Publications by authors named "Cristina Pereira"

58 Publications

Toward the Proactive Design of Sustainable Chemicals: Ionic Liquids as a Prime Example.

Chem Rev 2021 Sep 15. Epub 2021 Sep 15.

Institute of Water Chemistry, TU Dresden, 01062 Dresden, Germany.

The tailorable and often unique properties of ionic liquids (ILs) drive their implementation into a broad variety of seminal technologies. The modular design of ILs allows in this context a proactive selection of structures that favor environmental sustainability-ideally without compromising their technological performance. To achieve this objective, the whole life cycle must be taken into account and various aspects considered simultaneously. In this review, we discuss how the structural design of ILs affects their environmental impacts throughout all stages of their life cycles and scrutinize the available data in order to point out knowledge gaps that need further research activities. The design of more sustainable ILs starts with the selection of the most beneficial precursors and synthesis routes, takes their technical properties and application specific performance into due account, and considers its environmental fate particularly in terms of their (eco)toxicity, biotic and abiotic degradability, mobility, and bioaccumulation potential. Special emphasis is placed on reported structure-activity relationships and suggested mechanisms on a molecular level that might rationalize the empirically found design criteria.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1021/acs.chemrev.0c01265DOI Listing
September 2021

Irrigation of soil with reclaimed wastewater acts as a buffer of microbial taxonomic and functional biodiversity.

Sci Total Environ 2021 Aug 14;802:149671. Epub 2021 Aug 14.

Instituto de Tecnologia Química e Biológica António Xavier, Universidade Nova de Lisboa, Av. da República, 2780-157 Oeiras, Portugal. Electronic address:

The usage of reclaimed wastewater (RWW) for irrigation of agricultural soils is increasingly being acknowledged for reducing water consumption by promoting reuse of treated wastewater, and for the delivery of extant nutrients in the soil. The downside is that RWW may be a vector for contamination of soils with contaminants of emerging concern (CECs), if left uncontrolled. Its usage is anticipated to alter the soil properties, consequently also the soil microbial community. In the present study, soil microcosms were set to monitor how short periods (up to fourteen days) of RWW irrigation influence the soil ecosystem, namely its physicochemical properties, functioning, and colonising microbiota (differentiating fungi from bacteria). Two scenarios were studied: clean soil and soil contaminated (spiked) with 9 CECs, at conditions that limit any abiotic decay processes, monitoring along time fluctuations in the taxonomic and functional microbiota diversity. As shortly as fourteen days, the irrigation of either soil with RWW did not significantly (p > 0.05) alter its physicochemical properties and scarcely impacted the bioremediation processes of the CECs that showed decay levels ranging from 24% to 100%. Bacillus spp. dominance was enhanced along time in all the soil microcosms (reaching over 70% of the total abundance on the 7th day) but the RWW help to preserve, to some extent, high bacterial diversity. Besides, irrigation with RWW acted as a buffer of the soil mycobiota, limiting alterations in its composition caused either along time (to a minor degree) or due to contamination with CECs (to a great degree). This includes limiting the rise of Rhizopus sp. relative abundance. Collectively, our data support the utility of short-term periods of RWW irrigation for preserving the soil microbial diversity and functioning, especially when fungi are considered.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scitotenv.2021.149671DOI Listing
August 2021

variant in focal cortical dysplasia: a case report and review of the literature.

Oxf Med Case Reports 2021 May 24;2021(5):omab027. Epub 2021 May 24.

iCBR/CIMAGO, Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.

Germline and 2-hit brain somatic variants in gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in gene (c.3241A>C, p.Thr1081Pro), classified as of unknown significance, in a patient with clinical features compatible with phenotype (FCD, focal epilepsy, attention-deficithyperactivity disorder and borderline intellectual functioning) This missense variant has previously been reported in two other epileptic patients. Although interpretation of missense variants remains a challenge variants in patients with FCD and epilepsy cannot be neglected. Null variants were the most frequently reported in FCD patients, but missense variants have been described as well. The recognition of phenotype and the appropriate interpretation of the detected variants are essential, since it may have important treatment implications in the near future, namely the use of mTOR inhibitors.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/omcr/omab027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143668PMC
May 2021

Ischemic Cerebellar Stroke in a 4-Year-Old Boy After Chickenpox: An Atypical Vascular Involvement.

J Stroke Cerebrovasc Dis 2021 Jun 1;30(6):105719. Epub 2021 Apr 1.

Child Development Centre, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal. Electronic address:

Cerebrovascular events in pediatric population are very rare. Up to 30% may result from varicella zoster (VZV) arteriopathy, usually as a delayed complication of varicella primary infection. The most typical pattern includes involvement of anterior brain circulation arteries, probably by VZV migration from the trigeminal ganglia. Strokes related with VZV usually have a good prognosis, but risk of recurrence is greater when compared to other stroke etiologies in this age group. We report the case of a 4-year-old boy, immunocompetent, who presented a basilar artery stenosis and a cerebellar stroke, an extremely rare presentation of VZV arteriopathy. The investigation workup and treatment are detailed, as the clinical and imaging follow-up after one year.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2021.105719DOI Listing
June 2021

A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.

Epilepsia Open 2021 03 13;6(1):160-170. Epub 2021 Jan 13.

IRCCS Mondino Foundation Pavia Italy.

Objective: Clinical care of rare and complex epilepsies is challenging, because evidence-based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies.

Methods: Members of the ( were invited to participate in a web-based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht-like diseases. A consensus-based questionnaire was generated for each disease.

Results: Twenty-six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht-like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers.

Significance: The survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/epi4.12459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918306PMC
March 2021

Low Serum Zinc Levels and Associated Risk Factors in Hospitalized Patients Receiving Oral or Enteral Nutrition: A Case-control Study.

Clin Ther 2021 02 30;43(2):e39-e55. Epub 2020 Dec 30.

School of Medicine, Federal University of Uberlandia, Uberlandia, Minas Gerais, Brazil. Electronic address:

Purpose: To assess whether hospitalization and feeding strategy impact the risk of hypozincemia and associated risk factors.

Methods: In this case-control study, serum zinc levels were compared between inpatients fed oral nutrition (ON) (n = 76) or enteral nutrition (EN) (n = 191) with outpatient controls (n = 1095).

Findings: Zinc levels were significantly lower in inpatients receiving EN compared with those receiving ON (P = 0.001). Significant (P < 0.001) β-values of -11.16 and -17.58 for serum zinc concentrations were found for inpatients receiving ON or EN, respectively, compared with the outpatients. Hospitalization and old age were both independent predictors of zinc deficiency. More than 75% of patients >60 years of age fed EN had a zinc concentration <68.75 μg/dL. Low hemoglobin levels increased the risk of low zinc levels for inpatients receiving EN (P = 0.003) and ON (P = 0.026). Age (P < 0.001), noninvasive mechanical ventilatory support (P = 0.016), and critical care (P = 0.018) were risk factors for hypozincemia in patients receiving ON. Low iron levels were associated with hypozincemia (P = 0.001) in patients receiving EN.

Implications: Hospitalization and being >60 years of age were risk factors for zinc deficiency. Intensive care and noninvasive mechanical ventilatory support were risk factors for hypozincemia in hospitalized patients who were fed orally. Low hemoglobin levels increased the risk of low zinc concentrations for inpatients receiving EN and ON, and low iron levels were associated with hypozincemia only after EN.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinthera.2020.12.006DOI Listing
February 2021

Electro-bioremediation of a mixture of structurally different contaminants of emerging concern: Uncovering electrokinetic contribution.

J Hazard Mater 2021 03 20;406:124304. Epub 2020 Oct 20.

CENSE - Center for Environmental and Sustainability Research, Department of Environmental Sciences and Engineering, NOVA School of Science and Technology, NOVA University Lisbon, 2829-516 Caparica, Portugal. Electronic address:

This study analyses the electrokinetic (EK) contribution to the removal from a clay soil of a mixture of 10 different contaminants of emerging concern (CECs; 17β-estradiol, E2; sulfamethoxazole, SMX; bisphenol A, BPA; ibuprofen, IBU; 17α-ethinylestradiol, EE2; oxybenzone, OXY; diclofenac, DCF; triclosan, TCS; caffeine, CAF; carbamazepine, CBZ). After 4 days, the CECs natural attenuation was between 0% (CBZ) and 90% (E2) yet increasing with the application of EK (20 mA, 12 h ON/OFF) to 14% (CBZ) and 100% (E2). When EK was applied, the CECs more recalcitrant to biodegradation (i.e. ≤ 13% biotic decay) mostly underwent electro-chemical induced degradation (OXY, DCF, TCS, CAF, CBZ). Daily irrigation enhanced the rates of the electro-oxidation -osmosis and -migration, increasing the CECs decay. After 8 days of EK treatment, the CECs decay increased, surpassing the decay lag phase of some compounds (OXY, TCS, and CBZ). Yet after 16 days, most CECs showed similar removals with and without EK, with EK only acting positively on SMX, OXY, TCS and CBZ (ca. +10%). Our results support that EK application can improve the removal of CECs from soil, however, under the conditions tested, 16-day treatment lead to pH alterations that decreased the bioremediation efficiency and inhibited electro-degradation near the cathode.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jhazmat.2020.124304DOI Listing
March 2021

REMOTE Ischemic Perconditioning Among Acute Ischemic Stroke Patients in Catalonia: REMOTE-CAT PROJECT.

Front Neurol 2020 25;11:569696. Epub 2020 Sep 25.

Stroke Unit, Hospital de Sant Pau, Barcelona, Spain.

Remote ischemic perconditioning during cerebral ischemia (RIPerC) refers to the application of brief episodes of transient limb ischemia commonly to a limb, it represents a new safe, simple and low-cost paradigm in neuroprotection. To evaluate the effects of RIPerC on acute ischemic stroke (AIS) patients, applied in the ambulance, to improve functional outcomes compared with standard of care. A sample size of 286 patients in each arm achieves 80% power to detect treatment differences of 14% in the outcome, using a two-sided binomial test at significance level of 0.05, assuming that 40% of the control patients will experience good outcome and an initial misdiagnosis rate of 29%. We aim to conduct a multicentre study of pre-hospital RIPerC application in AIS patients. A total of 572 adult patients diagnosed of suspected clinical stroke within 8 h of symptom onset and clinical deficit >0 according to prehospital rapid arterial occlusion evaluation (RACE) scale score will be randomized, in blocks of size 4, to RIPerC or sham. Patients will be stratified by RACE score scale. RIPerC will be started in the ambulance before hospital admission and continued in the hospital if necessary. It will consist of five cycles of electronic tourniquet inflation and deflation (5 min each). The cuff pressure for RIPerC will be 200 mmHg during inflation. Sham will only simulate vibration of the device. The primary outcome will be the difference in the proportion of patients with good outcomes as defined by a mRS score of 2 or less at 90 days. Secondary outcomes to be monitored will include early neurological improvement rate, treatment related serious adverse event rates, size of the infarct volume, symptomatic intracranial hemorrhage, metabolomic and lipidomic response to RIPerC and Neuropsychological evaluation at 90 days. Neuroprotective therapies could not only increase the benefits of available reperfusion therapies among AIS patients but also provide an option for patients who are not candidates for these treatments. REMOTE-CAT will investigate the clinical benefit of RIC as a new neuroprotective strategy in AIS. www.ClinicalTrials.gov, identifier: NCT03375762.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2020.569696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546310PMC
September 2020

Grafts of human adipose-derived stem cells into a biodegradable poly (acid lactic) conduit enhances sciatic nerve regeneration.

Brain Res 2020 11 1;1747:147026. Epub 2020 Aug 1.

Laboratório de Neurodegeneração e Reparo, Departamento de Patologia, Faculdade de Medicina, HUCFF, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address:

Despite the regenerative potential of the Peripheral Nervous System (PNS), injuries with loss of a nerve segment make the functional recovery a challenge. This work aimed to investigate the effects of the association of biodegradable conduits of poly (lactic acid) (PLA) with human adipose-derived stem cells (hADSCs) on the regeneration of the sciatic nerve. C57BL / 6 male mice were submitted to sciatic nerve transection followed by tubulization with PLA conduit. Animals were allocated in two groups: the first received an injection of DMEM inside the conduit (DMEM) and the second received hADSCs inside it (hADSC). Sensory and motor functions were assessed by the pinprick test and electroneuromiography, respectively. To assess neuronal survival the retrograde tracer fluorogold was injected into the sciatic nerve distally to the lesion site. One week after that, animals were sacrificed, tissues harvested and processed for morphological evaluation. After eight weeks, all animals showed sensory recovery in the pinprick test and there was no significant difference between the two groups. The amplitude of the compound muscle action potential was higher in the hADSCs group. The number of myelinated nerve fibers, muscle cells and motor plates was higher in the hADSC group. There was also greater survival of sensory and motor neurons in the hADSC animals. These results suggest that the association of PLA conduit and cell therapy with hADSCs leads to a better functional and morphological recovery after sciatic nerve transection.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.brainres.2020.147026DOI Listing
November 2020

The first report of deep-sea litter in the South-Western Caribbean Sea.

Mar Pollut Bull 2020 Aug 5;157:111327. Epub 2020 Jun 5.

Anadarko Colombia Company, Cl. 77a No. 11-32, Bogotá, Colombia.

Marine litter is a world-wide problem, but the knowledge on this topic in remote areas such as the poles and the deep-sea is still limited. This paper seeks to provide the first accounts of deep-sea litter in the South-Western Caribbean Sea. The survey used 5066 still images from ROV video surveys around four hydrocarbon exploratory drilling zones. Forty-eight deep-sea litter items were found at depths between 427 and 2561 m, and analyzed by three different marine litter classifications. Plastic was the most frequent material (65%) and general litter the main category (69%). Almost half of the deep-sea litter items were found close to marine organism. This baseline is a first step to further research of human impact on the marine bottoms of the Caribbean. The paper highlights the importance of deep-sea litter as a descriptor of marine pollution, and the role of scientific cooperation between off-shore industry and the academy.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.marpolbul.2020.111327DOI Listing
August 2020

Induced neuroprotection by remote ischemic perconditioning as a new paradigm in ischemic stroke at the acute phase, a systematic review.

BMC Neurol 2020 Jul 2;20(1):266. Epub 2020 Jul 2.

Clinical Neurosciences Group, Institut de Recerca Biomèdica de Lleida (IRBLleida). UdL, Lleida, Spain.

Background: Remote ischemic conditioning during cerebral ischemia (remote ischemic perconditioning, RIPerC) refers to the application of several cycles of brief ischemia and reperfusion (I/R) commonly to a limb, and it represents a new paradigm in neuroprotection with multiple mechanisms of action in ischemic stroke (IS) patients during acute phase. Some clinical trials just finished, and a few others are still ongoing; gather the current knowledge and pull it down to influence the present and future studies was the goal of this paper.

Methods: A systematic review of published research papers and/or registered clinical trials since 2000 was performed.

Results: Nineteen studies were identified and only four studies were completed. All of them have demonstrated that RIPerC is safe, feasible and well tolerated in IS patients. However, a high heterogeneity of clinical trial characteristics was observed: five (26.3%) randomized clinical trials (RCTs) included only thrombolytic-treated patients, three (15.8%) RCTs only thrombectomy-treated patients, and five (26.3%) RCTs required radiological confirmation of IS. Temporal inclusion criteria vary from 4 h to 48 h. Most of the clinical trials used 4 cycles of RIPerC in the upper non-affected limb. Interestingly, only three (16.7%) RCTs applied RIPerC during the transportation in the ambulance. Neuroimaging outputs were the main endpoints when endovascular therapy was applied; functional outcome is also the main endpoint in large-medium size studies.

Conclusions: This review summarizes the completed and ongoing clinical trials on RIPerC in IS patients, where RIPerC has been used alone or in combination with recanalization therapies. Ongoing clinical trials will provide new information on the best RIPerC intervention strategy and potentially improve the functional outcome of IS patients; definition of new RIPerC strategies would ideally aim at enhancing tissue preservation, promoting neurological recovery, and stratify patients to improve treatment feasibility.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12883-020-01836-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330956PMC
July 2020

Unilateral Optic Neuritis in Children: Experience of a Tertiary Centre.

Eur Neurol 2020 22;83(3):251-258. Epub 2020 Jun 22.

Centre for Child Development - Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

Introduction: Optic neuritis (ON) is an inflammation of the optic nerve that can be associated with a multitude of different systemic conditions and primary CNS disorders. In children, only around 25% of unilateral ON cases are considered idiopathic. Despite being considered a clinical diagnosis per se, neuroimaging plays a crucial role in the diagnostic pathway for these patients.

Methods: Demographic, clinical, and imaging data of all patients presenting with unilateral ON at a tertiary paediatric centre over 40 months (January 1, 2016, to April 30, 2019) were retrospectively analyzed.

Results: A total of 10 patients filled the inclusion criteria. The average age of presentation was 14.1 years. Patients in this series had ON associated with multiple sclerosis (n = 2), anti-MOG demyelinating disorders (n = 2), and neuromyelitis optica with anti-AQP4 antibodies (n = 1). ON was determined to be secondary to Toxocara canis infection in 1 case and a side effect of anti-TNFα therapy (adalimumab) in another. MR imaging showed T2 hyperintensity and/or gadolinium enhancement of one of the optic nerves in all but 3 patients, and coincidently these were the cases with monophasic idiopathic ON (average follow-up period of 2 years). Additional brain MR findings directly contributed to the final diagnosis in half of the cases.

Conclusions: These cases are demonstrative of the wide range of possible causes of unilateral ON in the paediatric population. The absence of typical ON features in MR imaging was strongly suggestive of idiopathic ON in this cohort (p < 0.01).
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1159/000508070DOI Listing
March 2021

Evaluation of the Physicochemical and Sensory Characteristics of Different Fig Cultivars for the Fresh Fruit Market.

Foods 2020 May 12;9(5). Epub 2020 May 12.

Department of Plant Sciences, Agrifood Technology Institute of Extremadura (INTAEX-CICYTEX), Junta de Extremadura, Avda. Adolfo Suárez s/n, 06007 Badajoz, Spain.

Physicochemical and sensory properties of nine fig cultivars: 'San Antonio' (SA), 'Blanca Bétera' (BB), 'Brown Turkey' (BT), 'Tres Voltas L'Any' (TV), 'Banane' (BN), 'Cuello Dama Blanco' (CDB), 'Cuello Dama Negro' (CDN), 'Colar Elche' (CE), and 'De Rey' (DR), were compared at three different ripening stages. Weight, size, titratable acidity, pH, skin and flesh colours, firmness, maturation index (MI), and volatile compounds were determined in samples from two consecutive seasons, in addition to both descriptive and hedonic sensory analysis. The mechanical behaviour of figs determined by firmness analysis and colour changes in both skin and flesh was the most important trait for the discrimination of ripening stages. Notable differences among cultivars were found in most of the parameters studied, in particular the inter-cultivar differences highlighted for MI, pH, acidity, and skin colour analyses, followed by volatile compounds. Principal component analysis (PCA) indicated that MI, pH, colour parameters of flesh (h and L*), and terpenes were the best physicochemical indices to determine overall acceptability which is highly correlated with the sensory attributes flesh colour and fruit flavour. The results suggested that CDN and SA showed huge consumer acceptability among the fig cultivars studied.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/foods9050619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278814PMC
May 2020

Gelastic seizures: a retrospective study in five tertiary hospital centres.

Epileptic Disord 2020 Apr;22(2):165-175

Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN), Lisbon,, Faculdade de Medicina, Universidade de Lisboa, Lisbon.

This study aimed to characterize, clinically and neurophysiologically, a series of patients with gelastic seizures (GS), including both adults and children. We retrospectively collected patients with GS from epilepsy clinics of five tertiary hospital centres within a single country. Patients were selected through relatives'/caregivers' descriptions, home video and/or video-EEG monitoring. GS were identified through ictal semiology. Thirty-five patients were enrolled; 62.9% had initial GS in infancy, 14.3% in adolescence and 22.8% at adult age. Twenty-six had abnormal MRI: eight presented with hypothalamic hamartoma (HH) and 16 non-HH lesions that included different structural aetiologies and genetic, metabolic and immune aetiologies. All patients with HH had their first GS in infancy or adolescence. For the remaining aetiologies, GS started in infancy in 59.3%, in adolescence in 11.1% and at adult age in 29.6%. Video-EEG data was available for analysis in 11 patients, including seven patients with a non-HH MRI lesion. The ictal onset topography on scalp video-EEG was usually concordant with the MRI lesion (in 6/7 patients) and the most frequent ictal onset was fronto-temporal. In two patients, both video-EEG and MRI suggested a parietal and occipital epileptogenic zone. Aetiologies and patterns of affected topography unrelated to HH are common in patients with GS, and all age groups may manifest with this type of ictal semiology. This ictal manifestation has no lateralizing value and, despite a clear preponderance for hypothalamic, frontal and temporal lobe origins, other brain areas, namely the parietal and occipital lobes, should be considered.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2020.1153DOI Listing
April 2020

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome.

Cureus 2020 Mar 8;12(3):e7203. Epub 2020 Mar 8.

Child and Adolescent Psychiatry, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.

The 3q29 microduplication syndrome is usually associated with an intellectual disability or global developmental delay and mild dysmorphisms. Other comorbid presentations reported in the literature include psychiatric disorders such as behavioral disorders, attention-deficit/hyperactivity disorders, elimination disorders, and autism spectrum disorders. The current case is of an adolescent girl with the 3q29 microduplication syndrome who had a diverse psychiatric presentation. The patient was a 14-year-old girl in institutional care, with a moderate intellectual developmental disorder, major behavioral problems, with auto- and hetero-aggressions and a suspicious trait, who presented with frequent episodes of emotional dysregulation, disorganized speech with derailment, incoherence, perseveration and grossly disorganized behavior. Auditory hallucinations were suspected sometimes but were difficult to evaluate. In our assessment, we were not able to determine a diagnosis because the symptoms do not seem to be defined by any classification. Major pharmacological and non-pharmacological interventions were needed to manage this case.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.7203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138485PMC
March 2020

Deep neck space infection and Lemierre's syndrome caused by : A case report.

IDCases 2020 9;19:e00669. Epub 2019 Nov 9.

Unidade de Cuidados Intensivos Polivalentes, Centro Hospitalar Universitário do Porto, Portugal.

Introduction: Deep neck space infections most commonly arise from a septic focus of the mandibular teeth, tonsils, parotid gland, middle ear or sinuses, usually with a rapid onset and frequently with progression to life-threatening complications. Lemierre's syndrome is classically defined by an oropharyngeal infection with internal jugular vein thrombosis followed by metastatic infections in other organs.

Case Presentation: A 32-year-old female patient, with no significant past medical history, was diagnosed with a dental abscess on her left inferior 3 molar. Six days later, the condition complicated with severe upper respiratory distress, odynophagia and trismus, and extension of the inflammatory signs to the anterior cervical region, involving the upper airway. Computed tomography scan confirmed extension to submandibular, parapharyngeal and retrosternal spaces), which required nasotracheal intubation due to compromised airway. Urgent and subsequent surgical drainages were performed, alongside with concomitant antibiotic therapy. Additionally, left internal jugular vein thrombosis was described - with later extension to the brachiocephalic vein, without other complications, consistent with Lemierre's syndrome, although without full features. was identified in the drained pus specimens. The patient made a satisfactory clinical progress and was discharged after 25 days, still under therapeutic hypocoagulation.

Conclusion: As deep neck space infections can be life-threatening, clinicians must be aware and not underestimate their potential severity. Lemierre's syndrome is a complication difficult to recognize, which requires additional awareness of the many possible presentations, for appropriate diagnostic studies and therapeutic plan.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.idcr.2019.e00669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093741PMC
November 2019

Ketogenic Diet for Refractory Childhood Epilepsy: Beyond Seizures Control, the Experience of a Portuguese Pediatric Centre.

Acta Med Port 2019 Dec 2;32(12):760-766. Epub 2019 Dec 2.

Centro de Desenvolvimento da Criança. Hospital Pediátrico. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.

Introduction: Ketogenic diet is a low carbohydrate diet, which can be used as a treatment for refractory childhood epilepsy. The first aim of this study was to evaluate its efficacy, in patients receiving ketogenic diet for at least three months, on epilepsy control, behaviour and awareness. The secondary aims were to evaluate the variation in the number of antiepileptic drugs, reasons for discontinuing the diet and adverse effects.

Material And Methods: Retrospective analysis of clinical records of patients who underwent ketogenic diet for refractory epilepsy, from October 2007 to January 2018, in a tertiary pediatric hospital.

Results: In the twenty-nine eligible patients, the mean age of initiation was 7.9 years-old (+/- 5.6). Of those, 18 had a ≥ 50% reduction of seizure activity, 19 a marked behaviour improvement and 18 improved awareness. The median number of antiepileptic drugs remained equal for the 15 patients who completed 18 months of treatment (three drugs). The main reason for discontinuing ketogenic diet was a familiar decision. The main adverse effects were hypercholesterolemia (n = 23) and hypertriglyceridemia (n = 21).

Discussion: Results were comparable to those of other cohorts, namely age of initiation, proportion of patients completing ketogenic diet, most frequent reasons for stopping and significant improvement of alertness and behavior.

Conclusion: Beyond seizure control, patients experienced a marked improvement in behavior and awareness. It is necessary to develop strategies to increase the adherence of families to the diet.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.20344/amp.12184DOI Listing
December 2019

Electrokinetic remediation of contaminants of emergent concern in clay soil: Effect of operating parameters.

Environ Pollut 2019 Oct 11;253:625-635. Epub 2019 Jul 11.

CENSE, Departamento de Ciências e Engenharia do Ambiente, NOVA School of Science and Technology, NOVA University Lisbon, 2829-516, Caparica, Portugal. Electronic address:

The potential of electrokinetic (EK) remediation to remove from soils one particular group of contaminants - contaminants of emergent concern (CECs), remains largely overlooked. The present study aimed to evaluate the efficiency of the EK process for the remediation of an agricultural clay soil containing CECs. The soil was spiked with four CECs - sulfamethoxazole, ibuprofen, triclosan and caffeine - and their status (i.e. residual amounts and spatial distribution) evaluated at the seventh day of EK treatment at a defined current intensity, directionality and duration of void period. The characterization of the soil physicochemical properties was also undertaken. The results showed similar degradation trends in all applied EK strategies, which were suchlike to that of the natural attenuation (biotic control): sulfamethoxazole > ibuprofen ≥ triclosan ≥ caffeine. The removal of the CECs was higher under a 10 mA constant current application than in the natural attenuation (up to 2.8 times higher; from 13 to 85%). Caffeine was the exception with its best removal efficiency being achieved when the ON/OFF switch mode with a void period duration of 12 h was used (36%). The use of electro-polarization reversal mode did not favour the remediation. The soil pH variations resulting from EK application were determinant for triclosan remediation, which increased with soil pH increase. The only EK condition that promoted the removal of all CECs was the ON/OFF switch mode of 12 h (removals between 36 and 72%), in which only minor physicochemical disturbances of the soil were observed. This is in accordance with a potential application of EK in-situ. The last is reinforced by the low estimated electrical cost of the best EK technology - 2.33 €/m for the 7 days. Overall the EK remediation processes are a promising technology to stimulate in situ the removal of CECs from agricultural soils.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.envpol.2019.07.040DOI Listing
October 2019

Theories of Aging and the Prevalence of Alzheimer's Disease.

Biomed Res Int 2019 16;2019:9171424. Epub 2019 Jun 16.

Laboratory of Physical Anthropology and Biomathematics, Department of Anatomy, Institute of Biomedical Science, Federal University of Alfenas, Alfenas, Brazil.

Objective: Aging and AD are associated in some way, then it is reasonable to ask whether or not it is possible to age without AD inexorably appearing at any moment, depending on the period of life. Therefore, the goal of this review is to verify, in light of some aging theories, the prevalence of AD.

Methods: For the purpose of this manuscript, the indexers , , , and were considered; were researched. The research was conducted using PubMed, Medline, Scopus, Elsevier, and Google Scholar.

Results: The most common subjects in the papers analyzed for this manuscript were aging and Alzheimer's disease. The association between Alzheimer and theories of aging seems inconclusive.

Conclusions: Accordingly, the general idea is that AD is associated with aging in such a way that almost all people will present this disease; however, it is plausible to consider that the increase in life expectancy will generate a high prevalence of AD. In a general sense, it seems that the theories of aging explain the origin of AD under superlative and catastrophic considerations and use more biomolecular data than social or behavioral data as the bases of analysis, which may be the problem.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1155/2019/9171424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6601487PMC
December 2019

Molecular detection of Hepatozoon felis in cats from Maio Island, Republic of Cape Verde and global distribution of feline hepatozoonosis.

Parasit Vectors 2019 Jun 11;12(1):294. Epub 2019 Jun 11.

Department of Veterinary Medicine, University of Milan, Via Celoria 10, 20133, Milan, Italy.

Background: Vector-borne diseases are emerging worldwide and have an important zoonotic relevance. In the last few years, the interest in vector-borne pathogens in cats has increased. However, studies on feline vector-borne pathogens on tropical islands are lacking. Islands differ from continental countries because they have an enclosed population of animals, with all year presence of the vectors and, most often, without vector control measures. This study focused on the molecular identification and phylogenetic analysis of vector-borne pathogens in autochthonous cats with a mixed indoor-outdoor lifestyle from Maio Island, Cape Verde archipelago.

Methods: Blood samples were collected from 80 asymptomatic cats, representing almost a quarter of the total cat population of the island. The presence of DNA of protozoa of the genus Hepatozoon and bacteria belonging to family Anaplasmataceae and to genus Bartonella was assessed by PCR and phylogenetic analysis was conducted. Statistical analysis was performed to identify risk factors associated with infection. For feline hepatozoonosis, a worldwide dataset of Hepatozoon felis sequences retrieved from mammal species and vectors along with Hepatozoon spp. sequences retrieved from felids was generated, phylogenetically analyzed and the geographical and host distribution was assessed.

Results: Hepatozoon felis genotype I was identified in 12 (15%) cats from Maio Island whereas none of the cats were PCR positive for the other pathogens tested. No significant association of H. felis infection with age, sex, location or presence of vectors was observed by statistical analysis in Cape Verde's cats. Phylogenetic analysis on the worldwide dataset of feline Hepatozoon sequences showed two significant distinct clades for H. felis genotype I and II. Different geographical distributions were assessed: H. felis genotype I was the only genotype found in Africa and has been reported worldwide, with the exception of Japan and Brazil where only H. felis genotype II has been reported.

Conclusions: The identification of H. felis genotype I in cats in Maio Island highlights the need to further investigate the significance of H. felis genotypes and to clarify the epidemiological aspects of this infection.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13071-019-3551-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560739PMC
June 2019

Regulation of the cutinases expressed by Aspergillus nidulans and evaluation of their role in cutin degradation.

Appl Microbiol Biotechnol 2019 May 13;103(9):3863-3874. Epub 2019 Mar 13.

Departamento de Alimentos y Biotecnología, Facultad de Química, Universidad Nacional Autónoma de México (UNAM), Ciudad Universitaria, 04510, Ciudad de México, Mexico.

Four cutinase genes are encoded in the genome of the saprophytic fungus Aspergillus nidulans, but only two of them have proven to codify for active cutinases. However, their overall roles in cutin degradation are unknown, and there is scarce information on the regulatory effectors of their expression. In this work, the expression of the cutinase genes was assayed by multiplex qRT-PCR in cultures grown in media containing both inducer and repressor carbon sources. The genes ancut1 and ancut2 were induced by cutin and its monomers, while ancut3 was constitutively expressed. Besides, cutin induced ancut4 only under oxidative stress conditions. An in silico analysis of the upstream regulatory sequences suggested binding regions for the lipid metabolism transcription factors (TF) FarA for ancut1 and ancut2 while FarB for ancut3. For ancut4, the analysis suggested binding to NapA (the stress response TF). These binding possibilities were experimentally tested by transcriptional analysis using the A. nidulans mutants ANΔfarA, ANΔfarB, and ANΔnapA. Regarding cutin degradation, spectroscopic and chromatographic methods showed similar products from ANCUT1 and ANCUT3. In addition, ANCUT1 produced 9,10-dihydroxy hexadecanoic acid, suggesting an endo-cleavage action of this enzyme. Regarding ANCUT2 and ANCUT4, they produced omega fatty acids. Our results confirmed the cutinolytic activity of the four cutinases, allowed identification of their specific roles in the cutinolytic system and highlighted their differences in the regulatory mechanisms and affinity towards natural substrates. This information is expected to impact the cutinase production processes and broaden their current biotechnological applications.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00253-019-09712-3DOI Listing
May 2019

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.

Mitochondrion 2019 07 1;47:309-317. Epub 2019 Mar 1.

Research & Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, Porto, Portugal; Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, Porto, Portugal. Electronic address:

Mitochondrial diseases (MD) are a group of rare inherited disorders, characterized by phenotypic heterogeneity, with hitherto no effective therapeutic options. The aim of this study was to develop a next generation sequencing (NGS) strategy, by using a custom gene panel and whole mitochondrial genome, to identify the disease causing pathogenic variants in 146 patients suspicious of MD. The molecular analysis of this cohort revealed six novel and 15 described pathogenic variants, as well as 26 variants of unknown significance. Our findings are expanding the mutational landscape of these disorders and support the use of a NGS strategy for a higher diagnostic yield.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2019.02.006DOI Listing
July 2019

Efficacy of a socioemotional learning programme in a sample of children with intellectual disability.

J Appl Res Intellect Disabil 2019 Mar 19;32(2):457-470. Epub 2018 Nov 19.

Polytechnic Institute of Castelo Branco- Superior School of Education, Castelo Branco, Portugal.

Socioemotional learning (SEL) is the process of developing social and emotional competences through which the child learns to recognize and manage emotions, care for others, make good decisions, behave responsibly and ethically, develop positive relationships and avoid negative behaviours (Promoting social and emotional learning: Guidelines for educators, 1997). To promote the development of these competences, specific programmes are developed. This study aims to analyse the impact of a SEL programme among children with intellectual disability. Two groups were established, control and experimental, and the Test of Emotion Comprehension (TEC) (Test of emotion comprehension - TEC, 2000; Les émotions à l'école, émotions et apprentissage, 2004) was applied to both as pre- and post-test. The programme was implemented in the experimental group, based on simply illustrated stories alluding the basic emotions. The findings suggest that the programme is effective in the development of socioemotional competences (SEC) in subjects with intellectual disabilities, evidencing the positive effects that the intervention programme had with the experimental group.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/jar.12547DOI Listing
March 2019

Canine Mammary Tumors: Comparison of Classification and Grading Methods in a Survival Study.

Vet Pathol 2019 Mar 31;56(2):208-219. Epub 2018 Oct 31.

12 Department of Microscopy, Instituto Ciências Biomédicas Abel Salazar, ICBAS, UPorto, University of Porto, Porto, Portugal.

Histopathology remains the cornerstone for diagnosing canine mammary tumors (CMTs). Recently, 2 classification systems (the World Health Organization [WHO] classification of 1999 and the proposal of 2011) and 2 grading methods based on the human Nottingham grade have been used by pathologists. Despite some evidence that the histological subtype and grade are prognostic factors, there is no comprehensive comparative study of these classification and grading systems in the same series of CMTs. In this study, the 2 classifications and the 2 grading methods were simultaneously applied to a cohort of 134 female dogs with CMTs. In 85 animals with malignant tumors, univariable and multivariable survival analyses were performed. Using the 2 systems, the proportion of benign (161/305, 53%) and malignant (144/305, 47%) tumors was similar and no significant differences existed in categorization of benign tumors. However, the 2011 classification subdivided malignant tumors in more categories-namely, those classified as complex, solid, and tubulopapillary carcinomas by the WHO system. Histological subtype according to both systems was significantly associated with survival. Carcinomas arising in benign tumors, complex carcinomas, and mixed carcinomas were associated with a better prognosis. In contrast, carcinosarcomas and comedocarcinomas had a high risk of tumor-related death. Slight differences existed between the 2 grading methods, and grade was related to survival only in univariable analysis. In this cohort, age, completeness of surgical margins, and 2 index formulas adapted from human breast cancer studies (including tumor size, grade, and vascular/lymph node invasion) were independent prognostic factors.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/0300985818806968DOI Listing
March 2019

Effects of Polyphenols on Thermogenesis and Mitochondrial Biogenesis.

Int J Mol Sci 2018 Sep 13;19(9). Epub 2018 Sep 13.

Laboratory of Immunopharmacology and Molecular Biology, Sao Francisco University Medical School, Av Sao Francisco de Assis, 218, Braganca Paulista, São Paulo 12916-900, Brazil.

Obesity is a health problem worldwide, and energy imbalance has been pointed out as one of the main factors responsible for its development. As mitochondria are a key element in energy homeostasis, the development of obesity has been strongly associated with mitochondrial imbalance. Polyphenols are the largest group of phytochemicals, widely distributed in the plant kingdom, abundant in fruits and vegetables, and have been classically described as antioxidants owing to their well-established ability to eliminate free radicals and reactive oxygen species (ROS). During the last decade, however, growing evidence reports the ability of polyphenols to perform several important biological activities in addition to their antioxidant activity. Special attention has been given to the ability of polyphenols to modulate mitochondrial processes. Thus, some polyphenols are now recognized as molecules capable of modulating pathways that regulate mitochondrial biogenesis, ATP synthesis, and thermogenesis, among others. The present review reports the main benefits of polyphenols in modulating mitochondrial processes that favor the regulation of energy expenditure and offer benefits in the management of obesity, especially thermogenesis and mitochondrial biogenesis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms19092757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6164046PMC
September 2018

Comparison of morphological and functional outcomes of mouse sciatic nerve repair with three biodegradable polymer conduits containing poly(lactic acid).

Neural Regen Res 2018 Oct;13(10):1811-1819

Pós Graduação em Ciências Morfológicas, Instituto de Ciências Biomédicas-UFRJ; Anatomia Patológica - Faculdade de Medicina - HUCFF -UFRJ; Laboratório de Neurodegeneração e Reparo - Faculdade de Medicina - HUCFF-UFRJ, Rio de Janeiro, RJ, Brazil.

Poly(lactic acid) (PLA)-containing nerve guidance conduits (NGCs) are currently being investigated for nerve repair as an alternative to autograft, which leads to permanent functional impairment in the territory innervated by the removed nerve. Combination of polymers modifies the physical properties of the conduits, altering their nerve-guidance properties. Conduits made from PLA-only or combined with other polymers have been used successfully for nerve repair, but their efficiency has not been compared. We compared the morphological and functional outcomes of peripheral nerve repair by using NGCs made of poly(lactic acid) and combined or not with polycaprolactone (PLA/PCL) or polyvinylpyrrolidone (PLA/PVP). To assess the functional recovery, we employed a mechanical hyperalgesia analysis, sciatic functional index (SFI), and electroneuromyography. The mechanical hyperalgesia analysis showed that the PLA group improved more rapidly than the PLA/PVP and PLA/PCL groups; similarly, in the electroneuromyography assay, the PLA group exhibited higher amplitude than the PLA/PCL and PLA/PVP groups. However, the SFI improvement rates did not differ among the groups. Morphologically, the PLA group showed more vascularization, while the nerve fiber regeneration did not differ among the groups. In conclusion, the PLA-only conduits were superior to the other NGCs tested for nerve repair.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4103/1673-5374.238712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128044PMC
October 2018

Comparative evaluation of 3 microbond strength tests using 4 adhesive systems: Mechanical, finite element, and failure analysis.

J Prosthet Dent 2018 Jan 5;119(1):166-174. Epub 2017 May 5.

Postgraduate student, School of Dentistry, Federal University of Uberlândia, Minas Giras, Brazil.

Statement Of Problem: Bond strength (BS) values from in vitro studies are useful when dentists are selecting an adhesive system, but there is no ideal measuring method.

Purpose: The purpose of this in vitro study was to investigate the influence of the evaluation method in the BS between dentin and composite resin.

Material And Methods: Molars with exposed superficial dentin (N=240) were divided into 3 groups according to the test: microtensile (μTBS), microshear (μSBS), and micropush-out (μPBS). Each one was subdivided into 4 groups according to the adhesive system: total etch, 3- and 2-step; and self-etch, 2- and 1-step). For the μPBS test, a conical cavity was prepared and restored with composite resin. An occlusal slice (1.5 mm in thickness) was obtained from each tooth. For the μSBS test, a composite resin cylinder (1 mm in diameter) was built on the dentin surface of each tooth. For the μTBS test, a 2-increment composite resin cylinder was built on the dentin surface, and beams with a sectional area of 0.5 mm were obtained. Each subgroup was divided into 2 (n=10) as the specimens were tested after 7 days and 1 year of water storage. The specimens were submitted to load, and the failure recorded in units of megapascals. Original BS values from the μTBS and μSBS tests were normalized for the area from μPBS specimens. Original and normalized results were submitted to a 3-way ANOVA (α=.05). The correlation among mechanical results, stress distribution, and failure pattern was investigated.

Results: Significant differences (P<.05) were found among the adhesive systems and methods within both the original and normalized data but not between the storage times (P>.05). Within the 7 days of storage, the original BS values from μTBS were significantly higher (P<.001) than those from μPBS and μSBS. After 1 year, μSBS presented significantly lower results (P<.001). However, after the normalization for area, the BS values of the μTBS and μPBS tests were similar, and both were higher (P<.001) than that of μSBS in both storage times. In the μSBS and μTBS specimens, cohesive and adhesive failures were observed, whereas μPBS presented 100% of adhesive failures. The failure modes were compatible with the stress distribution.

Conclusions: The storage time did not affect the results, but differences were found among the adhesives and methods. For comparisons of bond strength from tests with different bonding areas, the normalization for area seemed essential. The microshear bond test should not be used for bond strength evaluation, and the microtensile test needs improvement to enable reliable results regarding stress concentration and failure mode. The micropush-out test may be considered more reliable than the microtensile in the bond strength investigation, as demonstrated by the uniform stress concentration and adhesive failure pattern.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.prosdent.2017.02.024DOI Listing
January 2018

Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.

Muscle Nerve 2017 Nov 4;56(5):868-872. Epub 2017 Apr 4.

Newborn screening, Metabolism and Genetics Unit, Human Genetics Department, Dr. Ricardo Jorge National Health Institute, Porto, Portugal.

Introduction: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity.

Methods: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders.

Results: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clinical phenotype was chronic progressive external ophthalmoplegia (CPEO). It occurred in 41.5% of all patients, primarily in those with mtDNA deletions. Histological signs of mitochondrial dysfunction were found in 73.8% of patients, and respiratory chain enzyme assay (RCEA) abnormalities were detected in 51.9%.

Conclusions: This study confirms the high relative frequency of single large-scale deletions among mitochondrial disorders as well as its particular association with CPEO. Muscle histology seems to be particularly useful in older patients and those with mtDNA deletions, whereas RCEA might be more helpful in young children or individuals with mtDNA depletion. Muscle Nerve 56: 868-872, 2017.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.25593DOI Listing
November 2017

Prevalence of antibodies to a new histo-blood system: the FORS system.

Blood Transfus 2018 02 24;16(2):178-183. Epub 2016 Oct 24.

Biomedical Sciences Department of ESTESC - Coimbra Health School, Polytechnic Institute of Coimbra, Coimbra, Portugal.

Background: In 1987, three unrelated English families were reported with a putative blood subgroup called A. Swedish researchers later found evidence leading to abolishment of the A subgroup and establishment instead of the FORS blood group system (System 31 - ISBT, 2012). It is important to know the prevalence of antibodies in order to make the best decisions in transfusion medicine. Cells expressing the Forssman saccharide, such as sheep erythrocytes, are needed to detect the anti-Forssman antibody. The aim of this study was to define the prevalence of human anti-Forssman antibody.

Materials And Methods: Plasma samples from 800 individuals were studied. Sheep erythrocytes or Forssman "kodecytes" were mixed with the plasma samples using the tube technique. Plasma from an A individual was used as a negative control and monoclonal anti-Forssman antibody (M1/22.25.8HL cell line supernatant) was used as the positive control.

Results: Of the 800 individuals tested, one was negative for the presence of anti-Forssman antibody. We compared the anti-Forssman antibody reaction pattern between genders and found that males have weaker reactions than females, both at room temperature (p=0.026) and at 37 °C (p=0.043). We also investigated the reaction pattern of anti-Forssman antibody in relation to ABO and Rh blood group types without finding any significant differences.

Discussion: Sheep erythrocytes are suitable for searching for human anti-Forssman antibody. The quantity of anti-Forssman antibodies in plasma is higher in females than in males. In the population (n=800) studied here, we found one individual lacking the anti-Forssman antibody. These results contribute to the data already published, confirming that FORS is a rare blood group.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2450/2016.0120-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839615PMC
February 2018

Molecular detection of Anaplasma platys, Ehrlichia canis, Hepatozoon canis and Rickettsia monacensis in dogs from Maio Island of Cape Verde archipelago.

Ticks Tick Borne Dis 2016 07 3;7(5):964-969. Epub 2016 May 3.

Institute of Biomedical Sciences Abel Salazar, University of Porto, Portugal.

Tick-borne diseases are emerging worldwide and have an important zoonotic relevance. Dogs play an important role in the epidemiology of several zoonotic tick-borne pathogens acting as sentinels and/or reservoirs. This study focused on the molecular identification of tick-borne pathogens in blood samples of 153 autochthonous asymptomatic dogs in Maio Island, Cape Verde archipelago. Eighty-four (54.9%) dogs were positive for one or more pathogens. Fifty-five (35.9%) dogs were infected with Hepatozoon canis, 53 (34.6%) with Anaplasma platys, five (3.3%) with Ehrlichia canis and Rickettsia monacensis, an emerging human pathogen, was also identified in a single dog (0.7%). The former three pathogens cause important canine tick-borne diseases that are transmitted or potentially transmitted by Rhipicephalus sanguineus s.l., the only hard tick identified in Cape Verde. Furthermore, Wolbachia spp. was amplified from the blood of one dog. None of the dogs were positive for Anaplasma phagocytophilum, Borrelia burgdorferi sensu lato, Midichloria mitochondrii, Bartonella spp., Babesia spp. or Theileria spp. Fifty-four (35.3%) animals showed single infections and 30 (19.6%) co-infections, with A. platys and H. canis co-infection being the most frequent (28 dogs, 18.3%). The frequency of E. canis infection was statistically different among age groups (P=0.017), being higher among dogs older than 4 years compared to younger dogs. Infection by A. platys was also statistically different among age groups (P=0.031), being higher in dogs younger than 2 years compared to older dogs. The statistical analyses showed no significant association of PCR positivity with gender or location. The frequency of tick-borne pathogens detected in dogs in Maio Island, including R. monacensis, highlights the need to improve diagnosis and control in order to prevent the risk of transmission of these pathogens among dogs and humans living in or travelling to this touristic island.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ttbdis.2016.05.001DOI Listing
July 2016
-->