Biomedical subjects

Caroline May

Publications and source records attributed to Caroline May.

4 recordsLinked to original sources

PubMed2024

Genetic and functional analyses of CTBP2 in anorexia nervosa and body weight regulation.

The C-terminal binding protein 2 (CTBP2) gene (translational isoforms: CTBP2-L/S, RIBEYE) had been identified by a cross-trait analysis of genome-wide association studies for anorexia nervosa (AN) and body mass index (BMI). Here, we did a mutation analysis in CTBP2 by performing polymerase chain reactions with subsequent Sanger-sequencing to identify variants relevant for AN and body weight regulation and ensued functional studies. Analysis of the coding regions of CTBP2 in 462 female patients with AN (acute or recovered), 490 children and adolescents with severe obesity, 445 healthy-lean adult individuals and 168 healthy adult individuals with normal body weight detected 24 variants located in the specific exon of RIBEYE. In the initial analysis, three of these were rare non-synonymous variants (NSVs) detected heterozygously in patients with AN (p.Arg72Trp - rs146900874; p.Val289Met -rs375685611 and p.Gly362Arg - rs202010294). Four NSVs and one heterozygous frameshift variant were exclusively detected in children and adolescents with severe obesity (p.Pro53Ser - rs150867595; p.Gln175ArgfsTer45 - rs141864737; p.Leu310Val - rs769811964; p.Pro397Ala - rs76134089 and p.Pro402Ser - rs113477585). Ribeye mRNA was detected in mouse hypothalamus. No effect of fasting or overfeeding on murine hypothalamic Ribeye expression was determined. Yet, increased Ribeye expression was detected in hypothalami of leptin-treated Lepob/ob mice. This increase was not related to reduced food intake and leptin-induced weight loss. We detected rare and frequent variants in the RIBEYE specific exon in both patients with AN and in children and adolescents with severe obesity. Our data suggest RIBEYE as a relevant gene for weight regulation.

Humans↗

PubMed2006

Survey of sleeping position recommendations for prematurely born infants on neonatal intensive care unit discharge.

INTRODUCTION: Prematurely born infants are at an increased risk of sudden infant death syndrome (SIDS), particularly when sleeping prone. Parents are strongly influenced in their choice of sleeping position for their infant by practitioners. The aim of this study was to determine the neonatal units' recommendations regarding the sleeping position for premature infants prior to and after discharge and ascertain whether there had been changes from those recorded in a survey performed in 2001-2002. MATERIALS AND METHODS: A questionnaire survey was sent to all 229 neonatal units in the United Kingdom; 80% responded. RESULTS AND DISCUSSION: The majority (83%) of units utilized the supine sleep position for infants at least 1-2 weeks prior to discharge, but after discharge, only 38% of the units actively discouraged prone sleeping and 17% additionally recommended side sleeping. Compared to the previous survey, significantly more units started infants with supine sleeping 1-2 weeks prior to discharge (p < 0.0001) and fewer recommended side sleeping after discharge (p = 0.0015). However, disappointingly, less actively discouraged prone sleeping after discharge (p = 0.0001). CONCLUSION: Recommendations regarding sleeping position for prematurely born infants after neonatal discharge by some practitioners remain inappropriate. Evidence-based guidelines are required as these would hopefully inform all neonatal units' recommendations.

Adult↗

PubMed2006

A scoring system to predict chronic oxygen dependency.

INTRODUCTION: Chronic oxygen dependency (COD) is a common adverse outcome of very premature birth. It is, therefore, important to develop an accurate and simple predictive test to facilitate targeting of interventions to prevent COD. Our aim was to determine if a simple score based on respiratory support requirements predicted COD development. METHODS: A retrospective study of 136 infants, median gestation age (GA) 28 weeks (range: 23-33 weeks) and a prospective study of 75 infants, median GA 30 weeks (range: 23-32 weeks), were performed. The score was calculated by multiplying the inspired oxygen concentration by the level of respiratory support (mechanical ventilation: 2.5; continuous positive airway pressure: 1.5; nasal cannula or head box oxygen or air: 1.0). Scores were calculated on data from days 2 and 7, and their predictive ability compared to that of the maximum inspired oxygen concentration at those ages and (retrospective study) the results of lung volume measurement. RESULTS: Infants that were oxygen dependent at 28 days and 36 weeks post-menstrual age (PMA) had higher scores on days 2 (p<0.0001, p<0.0001, respectively) and 7 (p<0.0001, p<0.0001, respectively) than the non-oxygen dependent infants in both the retrospective and prospective cohorts. Construction of receiver operator characteristic curves demonstrated the score performed better than the inspired oxygen level and lung volume measurement results. A score on day 7 >0.323 had 95% specificity and 78% sensitivity in predicting COD at 28 days, and 80% specificity and 73% sensitivity in predicting COD at 36 weeks PMA. CONCLUSION: Chronic oxygen dependency can be predicted using a simple scoring system.

Bronchopulmonary Dysplasia↗

PubMed2002

Outcome of expectant management of spontaneous first trimester miscarriage: observational study.

OBJECTIVES: To evaluate the uptake and outcome of expectant management of spontaneous first trimester miscarriage in an early pregnancy assessment unit. PARTICIPANTS: 1096 consecutive patients with a diagnosis of spontaneous first trimester miscarriage. METHODS: Each miscarriage was classified as complete, incomplete, missed, or anembryonic on the basis of ultrasonography. Women who needed treatment were given the choice of expectant management or surgical evacuation of retained products of conception under general anaesthesia. Women undergoing expectant management were checked a few days after transvaginal bleeding had stopped, or they were monitored at weekly intervals for four weeks. MAIN OUTCOME MEASURES: A complete miscarriage (absence of transvaginal bleeding and endometrial thickness <15 mm), the number of women completing their miscarriage within each week of management, and complications (excessive pain or transvaginal bleeding necessitating hospital admission or clinical evidence of infection). RESULTS: Two patients with molar pregnancies were excluded, and 37% of the remainder (408/1094) were classified as having had a complete miscarriage. 70% (478/686) of women with retained products of conception chose expectant management; of these, 27 (6%) were lost to follow up. A successful outcome without surgical intervention was seen in 81% of cases (367/451). The rate of spontaneous completion was 91% (201/221) for those cases classified as incomplete miscarriage, 76% (105/138) for missed miscarriage, and 66% (61/92) for anembryonic pregnancy. 70% of women completed their miscarriage within 14 days of classification (84% for incomplete miscarriage and 52% for missed miscarriage and anembryonic pregnancy). CONCLUSIONS: Most women with retained products of conception chose expectant management. Ultrasonography can be used to advise patients on the likelihood that their miscarriage will complete spontaneously within a given time.

Abortion, Incomplete↗