Results 11 to 20 of about 1,383,473 (237)

Simultaneous Opposition Tendon Transfer with Median Nerve Decompression for Severe Bilateral Carpal Tunnel Syndrome in Adolescents with Hunter Syndrome: A Case Report

Plastic and Reconstructive Surgery, Global Open, 2020
Summary. Although carpal tunnel syndrome (CTS) is exceedingly rare in children, its prevalence in those with Hunter syndrome, mucopolysaccharidosis type II, is high.
Takuya Uemura, MD, PhD, Mitsuhiro Okada, MD, PhD, Hidetomi Terai, MD, PhD, Takuya Yokoi, MD, PhD, Ema Onode, MD, PhD, Kosuke Shintani, MD, PhD, Sadahiko Konishi, MD, PhD, Hiroaki Nakamura, MD, PhD   +7 more
doaj   +1 more source

Neuroradiological Characteristics in Patients with Mucopolysaccharidosis Type II: A Systematic Review [PDF]

Journal of Medical Academics, 2023
Introduction: Mucopolysaccharidosis (MPS) is an inherited metabolic disorder that is part of the lysosomal disorders; the main characteristic is the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans except for type II ...
Yancarlos Ramos-Villegas, Loraine Quintana-Pájaro, Christian Meza-Valle, Mario Contreras-Arrieta, Huber Padilla-Zambrano, Tariq Janjua, Willem G Calderon-Miranda, Yelson A Picon-Jaimes, Julio Castillo-Blandino, Luis R Moscote-Salazar, Natalia Guevara-Moriones   +10 more
doaj   +1 more source

A RARE CASE OF HUNTER SYNDROME – CASE REPORT [PDF]

Romanian Journal of Pediatrics, 2015
Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a defi ciency in the activity of a specifi c lysosomal enzyme required for the degradation of ...
Lorena Elena Melit, Oana Marginean, Carmen Duicu, Cristina Campean, Maria Oana Marginean   +4 more
doaj   +1 more source

Mental health perspectives of Hunter syndrome: Case reports of two biological siblings

Medical Journal of Dr. D.Y. Patil University, 2016
Hunter syndrome is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of a substance called glycosaminoglycans in nearly all cell types, tissues, and organs.
Kabir Garg, Sujita Kumar Kar
doaj   +1 more source

In silico profiling of non-synonymous SNPs in IDS gene for early diagnosis of Hunter syndrome

Egyptian Journal of Medical Human Genetics, 2022
Background Single amino acid substitutions in the Iduronate-2-sulfatase enzyme result in destabilization of the protein and cause a genetic disorder called Hunter syndrome.
Adarshan Sivakumar, Yuvaraj Dinakarkumar, Wahidah H. Al-Qahtani, Muthusamy Karnan, Jothiramalingam Rajabathar, Arokiyaraj Charumathi, Elakiya Sadhaasivam, Aparna Preetha Venugopal, Baljeet Mukhtiar Singh, Maqbool Qutub, Sai Ramesh Anjaneyulu   +10 more
doaj   +1 more source

A case of hunter syndrome and Alder-Reilly anomaly

Journal of Applied Hematology, 2017
A 2-year-old boy presented with delayed speech, hydrocephalus, skeletal deformities, and right-sided hydrocele. On investigation, the peripheral smear revealed Alder–Reilly anomaly in the neutrophils suggesting mucopolysaccharidosis (MPS).
Nour AlMozain, Nasir A Bakshi
doaj   +1 more source

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

Frontiers in Molecular Biosciences, 2021
Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme.
Alice Brinckmann Oliveira Netto, Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Ana Carolina Brusius-Facchin, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Francyne Kubaski, Francyne Kubaski, Francyne Kubaski, Francyne Kubaski, Juliana Josahkian, Juliana Josahkian, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani, Roberto Giugliani   +15 more
doaj   +1 more source

Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review

Вопросы современной педиатрии, 2021
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys.
Nato D. Vashakmadze, Natalya V. Zhurkova, Olga B. Gordeeva, Elena V. Komarova, Tatyana E. Privalova, Anastasya I. Rykunova, Marina А. Babaykina   +6 more
doaj   +1 more source

Clinical Case of Drug Allergy to Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II

Педиатрическая фармакология, 2022
Background. Enzyme replacement therapy (ERT) with iduronate-2-sulfatase recombinant forms (idursulfase and idursulfase beta) is effective for the management of mucopolysaccharidosis type II (MPS II).
Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Mariya S. Karaseva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina, Artur V. Zaz’yan   +9 more
doaj   +1 more source

Serotonin syndrome: a clinical review of current controversies [PDF]

Journal of Integrative Neuroscience, 2020
Serotonin syndrome is a state of increased central and peripheral serotonin (5-hydroxytryptamine) activity. Unless recognized and treated early, serotonin syndrome can lead to seizures, shock and death.
Ursula Werneke, Petra Truedson-Martiniussen, Henrik Wikström, Michael Ott   +3 more
doaj   +1 more source