Autoimmune Primary Adrenal Insufficiency in Children

Objective:Primary adrenal insufficiency (PAI) is a rare condition in children, and is potentially life-threatening. The most common cause is congenital adrenal hyperplasia, and autoimmune etiology is the most frequent acquired cause in this age group. Symptoms are usually non-specific and, when suspected, investigation should include adrenocorticotropin hormone (ACTH) and morning serum cortisol measurement and, in some cases, a cosyntropin test to confirm the diagnosis. Prompt treatment is essential to prevent an adverse outcome.Methods:We retrospectively collected clinical and laboratory data from adrenal insufficiency due to autoimmune adrenalitis, observed from 2015 to 2020 in a pediatric endocrinology department of a tertiary care hospital.Results:Eight patients were identified, seven males and one female, with age at diagnosis between 14 and 17 years. The symptoms at presentation ranged from non-specific symptoms, such as chronic fatigue and weight loss, to a severe presentation, with altered mental status and seizures. The median duration of symptoms was 4.5 months. The diagnosis was confirmed by serum cortisol and plasma ACTH measurement and all were confirmed to have autoimmune etiology (positive anti-adrenal antibodies). At diagnosis, the most common laboratory abnormality was hyponatremia. All patients were treated with hydrocortisone and fludrocortisone. One patient presented with evidence of type 2 autoimmune polyglandular syndrome.Conclusion:PAI is a rare condition in the pediatric age group. Due to non-specific symptoms, a high index of suspicion is necessary to establish a prompt diagnosis. Once an autoimmune etiology is confirmed, it is important to initiate the appropriate treatment and search for signs and symptoms of other autoimmune diseases during follow-up.     

Leukocyte telomere length and plasma interleukin-1β and interleukin-18 levels in mild cognitive impairment and Alzheimer's disease: new biomarkers for diagnosis and disease progression?

正Alzheimer's disease and mild cognitive impairment biomarkers: Alzheimer's disease(AD) is a progressive neurodegenerative disease of advancing age.It affects around 47 million people in the world and the number is estimated to increase to 152 million by 2050.Someone develops dementia every three seconds and the current annual cost of dementia is estimated at US $1 trillion, a figure set to double by 2030(Alzheimer's Disease International, 2019).     

Dysphagia in patients with moderate and severe obstructive sleep apnea

IntroductionThere is evidence that trauma caused by snoring in the pharynx could result in dysphagia in patients with obstructive sleep apnea, but the literature is still scarce to define the factors associated with the presence of dysphagia in these patients.ObjectivesTo analyze the occurrence of dysphagia and its clinical and polysomnographic features in patients with moderate and severe obstructive sleep apnea, in addition to verifying the impact of dysphagia on the quality of life of these patients.MethodsSeventy patients with moderate or severe apnea (apnea and hypopnea index – AHI > 15/hour) were selected. The patients underwent a sleep questionnaire, a quality of life in dysphagia questionnaire and a fiberoptic endoscopic evaluation of swallowing.ResultsA total of 70 patients were included in the study, of which 49 were men (70 %), with a mean age of 48.9 years. The fiberoptic endoscopic evaluation of swallowing was altered in 27.3 % and the most frequent alteration was the premature oral leakage with fluid. Comparing the groups with and without dysphagia, the female gender was the only clinical parameter that showed a trend of statistical significance in the group with dysphagia (p = 0.069). There was no statistical difference regarding the polysomnographic features and in the global quality of life score in dysphagia in the comparison between the groups.ConclusionsThe presence of dysphagia in patients with moderate to severe apnea is frequent and subclinical, reinforcing the need to investigate this symptom in this group of patients. However, the presence of dysphagia did not result in worsening in patients' quality of life, suggesting that, although frequent, its effect is mild. There was no relevance regarding the association of clinical and polysomnographic parameters with the presence of dysphagia.     

Mongoloid Children and the Burden of the Family

In Report #2, Marc Lappe wrote the following about possible abortion of a fetus discovered to be mongoloid: “Indian ahimsa holds that if this child's birth brings no additional suffering into the world (as it would not if parents are warm and loving; mongoloid children can live happily and respond to human warmth), it must be allowed to pass.” These letters are in response.     

Effects of 8-Week Online,Supervised High-Intensity Interval Training on the Parameters Related to the Anaerobic Threshold,Body Weight,and Body Composition during Pregnancy: A Randomized Controlled Trial

We aimed to assess the effects of an 8-week, online high-intensity interval training (HIIT) program on the parameters related to the anaerobic threshold (AT), body weight, and body composition in pregnant women. A total of 69 Caucasian women with an uncomplicated singleton pregnancy (age: 31 ± 4 years; gestational age: 22 ± 5 weeks; mean ± standard deviation) were randomly allocated to either an 8-week HIIT program (HIIT group) or to a comparative 8-week educational program (EDU group). Our most important finding was that even with the 8-week progression of pregnancy and physiological weight gain, the HIIT group maintained the same level of parameters related to AT: volume of oxygen at the AT (VO₂/AT), percentage of maximal oxygen uptake at the AT (%VO_2max/AT), and heart rate at the AT (HR/AT). In contrast, in the EDU group we observed a substantial deterioration of parameters related to the AT. The HIIT intervention substantially reduced the fat mass percentage (median: 30 to 28%; p < 0.01) and improved the total fat-free mass percentage (median: 70% to 72%; p < 0.01). In the EDU group, the body composition did not change significantly. An online, supervised HIIT program may be used to prevent the pregnancy-related risk of excessive weight gain and reduction in exercise capacity without yielding adverse obstetric or neonatal outcomes.     

Revised Protein Sparing Diet in Obesity and Type 2 Diabetes Mellitus

Effective nutrition therapy is a pressing issue in obesity and type 2 diabetes mellitus (T2DM) management. As such, this research aimed to determine the performance of a revised dietary strategy built on the protein-sparing diet in obesity and type 2 diabetes mellitus with regard to obtaining a rapid and stable improvement in glucometabolic control, body weight, body composition, and energy metabolism when applying the strategy in just twenty-one days. The revised protein-sparing diet differs from the traditional protein-sparing modified fast (PSMF) because it does not include foods. The daily calorie intake of this diet is exclusively derived from Isolate whey protein in addition to a formulation of Isolate whey protein enriched with essential amino acids in free form, with the addition of lipids such as extra virgin olive oil and coconut oil as a source of medium chain fatty acids, where the latter is taken for only the first four days of the diet, together with the use, for the same duration, of extended-release metformin, as the only antihyperglycemic allowed. Anthropometric measurements, bioimpedance analysis, indirect calorimetry, and blood chemistry assessments were conducted at the beginning of the study, time 0 (T0), and at the end, time 1 (T1), i.e., on the 21st day. The main outcomes of the revised protein-sparing diet after only twenty-one days were a reduction in body weight with the predominant loss of visceral atherogenic abdominal fat and, therefore, a possible contextual reduction in ectopic fat deposits together with a simultaneous reduction in insulin resistance and normalization of insulin levels, maintenance of free fat mass and basal metabolism, restoration of metabolic flexibility, and improvement of the glucometabolic and lipidic parameters. These results demonstrate the promising potential of the revised protein-sparing diet as an “etiologic tool” in the integrated nutritional treatment of metabolic diseases such as obesity and type 2 diabetes mellitus.