Results 31 to 40 of about 49,728 (243)

A Rare and Intriguing Case of Wilson's Disease Initially Suspected of Systemic Lupus Erythematosus

Clinical Case Reports
When systematic lupus erythematosus‐like lab results (e.g., positive anti‐double‐stranded DNA antibody, low complement component 3) are inconsistent with physical findings, such as the absence of arthritis or nephritis, clinicians should consider ...
Mandana Khodashahi, Najmeh Mohajeri, Moeid Reza Alipour, Reza Khademi, Nama Mohamadian Roshan, Behzad Aminzadeh, Muhammed Joghatayi   +6 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic

Journal of Contemporary Medicine, 2020
Objective: Gaucher’s disease (GD) is a disease caused by glucocerebrosidase enzyme deficiency and characterized by glucoceramide accumulation in the reticuloendothelial system.
Didar Yanardağ Açık, Bilal Aygun
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Ultrasound assessment of hepatomegaly and metabolically-associated fatty liver disease among a sample of children: a pilot project

Frontiers in Pediatrics
IntroductionObesity in children is a global health crisis, with 46% of children in Puerto Rico classified as overweight or obese based on Body Mass Index.
Bárbara L. Riestra-Candelaria, Wilma Rodríguez-Mojica, Camille Vélez-Morell, Claudia Ramírez-Marcano, Ariana Alvarado-Castillo, Gabriel Camareno-Soto, Loida A. González-Rodríguez   +6 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Nosological aspects of hepatomegaly and splenomegaly at pediatric age

, 2016
Aim of investigation. To estimate frequency of hepatomegaly and splenomegaly in pediatric patients, to determine their causes and nosological pattern of hepatolienal syndrome (HLS) in relation to age. Material and methods.
F. K. Manerov, M. M. Kotovich, E. V. Luchsheva   +2 more
core   +1 more source

Mauriac syndrome: a rare complication in patients with type 1 diabetes mellitus

Endocrinology, Diabetes & Metabolism Case Reports
Mauriac syndrome is a rare complication in patients with type 1 diabetes. It presents with poor glycemic control and hepatomegaly due to extensive liver glycogen deposition.
João Oliveira Torres, Diana Cruz Martins, Alexandra Abegão Matias, Nuno Gião, Eduardo Dutra, Rui Malheiro, Milena Mendes, José Silva-Nunes   +7 more
doaj   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Repeated and preemptive palliative radiotherapy of symptomatic hepatomegaly in a patient with advanced myelofibrosis [PDF]

, 2008
BACKGROUND: Patients with advanced myelofibrosis often suffer from symptomatic extramedullary hematopoiesis in spleen and/or liver. In case of drug-refractory disease splenomegaly is treated surgically, whereas hepatomegaly is palliated by radiotherapy ...
Gmür, J, Riesterer, O, Lütolf, U
core   +1 more source