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https://www.readbyqxmd.com/read/28723766/lady-with-wings-a-case-report-of-giant-neurofibromatosis-type-i
#1
Suraj Maharjan, Xiucun Li, Jianli Cui, Yang Liu, Laijin Lu
RATIONALE: Neurofibromatosis type I (NF-I) accounts for approximately 90% of neurofibromatosis. NF-I is an autosomal dominant genetic disease which results from the gene mutation of NF-I situated in chromosome 17q11.2. PATIENT CONCERNS: A 32-year-old lady presented with a giant wing like structure on her back which started growing from her childhood. DIAGNOSIS: A diagnosis of NF-I was confirmed as she presented with multiple cutaneous nodules, multiple café-au-lait macules of different sizes, scoliosis deformity, and positive family history of neurofibroma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723471/urinary-tract-infections-in-immunocompromised-patients-with-diabetes-chronic-kidney-disease-and-kidney-transplant
#2
REVIEW
Zafer Tandogdu, Tommaso Cai, Bela Koves, Florian Wagenlehner, Truls Erik Bjerklund-Johansen
CONTEXT: This paper provides a brief overview of urinary tract infections (UTIs) in immunocompromised patients from the perspective of a practicing urologist. OBJECTIVE: The primary objective was to provide an update on UTIs in immunocompromised patients. Diabetes mellitus (DM), chronic kidney disease, and kidney transplant (KT) are the most common clinical cases encountered by urologists. Diagnosis, management, and future research needs are summarised. EVIDENCE ACQUISITION: We conducted a nonsystematic review of the literature...
October 2016: European Urology Focus
https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#3
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary Familial Brain Calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
July 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28721681/genetic-characterization-and-disease-mechanism-of-retinitis-pigmentosa-current-scenario
#4
REVIEW
Muhammad Umar Ali, Muhammad Saif Ur Rahman, Jiang Cao, Ping Xi Yuan
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner...
August 2017: 3 Biotech
https://www.readbyqxmd.com/read/28721660/clinicopathologic-and-molecular-characteristics-of-familial-cherubism-with-associated-odontogenic-tumorous-proliferations
#5
Prokopios P Argyris, Rajaram Gopalakrishnan, Ying Hu, Ernst J Reichenberger, Ioannis G Koutlas
Cherubism is a rare autosomal dominant condition affecting the jaws and caused by mutations in the gene encoding for the adapter protein SH3BP2 that maps to chromosome 4p16.3. Cherubism is characterized by symmetrically developing bone lesions in the maxilla and mandible. The lesions have been radiographically and histopathologically well-described. Here, we present a family with cherubism with two of its members featuring odontogenic tumorous proliferations in association with persistent central giant cell lesions (CGCL)...
July 18, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28721627/two-chinese-pedigrees-of-blau-syndrome-with-thirteen-affected-members
#6
REVIEW
Di Wu, Min Shen
Blau syndrome (BS) is a rare autosomal dominant autoinflammatory disease characterized by the clinical triad of dermatitis, arthritis, and uveitis. It is caused by mutations in nucleotide-binding oligomerization domain-containing protein-2 (NOD2) gene. BS has been widely reported in Caucasians but cases documented in China are scarce. We reported two Chinese families with BS, which were by far the two largest pedigrees in the Chinese population. We identified two unrelated families with BS. The phenotypes and genotypes of these patients were reviewed and compared with previous cohorts...
July 18, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28720880/pattern-of-retinal-morphological-and-functional-decay-in-a-light-inducible-rhodopsin-mutant-mouse
#7
Claudia Gargini, Elena Novelli, Ilaria Piano, Martina Biagioni, Enrica Strettoi
Hallmarks of Retinitis Pigmentosa (RP), a family of genetic diseases, are a typical rod-cone-degeneration with initial night blindness and loss of peripheral vision, followed by decreased daylight sight and progressive visual acuity loss up to legal blindness. Great heterogeneity in nature and function of mutated genes, variety of mutations for each of them, variability in phenotypic appearance and transmission modality contribute to make RP a still incurable disease. Translational research relies on appropriate animal models mimicking the genetic and phenotypic diversity of the human pathology...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28720802/a-novel-adoa-associated-opa1-mutation-alters-the-mitochondrial-function-membrane-potential-ros-production-and-apoptosis
#8
Juanjuan Zhang, Xiaoling Liu, Xiaoyang Liang, Yuanyuan Lu, Ling Zhu, Runing Fu, Yanchun Ji, Wenlu Fan, Jie Chen, Bing Lin, Yimin Yuan, Pingping Jiang, Xiangtian Zhou, Min-Xin Guan
Autosomal dominant optic atrophy (ADOA) is a dominantly inherited optic neuropathy, affecting the specific loss of retinal ganglion cells (RGCs). The majority of affected cases of ADOA are associated with mutations in OPA1 gene. Our previous investigation identified the c.1198C > G (p.P400A) mutation in the OPA1 in a large Han Chinese family with ADOA. In this report, we performed a functional characterization using lymphoblostoid cell lines derived from affected members of this family and control subjects...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28718682/genetic-screening-of-scnn1b-and-scnn1g-genes-in-early-onset-hypertensive-patients-helps-to-identify-liddle-syndrome
#9
Kun-Qi Yang, Chao-Xia Lu, Peng Fan, Ying Zhang, Xu Meng, Xue-Qi Dong, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Hai-Ying Wu, Jun Cai, Xue Zhang, Xian-Liang Zhou
BACKGROUND: Liddle syndrome is an autosomal dominant form of monogenic hypertension. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, resulting in misdiagnosis and severe complications at early age. OBJECTIVES: To identify mutation in SCNN1B and SCNN1G genes in an adolescent with suspicious Liddle syndrome and his family members and to explore the screening target subjects of Liddle syndrome. METHODS: Genetic analysis of the C-terminus of SCNN1B and SCNN1G genes was conducted in an adolescent, with treatment-resistant hypertension and hypokalemia, who was suspected of having Liddle syndrome, and his family members...
July 18, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28718264/malignant-infantile-osteopetrosis
#10
Saima Gillani, Zaheer Abbas
Two main forms of osteopetrosis are recognized, a severe autosomal recessive form (MIM 259700) with an incidence of approximately 1 in 250,000 births and a mild autosomal dominant form (MIM166600) with an incidence of 1 in 20,000 births. Intrinsic disturbances of osteoclastic function due to mutations in genes encoding osteoclast-specific subunits of the vacuolar proton pump (TCIRG1, CLCN7) are found in most patients with recessive form. Mutations of CLCN7 are observed in dominant form of osteopetrosis .The recessive form of ostreopetrosis, i...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28717674/exactly-zero-or-once-a-clinically-helpful-guide-to-assessing-genetic-variants-in-mild-epilepsies
#11
Caitlin A Bennett, Slavé Petrovski, Karen L Oliver, Samuel F Berkovic
OBJECTIVE: To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population. METHODS: We studied 12 genes for the milder epilepsies and identified published variants with strong segregation support (de novo germline mutation or ≥4 affected family members). These variants were checked in the Exome Aggregation Consortium (ExAC), a database of genetic variation in over 60,000 individuals...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28716667/pupillometric-evaluation-of-the-melanopsin-containing-retinal-ganglion-cells-in-mitochondrial-and-non-mitochondrial-optic-neuropathies
#12
Shakoor Ba-Ali, Henrik Lund-Andersen
In recent years, chromatic pupillometry is used in humans to evaluate the activity of melanopsin expressing intrinsic photosensitive retinal ganglion cells (ipRGCs). Blue light is used to stimulate the ipRGCs and red light activates the rod/cone photoreceptors. The late re-dilation phase of pupillary light reflex is primarily driven by the ipRGCs. Optic neuropathies i.e. Leber hereditary optic neuropathy (LHON), autosomal dominant optic atrophy (ADOA), nonarteritic anterior ischemic optic neuropathy (NAION), glaucoma, optic neuritis and idiopathic intracranial hypertension (IIH) are among the diseases, which have been subject to pupillometric studies...
July 14, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28716282/serum-amyloid-p-component-a-novel-potential-player-in-vessel-degeneration-in-cadasil
#13
Akihito Nagatoshi, Mitsuharu Ueda, Akihiko Ueda, Masayoshi Tasaki, Yasuteru Inoue, Yihong Ma, Teruaki Masuda, Mayumi Mizukami, Sayaka Matsumoto, Takayuki Kosaka, Takayuki Kawano, Takaaki Ito, Yukio Ando
In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), granular osmiophilic material (GOM) may play some roles in inducing cerebrovascular events. To elucidate the pathogenesis of CADASIL, we used laser microdissection and liquid chromatography-tandem mass spectrometry to analyze cerebrovascular lesions of patients with CADASIL for GOM. The analyses detected serum amyloid P component (SAP), annexin A2, and periostin as the proteins with the largest increase in the samples, which also demonstrated NOTCH3...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28716055/temporal-and-geographical-external-validation-study-and-extension-of-the-mayo-clinic-prediction-model-to-predict-egfr-in-the-younger-population-of-swiss-adpkd-patients
#14
Laura Girardat-Rotar, Julia Braun, Milo A Puhan, Alison G Abraham, Andreas L Serra
BACKGROUND: Prediction models in autosomal dominant polycystic kidney disease (ADPKD) are useful in clinical settings to identify patients with greater risk of a rapid disease progression in whom a treatment may have more benefits than harms. Mayo Clinic investigators developed a risk prediction tool for ADPKD patients using a single kidney value. Our aim was to perform an independent geographical and temporal external validation as well as evaluate the potential for improving the predictive performance by including additional information on total kidney volume...
July 17, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28715844/effects-of-pathogenic-variations-in-the-human-rhodopsin-gene-hrho-on-the-predicted-accessibility-for-a-lead-candidate-ribozyme
#15
Beau R Froebel, Alexandria J Trujillo, Jack M Sullivan
Purpose: The mutation-independent strategy for hammerhead ribozyme (hhRz) or RNA interference (RNAi)-based gene therapeutics to treat autosomal dominant diseases is predicated on the hypothesis that a single therapeutic would equivalently suppress all/most of the diverse mutant mRNAs in patients with the disease phenotype. However, the hypothesis has not been formally tested. We address this through a comprehensive bioinformatics study of how mutations affect target mRNA structure accessibility for a single lead hhRz therapeutic (725GUC↓), designed against human rod rhodopsin mRNA (hRHO), for patients with hRHO mutations that cause autosomal dominant retinitis pigmentosa...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28715597/the-proposal-of-a-clinical-protocol-to-assess-central-and-peripheral-fatigue-in-myotonic-dystrophy-type-1
#16
S Baldanzi, G Ricci, M Bottari, L Chico, C Simoncini, G Siciliano
DM1 is an autosomal-dominant disorder characterized by muscle weakness, myotonia, and multisystemic involvement. According to current literature fatigue and daytime sleepiness are among the main symptoms of DM1. Oxidative stress has been proposed to be one of the pathogenic factors of fatigue consequent to DM1. In this study, we investigated the dimensions of experienced fatigue and  physiological fatigue in a sample of 26 DM1 patients (17 males, 9 females, mean age 41.6 years, SD±12.7); experienced fatigue has been studied through Fatigue Severity Scale (FSS), and physiological fatigue was measured through an intermittent incremental exercise of the forearm muscles using a myometer; oxidative stress balance markers trend during aerobic exercise test have been collected...
July 1, 2017: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/28715588/caucasian-families-exhibit-significant-linkage-of-myopia-to-chromosome-11p
#17
Anthony M Musolf, Claire L Simpson, Bilal A Moiz, Kyle A Long, Laura Portas, Federico Murgia, Elise B Ciner, Dwight Stambolian, Joan E Bailey-Wilson
Purpose: Myopia is a common visual disorder caused by eye overgrowth, resulting in blurry vision. It affects one in four Americans, and its prevalence is increasing. The genetic mechanisms that underpin myopia are not completely understood. Here, we use genotype data and linkage analyses to identify high-risk genetic loci that are significantly linked to myopia. Methods: Individuals from 56 Caucasian families with a history of myopia were genotyped on an exome-based array, and the single nucleotide polymorphism (SNP) data were merged with microsatellite genotype data...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28715425/elimination-of-huntingtin-in-the-adult-mouse-leads-to-progressive-behavioral-deficits-bilateral-thalamic-calcification-and-altered-brain-iron-homeostasis
#18
Paula Dietrich, Irudayam Maria Johnson, Shanta Alli, Ioannis Dragatsis
Huntington's Disease (HD) is an autosomal dominant progressive neurodegenerative disorder characterized by cognitive, behavioral and motor dysfunctions. HD is caused by a CAG repeat expansion in exon 1 of the HD gene that is translated into an expanded polyglutamine tract in the encoded protein, huntingtin (HTT). While the most significant neuropathology of HD occurs in the striatum, other brain regions are also affected and play an important role in HD pathology. To date there is no cure for HD, and recently strategies aiming at silencing HTT expression have been initiated as possible therapeutics for HD...
July 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28714645/-extra-renal-manifestations-of-the-autosomal-dominant-polycystic-kidney-disease
#19
Aurélie Butscher, Olivier Phan, Olivier Bonny
Extra-renal complications of autosomal dominant polycystic kidney disease (ADPKD) are often unrecognized. Liver cysts are usually benign, but may cause chronic pain, may interfere with nutrition and may necessitate partial liver resection or even liver transplant. Somatostatin analogs may be an alternative therapy. Cerebral aneurisms are rare, but devastating. They must be investigated in case of positive familial history. Cardiac valvulopathies will be searched for by echocardiography. Abdominal wall herniae are often identified during the physical exam in ADPKD patients...
February 22, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28714182/rare-coding-variants-in-mapk7-predispose-to-adolescent-idiopathic-scoliosis
#20
Wenjie Gao, Chong Chen, Taifeng Zhou, Shulan Yang, Bo Gao, Hang Zhou, Chengjie Lian, Zizhao Wu, Xianjian Qiu, Xiaoming Yang, Esam Alattar, Wentao Liu, Deying Su, Silong Sun, Yulan Chen, Kenneth M C Cheung, Youqiang Song, Keith K D Luk, Danny Chan, Pak Chung Sham, Chao Xing, Chiea Chuen Khor, Gabriel Liu, Junlin Yang, Yubin Deng, Dingjun Hao, Dongsheng Huang, Quan-Zhen Li, Caixia Xu, Peiqiang Su
Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder characterized by three-dimensional spinal curvatures, affecting 2-3% of school age children, yet the causes underlying AIS are not well understood. Here, we firstly conducted a whole-exome sequencing and linkage analysis on a three-generation Chinese family with autosomal dominant (AD) AIS, then performed targeted sequencing in a discovery cohort comprising 20 AD-AIS families and 86 simplex patients, and finally identified three disease-associated missense variants (c...
July 17, 2017: Human Mutation
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