Results 61 to 70 of about 67,248 (260)

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

Allopurinol-induced hepatomegaly [PDF]

BMJ Case Reports, 2012
Allopurinol has long been recognised as a cause of hepatotoxicity; however, severe side effects remain rare. We report a case of allopurinol-induced hepatomegaly causing abdominal symptoms in an elderly woman after long-term allopurinol use.
Lucy, Childs, Claire, Dow
openaire   +2 more sources

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Hepatomegaly as the first symptom of malignant solid tumors in children

Journal of Education, Health and Sport, 2018
Introduction: Hepatomegaly is a physical symptom that may suggest primary liver disease, or it may be present as a component of the generalized disorder.
Karolina Widłak, Marta Prządka, Tomasz Chromiec, Marcin Kulczyński, Joanna Nurzyńska-Flak   +4 more
doaj  

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  

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

Umbilical Venous Extravasation in the Liver Mimicking a Hepatic Tumor in a Neonate

Indian Pediatrics Case Reports
Background: Umbilical venous catheter (UVC) malposition is a frequent complication in neonatal intensive care, potentially leading to life-threatening outcomes.
Nandhini Mudiyarasan, Ranjitha Rajendran, Manish Kumar, Muhamed Shabeer   +3 more
doaj   +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  

Kawasaki Disease with Hepatobiliary Manifestations

Medicina, 2022
Background and Objectives: Kawasaki Disease (KD) incidence has been on the rise globally throughout the years, particularly in the Asia Pacific region. KD can be diagnosed based on several clinical criteria. Due to its systemic inflammatory nature, multi-
Siti Aisyah Suhaini, Abdullah Harith Azidin, Chooi San Cheah, Wendy Lee Wei Li, Mohammad Shukri Khoo, Noor Akmal Shareela Ismail, Adli Ali   +6 more
doaj   +1 more source

Berardinelli-Seip Syndrome [PDF]

, 2011
We have reported two cases of Berardinelli-syndrome in a family which is a rare autosomal recessive disorder of the adipose tissue, originally described by Berardinelli and Seip, has been reported in approximately 120 patients of various ethnic origins ...
Dal, Sameer I, Patel, Hitesh
core   +1 more source