Cystic Echinococcosis Cases: A Retrospective Evaluation in a General Surgery Department.

Objective: Cystic echinococcosis (CE) caused by the larval stage of the parasite is a global health problem. This study aimed to assess cases of CE admitted to our General Surgery Department retrospectively, as there is no known similar publication concerning surgical treatment of abdominal cystic echinococcosis in Çanakkale province.

Materials And Methods: We analyzed laboratory and radiological findings alongside clinical and demographic features, treatments, and outcomes of cases undergoing surgical treatment for abdominal cystic echinococcosis in our department between 2012 and 2022.

Amphotericin B Resistant spp.: Report of Two Cases.

spp. are ubiquitous, and people are frequently exposed to their spores in the environment and hospital settings. Despite frequent inhalation of the spores, infection is infrequent in humans, except in immunosuppressed hosts.

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.

Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.

Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.

Association between CACNA1A and ATP1A2 Variants are Responsible for Severe Neurodevelopmental Disorder.

and genes encode proteins forming transmembrane channels, Na/K/ATPase transporter, and voltage-gated calcium channels, respectively. Pathogenic variants in these genes are associated with hemiplegic migraines, movement disorders, and developmental and epileptic encephalopathy.We report a child presenting epileptic encephalopathy with cognitive and behavioral troubles.