Results 51 to 60 of about 9,594 (241)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
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 +17 more
wiley +1 more source
Sporadic CJD in association with HIV [PDF]
Journal of Neurology, 2018 Creutzfeldt-Jakob disease (CJD) is a rapidly progressive fatal neurodegenerative disorder. We report an unusual case of pathologically confirmed sporadic CJD developing in a HIV-positive patient but presenting with clinical and radiological features suggestive of variant CJD.A 63-year-old man with chronic stable HIV developed progressive difficulties ...
Nikolien S, van de Ven +4 more
openaire +2 more sources
A systemic analysis of Creutzfeldt Jakob disease cases in Asia
PrionCreutzfeldt Jakob Disease (CJD) is a rapidly progressive, fatal neurodegenerative disorder, also known as a subacute spongiform encephalopathy. There are three major subtypes of CJD i.e. Sporadic CJD, which occurs for reasons unbeknown to science (85% of
Urwah Rasheed +4 more
doaj +1 more source
Emerging Infectious Diseases, 2018 A patient with a heterozygous variant of Creutzfeldt-Jakob disease (CJD) with a methionine/valine genotype at codon 129 of the prion protein gene was recently reported.
Daisy Bougard +8 more
doaj +1 more source
Creutzfeldt-Jakob Disease Incidence, South Korea, 2001–2019
Emerging Infectious Diseases, 2022 We found increasing trends of Creutzfeldt-Jakob disease (CJD) cases and annual incidence in South Korea during 2001–2019. We noted relatively low (5.7%) distribution of familial CJD.
Yong-Chan Kim, Byung-Hoon Jeong
doaj +1 more source
Exploring the Application of Waxes and Their Mixtures Oleogels in Ice Cream
Journal of the American Oil Chemists' Society, EarlyView.ABSTRACT The objective of this work was to produce ice cream using waxes oleogels, aiming to improve its nutritional value while maintaining its physical‐chemistry characteristics. Five ice cream formulations were manufactured using (1) milk fat, (2) canola oil, and (3–5) canola oil‐oleogels. The oleogels were produced with beeswax (BEW), carnauba wax (
Ana Paula Lima Ribeiro +6 more
wiley +1 more source
A review of the enhanced CJD surveillance feasibility study in the elderly in Scotland, UK
BMC GeriatricsBackground Variant Creutzfeldt - Jakob disease (vCJD) arose from dietary contamination with bovine-spongiform-encephalopathy (BSE). Because of concerns that vCJD-cases might be missed in the elderly, a feasibility study of enhanced CJD surveillance on ...
Lovney Kanguru +6 more
doaj +1 more source
Metabolomic investigation of cisplatin‐induced acute kidney injury in paediatric cancer patients
British Journal of Clinical Pharmacology, EarlyView.Aim Cisplatin causes acute kidney injury (AKI) in approximately 46% of paediatric cancer patients who receive it. Serum creatinine (SCr) is a poor biomarker of cisplatin nephrotoxicity, because there is a delay between cisplatin infusion and SCr elevation.
Yong Jin Lim +37 more
wiley +1 more source
Creutzfeldt-Jakob disease and sleep disorders
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease caused by prion protein infection. Compared with other neurodegenerative diseases, neuronal cell apoptosis in CJD occurs more rapidly.
Jian-nan ZHU +5 more
doaj +1 more source