Spinal lumbar multimodal neurophysiological monitoring in a patient with deep brain Stimulator: A case report.

Intraoperative neurophysiological monitoring (IONM) is a highly valuable tool in spinal surgery. It allows for real-time evaluation of nervous system function and alerts the surgeon to any warning signs. Among the various techniques used are motor evoked potentials (MEPs) through transcranial electrical stimulation, which involve applying an electrical stimulus to the scalp in the primary motor cortex region and recording it in the corresponding muscles of the corticospinal tract.

Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

Background: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.

Methods: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.

Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose-galactose transporter SLC5A1.

Introduction: Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and management of the first patient reported with CGGM in Mexico.

Methods: The case involves a Mexican female infant with recurrent admissions to the emergency room since birth due to chronic diarrhea.

Intestinal metastases of colorectal cancer.

We present the case of an 82-year-old woman with a history of well-differentiated adenocarcinoma of the cecum, stage pT3N1M0, treated ten years before with right hemicolectomy and adjuvant chemotherapy (Capecitabine and Bevacizumab). She developed painless obstructive jaundice of sudden onset. Computed tomography (CT) showed an ampullary nodule with secondary dilatation of the biliary and the pancreatic ducts.

Infantile-onset Pompe disease in seven Mexican children.

Introduction: Pompe disease (PD) is a rare form of metabolic myopathy; the classic infantile presentation is severe, with death occurring before reaching one year of life, and the non-classical form is of slower progression and survival can exceed one year.

Objective: To describe the genotype and characteristics of Mexican patients with infantile-onset PD.

Methods: Seven patients with PD confirmed by enzymatic activity determination and GAA gene molecular analysis were included.