keyword
MENU ▼
Read by QxMD icon Read
search

autosomal

keyword
https://www.readbyqxmd.com/read/29150909/genetic-analysis-of-osteogenesis-imperfecta-in-the-palestinian-population-molecular-screening-of-49-affected-families
#1
Osama Essawi, Sofie Symoens, Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert, Tamer Essawi, Bert Callewaert, Anne De Paepe, Fransiska Malfait, Paul J Coucke
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures. METHODS: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes. RESULTS: In 41 probands, we identified 28 different disease-causing variants of 9 different known OI genes...
November 18, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29150899/p-arg69trp-in-rnaseh2c-is-a-founder-variant-in-three-indian-families-with-aicardi-gouti%C3%A3-res-syndrome
#2
Malavika Hebbar, Anil Kanthi, Aroor Shrikiran, Snehal Patil, Mamta Muranjan, Febi Francis, Vishnu Bhat B, Katta M Girisha, Anju Shukla
Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon-α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS. Here we report three Indian families with variant, c...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150246/development-of-the-autosomal-dominant-polycystic-kidney-disease-impact-scale-a-new-health-related-quality-of-life-instrument
#3
Dorothee Oberdhan, Jason C Cole, Holly B Krasa, Rebecca Cheng, Frank S Czerwiec, Ron D Hays, Arlene B Chapman, Ronald D Perrone
BACKGROUND: The impact of autosomal dominant polycystic kidney disease (ADPKD) on health-related quality of life (HRQoL) is not well understood due to a lack of instruments specific to the condition. STUDY DESIGN: Content for a new self-administered patient-reported outcome (PRO) questionnaire to assess ADPKD-related HRQoL was developed through clinical expert and patient focus group discussions. The new PRO instrument was administered to study patients with ADPKD to evaluate its reliability and validity...
November 14, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#4
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29149836/are-there-different-kinds-of-aging
#5
Amalia Gabriela Diaconeasa
A critical analysis of the accelerated aging syndromes may explain what aging is, but also why some tissues and organs age at accelerated rates in comparison with aging rates of other tissues. Syndromes of accelerated aging are caused by mutations affecting the integrity of the genetic material. Among them, the most studied is Werner's syndrome, "adult progeria", caused by a recessive autosomal mutation with a frequency of 1 in 10 millions, which affects a helicase involved in DNA repair. In Werner syndrome, there is a loss of heterochromatin, though the stability of heterochromatin is also affected in "normal" aging...
November 16, 2017: Current Aging Science
https://www.readbyqxmd.com/read/29149593/notch2-hajdu-cheney-mutations-escape-scf-fbw7-dependent-proteolysis-to-promote-osteoporosis
#6
Hidefumi Fukushima, Kouhei Shimizu, Asami Watahiki, Seira Hoshikawa, Tomoki Kosho, Daiju Oba, Seiji Sakano, Makiko Arakaki, Aya Yamada, Katsuyuki Nagashima, Koji Okabe, Satoshi Fukumoto, Eijiro Jimi, Anna Bigas, Keiichi I Nakayama, Keiko Nakayama, Yoko Aoki, Wenyi Wei, Hiroyuki Inuzuka
Hajdu-Cheney syndrome (HCS), a rare autosomal disorder caused by heterozygous mutations in NOTCH2, is clinically characterized by acro-osteolysis, severe osteoporosis, short stature, neurological symptoms, cardiovascular defects, and polycystic kidneys. Recent studies identified that aberrant NOTCH2 signaling and consequent osteoclast hyperactivity are closely associated with the bone-related disorder pathogenesis, but the exact molecular mechanisms remain unclear. Here, we demonstrate that sustained osteoclast activity is largely due to accumulation of NOTCH2 carrying a truncated C terminus that escapes FBW7-mediated ubiquitination and degradation...
November 16, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29148562/recurrence-of-reported-cdh23-mutations-causing-dfnb12-in-a-special-cohort-of-south-indian-hearing-impaired-assortative-mating-families-an-evaluation
#7
Paridhy Vanniya S, Jayasankaran Chandru, Amritkumar Pavithra, Justin Margret Jeffrey, Murugesan Kalaimathi, Rajagopalan Ramakrishnan, Natarajan P Karthikeyen, Srisailapathy C R Srikumari
Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population. We screened for CDH23 mutations to identify prevalent and recurring mutations among South Indian assortative mating hearing-impaired individuals who were identified as non-DFNB1 (GJB2 and GJB6). Whole-exome sequencing was performed in individuals found to be heterozygous for CDH23 to determine whether there was a second pathogenic allele...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29148179/clinical-implications-of-de-barsy-syndrome
#8
Lindsay L Warner, David A Olsen, Hugh M Smith
BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. AIMS: The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome. METHODS: A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29148123/donohue-syndrome-a-review-of-literature-case-series-and-anesthetic-considerations
#9
REVIEW
Alana Kirkwood, Grant Stuart, Louise Harding
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. An accelerated fasting state results in muscle wasting, decreased subcutaneous fat, and an excess of thick skin. A reduced thoracic diameter is accentuated by increased abdominal distension, which impacts on respiratory reserve...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29147911/dj-1-as-a-therapeutic-target-against-cancer
#10
Ji Cao, Xiaobing Chen, Meidan Ying, Qiaojun He, Bo Yang
DJ-1 is a gene involved in various cellular processes, including transcriptional regulation, oxidative stress response, fertilization, mitochondrial regulation, inflammatory and fibrogenic niche formation, and glycation damage prevention. Although a disease-associated genetic study within the past decade has demonstrated that the mutation of DJ-1 is associated with autosomal early-onset Parkinson's disease, increasing evidence suggests that DJ-1 also plays a critical role in tumor development and progression...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29147901/expression-of-dj-1-in-neurodegenerative-disorders
#11
Daria Antipova, Rina Bandopadhyay
In 2003, autosomal recessive loss-of-function mutations were identified in PARK7 gene that caused early-onset Parkinson's disease (PD). The PARK7 gene encodes a conserved protein termed DJ-1. DJ-1 is a ubiquitous protein, and within the brain, it is present in the nucleus and cytoplasm of both neuronal and glial cells. DJ-1 is a multifunctional protein, and numerous studies have ascribed various roles, including antioxidative properties, chaperone function, protease activities, mitochondrial functions and regulation of transcription to the protein...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29147802/executive-summary-of-the-12th-hht-international-scientific-conference
#12
Jillian W Andrejecsk, Anna E Hosman, Luisa M Botella, Claire L Shovlin, Helen M Arthur, Sophie Dupuis-Girod, Elisabetta Buscarini, Christopher C W Hughes, Franck Lebrin, Christine L Mummery, Marco C Post, Johannes J Mager
Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. In total 174 abstracts were accepted of which 58 were selected for oral presentations...
November 16, 2017: Angiogenesis
https://www.readbyqxmd.com/read/29147684/c-207c-g-mutation-in-sepiapterin-reductase-causes-autosomal-dominant-dopa-responsive-dystonia
#13
Ali S Shalash, Thomas W Rösler, Stefanie H Müller, Mohamed Salama, Günther Deuschl, Ulrich Müller, Thomas Opladen, Britt-Sabina Petersen, Andre Franke, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U Höglinger
Objective: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods: Rare variants in all coding exons of GCH1 were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate the functional consequences of detected genetic variants, urinary sepiapterin concentrations were determined by high-performance liquid chromatography...
December 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/29147633/a-unique-case-of-carotid-splaying-by-a-cervical-vagal-neurofibroma-and-the-role-of-neuroradiology-in-surgical-management
#14
Sally A Itawi, Mark Buehler, Robert E Mrak, Tarek R Mansour, Yacine Medhkour, Azedine Medhkour
Carotid splaying, also known as the Lyre sign, is a widening of the carotid bifurcation due to the displacement of the internal carotid artery and the external carotid artery just distal to the point of divergence. This phenomenon is classically exhibited by highly vascularized carotid body tumors and, in rare cases, by cervical sympathetic chain schwannomas. Demonstration of the Lyre sign by a cervical vagal neurofibroma, however, is a unique occurrence that has not been previously documented in the literature...
September 7, 2017: Curēus
https://www.readbyqxmd.com/read/29147600/osteoglophonic-dysplasia-phenotypic-and-radiological-clues
#15
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, Kenneth E White, Sheela Nampoothiri
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29147571/a-surprising-treatment-response-in-a-patient-with-rare-isolated-growth-hormone-deficiency-type-ib
#16
Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian
Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race). Basal hormone levels showed undetectable serum IGF1. Skeletal wrist age was consistent with chronologic age...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29147436/repeated-multiple-neurofibromatosis-type-1-in-the-right-lower-limb-a-case-report
#17
Leitao Huang, Yi Ding, Lai Qi, Xia Wu, Wei Li, Gendong Huang, Min Dai, Bing Zhang
Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disease characterized by the presence of multiple neurofibromas. We encountered a unique case of NF1 that manifested as a recurrent soft tissue neurofibroma in the right lower limb that developed over a period of 16 years. The patient presented with a painless mass that was initially diagnosed as inflammatory changes via computed tomography and magnetic resonance imaging. However, the condition was subsequently diagnosed as an intraneural neurofibroma via pathological and immunohistochemical examination, which showed a focal to patchy lymphocytic chronic inflammatory infiltrate and several non-encapsulated masses with clear boundaries that were easily distinguishable from the adjacent neurofibroma...
April 2017: World Journal of Oncology
https://www.readbyqxmd.com/read/29147139/insights-into-the-management-of-wilson-s-disease
#18
REVIEW
Mohmadshakil Kathawala, Gideon M Hirschfield
Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B, results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. Affected patients accumulate excessive copper within the liver, brain and other tissues. A disease mainly of children, adolescents and young adults; clinical features vary from the asymptomatic state to chronic liver disease, acute liver failure, and neuropsychiatric manifestations...
November 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/29146893/von-hippel-lindau-disease-with-multi-organ-involvement-a-case-report-and-8-year-clinical-course-with-follow-up
#19
Ali Yaghobi Joybari, Payam Azadeh
BACKGROUND Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome manifested by a spectrum of benign and malignant tumors.  CASE REPORT The patient presented here was a 31-year-old female with unremarkable family history who presented initially complaining of intermittent abdominal pain. Abdominal CT scan revealed an inhomogeneous solid mass (13×9×7 cm) originating from the tail of the pancreas with splenic and gastric invasion as well as several pancreatic cysts. A nucleotide scan showed left adrenal involvement...
November 17, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#20
Catharina Busch, Robert Voitl, Barbara Goergen, Tomasz Zemojtel, Petra Gehle, Daniel J Salchow
BACKGROUND: Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking. METHODS: Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients. RESULTS: Mean age was 37...
November 16, 2017: British Journal of Ophthalmology
keyword
keyword
59369
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"