keyword
MENU ▼
Read by QxMD icon Read
search

Rare disorders

keyword
https://www.readbyqxmd.com/read/28549061/central-hypothyroidism-a-neglected-thyroid-disorder
#1
REVIEW
Paolo Beck-Peccoz, Giulia Rodari, Claudia Giavoli, Andrea Lania
Central hypothyroidism is a rare and heterogeneous disorder that is characterized by a defect in thyroid hormone secretion in an otherwise normal thyroid gland due to insufficient stimulation by TSH. The disease results from the abnormal function of the pituitary gland, the hypothalamus, or both. Moreover, central hypothyroidism can be isolated or combined with other pituitary hormone deficiencies, which are mostly acquired and are rarely congenital. The clinical manifestations of central hypothyroidism are usually milder than those observed in primary hypothyroidism...
May 26, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28548504/theory-of-magnetic-ordering-in-the-heavy-rare-earths-ab%C3%A2-initio-electronic-origin-of-pair-and-four-spin-interactions
#2
Eduardo Mendive-Tapia, Julie B Staunton
We describe a disordered local moment theory for long-period magnetic phases and investigate the temperature and magnetic field dependence of the magnetic states in the heavy rare earth elements (HREs), namely, paramagnetic, conical and helical antiferromagnetic (HAFM), fan, and ferromagnetic (FM) states. We obtain a generic HRE magnetic phase diagram which is consequent on the response of the common HRE valence electronic structure to f-electron magnetic moment ordering. The theory directly links the first-order HAFM-FM transition to the loss of Fermi surface nesting, induced by this magnetic ordering, as well as provides a template for analyzing the other phases and exposing where f-electron correlation effects are particularly intricate...
May 12, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28547134/clinical-radiographic-and-biochemical-characteristics-of-adult-hypophosphatasia
#3
T Schmidt, H Mussawy, T Rolvien, T Hawellek, J Hubert, W Rüther, M Amling, F Barvencik
In this study, we report on clinical, radiographic and biochemical characteristics of 38 patients with adult hypophosphatasia. High-resolution peripheral quantitative computed tomography showed alterations of bone microstructure in a subgroup of 14 patients. Pyridoxal-5-phosphate levels correlated with the occurrence of fractures and the number of symptoms. INTRODUCTION: Hypophosphatasia (HPP) is a rare disorder with a wide range of clinical manifestations. A reduced enzymatic activity of alkaline phosphatase (ALP) is the key marker of the disease, causing an accumulation of ALP substrates such as pyridoxal-5-phosphate (PLP)...
May 25, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28546996/a-mutation-creating-an-upstream-initiation-codon-in-the-sox9-5-utr-causes-acampomelic-campomelic-dysplasia
#4
Anna E von Bohlen, Johann Böhm, Ramona Pop, Diana S Johnson, John Tolmie, Ralf Stücker, Deborah Morris-Rosendahl, Gerd Scherer
BACKGROUND: Campomelic dysplasia (CD) is a semilethal developmental disorder caused by mutations in and around SOX9. CD is characterized by multiple skeletal malformations including bending (campomelia) of long bones. Surviving patients frequently have the acampomelic form of CD (ACD). METHODS: This is a single case report on a patient with clinical and radiological features of ACD who has no mutation in the SOX9 protein-coding sequence nor a translocation with breakpoint in the SOX9 regulatory domain...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546991/structural-modeling-of-a-novel-slc38a8-mutation-that-causes-foveal-hypoplasia
#5
Marcus A Toral, Gabriel Velez, Katherine Boudreault, Kellie A Schaefer, Yu Xu, Norman Saffra, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT-angiography to improve the precision of FH diagnosis...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546572/corrigendum-mutations-in-the-histone-methyltransferase-gene-kmt2b-cause-complex-early-onset-dystonia
#6
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
No abstract text is available yet for this article.
May 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28546535/a-novel-prkag2-mutation-in-a-chinese-family-with-cardiac-hypertrophy-and-ventricular-pre-excitation
#7
Kun-Qi Yang, Chao-Xia Lu, Ying Zhang, Yan-Kun Yang, Jia-Cheng Li, Tian Lan, Xu Meng, Peng Fan, Tao Tian, Lin-Ping Wang, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou
PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This study investigated the genetic defect in a three-generation Chinese family with cardiac hypertrophy and ventricular pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L), was identified in PRKAG2...
May 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28545928/sitosterolemia-a-multifaceted-metabolic-disorder-with-important-clinical-consequences
#8
Eleftheria Tzavella, Eleftheria Hatzimichael, Christina Kostara, Eleni Bairaktari, Moses Elisaf, Vasilis Tsimihodimos
Sitosterolemia is a metabolic disorder characterized by increased intestinal absorption and tissue accumulation of phytosterols. Although sitosterolemia is considered a rare disease, its prevalence may be significantly higher than initially thought. Indeed, accumulating evidence suggests that patients with unexplained hematologic abnormalities or premature cardiovascular disease in the absence of classic risk factors may exhibit disordered phytosterol metabolism. In this review, we present a patient with sitosterolemia, describe the pathophysiology and the clinical picture of this disorder, and discuss the clinical value of phytosterol supplementation in patients with primary dyslipidemias...
April 30, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28545862/a-novel-pathogenic-variant-in-the-fzd6-gene-causes-recessive-nail-dysplasia-in-a-large-iranian-kindred
#9
Javad Mohammadi-Asl, Mohammad Reza Pourreza, Aliasgar Mohammadi, Ameneh Eskandari, Sima Mozafar-Jalali, Mohammad Amin Tabatabaiefar
BACKGROUND: Nail disorder nonsyndromic congenital (NDNC) is a very rare clinically and genetically heterogeneous disease inherited both in recessive or dominant modes. FZD6 is a component of Wnt-FZD signaling pathway in which recessive loss-of-function variants in the corresponding genes could lead to nail anomalies. OBJECTIVE: A large multiplex family with NDNC was referred for genetic counselling. Thorough genetic evaluation was performed. METHODS: PCR-Sanger sequencing was carried out for the coding exons and exon-intron boundaries of the FZD6 gene...
May 13, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28545554/whipple-s-disease-mimicking-rheumatoid-arthritis-can-cause-misdiagnosis-and-treatment-failure
#10
Cornelia Glaser, Siegbert Rieg, Thorsten Wiech, Christine Scholz, Dominique Endres, Oliver Stich, Peter Hasselblatt, Walter Geißdörfer, Christian Bogdan, Annerose Serr, Georg Häcker, Reinhard E Voll, Jens Thiel, Nils Venhoff
BACKGROUND: Whipple's disease, a rare chronic infectious disorder caused by Tropheryma whipplei, may present with predominant joint manifestations mimicking rheumatoid arthritis (RA). METHODS: A retrospective single-center cohort study of seven patients was performed. Clinical symptoms were assessed by review of medical charts and Whipple's disease was diagnosed by periodic-acid-Schiff-stain and/or Tropheryma whipplei-specific polymerase-chain-reaction. RESULTS: Median age at disease onset was 54 years, six patients were male...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28545360/melatonin-effects-in-rem-sleep-behavior-disorder-associated-with-obstructive-sleep-apnea-syndrome-a-case-series
#11
Carolin Schaefer, Dieter Kunz, Frederik Bes
OBJECTIVES: REM sleep behavior disorder (RBD), with its main clinical symptoms of nightmares with dream-enacting behavior, is considered as a possible precursor of neurodegenerative disease. Obstructive Sleep Apnea Syndrome (OSAS) is known to be capable of provoking RBD-like symptoms by apneic event related arousals. The two sleep related pathologies must coincide in a relevant number of individuals because of overlapping prevalence in similar age groups. Until now RBD symptoms coexisting with OSAS are rarely described in scientific literature and in fact considered as OSAS mimicking RBD...
May 22, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28544889/juvenile-myoclonic-epilepsy-as-a-spectrum-disorder-a-focused-review
#12
REVIEW
Betül Baykan, Peter Wolf
In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, myoclonic, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype...
May 18, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28544625/a-mutation-in-gabrb3-associated-with-dravet-syndrome
#13
Sy Vinh Le, Phan Hoang Truc Le, Thi Khanh Van Le, Thi Thuy Kieu Huynh, Thi Thu Hang Do
Dravet syndrome is a rare and severe type of epilepsy in infants. Approximately, 70-80% of patients with Dravet syndrome have mutations in SCN1A, the gene encoding the alpha-1 subunit of the sodium channel, while some simplex patients have variants in one of several other genes, including but not limited to GABRA1, SCN2A, STXBP1, GABRG2, and SCN1B. In this study, we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to identify other genes related to this disorder. In one affected individual, we detected a novel de novo heterozygous missense variant, c...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544481/matching-phenotypes-to-whole-genomes-lessons-learned-from-four-iterations-of-the-personal-genome-project-community-challenges
#14
Binghuang Cai, Biao Li, Nikki Kiga, Janita Thusberg, Timothy Bergquist, Yun-Ching Chen, Noushin Niknafs, Hannah Carter, Collin Tokheim, Violeta Beleva-Guthrie, Christopher Douville, Rohit Bhattacharya, Hui Ting Grace Yeo, Jean Fan, Sohini Sengupta, Dewey Kim, Melissa Cline, Tychele Turner, Mark Diekhans, Jan Zaucha, Lipika R Pal, Chen Cao, Chen-Hsin Yu, Yizhou Yin, Marco Carraro, Manuel Giollo, Carlo Ferrari, Emanuela Leonardi, Silvio C E Tosatto, Jason Bobe, Madeleine Ball, Roger Hoskins, Susanna Repo, George Church, Steven E Brenner, John Moult, Julian Gough, Mario Stanke, Rachel Karchin, Sean D Mooney
The advent of next generation sequencing has dramatically decreased the cost for whole genome sequencing and increased the viability for its application in research and clinical care. The Personal Genome Project (PGP) provides unrestricted access to genomes of individuals and their associated phenotypes. This resource enabled the Critical Assessment of Genome Interpretation (CAGI) to create a community challenge to assess the bioinformatics community's ability to predict traits from whole genomes. In CAGI PGP challenge, researchers were asked to predict whether an individual had a particular trait or profile based on their whole genome...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#15
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28543434/metastatic-squamous-cell-carcinoma-in-a-patient-with-disabling-pansclerotic-morphea-of-childhood
#16
Juan M Ruiz-Matta, Luis R Flores-Bozo, Judith Dominguez-Cherit
Disabling pansclerotic morphea of childhood (DPMC) is a rare disorder that confers a risk of developing ulcer-related squamous cell carcinoma (SCC). We describe a young man with long-standing DPMC and SCC with lung metastasis.
May 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28543379/idiopathic-lymphoplasmacellular-mucositis-of-the-lips-a-case-report-and-review-of-the-literature
#17
Ren-Feng Liu, Chun-Bing Chen, Tseng-Tong Kuo, Wen-Hung Chung
Idiopathic lymphoplasmacellular mucositis (ILPM) is a group of disorders histologically characterized by dense infiltrates of lymphocytes and plasma cells in submucosa. These lesions are initially observed on the glans penis and vulva, and later on buccal mucosa, lips, gingiva, tongue, epiglottis, larynx, and other mucosal surfaces have also been reported. We have reviewed the previously reported cases of ILPM with lip involvement, outlining the clinical presentation, treatment and outcome of the entity to date...
May 23, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28543045/colonic-or-ileocecocolic-volvulus-in-13-dogs-2005-2016
#18
Tanja Plavec, Stefan Rupp, Martin Kessler
OBJECTIVE: To describe the clinical and clinicopathological features of colonic or ileocecocolic volvulus (CV/ICV) in dogs. STUDY DESIGN: Retrospective case series. ANIMALS: Thirteen dogs with surgically confirmed CV/ICV. METHODS: Medical records were reviewed for signalment, medical history, clinical signs, laboratory data, radiographic findings, treatment, and outcome. RESULTS: All cases consisted of large-breed dogs (median weight 37...
May 20, 2017: Veterinary Surgery: VS
https://www.readbyqxmd.com/read/28542792/on-the-complexity-of-clinical-and-molecular-bases-of-neurodegeneration-with-brain-iron-accumulation
#19
REVIEW
Cristina Tello, Alejandra Darling, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós
Neurodegeneration with brain iron accumulation (NBIA) are a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with dystonia, spasticity, parkinsonism and neuropsychiatric disturbances, along with brain MRI evidence of iron accumulation. In sum, they are devastating disorders and to date, there is no specific treatment. Ten NBIA genes are accepted: PANK2, PLA2G6, C19orf12, COASY, FA2H, ATP13A2, WDR45, FTL, CP, and DCAF17, and. Nonetheless, a relevant percentage of patients remain without genetic diagnosis, suggesting that other novel NBIA genes remain to be discovered...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542306/gene-signature-associated-with-benign-neurofibroma-transformation-to-malignant-peripheral-nerve-sheath-tumors
#20
Marta Martínez, Carlos O S Sorzano, Alberto Pascual-Montano, Jose M Carazo
Benign neurofibromas, the main phenotypic manifestations of the rare neurological disorder neurofibromatosis type 1, degenerate to malignant tumors associated to poor prognosis in about 10% of patients. Despite efforts in the field of (epi)genomics, the lack of prognostic biomarkers with which to predict disease evolution frustrates the adoption of appropriate early therapeutic measures. To identify potential biomarkers of malignant neurofibroma transformation, we integrated four human experimental studies and one for mouse, using a gene score-based meta-analysis method, from which we obtained a score-ranked signature of 579 genes...
2017: PloS One
keyword
keyword
61500
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"