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https://www.readbyqxmd.com/read/29775011/-hyper-ige-syndromes
#1
REVIEW
Y Y He, B Liu, X P Xiao
A hyper-IgE syndrome is a rare immunodeficiesncy disease, often accompanied by high serum IgE. It often characterized by facial features, repeated skin infections, eczema and pulmonary infection, including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). AR-HIES is caused by mutations in STAT3, which is presented as connective tissue, bone, vascular disease, and high brain white matter signal. AD-HIES is mainly caused by mutations in DOCK8 and TYK2, which is presented as severe viral infection and poor prognosis...
June 5, 2017: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29774890/genetic-and-clinical-aspects-of-wolfram-syndrome-1-a-severe-neurodegenerative-disease
#2
REVIEW
Luciana Rigoli, Placido Bramanti, Chiara Di Bella, Filippo De Luca
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER calcium homeostasis. Different types of WFS1 mutations have been identified, and some of these have been associated with a dominant, severe type of WS...
May 2018: Pediatric Research
https://www.readbyqxmd.com/read/29774761/development-of-a-rapid-uplc-ms-ms-determination-of-urine-sulfocysteine-for-diagnosis-of-sulfocysteinuria-and-molybdenum-co-factor-deficiencies
#3
Yi Jiang, Brandon Mistretta, Sarah H Elsea, Qin Sun
AIM: Molybdenum co-factor deficiencies and isolated sulfite oxidase deficiency are rare autosomal recessively inherited diseases characterized by severe psychomotor impairment, intractable seizures, dislocated lens and dysmorphic facial features. The biochemical diagnosis of these diseases requires the determination of urine sulfocysteine. MATERIALS & METHODS: Urine sulfocysteine was quantified by an ultra-high performance liquid chromatography-MS/MS assay. The method was validated for linearity, accuracy, precision, recovery and stability...
May 18, 2018: Bioanalysis
https://www.readbyqxmd.com/read/29774655/ctc1-stn1-coordinates-g-and-c-strand-synthesis-to-regulate-telomere-length
#4
Peili Gu, Shuting Jia, Taylor Takasugi, Eric Smith, Jayakrishnan Nandakumar, Eric Hendrickson, Sandy Chang
Coats plus (CP) is a rare autosomal recessive disorder caused by mutations in CTC1, a component of the CST (CTC1, STN1, and TEN1) complex important for telomere length maintenance. The molecular basis of how CP mutations impact upon telomere length remains unclear. The CP CTC1L1142H mutation has been previously shown to disrupt telomere maintenance. In this study, we used CRISPR/Cas9 to engineer this mutation into both alleles of HCT116 and RPE cells to demonstrate that CTC1:STN1 interaction is required to repress telomerase activity...
May 17, 2018: Aging Cell
https://www.readbyqxmd.com/read/29774539/clinical-and-molecular-characterization-of-indian-patients-with-fructose-1-6-bisphosphatase-deficiency-identification-of-a-frequent-variant-e281k
#5
Pratibha Bhai, Sunita Bijarnia-Mahay, Ratna D Puri, Renu Saxena, Deepti Gupta, Udhaya Kotecha, Anil Sachdev, Dhiren Gupta, Vyomesh Vyas, Divya Agarwal, Vivek Jain, Rajeev K Bansal, Tapisha G Kumar, Ishwar Chander Verma
Fructose-1, 6-bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life-threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Accurate diagnosis can be achieved either by enzyme assay or gene studies. Enzyme assay requires a liver biopsy and is tedious, invasive, expensive, and not easily available...
May 18, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29774402/subtrochanteric-and-diaphyseal-femoral-fractures-in-hypophosphatasia-not-atypical-at-all
#6
F Genest, L Seefried
Risk for subtrochanteric and diaphyseal femoral fractures is considered increased in patients with hypophosphatasia (HPP). Evaluating a large cohort of HPP patients, we could for the first time quantify the prevalcence and identify both morphometric features as well as predisposing factors for this complication of severe HPP. INTRODUCTION: Subtrochanteric and diaphyseal femoral fractures have been associated with both, long-term antiresorptive treatment and metabolic bone disorders, specifically Hypophosphatasia (HPP)...
May 17, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#7
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29773422/a-novel-homozygous-abca1-variant-in-an-asymptomatic-man-with-profound-hypoalphalipoproteinemia
#8
Yaser Carcora, Robert D Brook, Linda Farhat, Cristen J Willer, Melvyn Rubenfire, Daniel Seung Kim
Low high-density lipoprotein cholesterol (HDL-C) can be caused by several acquired secondary causes as well as primary genetic disorders. However, only a few conditions are associated with profoundly reduced levels below 10 mg/dL. We present an unusual case of a healthy man with severely decreased HDL-C because of a novel homozygous variant causing a Proline > Arginine amino acid change at position 1312 in the ATP-binding cassette transporter A1 gene. Homozygous variations in ATP-binding cassette transporter A1 typically cause Tangier disease, a rare autosomal recessive condition linked with several other abnormalities (eg, enlarged discolored tonsils)...
April 21, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29773347/lipophilic-methylene-blue-analogues-enhance-mitochondrial-function-and-increase-frataxin-levels-in-a-cellular-model-of-friedreich-s-ataxia
#9
Omar M Khdour, Indrajit Bandyopadhyay, Sandipan Roy Chowdhury, Nishant P Visavadiya, Sidney M Hecht
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder resulting from reduced expression of the protein frataxin (FXN). Although its function is not fully understood, frataxin appears to help assemble iron sulfur clusters; these are critical for the function of many proteins, including those needed for mitochondrial energy production. Finding ways to increase FXN levels has been a major therapeutic strategy for this disease. Previously, we described a novel series of methylene violet analogues and their structural optimization as potential therapeutic agents for neurodegenerative and mitochondrial disorders...
May 4, 2018: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/29773081/long-term-familial-mediterranean-fever-remission-on-successful-hepatitis-c-virus-treatment-in-a-patient-not-responding-to-colchicine-a-case-report
#10
Manik Gemilyan, Gagik Hakobyan, Susanna Ananyan
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disorder characterized by periodic febrile attacks of aseptic serositis and/or arthritis. The main treatment is colchicine which prevents attacks in the majority of patients except for a group of colchicine-resistant cases. Chronic hepatitis C is a viral infection causing chronic inflammation of liver tissue (hepatitis) which ultimately progresses to fibrosis and liver cirrhosis with a high chance of hepatocellular carcinoma...
May 18, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29772816/alpha-mannosidosis-therapeutic-strategies
#11
REVIEW
Maria Rachele Ceccarini, Michela Codini, Carmela Conte, Federica Patria, Samuela Cataldi, Matteo Bertelli, Elisabetta Albi, Tommaso Beccari
Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal α-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis...
May 17, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29771863/upshaw-schulman-syndrome-with-c-2728c-t-mutation-in-adamts13-gene
#12
Shahzadi Resham, Zehra Fadoo, Bushra Moiz
Congenital thrombotic thrombocytopenic purpura is a rare autosomal recessive disorder presenting with hemolytic anemia, thrombocytopenia, micro vascular thrombosis, and end organ damage. Here, we present a case of a 7-year-old girl having recurrent neonatal hemolysis, developmental delay, frequent seizures, and thrombocytopenia. Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome. She was treated successfully with plasma infusion...
May 16, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29770739/-express-novel-ntrk1-mutations-in-chinese-patients-with-congenital-insensitivity-to-pain-with-anhidrosis
#13
Xingzhu Geng, Yanshan Liu, Xiuzhi Ren, Yun Guan, Yanzhou Wang, Bin Mao, Xiuli Zhao, Xue Zhang
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). However, the details of NTRK1 mutations in Chinese CIPA patients remain unclear. In the present study, we recruited 36 CIPA patients from 34 unrelated families in mainland China. Blood samples from these patients and their available familial members were collected and subjected to genetic analysis...
January 1, 2018: Molecular Pain
https://www.readbyqxmd.com/read/29770442/current-concepts-in-the-neuropathogenesis-of-mucolipidosis-type-iv
#14
REVIEW
Lauren C Boudewyn, Steven U Walkley
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan. MLIV results from mutations in the gene MCOLN1 encoding the transient receptor potential channel mucolipin-1. It is an ultra-rare disease and is currently known to affect just over 100 diagnosed individuals. The last decade has provided a wealth of research focused on understanding the role of the enigmatic mucolipin-1 protein in cell and brain function and how its absence causes disease...
May 16, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#15
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29769798/novel-variants-identified-with-next-generation-sequencing-in-polish-patients-with-cone-rod-dystrophy
#16
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, Zuzanna Niedziela, Rafal Ploski, Malgorzata Rydzanicz, Maciej Sykulski, Jaroslaw Kociecki, Nicole Weisschuh, Susanne Kohl, Saskia Biskup, Bernd Wissinger, Maciej R Krawczynski
Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of photoreceptors and retinal pigment epithelium (RPE) cells. Methods: The study group was composed of four groups of patients representing different Mendelian inheritance of the disease: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XL), and autosomal recessive or X-linked recessive (AR/XL)...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29768431/loss-of-htra1-serine-protease-induces-synthetic-modulation-of-aortic-vascular-smooth-muscle-cells
#17
Muthi Ikawati, Masashi Kawaichi, Chio Oka
Homozygous mutations of human HTRA1 cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). HtrA1-/- mice were examined for arterial abnormalities. Although their cerebral arteries were normal, the thoracic aorta was affected in HtrA1-/- mice. The number of vascular smooth muscle cells (VSMCs) in the aorta was increased in HtrA1-/- mice of 40 weeks or younger, but decreased thereafter. The cross-sectional area of the aorta was increased in HtrA1-/- mice of 40 weeks or older...
2018: PloS One
https://www.readbyqxmd.com/read/29768383/treatable-massive-pericardial-effusion-and-hypertrophic-cardiomyopathy-in-an-infant-with-a-novel-homozygous-acadvl-mutation-a-case-report
#18
Yoo-Mi Kim, Geena Kim, Hoon Ko, Han-Wook Yoo, Hyoung Doo Lee
RATIONALE: Infantile-onset hypertrophic cardiomyopathy (HCMP) should be considered a largely genetic condition, although its onset is most often triggered by infection. Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive inborn error of mitochondrial fatty acid β-oxidation that often causes severe cardiomyopathy and/or sudden death during the neonatal period. PATIENT CONCERNS: Herein, we report an infant with VLCAD deficiency who presented with severe cardiac manifestations, including massive pericardial effusion and HCMP...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29768370/a-case-report-of-neurological-complications-owing-to-lately-diagnosed-hyperargininemia-emphasizing-the-role-of-national-neonatal-screening-policies-in-the-kingdom-of-bahrain
#19
Moiz Bakhiet, Aminah M I AlAwadi, Maryam M AlHammadi, Maryam F Ali, Noora Butti
INTRODUCTION: Arginine is an essential amino acid that plays an important role in various body functions including cell division, wound healing, removal of ammonia, immune function, and release of hormones. Hyperargininemia, an autosomal recessive genetic disorder, is considered one of the least common urea cycle disorders. It rarely presents in the neonatal period but rather appears in children at the age between 2 and 4 years. CASE PRESENTATION: Herein, we demonstrate a case of a 14-year-old female who presented to the neurology clinic with several neurological complications, which were found to be a consequence of high levels of arginine discovered after performing a metabolic screening test...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29768338/botulinum-toxin-injection-to-improve-functional-independence-and-to-alleviate-parenting-stress-in-a-child-with-advanced-pantothenate-kinase-associated-neurodegeneration-a-case-report-and-literature-review
#20
Cho-I Lin, Kuan-Lin Chen, Ta-Shen Kuan, Sheng-Han Lin, Wei-Pin Lin, Yu-Ching Lin
RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease. Progressive motor symptoms such as dystonia and spasticity begin in childhood and relentlessly become incapacitating later in life. Treatments including anticholinergics and iron chelation are usually ineffective. Botulinum toxin type A (BoNT-A) is effective for adult patients with dystonia or spasticity. PATIENT CONCERNS: We reported a 10-year-old female patient with advanced PKAN, manifesting as generalized dystonia and spasticity...
May 2018: Medicine (Baltimore)
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