2,234,771 results match your criteria Child & Family Social Work[Journal]


Language characterization in 16p11.2 deletion and duplication syndromes.

Am J Med Genet B Neuropsychiatr Genet 2020 Jul 11. Epub 2020 Jul 11.

Simons Foundation, New York, New York, USA.

Expressive language impairment is one of the most frequently associated clinical features of 16p11.2 copy number variations (CNV). However, our understanding of the language profiles of individuals with 16p11. Read More

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http://dx.doi.org/10.1002/ajmg.b.32809DOI Listing

Whispers, echoes, friends and fears: forms and functions of voice-hearing in adolescence.

Child Adolesc Ment Health 2020 Jul 11. Epub 2020 Jul 11.

Division of Psychology and Mental Health, School of Health Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.

Background: Despite the high prevalence of voice-hearing in childhood, research with adolescents aged under 16 years is scarce. Theoretical connections between clinical and developmental conceptualizations of voice-hearing are limited, resulting in missed opportunities to explore unusual sensory experiences with young people.

Methods: Demographic, contextual and qualitative data were collected through a web-based survey with 68 adolescents (M = 14. Read More

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http://dx.doi.org/10.1111/camh.12403DOI Listing

Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.

Am J Med Genet B Neuropsychiatr Genet 2020 Jul 11. Epub 2020 Jul 11.

Interdepartmental Program "Autism 0-90", "Gaetano Martino" University Hospital, University of Messina, Messina, Italy.

The Huntingtin (HTT) gene contains a CAG repeat in exon 1, whose expansion beyond 39 repeats consistently leads to Huntington's disease (HD), whereas normal-to-intermediate alleles seemingly modulate brain structure, function and behavior. The role of the CAG repeat in Autism Spectrum Disorder (ASD) was investigated applying both family-based and case-control association designs, with the SCA3 repeat as a negative control. Significant overtransmission of "long" CAG alleles (≥17 repeats) to autistic children and of "short" alleles (≤16 repeats) to their unaffected siblings (all p < 10 ) was observed in 612 ASD families (548 simplex and 64 multiplex). Read More

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http://dx.doi.org/10.1002/ajmg.b.32806DOI Listing

Anomalous origin of left vertebral artery from descending thoracic aorta: A rare variant.

J Card Surg 2020 Jul 11. Epub 2020 Jul 11.

Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.

We present a case of a 4-year-old child operated previously for cyanotic congenital heart disease where the follow-up computed tomography (CT) angiography revealed anomalous origin of the left vertebral artery from the descending thoracic aorta. This case also highlights the potential implications of this variant and the value of CT angiography in diagnosing this anomaly. Read More

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http://dx.doi.org/10.1111/jocs.14786DOI Listing

Bi-ventricular repair of double outlet left ventricle: Experience and review of the literature.

J Card Surg 2020 Jul 11. Epub 2020 Jul 11.

Department of Cardiothoracic and Vascular Surgery, Sree Chitra Tirunal Institute for Medical Sciences & Technology, Trivandrum, Kerala, India.

Background: Double-outlet left ventricle (DOLV) is a rare congenital cardiac anomaly. The aorta and the main pulmonary arterial trunk arises predominantly from the left ventricle and is associated with a malaligned ventricular septal defect, various degrees of hypoplasia of the right ventricle, and presence, or absence of pulmonary stenosis. Bi-ventricular repair is the preferred treatment option whenever possible. Read More

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http://dx.doi.org/10.1111/jocs.14768DOI Listing

Possible association between the integrity of cerebellar pathways and neurocognitive performance in children with posterior fossa tumors.

Pediatr Blood Cancer 2020 Jul 11:e28538. Epub 2020 Jul 11.

San Vito al Tagliamento, Pordenone, Scientific Institute Eugenio Medea, Italy.

Background: Cerebellar tumor survivors often exhibit neuropsychological deficits that could be related to alterations in cerebro-cerebellar networks. This is a pilot study designed to understand if diffusion tensor imaging (DTI)-based tractography is able to identify possible correlations between cerebellar white matter structure and cognitive outcome in children on long-term follow-up for posterior fossa (PF) tumors who were thoroughly assessed for neuropsychological functioning.

Methods: DTI-based tractography was performed in pediatric patients with PF tumors. Read More

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http://dx.doi.org/10.1002/pbc.28538DOI Listing

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Hum Mutat 2020 Jul 11. Epub 2020 Jul 11.

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.

Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of synaptic cargo, are well-recognized to cause a spectrum of neurological conditions, commonly known as KIF1A-associated neurological disorders (KAND). Here we report one mutation-negative female with classic Rett syndrome (RTT) harboring a de novo heterozygous novel variant [NP_001230937.1:p. Read More

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http://dx.doi.org/10.1002/humu.24079DOI Listing

Remdesivir during induction chemotherapy for newly diagnosed paediatric acute lymphoblastic leukaemia with concomitant SARS-CoV-2 infection.

Br J Haematol 2020 Jul 11. Epub 2020 Jul 11.

Department of Haematology, Great Ormond Street Hospital for Children NHS Trust, London, UK.

The COVID-19 pandemic potentially makes treatment of acute leukaemia more difficult. Most induction chemotherapy regimens for acute leukaemia lead to extended periods of cytopaenia and immunosuppression rendering patients vulnerable to opportunistic infections. As with many aspects of SARS-CoV-2, there is no universally accepted way of treating patients who present with acute leukaemia and associated infection. Read More

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http://dx.doi.org/10.1111/bjh.17014DOI Listing

Childhood allergy is preceded by an absence of gut lactobacilli species and higher levels of atopy-related plasma chemokines.

Clin Exp Immunol 2020 Jul 11. Epub 2020 Jul 11.

Department of Molecular Biosciences, The Wenner-Gren Institute, Stockholm University, Stockholm, Sweden.

Alterations in the composition and reduced diversity of the infant microbiome are associated with allergic disease in children. Further, an altered microbiota is linked to immune dysregulation, including skewing of different T-helper (Th)-subsets, which is also seen in atopic individuals. The aim of this study was therefore to investigate the associations between gut lactobacilli and Th-related plasma factors in allergy-development during childhood. Read More

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http://dx.doi.org/10.1111/cei.13494DOI Listing

Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: a systematic review and meta-analysis.

Acta Obstet Gynecol Scand 2020 Jul 11. Epub 2020 Jul 11.

Center for Fetal Care and High-risk Pregnancy, Department of Obstetrics and Gynecology, University Hospital of Chieti, Chieti, Italy.

Introduction: Corpus callosum agenesis (ACC) is frequently diagnosed during fetal life; its prognosis depends also on additional anomalies. The additional value of fetal magnetic resonance imaging (MRI) in fetuses with 'isolated' complete (cACC) and partial (pACC) agenesis of the corpus callosum on ultrasound is still debated.

Material And Methods: We performed a systematic literature review and meta-analysis including fetuses with a prenatal diagnosis of cACC and pACC without associated structural anomalies on ultrasound, undergoing fetal MRI. Read More

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http://dx.doi.org/10.1111/aogs.13958DOI Listing

Clinical characteristics and outcome of SARS-CoV-2 infection in Italian pediatric oncology patients: a study from the Infectious Diseases Working Group of the AIEOP.

J Pediatric Infect Dis Soc 2020 Jul 11. Epub 2020 Jul 11.

Pediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy.

Background: Little is known as yet about the outcome of SARS-CoV-2 infection in children being treated for cancer.

Methods: We collected information on the clinical characteristics and outcomes of a cohort of 29 children (16 females and 13 males, median age 7 years, range [0-16]) diagnosed with SARS-CoV-2 infection while on chemotherapy/immunotherapy (N=26), or after stem cell transplantation (N=3) during the peak of the epidemic in Italy. These patients suffered from leukemia (N=16), lymphoma (N=3), solid tumors (N=10), and Langerhans cell histiocytosis (N=1). Read More

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http://dx.doi.org/10.1093/jpids/piaa088DOI Listing

Guillain-Barre Syndrome Associated with SARS-CoV-2 Detection and a COVID-19 Infection in a Child.

J Pediatric Infect Dis Soc 2020 Jul 11. Epub 2020 Jul 11.

Faculty of Behavioral, Management and Social Sciences, Department Psychology, Health and Technology, University of Twente, Enschede, The Netherlands.

Coronavirus disease (COVID-19) is caused by SARS-CoV-2. Physicians in China reported what is believed to be the first adult case of a SARS-CoV-2 infection associated with acute Guillain-Barré syndrome (GBS), followed by five adult Italian patients and another case in the United States of America. In the current report we present one of the first descriptions of an association of GBS and SARS-CoV-2 infection within a child. Read More

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http://dx.doi.org/10.1093/jpids/piaa086DOI Listing

Hospitalizations among children involved in the child protection system: A long-term birth cohort study from infancy to adulthood using administrative data.

Child Abuse Negl 2020 Jul 8;107:104518. Epub 2020 Jul 8.

Australian Centre for Precision Health, University of South Australia, Adelaide, South Australia, Australia.

Background: Despite considerable health consequences of child abuse and neglect, there is limited evidence on hospitalizations in this population.

Objectives: To describe frequency and reasons for hospitalization by lifetime child protection system (CPS) involvement.

Participants: 608,540 children born from January 1, 1986 to June 30, 2017 in South Australia, Australia METHODS: Using linked administrative data on CPS involvement and hospitalizations, we descriptively examined cumulative incidence, cumulative count and reasons for hospitalization from infancy to early adulthood by CPS involvement. Read More

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http://dx.doi.org/10.1016/j.chiabu.2020.104518DOI Listing

What works for adolescents with borderline personality disorder: towards a developmentally informed understanding and structured treatment model.

Curr Opin Psychol 2020 Jun 21;37:7-12. Epub 2020 Jun 21.

Anna Freud National Centre for Children and Families, England, United Kingdom.

The efficacy of treatment of borderline personality disorder in adolescents is an underresearched area. Although increasing research in borderline personality disorder in adolescents has emerged over the last decade there is a paucity of knowledge about how treatment is adequately designed for this group of patients. As a consequence, it is currently difficult to provide evidence-based guidelines and firm recommendations for how to design and implement borderline treatment in adolescence. Read More

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http://dx.doi.org/10.1016/j.copsyc.2020.06.008DOI Listing

Sudden death by massive systemic embolism from cardiac myxoma. Role of the clinical autopsy and review of literature.

Cardiovasc Pathol 2020 May 23;49:107244. Epub 2020 May 23.

Area of Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Istituto di Anatomia Patologica, Università Cattolica Del Sacro Cuore, Rome, Italy.

Cardiac myxoma is a rare benign neoplasm of the heart. Historically myxomas were incidental findings during autopsies, however improved imaging techniques made these diagnosis possible in living patients, making the surgical treatment of these neoplasms achievable. Cardiac myxomas may occur both sporadically and in a familial context, often in the clinico-pathological picture of the Carney complex. Read More

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http://dx.doi.org/10.1016/j.carpath.2020.107244DOI Listing

The state of the science in opioid policy research.

Drug Alcohol Depend 2020 Jun 27;214:108137. Epub 2020 Jun 27.

RAND Corporation, 4570 Fifth Ave #600, Pittsburgh, PA, 15213, USA; Department of Psychiatry, University of Pittsburgh School of Medicine, 3811 O'Hara Street, Pittsburgh, PA, 15213, USA.

Objective: Characterize the state of the science in opioid policy research based on a literature review of opioid policy studies.

Methods: We conducted a scoping review of studies evaluating the impact of U.S. Read More

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http://dx.doi.org/10.1016/j.drugalcdep.2020.108137DOI Listing

Social anxiety among unaccompanied minor refugees in Norway.The association with pre-migration trauma and post-migration acculturation related factors.

J Psychosom Res 2020 Jun 24;136:110175. Epub 2020 Jun 24.

Norwegian Institute of Public Health, Department of Child Health and Development, Norway.

Objective: Unaccompanied refugee minors (URMs), are at high risk for mental health problems, yet there is a lack of knowledge about social anxiety among these youths. The aim of this study was to investigate symptoms of social anxiety among URMs resettled in Norway, and the combined effects of pre-migration traumatic events, post-migration acculturation related factors (perceived discrimination and culture competence in relation both to the heritage and majority cultures) and demographic background variables, over and above the effect of concurrent depressive symptoms.

Methods: Cross-sectional self-report questionnaire data were collected from 557 URMs from 31 different countries, mainly from Afghanistan (49,6%), Somalia (11,1%), and Iraq (7,0%). Read More

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http://dx.doi.org/10.1016/j.jpsychores.2020.110175DOI Listing

Steroids receptors immunohistochemical expression in different sites of endometriosis.

J Gynecol Obstet Hum Reprod 2020 Jul 8:101861. Epub 2020 Jul 8.

Department of Integrated Surgical and Diagnostic Sciences (DISC), University of Genova, Genova, Italy; Academic Unit of Pathology, IRCCS Ospedale Policlinico San Martino, Genova, Italy.

Background: A better characterization of steroid intracrine pathways in endometriosis lesions may lead to a better understanding of the pathogenesis of the disease and insights on the mechanism of resistance to medical therapy. The study aims to evaluate the expression of steroid receptors in endometriosis lesions, including for the first-time androgen receptors, both in glandular and stromal tissue, and to describe the differences, in any, in receptor expression in the different subtypes.

Basic Procedures: This is a retrospective analysis of 76 specimens from 51 women, that underwent laparoscopic surgery for endometriosis at a tertiary hospital between 2015 and 2019. Read More

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http://dx.doi.org/10.1016/j.jogoh.2020.101861DOI Listing

Spinal cord stimulation in the treatment of pediatric erythromelalgia.

World Neurosurg 2020 Jul 8. Epub 2020 Jul 8.

Department of Anesthesiology, Pain and Perioperative Medicine, The First Affiliated Hospital of Zhengzhou University. Electronic address:

Objective: In children, erythromelalgia is a rare but difficult-to-manage condition that bilateral episodic pain and redness occur in distal extremities. It is heat intolerance and relieved by cooling. Management of erythromelalgia is difficult and requires a complex multidisciplinary approach. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.06.231DOI Listing

Vertical transmission and materno-fetal outcomes in 13 patients with COVID-19.

Clin Microbiol Infect 2020 Jul 8. Epub 2020 Jul 8.

Materno-Fetal and Obstetrics Research Unit, Department "Woman-Mother-Child", Lausanne University Hospital, Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.cmi.2020.06.035DOI Listing

A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood.

Eur J Med Genet 2020 Jul 8:104002. Epub 2020 Jul 8.

Robert's Program for Sudden Unexpected Death in Pediatrics, Boston Children's Hospital, USA; Department of Pediatrics, Harvard Medical School, USA; Division of General Pediatrics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. Electronic address:

Sudden Unexplained Death in Childhood (SUDC), the death of a child that remains unexplained after a complete autopsy and investigation, is a rare and poorly understood entity. This case report describes a 3-year-old boy with history of language delay and ptosis, who died suddenly in his sleep without known cause. A pathogenic de novo frameshift mutation in BRPF1, a gene which has been associated with the syndrome of Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), was identified during a post-mortem evaluation. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.104002DOI Listing

Reframing High-Quality Public Preschool as a Vehicle for Narrowing Child Health Disparities Based on Family Income.

Acad Pediatr 2020 Jul 8. Epub 2020 Jul 8.

Early Childhood Education Institute, University of Oklahoma - Tulsa, 4502 E. 41(st) Street, Room 4W-123, Tulsa, OK 74135, (918) 660-3187. Electronic address:

Past research shows that high-quality public preschool may disproportionately support low-income children's school readiness, because low-income children tend to arrive at school with fewer of the academic skills needed for success. This suggests a compensatory process in human development in which the children who benefit most from a promotive factor are those who stand to gain the most. We propose that high-quality public preschool may similarly confer its greatest health rewards to low-income children, who are generally in poorer health than their peers. Read More

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http://dx.doi.org/10.1016/j.acap.2020.07.004DOI Listing

CHEST Reviews: Addressing reduced laboratory-based pulmonary function testing during a pandemic.

Chest 2020 Jul 8. Epub 2020 Jul 8.

University of Toronto, Department of Medicine, Canada; Division of Respirology, Department of Medicine, Toronto General Hospital, University Health Network, Canada; University of Toronto, Department of Medicine, Canada.

To reduce the spread of SARS-CoV-2, many pulmonary function testing (PFT) laboratories have been closed or have significantly reduced their testing capacity. As these mitigation strategies may be necessary for the next 6-18 months to prevent recurrent peaks in disease prevalence, fewer objective measurements of lung function will alter the diagnosis and care of patients with chronic respiratory diseases. PFTs, which include spirometry, lung volumes, and diffusion capacity measurement, are essential to the diagnosis and management of patients with asthma, COPD, and other chronic lung conditions. Read More

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http://dx.doi.org/10.1016/j.chest.2020.06.065DOI Listing

Single- versus multiple-unit transfusion in hemodynamically stable postpartum anemia: a pragmatic randomized, controlled trial.

Am J Obstet Gynecol 2020 Jul 8. Epub 2020 Jul 8.

Maternal and Child Health Research Center, Department of Obstetrics & Gynecology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

Background: The American Academy of Blood Banks recommends single-unit red cell transfusion protocols across medicine to reduce transfusion complications and use of a scarce resource. There is minimal data regarding single-unit protocols within obstetrics.

Objective: We aimed to compare a single- vs. Read More

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http://dx.doi.org/10.1016/j.ajog.2020.07.007DOI Listing

Breastmilk Feeding Practices Are Associated with the Co-Occurrence of Bacteria in Mothers' Milk and the Infant Gut: the CHILD Cohort Study.

Cell Host Microbe 2020 Jul 9. Epub 2020 Jul 9.

Children's Hospital Research Institute of Manitoba and Developmental Origins of Chronic Diseases in Children Network (DEVOTION), Winnipeg, MB, Canada; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada. Electronic address:

Gut microbiota play a critical role in infant health. It is now accepted that breastmilk contains live bacteria from endogenous and exogenous sources, but it remains unclear whether these bacteria transfer to the infant gut and whether this process is influenced by breastmilk feeding practices. Here, we show that certain bacteria, including Streptococcus spp. Read More

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http://dx.doi.org/10.1016/j.chom.2020.06.009DOI Listing

A Chicken Production Intervention and Additional Nutrition Behavior Change Component Increased Child Growth in Ethiopia: A Cluster-Randomized Trial.

J Nutr 2020 Jul 11. Epub 2020 Jul 11.

Department of Global Health and Population, Harvard TH Chan School of Public Health, Boston, MA, USA.

Background: Chicken production in the context of nutrition-sensitive agriculture may benefit child nutrition in low-income settings.

Objectives: This study evaluated effects of 1) a chicken production intervention [African Chicken Genetic Gains (ACGG)], and 2) the ACGG intervention with nutrition-sensitive behavior change communication (BCC) [ACGG + Agriculture to Nutrition (ATONU)], on child nutrition and health outcomes and hypothesized intermediaries.

Methods: Forty ACGG villages received 25 genetically improved chickens and basic husbandry guidance; of these, 20 ACGG + ATONU villages in addition received a nutrition-sensitive behavior change and homegardening intervention; 20 control clusters received no intervention. Read More

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http://dx.doi.org/10.1093/jn/nxaa181DOI Listing

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype.

Mol Diagn Ther 2020 Jul 10. Epub 2020 Jul 10.

Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, 350001, Fujian, China.

Background: Aortic arch abnormalities (AAA) are abnormal embryologic developments of the aorta and its branches. Their outcomes often depend on their association with other congenital diseases and genetic testing results.

Objective: This study aimed to evaluate the yield of chromosomal microarray analysis (CMA) in fetuses with different patterns of AAA and normal karyotype. Read More

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http://dx.doi.org/10.1007/s40291-020-00474-7DOI Listing

Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome.

Neurol Sci 2020 Jul 10. Epub 2020 Jul 10.

Institute of Biostructure and Bioimaging, National Research Council, Naples, Italy.

Purpose: Moyamoya syndrome (MMS) is a rare intracranial arterial vasculopathy which can occur in neurofibromatosis type 1 (NF1) disease, representing a cause of cerebrovascular reserve (CVR) impairment, possibly leading to ischemic stroke. Here, we evaluated noninvasive imaging techniques used to assess CVR in MMS patients, describing clinical and imaging findings in patients affected by MMS-NF1.

Methods: Following strict inclusion and exclusion criteria, in this retrospective observational study, we evaluated imaging data of nine consecutive MMS-NF1 patients (M/F = 5/4, mean age: 12. Read More

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http://dx.doi.org/10.1007/s10072-020-04574-4DOI Listing

Chronic immune sensory polyradiculopathy (CISP): First juvenile case description.

Neurol Sci 2020 Jul 10. Epub 2020 Jul 10.

Humanitas Clinical and Research Institute, Milan, Italy.

In its typical presentation, chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) occurs more often in old males as a progressive/recurrent motor and sensory nerve dysfunction with tendon areflexia. However, CIDP has also atypical clinical presentations, including pure sensory neuropathies, among which chronic immune sensory polyradiculopathy (CISP) accounts for only 0.5% of all CIDP, with no juvenile cases reported as yet. Read More

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http://dx.doi.org/10.1007/s10072-020-04588-yDOI Listing

Factors Affecting Family Compliance with Genetic Testing of Children Diagnosed with Autism Spectrum Disorder.

J Autism Dev Disord 2020 Jul 10. Epub 2020 Jul 10.

National Autism Research Center of Israel, Ben-Gurion University, Beer-Sheva, Israel.

There is broad consensus about the importance of post-diagnostic genetic testing for children with ASD. However, the extent of compliance with these tests and the factors affecting compliance have rarely been examined. We surveyed a sample of 114 families with a child with ASD in Israel, where such genetic testing is funded by the government. Read More

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http://dx.doi.org/10.1007/s10803-020-04589-yDOI Listing

Persistent aseptic meningitis in a child-think patch.

Wien Med Wochenschr 2020 Jul 10. Epub 2020 Jul 10.

Hospital for General Paediatrics and Neonatology, Saarland University Medical Center, Homburg/Saar, Germany.

Background: In patients with neurosurgical interventions requiring dura reconstruction, the use of bovine graft material may be required.

Patients And Methods: Case report.

Results: We present a 12-year-old girl with a profound graft reaction with severe neurologic symptoms mimicking post-neurosurgical bacterial meningitis after resection of an infra-tentorial brain tumour. Read More

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http://dx.doi.org/10.1007/s10354-020-00765-yDOI Listing

Early functional MRI changes in a prodromal semantic variant of primary progressive aphasia: a longitudinal case report.

J Neurol 2020 Jul 10. Epub 2020 Jul 10.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.

Objective: To assess longitudinal patterns of brain functional MRI (fMRI) activity in a case of prodromal semantic variant of a primary progressive aphasia (svPPA).

Methods: Clinical, cognitive and neuroimaging data (T1-weighted and task-based fMRI during silent naming [SN] and object knowledge [OK]) were obtained at baseline, month 8 and month 16 from a 49-year-old lady presenting with anomias and evolving to overt svPPA in 8 months.

Results: At baseline, the patient showed isolated anomias and mild left anterior temporal pole atrophy. Read More

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http://dx.doi.org/10.1007/s00415-020-10053-9DOI Listing

Non-congenital viral infections of the central nervous system: from the immunocompetent to the immunocompromised child.

Pediatr Radiol 2020 Jul 10. Epub 2020 Jul 10.

Neuroradiology Unit, NESMOS Department, Sapienza University, Rome, Italy.

Non-congenital viral infections of the central nervous system in children can represent a severe clinical condition that needs a prompt diagnosis and management. However, the aetiological diagnosis can be challenging because symptoms are often nonspecific and cerebrospinal fluid analysis is not always diagnostic. In this context, neuroimaging represents a helpful tool, even though radiologic patterns sometimes overlap. Read More

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http://dx.doi.org/10.1007/s00247-020-04746-6DOI Listing

Forensic mental health in Europe: some key figures.

Soc Psychiatry Psychiatr Epidemiol 2020 Jul 10. Epub 2020 Jul 10.

Department of Forensic Psychiatry, University of Rostock, Gehlsheimer Straße 20, 18147, Rostock, Germany.

Purpose: While the number of forensic beds and the duration of psychiatric forensic psychiatric treatment have increased in several European Union (EU) states, this is not observed in others. Patient demographics, average lengths of stay and legal frameworks also differ substantially. The lack of basic epidemiological information on forensic patients and of shared indicators on forensic care within Europe is an obstacle to comparative research. Read More

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http://dx.doi.org/10.1007/s00127-020-01909-6DOI Listing

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

J Hum Genet 2020 Jul 10. Epub 2020 Jul 10.

Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

TDP2 encodes a 5'-tyrosyl DNA phosphodiesterase required for the efficient repair of double-strand breaks (DSBs) induced by the abortive activity of DNA topoisomerase II (TOP2). To date, only three homozygous variants in TDP2 have been reported in six patients from four unrelated pedigrees with spinocerebellar ataxia 23 (SCAR23). By whole-exome sequencing, we identified a novel TDP2 splice-site variant (c. Read More

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http://dx.doi.org/10.1038/s10038-020-0800-4DOI Listing

Underlying Mechanism of Insulin Resistance: A Bioinformatics Analysis Based on Validated Related-Genes from Public Disease Databases.

Med Sci Monit 2020 Jul 11;26:e924334. Epub 2020 Jul 11.

Department of Pharmacy, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China (mainland).

BACKGROUND The underlying mechanism of insulin resistance is complex; bioinformatics analysis is used to explore the mechanism based differential expression genes (DEGs) obtained from omics analysis. However, the expression and role of most DEGs involved in bioinformatics analysis are invalidated. This study aimed to disclose the mechanism of insulin resistance via bioinformatics analysis based on validated insulin resistance-related genes (IRRGs) collected from public disease-gene databases. Read More

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http://dx.doi.org/10.12659/MSM.924334DOI Listing

Establishing a pediatric occupational therapy clinic in the public-sector in Trinidad: The quest for clinical and professional expansion.

Work 2020 Jul 10. Epub 2020 Jul 10.

Boston University, Boston, MA, USA.

Background: Pediatric occupational therapy (OT) in Trinidad is limited to costly private sector provision, which restricts access to only those families that can afford it. Public-sector healthcare, however, is offered free of charge to citizens. Establishing public-sector OT can increase the well-being and quality of life of children with disabilities and their families, as well as broaden the professional paths available to occupational therapists. Read More

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http://dx.doi.org/10.3233/WOR-203209DOI Listing

Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report.

J Neuromuscul Dis 2020 Jul 6. Epub 2020 Jul 6.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Ogawahigashi, Kodaira, Tokyo, Japan.

Background: Few studies have examined respiratory dysfunction in patients with Becker muscular dystrophy (BMD).

Objective: This study aimed to examine the characteristics of respiratory dysfunction in patients with BMD.

Methods: The present retrospective study assessed respiratory parameters of adult BMD patients using medical records and compared these parameters with various patient characteristics to identify correlations. Read More

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http://dx.doi.org/10.3233/JND-190438DOI Listing

Epidemiology and Clinical Features of Coronavirus Disease 2019 in Moroccan Children.

Indian Pediatr 2020 Jul 7. Epub 2020 Jul 7.

Department of Pediatrics, Child and Mother Hospital, Mohammed VI University Hospital Center, Marrakesh Medical and Pharmacy Faculty, Caddy Ayad University, Marrakesh, Morocco.

Objectives: This study aims to analyze the epidemiological and clinical features of coronavirus disease 19 (COVID-19) in a Moroccan pediatric population.

Methods: A retrospective study of a cohort of 74 children with RT-PCR confirmed COVID-19. We collected information on clinical and laboratory features of all children (age <18 years) admitted between 2 March, 2020 and 1 April, 2020. Read More

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A randomized, placebo-controlled phase 2 trial of laquinimod in primary progressive multiple sclerosis.

Neurology 2020 Jul 10. Epub 2020 Jul 10.

From Queen Mary University of London, Blizard Institute, Barts and The London School of Medicine and Dentistry, London, UK (G.G.); Teva Pharmaceuticals R&D, Teva Pharmaceutical Industries, Great Valley, Pennsylvania, USA and Department of Neurology, Medical Faculty, Heinrich-Heine Universität Düsseldorf, Düsseldorf, Germany (V.K.); Teva Pharmaceutical Industries, Malvern, Pennsylvania, USA (J. S.); Teva Pharmaceutical Industries, Malvern, Pennsylvania, USA (A. T.); Teva Pharmaceutical Industries, Great Valley, Pennsylvania, USA (T. L.); Corinne Goldsmith Dickinson Center for Multiple Sclerosis, Icahn School of Medicine at Mount Sinai, New York, NY, USA (S.K.); Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health and Center of Excellence for Biomedical Research, University of Genoa, and Ospedale Policlinico San Martino-IRCCS, Genoa, Italy (A.U.); Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Neurology, MS Center Amsterdam, Amsterdam, The Netherlands (B.M.J.U.); Division of Neurology, University of Toronto/MS Centre St Michael's Hospital, Toronto, Canada (X.M.); Neurology-Neuroimmunology Department & Neurorehabilitation Unit, Multiple Sclerosis Centre of Catalonia, Barcelona, Spain (X.M.); Department of Neurology, Hospital Universitari de la Vall d'Hebron, Barcelona, Spain (X.M.); Department of Neurology, Medical Faculty, Heinrich-Heine University of Düsseldorf, Düsseldorf, Germany (H.H.); Department of Health Sciences, University of Genoa, Genoa, Italy (M. P. S.); Weill Institute for Neurosciences, Department of Neurology, University of California San Francisco, San Francisco, CA, USA (B.A.C.C.); Saunders Family Professor of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA (F.L.); Radiology & Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands, and UCL Institutes of Neurology and Healthcare Engineering, London, UK (F.B.).

Objective: To evaluate efficacy, safety, and tolerability of laquinimod in patients with primary progressive multiple sclerosis (PPMS).

Methods: In the randomized, double-blind, placebo-controlled, phase 2 study ARPEGGIO (A Randomized Placebo-controlled trial Evaluating laquinimod in PPMS, Gauging Gradations In MRI and clinical Outcomes), eligible PPMS patients were randomized 1:1:1 to receive once-daily oral laquinimod 0.6 mg or 1. Read More

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http://dx.doi.org/10.1212/WNL.0000000000010284DOI Listing

Tracking the reach of COVID-19 kin loss with a bereavement multiplier applied to the United States.

Proc Natl Acad Sci U S A 2020 Jul 10. Epub 2020 Jul 10.

Department of Sociology and Criminology, Pennsylvania State University, University Park, PA 16802.

The coronavirus disease 2019 (COVID-19) pandemic has led to a large increase in mortality in the United States and around the world, leaving many grieving the sudden loss of family members. We created an indicator-the COVID-19 bereavement multiplier-that estimates the average number of individuals who will experience the death of a close relative (defined as a grandparent, parent, sibling, spouse, or child) for each COVID-19 death. Using demographic microsimulation-based estimates of kinship networks in the United States, the clear age gradient in COVID-19 mortality seen across contexts, and several hypothetical infection prevalence scenarios, we estimate COVID-19 bereavement multipliers for White and Black individuals in the United States. Read More

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http://dx.doi.org/10.1073/pnas.2007476117DOI Listing

Paternal exposure to antiepileptic drugs and offspring outcomes: a nationwide population-based cohort study in Sweden.

J Neurol Neurosurg Psychiatry 2020 Jul 10. Epub 2020 Jul 10.

Clinical Epidemiology Unit, Department of Medicine Solna, Karolinska Institute, Stockholm, Sweden.

Objectives: To investigate the association between paternal use of antiepileptic drugs (AEDs) and adverse neurodevelopmental outcomes and major congenital malformations (MCM) in the offspring.

Methods: Using nationwide Swedish registries, we included 1 144 795 births to 741 726 fathers without epilepsy and 4544 births to 2955 fathers with epilepsy. Of these, 2087 (45. Read More

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http://dx.doi.org/10.1136/jnnp-2020-323028DOI Listing

The Disabled homolog 2 controls pro-metastatic activity of tumor-associated macrophages.

Cancer Discov 2020 Jul 10. Epub 2020 Jul 10.

Department of Medicine, Section of Immunology, University of Verona

Tumor-associated macrophages (TAMs) are regulators of extracellular matrix (ECM) remodeling and metastatic progression, the main cause of cancer-associated death. We found that disabled 2 mitogen-responsive phosphoprotein (DAB2) is highly expressed in tumor-infiltrating TAMs and its genetic ablation significantly impairs lung metastasis formation. DAB2-expressing TAMs, mainly localized along the tumor invasive front, participate in integrin recycling, ECM remodeling and directional migration in a tridimensional matrix. Read More

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http://dx.doi.org/10.1158/2159-8290.CD-20-0036DOI Listing

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

Mol Genet Metab 2020 Jun 24. Epub 2020 Jun 24.

Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address:

Introduction: 6-Pyruvoyl-tetrahydropterin synthase deficiency (PTPSd) is a rare autosomal recessive disorder of synthesis of biogenic amines, which is characterized by variable neurological impairment and hyperphenylalaninemia. We aimed to assess the long-term clinical outcome of this disorder and the factors affecting it.

Methods: At total of 28 PTPSd patients (aged 19. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.06.009DOI Listing

Multidimensional analysis of genetic background and environmental factors: Cases of atopy in asthmatic children.

Arch Pediatr 2020 Jul 7. Epub 2020 Jul 7.

Department of Cellular Biology, Faculty of Biological Sciences, Blida 1 University, Blida, Algeria.

The present work aimed, through a multidimensional analysis of a data set related to 76 asthmatic children (2-16 years), to their family, and to their antecedents, to establish typical profiles of children with asthma, combining similar or even identical characteristics. A questionnaire was presented to the parents concerning possible consanguinity, prematurity of the child, birth order, skin prick test results, presence of animals, indoor dampness, medical history, and cases of atopy among the children and their antecedents. The links between variables were first identified by means of chi-square tests. Read More

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http://dx.doi.org/10.1016/j.arcped.2020.05.011DOI Listing

Effects of Exergaming on Cognitive and Social Functioning of People with Dementia: A Randomized Controlled Trial.

J Am Med Dir Assoc 2020 Jul 7. Epub 2020 Jul 7.

Department of Psychiatry, Amsterdam UMC, VUmc, Amsterdam, the Netherlands; Amsterdam Public Health Research Institute, Amsterdam, the Netherlands.

Objectives: Physical activity in people with dementia (PwD) may enhance physical and mental functioning. Exergaming, which combines physical exercise with cognitive stimulation in a gaming environment, was developed to overcome barriers in performing physical activities. We evaluated the effects of exergaming in day care centers (DCCs) for PwD and informal caregivers (ICs). Read More

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http://dx.doi.org/10.1016/j.jamda.2020.04.018DOI Listing

Cost analysis of supplemental immunization activities to deliver measles immunization to children in Anambra state, south-east Nigeria.

Vaccine 2020 Jul 7. Epub 2020 Jul 7.

Department of Health Administration and Management, University of Nigeria, Enugu Campus, Enugu, Nigeria.

Background: Measles immunization is critical for reducing the societal burden of the disease, especially among children. However, the costs of the measles supplemental immunization activities, which are the main vaccine deployment strategy, are usually high and financing such immunization activities is a serious challenge in Nigeria. In Nigeria, little or no information exists on the costs of measles supplemental immunization activity for planning and sustenance of immunization programmes. Read More

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http://dx.doi.org/10.1016/j.vaccine.2020.06.072DOI Listing

Decreasing Opioid Use in Pediatric Lower Extremity Trauma: A Quality Improvement Project.

J Pediatr Health Care 2020 Jul 8. Epub 2020 Jul 8.

Introduction: Perioperative anxiety increases postoperative pain and the risk of complications in hospitalized children. Nonpharmacologic pain resources provided by Certified Child Life Specialists (CCLS) are a viable adjunct for pain management.

Method: A routine CCLS consult was implemented for patients admitted to the orthopedic service with traumatic lower extremity injuries requiring surgery. Read More

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http://dx.doi.org/10.1016/j.pedhc.2020.05.001DOI Listing

Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.

Eur J Paediatr Neurol 2020 Jun 23. Epub 2020 Jun 23.

Pediatric Neurology and Muscular Diseases Unit, IRCCS "G. Gaslini" Institute, Genova, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.

Prrt2 is a neuron-specific protein expressed at axonal and pre-synaptic domains, involved in synaptic neurotransmitter release and modulation of intrinsic excitability. Mutations in PRRT2 cause a spectrum of autosomal dominant paroxysmal neurological disorders including epilepsy, movement disorders, and hemiplegic migraine and show incomplete penetrance and variable expressivity. We assessed the diagnostic rate of PRRT2 in a cohort of Italian patients with epilepsy and/or paroxysmal kinesigenic dyskinesia (PKD) and evaluated genotype-phenotype correlations. Read More

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http://dx.doi.org/10.1016/j.ejpn.2020.06.005DOI Listing
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