Results 101 to 110 of about 229,156 (260)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

JC virus-associated central nervous system diseases in HIV-infected patients in Brazil: clinical presentations, associated factors with mortality and outcome

Brazilian Journal of Infectious Diseases
INTRODUCTION: Several presentations of neurologic complications caused by JC virus (JCV) in human immunodeficiency virus (HIV)-infected patients have been described and need to be distinguished from the "classic" form of progressive multifocal ...
Felipe Piza, Maria Cristina Fink, Gilberto S. Nogueira, Claudio S. Pannuti, Augusto C. Penalva de Oliveira, José Ernesto Vidal   +5 more
doaj   +1 more source

Primary Diffuse Large B Cell Lymphoma of Bone: A Single-Center Experience

Journal of Blood Medicine, 2022
Mahmoud H Ayesh Haj Yousef,1 Ziad Audat,2 Duha M Al-Shorafat,3 Sohaib Al-Khatib,4 Ammar K Daoud1 1Department of Internal Medicine, Faculty of Medicine, King Abdullah University Hospital, Jordan University of Science and Technology, Irbid, Jordan ...
Ayesh Haj Yousef MH, Audat Z, Al-Shorafat DM, Al-Khatib S, Daoud AK   +4 more
doaj  

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Chest X-ray (First Tool of Imaging) in COVID-19 Patients Radiological and Clinical Correlation - A Tertiary Care Experience at Jinnah Postgraduate Medical Centre, Karachi

Pakistan Journal of Medical Research, 2021
Background: COVID-19 infection is the name given to respiratory illness caused by novel coronavirus (nCov) which is a new strain emerged in China in December 2019 that has not been previously identified in humans.
Urooj Kanwal Alam, Shazia Kadri, Naveed Ahmed, Mukhtiar A Memon, Tariq Mehmood   +4 more
doaj  

Comparative virology and pathology of Monkeypox virus in Syrian hamsters, C57BL/6, and BALB/c mice: A framework for preclinical model selection

Animal Models and Experimental Medicine, EarlyView.
This study compared monkeypox virus (MPXV) infection in three small animal models: Syrian hamsters, C57BL/6 mice, and BALB/c mice. Following intraperitoneal inoculation, Syrian hamsters exhibited the highest susceptibility, with rapid systemic viral dissemination, elevated splenic and renal viral burdens, and severe histopathological damage, followed ...
Xiaohui Wei, Jing Wu, Hekai Yang, Na Li, Binbin Zhao, Wanjun Peng, Na Rong, Wei Zhang, Jing Xue, Jiangning Liu   +9 more
wiley   +1 more source

Coral Disease and Health Workshop: Coral Histopathology II [PDF]

, 2007
The health and continued existence of coral reef ecosystems are threatened by an increasing array of environmental and anthropogenic impacts. Coral disease is one of the prominent causes of increased mortality among reefs globally, particularly in the ...
Bochsler, V. S., Galloway, S. B., Harley, R. A., Kramarsky-Winters, E., McLaughlin, S. M., Meteyer, C. U., Morado, J. F., Nicholson, J., Parnell, P. G., Peters, E. C., Reynolds, T. L., Rotstein, D. S., Sileo, L., Woodley, C. M., Work, T. M.   +14 more
core  

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

Animal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu, Yafei Yang, Chunxi Liu, Danting Wen, Tingyu Zhao, Ping Xie, Jing Xiao   +6 more
wiley   +1 more source

A rare case of non-contiguous multifocal spinal tuberculosis

The Pan African Medical Journal, 2017
Spinal tuberculosis is defined as an Infection of the intervertebral disc and the adjacent vertebral bodies, caused by Mycobacterium Tuberculosis (MT). It represents 40% of all osteo-articular spondylitis.
Hilal Abboud, Ahmed Elhankari
doaj   +1 more source