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https://www.readbyqxmd.com/read/28646443/recent-discoveries-in-monogenic-disorders-of-childhood-bone-fragility
#1
REVIEW
Riikka E Mäkitie, Anders J Kämpe, Fulya Taylan, Outi Mäkitie
PURPOSE OF REVIEW: This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings. RECENT FINDINGS: Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function...
June 23, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28645868/natural-history-of-contralateral-hypertrophy-in-patients-with-multicystic-dysplastic-kidneys
#2
Thomas W Gaither, Ankur Patel, Chandni Patel, Kai-Wen Chuang, Ronald A Cohen, Laurence S Baskin
PURPOSE: To evaluate predictive factors for compensatory hypertrophy and renal outcomes in a large cohort of patients with multicystic dysplastic kidneys (MCDK). MATERIALS AND METHODS: We conducted a retrospective review from 1997 to 2016. Contralateral kidney and MCDK length were recorded from all ultrasounds as well as creatinine when available. We used generalized estimating equations to determine predictors of contralateral kidney length. RESULTS: 443 children with MCDK were identified based on sonographic finding and lack of function on nuclear scan...
June 20, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28645262/acute-myeloid-leukemia-and-pregnancy-clinical-experience-from-a-single-center-and-a-review-of-the-literature
#3
Nicola Stefano Fracchiolla, Mariarita Sciumè, Francesco Dambrosi, Francesca Guidotti, Manuela Wally Ossola, Giovanna Chidini, Umberto Gianelli, Daniela Merlo, Agostino Cortelezzi
BACKGROUND: Acute myeloid leukemia (AML) accounts for more than two thirds of leukemia during pregnancy and has an incidence of 1 in 75,000 to 100,000. Its clinical management remains a challenging therapeutic task both for patient and medical team, given to the therapy-attributable risks for mother and fetus and the connected counseling regarding pregnancy continuation. METHODS: We provided a review of updated literature and a comprehensive description of five maternal/fetal outcomes of AML cases diagnosed concomitantly to pregnancy and treated at our Institution from 2006 to 2012...
June 23, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28645027/validity-of-the-growth-model-of-the-computerized-visual-perception-assessment-tool-for-chinese-characters-structures
#4
Huey-Min Wu, Cheng-Hsaun Li, Bor-Chen Kuo, Yu-Mao Yang, Chin-Kai Lin, Wei-Hsiang Wan
Morphological awareness is the foundation for the important developmental skills involved with vocabulary, as well as understanding the meaning of words, orthographic knowledge, reading, and writing. Visual perception of space and radicals in two-dimensional positions of Chinese characters' morphology is very important in identifying Chinese characters. The important predictive variables of special and visual perception in Chinese characters identification were investigated in the growth model in this research...
June 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28644755/a-contemporary-examination-of-first-and-second-permanent-molar-emergence
#5
B T Pahel, W F Vann, K Divaris, R G Rozier
The emergence of first permanent molars (FPMs) and second permanent molars (SPMs) is an important developmental milestone influencing caries risk and the timing of sealant placement. Emergence times have been shown to vary by sex and race/ethnicity, while recent reports suggest a positive association with adiposity. Amid the changing demographics of the US population and the rising rates of pediatric overweight/obesity, we sought to examine the association of body mass index (BMI) with FPM/SPM emergence in a representative sample of US children and adolescents...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28644566/clinical-characteristics-and-outcome-of-liver-transplantation-for-alagille-syndrome-in-children
#6
Tao Zhou, Jianjun Zhang, Yi Luo, Yuan Liu, Sy Zhuang, Feng Xue, Longzhi Han, Qiang Xia
AIM: The aim of this study was to analyze clinical characteristics and outcome of liver transplantation for Alagille syndrome in children. METHOD: By retrospectively reviewing the medical records of 9 Alagille syndrome patients(AGS) with liver transplantation(LT) in Renji Hospital between 2006 and 2015,After operative,the height and weight Z score were compared with preoperative. RESULT: There were 9 patients included in the study; cholestasis and peculiar faces were seen in all of the patients (100%), heart defect in 8 patients (88...
June 23, 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28644348/biomarkers-of-environmental-enteric-dysfunction-among-children-in-rural-bangladesh
#7
Rebecca K Campbell, Kerry J Schulze, Saijuddin Shaikh, Sucheta Mehra, Hasmot Ali, Lee Wu, Rubhana Raqib, Sarah Baker, Alain Labrique, Keith P West, Parul Christian
OBJECTIVES: Environmental enteric dysfunction (EED) may inhibit growth and development in low- and middle-income countries, but available assessment methodologies limit its study. In rural Bangladesh, we measured EED using the widely used lactulose mannitol ratio (L:M) test and a panel of intestinal and systemic health biomarkers to evaluate convergence among biomarkers and describe risk factors for EED. METHODS: In 539 18-month-old children finishing participation in a randomized food supplementation trial, serum, stool, and urine collected after lactulose and mannitol dosing were analyzed for biomarkers of intestinal absorption, inflammation, permeability and repair, and systemic inflammation...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28644347/age-and-sex-normalization-of-intestinal-permeability-measures-for-the-improved-assessment-of-enteropathy-in-infancy-and-early-childhood-results-from-the-mal-ed-study
#8
Margaret N Kosek, Gwenyth O Lee, Richard L Guerrant, Rashidul Haque, Gagandeep Kang, Tahmeed Ahmed, Pascal Bessong, Asad Ali, Estomih Mduma, Pablo Peñataro Yori, William A Faubion, Aldo A M Lima, Maribel Paredes Olortegui, Carl Mason, Sudhir Babji, Ravinder Singh, Shahida Qureshi, Peter S Kosek, Amidou Samie, John Pascal, Sanjaya Shrestha, Benjamin J J McCormick, Jessica C Seidman, Dennis R Lang, Anita Zaidi, Laura E Caulfield, Michael Gottlieb
OBJECTIVES: The aim of the study was to describe changes in intestinal permeability in early childhood in diverse epidemiologic settings. METHODS: In a birth cohort study, the lactulose:mannitol (L:M) test was administered to 1980 children at 4 time points in the first 24 months of life in 8 countries. Data from the Brazil site with an incidence of diarrhea similar to that seen in the United States and no growth faltering was used as an internal study reference to derive age- and sex-specific z scores for mannitol and lactulose recoveries and the L:M ratio...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28643781/recurrent-mutation-of-igf-signalling-genes-and-distinct-patterns-of-genomic-rearrangement-in-osteosarcoma
#9
Sam Behjati, Patrick S Tarpey, Kerstin Haase, Hongtao Ye, Matthew D Young, Ludmil B Alexandrov, Sarah J Farndon, Grace Collord, David C Wedge, Inigo Martincorena, Susanna L Cooke, Helen Davies, William Mifsud, Mathias Lidgren, Sancha Martin, Calli Latimer, Mark Maddison, Adam P Butler, Jon W Teague, Nischalan Pillay, Adam Shlien, Ultan McDermott, P Andrew Futreal, Daniel Baumhoer, Olga Zaikova, Bodil Bjerkehagen, Ola Myklebost, M Fernanda Amary, Roberto Tirabosco, Peter Van Loo, Michael R Stratton, Adrienne M Flanagan, Peter J Campbell
Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, we present the largest sequencing study of osteosarcoma to date, comprising 112 childhood and adult tumours encompassing all major histological subtypes. A key finding of our study is the identification of mutations in insulin-like growth factor (IGF) signalling genes in 8/112 (7%) of cases. We validate this observation using fluorescence in situ hybridization (FISH) in an additional 87 osteosarcomas, with IGF1 receptor (IGF1R) amplification observed in 14% of tumours...
June 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28643234/body-mass-disorders-in-healthy-short-children-and-in-children-with-growth-hormone-deficiency
#10
Paweł Tomaszewski, Katarzyna Milde, Anna Majcher, Beata Pyrżak, Gul Tiryaki-Sonmez, Brad J Schoenfeld
The aim of the study was to determine the degree of adiposity and the incidence of body mass disorders, including abdominal obesity, in healthy short children and children with growth hormone deficiency. The study included 134 short children (height < 10th percentile) aged 7-15. In this cohort there were 63 (31 boys and 32 girls) children without diagnosed hormonal disorders and 71 patients (35 boys and 36 girls) with growth hormone deficiency. Basic somatic features were assessed and the study participants were categorized according to the percentage of body fat (%FAT), body mass index (BMI), and waist-to-height ratio (WHtR)...
June 23, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28643220/denosumab-an-emerging-therapy-in-pediatric-bone-disorders
#11
REVIEW
Alison M Boyce
PURPOSE OF REVIEW: Denosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand (RANKL), and has emerged as an important novel therapy for skeletal disorders. This article examines the use of denosumab in children. RECENT FINDINGS: Considerable safety and efficacy data exists for denosumab treatment of adults with osteoporosis, bone metastases, and giant cell tumors. Pediatric data is limited; however, evidence suggests denosumab may be beneficial in decreasing bone turnover, increasing bone density, and preventing growth of certain skeletal neoplasms in children...
June 22, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28643207/parental-depressive-symptoms-as-a-predictor-of-outcome-in-the-treatment-of-child-depression
#12
Dikla Eckshtain, Lauren Krumholz Marchette, Jessica Schleider, John R Weisz
Child depression is an impairing condition for which psychotherapies have shown modest effects. Parental depression is a risk factor for development of child depression and might also be negatively associated with child depression treatment outcomes. To explore this possibility, we analyzed data from a study in which children were treated for depression after parental depressive symptoms had been assessed at baseline. Among children treated for depression in a randomized controlled trial, we identified 31 who had child- and parent-report pre- and post-treatment data on child symptoms and parent-report of pre-treatment parental depressive symptoms...
June 23, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28642749/rna-seq-reveals-enhanced-sugar-metabolism-in-streptococcus-mutans-co-cultured-with-candida-albicans-within-mixed-species-biofilms
#13
Jinzhi He, Dongyeop Kim, Xuedong Zhou, Sang-Joon Ahn, Robert A Burne, Vincent P Richards, Hyun Koo
Early childhood caries (ECC), which can lead to rampant tooth-decay that is painful and costly to treat, is one of the most prevalent infectious diseases affecting children worldwide. Previous studies support that interactions between Streptococcus mutans and Candida albicans are associated with the pathogenesis of ECC. The presence of Candida enhances S. mutans growth, fitness and accumulation within biofilms in vitro, although the molecular basis for these behaviors is undefined. Using an established co-cultivation biofilm model and RNA-Seq, we investigated how C...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28641585/cancer-bereaved-siblings-positive-and-negative-memories-and-experiences-of-illness-and-death-a-nationwide-follow-up
#14
Mary-Elizabeth Bradley Eilertsen, Malin Lövgren, Alexandra Eilegård Wallin, Ulrika Kreicbergs
OBJECTIVE: Our aim was to explore bereaved siblings' positive and negative memories and experiences of their brother's or sister's illness and death. METHOD: In our nationwide Swedish study, 174 of 240 (73%) bereaved siblings participated, and 70% responded to two open-ended statements, which focused on siblings' positive and negative memories and experiences of illness and death. The data were analyzed using systematic text condensation. RESULTS: The bereaved siblings' responses were categorized into four different themes: (1) endurance versus vulnerability, (2) family cohesion versus family conflicts, (3) growth versus stagnation, and (4) professional support versus lack of professional support...
June 23, 2017: Palliative & Supportive Care
https://www.readbyqxmd.com/read/28640700/cns-tumors-in-neurofibromatosis
#15
Jian Campian, David H Gutmann
Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2...
June 22, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28640379/comparative-and-correlative-assessments-of-cytokine-complement-and-antibody-patterns-in-pediatric-type-1-diabetes
#16
M Abdel-Latif, A A Abdel-Moneim, M H El-Hefnawy, R G Khalil
One of the most widespread and effective environmental factors is the infection with enteroviruses (EVs) which accelerate β - cell destruction in type 1 diabetes (T1D). This study represented a comparison between diabetic EV(+) and EV- children as well as correlation analysis between autoantibodies, T1D markers, cytokines, complement activation products and anti- coxsackievirus (CV) IgG. EV RNA was detected in Egyptian children with T1D (26.2%) and healthy controls (0%). Detection of anti - CV IgG in T1D - EV(+) resulted in 64% positivity...
June 22, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28639991/evaluation-of-a-nutritional-support-intervention-in-malnourished-hiv-infected-children-in-bamako-mali
#17
Julie Jesson, Aba Coulibaly, Mariam Sylla, Clémentine N'diaye, Fatoumata Dicko, David Masson, Valériane Leroy
BACKGROUND: We assessed a nutritional support intervention in malnourished HIV-infected children in a HIV-care program of the University Hospital Gabriel Touré, Bamako, Mali. METHODS: All HIV-infected children <15 years were diagnosed for malnutrition between 07 and 12/2014. Malnutrition was defined according to the WHO growth standards with Z-scores. Two types were studied: acute malnutrition (AM) and chronic malnutrition (CM). All participants were enrolled in a 6-month prospective interventional cohort, receiving Ready-To-Use Therapeutic Food, according to type of malnutrition...
June 19, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28639852/osteochondritis-dissecans-etiology-pathology-and-imaging-with-a-special-focus-on-the-knee-joint
#18
Juergen Bruns, Mathias Werner, Christian Habermann
This article is a review of the current understanding of the etiology, pathogenesis, and how to diagnose and treat knee osteochondritis dissecans (OCD) followed by an analysis of and outcomes of the treatments available. OCD is seen in children and adolescents with open growth plates (juvenile OCD) and adults with closed growth plates (adult OCD). The etiology of OCD lesions remains unclear and is characterized by an aseptic necrosis in the subchondral bone area. Mechanical factors seem to play an important role...
June 1, 2017: Cartilage
https://www.readbyqxmd.com/read/28639152/influence-of-muscle-groups-activation-on-proximal-femoral-growth-tendency
#19
Priti Yadav, Sandra J Shefelbine, Eva Pontén, Elena M Gutierrez-Farewik
Muscle and joint contact force influence stresses at the proximal growth plate of the femur and thus bone growth, affecting the neck shaft angle (NSA) and femoral anteversion (FA). This study aims to illustrate how different muscle groups' activation during gait affects NSA and FA development in able-bodied children. Subject-specific femur models were developed for three able-bodied children (ages 6, 7, and 11 years) using magnetic resonance images. Contributions of different muscle groups-hip flexors, hip extensors, hip adductors, hip abductors, and knee extensors-to overall hip contact force were computed...
June 22, 2017: Biomechanics and Modeling in Mechanobiology
https://www.readbyqxmd.com/read/28638969/introduction-childhood-and-disability
#20
EDITORIAL
Erica K Salter
From growth attenuation therapy for severely developmentally disabled children to the post-natal management of infants with trisomy 13 and 18, pediatric treatment decisions regularly involve assessments of the probability and severity of a child's disability. Because these decisions are almost always made by surrogate decision-makers (parents and caregivers) and because these decision-makers must often make decisions based on both prognostic guesses and potentially biased quality of life judgments, they are among the most ethically complex in pediatric care...
June 21, 2017: HEC Forum: An Interdisciplinary Journal on Hospitals' Ethical and Legal Issues
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