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https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#1
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28229372/measuring-inhibition-and-cognitive-flexibility-in-friedreich-ataxia
#2
Louise A Corben, Felicity Klopper, Monique Stagnitti, Nellie Georgiou-Karistianis, John L Bradshaw, Gary Rance, Martin B Delatycki
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with subtle impact on cognition. Inhibitory processes and cognitive flexibility were examined in FRDA by assessing the ability to suppress a predictable verbal response. We administered the Hayling Sentence Completion Test (HSCT), the Trail Making Test, and the Stroop Test to 43 individuals with FRDA and 42 gender- and age-matched control participants. There were no significant group differences in performance on the Stroop or Trail Making Test whereas significant impairment in cognitive flexibility including the ability to predict and inhibit a pre-potent response as measured in the HSCT was evident in individuals with FRDA...
February 22, 2017: Cerebellum
https://www.readbyqxmd.com/read/28229309/nusinersen-first-global-approval
#3
Sheridan M Hoy
Spinal muscular atrophy (SMA) is a rare autosomal recessive disorder characterized by muscle atrophy and weakness resulting from motor neuron degeneration in the spinal cord and brainstem. It is most commonly caused by insufficient levels of survival motor neuron (SMN) protein (which is critical for motor neuron maintenance) secondary to deletions or mutations in the SMN1 gene. Nusinersen (SPINRAZA™) is a modified antisense oligonucleotide that binds to a specific sequence in the intron, downstream of exon 7 on the pre-messenger ribonucleic acid (pre-mRNA) of the SMN2 gene...
February 22, 2017: Drugs
https://www.readbyqxmd.com/read/28228882/renal-lymphangiomatosis-a-rare-differential-diagnosis-for-autosomal-recessive-polycystic-kidney-disease-in-pediatric-patients
#4
Amna A Kashgari, Nabil Ozair, Amin Al Zahrani, Mohammed O Al Otibi, Khalid Al Fakeeh
Renal lymphangiomatosis is a rare, benign malformation, characterized by developmental malformation of the perirenal, peripelvic, and intrarenal lymphatics. Radiologist knowledge of the unique radiological features of this entity helps patient's safety in terms of management. We study the case of a 27-month-old boy presented to the emergency department with upper respiratory tract infection. He had a high blood pressure and had been diagnosed earlier with autosomal recessive polycystic kidney disease based on renal ultrasound findings...
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28228528/clinical-genetic-and-structural-basis-of-congenital-adrenal-hyperplasia-due-to-11%C3%AE-hydroxylase-deficiency
#5
Ahmed Khattab, Shozeb Haider, Ameet Kumar, Samarth Dhawan, Dauood Alam, Raquel Romero, James Burns, Di Li, Jessica Estatico, Simran Rahi, Saleel Fatima, Ali Alzahrani, Mona Hafez, Noha Musa, Maryam Razzghy Azar, Najoua Khaloul, Moez Gribaa, Ali Saad, Ilhem Ben Charfeddine, Berenice Bilharinho de Mendonça, Alicia Belgorosky, Katja Dumic, Miroslav Dumic, Javier Aisenberg, Nurgun Kandemir, Ayfer Alikasifoglu, Alev Ozon, Nazli Gonc, Tina Cheng, Ursula Kuhnle-Krahl, Marco Cappa, Paul-Martin Holterhus, Munier A Nour, Daniele Pacaud, Assaf Holtzman, Sun Li, Mone Zaidi, Tony Yuen, Maria I New
Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive...
February 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#6
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28222949/rare-bleeding-disorders-old-diseases-in-the-era-of-novel-options-for-therapy
#7
Tami Livnat, Assaf Arie Barg, Sarina Levy-Mendelovich, Gili Kenet
Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of less than one per 2000 according to the European Union or one per 1250 according to the USA. Congenital rare bleeding disorders RBD are reported in most populations, with incidence varying from 1 in 5000 (Hemophilia A), 1:30,000 (Hemophilia B) to much rarer (1:500,000 for FVII deficiency, 1-3 million for Prothrombin or FXIII deficiency). Acquired Hemophilia A is also a rare bleeding disorder with estimated frequency of 1 in million...
February 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28222800/exome-sequencing-identifies-slc26a4-gjb2-scarb2-and-duox2-mutations-in-2-siblings-with-pendred-syndrome-in-a-malaysian-family
#8
Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal
BACKGROUND: Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS: Whole exome sequencing was performed on 2 sisters with PDS and their unaffected parents. Our results showed that both sisters inherited monoallelic mutations in the 2 known PDS genes, SLC26A4 (ENST00000265715:c...
February 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28222799/assessment-of-plasma-chitotriosidase-activity-ccl18-parc-concentration-and-np-c-suspicion-index-in-the-diagnosis-of-niemann-pick-disease-type-c-a-prospective-observational-study
#9
Isabel De Castro-Orós, Pilar Irún, Jorge Javier Cebolla, Victor Rodriguez-Sureda, Miguel Mallén, María Jesús Pueyo, Pilar Mozas, Carmen Dominguez, Miguel Pocoví
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C...
February 21, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28222786/post-translational-modification-of-parkin
#10
REVIEW
Joy Chakraborty, Valentina Basso, Elena Ziviani
: Mutations in the gene encoding for the E3 ubiquitin ligase Parkin are associated to a rare form of familiar autosomal recessive Parkinsonism. Despite decades of research on the Parkin protein, whose structure has been recently solved, little is known about the specific signalling pathways that lead to Parkin activation. Parkin activity spans from mitochondria quality control to tumor suppression and stress protection; it is thus tempting to hypothesize that the broad impact of Parkin on cellular physiology might be the result of different post translational modifications that can be controlled by balanced opposing events...
February 21, 2017: Biology Direct
https://www.readbyqxmd.com/read/28222205/complex-cystine-kidney-stones-treated-with-combined-robot-assisted-laparoscopic-pyelolithotomy-and-intraoperative-renoscopy
#11
Luca Meggiato, Francesco Cattaneo, Fabio Zattoni, Fabrizio Dal Moro, Paolo Beltrami, Filiberto Zattoni
INTRODUCTION: Cystinuria, a rare autosomal recessive disease characterized by a defect in cystine renal reabsorption, can often determine complex cystine renal calculi, leading to important complications such as urinary obstruction, urinary infections, and impaired kidney function. Complex kidney stones can have a difficult management and can be very arduous to treat. CASE DESCRIPTION: We present the case of a 20-year-old Jeowah's witness woman with complex cystine renal stones treated with combined robot-assisted laparoscopic pyelolithotomy and intraoperative renoscopy...
February 18, 2017: Urologia
https://www.readbyqxmd.com/read/28222102/anln-truncation-causes-a-familial-fatal-acute-respiratory-distress-syndrome-in-dalmatian-dogs
#12
Saila Holopainen, Marjo K Hytönen, Pernilla Syrjä, Meharji Arumilli, Anna-Kaisa Järvinen, Minna Rajamäki, Hannes Lohi
Acute respiratory distress syndrome (ARDS) is the leading cause of death in critical care medicine. The syndrome is typified by an exaggerated inflammatory response within the lungs. ARDS has been reported in many species, including dogs. We have previously reported a fatal familial juvenile respiratory disease accompanied by occasional unilateral renal aplasia and hydrocephalus, in Dalmatian dogs. The condition with a suggested recessive mode of inheritance resembles acute exacerbation of usual interstitial pneumonia in man...
February 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28220405/altered-cellular-homeostasis-in-murine-mps-i-fibroblasts-evidence-of-cell-specific-physiopathology
#13
Gustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, Vânia D'Almeida
Mucopolysaccharidosis type I (MPS I), a rare autosomal recessive disease, is caused by a deficiency of the lysosomal enzyme alfa-L-iduronidase. Impaired enzyme activity promotes glycosaminoglycans accumulation in several tissues and organs, leading to complex multisystemic complications. Several studies using animal models indicated different intracellular pathways involving MPS I physiopathology; however, the exact mechanisms underlying this syndrome are still not understood. Previous results from our group showed alterations in ionic homeostasis and cell viability of splenocytes and macrophages in Idua-/- mice...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28218669/a-review-of-gaucher-disease-pathophysiology-clinical-presentation-and-treatments
#14
REVIEW
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, Christine Serratrice, Roseline Froissart, Catherine Caillaud, Thierry Levade, Leonardo Astudillo, Jacques Serratrice, Anaïs Brassier, Christian Rose, Thierry Billette de Villemeur, Marc G Berger
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells...
February 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28217872/craniosynostosis-delayed-closure-of-the-fontanelle-anal-genitourinary-and-skin-abnormalities-cdags-syndrome-first-report-in-a-mexican-patient-and-review-of-the-literature
#15
Rodrigo Pastrana-Ayala, Gretty L Peña-Castro, Adriana M Valencia-Herrera, Carlos A Mena-Cedillos, Sonia Toussaint-Caire, Yumiko I Akaki-Carreño, Constanza García-Delgado, Veronica F Morán-Barroso, Mirna Toledo-Bahena
INTRODUCTION: Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far. CASE REPORT: The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping the second...
February 19, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28215760/two-novel-cases-of-compound-heterozygous-mutations-in-mitofusin2-finding-out-the-inheritance
#16
Alessandro Geroldi, Patrizia Lastella, Margherita Patruno, Fabio Gotta, Nicoletta Resta, Grazia Devigili, Carlo Sabbà, Rossella Gulli, Merit Lamp, Paola Origone, Paola Mandich, Emilia Bellone
MFN2 is the major gene involved in the axonal form of Charcot-Marie-Tooth disease. It usually has an autosomal dominant pattern of inheritance, but a few cases of homozygous or compound heterozygous mutations have been described. These patients usually present an earlier onset, more severe phenotype and their inheritance pattern can span from autosomal recessive to semidominant. Here we report two unrelated patients carrying two compound heterozygous MFN2 mutations. Both present a pure axonal neuropathy without any additional features...
January 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28215579/mitochondrial-dna-maintenance-defects
#17
REVIEW
Ayman W El-Hattab, William J Craigen, Fernando Scaglia
The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-encoded proteins including a battery of enzymes forming the replisome needed to synthesize mtDNA. These enzymes need to be in balanced quantities to function properly that is in part achieved by exchanging intramitochondrial contents through mitochondrial fusion. In addition, mtDNA synthesis requires a balanced supply of nucleotides that is achieved by nucleotide recycling inside the mitochondria and import from the cytosol. Mitochondrial DNA maintenance defects (MDMDs) are a group of diseases caused by pathogenic variants in the nuclear genes involved in mtDNA maintenance resulting in impaired mtDNA synthesis leading to quantitative (mtDNA depletion) and qualitative (multiple mtDNA deletions) defects in mtDNA...
February 16, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28214532/smn1-functions-as-a-novel-inhibitor-for-traf6-mediated-nf-%C3%AE%C2%BAb-signaling
#18
Eun Kyung Kim, Eui-Ju Choi
Survival motor neuron (SMN) is a 38-kDa protein, whose deficiency in humans develops spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disease with muscular atrophy due to motor neuron death in the spinal cord. We now report that SMN prevents the activation of TRAF6 and IκB kinase (IKK) and thereby negatively regulates the NF-κB signaling processes. SMN physically interacted with TRAF6 and with each component of the IKK complex, IKK-α, IKK-β, and IKK-γ in BV2 microglia cells. Moreover, SMN1 inhibited the E3 ubiquitin ligase activity of TRAF6 as well as the kinase activity of IKK...
February 15, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28213897/laryngo-onycho-cutaneous-like-syndrome-due-to-mutated-plectin
#19
Christine Prodinger, Alfred Klausegger, Anja Diem, Johann W Bauer, Martin Laimer
Laryngo-onycho-cutaneous syndrome (LOC) is a rare autosomal recessive genodermatosis that has been mainly described in the offspring of consanguineous families with origin in the Punjabi region of Pakistan and India [1]. Founder mutations affecting the LAMA3A gene on chromosome 18q11.2 have been implicated to underlie this syndrome [1,2]. Based on its molecular and clinical features, LOC was recently classified as a subtype of junctional Epidermolysis bullosa (JEB) [1]. This article is protected by copyright...
February 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28210295/global-impact-of-bronchiectasis-and-cystic-fibrosis
#20
REVIEW
Margarida Redondo, Holly Keyt, Raja Dhar, James D Chalmers
EDUCATIONAL AIMS: To recognise the clinical and radiological presentation of the spectrum of diseases associated with bronchiectasis.To understand variation in the aetiology, microbiology and burden of bronchiectasis and cystic fibrosis across different global healthcare systems. : Bronchiectasis is the term used to refer to dilatation of the bronchi that is usually permanent and is associated with a clinical syndrome of cough, sputum production and recurrent respiratory infections...
September 2016: Breathe
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