Publications by authors named "Guillermo Pacheco Cuellar"
Article Synopsis
- Benign tumors in the spinal canal, including meningiomas and nerve sheath tumors, make up about 60%-70% of primary spinal tumors but have a low incidence overall.
- These tumors often cause vague symptoms related to the spinal cord and pose diagnostic challenges, leading to potential complications after treatment.
- The review covers various aspects such as the epidemiology, clinical signs, diagnosis, and treatment options for these tumors, while also discussing future strategies for improved management.
Article Synopsis
- Biallelic variants in the TBC1D24 gene are often linked to DOORS syndrome, which includes symptoms like deafness and intellectual disability.
- This study aimed to find genetic causes in families with DOORS syndrome that lacked TBC1D24 variants through genetic sequencing methods.
- A significant finding was the identification of a specific truncating variant in the ATP6V1B2 gene among multiple families with DOORS syndrome, suggesting a shared genetic basis and a potential connection between DOORS and another condition known as DDOD syndrome.
Background: Glycophosphatidylinositol-anchored proteins (GPI-APs) mediate several physiological processes such as embryogenesis and neurogenesis. Germline variants in genes involved in their synthesis can disrupt normal development and result in a variety of clinical phenotypes. With the advent of new sequencing technologies, more cases are identified, leading to a rapidly growing number of reported genetic variants.
View Article and Find Full Text PDFCongenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein that converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported.
View Article and Find Full Text PDFBackground: The β adrenergic receptors (ADRB) are expressed in the ciliary body and trabecular meshwork, structures involved in aqueous humor production and outflow, respectively. ADRB are members of the adrenergic family of G-protein-coupled receptors. Topic β blockers have a good local and systemic tolerance; they reduce the aqueous humor production and eye strain blocking the ADRB of the ciliary body and interfering with adenylate cyclase.
View Article and Find Full Text PDFObjective: To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene.
Study Design: Case report.
Results: We detected in a pregnant woman and her child the G View Article and Find Full Text PDF