Medicina-buenos Aires最新文献

Obesity is one of the non-communicable chronic diseases with the highest increase in recent decades in Latin America, affecting children, adolescents, and especially young adults. Forty percent of adults have a body mass index greater than 25 kg/m2. Numerous studies have demonstrated a relationship between obesity and cardiovascular diseases such as hypertension, coronary artery disease, heart failure, cardiac arrhythmias, diabetes, sleep apnea, and oncological diseases, among others. Weight loss in individuals with overweight and obesity has been shown to reduce the risk of developing comorbidities or improve their progression. Healthcare professionals must initiate patient care by considering their values and treatment goals, facilitating reflection, and fostering responsibility to promote long-term improvements. The initial approach, communication, and physician's attitude during the evaluation of a patient with obesity are significant determinants for successful treatment and patient health. The objective of this document is to compile the available information on the disease and present practical and summarized clinical management recommendations based on scientific evidence.

Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). While they may share semiology in some types of seizures, such as sequential, and even share alterations in common genes in their etiology, their evolution is very different. In self-limited neonatal syndromes, seizures typically resolve within the first months of life with normal psychomotor development, giving rise to the term self-limited. However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electroclinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the recommended treatments.

Rare diseases are characterized by low prevalence and high complexity, affecting millions globally. Although technologies like massive sequencing improve diagnose, therapeutic options remain largely symptomatic or palliative, with few curative treatments approved. In the context of rare diseases, especially genetic neurodevelopmental disorders, therapy development faces obstacles such as phenotypic variability, diverse molecular mechanisms, and complexities in assessing neurodevelopment in natural history and clinical trials. Current strategies include drug repositioning, biomarker development, and a multilateral approach in seeking solutions, offering hope. This work reviews various strategies in developing therapies, from gene therapy and epigenetic therapies to identifying biological targets.

Approximately 30% of people with epilepsy will be refractory. This manuscript reviews current evidencebased non-surgical treatment modalities for pediatric refractory epilepsy, including pharmacological and dietary strategies.

The prevalence of sleep disorders (SD) is notoriously increased in children with chronic neurological disease, with a negative bidirectional link that aggravates their symptomatology and has a negative impact on the quality of life of the child and their families. Identifying and recognizing this association is key for the child neurologist since the treatment of SD significantly improves daytime symptomatology in neurodevelopmental disorders, epilepsy, primary headaches, cerebral palsy and neuromuscular diseases.

Autism will accompany people throughout life with variations in its evolution and is frequently associated with other neurodevelopmental disorders (intellectual disability, attention deficit hyperactivity disorder, motor clumsiness, language disorder), neuropsychiatric disorders (depression, anxiety, schizophrenia, catatonia), epilepsy, sleep disorders, gastrointestinal disorders. In addition to the disorders typical of autism, we must consider an entire range of conditions, since their identification and adequate treatment will allow a better quality-of-life for people with autism. In 35% of cases, we can identify neurogenetic conditions which will allow us to prevent or identify associated medical entities. In this work we will analyze two groups, in a purely organizational way, medical conditions associated with defined entities (Down, Angelman, Fragile X, Rett, Phelan-McDermid and Timothy syndromes) and those that can be consistently associated in people with autism without an identified entity.

Rett Syndrome (RTT) is a neurodevelopment disorder which primarily affects females and is caused by pathogenic variants in the MECP2 gene. The disease has a characteristic developmental regression resulting in impairment of expressive language, hand skills, and ambulation that is accompanied by hand stereotypies. The goal of this article it to provide an overview of the diagnosis, natural history, and treatment.

Angelman syndrome is a severe neurodevelopmental disorder secondary to disruption of the UBE3A gene in the maternal allele of chromosome 15. Its manifestations are mainly neurological, but a multidisciplinary management is required for its treatment. There are consensus guidelines available for best clinical management. Current clinical trials with antisense oligonucleotides promise, for the first time, to treat the cause by activating the UBE3A gene in the paternal allele, showing encouraging preliminary clinical effects. Inoculation of UBE3A gene through a viral vector has been tested in animal models and is underway for future clinical trials.