83,524 results match your criteria Autosomal Recessive Polycystic Kidney Disease


Comparison of brain magnetic resonance imaging between myotonic dystrophy type 1 and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

PLoS One 2018 6;13(12):e0208620. Epub 2018 Dec 6.

Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.

Background: Anterior temporal lobe hyperintensities detected by brain MRI are a recognized imaging hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Because similar findings may be present in patients with myotonic dystrophy type 1 (DM1), the brain MRI in these two diseases is often misinterpreted. We compared the MRI findings between the two entities to examine whether they display distinctive characteristics. Read More

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December 2018
4 Reads

Advanced Paternal Age, Infertility, and Reproductive Risks: A Review of the Literature.

Prenat Diagn 2018 Dec 5. Epub 2018 Dec 5.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Maternal Fetal Medicine, Rutgers/Robert Wood Johnson Medical School, New Brunswick, NJ.

Advanced paternal age (APA) is associated with infertility and other reproductive risks. Studies looking at APA and outcomes have used different paternal age cut-offs, which has complicated systematic evaluations of reproductive risk associated with paternal aging. This review of the literature suggests that the impact of paternal aging on adverse reproductive outcomes is small, but significant. Read More

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December 2018

The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series.

Ophthalmol Ther 2018 Dec 5. Epub 2018 Dec 5.

Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Manchester, UK.

Introduction: Infantile nephropathic cystinosis (INC) is an autosomal recessive lysosomal disorder in which patients develop deposits of cystine crystals in their kidneys and corneas from a young age.

Methods: We conducted a retrospective analysis of children with INC seen by ophthalmologists at the Manchester Royal Eye Hospital between 2002 and 2018, to evaluate clinical findings, symptoms and treatment.

Results: Twenty-two children diagnosed with INC from age 0 (prenatally) to 11 years were assessed. Read More

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December 2018
2 Reads

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.

Front Cell Neurosci 2018 21;12:443. Epub 2018 Nov 21.

Ataxia Research Group, Division of Biosciences, Department of Life Sciences, College of Health and Life Sciences, Brunel University London, Uxbridge, United Kingdom.

Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochondrial dysfunction, oxidative stress, and cell death, with the main affected sites being the large sensory neurons of the dorsal root ganglia and the dentate nucleus of the cerebellum. The GAA repeat expansions may be pure (GAA) in sequence or may be interrupted with regions of non-GAA sequence. Read More

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November 2018

X-chromosome meiotic drive in Drosophila simulans: a QTL approach reveals the complex polygenic determinism of Paris drive suppression.

Heredity (Edinb) 2018 Dec 5. Epub 2018 Dec 5.

Evolution Génome Comportement et Ecologie, CNRS, IRD, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, 91190, Paris, France.

Meiotic drivers are selfish genetic elements that promote their own transmission into the gametes, which results in intragenomic conflicts. In the Paris sex-ratio system of Drosophila simulans, drivers located on the X chromosome prevent the segregation of the heterochromatic Y chromosome during meiosis II, and hence the production of Y-bearing sperm. The resulting sex-ratio bias strongly impacts population dynamics and evolution. Read More

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December 2018

Insights into GABAergic system alteration in Huntington's disease.

Open Biol 2018 Dec 5;8(12). Epub 2018 Dec 5.

PhD Program for Translational Medicine, China Medical University and Academia Sinica, Taiwan, Republic of China

Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disease that is characterized by a triad of motor, psychiatric and cognitive impairments. There is still no effective therapy to delay or halt the disease progress. The striatum and cortex are two particularly affected brain regions that exhibit dense reciprocal excitatory glutamate and inhibitory gamma-amino butyric acid (GABA) connections. Read More

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December 2018
2 Reads

Pulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog.

Acta Vet Scand 2018 Dec 5;60(1):78. Epub 2018 Dec 5.

Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3508 TD, Utrecht, The Netherlands.

Background: Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary arterial hypertension (PAH) in humans and can be classified in idiopathic, heritable, drug and radiation-induced, and associated with connective tissue disease or human immunodeficiency virus infection. Recently, biallelic mutations of the EIF2AK4 gene have been discovered as a cause for an autosomal recessive form of PVOD in humans. In dogs, PAH is poorly characterized and is generally considered to be idiopathic or secondary to (for example) congenital left-to right cardiovascular shunts or heartworm disease. Read More

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December 2018

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran.

J Audiol Otol 2018 Dec 7. Epub 2018 Dec 7.

Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.

Background And Objectives: : Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Read More

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December 2018

Germ cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency.

Mol Cell Endocrinol 2018 Nov 30. Epub 2018 Nov 30.

Division of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA; Department of Pharmacology, University of Michigan, Ann Arbor, MI, USA.

17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is an autosomal recessive disorder of male sex development that results in defective testosterone biosynthesis. Although mutations in the cognate HSD17B3 gene cause a spectrum of phenotypic manifestations, the majority of affected patients are genetic males having female external genitalia. Many cases do not present until puberty, at which time peripheral conversion of androgen precursors causes progressive virilization. Read More

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November 2018

Prenatal sonographic diagnosis of Harlequin ichthyosis.

J Clin Ultrasound 2018 Dec 3. Epub 2018 Dec 3.

Department of Obstetrics and Gynaecology, Centro Hospitalar São João, Porto, Portugal.

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the disease and describe its characteristic sonographic features. Read More

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December 2018

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Brain 2018 Nov 30. Epub 2018 Nov 30.

Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F-35000 Rennes, France.

Holoprosencephaly is a pathology of forebrain development characterized by high phenotypic heterogeneity. The disease presents with various clinical manifestations at the cerebral or facial levels. Several genes have been implicated in holoprosencephaly but its genetic basis remains unclear: different transmission patterns have been described including autosomal dominant, recessive and digenic inheritance. Read More

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November 2018

Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency.

Blood Coagul Fibrinolysis 2018 Nov 29. Epub 2018 Nov 29.

St. George's Haemophilia Centre, St. George's University Hospitals NHS Foundation Trust, London, UK.

: The objective was to examine the genotypic and phenotypic characteristics of individuals with hereditary factor X deficiency (FXD), a rare autosomal recessive bleeding disorder caused by mutations in the F10 gene located on chromosome 13q34-ter. To date, 149 F10 mutations have been identified as contributory to FXD. Three open-label phase 3 trials enrolled individuals with mild, moderate, or severe FXD. Read More

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November 2018

The Study of rs693 and rs515135 in APOB in People with Familial Hypercholestrolemia.

Cell J 2019 Apr 18;21(1):86-91. Epub 2018 Nov 18.

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. Electronic

Objective: APOB-related familial hypercholesterolemia (FH) is the most common hereditary hyperchlosterolemia with an autosomal dominant pattern. A number of APOB variants are the most important risk factors for hyperchlosterolemia. APOB is a large glycoprotein that plays an important role in the metabolism of lipoproteins in the human body. Read More

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A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.

Cell J 2019 Apr 18;21(1):70-77. Epub 2018 Nov 18.

Department of Pediatrics Cardiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic Address:

Objective: Tricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several overlapping signaling pathways including Ras/ ERK pathway. Read More

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Mutations in RELT Cause Autosomal Recessive Amelogenesis Imperfecta.

Clin Genet 2018 Dec 3. Epub 2018 Dec 3.

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA.

Amelogenesis imperfecta (AI) is a collection of isolated (non-syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor receptor superfamily (TNFRSF). RNAscope in situ hybridization of wild-type mouse molars and incisors demonstrated specific Relt mRNA expression by secretory stage ameloblasts and by odontoblasts. Read More

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December 2018
2 Reads

Finding a very rare mutation in non-Caucasian LCAT patients from Southwest Asia for the first time.

J Cell Biochem 2018 Dec 2. Epub 2018 Dec 2.

Genetic laboratory of Amirkola Children's Hospital, Babol University of Medical Sciences, Babol, Iran.

Introduction: Lecithin cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder occurred by different mutations in the LCAT gene that cause two extremely rare syndromes including familial LCAT deficiency (FLD) and fish-eye disease (FED). Unlike FED in FLD renal failure is the most important defect due to deposition of abnormal lipoproteins in the renal stroma. In this study, FLD patients from the North of Iran were investigated for mutations in the LCAT gene. Read More

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December 2018

microRNA-31 inhibition partially ameliorates the deficiency of bone marrow stromal cells from cleidocranial dysplasia.

J Cell Biochem 2018 Dec 3. Epub 2018 Dec 3.

Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, China.

Background: Cleidocranial dysplasia (CCD) in humans is an autosomal-dominant skeletal dysplasia caused by heterozygous mutations of the runt-related transcription factor 2 (RUNX2) and significantly increases the risk of osteoporosis. Increasing evidence demonstrates that the dysfunction of bone marrow stromal cells from CCD patients (BMSCs-CCD) contributes to the bone deficiency, but the characteristics of BMSCs-CCD and the mechanisms that underlie their properties remain undefined.

Methods: The clinical manifestations of three CCD patients were collected and the mutations of RUNX2 were analyzed. Read More

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December 2018

Altered levels of focal adhesion and extracellular matrix-receptor interacting proteins were identified in Hailey-Hailey disease by quantitative iTRAQ proteome analysis.

J Cell Biochem 2018 Dec 3. Epub 2018 Dec 3.

Department of Dermatology, The Second Hospital of Xi'an Jiaotong University, Xi'an, China.

Benign chronic familial pemphigus or Hailey-Hailey disease (HHD, OMIM 169600) is a rare, autosomal dominant blistering skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. To date, the proteomic changes in skin lesions from HHD patients has not been reported yet. In this study, a sample of skin lesions from HHD patients was collected for isobaric tags for relative and absolute quantitation to analyze proteome changes compared with unaffected individuals. Read More

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December 2018

Standardized biogeographic grouping system for annotating populations in pharmacogenetic research.

Clin Pharmacol Ther 2018 Dec 1. Epub 2018 Dec 1.

Department of Biomedical Data Science, Stanford University, Stanford, CA, 94305, USA.

The varying frequencies of pharmacogenetic alleles between populations have important implications for the impact of these alleles in different populations. Current population grouping methods to communicate these patterns are insufficient as they are inconsistent and fail to reflect the global distribution of genetic variability. To facilitate and standardize the reporting of variability in pharmacogenetic allele frequencies, we present seven geographically-defined groups: American, Central/South Asian, East Asian, European, Near Eastern, Oceanian, and Sub-Saharan African, and two admixed groups: African American/Afro-Caribbean and Latino. Read More

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December 2018
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Chronic granulamatous disease: two decades of experience from a pediatric immunology unit in a country with high rate of consangineous marriages.

Scand J Immunol 2018 Dec 1:e12737. Epub 2018 Dec 1.

Ege University, Faculty of Medicine, Department of Pediatric Immunology, Izmir, Turkey.

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to bacterial and fungal infections resulting from the inadequacy of phagocytic leukocytes to produce reactive oxygen radicals. CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB (OMIM #300481) gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA (OMIM #608508), NCF1 (OMIM #608512), NCF2 (OMIM #608515) and NCF4 (OMIM #601488) genes encoding p22(phox), p47(phox), p67(phox), and p40(phox), respectively. The genetic mutation of one of the cytosolic p47phox/p67phox proteins and membrane-bound gp91phox/p22phox proteins, which constitutes the NADPH oxidase enzyme complex, causes the disease. Read More

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December 2018

Prenatal Diagnosis of Tay-Sachs Disease.

Methods Mol Biol 2019 ;1885:233-250

Mount Sinai Genomics, Inc., DBA Sema 4, New York, NY, USA.

Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of G gangliosides. Infantile TSD is a devastating and fetal neurodegenerative disease with death before the age of 3-5 years. A small proportion of TSD patients carry milder mutations and may present juvenile or adult onset milder disease. Read More

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January 2019

Prenatal Diagnosis of Cystic Fibrosis.

Methods Mol Biol 2019 ;1885:221-231

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Cystic fibrosis (CF) is an inherited disease characterized by the accumulation of thick, sticky mucus which damages epithelia in organs such as the lungs, pancreas, liver, intestines, and other parts of the body. The most common symptoms are sinopulmonary disease and chronic gastrointestinal tract problems resulting from decreased mucociliary clearance and inflammation. CF is the most common life-limiting autosomal recessive disorder in people of northern European ancestry and it affects other populations with different prevalence. Read More

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January 2019
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Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.

Methods Mol Biol 2019 ;1885:139-160

Prenatal Centre, Ragnitz Hospital, Graz, Austria.

Autosomal chromosome aneuploid pregnancies that survive to term, namely, trisomies 13, 18, and 21, account for 89% of chromosome abnormalities with a severe phenotype identified in prenatal samples. They are traditionally detected by full karyotype analysis of cultured cells. The average reporting time for a prenatal karyotype analysis is approximately 14 days, and in recent years, there has been increasing demand for more rapid prenatal results with respect to the common chromosome aneuploidies, to relieve maternal anxiety and facilitate options in pregnancy. Read More

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January 2019

Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.

Authors:
Judy Savige

Pediatr Nephrol 2018 Nov 30. Epub 2018 Nov 30.

Department of Medicine, Melbourne Health and Northern Health, The University of Melbourne, Parkville, 3050, Australia.

The diagnosis of Alport syndrome is suspected when an individual has haematuria or renal failure, together with a hearing loss; haematuria or renal failure, and a family history of Alport syndrome; or a pathognomonic Alport feature, such as lenticonus, fleck retinopathy, a lamellated glomerular basement membrane (GBM), or a GBM that lacks the collagen IV α3α4α5 network. The diagnosis of Alport syndrome is optimally confirmed by the demonstration of a mutation in the COL4A5 gene or two mutations in trans in the COL4A3 or COL4A4 genes. In practice, genetic testing for Alport syndrome is not widely available, and even with testing, causative mutations are not demonstrated in 5% of cases. Read More

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November 2018

Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome.

Am J Ophthalmol Case Rep 2019 Mar 4;13:16-19. Epub 2018 Nov 4.

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.

Purpose: Chromosome 22q11.2 micro-duplication syndrome (MDS), is a rare autosomal dominant condition, with a highly variable phenotype that ranges from unremarkable and asymptomatic, to fatal due to cardiovascular defects. Hypertelorism, downslanting palpebral fissures, superior displacement of the eyebrows, and ptosis are the most commonly reported ocular manifestations. Read More

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Schopf-Schulz-Passarge Syndrome.

Indian Dermatol Online J 2018 Nov-Dec;9(6):448-451

Department of Dermatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.

Schopf-Schulz-Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas. A 36-year-old male presented with multiple eyelid and periocular apocrine hidrocystomas, ichthyosis, palmoplantar keratoderma, hypodontia, nail dystrophy, and thin scalp hair. Read More

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December 2018

Clinical Manifestation, Management and Prognosis of Acute Myocardial Infarction in Autosomal Dominant Polycystic Kidney Disease.

Kidney Blood Press Res 2018 Nov 30;43(6):1806-1812. Epub 2018 Nov 30.

Background/aims: Cardiovascular complications are the most common cause of death in individuals with autosomal dominant polycystic kidney disease (ADPKD), yet there is no substantial data concerning the clinical characteristics of acute myocardial infarction (AMI) in this population. This study thus aimed to investigate AMI in persons with ADPKD.

Methods: A retrospective analysis of ADPKD patients admitted to our hospital over a 13 year period was conducted. Read More

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November 2018

Chemotherapy in Patients with Hereditary Angioedema.

Anticancer Res 2018 Dec;38(12):6801-6807

Internal Medicine Department, Tor Vergata University Hospital, Medical Oncology Unit, Rome, Italy.

Background: Hereditary angioedema (HAE) is an autosomal dominant hereditary disorder characterized by episodic swelling of many body regions (especially throat and abdomen), potentially triggered by medication. No data are available for HAE in patients with cancer assigned to standard chemotherapy. The aim of our study was to identify circulating mediators potentially predictive of acute HAE attacks during chemotherapy. Read More

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December 2018
1 Read

Establishment of diagnostic facilities for autosomal recessive bleeding disorders in Pakistan.

Blood Adv 2018 Nov;2(Suppl 1):35-38

Department of Pathology and Clinical Hematology, National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, Pakistan.

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November 2018

Altered Hepatobiliary Disposition of Tolvaptan and Selected Tolvaptan Metabolites in a Rodent Model of Polycystic Kidney Disease.

Drug Metab Dispos 2018 Nov 30. Epub 2018 Nov 30.

UNC Eshelman School of Pharmacy;

Tolvaptan, a vasopressin V2-receptor antagonist, has demonstrated efficacy in slowing kidney function decline in patients with autosomal dominant polycystic kidney disease (ADPKD). In the pivotal clinical trial, the incidence of elevated liver enzymes was higher in patients receiving tolvaptan compared to placebo. Adjudication by a panel of expert hepatologists concluded a causal link of tolvaptan to liver injury in patients with ADPKD. Read More

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November 2018

Transient phenylketonuria in premature infants.

Nutrition 2018 Aug 20;59:180-181. Epub 2018 Aug 20.

Department of Pediatrics, Hospital Universitario Rio Hortega, Valladolid, Spain.

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (phe) metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase that converts phe into tyrosine. If left untreated, PKU results in increased phe concentrations in the blood and in the brain, which cause severe intellectual disability, epilepsy, and behavioral problems. These disorders can be prevented if a diet low in phe is introduced. Read More

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TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.

Eur J Med Genet 2018 Nov 29. Epub 2018 Nov 29.

Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.

Distal hereditary motor neuropathies (dHMNs) comprise a group of clinically and genetically heterogeneous inherited lower motor neuron syndromes mainly characterized by a distal-predominant pattern of progressive muscle atrophy, weakness and hyporeflexia, without sensory dysfunction. Although at least 21 causative genes for dHMN have been reported, mutational scanning of these genes often fails to identify the causative variants in dHMN cohorts, suggesting that additional causative genes remain to be identified. We studied a four-generation pedigree of a Japanese family with autosomal dominant dHMN to provide insight into the pathogenetic basis of the disease. Read More

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November 2018
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Population data of 23 autosomal STR loci in Hong Kong Chinese.

Forensic Sci Int Genet 2018 Nov 27. Epub 2018 Nov 27.

Forensic Science Division, Government Laboratory, Homantin Government Offices, Hong Kong, China.

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November 2018

Targeting the proteostasis network in Huntington's disease.

Ageing Res Rev 2018 Nov 28. Epub 2018 Nov 28.

REQUIMTE/LAQV, Department of Drug Sciences, Pharmacology Lab, Faculty of Pharmacy, University of Porto, 4050-313, Porto, Portugal; Consortium for Mitochondrial Research (CfMR), University College London, Gower Street, WC1E 6BT, London, UK. Electronic address:

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a polyglutamine expansion mutation in the huntingtin protein. Expansions above 40 polyglutamine repeats are invariably fatal, following a symptomatic period characterised by choreiform movements, behavioural abnormalities, and cognitive decline. While mutant huntingtin (mHtt) is widely expressed from early life, most patients with HD present in mid-adulthood, highlighting the role of ageing in disease pathogenesis. Read More

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November 2018

Medical management of haemorrhagic hereditary telangiectasia in adult patients.

Med Clin (Barc) 2018 Nov 27. Epub 2018 Nov 27.

Unidad de Telangiectasia Hemorrágica Hereditaria, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de LLobregat, Barcelona, España; Facultad de Medicina y Ciencias de la Salud, Universitat de Barcelona, Barcelona, España; Unidad de Hepatología y Trasplante hepático, Servicio de Aparato Digestivo, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de LLobregat, Barcelona, España.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited Rare Disease that causes a systemic anomalous vascular overgrowth. The approach and follow-up of these patients should be from multidisciplinary units. Its diagnosis is carried out according to Curaçao clinical Criteria. Read More

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November 2018

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.

J Clin Endocrinol Metab 2018 Dec 3. Epub 2018 Dec 3.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Context: Multiple autosomal recessive genes have been etiologically linked to Primary Adrenal Insufficiency (PAI). Recently, SGPL1 gene mutations were recognized as causes of steroid-resistant nephrotic syndrome type 14 (NPHS14), a sphingolipidosis with multisystemic manifestations including PAI. Interestingly, this is the only monogenetic form of nephrotic syndrome (NS) and the sole sphingolipidosis causing adrenal disease. Read More

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December 2018
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Infected cyst in patients with autosomal dominant polycystic kidney disease: Analysis of computed tomographic and ultrasonographic imaging features.

PLoS One 2018 5;13(12):e0207880. Epub 2018 Dec 5.

Department of Radiology, Seoul National University Hospital, Seoul, Korea.

Purpose: To investigate the imaging features of cyst infection in autosomal dominant polycystic kidney disease (ADPKD) patients using computed tomography (CT) and ultrasonography (US).

Materials & Methods: The institutional review board approved this retrospective study. Fifty-one episodes with proven cyst infection in forty-three ADPKD patients were included. Read More

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December 2018

A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis.

J Pediatr Endocrinol Metab 2018 Dec 5. Epub 2018 Dec 5.

Koc University School of Medicine, Istanbul, Turkey.

Background H syndrome ([OMIM] 602782) is an autosomal recessive disorder with systemic manifestations and characteristic skin lesions, caused by mutations of the SLC29A3 gene. Short stature and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature. Case presentation Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c. Read More

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December 2018
2 Reads

A new perspective in oculoplastic surgical management of symptomatic distichiasis in lymphedema-distichiasis syndrome.

Orbit 2018 Dec 5:1-4. Epub 2018 Dec 5.

a Department of Ophthalmology , University Hospital Nottingham NHS Trust , Nottingham , UK.

Lymphedema-distichiasis syndrome (LDS) is an autosomal dominant condition associated with FOXC2 mutations. Patients with distichiasis are mostly symptomatic, and efforts to deal with their ocular complaints comprise of electrolysis, cryotherapy and a variety of surgical techniques. We describe an enhanced surgical technique for a case of symptomatic distichiasis of the right eye with scarred, irregular eyelid margins secondary to initial cryotherapy, whereby the distorted tarsus was excised to remove the aberrant hair follicles, the levator palpebrae superioris was released to extend the upper lid and prevent lagophthalmos and a mucous membrane graft was used to cover the exposed portion of the tarsal plate. Read More

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December 2018
2 Reads

Alitretinoin for palmoplantar keratodermas: a novel case and review of the literature.

Dermatol Ther 2018 Dec 5:e12794. Epub 2018 Dec 5.

Department of Clinical, Experimental and Specialty Medicine, Division of Dermatology, University of Bologna, Italy.

Papillon-Lefèvre syndrome (PLS) is a rare, autosomal recessive disorder of keratinization, characterized by palmoplantar keratoderma (PPK) and severe chronic periodontitis which leads to an early loss of primary and permanent teeth. Oral retinoids, such as etretinate, isotretinoin and acitretin, represent the most important therapeutic options for keratoderma of PLS, with varying results in terms of efficacy. We report here the first case of 55-year-old woman diagnosed with PLS treated with alitretinoin. Read More

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December 2018
1 Read

The Combination of Metformin and 2-deoxyglucose Significantly Inhibits Cyst Formation in Miniature Pigs with Polycystic Kidney Disease.

Br J Pharmacol 2018 Dec 4. Epub 2018 Dec 4.

Department of Nephrology, Chinese PLA General Hospital, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing Key Laboratory of Kidney Diseases, Beijing, 100853, China.

Background And Purpose: The pathogenic mechanism of autosomal dominant polycystic kidney disease (ADPKD) is unclear. Similar to tumor cells, polycystic kidney cells are primarily dependent on aerobic glycolysis for ATP production. Compared with rodents, miniature pigs are more similar to humans. Read More

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December 2018

The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models.

Neurotox Res 2018 Dec 5. Epub 2018 Dec 5.

Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Departamento de Bioquímica, ICBS, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, RS, 90035-003, Brazil.

Sulfite oxidase (SO) deficiency is an autosomal recessive inherited neurometabolic disease caused by deficient activity of SO. It is biochemically characterized by tissue accumulation and high urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. Severe neurological symptoms, including neonatal seizures, encephalopathy, and psychomotor retardation, are commonly observed in the affected patients, but the pathogenesis of the neurologic dysfunction is still poorly understood. Read More

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December 2018

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

J Neurol 2018 Dec 4. Epub 2018 Dec 4.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.

Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy, and cognitive decline. We performed mutational screening in 80 patients with sporadic or autosomal recessive adult-onset ataxia. Read More

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December 2018
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Longitudinal association between astrocyte function and glucose metabolism in autosomal dominant Alzheimer's disease.

Eur J Nucl Med Mol Imaging 2018 Dec 4. Epub 2018 Dec 4.

Department of Neurobiology, Care Sciences and Society, Division of Clinical Geriatrics, Karolinska Institutet, 141 52, Stockholm, Sweden.

Purpose: The spatial resolution of F-fluorodeoxyglucose PET does not allow the specific cellular origin of its signal to be determined, but it is commonly accepted that transport and trapping of F-fluorodeoxyglucose reflects neuronal glucose metabolism. The main frameworks for the diagnosis of Alzheimer's disease suggest that hypometabolism measured with F-fluorodeoxyglucose PET is a biomarker of neuronal injury and neurodegeneration. There is preclinical evidence to suggest that astrocytes contribute, at least partially, to the in vivo F-fluorodeoxyglucose PET signal. Read More

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December 2018

Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.

Med Arch 2018 Oct;72(4):292-294

Second Department of Surgery, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Introduction: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS.

Case Report: We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn's disease. Read More

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October 2018
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An Infant With Neonatal Diabetes and Double Outlet Right Ventricle - Wolcott- Rallison syndrome.

Med Arch 2018 Oct;72(4):289-291

Institution for Emergency Medicine, Sarajevo, Bosnia and Herzegovina.

Introduction: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate. Read More

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October 2018
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Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.

J Hum Genet 2018 Dec 4. Epub 2018 Dec 4.

Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

Mutations in the CEACAM6 gene were first described as causing autosomal dominant nonsyndromic hearing loss, but two splice-altering variants have been recently described as causing autosomal recessive nonsyndromic hearing loss. We describe the novel and extremely rare loss-of-function variant c.436 C > T/p. Read More

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December 2018

Functional and behavioral consequences of Parkinson's disease-associated G2019S mutation.

Biochem Soc Trans 2018 Dec 4. Epub 2018 Dec 4.

Department of Neuroscience, Friedman Brain Institute, Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, 1470 Madison Avenue, New York, NY 10029, U.S.A.

mutation is the most common inherited, autosomal dominant cause of Parkinson's disease (PD) and has also been observed in sporadic cases. Most mutations result in increased LRRK2 kinase activity. LRRK2 is highly expressed in brain regions that receive dense, convergent innervation by dopaminergic and glutamatergic axons, and its levels rise developmentally coincident with glutamatergic synapse formation. Read More

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December 2018
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Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Mol Genet Metab 2018 Nov 28. Epub 2018 Nov 28.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

Porphyria Cutanea Tarda (PCT) is a cutaneous porphyria that results from the hepatic inhibition of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD), and can occur either in the absence or presence of an inherited heterozygous UROD mutation (PCT subtypes 1 and 2, respectively). A heterozygous UROD mutation causes half-normal levels of UROD activity systemically, which is a susceptibility factor but is not sufficient alone to cause type 2 PCT. In both Types 1 and 2 PCT, the cutaneous manifestations are precipitated by additional factors that lead to generation of an inhibitor that more profoundly reduces hepatic UROD activity. Read More

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November 2018