Results 21 to 30 of about 162,965 (256)

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

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

Autism, the Integrations of 'Difference' and the Origins of Modern Human Behaviour [PDF]

, 2009
It is proposed here that the archaeological evidence for the emergence of 'modern behaviour' (160,000-40,000 bp) can best be explained as the rise of cognitive variation within populations through social mechanisms for integrating 'different minds ...
Spikins, Penny
core   +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

Down syndrome-recent progress and future prospects [PDF]

, 2009
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia.
Adams, Adayev, Ahn, Ait Yahya-Graison, Altafaj, Antonarakis, Arron, Aylward, Aylward, Bartel, Belichenko, Bercovich, Best, Bliss, Brault, Canfield, Canzonetta, Carothers, Clark, Contestabile, Costa, de Graaf, De Vita, Denoeud, Dowjat, Draheim, E. M.C. Fisher, Ermak, Ermak, F. K. Wiseman, Fernandez, Freeman, Fuentes, Gerstein, Glasson, Granholm, Granholm, Groet, Guidi, Gwack, Harashima, Hasle, Hassold, Hill, Holland, Holtzman, Holtzman, Hunter, Hunter, Izraeli, Janicki, Johannsen, K. A. Alford, Kiyoi, Klusmann, Kuhn, Lai, Lee, Liang, Loos, Lorenzi, Mart  nez de Lagr  n, Maslen, Meng, Moore, Morice, Morris, Morrison, Murthy, Necchi, Nistor, O'Doherty, O'Donovan, O'Nuallain, Olson, Park, Pearlson, Prandini, Richtsmeier, Ryoo, Sato, Seo, Sethupathy, Stefansson, Sultan, Sussan, Toso, Tybulewicz, V. L.J. Tybulewicz, Wahab, Walters, Wechsler, Wegiel, Weis, Williams, Woods, Yang   +96 more
core   +2 more sources

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

Pain Response after Maximal Aerobic Exercise in Adolescents across Weight Status [PDF]

, 2015
Introduction Pain reports are greater with increasing weight status, and exercise can reduce pain perception. It is unknown, however, whether exercise can relieve pain in adolescents of varying weight status.
Bement, Marie K. Hoeger, Danduran, Michael E., Hunter, Sandra K., Stolzman, Stacy   +3 more
core   +2 more sources