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Diagnostik und Klinisches Management
Praxismanual mit Protokollen für Ärzte und Hebammen sowie Informationsblättern für werdende Eltern

Abstract

Over the last 50 years, there has been a steady decline in fertility rates in humans, which has occurred in parallel with an increasing incidence of obesity and metabolic disorders. The potential impact of these disorders and plausible mechanisms by which they negatively influence male reproduction are only partly understood and published data are often controversial. Obesity is one of the most important health challenges worldwide and is becoming more prevalent in children and adolescents. Obesity, the metabolic syndrome and related co-morbidities can lead to impaired male reproductive function, including adverse effects on spermatogenesis and steroidogenesis as illustrated by reduced sperm number and quality, decreased testosterone levels and elevated inflammatory markers. The incidence of diabetes mellitus type I is also dramatically increasing and may negatively impact spermatogenesis and testicular function, resulting in decreased serum testosterone and epididymal weight. In this review, we summarize and discuss the effects of metabolic diseases that typically develop during childhood and adolescence on later reproductive function and fertility. While impact on reproductive health is likely observed in both sexes, we have chosen to focus on the male in the current review. Specifically, we illustrate adverse effects of obesity, type 1 diabetes, the metabolic syndrome and insulin resistance on sperm function and testosterone metabolism. Identification of pathophysiological mechanisms during childhood may open up new avenues for early prevention and treatment resulting in better reproductive outcomes and improved fertility rates during adulthood.

Abstract

Objectives

Adolescent overweight and obesity is a public health concern globally, especially in lower- and middle- income countries where there is an additional burden of undernutrition. The prevalence of adolescent overweight/2obesity has increased markedly over the past three decades. The transition in dietary habits coupled with reduced physical activity has been blamed for the increasing trend. Overweight/obesity in adolescence is complicated by cardiometabolic, respiratory, musculoskeletal and psychosocial disorders. Additionally, adolescent obesity is a predictor of future development of type 2 diabetes, cardiovascular diseases and metabolic disorders. The burden of cardiometabolic risk factors associated with adolescent overweight/obesity in Ghana is lacking, the project, therefore, was undertaken to add to the existing knowledge.

Methods

The study was undertaken in adolescent students of a tertiary institution in Ghana. Two hundred and one students consented to participate in the study. Questionnaires on sociodemographic characteristics, dietary and substance abuse habits were self-administered. Blood pressure, height, weight and waist circumference measures were performed and venous blood drawn for the determination of fasting serum total/LDL/HDL cholesterol and triglycerides. Body mass indices were determined as the weight per square of their heights.

Results

The prevalence of obesity was determined to be 15.81% generally, 27.71% in the females and 7.08% in the males. Diastolic blood pressure was the only cardiometabolic risk factor significantly associated with obesity in our study.

Conclusion

Overweight/obesity is common in Ghanaian adolescents, with the prevalence highest in the female population.

Abstract

The aim of this systematic review was to identify and summarize evidence for the association between muscle strength (MS) and metabolic syndrome (MetS), and MS and combinations of risk factors for MetS in children and adolescents. Five databases (Medline/PubMed, EBSCO, Scielo, Scopus, and Web of Knowledge) were searched up to November 2019 with complementary reference list searches. Inclusion criteria were studies that investigated the relationship between MS and MetS or MS and combinations of risk factors for MetS in children and adolescents (≤19 years of age). Risk of bias was assessed using standard procedures. From the total of 15,599 articles initially identified, 13 articles were included, representing 11,641 children and adolescents. Higher MS values were associated with lower risk for MetS or combinations of risk factors for MetS (n=11/13 studies). Of the total of included studies, about 23.1% (03/13) were longitudinal and all included studies were classified as having a moderate risk of bias. This review provides preliminary evidence for a beneficial relationship between MS and MetS among children and adolescents. Additionally, although the body of evidence points to the beneficial relationship between higher MS and lower risk for combination of factors for MetS in children and adolescents, this relationship is inconclusive.

Abstract

Objectives

There has been a recent worldwide outbreak of coronavirus disease (COVID-19). Most of the health system capacity has been directed to COVID-19 patients, and routine outpatient clinics have been suspended. Chronic disease patients, such as inherited metabolic disorders (IMD), have had trouble accessing healthcare services.

Methods

An online cross-sectional survey was conducted among patients with IMDs who were present for a follow-up at our clinic to address their problems during pandemic period. Our clinic’s Instagram and Facebook accounts were used to invite the participants. Three reminders were given between May 1, 2020, and May 30, 2020. Survey questions were analyzed using descriptive statics.

Results

A total of 213 patients completed our survey. Incomplete surveys were excluded, and 175 questionnaires were evaluated. Most of patients had a special diet, and 51% of them had some difficulty with their diet. The reported rate of using a special treatment was 38%, and most of these patients (91%) had no problem receiving these special therapies during this time. Parents who were wearing masks while caring for their child were very few (17%), but a vast majority of parents (73.7%) had high handwashing rates. None of the patients had a SARS-COV2 infection until this paper was written.

Conclusion

This is the first study that aims to determine the problems faced by patients with IMD during the COVİD-19 period. Considering that the pandemic will not immediately pass, recognizing the problems faced by patients with chronic diseases and developing solutions would help these patients avoid long-term damage.

Abstract

Objectives

To study the clinical and laboratory features, management, and outcome of pediatric non-diabetic ketoacidosis (NDKA).

Methods

Between May 2018 and April 2020, we prospectively collected children under 18 years who presented with ketoacidosis, defined as ketosis (urinary ketones ≥++ and/or serum β-hydroxybutyrate level ≥3 mmol/L) and metabolic acidosis (pH <7.3 and HCO3 <15 mmol/L). Children with HbA1c level ≥6.5% at initial presentation and those meeting the diagnostic criteria for DM during follow-up were excluded. Data were collected on demographics, clinical and laboratory features, management, and outcome.

Results

Eleven children with 19 episodes of NDKA were identified. The median age was 12 months (range from 5 months to 5 years). They manifested dehydration and disturbed conscious level (all cases), convulsions (n=6), hypoglycemia (n=6), hyperglycemia (n=2) and significant hyperammonemia (n=4). Most cases required intensive care management. Death or neurodevelopmental impairment occurred in six cases. Seven cases had inborn errors of metabolism (IEMs). Other cases were attributed to starvation, sepsis, and salicylate intoxication.

Conclusions

This is the largest case series of pediatric NDKA. Ketoacidosis, even with hyperglycemia, is not always secondary to diabetes mellitus. IEMs may constitute a significant portion of pediatric NDKA. Increased awareness of this unfamiliar condition is important for prompt diagnosis, timely management, and better outcome.

Abstract

Objectives

The combination of sleep duration, television (TV) time and body mass index (BMI) may be related to the alteration of cardiometabolic risk. However, there are few studies that use these variables grouped, and showing the moderating role of age. This study aimed to verify if the combination of sleep duration, TV time and BMI is associated with cardiometabolic risk and the moderating role of age in this relationship in youth.

Methods

Cross-sectional study conducted with 1411 adolescents (611 male), aged 10–17 years. Sleep duration, TV time and BMI were assessed and grouped into eight categories. Cardiometabolic risk was assessed by a continuous metabolic risk score, including the following variables: low HDL-cholesterol, elevated triglycerides, dysglycemia, high systolic blood pressure, high waist circumference and low cardiorespiratory fitness. Generalized linear models were used to test moderation of age in the relationship between the eight categories of sleep duration/television time/BMI with cardiometabolic risk.

Results

Cardiometabolic risk factor showed association with all overweight or obesity independent of sleep time and TV time. Age moderated the relationship between sleep duration/television time/BMI with cardiometabolic risk. This association was stronger in younger adolescents (11 and 13 years), indicating that individuals with inadequate sleep, prolonged TV time and overweight/obesity present higher cardiometabolic risk values when compared to 15-year-old adolescents.

Conclusion

Overweight/obesity, independently of sleep duration and TV time, is the main risk factor for cardiometabolic disorders in adolescence. When moderated by age, younger adolescents that presented the combination of risk factors had higher cardiometabolic risk.

Abstract

Objectives

Phenylalanine hydroxylase deficiency is an autosomal recessive inborn error of phenylalanine metabolism.

What is new?

Εven in cases with negative newborn screening for inborn errors of metabolism, the possibility of a metabolic disorder including PKU should be considered in any child presenting symptoms of developmental disorders. Late diagnosed PKU patients require a more specialized and individualized management than if they were early treatment cases.

Case presentation

We discuss a case of a child with typical autistic symptomatology, in whom years later a diagnosis of phenylketonuria was set, even neonatal screening was negative. Τhe patient was placed on a phenylalanine-restricted diet. After a period of clinical improvement, severe behavioral problems with aggressiveness and anxiety were presented. Less restrictive diet ameliorated the symptomatology.

Conclusion

This case highlights the major medical importance of adequate newborn screening policy, in order to avoid missed diagnosed cases. PKU may be presented as autism spectrum disorder. Dietary management needs individualized attentive monitoring.

Abstract

Objectives

Clinical and laboratory data of reset osmostat (RO) and cerebral/renal salt wasting (C/RSW) mimic syndrome of inappropriate antidiuretic hormone (SIADH) and can pose diagnostic challenges because of significant overlapping between clinical and laboratory findings. Failure to correctly diagnose hyponatremia may result in increased mortality risk, longer hospital stay, and is cost-effective. We aim to illustrate clinical and laboratory similarities and difference among patients with hyponatremic disorders and discuss the diagnostic value of factional uprate excretion (FEurate) to differentiate SIADH from RO and C/RSW.

Case presentations

We report the use of FEurate in the evaluation of three patients with hyponatremia and elevated urine osmolality in the absence of edema or clinical evidence of dehydration to differentiate SIADH from RO and C/RSW.

Conclusions

Measurement of FEurate may offset in part the diagnostic confusion imparted by the diagnoses of SIADH, RO, and C/RSW.