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https://www.readbyqxmd.com/read/27920410/a-novel-splice-site-mutation-in-the-aspm-gene-underlies-autosomal-recessive-primary-microcephaly
#1
Jamil A Hashmi, Khalid M Al-Harbi, Khushnooda Ramzan, Alia M Albalawi, Amir Mehmood, Mohammed I Samman, Sulman Basit
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. ASPM (abnormal spindle-like, microcephaly associated) is the most commonly mutated MCPH gene. OBJECTIVE: Identify the genetic defect underlying MCPH in a Saudi family...
November 2016: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/27919886/cardiopulmonary-exercise-testing-in-children-with-cystic-fibrosis-one-centre-s-experience
#2
Elise Weir, Paul D Burns, Anne Devenny, David Young, James Y Paton
BACKGROUND: While exercise testing is increasingly used as a prognostic indicator in cystic fibrosis (CF), it is reported to be underused in UK CF centres, particularly in children. Here, we evaluated the cardiopulmonary exercise testing (CPET) results in children and young people with CF at CF annual review and its possible clinical value. METHOD: An observational study comparing CPET results using a cycle ergometer ramp test (peak oxygen uptake (Vo2peak)) and pulmonary function (forced expiratory volume in 1 s (FEV1)) was performed with body mass index (BMI) used as a disease severity marker...
December 5, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27916512/impact-of-conditioning-regimen-on-outcomes-for-children-with-acute-myeloid-leukemia-transplanted-in-first-complete-remission-an-analysis-on-behalf-of-the-pediatric-disease-working-party-of-the-ebmt
#3
G Lucchini, M Labopin, E Beohou, A Dalissier, J H Dalle, J Cornish, M Zecca, S Samarasinghe, B Gibson, F Locatelli, Y Bertrand, F Abdel-Rahman, G Socie', M Sundin, A Lankester, P Sedlacek, R M Hamladji, C Heilmann, B Afanasyev, R Hough, C Peters, P Bader, P Veys
HSCT represents the cornerstone of treatment in pediatric high risk and relapsed AML. The aim of the present study was to compare outcomes of pediatric AML patients undergoing HSCT using three different conditioning regimens: TBI and cyclophosphamide (TBI-Cy), Busulfan and Cyclophosphamide (BuCy) or Busulfan, Cyclophosphamide and Melphalan (BuCyMel). In this retrospective study, registry data for pts>2 and <18 yrs age undergoing matched allogeneic HSCT for AML in CR1 in 204 EBMT Centres between 2000 and 2010 were analyzed...
December 1, 2016: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/27915488/psychological-impact-on-caregivers-of-hiv-infected-children-in-udupi-district-karnataka
#4
Md Asadullah, Ramachandra Kamath, Sanjay Pattanshetty, Teddy Andrews, N Sreekumaran Nair
Caregivers of children living with HIV/AIDS (CLWHA) face unique challenges due to disease-related stigma and discrimination, isolation from society, financial constraints, grief and mortality of loved one. A descriptive cross-sectional study was conducted at Udupi ART centre to assess the caregiver burden, psychological distress and their associated factors among the caregivers of CLWHA in Udupi District. The convenience sampling technique was used to collect the data from 171 caregivers and analysed with the help of SPSS version 15...
December 4, 2016: AIDS Care
https://www.readbyqxmd.com/read/27914830/dermatophagoides-pteronyssinus-changes-in-sensitisation-in-the-past-11-years-and-comparison-with-other-centres-in-mexico
#5
E M Navarrete-Rodríguez, J R Fernández-Soto, B E Del Rio-Navarro, O J Saucedo-Ramírez, J J L Sienra-Monge
BACKGROUND: House dust mites are a ubiquitous air allergen in the human habitat. It has been shown that exposure to them is a fundamental factor in sensitisation and development of atopic disease. The objective of the study was to analyse changes in sensitisation to Dermatophagoides pteronyssinus (Der p.) in children treated in a tertiary level care hospital in Mexico City for a period of 11 years and compare with other studies carried out in Mexico. METHODS: A retrospective study was performed at the Hospital Infantil de México Federico Gómez (HIMFG)...
November 30, 2016: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/27914744/persistence-of-bactericidal-antibodies-following-booster-vaccination-with-4cmenb-at-12-18-or-24months-and-immunogenicity-of-a-fifth-dose-administered-at-4years-of-age-a-phase-3-extension-to-a-randomised-controlled-trial
#6
Mildred A Iro, Matthew D Snape, Merryn Voysey, Sena Jawad, Adam Finn, Paul T Heath, Gianni Bona, Susanna Esposito, Javier Diez-Domingo, Roman Prymula, Adefowope Odueyungbo, Daniela Toneatto, Peter Dull, Andrew J Pollard
BACKGROUND: 4CMenB is immunogenic in infants and toddlers. We assessed persistence of human complement serum bactericidal activity (hSBA) following a fourth dose administered at 12, 18 or 24months and characterised the antibody response to a fifth dose administered at 4years of age. METHODS: A phase 3, open label, multi-centre extension to a randomised controlled trial conducted in four countries (number of centres): Czech Republic (nineteen), Italy (four), Spain (four) and the United Kingdom (four)...
November 30, 2016: Vaccine
https://www.readbyqxmd.com/read/27914273/quality-of-attachment-in-infants-less-than-1500g-or-less-than-32weeks-related-factors
#7
María López-Maestro, Purificación Sierra-Garcia, Celia Diaz-Gonzalez, Ma Jose Torres-Valdivieso, David Lora-Pablos, Susana Ares-Segura, Carmen R Pallás-Alonso
BACKGROUND: Prematurity carries a high risk of mortality and sequelae, altering the bonding process and leading to repercussions in terms of attachment. OBJECTIVE: To assess the type of attachment in children under 32weeks' gestational age (GA) or below 1500g, in hospitals where development-centred care has been implemented and to study the association between various types of attachment and certain neonatal and family characteristics. METHOD: Children <1500g or <32weeks GA who were born or admitted before 48h of life to one of two hospitals in Madrid between January and December 2012 were candidates for the study...
November 30, 2016: Early Human Development
https://www.readbyqxmd.com/read/27912950/a-randomized-placebo-controlled-trial-of-traditional-chinese-medicine-as-an-add-on-therapy-to-oral-montelukast-in-the-treatment-of-mild-persistent-asthma-in-children
#8
Pak-Hong Chan, Ching-Yee To, Eric Yat-Tung Chan, Handong Li, Xiuxia Zhang, Pok-Yu Chow, Po-Ling Liu, Shuk-Yu Leung, Chung-Hong Chan, Ka-Yan Chan, Johnny Yick-Chun Chan, Jonathan Pak-Heng Ng, Daniel Kwok-Keung Ng
OBJECTIVES: Traditional Chinese medicine are commonly used for treatment of asthma. However, there are only very limited data about its efficacy in children. Therefore, we aimed to determine the efficacy of augmented Yu Ping Feng San (aYPFS) as an add-on to oral montelukast compared with montelukast alone for treatment of mild persistent asthma in children. DESIGN: A single centre, placebo-controlled, double-blinded, randomized control trial was carried out. Participants with age 6-18 years who had mild persistent asthma were randomized according to random number list to receive either aYPFS plus montelukast for 24 weeks or placebo plus montelukast for 24 weeks...
December 2016: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/27910173/facilitators-and-barriers-to-person-centred-care-in-child-and-young-people-mental-health-services-a-systematic-review
#9
Dawid Gondek, Julian Edbrooke-Childs, Tjasa Velikonja, Louise Chapman, Felicity Saunders, Daniel Hayes, Miranda Wolpert
: Implementation of person-centred care has been widely advocated across various health settings and patient populations, including recent policy for child and family services. Nonetheless, evidence suggests that service users are rarely involved in decision-making, whilst their preferences and goals may be often unheard. The aim of the present research was to systematically review factors influencing person-centred care in mental health services for children, young people and families examining perspectives from professionals, service users and carers...
December 2, 2016: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/27908292/conservatively-treated-congenital-hyperinsulinism-chi-due-to-k-atp-channel-gene-mutations-reducing-severity-over-time
#10
Maria Salomon-Estebanez, Sarah E Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee
BACKGROUND: Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review variation in severity and outcomes in patients with K-ATP CHI treated by medical therapy. METHODS: Twenty-one consecutively presenting patients with K-ATP CHI with dominantly and recessively inherited mutations in ABCC8/KCNJ11 were selected in a specialised CHI treatment centre to review treatment outcomes...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27906964/undernutrition-vitamin-a-and-iron-deficiency-are-associated-with-impaired-intestinal-mucosal-permeability-in-young-bangladeshi-children-assessed-by-lactulose-mannitol-test
#11
Md Iqbal Hossain, Rashidul Haque, Dinesh Mondal, Mustafa Mahfuz, Am Shamsir Ahmed, M Munirul Islam, Richard L Guerrant, William A Petri, Tahmeed Ahmed
BACKGROUND: Lactulose/mannitol (L:M) test has been used as a non-invasive marker of intestinal mucosal -integrity and -permeability (enteropathy). We investigated the association of enteropathy with anthropometrics, micronutrient- status, and morbidity in children. METHODS: The urine and blood samples were collected from 925 children aged 6-24 months residing in Mirpur slum of Dhaka, Bangladesh during November 2009 to April 2013. L:M test and micronutrient status were assessed in the laboratory of International Centre for Diarrhoeal Diseases Research, Bangladesh (icddr,b) following standard procedure...
2016: PloS One
https://www.readbyqxmd.com/read/27905541/serbian-language-version-of-the-modified-checklist-for-autism-in-toddlers-revised-with-follow-up-cross-cultural-adaptation-and-assessment-of-reliability
#12
Mia Carakovac, Jelena Jovanovic, Marko Kalanj, Nenad Rudic, Olivera Aleksic-Hil, Branko Aleksic, Itzel Bustos Villalobos, Hideki Kasuya, Norio Ozaki, Dusica Lecic-Tosevski, Milica Pejovic-Milovancevic
Early detection of Autism Spectrum Disorder (ASD) has proven to be of high significance, however there is a limited availability of ASD screening tools in Serbian language. In this study we aim to translate, assess reliability and, in part, test the applicability of Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT R/F) in Serbian Healthcare environment. We screened 128 children in three primary healthcare centres and 20 children in a tertiary psychiatric center, using M-CHAT R/F translated into Serbian language, between December 2014 and October 2015...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27903282/start-now-a-comprehensive-skills-training-programme-for-female-adolescents-with-oppositional-defiant-and-conduct-disorders-study-protocol-for-a-cluster-randomised-controlled-trial
#13
Linda Kersten, Martin Prätzlich, Sandra Mannstadt, Katharina Ackermann, Gregor Kohls, Helena Oldenhof, Daniel Saure, Katrin Krieger, Beate Herpertz-Dahlmann, Arne Popma, Christine M Freitag, Robert L Trestman, Christina Stadler
BACKGROUND: In Europe, the number of females exhibiting oppositional defiant disorder (ODD) and conduct disorder (CD) is growing. Many of these females live in youth welfare institutions. Consequently, there is a great need for evidence-based interventions within youth welfare settings. A recently developed approach targeting the specific needs of girls with ODD and CD in residential care is START NOW. The aim of this group-based behavioural skills training programme is to specifically enhance emotional regulation capacities to enable females with CD or ODD to appropriately deal with daily-life demands...
December 1, 2016: Trials
https://www.readbyqxmd.com/read/27900219/outcome-of-laparoscopic-upper-pole-heminephroureterectomy-in-children-a-two-centre-experience
#14
Ali Serdar Gözen, Haytham Badawy, Dogu Teber, Akram Assem, Jens Rassweiler
OBJECTIVE: To report our multicentre experience and outcomes with laparoscopic transperitoneal and retroperitoneal upper pole heminephroureterectomy (HNU) in children with renal duplex systems and impaired upper pole. PATIENTS AND METHODS: Laparoscopic HNU was performed in 22 children (15 girls, seven boys) with a mean age of 5.9 years. A retroperitoneal approach was used in 17 patients and a transperitoneal approach in the remaining five, between 2005 and 2010...
December 2016: Arab Journal of Urology
https://www.readbyqxmd.com/read/27899118/surgical-intervention-for-paediatric-liver-injuries-is-almost-history-a-12-year-cohort-from-a-major-scandinavian-trauma-centre
#15
Tomohide Koyama, Jorunn Skattum, Peder Engelsen, Torsten Eken, Christine Gaarder, Pål Aksel Naess
BACKGROUND: Although nonoperative management (NOM) has become standard care, optimal treatment of liver injuries in children is still challenging since many of these patients have multiple injuries. Moreover, the role of angiography remains poorly defined, and a high index of suspicion of complications is warranted. This study reviews treatment and outcomes in children with liver injuries at a major Scandinavian trauma centre over a 12-year period. METHODS: Patients <17 years old with liver injury admitted to Oslo University Hospital Ullevaal during the period 2002-2013 were retrospectively reviewed...
November 29, 2016: Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
https://www.readbyqxmd.com/read/27895911/under-five-mortality-among-displaced-populations-in-meheba-refugee-camp-zambia-2008-2014
#16
Nachela Malisenti Chelwa, Rosemary Ndonyo Likwa, Jeremiah Banda
BACKGROUND: Under-five mortality, which is the probability of a child dying before their fifth birthday, is of concern in Zambia as infant and child mortality rates are important social indicators. Displaced population in camps provide a basis for under-five mortality surveillance because detailed registration databases have been developed. Additionally, health data routinely collected on mortality allowed for a review of mortality trends and identification of correlating factors to under-five mortality...
2016: Archives of Public Health, Archives Belges de Santé Publique
https://www.readbyqxmd.com/read/27895605/social-cognition-in-preschoolers-effects-of-early-experience-and-individual-differences
#17
Daniela Bulgarelli, Paola Molina
Social cognition is the way in which people process, remember, and use information in social contexts to explain and predict their own behavior and that of others. Children's social cognition may be influenced by multiple factors, both external and internal to the child. In the current study, two aspects of social cognition were examined: Theory of Mind and Emotion Understanding. The aim of this study was to analyze the effects of type of early care (0-3 years of age), maternal education, parents' country of birth, and child's language on the social cognition of 118 Italian preschoolers...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27895358/paediatric-traumatic-brain-injury-presentation-prognostic-indicators-and-outcome-analysis-from-a-tertiary-care-center-in-a-developing-country
#18
Badar Ujjan, Muhammad Waqas, Muhammad Babar Khan, Saqib Kamran Bakhshi, Muhammad Ehsan Bari
Traumatic brain injury (TBI) is the leading cause of morbidity and mortality in children worldwide. This study was conducted to report the presentation, management, outcomes and prognostic indicators in a large series of patients from a tertiary care centre in a developing country. It is a review of prospectively collected data of paediatric patients with TBI admitted at our centre between July 2010 and December 2013. A total of 291 patients with a mean age of 7.2±5.0 years were dichotomised into survivors and non-survivors, and variables were compared between the two groups...
October 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27891655/a-comparison-of-parent-and-childcare-provider-s-attitudes-and-perceptions-about-preschoolers-physical-activity-and-outdoor-time
#19
P S Tandon, B E Saelens, K A Copeland
BACKGROUND: Young children depend on adult caregivers to provide opportunities for physical activity. Research has focused on barriers and facilitators to children's physical activity while in childcare, but parental influences remain largely unknown. This study examines parent's attitudes about preschoolers' physical activity and outdoor time, compares them with those of childcare providers and determines the association between parental attitudes and preschoolers' measured activity...
November 28, 2016: Child: Care, Health and Development
https://www.readbyqxmd.com/read/27891435/a-study-of-clinical-profile-and-quality-of-life-in-patients-with-scabies-at-a-rural-tertiary-care-centre
#20
Pragya Ashok Nair, Rita Vipul Vora, Nidhi B Jivani, Shailee S Gandhi
INTRODUCTION: Scabies is a contagious disease primarily related to poverty and overcrowding, it rapidly spreads from person to person specially in people with poor hygiene. We come across many patients from rural areas with scabies. In India the incidence ranges from 13% to 59% in rural and urban areas. Many people complain of sleep disturbances and affection of work and leisure activities due to itching. Very few studies are done in India about the affection of quality of life in such patients...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
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