Results 41 to 50 of about 44,730 (271)

Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience

Frontiers in Pediatrics
ObjectiveTo evaluate the effectiveness and safety of enzyme replacement therapy (ERT) with velaglucerase alfa, and offer insights into the clinical course of patients with Gaucher disease (GD) that were diagnosed and treated early in life.Study designA ...
Ozlem Goker-Alpan, Margarita M. Ivanova, Ravi Pathak, Ekaterina Wright   +3 more
doaj   +1 more source

Features of the clinical course and approaches to the therapy of norovirus infection in children

Лечащий Врач, 2021
The frequency, nature and duration of extra-intestinal manifestations depending on the therapy in children with norovirus infection were studied. It was found that in norovirus infection in children, in addition to gastrointestinal symptoms, there are ...
R. V. Popova, T. A. Ruzhentsova
doaj  

Hepatomegaly Associated with Non-Obstructive Sinusoidal Dilation in Experimental Visceral Leishmaniasis

Pathogens, 2021
Visceral leishmaniasis (VL) is the most severe form of leishmaniasis caused by protozoan parasites of the genus Leishmania. Hepatomegaly is one of the most frequent clinical manifestations of VL, whereas immunopathology of the symptom has not been well ...
Kota Maeda, Sonya Sadoughi, Ayako Morimoto, Kazuyuki Uchida, James K. Chambers, Chizu Sanjoba, Junya Yamagishi, Yasuyuki Goto   +7 more
doaj   +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

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 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  

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

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  

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

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source