Results 51 to 60 of about 52,510 (220)

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Case Report: Systemic amyloidosis unmasked by progressive hepatomegaly after splenectomy for non-traumatic spleen rupture in a patient with chronic liver disease

Frontiers in Medicine
BackgroundNon-traumatic splenic rupture (NSR) is a rare manifestation of systemic amyloid light-chain amyloidosis (AL amyloidosis), a plasma cell dyscrasia best known for its cardiorenal involvement.
Li-Ping Sheng, Ya-Yun Zhang, Ming Zhang, Bo-Zhi Lin, Rui-Fang Ma, Li-Na Han, Hui Liu, Feng-Qin Hou, Feng-Qin Hou, Gui-Qiang Wang, Gui-Qiang Wang   +10 more
doaj   +1 more source

Lack of Suspicion of Dapsone Hypersensitivity Syndrome in a Leprosy Patient: Case Report with Fatal Outcome

Research and Reports in Tropical Medicine, 2023
Ruth Ansah,1 Ebenezer Ameyaw Arkoh,2 Benedict Okoe Quao,2,3 Mirjam Groger1 1Center of Tropical Medicine, Bernhard Nocht Institute for Tropical Medicine and I.
Ansah R, Arkoh EA, Quao BO, Groger M
doaj  

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Polycystic Liver Disease: Pathophysiology, Diagnosis and Treatment

Hepatic Medicine: Evidence and Research, 2022
Luiz Fernando Norcia,1 Erika Mayumi Watanabe,2 Pedro Tadao Hamamoto Filho,3 Claudia Nishida Hasimoto,1 Leonardo Pelafsky,1 Walmar Kerche de Oliveira,1 Ligia Yukie Sassaki4 1Department of Surgery, São Paulo State University (Unesp), Medical School ...
Norcia LF, Watanabe EM, Hamamoto Filho PT, Hasimoto CN, Pelafsky L, de Oliveira WK, Sassaki LY   +6 more
doaj  

Vivax Malaria Presenting with Fever and Tender Hepatomegaly

, 2017
Malaria caused by vivax is more common than those caused by falciparum. We report here a patient of vivax malaria presented with tender hepatomegaly. A 30 year old male from a rural area was admitted with high grade irregular fever for 5 days with severe
Karzan Dey Sarker, Mohammad Abu Bakar Siddique, Ahmed Manadir Hossain, Binoy Krishna Tarafder, Md Mahabubur Roshed, Mohammad Tanvir Islam   +5 more
core   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Construction and evaluation of a chronic arthritis animal model induced by persistent activation of toll‐like receptors via lipopolysaccharide stimulation

Animal Models and Experimental Medicine, EarlyView.
We constructed a novel systemic juvenile idiopathic arthritis mouse model (LC) by introducing sustained TLR4 activation into the collagen‐induced arthritis model. The LC model effectively recapitulates human sJIA‐like systemic inflammation while revealing a critical dissociation between systemic immune activation and joint damage.
Fengming Li, Qiang Luo, Xinglin Wu, Yuxiao Chen, Xuemei Tang   +4 more
wiley   +1 more source

Long term administration of gentamicin affects hemato-biochemical parameters and liver architecture of Swiss albino mice

Journal of Advanced Biotechnology and Experimental Therapeutics, 2018
Gentamicin is most frequently used aminoglycoside antibiotic. Despite its wide use, the effects of gentamicin have not been clearly studied in relation to alteration hemato-biochemical parameters and liver injury.
Nure Jannat, Tanjina Amin, Nasrin Sultana, Mir Rubayet Jahan, Md Rafiqul Islam   +4 more
doaj   +1 more source