Background: Sleep and epilepsy are characterized by a bidirectional relationship. Indeed, epilepsy predisposes to the development of sleep disorders, while sleep deprivation may exacerbate epilepsy. In addition, antiseizure medication can disrupt normal sleep architecture.
View Article and Find Full Text PDFBackground: PCDH19-related epilepsy is a rare X-linked type of epilepsy caused by genomic variants of the Protocadherin 19 (PCDH19) gene. The clinical characteristics of PCDH19-related epilepsy are epileptic and non-epileptic symptoms with highly variable severity among patients.
Case Presentation: We present a case of a 4-year old female with PCDH19-related epilepsycaused by new variants in the PCDH19 gene.
Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs primarily in females, with a ratio of 1:10.000. mutations in the Methyl-CpG Binding protein 2 (MECP2) gene on the long arm of X chromosome are responsible for more than 95% cases of classical Rett.
View Article and Find Full Text PDFProtocadherin 19 (PCDH19) gene is one of the most common genes involved in epilepsy syndromes. According to literature data PCDH19 is among the 6 genes most involved in genetic epilepsies. PCDH19 is located on chromosome Xq22.
View Article and Find Full Text PDFMost focal seizures originate in the temporal lobe and are commonly divided into mesial and lateral temporal epilepsy, depending upon the neuronal circuitry involved. The hallmark features of the mesial temporal epilepsy are aura, unconsciousness, and automatisms. Symptoms often overlap with the lateral temporal epilepsy.
View Article and Find Full Text PDFInt J Environ Res Public Health
September 2019
Ensuring normal linear growth is one of the major therapeutic aims in the management of type one diabetes mellitus (T1DM) in children and adolescents. Many studies in the literature have shown that pediatric patients with T1DM frequently present some abnormalities in their growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis compared to their healthy peers. Data on the growth of T1DM children and adolescents are still discordant: Some studies have reported that T1DM populations, especially those whose diabetes began in early childhood, are taller than healthy pediatric populations at diagnosis, while other studies have not found any difference.
View Article and Find Full Text PDFType 1 diabetes (T1D) is a chronic autoimmune disorder that leads to progressive pancreatic ß-cell destruction and culminates in absolute insulin deficiency and stable hyperglycaemia. It is very likely that environmental factors play a role in triggering islet autoimmunity. Knowing whether they have true relevance in favoring T1D development is essential for the effective prevention of the disease.
View Article and Find Full Text PDFBackground: Wolfram syndrome (WS), a rare genetic disorder, is considered the best prototype of endoplasmic reticulum (ER) diseases. Classical WS features are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, neurological signs, and other abnormalities. Two causative genes (WFS1 and WFS2) have been identified.
View Article and Find Full Text PDFThis study was planned to evaluate whether a 3-month treatment with GG (LGG) can modify immune system functions in children and adolescents with type 1 diabetes (T1D), leading to an increased immune response to an injectable quadrivalent inactivated influenza vaccine (QIV). A total of 87 pediatric patients with T1D were screened, although 34 patients in the Probiotic group and 30 in the Control group accepted to be vaccinated with QIV and completed the study. Vaccine immunogenicity and safety and the inflammatory cytokine response were studied.
View Article and Find Full Text PDFBackground: Visceral leishmaniasis (VL) is an anthropozoonosis caused by an intracellular parasite belonging to the genus . In the Mediterranean region, and are responsible for VL and dogs are the main reservoir. Haemophagocytic lymphohistiocytosis (HLH) represents a complication of VL and consists of unrestrained activation and proliferation of lymphocytes and macrophages, leading to uncontrolled immune activation.
View Article and Find Full Text PDFIn people with type 1 diabetes mellitus (T1DM), obtaining good glycemic control is essential to reduce the risk of acute and chronic complications. Frequent glucose monitoring allows the adjustment of insulin therapy to improve metabolic control with near-normal blood glucose concentrations. The recent development of innovative technological devices for the management of T1DM provides new opportunities for patients and health care professionals to improve glycemic control and quality of life.
View Article and Find Full Text PDFBackground: Type 1 diabetes (DM1) is one of the most common chronic diseases in childhood and requires life-long insulin therapy and continuous health care support. An artificial pancreas (AP) or closed-loop system (CLS) have been developed with the aim of improving metabolic control without increasing the risk of hypoglycaemia in patients with DM1. As the impact of APs have been studied mainly in adults, the aim of this review is to evaluate the efficacy and safety of the AP in the paediatric population with DM1.
View Article and Find Full Text PDFCarbohydrate counting (CC) is a meal-planning tool for patients with type 1 diabetes (T1D) treated with a basal bolus insulin regimen by means of multiple daily injections or continuous subcutaneous insulin infusion. It is based on an awareness of foods that contain carbohydrates and their effect on blood glucose. The bolus insulin dose needed is obtained from the total amount of carbohydrates consumed at each meal and the insulin-to-carbohydrate ratio.
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