Use of growth hormone in region 19p13.3 microduplication syndrome in girl with central early puberty: a clinical case report

Chromosomal mutations involving 19p13.3 have been described as pathogenic. clinical and phenotypic features can include, in most cases, psychomotor development delay, microcephaly, typical facial appearance, hand and foot anomalies, umbilical hernia, hypotonia, and low percentage of lean mass. The main types of mutation found on this chromosome are deletion or duplication. Short stature is often the cause of medical demand and the use of exogenous GH for patients with this syndrome is not beneficial. This article reports the case of a 5-year-old girl who sought medical help due to short stature and was diagnosed with this syndrome. Furthermore, this case study may contribute to the dissemination in the medical community about the association of this genetic mutation with the child's clinical condition, warning about this syndrome, and the possibility of the occurrence of early puberty. This study was analyzed and approved by the Research Ethics Committee (CEP) according to a substantiated opinion number 4.765.113

Pseudohipoaldosteronism Type 1: a case report supported by a literature review

In the neonatal period, hydro electrolytic disorders with dehydration and metabolic acidosis can cause admission to an intensive care unit and become a diagnostic challenge. Among such disorders, hyponatremia and hyperkalemia become diagnostic challenges with hormonal involvement, including aldosterone. Pseudohypoaldosteronism (PHA) resulting from the lack of response to aldosterone in target cells can be classified into three types and its suspected diagnosis in cases of hyponatremia, hyperkalemia with an elevation of serum aldosterone, can be confirmed by exome sequencing with identification of a potentially pathogenic. This study was based on the case report of a newborn of consanguineous parents who, after birth, evolved in the first week of life with shock, hyponatremia, hyperkalemia, and metabolic acidosis. An initial investigation ruled out congenital adrenal hyperplasia. The presence of hyperaldosteronism with increased plasma renin activity, associated with hyperkalemia and hyponatremia difficult to control with electrolyte replacement, led to a molecular investigation that confirmed PHA type 1 by a mutation in the SCCN1A gene. In neonates with severe hyponatremia that is difficult to resolve with conventional treatment and elevation of serum aldosterone, this pathology must be remembered and investigated, avoiding high morbidity and mortality

The Relationship between Type 1 Diabetes Mellitus, TNF-α, and IL-10 Gene Expression

Type 1 diabetes mellitus (T1DM) is one of the major chronic diseases in children worldwide. This study aimed to investigate interleukin-10 (IL-10) gene expression and tumor necrosis factor-alpha (TNF-α) in T1DM. A total of 107 patients were included, 15 were T1DM in ketoacidosis, 30 patients had T1DM and HbA1c ≥ 8%; 32 patients had T1DM and presented HbA1c < 8%; and 30 were controls. The expression of peripheral blood mononuclear cells was performed using the reverse transcriptase–polymerase chain reaction in real time. The cytokines gene expression was higher in patients with T1DM. The IL-10 gene expression increased substantially in patients with ketoacidosis, and there was a positive correlation with HbA1c. A negative correlation was found for IL-10 expression and the age of patients with diabetes, and the time of diagnosis of the disease. There was a positive correlation between TNF-α expression with age. The expression of IL-10 and TNF-α genes showed a significant increase in DM1 patients. Once current T1DM treatment is based on exogenous insulin, there is a need for other therapies, and inflammatory biomarkers could bring new possibilities to the therapeutic approach of the patients

Organokines, Sarcopenia, and Metabolic Repercussions: The Vicious Cycle and the Interplay with Exercise

Sarcopenia is a disease that becomes more prevalent as the population ages, since it is directly linked to the process of senility, which courses with muscle atrophy and loss of muscle strength. Over time, sarcopenia is linked to obesity, being known as sarcopenic obesity, and leads to other metabolic changes. At the molecular level, organokines act on different tissues and can improve or harm sarcopenia. It all depends on their production process, which is associated with factors such as physical exercise, the aging process, and metabolic diseases. Because of the seriousness of these repercussions, the aim of this literature review is to conduct a review on the relationship between organokines, sarcopenia, diabetes, and other metabolic repercussions, as well the role of physical exercise. To build this review, PubMed-Medline, Embase, and COCHRANE databases were searched, and only studies written in English were included. It was observed that myokines, adipokines, hepatokines, and osteokines had direct impacts on the pathophysiology of sarcopenia and its metabolic repercussions. Therefore, knowing how organokines act is very important to know their impacts on age, disease prevention, and how they can be related to the prevention of muscle loss