TRATAMENTO DAS MUCOSITES ORAIS RESULTANTES DE TRATAMENTO ONCOTERÁPICO, UTILIZANDO A LASERTERAPIA DE BAIXA INTENSIDADE EM PACIENTES DO SERVIÇO DE ONCOLOGIA DO HOSPITAL SANTA RITA DE CÁSSIA

Cancer is a genetic disease, and one of the main public health problems. Cancer treatments (chemotherapy and radiotherapy) have some side effects, such as mucositis, which is the inflammation of the oral mucosa, and which generates a series of discomforts, sometimes milder, sometimes more severe. One of the treatments indicated for mucositis is low-level laser therapy, which acts to reduce symptoms. The purpose of this article is to describe four protocols of laser therapy, which were applied at Hospital Santa Rita de Cássia — Vitória, and also to discuss the results that were satisfactory.

Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare, potentially fatal genetic disease, manifesting as a lack of respiratory drive. Most diagnoses are made in pediatric patients, however late-onset cases have been rarely reported. Due to the milder symptoms at presentation that might easily go overlooked, these late-onset cases can result in serious health consequences later in life. Here, we present a case report of late-onset CCHS in an adolescent female patient. In this review we summarize the current knowledge about symptoms, as well as clinical management of CCHS, and describe in detail the molecular mechanism responsible for this disorder.

A Novel Disease-Causing ASPA Gene Mutation (c.432+1 G>C) in an Iranian Patient with Canavan Disease: A Case Report

Canavan disease is an autosomal recessive genetic disease and rare fatal childhood neurological disorder caused by mutations in the ASPA gene, which resulted in a catalytic deficiency of the ASPA enzyme that catalyzes the hydrolysis of NAA into aspartate and acetate. Herein, we report an Iranian patient diagnosed with Canavan disease with a novel splice-site mutation in the ASPA gene (NM_000049.4; c.432+1 G>C). This report is based on a homozygous c.432+1 G>C mutation in the ASPA gene identified from an Iranian patient. As a result, a novel homozygous pathogenic mutation on ASPA is the cause of disease in the patient.

Atrial Septal Defect Device Closure in Patients with Metabolic Diseases or Genetic Syndromes

Concomitant metabolic or genetic syndromes can make atrial septal defect device closure difficult. We searched our database and found eight. The cohort consists of patients with different metabolic and genetic disease . Thromboembolic events and device embolization occurred in some patients. Careful attention is recommended in patients with special diseases.