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https://www.readbyqxmd.com/read/30232804/age-sex-but-not-atp7b-genotype-effectively-influences-the-clinical-phenotype-of-wilson-disease
#1
Peter Ferenci, Wolfgang Stremmel, Anna Członkowska, Ferenc Szalay, Andre Viveiros, Albert Friedrich Stättermayer, Radan Bruha, Roderick Houwen, Tudor Pop, Rudolf Stauber, Michael Gschwantler, Jan Pfeiffenberger, Cihan Yurdaydin, Elmar Aigner, Petra Steindl-Munda, Hans-Peter Dienes, Heinz Zoller, Karl Heinz Weiss
Wilson disease (WD) is an inherited disorder of hepatic copper metabolism with considerable variation in clinical presentations, the most common ones being liver disease and neuropsychiatric disturbances. This study investigated the clinical presentation in relation to mutations in a large cohort of WD patients. PATIENTS AND METHODS: 1357 patients (702 children, 655 adults; 1172 index patients, 185 siblings, all with a Leipzig score ≥ 4, male/female:679/678) were studied. The age and the symptoms at presentation were used as key phenotypic markers...
September 19, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/30232781/description-of-rare-mutations-and-a-novel-variant-in-brazilian-patients-with-cystic-fibrosis-a-case-series-from-a-referral-center-in-the-bahia-state
#2
Laís Ribeiro Mota, Valmir Machado de Melo Filho, Lorena Lemos de Castro, Daniel Fantozzi Garcia, Regina Terse-Ramos, Maria Betânia Pereira Toralles, Renata Lúcia Leite Ferreira de Lima, Edna Lúcia Souza
Knowledge of the genetic profile of Cystic Fibrosis (CF) contributes to a better understanding of the genotype/phenotype relationship, particularly in mixed populations such as in Brazil. To describe clinical data of CF patients with rare or not yet observed CFTR gene mutations in Brazil. It was a case series of CF patients followed-up at a referral center. Clinical and laboratory data were obtained through medical records. Molecular analysis of the mutations was performed by conventional methods and/or by next-generation sequencing...
September 19, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/30231871/correction-to-a-comparative-genomic-analysis-of-putative-pathogenicity-genes-in-the-host-specific-sibling-species-colletotrichum-graminicola-and-colletotrichum-sublineola
#3
E A S Buiate, K V Xavier, N Moore, M F Torres, M L Farman, C L Schardl, L J Vaillancourt
Following the publication of this article [1], the authors informed us of the following error.
September 19, 2018: BMC Genomics
https://www.readbyqxmd.com/read/30229948/sibling-bullying-at-12-years-and-high-risk-behavior-in-early-adulthood-a-prospective-cohort-study
#4
Slava Dantchev, Dieter Wolke
Emerging evidence suggests that sibling aggression is associated with the development of high-risk behavior. This study investigated the relationship between sibling bullying perpetration and victimization in early adolescence and high-risk behavior in early adulthood. Sibling bullying was assessed at 12 years in 6,988 individuals from the Avon Longitudinal Study of Parents and Children, a birth cohort based in the UK and high-risk behavioral outcomes were assessed at 18-20 years. Frequent sibling bullying perpetration predicted antisocial behavior (OR = 1...
September 19, 2018: Aggressive Behavior
https://www.readbyqxmd.com/read/30229340/grandparents-of-children-with-cancer-a-controlled-comparison-of-perceived-family-functioning
#5
Lauren Kelada, C E Wakefield, E L Doolan, D Drew, L Wiener, G Michel, R J Cohn
PURPOSE: Grandparents can be profoundly emotionally affected when a grandchild is diagnosed with cancer. They also often provide invaluable support for the family (e.g., caring for the sick child and/or siblings). Multigenerational family functioning may therefore change. Limited research has assessed grandparents' perspectives after their grandchild is diagnosed with cancer. In this study, we aimed to (1) assess differences in perceived family functioning among grandparents of a child with cancer and grandparents of healthy children and (2) assess the cancer-specific and demographic factors related to perceived family functioning in grandparents of a grandchild with cancer...
September 18, 2018: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/30228357/variations-of-cingulate-sulcal-organization-and-link-with-cognitive-performance
#6
Céline Amiez, Charles R E Wilson, Emmanuel Procyk
The sulcal morphology of the human medial frontal cortex has received marked interest because of (1) its remarkable link with the functional organization of this region, and (2) observations that deviations from 'normal' sulcal morphological variability correlate with the prevalence of some psychiatric disorders, cognitive abilities, or personality traits. Unfortunately, background studies on environmental or genetic factors influencing the ontogenesis of the sulcal organization in this region are critically lacking...
September 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30227973/the-functional-connectivity-between-the-nucleus-accumbens-and-the-ventromedial-prefrontal-cortex-as-an-endophenotype-for-bipolar-disorder
#7
Joseph R Whittaker, Sonya F Foley, Edward Ackling, Kevin Murphy, Xavier Caseras
BACKGROUND: Alterations in functional connectivity between the nucleus accumbens (NAcc) and frontal cortices have been previously associated with the presence of psychiatric syndromes, including bipolar disorder (BD). Whether these alterations are a consequence or a risk factor for mental disorders remains unresolved. METHODS: This study included 35 patients with BD, 30 nonaffected siblings of patients with BD, and 23 healthy control subjects to probe functional connectivity at rest between NAcc and the rest of the brain in a cross-sectional design...
August 7, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/30226125/comparison-of-cognitive-functions-between-first-episode-schizophrenia-patients-their-unaffected-siblings-and-individuals-at-clinical-high-risk-for-psychosis
#8
Angel On Ki Chu, Wing Chung Chang, Sherry Kit Wa Chan, Edwin Ho Ming Lee, Christy Lai Ming Hui, Eric Yu Hai Chen
BACKGROUND: Cognitive impairment is a core feature of schizophrenia and has been observed in both familial (FHR) and clinical high-risk (CHR) samples. Nonetheless, there is a paucity of research directly contrasting cognitive profiles in these two high-risk states and first-episode schizophrenia. This study aimed to compare cognitive functions in patients with first-episode schizophrenia-spectrum disorder (FES), their unaffected siblings (FHR), CHR individuals and healthy controls. METHOD: A standardized battery of cognitive assessments was administered to 69 FES patients, 71 help-seeking CHR individuals without family history of psychotic disorder, 50 FHR participants and 68 controls...
September 18, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/30226068/determination-of-candidate-genes-involved-in-schizophrenia-using-the-whole-exome-sequencing
#9
O Senormanci, S Karatas Celik, E Valipour, V Dogan, G Senormanci
OBJECTIVES: We used the whole-exome sequencing to evaluate several genes suspected of being involved in the pathogenesis of schizophrenia. METHODS: The study sample was composed of two families. In the first family, two siblings had schizophrenia, and the parents were healthy. In the second family, two siblings had schizophrenia, while the other sibling and the parents did not. RESULTS: Indels were detected in some genes, including SPON1, GRIA3, SMAD5, PCLO, KMT2C, SRD5A2, SEMA3B, NCOR2, GPHB5, FAM174B, CLTCL1, and TMEM216...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/30225517/evolutionarily-conserved-coding-properties-favour-the-neuronal-representation-of-heterospecific-signals-of-a-sympatric-katydid-species
#10
Konstantinos Kostarakos, Heiner Römer
To function as a mechanism in premating isolation, the divergent and species-specific calling songs of acoustic insects must be reliably processed by the afferent auditory pathway of receivers. Here, we analysed the responses of interneurons in a katydid species that uses long-lasting acoustic trills and compared these with previously reported data for homologous interneurons of a sympatric species that uses short chirps as acoustic signals. Some interneurons of the trilling species respond exclusively to the heterospecific chirp due to selective, low-frequency tuning and "novelty detection"...
September 17, 2018: Journal of Comparative Physiology. A, Neuroethology, Sensory, Neural, and Behavioral Physiology
https://www.readbyqxmd.com/read/30225226/investigation-of-possible-risk-factors-in-the-development-of-seasonal-allergic-conjunctivitis
#11
Ümit Doğan, Sümeyra Ağca
AIM: To analyze the possible risk factors in the development of seasonal allergic conjunctivitis (SAC) through an evaluation of skin allergy tests and data obtained from questionnaires. METHODS: The study included a total of 75 SAC patients and 71 control subjects without SAC diagnosis who were admitted to the Abant Izzet Baysal University Medical Faculty Ophthalmology Clinic between March 2016 and December 2016. Skin prick tests were performed for all participants...
2018: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/30224586/-factors-related-to-eating-behaviors-in-early-childhood-relationships-between-autistic-tendency-sensory-characteristics-and-childcare-environment
#12
Miho Shizawa, Sayaka Yoshimura, Shuo Zhao, Motomi Toichi, Akiko Hoshino, Toshiki Katsura
Objective The objective of this study was to examine the influence of environmental factors on eating behaviors of children.Method The participants were the caregivers of 1,678 children attending nursery schools or kindergartens in two different cities of a prefecture. We distributed several self-administered questionnaires to the caregivers in conjunction with collaborating organizations. The participants returned the questionnaires either to collection boxes placed at the collaborating organizations facilities or by mailing them...
2018: [Nihon Kōshū Eisei Zasshi] Japanese Journal of Public Health
https://www.readbyqxmd.com/read/30223912/psychosocial-services-for-primary-immunodeficiency-disorder-families-during-hematopoietic-cell-transplantation-a-descriptive-study
#13
Christina Mangurian, Christopher Scalchunes, Jennie Yoo, Brent Logan, Tiffany Henderson, Sumathi Iyengar, Heather Smith, Morton J Cowan
OBJECTIVE: Caregivers for patients undergoing hematopoietic cell transplantation (HCT) are susceptible to significant psychosocial distress. This cross-sectional study aimed to describe psychosocial support services offered and used by caregivers of pediatric primary immune deficiency (PID) during HCT at 35 hospitals across North America. METHOD: Caregivers of pediatric patients with PID were recruited by e-mail to participate in an anonymous 140-question survey instrument between April and May 2016 (N = 171)...
September 18, 2018: Palliative & Supportive Care
https://www.readbyqxmd.com/read/30223255/congenital-pouch-colon-role-of-genetics-or-environmental-influence
#14
Praveen Mathur, Vandana Nunia, Rakesh Sharma, Anita Simlot, Krishna Mohan Medicherla
BACKGROUND: Congenital pouch colon (CPC), a high type of anorectal malformation, is a sporadic disease and several environmental factors are known to be involved in its pathology. To the best of our knowledge, no familial incidence of CPC has been reported anywhere in the literature so far. AIM: In the present study, which is first of its kind, we have reported the familial incidences of CPC and also tried to elucidate the role of genetics in this pathology. METHODS: We have reported 1 familial pedigree of CPC and 2 incidences of dizygotic twins (DZ), out of them one is affected and another one is normal...
September 17, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/30222823/late-stage-sj%C3%A3-gren-larsson-syndrome-maculopathy-imaged-with-oct-angiography
#15
Jaclyn L Kovach
Three adult siblings with Sjögren-Larsson syndrome (SLS) demonstrated signs of late-stage SLS maculopathy, including intraretinal crystals, atrophic changes, and lipofuscin deposition. This first report of SLS maculopathy imaged with optical coherence tomography angiography revealed decreased retinal capillary density, vessel dilation, and increased flow voids in the superficial and deep capillary plexuses. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:e78-e82.].
September 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/30222641/allogeneic-stem-cell-transplantation-from-unrelated-donors-in-acute-leukaemia
#16
Sara Lozano Cerrada, Syed Y Altaf, Eduardo Olavarria
PURPOSE OF REVIEW: To summarize the past and current knowledge of the use of unrelated donors (URDs) in allogeneic stem cell transplantation for patients with acute leukaemia. RECENT FINDINGS: The outcome of URD stem cell transplants in terms of treatment-related mortality, relapse rates, disease free survival and overall survival is comparable to sibling donors. SUMMARY: Haematopoietic stem cell transplantation (HSCT) is the therapy of choice in many haematological malignant diseases but only one-third of the patients will have an HLA-matched sibling...
September 14, 2018: Current Opinion in Oncology
https://www.readbyqxmd.com/read/30221610/genetic-influences-on-eight-psychiatric-disorders-based-on-family-data-of-4-408-646-full-and-half-siblings-and-genetic-data-of-333-748-cases-and-controls
#17
E Pettersson, P Lichtenstein, H Larsson, J Song, A Agrawal, A D Børglum, C M Bulik, M J Daly, L K Davis, D Demontis, H J Edenberg, J Grove, J Gelernter, B M Neale, A F Pardiñas, E Stahl, J T R Walters, R Walters, P F Sullivan, D Posthuma, T J C Polderman
BACKGROUND: Most studies underline the contribution of heritable factors for psychiatric disorders. However, heritability estimates depend on the population under study, diagnostic instruments, and study designs that each has its inherent assumptions, strengths, and biases. We aim to test the homogeneity in heritability estimates between two powerful, and state of the art study designs for eight psychiatric disorders. METHODS: We assessed heritability based on data of Swedish siblings (N = 4 408 646 full and maternal half-siblings), and based on summary data of eight samples with measured genotypes (N = 125 533 cases and 208 215 controls)...
September 17, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/30221345/genomic-screening-in-rare-disorders-new-mutations-and-phenotypes-highlighting-alg14-as-a-novel-cause-of-severe-intellectual-disability
#18
Malin Kvarnung, Fulya Taylan, Daniel Nilsson, Britt-Marie Anderlid, Helena Malmgren, Kristina Lagerstedt-Robinson, Eva Holmberg, Magnus Burstedt, Magnus Nordenskjöld, Ann Nordgren, Elisabeth Syk Lundberg
We have investigated 20 consanguineous families with multiple children affected by rare disorders. Detailed clinical examinations, exome sequencing of affected as well as unaffected family members and further validation of likely pathogenic variants were performed. In 16/20 families, we identified pathogenic variants in autosomal recessive disease genes (ALMS1, PIGT, FLVCR2, TFG, CYP7B1, ALG14, EXOSC3, MEGF10, ASAH1, WDR62, ASPM, PNPO, ERCC5, KIAA1109, RIPK4, MAN1B1). A number of these genes have only rarely been reported previously and our findings thus confirm them as disease genes, further delineate the associated phenotypes and expand the mutation spectrum with reports of novel variants...
September 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30220950/dna-damage-repair-ddr-mutations-and-the-utility-of-high-risk-genetics-clinics-in-metastatic-castration-refractory-prostate-cancer-mcrpc
#19
Nityam Rathi, Neysi Anderson, Samantha Greenberg, Jennie Vagher, Neeraj Agarwal, Andrew W Hahn
Germline pathogenic variants (PVs) in DNA-repair genes have garnered increasing attention in metastatic prostate cancer, and more patients are having somatic and germline DNA testing performed. Interpretation of germline DNA testing is a novel challenge for many clinicians, and the results of germline DNA-repair gene testing have significant implications for men with advanced prostate cancer and their children and siblings. Here, we report the case of a man with metastatic castration-refractory prostate cancer and a pathogenic, germline BRCA2 variant...
August 2018: World Journal of Oncology
https://www.readbyqxmd.com/read/30220759/patterns-and-predictors-of-childcare-subsidies-for-children-with-and-without-special-needs
#20
Amanda L Sullivan, Elyse M Farnsworth, Amy Susman-Stillman
One goal of childcare subsidies is to increase access to quality childcare for families of low-income, thus supporting child and family wellbeing, but subsidies may not equally benefit children with and without special needs. This study examined patterns and predictors of subsidy use among children with disabilities or delays relative to children without special needs. A nationally representative sample of approximately 4,050 young children from families of low-income was drawn from the Early Childhood Longitudinal Study-Birth Cohort...
May 2018: Children and Youth Services Review
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