Results 31 to 40 of about 173 (139)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Human hantavirus infections: epidemiology, clinical features, pathogenesis and immunology

Swiss Medical Weekly, 2014
In humans, hantaviruses can cause haemorrhagic fever with renal syndrome (HFRS) or hantavirus cardiopulmonary syndrome (HCPS). Currently it is estimated that 150,000 to 200,000 cases of hantavirus disease occur each year, the majority being reported
Tobias Manigold, Pablo Vial
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Intestinal protein loss in patients with haemorrhagic fever with renal syndrome [PDF]

Nephrology Dialysis Transplantation, 2000
In haemorrhagic fever with renal syndrome (HFRS) vascular dysfunction has been observed in various organs, but the involvement of the intestine has not yet been reported. This study was performed to evaluate the association of intestinal protein loss in this disease with other clinical parameters reflecting vascular permeability or disease severity ...
Y O, Kim, C W, Yang, S A, Yoon, H C, Song, Y S, Kim, S Y, Kim, E J, Choi, Y S, Chang, B K, Bang   +8 more
openaire   +2 more sources

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Evaluating the (comparative) safety profile of the novel oral polio vaccine type 2 using individual case safety reports in VigiBase

British Journal of Clinical Pharmacology, EarlyView.
Aim Novel oral polio vaccine type 2 (nOPV2) was used under the WHO emergency use listing for circulating vaccine‐derived polio virus (cVDPV) outbreaks from 2021 to 2023. We assessed nOPV2 adverse events following immunization (AEFIs) and compared its safety profile to other vaccines using VigiBase.
Comfort Kunak Ogar, Malede Mequanent Sisay, Leonardo Roque‐Pereira, Christine Leopold, Patrick C. Souverein, Aukje K. Mantel‐Teeuwisse, Marie L. De Bruin   +6 more
wiley   +1 more source

Acute Renal Failure in Dengue Infection [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: Acute Renal Failure (RF) is a rare but well recognized complication of Dengue Infection (DI). There has been paucity of published data regarding renal involvement in DI.
Girish Pamappa Vakrani, Nambakam Tanuja Subramanyam   +1 more
doaj   +1 more source

Hormonal Defects Are Common during Puumala Hantavirus Infection and Associate with Disease Severity and Biomarkers of Altered Haemostasis

Viruses, 2021
Central and peripheral hormone deficiencies have been documented during and after acute hantavirus infection. Thrombocytopenia and coagulation abnormalities are common findings in haemorrhagic fever with renal syndrome (HFRS).
Marlene Tarvainen, Satu Mäkelä, Outi Laine, Ilkka Pörsti, Sari Risku, Onni Niemelä, Jukka Mustonen, Pia Jaatinen   +7 more
doaj   +1 more source

Cheek tooth extraction in geriatric versus non‐geriatric horses

Equine Veterinary Journal, EarlyView.
Abstract Background Age‐related dental changes are major contributors to dental disorders in older horses, and cheek tooth extractions are often required to maintain masticatory function and oral comfort. However, limited information is available on clinical and treatment characteristics in this older patient population.
Elias Mair, Omid Nekouei, Patricia Trummer‐Schug, Rhea Haralambus, Nora Mareike Biermann   +4 more
wiley   +1 more source

IL-33/ST2 correlates with severity of haemorrhagic fever with renal syndrome and regulates the inflammatory response in Hantaan virus-infected endothelial cells. [PDF]

PLoS Neglected Tropical Diseases, 2015
Hantaan virus (HTNV) causes a severe lethal haemorrhagic fever with renal syndrome (HFRS) in humans. Despite a limited understanding of the pathogenesis of HFRS, the importance of the abundant production of pro-inflammatory cytokines has been widely ...
Yusi Zhang, Chunmei Zhang, Ran Zhuang, Ying Ma, Yun Zhang, Jing Yi, Angang Yang, Boquan Jin   +7 more
doaj   +1 more source