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https://www.readbyqxmd.com/read/29145277/tricho-hepato-enteric-syndrome-with-novel-skiv2l-gene-mutations-a-case-report
#1
Eitaro Hiejima, Takahiro Yasumi, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Ikuo Okafuji, Tohru Yorifuji, Takayuki Tanaka, Kazushi Izawa, Tomoki Kawai, Ryuta Nishikomori, Toshio Heike
RATIONALE: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS: The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29144824/17%C3%AE-hydroxylase-deficiency-is-an-underdiagnosed-disease-high-frequency-of-misdiagnoses-in-a-large-cohort-of-brazilian-patients
#2
Rafaela Fontenele, Marivânia Costa-Santos, Claudio E Kater
OBJECTIVE: 17α-Hydroxylase deficiency (P450c17D) is characterized by hypogonadism and mineralocorticoid hypertension. We aimed to estimate the relative incidence and spectrum of preliminary misdiagnoses in Brazilian P450c17D patients. DESIGN: Cross-sectional study. METHODS: We reviewed, updated, and analyzed data of 40 P450c17D patients (21 XY, 19 XX). RESULTS: Complete data were unavailable for two patients. Seven patients were relatives of an index case...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29143887/diagnosis-and-treatment-of-aplastic-anemia
#3
REVIEW
Scott A Peslak, Timothy Olson, Daria V Babushok
Acquired aplastic anemia (AA) is a rare, life-threatening bone marrow failure (BMF) disorder that affects patients of all ages and is caused by lymphocyte destruction of early hematopoietic cells. Diagnosis of AA requires a comprehensive approach with prompt evaluation for inherited and secondary causes of bone marrow aplasia, while providing aggressive supportive care. The choice of frontline therapy is determined by a number of factors including AA severity, age of the patient, donor availability, and access to optimal therapies...
November 16, 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/29143539/psychiatric-care-of-children-with-autism-spectrum-disorder-what-do-their-siblings-think-about-it-a-qualitative-study
#4
Jordan Sibeoni, Louise Chambon, Noel Pommepuy, Clementine Rappaport, Anne Revah-Levy
The expectations and role of families in the care of children with autism spectrum disorder are increasingly important. Nonetheless, no study has thus far explored the perspectives of siblings about the care received by a brother or sister with this disorder. The objective of this study was to fill this gap in the literature. This multicentre qualitative study took place in France, where we conducted semi-structured interviews with adolescents who were older siblings of children receiving care in a day hospital for an autism spectrum disorder...
November 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29143457/microhaplotypes-provide-increased-power-from-short-read-dna-sequences-for-relationship-inference
#5
Diana S Baetscher, Anthony J Clemento, Thomas C Ng, Eric C Anderson, John Carlos Garza
The accelerating rate at which DNA sequence data is now generated by high-throughput sequencing instruments provides both opportunities and challenges for population genetic and ecological investigations of animals and plants. We show here how the common practice of calling genotypes from a single SNP per sequenced region ignores substantial additional information in the phased short-read sequences that are provided by these sequencing instruments. We target sequenced regions with multiple SNPs in kelp rockfish (Sebastes atrovirens) to determine "microhaplotypes" and then call these microhaplotypes as alleles at each locus...
November 16, 2017: Molecular Ecology Resources
https://www.readbyqxmd.com/read/29143444/the-subversion-of-mill-and-the-ultimate-aim-of-nursing
#6
Paul C Snelling
This is lightly edited and referenced version of a presentation given at the 20th International Philosophy of Nursing conference in Quebec on 23rd August 2016. Philosophical texts are not given the same prominence in nurse education as their more valued younger sibling, primary research evidence, but they can influence practice through guidelines, codes and espoused values. John Stuart Mill's harm principle, found in On Liberty, is not a universal law, and only a thoroughgoing libertarian would defend it as such, though it, or its remnants, can be seen can be seen in policy documents...
November 15, 2017: Nursing Philosophy: An International Journal for Healthcare Professionals
https://www.readbyqxmd.com/read/29143313/polyglucosan-myopathy-and-functional-characterization-of-a-novel-gyg1-mutation
#7
C Hedberg-Oldfors, A Mensch, K Visuttijai, G Stoltenburg, D Stoevesandt, T Kraya, A Oldfors, S Zierz
OBJECTIVES: Disorders of glycogen metabolism include rare hereditary muscle glycogen storage diseases with polyglucosan, which are characterized by storage of abnormally structured glycogen in muscle in addition to exercise intolerance or muscle weakness. In this study, we investigated the etiology and pathogenesis of a late-onset myopathy associated with glycogenin-1 deficiency. MATERIALS AND METHODS: A family with two affected siblings, 64- and 66-year-olds, was studied...
November 15, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29143281/long-term-outcome-in-patients-treated-at-home-during-the-pancytopenic-phase-after-allogeneic-haematopoietic-stem-cell-transplantation
#8
Olle Ringdén, Behnam Sadeghi, Gianluca Moretti, Sigrun Finnbogadottir, Brita Eriksson, Jonas Mattsson, Britt-Marie Svahn, Mats Remberger
Patients undergoing allogeneic haematopoietic stem cell transplantation (HSCT) were given the option to be treated at home during the pancytopenic phase. Daily visits by a nurse and phone calls from a physician from the unit were part of the protocol. During almost two decades, 252 patients with haematological malignancies and non-malignant disorders were included. Median age was 47 (range 0-72) years. Myeloablative conditioning was given to 102 patients and reduced intensity to 150. Donors were matched unrelated (n = 160), HLA-identical siblings (n = 71), or HLA-mismatched (n = 21)...
November 15, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/29142767/could-congenital-insensitivity-to-pain-with-anhidrosis-be-misdiagnosed-as-papillon-lef%C3%A3-vre-syndrome
#9
Mostafa Ibrahim Mostafa, Maha Rashed Abouzaid, Manal Micheal Thomas, Ghada Yousef El-Kamah
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142307/genetic-polymorphism-related-to-monocyte-macrophage-function-is-associated-with-graft-versus-host-disease
#10
Kati Hyvärinen, Jarmo Ritari, Satu Koskela, Riitta Niittyvuopio, Anne Nihtinen, Liisa Volin, David Gallardo, Jukka Partanen
Despite detailed human leukocyte antigen (HLA) matching and modern immunosuppressive therapy, severe graft-versus-host disease (GvHD) remains a major hurdle for successful allogeneic hematopoietic stem cell transplantation (HSCT). As the genetic diversity in GvHD complicates the systematic discovery of associated variants across populations, we studied 122 GvHD-associated single nucleotide polymorphisms (SNPs) in 492 HLA-matched sibling HSCT donor-recipient pairs from Finland and Spain. The association between these candidate SNPs and grade III-IV acute GvHD and extensive chronic GvHD was assessed...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#11
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141084/association-of-obsessive-compulsive-disorder-with-objective-indicators-of-educational-attainment-a-nationwide-register-based-sibling-control-study
#12
Ana Pérez-Vigil, Lorena Fernández de la Cruz, Gustaf Brander, Kayoko Isomura, Andreas Jangmo, Inna Feldman, Eva Hesselmark, Eva Serlachius, Luisa Lázaro, Christian Rück, Ralf Kuja-Halkola, Brian M D'Onofrio, Henrik Larsson, David Mataix-Cols
Importance: To our knowledge, the association of obsessive-compulsive disorder (OCD) and academic performance has not been objectively quantified. Objective: To investigate the association of OCD with objectively measured educational outcomes in a nationwide cohort, adjusting for covariates and unmeasured factors shared between siblings. Design, Setting, And Participants: This population-based birth cohort study included 2 115 554 individuals who were born in Sweden between January 1, 1976, and December 31, 1998, and followed up through December 31, 2013...
November 15, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/29140700/high-pressure-behavior-of-silver-fluorides-up-to-40-gpa
#13
Adam Grzelak, Jakub Gawraczyński, Tomasz Jaroń, Dominik Kurzydłowski, Armand Budzianowski, Zoran Mazej, Piotr J Leszczyński, Vitali B Prakapenka, Mariana Derzsi, Viktor V Struzhkin, Wojciech Grochala
A combined experimental-theoretical study of silver(I) and silver(II) fluorides under high pressure is reported. For Ag(I), the CsCl-type structure is stable to at least 39 GPa; the overtone of the IR-active mode is seen in the Raman spectrum. Its Ag(II)F2 sibling is a unique compound in many ways: it is more covalent than other known difluorides, crystallizes in a layered structure, and is enormously reactive. Using X-ray diffraction and guided by theoretical calculations (density functional theory), we have been able to elucidate crystal structures of high-pressure polymorphs of AgF2...
November 15, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/29139172/association-between-structural-brain-network-efficiency-and-intelligence-increases-during-adolescence
#14
Marinka M G Koenis, Rachel M Brouwer, Suzanne C Swagerman, Inge L C van Soelen, Dorret I Boomsma, Hilleke E Hulshoff Pol
Adolescence represents an important period during which considerable changes in the brain take place, including increases in integrity of white matter bundles, and increasing efficiency of the structural brain network. A more efficient structural brain network has been associated with higher intelligence. Whether development of structural network efficiency is related to intelligence, and if so to which extent genetic and environmental influences are implicated in their association, is not known. In a longitudinal study, we mapped FA-weighted efficiency of the structural brain network in 310 twins and their older siblings at an average age of 10, 13, and 18 years...
November 14, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/29138824/genetic-mutational-testing-of-chinese-children-with-familial-hematuria-with-biopsy%C3%A2-proven-fsgs
#15
Yongzhen Li, Ying Wang, Qingnan He, Xiqiang Dang, Yan Cao, Xiaochuan Wu, Shuanghong Mo, Xiaoxie He, Zhuwen Yi
Focal segmental glomerulosclerosis (FSGS) is a pathological lesion rather than a disease, with a diverse etiology. FSGS may result from genetic and non‑genetic factors. FSGS is considered a podocyte disease due to the fact that in the majority of patients with proven‑FSGS, the lesion results from defects in the podocyte structure or function. However, FSGS does not result exclusively from podocyte‑associated genes, however also from other genes including collagen IV‑associated genes. Patients who carry the collagen type IVA3 chain (COL4A3) or COL4A4 mutations usually exhibit Alport Syndrome (AS), thin basement membrane neuropathy or familial hematuria (FH)...
November 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29138598/familial-aggregation-of-myasthenia-gravis-in-affected-families-a-population-based-study
#16
Fu-Chao Liu, Chang-Fu Kuo, Lai-Chu See, Hsin-I Tsai, Huang-Ping Yu
Introduction: Myasthenia gravis (MG) is clinically heterogeneous and can be life-threatening if bulbar or respiratory muscles are involved. However, relative contributions of genetic, shared, and nonshared environmental factors to MG susceptibility remain unclear. The aim of this study was to examine the familial aggregation and heritability of MG and the relative risks (RRs) of other autoimmune diseases in the relatives of patients with MG. Methods: A population-based family study using the Taiwan National Health Insurance (NHI) Database was conducted...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/29134445/ptosis-and-bulbar-onset-an-unusual-phenotype-of-familial-als
#17
Fabiola De Marchi, L Corrado, E Bersano, M F Sarnelli, V Solara, S D'Alfonso, R Cantello, L Mazzini
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of upper and lower motor neurons that usually spare the oculomotor nerves. Here, we describe a case of two siblings with a familial bulbar-onset ALS both with ptosis manifested at the onset of the disease.
November 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29134007/taxonomic-notes-on-two-sibling-species-of-metellina-from-asia-araneae-tetragnathidae
#18
Recep Sulhi Özkütük, Yuri M Marusik, Kadir Boğaç Kunt, Mert Elverici
Two sibling species, Metellina orientalis (Spassky, 1932) and M. kirgisica (Bakhvalov, 1974), occurring in the Middle East and Central Asia are redescribed and their distributions mapped. The previously unknown male of M. kirgisica is described for the first time. Stridulatory files on male chelicera of Metellina are also documented for the first time. The occurrence of M. kirgisica in Azerbaijan and Tajikistan and the presence of M. orientalis in Turkey are confirmed.
2017: ZooKeys
https://www.readbyqxmd.com/read/29133949/a-total-population-multigenerational-family-clustering-study-of-autoimmune-diseases-in-obsessive-compulsive-disorder-and-tourette-s-chronic-tic-disorders
#19
D Mataix-Cols, E Frans, A Pérez-Vigil, R Kuja-Halkola, C Gromark, K Isomura, L Fernández de la Cruz, E Serlachius, J F Leckman, J J Crowley, C Rück, C Almqvist, P Lichtenstein, H Larsson
The association between obsessive-compulsive disorder (OCD) and Tourette's/chronic tic disorders (TD/CTD) with autoimmune diseases (ADs) is uncertain. In this nationwide study, we sought to clarify the patterns of comorbidity and familial clustering of a broad range of ADs in individuals with OCD, individuals with TD/CTD and their biological relatives. From a birth cohort of 7 465 455 individuals born in Sweden between 1940 and 2007, we identified 30 082 OCD and 7279 TD/CTD cases in the National Patient Register and followed them up to 31 December 2013...
November 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29133642/frequency-of-primary-mutations-of-leber-s-hereditary-optic-neuropathy-patients-in-north-indian-population
#20
Anushree Mishra, Saranya Devi, Rohit Saxena, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury
PURPOSE: Leber's hereditary optic neuropathy (LHON) is an inherited optic neuropathy characterized by subacute painless vision loss. The majority of LHON is caused due to one of the three primary mutations in the mitochondrial DNA (m.G3460A, m.G11778A, and m.T14484C). The frequency of these mutations differs in different populations. The purpose of this study is to observe the frequency of three common primary mutations in the North Indian population. METHODS: Forty LHON patients within the age group of 10-50 years underwent molecular testing for primary mutations...
November 2017: Indian Journal of Ophthalmology
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