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JIMD Reports

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https://www.readbyqxmd.com/read/29995202/the-second-case-of-saposin-a-deficiency-and-altered-autophagy
#1
Melis Kose, Secil Akyildiz Demir, Gulcin Akinci, Cenk Eraslan, Unsal Yilmaz, Serdar Ceylaner, Eser Sozmen Yildirim, Volkan Seyrantepe
Krabbe disease is a lysosomal storage disease caused by galactosylceramidase deficiency, resulting in neurodegeneration with a rapid clinical downhill course within the first months of life in the classic infantile form. This process may be triggered by the accumulation of galactosylceramide (GalCer) in nervous tissues. Both the enzyme galactosylceramidase and its in vivo activator molecule, saposin A, are essential during GalCer degradation. A clinical manifestation almost identical to Krabbe disease is observed when, instead of the galactosylceramidase protein, the saposin A molecule is defective...
July 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29995201/burden-of-illness-in-acid-sphingomyelinase-deficiency-a-retrospective-chart-review-of-100-patients
#2
Gerald F Cox, Lorne A Clarke, Roberto Giugliani, Margaret M McGovern
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease caused by the deficiency of the enzyme acid sphingomyelinase (ASM) resulting in accumulation of sphingomyelin in target tissues. Little is known regarding predictors of disease-related morbidity, healthcare use, and lifestyle impact in adults with chronic disease. A multinational retrospective study collected data on the burden of illness and healthcare resource use for 100 patients across the clinical spectrum of ASMD, including those with rapidly progressive infantile neurovisceral disease (n = 13) and those with the more slowly progressive chronic neurovisceral (n = 6) and chronic visceral (n = 81) disease...
July 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29980992/psychosocial-functioning-in-parents-of-mps-iii-patients
#3
Thirsa Conijn, Stephanie C M Nijmeijer, Hedy A van Oers, Frits A Wijburg, Lotte Haverman
BACKGROUND: Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a lysosomal storage disease resulting in progressive neurocognitive decline during childhood and early demise. Its diagnosis may have a great impact on parents, potentially leading to psychosocial problems such as anxiety, depression, parental distress, and posttraumatic stress. METHODS: Twenty-six mothers and 19 fathers of 34 Dutch MPS III patients completed the "Hospital Anxiety and Depression Scale" (HADS), the "Distress Thermometer for Parents" (DT-P), and the "Self-Rating Scale for Posttraumatic Stress Disorders" (SRS-PTSD)...
July 7, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29926352/stability-of-the-abcd1-protein-with-a-missense-mutation-a-novel-approach-to-finding-therapeutic-compounds-for-x-linked-adrenoleukodystrophy
#4
Masashi Morita, Shun Matsumoto, Airi Sato, Kengo Inoue, Dzmitry G Kostsin, Kozue Yamazaki, Kosuke Kawaguchi, Nobuyuki Shimozawa, Stephan Kemp, Ronald J Wanders, Hirotatsu Kojima, Takayoshi Okabe, Tsuneo Imanaka
Mutations in the ABCD1 gene that encodes peroxisomal ABCD1 protein cause X-linked adrenoleukodystrophy (X-ALD), a rare neurodegenerative disorder. More than 70% of the patient fibroblasts with this missense mutation display either a lack or reduction of the ABCD1 protein because of posttranslational degradation. In this study, we analyzed the stability of the missense mutant ABCD1 proteins (p.A616T, p.R617H, and p.R660W) in X-ALD fibroblasts and found that the mutant ABCD1 protein p.A616T has the capacity to recover its function by incubating at low temperature...
June 21, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29923093/a-homozygous-splice-site-mutation-in-slc25a42-encoding-the-mitochondrial-transporter-of-coenzyme-a-causes-metabolic-crises-and-epileptic-encephalopathy
#5
Arcangela Iuso, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarzmayr, Elisabeth Graf, Caterina Terrile, Holger Prokisch, Tim M Strom, Georg F Hoffmann, Thomas Meitinger, Tobias B Haack
SLC25A42 is an inner mitochondrial membrane protein which has been shown to transport coenzyme A through a lipid bilayer in vitro. A homozygous missense variant in this gene has been recently reported in 13 subjects of Arab descent presenting with mitochondriopathy with variable clinical manifestations. By exome sequencing, we identified two additional individuals carrying rare variants in this gene. One subject was found to carry the previously reported missense variant in homozygous state, while the second subject carried a homozygous canonical splice site variant resulting in a splice defect...
June 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29923092/short-term-administration-of-mycophenolate-is-well-tolerated-in-cln3-disease-juvenile-neuronal-ceroid-lipofuscinosis
#6
Erika F Augustine, Christopher A Beck, Heather R Adams, Sara Defendorf, Amy Vierhile, Derek Timm, Jill M Weimer, Jonathan W Mink, Frederick J Marshall
Mycophenolate, an immunosuppressant, is commonly used off-label for autoimmune neurological conditions. In CLN3 disease, a neurodegenerative disorder of childhood, preclinical and clinical data suggest secondary autoimmunity and inflammation throughout the central nervous system are key components of pathogenesis. We tested the short-term tolerability of mycophenolate in individuals with CLN3 disease, in preparation for possible long-term efficacy trials of this drug. We conducted a randomized, double-blind, placebo-controlled, crossover study of mycophenolate in 19 ambulatory individuals with CLN3 disease to determine the safety and tolerability of short-term administration (NCT01399047)...
June 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29923091/rft1-cdg-absence-of-epilepsy-and-deafness-in-two-patients-with-novel-pathogenic-variants
#7
D Quelhas, J Jaeken, A Fortuna, L Azevedo, A Bandeira, G Matthijs, E Martins
This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G >gt; A (p.G276D), c.73C >gt; T (p...
June 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29923090/evaluation-of-disease-lesions-in-the-developing-canine-mps-iiia-brain
#8
Leanne K Winner, Neil R Marshall, Robert D Jolly, Paul J Trim, Stephen K Duplock, Marten F Snel, Kim M Hemsley
Mucopolysaccharidosis IIIA (MPS IIIA) is an inherited neurodegenerative disease of childhood that results in early death. Post-mortem studies have been carried out on human MPS IIIA brain, but little is known about early disease development. Here, we utilised the Huntaway dog model of MPS IIIA to evaluate disease lesion development from 2 to 24 weeks of age. A significant elevation in primarily stored heparan sulphate was observed in all brain regions assessed in MPS IIIA pups ≤9.5 weeks of age. There was a significant elevation in secondarily stored ganglioside (GM3 36:1) in ≤9...
June 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29923089/extrapolation-of-variant-phase-in-mitochondrial-short-chain-enoyl-coa-hydratase-echs1-deficiency
#9
Colleen M Carlston, Sacha Ferdinandusse, Judith A Hobert, Rong Mao, Nicola Longo
Loss-of-function and hypomorphic ECHS1 variants are associated with mitochondrial short-chain enoyl-CoA hydratase deficiency, an inborn error of valine metabolism. We report an 8-year-old boy with developmental delay, ataxia, hemiplegia, and hearing loss with abnormalities in the basal ganglia. Biochemical studies were essentially normal except for a persistent mildly elevated CSF alanine. This patient demonstrates an intermediate phenotype between a Leigh-like, early-onset presentation and paroxysmal exercise-induced dyskinesia...
June 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29923088/sialuria-ninth-patient-described-has-a-novel-mutation-in-gne
#10
Noelia Nunez Martinez, Michelle Lipke, Jacqueline Robinson, Bridget Wilcken
Sialuria is a rare autosomal dominant inborn error of metabolism characterized by cytoplasmic accumulation and urinary excretion of gram quantities of free sialic acid due to failure of feedback inhibition of the rate-limiting enzyme in the sialic acid synthesis pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK). To date, eight cases had been published worldwide, all with heterozygous missense variants at the allosteric site, specifically at Arginine 294 (formerly 263) and Arginine 297 (formerly 266) of GNE...
June 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29923087/apparent-acetaminophen-toxicity-in-a-patient-with-transaldolase-deficiency
#11
Jasmine Lee-Barber, Taylor E English, Jacquelyn F Britton, Nara Sobreira, Jason Goldstein, David Valle, Hans Tomas Bjornsson
Transaldolase deficiency (MIM#: 606003) is a rare autosomal recessive defect in the pentose phosphate pathway. Affected individuals are at risk for progressive liver failure and hepatocarcinoma. In the transaldolase-deficient mouse model (Taldo1 -/- ), these hepatic complications are accentuated by oxidative stress related to acetaminophen administration. We report a 13-month-old transaldolase-deficient male who developed mild liver failure after receiving standard doses of acetaminophen during a febrile respiratory syncytial virus infection...
June 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29754208/serum-amino-acid-profiling-in-patients-with-alkaptonuria-before-and-after-treatment-with-nitisinone
#12
A S Davison, B P Norman, E A Smith, J Devine, J Usher, A T Hughes, M Khedr, A M Milan, J A Gallagher, L R Ranganath
BACKGROUND: Alkaptonuria (AKU) is a rare inherited disorder of the tyrosine metabolic pathway. Our group is evaluating the use of the homogentisic acid-lowering agent nitisinone in patients with AKU. A major biochemical consequence of this treatment is hypertyrosinaemia. Herein we report the concentration of 20 serum amino acids over a 36-month period pre- and post-treatment with nitisinone. METHODS: Fasting serum samples were collected at baseline (pre-nitisinone), 3 (2 mg nitisinone every other day), 6, 12, 24 and 36 (2 mg nitisinone daily) months...
May 13, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29752652/disruption-of-the-responsible-gene-in-a-phosphoglucomutase-1-deficiency-patient-by-homozygous-chromosomal-inversion
#13
Katsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, Hidehito Inagaki, Yoshinao Wada, Tokiko Fukuda, Hideo Sugie, Isao Yuasa, Tetsuya Ito, Hiroki Kurahashi
Phosphoglucomutase 1 (PGM1) deficiency is a recently defined disease characterized by glycogenosis and a congenital glycosylation disorder caused by recessive mutations in the PGM1 gene. We report a case of a 12-year-old boy with first-cousin parents who was diagnosed with a PGM1 deficiency due to significantly decreased PGM1 activity in his muscle. However, Sanger sequencing revealed no pathogenic mutation in the PGM1 gene in this patient. As this case presented with a cleft palate in addition to hypoglycemia and elevated transaminases and creatine kinase, karyotyping was performed and identified homozygous inv(1)(p31...
May 12, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29721912/a-middle-eastern-founder-mutation-expands-the-genotypic-and-phenotypic-spectrum-of-mitochondrial-micu1-deficiency-a-report-of-13-patients
#14
Sara Musa, Wafaa Eyaid, Kimberli Kamer, Rehab Ali, Mariam Al-Mureikhi, Noora Shahbeck, Fatma Al Mesaifri, Nawal Makhseed, Zakkiriah Mohamed, Wafaa Ali AlShehhi, Vamsi K Mootha, Jane Juusola, Tawfeg Ben-Omran
MICU1 encodes a Ca2+ sensing, regulatory subunit of the mitochondrial uniporter, a selective calcium channel within the organelle's inner membrane. Ca2+ entry into mitochondria helps to buffer cytosolic Ca2+ transients and also activates ATP production within the organelle. Mutations in MICU1 have previously been reported in 17 children from nine families with muscle weakness, fatigue, normal lactate, and persistently elevated creatine kinase, as well as variable features that include progressive extrapyramidal signs, learning disabilities, nystagmus, and cataracts...
May 3, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29705972/p-tau-and-subunit-c-mitochondrial-atp-synthase-accumulation-in-the-central-nervous-system-of-a-woman-with-hurler-scheie-syndrome-treated-with-enzyme-replacement-therapy-for-12-years
#15
Hiroshi Kobayashi, Masamichi Ariga, Yohei Sato, Masako Fujiwara, Nei Fukasawa, Takahiro Fukuda, Hiroyuki Takahashi, Masahiro Ikegami, Motomichi Kosuga, Torayuki Okuyama, Yoshikatsu Eto, Hiroyuki Ida
We report an autopsy case of a woman with mucopolysaccharidosis type I (MPS I) Hurler-Scheie syndrome who was treated with enzyme replacement therapy (ERT) for 12 years. This was the first case of MPS I treated with ERT in Japan. Pathological analysis showed no glycosaminoglycan accumulation in the liver and spleen as a result of long-term ERT, although severe aortic stenosis, diffuse intimal hyperplasia of the coronary artery, and fibrous hypertrophy of the endocardium were observed. Additionally, we detected subunit c mitochondrial ATP synthase (SCMAS) accumulation and mild tauopathy (hyperphosphorylated tau or p-tau, both 3-repeat and 4-repeat tau accumulation) in the same area of the cerebral limbic system and central gray matter of the mid brain and pons...
April 29, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29675588/parenting-a-child-with-phenylketonuria-an-investigation-into-the-factors-that-contribute-to-parental-distress
#16
Olivia Ambler, Emma Medford, Dougal J Hare
Phenylketonuria (PKU) is an inherited metabolic condition that can lead to the onset of intellectual disabilities if not strictly managed through a low-protein diet. Parents are responsible for supervising their child's treatment for PKU, which may impact on their experience of distress. This cross-sectional study aimed to identify the factors that contribute to distress in parents who care for a child with PKU, distinct from parents in the general population. Thirty-eight parents of children and adolescents with PKU and 32 parents in the general population completed the questionnaires measuring parental psychological resilience, child behaviour problems, perceived social support and distress...
April 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29671225/effectiveness-of-early-hematopoietic-stem-cell-transplantation-in-preventing-neurocognitive-decline-in-mucopolysaccharidosis-type-ii-a-case-series
#17
A Selvanathan, C Ellaway, C Wilson, P Owens, P J Shaw, K Bhattacharya
The early progressive form of the X-linked disorder, Hunter syndrome or mucopolysaccharidosis type II (MPS II) (OMIM #309900), is characterized by cognitive decline, and pulmonary and cardiac complications that often cause death before 20 years of age. Deficiency of the lysosomal enzyme, iduronate-2-sulfatase (EC 3.1.6.13) results in deposition of the glycosaminoglycans, dermatan, and heparan sulfate in various tissues. In recent years, enzyme replacement therapy (ERT) has become the mainstay of treatment, but is expensive and ineffective in arresting cognitive decline...
April 19, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29654549/severe-leukoencephalopathy-with-clinical-recovery-caused-by-recessive-bola3-mutations
#18
C A Stutterd, N J Lake, H Peters, P J Lockhart, R J Taft, M S van der Knaap, A Vanderver, D R Thorburn, C Simons, R J Leventer
AIM: To identify the genetic aetiology of a distinct leukoencephalopathy causing acute neurological regression in infancy with apparently complete clinical recovery. METHODS: We performed trio whole genome sequencing (WGS) to determine the genetic basis of the disorder. Mitochondrial function analysis in cultured patient fibroblasts was undertaken to confirm the pathogenicity of candidate variants. RESULTS: The patient presented at 18 months with acute hemiplegia and cognitive regression without obvious trigger...
April 14, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29654548/reduced-muscle-strength-in-barth-syndrome-may-be-improved-by-resistance-exercise-training-a-pilot-study
#19
Adam J Bittel, Kathryn L Bohnert, Dominic N Reeds, Linda R Peterson, Lisa de Las Fuentes, Manuela Corti, Carolyn L Taylor, Barry J Byrne, W Todd Cade
BACKGROUND: Cardioskeletal myopathy is thought to contribute to exercise intolerance, and reduced quality of life (QOL) in Barth syndrome (BTHS). The objectives of this study were to examine: (1) skeletal muscle strength/performance in adolescents and young adults with BTHS and (2) the safety, feasibility, and initial efficacy of 12 weeks of progressive resistance exercise training (RET) on muscle strength, mass, and performance, bone mineral density, exercise tolerance, cardiac function, and QOL in individuals with BTHS...
April 14, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29654547/serum-amino-acid-profiling-in-citrin-deficient-children-exhibiting-normal-liver-function-during-the-apparently-healthy-period
#20
Teruo Miyazaki, Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Ichiro Morioka, Hirokazu Tsukahara, Shunsaku Kaji, Satoshi Hirayama, Takashi Miida, Hiroki Kondou, Kenji Ihara, Mariko Yagi, Zenro Kizaki, Kazuhiko Bessho, Takahiro Kodama, Kazumoto Iijima, Tohru Yorifuji, Yasushi Matsuzaki, Akira Honda
BACKGROUND: Citrin (mitochondrial aspartate-glutamate transporter) deficiency causes the failures in both carbohydrate-energy metabolism and the urea cycle, and the alterations in the serum levels of several amino acids in the stages of newborn (NICCD) and adult (CTLN2). However, the clinical manifestations are resolved between the NICCD and CTLN2, but the reasons are still unclear. This study evaluated the serum amino acid profile in citrin-deficient children during the healthy stage...
April 14, 2018: JIMD Reports
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