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https://www.readbyqxmd.com/read/29339661/a-novel-foxl2-mutation-implying-blepharophimosis-ptosis-epicanthus-inversus-syndrome-type-i
#1
Fang Li, Peiwei Chai, Jiayan Fan, Xi Wang, Wenjuan Lu, Jin Li, Shengfang Ge, Renbing Jia, He Zhang, Xianqun Fan
BACKGROUND/AIMS: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure (POF). Functional study of novel mutations is especially critical for female patients, as it may allow the prediction of infertility and early planning of an appropriate therapy. METHODS: A clinical and molecular genetic investigation was performed in all members of a Chinese family with BPES...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29338783/children-with-premature-pubarche-is-an-alterated-neonatal-17-ohp-screening-test-a-predictive-factor
#2
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot, Franco Antoniazzi
BACKGROUND: Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature pubarche. METHODS: We evaluated all infants born between 2001 and 2014 with premature pubarche...
January 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29338079/nutrition-delivery-and-growth-outcomes-in-infants-with-gastroschisis
#3
Charles R Hong, David Zurakowski, Brenna S Fullerton, Katelyn Ariagno, Tom Jaksic, Nilesh M Mehta
BACKGROUND: We aimed to describe nutrient intake and growth in infants with gastroschisis and identify factors associated with impaired growth. METHODS: Retrospective study of neonates who underwent gastroschisis repair from 2010 to 2015. Nutrient intake and weight-for-age z scores (WAZ) were recorded. RESULTS: Data from 60 eligible infants with median (Q1, Q3) gestational age of 36 weeks (35, 37) and birth weight 2418 g (2098, 2665) were analyzed...
January 8, 2018: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29334594/thoracic-aortic-aneurysm-in-patients-with-loss-of-function-filamin-a-mutations-clinical-characterization-genetics-and-recommendations
#4
Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Khalsa, Bernard Chang, Christopher A Walsh
The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29330030/health-impact-assessment-of-cycling-network-expansions-in-european-cities
#5
Natalie Mueller, David Rojas-Rueda, Maëlle Salmon, David Martinez, Albert Ambros, Christian Brand, Audrey de Nazelle, Evi Dons, Mailin Gaupp-Berghausen, Regine Gerike, Thomas Götschi, Francesco Iacorossi, Luc Int Panis, Sonja Kahlmeier, Elisabeth Raser, Mark Nieuwenhuijsen
We conducted a health impact assessment (HIA) of cycling network expansions in seven European cities. We modeled the association between cycling network length and cycling mode share and estimated health impacts of the expansion of cycling networks. First, we performed a non-linear least square regression to assess the relationship between cycling network length and cycling mode share for 167 European cities. Second, we conducted a quantitative HIA for the seven cities of different scenarios (S) assessing how an expansion of the cycling network [i...
January 9, 2018: Preventive Medicine
https://www.readbyqxmd.com/read/29324534/reproductive-outcomes-after-gestational-trophoblastic-neoplasia-a-comparison-between-single-agent-and-multiagent-chemotherapy-retrospective-analysis-from-the-mito-9-group
#6
Raffaella Cioffi, Alice Bergamini, Angiolo Gadducci, Gennaro Cormio, Veronica Giorgione, Micaela Petrone, Emanuela Rabaiotti, Francesca Pella, Massimo Candiani, Giorgia Mangili
OBJECTIVES: Gestational trophoblastic neoplasia affects women of reproductive age and is usually treated by chemotherapy. Major concerns related to chemotherapy in young women are the possible infertility, risk of early menopause, and teratogenic effects on subsequent pregnancies. The study's aim was to analyze menstrual and reproductive outcomes of women treated with single-agent versus multiagent chemotherapy for gestational trophoblastic neoplasia. METHODS: One-hundred fifty-one patients were treated...
January 10, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29324529/inappropriately-timed-pediatric-orthopaedic-referrals-from-the-emergency-department-result-in-unnecessary-appointments-and-financial-burden-for-patients
#7
Taylor J Jackson, Todd J Blumberg, Apurva S Shah, Wudbhav N Sankar
BACKGROUND: Musculoskeletal injuries are among the most common reasons for emergency department (ED) visits in the pediatric population. Many such injuries can be managed with a single follow-up outpatient visit. However, untimely (ie, premature) referrals by emergency physicians to orthopaedic surgeons are common and may inadvertently create need for a second visit, generating unnecessary expenditures. We sought to elucidate the cost of premature musculoskeletal follow-up visits to the patients, families, and the health care system...
January 10, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29322199/the-impact-of-socioeconomic-status-on-the-association-between-biomedical-and-psychosocial-well-being-and-all-cause-mortality-in-older-spanish-adults
#8
Joan Doménech-Abella, Jordi Mundó, Maria Victoria Moneta, Jaime Perales, José Luis Ayuso-Mateos, Marta Miret, Josep Maria Haro, Beatriz Olaya
PURPOSE: The aim of this paper was to analyze the effect of biomedical and psychosocial well-being, based on distinct successful aging models (SA), on time to mortality, and determine whether this effect was modified by socioeconomic status (SES) in a nationally representative sample of older Spanish adults. METHODS: Data were taken from a 3-year follow-up study with 2783 participants aged 50 or over. Vital status was ascertained using national registers or asking participants' relatives...
January 10, 2018: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/29320482/severe-retinopathy-of-prematurity-is-associated-with-reduced-cerebellar-and-brainstem-volumes-at-term-and-neurodevelopmental-deficits-at-two-years
#9
Femke J Drost, Kristin Keunen, Pim Moeskops, Nathalie H P Claessens, Femke van Kalken, Ivana Išgum, Elsbeth S M Voskuil-Kerkhof, Floris Groenendaal, Linda S de Vries, Manon J N L Benders, Jacqueline U M Termote
OBJECTIVE: To evaluate the association between severe retinopathy of prematurity (ROP), measures of brain morphology at term equivalent age (TEA) and neurodevelopmental outcome. PATIENTS AND METHODS: 18 infants with severe ROP (median gestational age (GA) 25.3 (range 24.6-25.9 weeks) were included in this retrospective case-control study. Each infant was matched to two extremely preterm control infants (n=36) by GA, birth weight, sex and brain injury. T2-weighted images were obtained on a 3T MRI at TEA...
January 10, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29318343/short-term-progression-of-cardiometabolic-risk-factors-in-relation-to-age-at-type-2-diabetes-diagnosis-a-longitudinal-observational-study-of-100-606-individuals-from-the-swedish-national-diabetes-register
#10
Andri O Steinarsson, Araz Rawshani, Soffia Gudbjörnsdottir, Stefan Franzén, Ann-Marie Svensson, Naveed Sattar
AIMS/HYPOTHESIS: The reasons underlying a greater association of premature mortality with early-onset type 2 diabetes relative to late-onset disease are unclear. We evaluated the clinical characteristics at type 2 diabetes diagnosis and the broad trajectories in cardiometabolic risk factors over the initial years following diagnosis in relation to age at diagnosis. METHODS: Our cohort consisted of 100,606 individuals with newly diagnosed type 2 diabetes enrolled in the Swedish National Diabetes Register from 2002 to 2012...
January 9, 2018: Diabetologia
https://www.readbyqxmd.com/read/29314779/respiratory-viral-infections-in-infancy-and-school-age-respiratory-outcomes-and-healthcare-costs
#11
Victoria MacBean, Simon B Drysdale, Muska N Yarzi, Janet L Peacock, Gerrard F Rafferty, Anne Greenough
OBJECTIVES: To determine the impact of viral lower respiratory tract infections (LRTIs) in infancy including rhinovirus (RV) and infancy respiratory syncytial virus (RSV), on school age pulmonary function and healthcare utilization in prematurely born children. WORKING HYPOTHESIS: School age respiratory outcomes would be worse and healthcare utilization greater in children who had viral LRTIs in infancy. STUDY DESIGN: Prospective study. SUBJECT SELECTION: A cohort of prematurely born children who had symptomatic LRTIs during infancy documented, was recalled...
January 4, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29314321/percutaneous-fetoscopic-closure-of-large-open-spina-bifida-using-a-bilaminar-skin-substitute
#12
Denise A Lapa Pedreira, Gregório L Acacio, Rodrigo T Gonçalves, Renato Augusto M Sá, Reynaldo A Brandt, Ramen Chmait, Eftichia Kontopoulos, Ruben A Quintero
OBJECTIVE: We have previously described our percutaneous fetoscopic technique for the treatment of open spina bifida (OSB). However, approximately 20-30% of OSB defects are too large to allow primary skin closure. We hereby describe a modification of our standard technique using a bilaminar skin substitute to allow closure of such large spinal defects. The aim of this study was to report our clinical experience with the use of a bilaminar skin substitute and a percutaneous fetoscopic technique for the prenatal closure of large spina bifida defects...
January 4, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29313560/surgical-closure-of-patent-ductus-arteriosus-in-extremely-low-birth-weight-infants-less-than-750-grams
#13
Tomasz Stankowski, Sleiman Sebastian Aboulhassan, Dirk Fritzsche, Marcin Misterski, Jakub Marczak, Anna Szymańska, Lukasz Szarpak, Cyprian Augustyn, Romuald Cichoń, Bartłomiej Perek
BACKGROUND: Patent ductus arteriosus (PDA) occurs more frequently in premature infants. Depending on the degree of prematurity, these children often have other serious comorbidities that could significantly impact on surgical outcome. AIM: This study aimed to evaluate clinical results of the surgical ligation of PDA in extremely low body weight preterm infants with birth weight below 750 grams and to identify risk factors of mortality. METHODS: A total of 31 preterm infants with birth weight below 750 grams and significant PDA were operated between 2006 and 2016 through posterolateral thoracotomy (n=16) or with the use of video-assisted thoracoscopic (VATS) method (n = 15)...
January 9, 2018: Kardiologia Polska
https://www.readbyqxmd.com/read/29310614/preterm-birth-and-the-timing-of-puberty-a-systematic-review
#14
Evlyn James, Claire L Wood, Harish Nair, Thomas C Williams
BACKGROUND: An estimated 11% of births occur preterm, and survival is improving. Early studies suggested an association between preterm birth and earlier puberty. Given the adverse outcomes associated with early puberty this could have significant public health implications. The objective of this review was to assess the timing of puberty after preterm birth. METHODS: Pubmed, Embase, Popline, Global Health and Global Health Library were searched using terms relating to "premature birth", "menarche", "puberty" and "follow up studies"...
January 8, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29306654/humoral-immune-response-to-measles-and-varicella-vaccination-in-former-very-low-birth-weight-preterm-infants
#15
Carolina Schlindwein Mariano Ferreira, Maria Cristina Abrão Aued Perin, Maria Isabel de Moraes-Pinto, Raquel Maria Simão-Gurge, Ana Lucia Goulart, Lily Yin Weckx, Amélia Miyashiro Nunes Dos Santos
INTRODUCTION: Immune response to vaccination in infants born prematurely may be lower than in infants born at full-term. Some clinical factors might be associated with humoral immune response. OBJECTIVES: The objectives of this study were to compare the immune response to measles and varicella vaccination in infants born prematurely with those born at full-term and to analyze factors associated with measles and varicella antibody levels. METHODS: Prospective study including two groups of infants aged 12 months...
January 4, 2018: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29305231/neurodevelopmental-outcomes-of-infants-born-at-29-weeks-of-gestation-admitted-to-canadian-neonatal-intensive-care-units-based-on-location-of-birth
#16
Reem Amer, Diane Moddemann, Mary Seshia, Ruben Alvaro, Anne Synnes, Kyong-Soon Lee, Shoo K Lee, Prakesh S Shah
OBJECTIVE: To compare mortality and neurodevelopmental outcomes of outborn and inborn preterm infants born at <29 weeks of gestation admitted to Canadian neonatal intensive care units (NICUs). STUDY DESIGN: Data were obtained from the Canadian Neonatal Network and Canadian Neonatal Follow-up Network databases for infants born at <29 weeks of gestation admitted to NICUs from April 2009 to September 2011. Rates of death, severe neurodevelopmental impairment (NDI), and overall NDI were compared between outborn and inborn infants at 18-21 months of age, corrected for prematurity...
January 3, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29303418/prosthetically-cad-cam-guided-bone-augmentation-of-atrophic-jaws-using-customized-titanium-mesh-preliminary-results-of-an-open-prospective-study
#17
Leonardo Ciocca, Giuseppe Lizio, Paolo Baldissara, Alessandro Sambuco, Roberto Scotti, Giuseppe Corinadesi
This study evaluated the outcomes of CAD-CAM customized titanium mesh used for prosthetically guided bone augmentation related to the occlusion driven implant position; to the vertical bone volume gain of mandible and maxilla; and to complications, like mesh exposure.. Nine patients scheduled for bone augmentation of atrophic sites were treated with custom titanium mesh and particulate bone grafts with autologous bone and anorganic bovine bone in a 1:1 ratio prior to implant surgery. The bone volume needed to augment was virtually projected based on implants position, width and length, and the mesh design was programmed for the necessary retaining screws...
January 5, 2018: Journal of Oral Implantology
https://www.readbyqxmd.com/read/29301823/fasting-glucose-and-all-cause-mortality-by-age-in-diabetes-a-prospective-cohort-study
#18
Sang-Wook Yi, Sangkyu Park, Yong-Ho Lee, Beverley Balkau, Jee-Jeon Yi
OBJECTIVE: To examine associations between fasting glucose and mortality and to identify the levels associated with lowest mortality by age in diabetes. RESEARCH DESIGN AND METHODS: A total of 359,645 Korean adults with known prevalent diabetes participated in health screening during 2001-2004 and were followed up until 2013. RESULTS: U-curve associations were found. Fasting glucose levels associated with the lowest mortality were ∼90-130 mg/dL, except for in those aged 18-44 years (∼80-95 mg/dL)...
January 4, 2018: Diabetes Care
https://www.readbyqxmd.com/read/29300975/new-application-of-dydrogesterone-as-a-part-of-a-progestin-primed-ovarian-stimulation-protocol-for-ivf-a-randomized-controlled-trial-including-516-first-ivf-icsi-cycles
#19
Sha Yu, Hui Long, Hannah Ya-Ning Chang, Yali Liu, Hongyuan Gao, Jing Zhu, Xinxin Quan, Qifeng Lyu, Yanping Kuang, Ai Ai
STUDY QUESTION: Can dydrogesterone (DYG) be used as an alternative progestin in a progesterone primed ovarian stimulation (PPOS) protocol? SUMMARY ANSWER: DYG can be used as an appropriate alternative progestin in a PPOS protocol. WHAT IS KNOWN ALREADY: PPOS is a new ovarian stimulation regimen based on a freeze-all strategy that uses progestin as an alternative to a GnRH analog for suppressing a premature LH surge during the follicular phase...
December 29, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29298856/persistent-pulmonary-hypertension-of-the-newborn-in-extremely-preterm-infants-a-japanese-cohort-study
#20
Hidehiko Nakanishi, Hideyo Suenaga, Atsushi Uchiyama, Satoshi Kusuda
OBJECTIVE: To investigate the characteristics of persistent pulmonary hypertension of the newborn (PPHN) in extremely preterm infants and its impact on neurodevelopmental outcomes at 3 years of age. DESIGN: A retrospective multicentre cohort study. SETTINGS: 202 tertiary perinatal centres registered in the Neonatal Research Network of Japan (NRNJ). PATIENTS: Infants born at <28 weeks of gestational age (GA), between 2003 and 2012, were extracted from tertiary perinatal centres participating in NRNJ...
January 3, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
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