A5053931124- Intestinal Malrotation and Obstruction Disorders
- Esophageal and GI Pathology
- Neonatal Respiratory Health Research
- Infant Nutrition and Health
- Intestinal and Peritoneal Adhesions
- Genomics and Rare Diseases
- Glycogen Storage Diseases and Myoclonus
- Congenital Anomalies and Fetal Surgery
- Tracheal and airway disorders
- Congenital Heart Disease Studies
- Clinical practice guidelines implementation
- Meta-analysis and systematic reviews
- Skin and Cellular Biology Research
- Carbohydrate Chemistry and Synthesis
- Gastroesophageal reflux and treatments
- Cell Adhesion Molecules Research
- Genetic Syndromes and Imprinting
- Neonatal Health and Biochemistry
- Lysosomal Storage Disorders Research
- Folate and B Vitamins Research
- Urological Disorders and Treatments
- Abdominal Surgery and Complications
- Metabolism and Genetic Disorders
- Cardiac electrophysiology and arrhythmias
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
Wadsworth Center
2024
New York State Department of Health
2017-2024
New York State Department of State
2024
Screen
2024
St George’s University Hospitals NHS Foundation Trust
2015-2021
Oklahoma State University Center for Health Sciences
2018
University of Glasgow
2017
Glasgow Royal Infirmary
2017
National Health Service
2016
St George's Hospital
2012-2016
Small bowel atresia (SBA) is one of the most common causes congenital intestinal obstruction. However, accuracy prenatal ultrasound in diagnosing this condition has not been entirely ascertained. The aim study was to analyse predictive detecting SBA prenatally.Retrospective all cases with suspicion or postnatal confirmed seen a tertiary fetal medicine and pediatric surgery units from 2007 2013. Cases duodenal were excluded study. different signs, alone combination, calculated.65 fetuses...
Abstract A herd of cattle which produces calves with generalised glycogenosis type II has been established. Seven affected animals have born and their disease status as indicated by a decreased acid α‐glucosidase activity excessive glycogen deposition in muscle, can be detected on the day birth. Two died heart failure aged 3 5 months shown cardiomegally. Five were clinically normal until 9 age when they failed to maintain weight gain, showed muscle weakness four killed between 12 16 after...
Surgical site infection (SSI) is a key performance indicator to assess the quality of surgical care. Incidence and risk factors for SSI in neonatal surgery are lacking literature. To define incidence possible tertiary centre. This prospective cohort study all neonates who underwent abdominal thoracic between March 2012 October 2016. The variables analyzed were gender, gestational age, birth weight, age at surgery, preoperative stay intensive care unit, type length stay, microorganisms...
Coagulopathy and mesenteric thrombosis are common in premature neonates with necrotizing enterocolitis (NEC). This pilot study aimed to investigate the hypothesis that there changes gene expression related coagulation anticoagulation systems NEC.Consecutive (n = 11) NEC (Bell stages 2-3) were recruited. Two comparison groups, matched for birth weight corrected gestational age, selected based on absence of inflammation coagulopathy (healthy control, n 10), or presence a confirmed blood...
A male infant presented with drooling of saliva at birth. There was an antenatal history polyhydramnios. Oesophageal atresia and tracheoesophageal fistula (OA/TOF) were confirmed by the coiled nasogastric tube on chest X-ray. Skin persistently marbled, regardless temperature, in keeping cutis marmorata telangiectatica congenita (CMTC). The second to fifth toes absent bilaterally; left great toe hypoplastic (figure 1). Dilated tortuous veins areas skin, aplasia (ACC), evident scalp 2). Atrial...
Classic homocystinuria (HCU) is a rare genetic disorder of methionine metabolism caused by the reduced activity enzyme cystathionine beta-synthase (CBS), with an estimated incidence 1 in 200,000 to 335,000 worldwide. The clinical presentations HCU include skeletal abnormalities, ectopia lentis, thromboembolism, and developmental delay/intellectual disability. New York State Newborn Screening Program introduced mass spectrometry screen for October 2002 via measurement levels.
The American College of Medical Genetics and Genomics (ACMG) the National Coordinating Center for Regional Networks (NCC)-developed ACT sheets are a vital resource state newborn screening (NBS) programs. They allow NBS programs to be able provide up-to-date, just-in-time disorder information primary care providers (PCPs). Their continued availability is necessary ensure that all babies identified by receive appropriate evaluation care.
Heterotaxy syndrome, being right atrial isomerism (RAI) or left (LAI), often presents with Congenital Heart Disease (CHD). Intestinal abnormalities, including malrotation are common. We assessed the spectrum of gut abnormalities and their impact on medium-term outcome in a cohort patients fetal postnatal diagnoses heterotaxy syndrome.We reviewed cardiology records syndrome from two centres, regarding presence CHD, time for cardiac intervention, gastrointestinal type/time surgery. A...
The accuracy of US in diagnosing small bowel atresia (SBA) has not been entirely ascertained. aim this study is to explore the predictive ultrasound detecting SBA prenatally. and different signs, alone combination, was calculated term sensitivity, specificity, positive PPV, NPV, +LR, -LR diagnostic odd ratio. Receiver operating characteristic (ROC) curve analysis used assess performance dilatation prediction these disorders. Predictive presence poor, with a sensitivity 50% specificity...
<h3>Introduction</h3> Necrotising enterocolitis (NEC) remains a serious complication of prematurity. NEC is associated with multiple factors. Recently concerns have been raised that transfusion related gut injury (TRAGI) may lead to development. <h3>Aim</h3> To identify if blood implicated in the development our population. <h3>Methods</h3> Data collection from infants treated for definite two tertiary surgical neonatal units. <h3>Results</h3> 49 developed NEC. GA: ≤24 wks 16%, 25–26 27–29...
Inflammatory Bowel Diseases (IBDs) are clinically heterogeneous intestinal diseases characterized by damage to the epithelium and chronic inflammation of ileum colon. Data from our laboratory those others have led hypothesis that meprins, metalloproteases epithelial cells leukocytes, an active role in pathogenesis IBDs. To study meprins vivo, meprin α knockout (KO) mice were generated targeted disruption Mep-1α gene, on chromosome 17. The results indicate αKO (on C57BL/6x129J background)...
Objectives: The objectives for this study were to identify research gaps and excesses in minimally invasive gynecologic surgery (MIGS) using Levels A- C-rated clinical practice guideline (CPG) recommendations determine the extent which new ongoing studies are adhering recommendations. Materials Methods: This was a cross-sectional of ClinicalTrials.gov World Health Organization International Clinical Trial Registry Platform Methods. Level A C from American Association Gynecologic...
ABSTRACT Objective Heterotaxy syndrome (HS), being right atrial isomerism (RAI) or left (LAI) often presents with congenital heart disease (CHD). Intestinal abnormalities including malrotation are common. We aim to assess the impact of gut on outcome in HS. Methods reviewed cardiology records HS patients regarding presence CHD, time for cardiac intervention, gastrointestinal (GI) and type/time surgery. A questionnaire about GI status was sent <18 years old. Kaplan-Meier curves were...