201,254 results match your criteria disease onset

Impact of short stature on quality of life: A systematic literature review.

Growth Horm IGF Res 2021 Apr 30;57-58:101392. Epub 2021 Apr 30.

UCL Great Ormond Street Institute of Child Health, London, UK.

Objective: We sought to obtain a better understanding of the burden of short stature using a systematic literature review.

Methods: Studies of the burden of short stature, of any cause in adults and children, were searched using Embase, MEDLINE and Cochrane databases in April 2020, capturing publications from 2008 onwards. Case series and populations with adult-onset growth hormone deficiency (GHD) were excluded. Read More

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Costs of Epilepsy in Austria: Unemployment as a primary driving factor.

Seizure 2021 Apr 30;89:24-29. Epub 2021 Apr 30.

Klinik Hietzing and Karl Landsteiner Institute for Clinical Epilepsy Research and Cognitive Neurology, Vienna, Austria.

Purpose: Epilepsy is one of the most common chronic neurological disorders, and long-term treatment with antiseizure medication is often central to its management. The costs of antiseizure medication are more evident than other disease-related costs; thus, we assessed the direct and indirect costs of epilepsy focusing on both drug expenditure and other cost-driving factors.

Methods: Outpatient records and questionnaires applied in a tertiary epilepsy centre in Vienna were used in this bottom-up cost-of-illness study to evaluate disease duration, age at onset, epilepsy syndrome, seizure frequency, sex, healthcare utilisation, diagnostic evaluations, antiseizure medication, and occupation. Read More

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Incidence and risk factors for severe preeclampsia, HELLP syndrome and eclampsia at preterm and term gestation: a population-based study.

Am J Obstet Gynecol 2021 May 8. Epub 2021 May 8.

Department of Obstetrics and Gynaecology, University of British Columbia, and the Children's and Women's Hospital and Health Centre of British Columbia, Vancouver, BC, Canada; School of Population and Public Health, University of British Columbia, Vancouver, BC, Canada.

Background: A majority of previous studies of severe preeclampsia, eclampsia and HELLP (hemolysis, elevated liver enzymes and low platelets) syndrome were hospital-based or included a relatively small number of women. Large population-based studies examining gestational age-specific incidence patterns and risk factors for these severe pregnancy complications are lacking.

Objectives: To assess gestational age-specific incidence rates and risk factors for severe preeclampsia, HELLP syndrome, and eclampsia. Read More

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Vestibular Function in Older Adults With Cognitive Impairment: A Systematic Review.

Ear Hear 2021 Apr 22. Epub 2021 Apr 22.

1Department of Translational Neurosciences, University of Antwerp, Antwerp, Belgium 2Department of Otorhinolaryngology-Head and neck surgery, Antwerp University Hospital, Edegem, Belgium 3Department of Education, Health & Social Work, University College Ghent, Ghent, Belgium 4Department of Neurology, UZ Brussel and Center for Neurosciences (C4N), VUB, Brussels, Belgium 5Department of Biomedical Sciences and Institute Born-Bunge, University of Antwerp, Antwerp, Belgium 6Department of Neurology, Antwerp University Hospital, Edegem, Belgium.

Importance: Given the rising prevalence of patients with dementia and those at risk for it, early identification is prioritized. As vestibular dysfunction is associated with Alzheimer's disease (AD) and may contribute to its onset, vestibular assessment may yield an opportunity in early dementia screening.

Objective: This systematic review structures and compares the different raw outcome measures used to assess vestibular function while comparing older adults with preserved cognition to individuals with cognitive impairment, either suffering from mild cognitive impairment (MCI) or AD. Read More

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Voluntary and magnetically evoked muscle contraction protocol in males with Duchenne muscular dystrophy: safety, feasibility, reliability, and validity.

Muscle Nerve 2021 May 11. Epub 2021 May 11.

Division of Rehabilitation Science, Department of Rehabilitation Medicine, Medical School-University of Minnesota, Minneapolis, MN.

Introduction: Clinical trials addressing treatments for Duchenne muscular dystrophy (DMD) require reliable and valid measurement of muscle contractile function across all disease severity levels. This work aimed to evaluate a protocol combining voluntary and evoked contractions to measure strength and excitability of wrist extensor muscles, for safety, feasibility, reliability, and discriminant validity between males with DMD and controls.

Methods: Wrist extensor muscle strength and excitability were assessed in males with DMD (N=10; mean 15. Read More

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Clinical-Epidemiological Characteristics of the First Patients Diagnosed with COVID-19 in Cuba.

MEDICC Rev 2021 Apr 30;23(2):15. Epub 2021 Apr 30.

Pedro Kourí Tropical Medicine Institute (IPK), Havana, Cuba.

Introduction: COVID-19 is caused by the novel coronavirus SARS-CoV-2 and was declared a pandemic on March 11, 2020, the same day that the first cases in Cuba were diagnosed. In Cuba, all confirmed cases of COVID-19 were hospitalized from this point forward.

Objective: Characterize the first patients diagnosed with COVID-19 in Cuba. Read More

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Prodromal sensory neuropathy in Pink1 SNCA double mutant Parkinson mice.

Neuropathol Appl Neurobiol 2021 May 11. Epub 2021 May 11.

Institute for Clinical Pharmacology, Faculty of Medicine, Goethe-University, Frankfurt, Germany.

Aims: Parkinson's Disease (PD) is frequently associated with a prodromal sensory neuropathy manifesting with sensory loss and chronic pain. We have recently shown that PD-associated sensory neuropathy in patients is associated with high levels of glucosylceramides. Here, we assessed the underlying pathology and mechanisms in Pink1 SNCA double mutant mice. Read More

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[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):414-418

National Clinical Research Center for Child Health and Disease, Children's Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaricacidemia type II, is a relatively common disorder of fatty acid oxidation metabolism. The clinical manifestations are highly heterogeneous, symptoms can develop from newborn to adulthood. Neonatal onset type is more serious with high mortality. Read More

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Expansion of GARP-Expressing CD4CD25FoxP3 T Cells and SATB1 Association with Activation and Coagulation in Immune Compromised HIV-1-Infected Individuals in South Africa.

Virol Sin 2021 May 11. Epub 2021 May 11.

Centre for Cardio-Metabolic Research in Africa (CARMA), Department of Physiological Sciences, Stellenbosch University, Stellenbosch, 7600, South Africa.

Although antiretroviral treatment lowers the burden of human immunodeficiency virus (HIV)-related disease, it does not always result in immunological recovery. This manifests as persistent chronic inflammation, immune activation or exhaustion that can promote the onset of co-morbidities. As the exact function of regulatory T (Treg) cells in HIV remains unclear, this cross-sectional study investigated three expression markers (Forkhead box protein P3 [FOXP3], glycoprotein A repetitions predominant [GARP], special AT-rich sequence binding protein 1 [SATB1]) and compared their expansion between CD4CD25 and CD4CD25 T cells. Read More

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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.

Acta Neuropathol 2021 May 11. Epub 2021 May 11.

Folkhälsan Research Center, Helsinki, Finland.

Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified in ten patients from nine families in five different countries, suggesting that this disease could be prevalent in other populations as well. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. Read More

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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.

Hum Genet 2021 May 11. Epub 2021 May 11.

Department of Neurobiology and Anatomy, MSB 7.046, McGovern Medical School at the University of Texas HSC (UTHealth), 6431 Fannin Street, Houston, TX, 77030, USA.

Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report ten individuals of diverse geographic origin with biallelic STX3 loss-of-function variants, identified through exome sequencing, single-nucleotide polymorphism array-based homozygosity mapping, and international collaboration. Read More

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Similar stage-dependent survival and outcome in sporadic and hereditary medullary thyroid carcinoma.

J Clin Endocrinol Metab 2021 May 11. Epub 2021 May 11.

Endocrine Practice Heidelberg, Molecular Genetic Laboratory, Heidelberg, Germany.

Context: Long-term data are scarce on large cohorts with sporadic (sMTC) and hereditary medullary thyroid carcinoma (hMTC).

Objectives: To compare long-term disease-specific survival (DSS) and outcomes between sMTC and hMTC groups.

Design: Retrospective analysis. Read More

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Diagnosis and Management of Headache: A Review.

JAMA 2021 May;325(18):1874-1885

Department of Neurology, Weill Cornell Medical College, New York, New York.

Importance: Approximately 90% of people in the US experience headache during their lifetime. Migraine is the second leading cause of years lived with disability worldwide.

Observations: Primary headache disorders are defined as headaches that are unrelated to an underlying medical condition and are categorized into 4 groups: migraine, tension-type headache, trigeminal autonomic cephalalgias, and other primary headache disorders. Read More

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GlcNAc is a mast-cell chromatin-remodeling oncometabolite that promotes systemic mastocytosis aggressiveness.

Blood 2021 May 11. Epub 2021 May 11.

Centre de Recherche en Cancérologie de Marseille - Inserm U1068, CNRS UMR7258, Aix-Marseille Université, Institut Paoli-Calmettes, Marseille, France.

Systemic mastocytosis (SM) is a KIT-driven hematopoietic neoplasm characterized by the excessive accumulation of neoplastic mast cells (MCs) in various organs and, mainly, the bone marrow (BM). Multiple genetic and epigenetic mechanisms contribute to the onset and severity of SM. However, little is known to date about the metabolic underpinnings underlying SM aggressiveness, which has thus far impeded the development of strategies to leverage metabolic dependencies when existing KIT-targeted treatments fail. Read More

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Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.

Alzheimer Dis Assoc Disord 2021 May 11. Epub 2021 May 11.

Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Background/purpose: Sporadic early-onset Alzheimer disease (sEOAD) and its visual variant, posterior cortical atrophy (PCA), have a disease onset at less than 65 years of age with no familial aggregation. The etiology and genetic basis of these diseases remain poorly understood. Our study aimed to identify additional mutations or variants associated with sEOAD and PCA and to further examine their genetic and phenotypic spectrums. Read More

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An Agitated Patient With COVID-19 Infection and Early-onset Alzheimer Disease.

Alzheimer Dis Assoc Disord 2021 May 11. Epub 2021 May 11.

Mayo Clinic Alix School of Medicine Department of Psychiatry and Psychology, Mayo Clinic, Scottsdale, AZ.

Encephalopathy, delirium, and agitation are documented symptoms of coronavirus disease (COVID-19) infection, but research into the management of agitation in the setting of COVID-19 and pre-existing neuropsychiatric disease is ongoing. We present a 55-year-old male patient with early-onset Alzheimer disease and deteriorating mental and functional status who presented to our institution with agitation and persistent COVID-19 positivity on polymerase chain reaction testing. His agitation was improved through pharmacologic optimization including the avoidance of benzodiazepines and initiation of clonidine and prazosin, which temporally coincided with the resolution of his nearly 2-month long COVID-19 positivity. Read More

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Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.

Ann Clin Transl Neurol 2021 May 11. Epub 2021 May 11.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Objective: Mutations in the HSPB1 gene are associated with a distal hereditary motor neuropathy type 2 (dHMN2) or Charcot-Marie-Tooth disease type 2F (CMT2F), usually with autosomal dominant inheritance. This study aimed to describe the phenotype of the HSPB1 c.407G>T (p. Read More

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Clinical characteristics and Elevated ProGRP and Positive Oligocolonal Bands of Thirteen Chinese Cases with Anti-GABABR Encephalitis.

Int J Dev Neurosci 2021 May 10. Epub 2021 May 10.

Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China, 251102; Institute of Epilepsy, Shandong University, Jinan, China, 251102.

Objective: To improve the clinical understanding of anti-gamma-aminobutyric-acid B receptor encephalitis (anti-GABABR encephalitis) by analyzing 13 cases.

Methods: We retrospectively studied demographic and clinical features including clinical symptoms, serum/cerebrospinal fluid (CSF) laboratory findings (including antibody test), brain magnetic resonance imaging (MRI), electroencephalogram (EEG), treatment plan, and treatment effect for 13 patients with a definitive diagnosis of anti-GABABR encephalitis.

Results: Seven patients (53. Read More

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[The utility of whole genome sequencing in rare disease diagnostics].

Lakartidningen 2021 May 10;118. Epub 2021 May 10.

professor, överläkare, Klinisk genetik, Karolinska universitetssjukhuset, Stockholm.

If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. Read More

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How COVID-19 Has Globalized: Unknown Origin, Rapid Transmission, and the Immune System Nourishment.

Adv Exp Med Biol 2021 ;1318:119-147

Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.

The novel coronavirus disease (COVID-19) profoundly influences T-cell immunity. The counts of total T cells and T-cell subsets, especially CD4+ and CD8+ T cells, are decreased in patients with COVID-19. Also, the function of these cells becomes less effective as the expression of immune inhibitory receptors, such as Tim3 and PD-1, increases over time during the disease. Read More

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January 2021

Evaluation of inflammatory acquired demyelinating syndromes in children: a single-center experience.

Acta Neurol Belg 2021 May 10. Epub 2021 May 10.

Department of Pediatric Neurology, Cerrahpasa School of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.

To evaluate the clinical and neuroimaging features of pediatric acquired demyelinating syndromes (ADS) in a tertiary pediatric neurology clinic in Turkey. All children diagnosed with any subset of ADS between 2013 and 2018 were included in this retrospective cohort study. Forty-two patients (21 female) with a median follow-up period of 30 months were included. Read More

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Adenosine A2A receptor null chondrocyte transcriptome resembles that of human osteoarthritic chondrocytes.

Purinergic Signal 2021 May 11. Epub 2021 May 11.

Department of Medicine, Division of Rheumatology, NYUGSOM, New York, NY, USA.

Adenosine signaling plays a critical role in the maintenance of articular cartilage and may serve as a novel therapeutic for osteoarthritis (OA), a highly prevalent and morbid disease without effective therapeutics in the current market. Mice lacking adenosine A2A receptors (A2AR) develop spontaneous OA by 16 weeks of age, a finding relevant to human OA since loss of adenosine signaling due to diminished adenosine production (NT5E deficiency) also leads to development of OA in mice and humans. To better understand the mechanism by which A2AR and adenosine generation protect from OA development, we examined differential gene expression in neonatal chondrocytes from WT and A2AR null mice. Read More

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Multimodal treatment including lumbar facet joint denervation for severe low back pain in patients with neuromuscular disorders.

Neurol Sci 2021 May 10. Epub 2021 May 10.

Department of Neurosurgery, Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461, Japan.

Background: Severe low back pain (LBP) is an occasional complaint in patients with neuromuscular disorders (NMDs). Accurate diagnosis and treatment are required to manage LBP; however, the precise pathophysiology differs for each patient. This study aimed to evaluate the efficacy of lumbar facet joint denervation (FJD) and adjunctive modalities in the treatment of LBP in patients with NMD-associated kyphoscoliosis. Read More

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Characteristic Pattern of the Cerebral Hemodynamic Changes in the Acute Stage After Combined Revascularization Surgery for Adult Moyamoya Disease: N-isopropyl-p-[I] iodoamphetamine Single-Photon Emission Computed Tomography Study.

Acta Neurochir Suppl 2021 ;132:57-61

Department of Neurosurgery, Tohoku University, Sendai, Japan.

Objective: Surgical revascularization for moyamoya disease (MMD) prevents cerebral ischemic attack by improving cerebral blood flow (CBF) and could also reduce the risk of re-bleeding in hemorrhagic-onset patients. We sought to clarify the cerebral hemodynamic changes in the acute stage after revascularization surgery for adult MMD.

Materials And Methods: The present study includes 54 consecutive adult patients with MMD (21-76 years old, 43. Read More

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January 2021

Utilizing Alternative Testing Technology for Human Immunodeficiency Virus (HIV) in the COVID era.

Curr Emerg Hosp Med Rep 2021 May 5:1-7. Epub 2021 May 5.

Department of Family Medicine and Public Health Sciences, Wayne State University School of Medicine, Detroit, MI USA.

Purpose Of Review: With the onset of the Coronavirus disease 2019 (COVID-19) pandemic, in-person human immunodeficiency virus (HIV) testing is no longer easily accessible. Therefore, alternative testing technologies must be considered and implemented on a large scale to continue prevention efforts. This review seeks to describe the benefits of utilizing at-home HIV testing technologies, traditionally deemed an alternative form of testing. Read More

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Phenotypic implications of pathogenic variant types in Pompe disease.

J Hum Genet 2021 May 11. Epub 2021 May 11.

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.

Newborn screening and therapies for Pompe disease (glycogen storage disease type II, acid maltase deficiency) will continue to expand in the future. It is thus important to determine whether enzyme activity or type of pathogenic genetic variant in GAA can best predict phenotypic severity, particularly the presence of infantile-onset Pompe disease (IOPD) versus late-onset Pompe disease (LOPD). We performed a retrospective analysis of 23 participants with genetically-confirmed cases of Pompe disease. Read More

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Increased excitatory to inhibitory synaptic ratio in parietal cortex samples from individuals with Alzheimer's disease.

Nat Commun 2021 May 10;12(1):2603. Epub 2021 May 10.

Department of Neurology, Mitchell Center for Neurodegenerative Diseases. School of Medicine, University of Texas Medical Branch at Galveston, Galveston, USA.

Synaptic disturbances in excitatory to inhibitory (E/I) balance in forebrain circuits are thought to contribute to the progression of Alzheimer's disease (AD) and dementia, although direct evidence for such imbalance in humans is lacking. We assessed anatomical and electrophysiological synaptic E/I ratios in post-mortem parietal cortex samples from middle-aged individuals with AD (early-onset) or Down syndrome (DS) by fluorescence deconvolution tomography and microtransplantation of synaptic membranes. Both approaches revealed significantly elevated E/I ratios for AD, but not DS, versus controls. Read More

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Serotonin transporter availability increases in patients recovering from a depressive episode.

Transl Psychiatry 2021 May 10;11(1):264. Epub 2021 May 10.

Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet, & Stockholm Health Care Services, Region Stockholm, Karolinska University Hospital, SE-171 76, Stockholm, Sweden.

Molecular imaging studies have shown low cerebral concentration of serotonin transporter in patients suffering from depression, compared to healthy control subjects. Whether or not this difference also is present before disease onset and after remission (i.e. Read More

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Impact of the inclusion of an aminoglycoside to the initial empirical antibiotic therapy for Gram-negative bloodstream infections in hematological neutropenic patients: a propensity-matched cohort study (AMINOLACTAM study).

Antimicrob Agents Chemother 2021 May 10. Epub 2021 May 10.

Infectious Disease Department, Bellvitge University Hospital, Hospitalet del Llobregat, Barcelona, Spain.

To test the hypothesis that the addition of an aminoglycoside to a ß-lactam antibiotic could provide better outcomes than ß-lactam monotherapy for the initial empirical treatment of hematological neutropenic patients with subsequently documented Gram-negative bacilli (GNB) bloodstream infection (BSI). Multinational, retrospective, cohort study of GNB BSI episodes in hematological neutropenic patients in six centers (2010-2017). Combination therapy (ß-lactam plus aminoglycoside) was compared to ß-lactam monotherapy. Read More

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COVID-19: The experience from Italy.

Clin Dermatol 2021 Jan-Feb;39(1):12-22. Epub 2020 Dec 17.

Dermatology Unit, ASST Lecco, Alessandro Manzoni Hospital, Lecco, Italy.

A wide range of cutaneous signs are attributed to COVID-19 infection. This retrospective study assesses the presence and impact of dermatologic manifestations related to the spread of COVID-19 in Lombardy, the geographic district with the first outbreak in Italy. A cohort of 345 patients with laboratory confirmed COVID-19 was collected from February 1, 2020 to May 31, 2020. Read More

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December 2020