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https://www.readbyqxmd.com/read/28820737/when-one-disease-is-not-enough-succinyl-coa-3-oxoacid-coenzyme-a-transferase-scot-deficiency-due-to-a-novel-mutation-in-oxct1-in-an-infant-with-known-phenylketonuria
#1
Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, Stephan Rust, Jörn Oliver Sass, Frank Rutsch
A 9-month-old Turkish girl was admitted several times within 3 months to the hospital in reduced general condition and with extreme tachypnea. The patient had been diagnosed with phenylketonuria (PKU) in newborn screening and has been treated with a low phenylalanine diet and amino acid supplements. Each time an unexplained pronounced metabolic acidosis was noted, and the child was treated with sodium-bicarbonate and glucose-electrolyte infusions. The acidosis with only slightly abnormal glucose, normal lactate levels and pronounced ketonuria suggested a defect in ketone body utilization...
August 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#2
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28819946/inflammatory-bowel-disease-and-pregnancy
#3
Anna Małgorzata Maliszewska, Aleksandra Warska, Krzysztof Cendrowski, Włodzimierz Sawicki
Inflammatory bowel disease (IBD) comprising Crohn's disease (CD), ulcerative colitis (UC), and IBD-unclassified (IBD-U) may appear at any age. As such, IBD commonly affects young patients in their reproductive age. Rate of voluntary childlessness among women with IBD far exceed that of the general population, as patients with IBD fear not only the effect of pregnancy on the course of inflammatory bowel disease, but also the increased risk of the offspring developing the disease, adverse pregnancy outcomes, the effect IBD treatment may have on the health and development of the infant or the risk of relapse during pregnancy and the influence of lactation on child development and disease course...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28819893/-cochlear-implantation-in-a-girl-with-7q-microdeletion-syndrome
#4
A Roemer, T Lenarz, A Lesinski-Schiedat
One of the rare genetic diseases with sensory hearing loss is the microdeletion 7q syndrome. First described in the 1990s, only 7 cases of patients with this disease are described in the literature. Although this mutation is not well known, otological treatment is necessary if the DFNA5 gene is affected. A mutation in this gene leads to progressive hearing loss. Affected children therefore need regular evaluation of their hearing to ensure adequate treatment with hearing aids at early stages. We now present a case of an affected child with sensory hearing loss, mental retardation and anogenital malformations...
August 17, 2017: HNO
https://www.readbyqxmd.com/read/28819599/synovial-chondromatosis-a-rare-differential-diagnosis-of-hip-pain-in-a-child
#5
Manesh Chacko Philip, Sajeer Usman
INTRODUCTION: Primary synovial chondromatosis (SC) is a disease of the synovium occurring in the third to fifth decade of life with the peak incidence in the fifth decade and commonly involves the knee in 50% cases. The diagnosis of SC is primarily radiological and intraoperative. Primary SC of the hip is rare, and their prevalence is not known. CASE REPORT: A 7-year-old female child presented with pain and limp left hip for 6 weeks. She had a stiff hip gait. Clinical examination revealed a fixed abduction, flexion deformity, and restricted internal rotation with apparent lengthening of 2 cm...
March 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28819488/-elbow-abscess-revealing-cat-scratch-disease-about-a-case
#6
Mustafa Nkaoui, Ahmed El Bardouni, Omar Lazrek, Nasser Ibo, Fouad Zouaidia, Mohamed Kharmaz, Mohamed Elouadghiri, Omar Lamrani, Mustapha Mahfoud, Mohamed Saleh Berrada
Cat-scratch disease (CSD) is a common cause of chronic benign lymphadenopathy in the child and the young adult. Bartonella henselae is the agent responsible for this disease. Common symptoms include regional lymphadenopathy associated with fever. We report a clinically atypical and potentially misleading case of a 18-year old girl with CSD revealed by elbow abscess.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28817621/re-evaluation-of-the-cost-effectiveness-and-effects-of-childhood-rotavirus-vaccination-in-norway
#7
Christina Hansen Edwards, Birgitte Freiesleben de Blasio, Beatriz Valcárcel Salamanca, Elmira Flem
BACKGROUND: Rotavirus vaccination was included into the Norwegian childhood immunisation programme in 2014. Before implementation, rotavirus vaccination was found to be cost-effective from a societal perspective, but not from a healthcare perspective. Since introduction, new data on the incidence and economic effects of rotavirus disease have become available. We assessed early epidemiological effects of the rotavirus vaccination programme and re-evaluated its cost-effectiveness in Norway for the years 2015-2019...
2017: PloS One
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#8
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28816916/developmental-screening-in-pediatric-sickle-cell-disease-disease-related-risk-and-screening-outcomes-in-4-year-olds
#9
Jeffrey Schatz, Alyssa Schlenz, Laura Reinman, Kelsey Smith, Carla W Roberts
OBJECTIVE: Studies of early child development in sickle cell disease (SCD) have found modest associations between disease-related risks and developmental status in infants and toddlers, but such associations are evident by early elementary school. We screened 4-year-old children with SCD using 2 screening strategies to assess if biomedical risk factors for neurologic disease are related to developmental screening outcomes at this intermediate age. METHODS: Seventy-seven 4-year-old children with SCD (M = 4...
August 4, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28816807/a-whooping-cough-education-module-for-wic-clients-in-utah
#10
Karlen E Luthy, Alicia Anderson, Janelle Macintosh, Renea L Beckstrand, Lacey M Eden, Ryan Amy, Christopher I Macintosh
BACKGROUND: Clients in the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) are required to complete education modules quarterly to maintain eligibility. The purposes of this project were to: (1) create a whooping cough vaccination education module for WIC clients; (2) evaluate baseline perceptions of WIC clients on the whooping cough vaccine and disease; and (3) evaluate whooping cough knowledge following completion of the module. PROBLEM: A decline in vaccination rates among infants and children using WIC services was reported by a local WIC program director who requested whooping cough vaccination education materials...
September 2017: MCN. the American Journal of Maternal Child Nursing
https://www.readbyqxmd.com/read/28816800/acute-sickle-cell-orbitopathy-masquerading-as-orbital-cellulitis
#11
Christopher M Stewart, Zuzana Sipkova, Goran D Hildebrand, Jonathan H Norris
Sickle cell orbitopathy is a rare manifestation of a sickle cell crisis and can closely mimic orbital cellulitis, both clinically and radiologically. We present a case where a child presented with what was thought to be orbital cellulitis and was treated accordingly. Subtle radiologic features of sickle cell orbitopathy were initially overlooked, resulting in an incorrect diagnosis and a treatment delay for the patient. Correctly treated most cases resolve with no adverse affects, highlighting how important it is to consider acute sickle cell orbitopathy in the differential diagnosis of acute periorbital swelling in children with sickle disease...
August 14, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28816199/early-childhood-caries-a-review
#12
Abdulfatah Alazmah
AIM: To review and update the current knowledge about early childhood caries (ECC) and its etiology, prevalence, risk factors, management, and preventive strategies. BACKGROUND: Early childhood caries is a disease affecting significantly both well-developed and industrial nations. The ECC can significantly affect the child's quality of life, as it may lead to infection, swelling, pain, and other symptoms. The ECC affects children after eruption of primary teeth until age of around 5 years...
August 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28816140/comparison-between-child-turcotte-pugh-and-albumin-bilirubin-scores-in-assessing-the-prognosis-of-hepatocellular-carcinoma-after-stereotactic-ablative-radiation-therapy
#13
Cheng-Hsiang Lo, Ming-Yueh Liu, Meei-Shyuan Lee, Jen-Fu Yang, Yee-Min Jen, Chun-Shu Lin, Hsing-Lung Chao, Po-Chien Shen, Wen-Yen Huang
PURPOSE: To evaluate the prognostic performance of the Child-Turcotte-Pugh (CTP) score and the albumin-bilirubin (ALBI) score in hepatocellular carcinoma (HCC) patients treated using stereotactic ablative radiation therapy (SABR). METHODS AND MATERIALS: This retrospective study evaluated the data of patients with HCC who underwent SABR between December 2007 and June 2015. We collected pretreatment CTP and ALBI scores and analyzed their correlation with survival and liver toxicity...
September 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28815837/cost-of-asthma-in-children-a-nationwide-population-based-cost-of-illness-study
#14
Manuel José Ferreira de Magalhães, Rita da Silva Amaral, Ana Margarida Pereira, Ana Isabel Alves de Sá E Sousa Santos, Maria Inês Águeda de Azevedo, Luís Filipe Ribeiro de Azevedo, João Almeida Lopes Fonseca
BACKGROUND: Childhood asthma is very prevalent and costs can be high, especially in severe disease. This study aimed to estimate the cost of asthma in Portuguese children and the variations by level of asthma control. METHODS: A nationwide, population- and prevalence-based cost-of-illness study with a societal perspective was conducted. We measured direct and indirect costs using a bottom-up approach and a human capital method, respectively, for 208 children (<18 years), from two national repositories...
August 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28815645/lenalidomide-as-second-line-therapy-for-advanced-hepatocellular-carcinoma-exploration-of-biomarkers-for-treatment-efficacy
#15
Y-Y Shao, B-B Chen, D-L Ou, Z-Z Lin, C-H Hsu, M-J Wang, A-L Cheng, C Hsu
BACKGROUND: Lenalidomide has immunomodulatory and anti-angiogenic effects and showed moderate anti-tumour efficacy in patients with. advanced hepatocellular carcinoma (HCC) AIM: To explore potential biomarkers of lenalidomide efficacy as second-line therapy for HCC. METHODS: Eligible patients were diagnosed with advanced HCC, documented progression on sorafenib, and Child-Pugh class A liver function. Patients received 25 mg/day lenalidomide orally on days 1-21 every 4 weeks...
August 17, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28815006/biomarkers-in-inflammometry-pediatric-asthma-utility-in-daily-clinical-practice
#16
REVIEW
Silvia Sánchez-García, Alicia Habernau Mena, Santiago Quirce
Asthma is a common disease in both high and lower income countries that starts early and persists often for life. A correct and accurate diagnosis, treatment and follow-up during childhood are essential for a better understanding of adult asthma and avoiding over- or under-treatment. Th2 inflammation in children with asthma symptoms is usually assessed by measuring with serum total IgE, blood eosinophilia and FeNO levels that may help to predict asthma, particularly in those infants and young children in whom lung function tests are difficult to perform...
2017: European Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28814619/time-use-patterns-and-health-related-quality-of-life-in-adolescents
#17
Monica Wong, Tim Olds, Lisa Gold, Kate Lycett, Dorothea Dumuid, Josh Muller, Fiona K Mensah, David Burgner, John B Carlin, Ben Edwards, Terence Dwyer, Peter Azzopardi, Melissa Wake
OBJECTIVES: To describe 24-hour time-use patterns and their association with health-related quality of life (HRQoL) in early adolescence. METHODS: The Child Health CheckPoint was a cross-sectional study nested between Waves 6 and 7 of the Longitudinal Study of Australian Children. The participants were 1455 11- to 12-year-olds (39% of Wave 6; 51% boys). The exposure was 24-hour time use measured across 259 activities using the Multimedia Activity Recall for Children and Adolescents...
June 1, 2017: Pediatrics
https://www.readbyqxmd.com/read/28812985/interventions-to-support-integrated-psychological-care-and-holistic-health-outcomes-in-paediatrics
#18
REVIEW
Roz Shafran, Sophie D Bennett, Mhairi McKenzie Smith
There are strong calls from many national and international bodies for there to be a 'holistic' and integrated approach to the understanding and management of psychological and physical health needs. Such holistic approaches are characterized by the treatment of the whole person, taking into account mental and social factors, rather than just the symptoms of a disease. Holistic approaches can impact on mental and physical health and are cost-effective. Several psychological interventions have demonstrated efficacy in improving holistic health outcomes, for example Cognitive Behaviour Therapy, Behavioural Therapies and Problem Solving Therapies...
August 16, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28812472/modifiable-risk-factors-associated-with-bronchiolitis
#19
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/28812324/parents-adverse-childhood-experiences-and-mental-health-screening-using-home-visiting-programs-a-pilot-study
#20
Katie Johnson, Alicia Woodward, Sadie Swenson, Christine Weis, Margene Gunderson, Marilyn Deling, Valeria Cristiani, Brian Lynch
BACKGROUND: Adverse childhood experiences (ACEs) are associated with adult high-risk behaviors and diseases. There is value in screening parents for ACEs given the repercussions parental ACEs may have on parenting behaviors and child development. The primary aim of this study was to assess the feasibility of parental ACE screening in the home setting. A secondary aim was to evaluate whether or not maternal ACEs correlated with maternal mental health measures. METHODS: Two home visiting programs that support early childhood development and conduct parental mental health screening implemented ACE screening for parents of infants <1 year of age...
August 15, 2017: Public Health Nursing
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