Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.

Background: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment.

Methods: CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity.

Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation, and Neuroendocrine Tumor (ROHHADNET) Syndrome: A Case Report.

Here, we report the case of a rare and complex disorder, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neuroendocrine tumor (ROHHADNET) syndrome, in a three-year-old girl with no significant medical history. This is the first such case reported from the UAE. ROHHADNET is a rare disorder of respiratory control and autonomic nervous system regulation with endocrine abnormalities.

Fifteen-minute consultation: Investigation and management of hypoglycaemia in the term-born infant.

Hypoglycaemia in term infants is very common. Deciding on appropriate investigations and management is often challenging. The aims of this article are to help with understanding when, how and why to investigate symptoms of hypoglycaemia in full-term infants (born ≥37 weeks' gestational age).

Guinness World Record: Personal Experience and Physiological Responses of a Non-Professional Athlete Successfully Covering 620 Km in 7-Days by Foot Across the United Arab Emirates.

Ultra-endurance record-breaking attempts place significant metabolic, cardiovascular, and mechanical stress on the athlete. This research explores the personal experience and physiological responses of a non-professional athlete attempting the Guinness World Record of covering 620 km on foot across the United Arab Emirates in 7-days or less. The participant wore a smartwatch throughout the challenge to collect heart rate, activity, and environmental temperature data.

Exploring the Burden of Mealtime Insulin Dosing in Adults and Children With Type 1 Diabetes.

Timely and accurate mealtime insulin dosing can be an ongoing challenge for people with type 1 diabetes. This multinational, online study aimed to explore attitudes and behaviors around mealtime insulin dosing and the impact of mealtime dose timing, particularly with regard to premeal dosing (15-20 minutes before a meal). Although the majority of surveyed participants (96%) recognized the importance of accurate mealtime bolus insulin dosing, only a small proportion (35%) reported being "very confident" in accurate bolus insulin estimation.

Pycnodysostosis: A Growth Hormone Responsive Skeletal Dysplasia.

Objective: Pycnodysostosis is commonly associated with growth hormone (GH) deficiency and responds well to GH therapy with achievement of normal or near-normal height and restoration of body proportions.

Case Report: A 22-month-old extremely short (-4.05 height standard deviation score) disproportionate boy with skeletal dysplasia presented to clinic.

Cost analysis of insulin degludec in comparison with insulin detemir in treatment of children and adolescents with type 1 diabetes in the UK.

Objective: With healthcare systems under increasing financial pressure from costs associated with diabetes care, it is important to assess which treatments provide clinical benefits and represent best value. This study evaluated the annual costs of insulin degludec (degludec) versus insulin detemir (IDet) in children and adolescents with type 1 diabetes (T1D) in the UK.

Research Design And Methods: Using data from a randomized, treat-to-target, non-inferiority trial-BEGIN YOUNG 1-annual costs with degludec versus IDet in children and adolescents aged 1-17 years with T1D were estimated, as costs of these insulins and hyperglycemia with ketosis events.

Clinical Use of Degludec in Children and Adolescents with T1D: A Narrative Review with Fictionalized Case Reports.

The use of insulin in children and adolescents with type 1 diabetes (T1D) is a challenge because of the heterogeneity of these patients and their lifestyles, with consequent unpredictability in blood glucose levels. A new ultra-long-acting basal insulin, insulin degludec (degludec), has the potential to mitigate some of these challenges, notably variability in the glucose-lowering action of the basal insulin component of an insulin regimen, and consequent risks of hypo- and hyperglycemia. However, the protracted half-life and steady state pharmacokinetics of degludec potentially bring some new challenges.

The rate of hyperglycemia and ketosis with insulin degludec-based treatment compared with insulin detemir in pediatric patients with type 1 diabetes: An analysis of data from two randomized trials.

Background: Historically, data on the rate of hyperglycemia and ketosis have not been collected in clinical trials. However, it is clinically important to assess the rate of these events in children with type 1 diabetes (T1D). This question was addressed in two pediatric trials using insulin degludec (degludec).

Healthcare Resource Utilization and Costs Associated with Ketosis Events in Pediatric and Adult Patients with Type 1 Diabetes Mellitus in the UK.

Introduction: Ketosis is a metabolic state associated with insulin deficiency. Untreated, it develops into diabetic ketoacidosis, a significant contributor to mortality and morbidity in people with type 1 diabetes mellitus (T1DM). Little is understood about how patients utilize healthcare resources during ketosis events.

Development of Insulin Detemir/Insulin Aspart Cross-Reacting Antibodies Following Treatment with Insulin Detemir: 104-week Study in Children and Adolescents with Type 1 Diabetes Aged 2-16 Years.

Background: To study the long-term development (104 weeks) of insulin antibodies during treatment with insulin detemir (IDet) and insulin aspart (IAsp) in children with type 1 diabetes aged 2-16 years.

Methods: A 52-week, two-arm, randomized trial comparing IDet and neutral protamine Hagedorn insulin, both in combination with IAsp, was followed by a one-arm, 52-week extension trial of the IDet + IAsp arm. The present analysis was conducted in children who completed the randomized trial and entered into the extension trial.

Weight-sparing effect of insulin detemir: a consequence of central nervous system-mediated reduced energy intake?

Insulin therapy is often associated with adverse weight gain. This is attributable, at least in part, to changes in energy balance and insulin's anabolic effects. Adverse weight gain increases the risk of poor macrovascular outcomes in people with diabetes and should therefore be mitigated if possible.

Insulin degludec in combination with bolus insulin aspart is safe and effective in children and adolescents with type 1 diabetes.

Insulin degludec (IDeg) once-daily was compared with insulin detemir (IDet) once- or twice-daily, with prandial insulin aspart in a treat-to-target, randomized controlled trial in children 1-17 yr with type 1 diabetes, for 26 wk (n = 350), followed by a 26-wk extension (n = 280). Participants were randomized to receive either IDeg once daily at the same time each day or IDet given once or twice daily according to local labeling. Aspart was titrated according to a sliding scale or in accordance with an insulin:carbohydrate ratio and a plasma glucose correction factor.

Insulin analogues in children with Type 1 diabetes: a 52-week randomized clinical trial.

Aims: This 52-week, randomized, multinational, open-label, parallel-group, non-inferiority trial investigated the efficacy and safety of basal-bolus treatment with insulin detemir vs. NPH (neutral protamine Hagedorn) insulin, in combination with insulin aspart, in subjects aged 2-16 years with Type 1 diabetes mellitus.

Methods: Of the 347 randomized and exposed subjects, 177 received insulin detemir and 170 NPH insulin, both administered once or twice daily in combination with mealtime insulin aspart.

Treatment with insulin detemir or NPH insulin in children aged 2-5 yr with type 1 diabetes mellitus.

This randomised (1:1), multinational, open-labelled, parallel group trial compared insulin detemir (IDet) with neutral protamine Hagedorn (NPH) insulin, in combination with mealtime insulin aspart, over 1 yr in subjects aged 2-16 yr with type 1 diabetes mellitus. Of 348 randomised subjects, 82 (23.6%) were 2-5 yr (IDet: 42, NPH: 40).

Post-traumatic stress symptoms in mothers of very low birth weight infants 2-3 years post-partum.

We examined symptoms of post-traumatic stress disorder (PTSD) in mothers of very low birth weight (VLBW) infants 2-3 years post-partum, compared with mothers of term, normal weight infants. Mothers were asked to report current symptoms relating specifically to the birth of their infant using The Impact of Event Scale-Revised (IES-R). Mothers of VLBW infants recorded significantly higher levels of PTSD symptoms overall (median scores: VLBW 25 [range 2-82], versus controls: 0 [range 0-5], P < 0.

Short-term growth in children with congenital adrenal hyperplasia.

Objective: To describe short-term growth patterns in children with congenital adrenal hyperplasia (CAH).

Methods: Height was measured daily in 5 children (1 boy) aged 3.9-9.

Excellent growth response to growth hormone therapy in a child with PTPN11-negative Noonan syndrome and features of growth hormone resistance.

We report a child with Noonan syndrome, referred with severe short stature (height--5.4 SD) and biochemical features of GH resistance. The Noonan syndrome phenotype was confirmed by a clinical geneticist, however analysis of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene showed no mutation.

Intravenous immunoglobulins for the management of Stevens-Johnson syndrome with minimal skin manifestations.

Here we describe the successful use of intravenous immunoglobulin (IVIG) in the management of mycoplasma-induced, atypical Stevens-Johnson syndrome (SJS) with minimal skin manifestations. The patient was successfully managed with high-dose IVIG 0.5 g/kg for 4 consecutive days.

Blood pressure centiles for Great Britain.

Objective: To produce representative cross-sectional blood pressure reference centiles for children and young people living in Great Britain.

Design: Analysis of blood pressure data from seven nationally representative surveys: Health Surveys for England 1995-8, Scottish Health Surveys 1995 and 1998, and National Diet & Nutrition Survey 1997.

Methods: Blood pressure was measured using the Dinamap 8100 with the same protocol throughout.

Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature.

We report a case of Feingold syndrome with oesophageal atresia and microcephaly. Marked short stature was present at the age of 9 years. Although short stature has not previously been commented upon as a feature of this syndrome, a review of the literature indicates that it has occurred in several previously reported cases.

How is money spent on children's services?

Finance and activity data for the year 1999-2000 were used to identify the money spent on children's services in health and social care in a county with a population of 790,000. Total costs were almost pound 80m. Considerable amounts were spent on high cost, low volume activity.

Short-term changes in growth and urinary growth hormone, insulin-like growth factor-I and markers of bone turnover excretion in healthy prepubertal children.

Childhood growth is a non-linear process. To assess whether there is a biochemical correlate of non-linear growth, we have measured free pyridinoline (fPYR) and deoxypyridinoline (fDPYR) excretion in seven healthy prepubertal children, aged 6.1-7.