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https://www.readbyqxmd.com/read/28812650/autosomal-recessive-cone-rod-dystrophy-can-be-caused-by-mutations-in-the-atf6-gene
#1
Anna Skorczyk-Werner, Wei-Chieh Chiang, Anna Wawrocka, Katarzyna Wicher, Małgorzata Jarmuż-Szymczak, Magdalena Kostrzewska-Poczekaj, Aleksander Jamsheer, Rafał Płoski, Małgorzata Rydzanicz, Dorota Pojda-Wilczek, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Jonathan H Lin, Maciej R Krawczyński
Inherited retinal dystrophies (IRDs) are clinically and genetically highly heterogeneous, making clinical diagnosis difficult. The advances in high-throughput sequencing (ie, panel, exome and genome sequencing) have proven highly effective on defining the molecular basis of these disorders by identifying the underlying variants in the respective gene. Here we report two siblings affected by an IRD phenotype and a novel homozygous c.1691A>G (p.(Asp564Gly)) ATF6 (activating transcription factor 6A) missense substitution identified by whole exome sequencing analysis...
August 16, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28812472/modifiable-risk-factors-associated-with-bronchiolitis
#2
Raffaella Nenna, Renato Cutrera, Antonella Frassanito, Claudia Alessandroni, Ambra Nicolai, Giulia Cangiano, Laura Petrarca, Serena Arima, Serena Caggiano, Nicola Ullman, Paola Papoff, Enea Bonci, Corrado Moretti, Fabio Midulla
BACKGROUND: We sought to clarify possibly modifiable risk factors related to pollution responsible for acute bronchiolitis in hospitalized infants. METHODS: For this observational study, we recruited 213 consecutive infants with bronchiolitis (cases: median age: 2 months; age range: 0.5-12 months; boys: 55.4%) and 213 children aged <3 years (controls: median age: 12 months; age range: 0.5-36 months; boys: 54.5%) with a negative medical history for lower respiratory tract diseases hospitalized at 'Sapienza' University Rome and IRCCS Bambino Gesù Hospital...
August 1, 2017: Therapeutic Advances in Respiratory Disease
https://www.readbyqxmd.com/read/28812061/behavioral-comorbidities-and-drug-treatments-in-a-zebrafish-scn1lab-model-of-dravet-syndrome
#3
Brian P Grone, Tiange Qu, Scott C Baraban
Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in which patients experience comorbid behavioral conditions, including movement disorders, sleep abnormalities, anxiety, and intellectual disability. To study the functional consequences of voltage-gated sodium channel mutations, we use zebrafish with a loss-of-function mutation in scn1lab, a zebrafish homolog of human SCN1A. Homozygous scn1lab(s552/s552) mutants exhibit early-life seizures, metabolic deficits, and early death...
July 2017: ENeuro
https://www.readbyqxmd.com/read/28812038/should-patients-with-frozen-shoulder-be-screened-for-diabetes-mellitus
#4
Ori Safran, Madi El-Haj, Gil Leibowitz, Shaul Beyth, Zohar Furman, Charles Milgrom, Leonid Kandel
BACKGROUND: Idiopathic frozen shoulder (nontraumatic) is commonly encountered in patients between the ages of 35 and 60 years in general orthopaedic practice. While the prevalence of frozen shoulder among the general population is estimated to be between 2% and 4%, a significantly higher prevalence of 10% to 22% has been reported in patients with diabetes mellitus. Since diabetic patients are more prone to develop frozen shoulder than nondiabetics, the question arises as to whether patients diagnosed as having idiopathic frozen shoulder are at greater risk to develop diabetes mellitus and should be routinely screened for this condition...
July 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28811895/long-term-rearrangement-of-retinal-structures-in-a-novel-mutation-of-x-linked-retinoschisis
#5
Stefano Piermarocchi, Stefania Miotto, Davide Colavito, Elda Del Giudice, Alberta Leon, Veronica Maritan, Rita Piermarocchi, Alma Patrizia Tormene
The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure. Two brothers with an early onset maculopathy were diagnosed with XLRS. Fundus photography, fluorescein angiography, spectral domain optical coherence tomography and electroretinogram analyses were performed. Their sister was also examined. All subjects were screened for mutations in the RS1 gene...
September 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28811506/an-amphibian-chemical-defense-phenotype-is-inducible-across-life-history-stages
#6
Gary M Bucciarelli, H Bradley Shaffer, David B Green, Lee B Kats
Inducible phenotypic responses to environmental variation are ubiquitous across the tree of life, but it remains an open question whether amphibian chemical defense phenotypes are inducible. Tetrodotoxin (TTX) is a key chemical defense trait in North American and Eurasian newts (Salamandridae). We tested if TTX can be induced by exposing populations of adult and larval California newts (Taricha torosa) to sustained stressful conditions while longitudinally quantifying TTX concentrations. Adult newts rapidly increased chemical defenses in response to simulated predator attacks and consistently maintained elevated TTX concentrations relative to wild, non-captive individuals...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28810861/the-implementation-of-long-lasting-insecticidal-bed-nets-has-differential-effects-on-the-genetic-structure-of-the-african-malaria-vectors-in-the-anopheles-gambiae-complex-in-dielmo-senegal
#7
Seynabou Sougoufara, Cheikh Sokhna, Nafissatou Diagne, Souleymane Doucouré, Pape MBacké Sembène, Myriam Harry
BACKGROUND: Mosquitoes belonging to the Anopheles gambiae complex are the main vectors of malaria in sub-Saharan Africa. Among these, An. gambiae, Anopheles coluzzii and Anopheles arabiensis are the most efficient vectors and are largely distributed in sympatric locations. However, these species present ecological and behavioural differences that impact their vectorial capacity and complicate vector-control efforts, mainly based on long-lasting insecticidal bed nets (LLINs) and indoor residual spraying (IRS)...
August 15, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28806862/feasibility-and-effectiveness-of-dyadic-prolonged-exposure-intervention-for-preventing-posttraumatic-grief-in-young-children-a-case-report-of-two-siblings
#8
Lilach Rachamim
This article highlights the feasibility of a dyadic prolonged exposure (DPE) intervention (L. Rachamim, I. Mirochnik, L. Helpman, N. Nacasch, & E. Yadin, ) in a 3-year-old preschooler and in a 6-year-old kindergartener immediately following the traumatic death of their younger sibling. It presents a detailed case description of the DPE treatment addressing traumatic grief and includes transcribed treatment dialogue. At the time of treatment termination, both children and caregivers resumed normal functioning...
August 14, 2017: Infant Mental Health Journal
https://www.readbyqxmd.com/read/28806213/maintenance-of-good-visual-acuity-in-best-disease-associated-with-chronic-bilateral-serous-macular-detachment
#9
Sarra Gattoussi, Camiel J F Boon, K Bailey Freund
PURPOSE: We describe the long-term follow-up of a patient with multifocal Best disease with chronic bilateral serous macular detachment and unusual peripheral findings associated with a novel mutation in the BEST1 gene. METHODS: Case report. RESULTS: A 59-year-old white woman was referred for an evaluation of her macular findings in 1992. There was a family history of Best disease in the patient's mother and a male sibling. Her medical history was unremarkable...
August 10, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28806110/-anteposition-in-malignant-hematologic-diseases-of-siblings-in-szabolcs-szatm%C3%A3-r-bereg-county-hungary-analysis-of-data-of-a-34-year-period
#10
János Jakó, László Szerafin
INTRODUCTION: In their previous works, the authors reported findings from familial hematologic malignancies in Szabolcs-Szatmár-Bereg county, Hungary. So far there are no other studies on this topic available in Hungary. AIM: Detailed analysis of epidemiologic features of hematologic malignancies of siblings. METHOD: During a 34-year period (between January 1, 1983 and December 31, 2016), 86 families with hematologic malignancies were recorded in Szabolcs-Szatmár-Bereg county...
August 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28805766/-results-of-a-clinical-and-genealogical-analysis-of-pedigrees-of-children-with-cerebral-palsy-in-the-population-of-rostov-region
#11
V A Tupikov, T S Kolmakova, V B Shamik, M V Tupikov, N M Churilov
AIM: To perform clinical and genealogical pedigree analysis and determine the proportion of hereditary factors in the etiopathogenesis of cerebral palsy (CP) in children in the Rostov Region. MATERIAL AND METHODS: Pedigrees and the prevalence of CP, congenital malformations and other related diseases among relatives of I, II and III degrees of kinship of 229 probands with CP were studied. RESULTS AND CONCLUSION: The family concentration of the disease was detected in 15 (6...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28805427/on-the-relative-importance-of-individual-level-characteristics-and-dyadic-interaction-effects-in-negotiations-variance-partitioning-evidence-from-a-twins-study
#12
Hillary Anger Elfenbein, Noah Eisenkraft, Jared R Curhan, Lisabeth F DiLalla
Negotiations are inherently dyadic. Negotiators' individual-level characteristics may not only make them perform better or worse in general, but also may make them particularly well- or poorly-suited to negotiate with a particular counterpart. The present research estimates the extent to which performance in a distributive negotiation is affected by (a) the negotiators' individual-level characteristics and (b) dyadic interaction effects that are defined by the unique pairings between the negotiators and their counterparts...
August 14, 2017: Journal of Applied Psychology
https://www.readbyqxmd.com/read/28803808/two-novel-mutations-p-ser160pro-and-p-arg472cys-causing-glucose-6-phosphate-isomerase-deficiency-are-associated-with-erythroid-dysplasia-and-inappropriately-suppressed-hepcidin
#13
Renata Mojzikova, Pavla Koralkova, Dusan Holub, Zuzana Saxova, Dagmar Pospisilova, Daniela Prochazkova, Petr Dzubak, Monika Horvathova, Vladimir Divoky
Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell glycolytic enzymopathy. We report three patients from two unrelated families of Czech and Slovak origin with macrocytic hemolytic anemia due to GPI deficiency. The first patient had 15% of residual GPI activity resulting from two new heterozygous missense mutations c.478T>C and c.1414C>T leading to substitutions p.(Ser160Pro) and p.(Arg472Cys)...
April 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28803432/quality-of-life-in-home-ventilated-children-and-their-families
#14
Rafael González, Amaya Bustinza, Sarah N Fernandez, Miriam García, Silvia Rodriguez, Ma Ángeles García-Teresa, Mirella Gaboli, Silvia García, Olaia Sardón, Diego García, Antonio Salcedo, Antonio Rodríguez, Ma Carmen Luna, Arturo Hernández, Catalina González, Alberto Medina, Estela Pérez, Alicia Callejón, Juan D Toledo, Mercedes Herranz, Jesús López-Herce
HMV (home mechanical ventilation) in children has increased over the last years. The aim of the study was to assess perceived quality of life (QOL) of these children and their families as well as the problems they face in their daily life.We performed a multicentric cross-sectional study using a semi-structured interview about the impact of HMV on families and an evaluation questionnaire about perceived QOL by the patient and their families (pediatric quality of life questionnaire (PedsQL4.0)). We studied 41 subjects (mean age 8...
August 12, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28802914/forced-but-not-free-choice-nicotine-during-lactation-alters-maternal-behaviour-and-noradrenergic-system-of-pups-impact-on-social-behaviour-of-adolescent-isolated-male-rats
#15
Doriana Chirico, Emilia Romano, Marco Famele, Rosa Draisci, Rosanna Mancinelli, Tiziana Pascucci, Walter Adriani
Adverse effects of nicotine during pregnancy have been greatly studied, while nowadays few works are focused on consequences of maternal tobacco smoking after birth. The present study investigated the behavioural and early neurochemical effects of nicotine treatment during first weeks of post-natal life in rats. We used "free choice" treatment (H2O+NIC dams could drink from two bottles, containing 10mg/L nicotine hydrogen tartrate salt, or water) versus "forced choice" (NIC+NIC mothers could drink from two bottles both containing nicotine hydrogen tartrate salt, range from 0...
August 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28801571/crp-level-associated-polymorphism-rs1205-within-the-crp-gene-is-associated-with-2-hour-glucose-level-the-sapphire-study
#16
Wayne Huey-Herng Sheu, Wen-Chang Wang, Kwan-Dun Wu, Chih-Tsueng He, Chii-Min Hwu, Thomas Quertermous, Wan-Shan Hsieh, Wen-Jane Lee, Chih-Tai Ting, Yii-Der I Chen, Chao A Hsiung
C-reactive protein (CRP) encoded by CRP gene is a reflection of systemic inflammation. Many studies associated CRP level with diabetes and glucose levels, but the association of CRP gene with these traits is unclear. We conducted a cross-sectional study consisting of 945 siblings from 330 families collected by the Stanford Asian Pacific Program in Hypertension and Insulin Resistance (SAPPHIRe) to investigate associations between CRP polymorphisms, circulating CRP, diabetes, and glucose levels. Five single-nucleotide polymorphisms were analyzed: rs3093059, rs2794521, rs1417938, rs1800947, and rs1205...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801389/the-role-of-rehabilitation-measures-in-reintegration-of-children-with-brain-tumours-or-leukaemia-and-their-families-after-completion-of-cancer-treatment-a-study-protocol
#17
Mona Leandra Peikert, Laura Inhestern, Corinna Bergelt
INTRODUCTION: For ill children as well as for their parents and siblings, childhood cancer poses a major challenge. Little is known about the reintegration into daily life of childhood cancer survivors and their families. The aim of this prospective observational study is to further the understanding of the role of rehabilitation measures in the reintegration process of childhood leukaemia or brain tumour survivors and their family members after the end of cancer treatment. METHODS AND ANALYSIS: This prospective observational study consists of three study arms: a quantitative study in cooperation with three German paediatric oncological study registries (study arm 1), a quantitative study in cooperation with a rehabilitation clinic that offers a family-oriented paediatric oncological rehabilitation programme (study arm 2) and a qualitative study at 12-month follow-up including families from the study arms 1 and 2 (study arm 3)...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28800894/examining-unanswered-questions-about-the-home-environment-and-childhood-obesity-disparities-using-an-incremental-mixed-methods-longitudinal-study-design-the-family-matters-study
#18
Jerica M Berge, Amanda Trofholz, Allan Tate, Maureen Beebe, Angela Fertig, Michael Miner, Scott Crow, Kathleen A Culhane-Pera, Shannon Pergament, Dianne Neumark-Sztainer
There are disparities in the prevalence of childhood obesity for children from low-income and minority households. Mixed-methods studies that examine home environments in an in-depth manner are needed to identify potential mechanisms driving childhood obesity disparities that have not been examined in prior research. The Family Matters study aims to identify risk and protective factors for childhood obesity in low-income and minority households through a two-phased incremental, mixed-methods, and longitudinal approach...
August 8, 2017: Contemporary Clinical Trials
https://www.readbyqxmd.com/read/28800427/sibling-response-to-initial-antiepileptic-medication-predicts-treatment-success
#19
Keisuke Ueda, Fatema Serajee, Jan Rajlich, Sharief Taraman, Lindsey Steckling, Ahm M Huq
OBJECTIVE: A recent study focusing on a response to antiepileptic drugs (AED) among siblings for epilepsy showed a similar response among epileptic siblings to specific AEDs or AED combinations. Currently, however, family history of treatment response to AEDs is not readily employed in deciding which initial medication to use when treating patients with epilepsy. We tested the hypothesis that sibling response to initial AED predicts treatment success. METHODS: Presumed siblings were identified from a single-center database of patients diagnosed with epilepsy by matching last name, address, and name of parent(s)...
August 1, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28799427/quality-of-life-in-family-caregivers-of-schizophrenia-patients-in-spain-caregiver-characteristics-caregiving-burden-family-functioning-and-social-and-professional-support
#20
José M Ribé, Manel Salamero, Carles Pérez-Testor, Josep Mercadal, Concepción Aguilera, Margarida Cleris
OBJECTIVE: Caregivers experience physical and mental stress that ends up lowering their quality of life (QoL). Our goal was to research (a) the level of caregivers QoL; (b) the relationships between the demographic characteristics of the caregivers, their caregiving burden, their family functioning, their social and professional support and their QoL and (c) the best predictors of caregivers QoL. METHODS: 100 key caregivers (70% parents, 8% spouses, 17% siblings and 5% children) were studied using the world health organization quality of life-Bref (WHOQOL-BREF) to research their QoL, the Zarit Scale to assess their perception of their caregiving burden, the Social Network Questionnaire to examine their social support, the Family APGAR to assess the satisfaction with social support from the family and a professional support scale (Escala de Apoyo Profesional) to determine the professional support received by caregivers was performed...
August 11, 2017: International Journal of Psychiatry in Clinical Practice
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