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Adrenoleukodystrophy

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https://www.readbyqxmd.com/read/29446847/lipidomic-analysis-from-archaea-to-mammals
#1
REVIEW
Tomáš Řezanka, Irena Kolouchová, Lucia Gharwalová, Andrea Palyzová, Karel Sigler
Lipids are among the most important organic compounds found in all living cells, from primitive archaebacteria to flowering plants or mammalian cells. They form part of cell walls and constitute cell storage material. Their biosynthesis and metabolism play key roles in faraway topics such as biofuel production (third-generation biofuels produced by microorganisms, e.g. algae) and human diseases such as adrenoleukodystrophy, Zellweger syndrome, or Refsum disease. Current lipidomic analysis requires fast and accurate processing of samples and especially their characterization...
February 15, 2018: Lipids
https://www.readbyqxmd.com/read/29438773/peroxisomal-disorders-improved-laboratory-diagnosis-new-defects-and-the-complicated-route-to-treatment
#2
Ronald J A Wanders
Peroxisomes catalyze a number of essential metabolic functions of which fatty acid alpha- and beta-oxidation, ether phospholipid biosynthesis, glyoxylate detoxification and bile acid synthesis are the most important. The key role of peroxisomes in humans is exemplified by the existence of a group of peroxisomal disorders, caused by mutations in > 30 different genes which codes for proteins with a role in either peroxisome biogenesis or one of the metabolic pathways in peroxisomes. Technological advances in laboratory methods at the metabolite-, enzyme-, and molecular level has not only allowed the identification of a new peroxisomal disorder but also new phenotypes associated with already identified genetic defects thus extending the clinical spectrum...
February 10, 2018: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/29392586/transplantation-as-disease-modifying-therapy-in-adults-with-inherited-metabolic-disorders
#3
REVIEW
Sandra Sirrs, Fady Hannah-Shmouni, Stephen Nantel, James Neuberger, Eric M Yoshida
Transplantation is an established disease modifying therapy in selected children with certain inherited metabolic diseases (IMDs). Transplantation of hematopoietic stem cells or solid organs can be used to partially correct the underlying metabolic defect, address life threatening disease manifestations (such as neutropenia) or correct organ failure caused by the disease process. Much less information is available on the use of transplantation in adults with IMDs. Transplantation is indicated for the same IMDs in adults as in children...
February 1, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29390592/unusual-brain-images-of-a-boy-with-adolescent-cerebral-x-linked-adrenoleukodystrophy-presenting-with-exhibitionism-a-care-compliant-case-report
#4
Feixia Zheng, Zhongdong Lin, Xiuyun Ye, Xulai Shi
RATIONALE: The respective involvements of both the thalamus and exhibitionism in cerebral X-linked adrenoleukodystrophy (X-ALD) have not been reported. PATIENT CONCERNS: An 11-year-old boy initially presented with exhibitionism and progressive neurobehavioral symptoms. He subsequently developed transient urinary and fecal incontinence, and an unwillingness to eat or communicate. DIAGNOSES: We conducted contrast-enhanced brain magnetic resonance imaging (MRI), which revealed symmetrical altered signal intensities in bilateral frontal white matter, the basal ganglia, and dorsal thalami, as well as a peripheral rim of contrast enhancement...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29386416/childhood-cerebral-x-linked-adrenoleukodystrophy-with-atypical-neuroimaging-abnormalities-and-a-novel-mutation
#5
M Muranjan, S Karande, S Sankhe, S Eichler
Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities. A major diagnostic clue is the characteristic neuroinflammatory parieto-occipital white matter lesions on magnetic resonance imaging. This study reports a 5-year 10-month old boy presenting with generalized skin hyperpigmentation since 3 years of age. Over the past 9 months, he had developed right-sided hemiparesis and speech and behavioral abnormalities, which had progressed over 5 months to bilateral hemiparesis...
January 2018: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/29385852/clinical-trial-of-mgmt-p140k-gene-therapy-in-the-treatment-of-paediatric-patients-with-brain-tumours
#6
Belinda Kramer, Radhika Singh, Jessica Wischusen, Rebecca Velickovic, Amanda Rush, Shiloh Middlemiss, Yu-Wooi Ching, Ian Edward Alexander, Geoffrey B McCowage
Gene transfer targeting haematopoietic stem cells (HSC) in children has shown sustained therapeutic benefit in the treatment of genetic diseases affecting the immune system, most notably in the severe combined immuno-deficiencies affecting T cell function. The HSC compartment has also been successfully targeted using gene transfer in children with genetic diseases affecting the central nervous system, such as metachromatic leukodystrophy and adrenoleukodystrophy. The HSC is also a target for genetic modification in strategies aiming to confer drug resistance to chemotherapy agents so as to reduce off-target toxicity, and to allow for chemotherapy dose escalation with the possibility of enhanced therapeutic benefit...
January 31, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29385368/gene-therapy-for-cerebral-adrenoleukodystrophy
#7
(no author information available yet)
No abstract text is available yet for this article.
February 1, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29344584/early-and-late-outcomes-after-cord-blood-transplantation-for-pediatric-patients-with-inherited-leukodystrophies
#8
Brigitte T A van den Broek, Kristin Page, Annalisa Paviglianiti, Janna Hol, Heather Allewelt, Fernanda Volt, Gerard Michel, Miguel Angel Diaz, Victoria Bordon, Tracey O'Brien, Peter J Shaw, Chantal Kenzey, Amal Al-Seraihy, Peter M van Hasselt, Andrew R Gennery, Eliane Gluckman, Vanderson Rocha, Annalisa Ruggeri, Joanne Kurtzberg, Jaap Jan Boelens
Leukodystrophies (LD) are devastating inherited disorders leading to rapid neurological deterioration and premature death. Hematopoietic stem cell transplantation (HSCT) can halt disease progression for selected LD. Cord blood is a common donor source for transplantation of these patients because it is rapidly available and can be used without full HLA matching. However, precise recommendations allowing care providers to identify patients who benefit from HSCT are lacking. In this study, we define risk factors and describe the early and late outcomes of 169 patients with globoid cell leukodystrophy, X-linked adrenoleukodystrophy, and metachromatic leukodystrophy undergoing cord blood transplantation (CBT) at an European Society for Blood and Marrow Transplantation center or at Duke University Medical Center from 1996 to 2013...
January 9, 2018: Blood Advances
https://www.readbyqxmd.com/read/29330393/haploidentical-bone-marrow-transplantation-with-post-transplant-cyclophosphamide-for-patients-with-x-linked-adrenoleukodystrophy-a-suitable-choice-in-an-urgent-situation
#9
Juliana Folloni Fernandes, Carmem Bonfim, Fábio Rodrigues Kerbauy, Morgani Rodrigues, Iracema Esteves, Nathalia Halley Silva, Alessandra Prandini Azambuja, Luiz Fernando Mantovani, José Mauro Kutner, Gisele Loth, Cilmara Cristina Kuwahara, Clarissa Bueno, Andrea Tiemi Kondo, Andreza Alice Feitosa Ribeiro, Fernando Kok, Nelson Hamerschlak
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only treatment that enhances survival and stabilizes neurologic symptoms in X-linked adrenoleukodystrophy (X-ALD) with cerebral involvement, a severe demyelinating disease of childhood. Patients with X-ALD who lack a well-matched HLA donor need a rapid alternative. Haploidentical HSCT using post transplant cyclophosphamide (PT/Cy) has been performed in patients with malignant and nonmalignant diseases showing similar outcomes compared to other alternative sources...
January 12, 2018: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29302065/adulthood-leukodystrophies
#10
REVIEW
Wolfgang Köhler, Julian Curiel, Adeline Vanderver
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood. We summarize 20 leukodystrophies with adult presentations, providing information on the underlying genetic mutations and on biochemical assays that aid diagnosis, where available. Definitions, clinical characteristics, age of onset, MRI findings and treatment options are all described, providing a comprehensive overview of the current knowledge of the various adulthood leukodystrophies...
January 5, 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29284317/autonomic-dysfunction-in-a-patient-with-x-linked-adrenoleukodystrophy
#11
Yifan Zhang, Dongmei Guo, Yi Tang
X-linked adrenoleukodystrophy is an inherited disease caused by abnormal accumulation of very long chain fatty acids. The diagnosis of X-linked adrenoleukodystrophy can be confirmed with the mutation of ABCD1 gene. The main symptom of the X-linked adrenoleukodystrophy is spastic paraparesis, and autonomic dysfunction is rare in X-linked adrenoleukodystrophy. Here, we presented an X-ALD case of a 46-year-old Asian male with severe autonomic dysfunction. Impairment of the autonomic nervous system may closely relate to mitochondrial defect...
December 28, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29201369/x-linked-adult-onset-adrenoleukodystrophy-psychiatric-and-neurological-manifestations
#12
Daniah Shamim, Karen Alleyne
Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric disorder. Prior to onset of neurological symptoms, this patient demonstrated a schizophrenia and bipolar-like presentation. The disease progressed over the next 10-13 years and his memory and motor problems became evident around the age of 33 years. Subsequently, diagnostic testing showed the typical magnetic resonance imaging and lab findings for adult-onset adrenoleukodystrophy...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29200571/adolescent-onset-x-linked-adrenoleukodystrophy-presenting-as-treatment-resistant-bipolar-disorder
#13
Anirban Ray, Satish Chandra Girimaji, Rose Dawn Bharath
A small proportion of bipolar disorder of adolescent onset can be secondary to underlying neurological disorder (secondary mania). We report a case of treatment-resistant mania secondary to cerebral form of adrenoleukodystrophy of adolescent onset. This case demonstrates the need for clinicians to be alert to the possibility of rare neurological diseases that can present with psychiatric manifestations.
September 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/29175874/psychiatric-disease-in-an-adolescent-as-a-harbinger-of-cerebral-x-linked-adrenoleukodystrophy
#14
Jessica Smith, Mitchel T Williams, Vinod K Misra
X-linked adrenoleukodystrophy (XALD) typically presents as a childhood cerebral demyelinating form, as an adult-onset adrenomyeloneuropathy or as adrenocortical insufficiency. Cerebral demyelination presenting in adolescence is unusual. We present an 17-year-old boy with adolescent-onset XALD initially manifesting with slowly progressive psychiatric symptoms. He was initially diagnosed with attention-deficit hyperactivity disorder and an acute psychosis. However, he was ultimately diagnosed with XALD based on his clinical course, neuroimaging findings and biochemical abnormalities...
November 24, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29152099/s149r-a-novel-mutation-in-the-abcd1-gene-causing-x-linked-adrenoleukodystrophy
#15
Fang Yan, Wenbo Wang, Hui Ying, Hongyu Li, Jing Chen, Chao Xu
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very long-chain fatty acids. For the first time, we report a case of olivopontocerebellar X-ALD on the Chinese mainland. In this study, a novel mutation (c.447T>A; p.S149R) in ABCD1 was detected in a patient diagnosed with X-ALD...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29136088/abcd1-dysfunction-alters-white-matter-microvascular-perfusion
#16
Arne Lauer, Xiao Da, Mikkel Bo Hansen, Gregoire Boulouis, Yangming Ou, Xuezhu Cai, Afonso Liberato Celso Pedrotti, Jayashree Kalpathy-Cramer, Paul Caruso, Douglas L Hayden, Natalia Rost, Kim Mouridsen, Florian S Eichler, Bruce Rosen, Patricia L Musolino
Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative disorder caused by mutations in the ABCD1 gene, which lead to a rapidly progressive cerebral inflammatory demyelination in up to 60% of affected males. Selective brain endothelial dysfunction and increased permeability of the blood-brain barrier suggest that white matter microvascular dysfunction contributes to the conversion to cerebral disease. Applying a vascular model to conventional dynamic susceptibility contrast magnetic resonance perfusion imaging, we demonstrate that lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease...
November 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29132975/a-novel-temporal-pattern-of-childhood-cerebral-x-linked-adrenoleukodystrophy
#17
Emanuela C Turco, Francesca Ormitti, Anna Andreolli, Marina Barsacchi, Carlotta Facini, Francesco Pisani
We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep. Behavioural impairment has been observed since the previous five months. Magnetic Resonance Images (MRI) revealed isolated bilateral, symmetric, confluent temporal white matter lesions involving also corticospinal tracts, with sparing of the parieto-occipital and frontal white matter. This report outlines an atypical neuroradiological localization of X-linked adrenoleukodystrophy and neuropsychological findings not specifically related to the brain involvement seen at the MRI...
November 10, 2017: Brain & Development
https://www.readbyqxmd.com/read/29128817/generation-of-induced-pluripotent-stem-cell-ipsc-line-from-a-21-year-old-x-linked-adrenoleukodystrophy-x-ald-patient
#18
Young Rang You, Daryeon Son, Phil Jun Kang, Seungkwon You, Dae-Sung Kim
X-linked Adrenoleukodystrophy (X-ALD) is a genetic disease that caused by mutations in adenosine triphosphate [ATP]-binding-cassette transporter superfamily D member 1 (ABCD1) gene. We generated an induced pluripotent stem cell (iPSC) line from a 21-year-old male X-ALD patient-derived fibroblasts by Sendai virus mediated reprogramming. Established iPSCs stably expanded while maintaining immunoreactivity for various pluripotency markers and alkaline phosphatase, as well as normal 44+XY karyotype. Under the differentiation condition, the cells gave rise to cells of three germ layers...
November 9, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29116030/management-of-x-linked-adrenoleukodystrophy-in-morocco-actual-situation
#19
F Z Madani Benjelloun, Y Kriouile, D Cheillan, H Daoud-Tetouani, L Chabraoui
OBJECTIVES: X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, and follow-up of this disease in Morocco. RESULTS: We developed three protocols of X-linked Adrenoleukodystrophy management: general protocol, asymptomatic protocol, and heterozygous protocol...
November 7, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29097134/clinical-course-and-long-term-outcome-in-children-with-alteration-of-consciousness-underwent-continuous-eeg-monitoring-a-prospective-observational-study-in-thailand
#20
Thitiporn Fangsaad, Siriluk Assawabumrungkul, Anannit Visudtibhan
The study aims to explore the clinical course and long-term outcome in children with altered consciousness who underwent cEEG monitoring. A prospective observational study was conducted in neonatal and pediatric intensive care units from 1 September 2014 through 31 March 2017. Standard 10-20 cEEG monitoring was applied. Twenty children were included in this study. Their ages ranged from 1 day to 142.7 months (median age 40.6 months). Continuous EEG was commenced from 5 h to 5 days after the onset of alteration of consciousness (median 40...
October 30, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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