Publications by authors named "Saji Alexander"
Article Synopsis
- Two patients of East African descent have been identified with a novel homozygous variant in the parathyroid hormone receptor type 1 (PTH1R), which is linked to Eiken syndrome features such as brachydactyly and skeletal abnormalities.
- Both patients showed parathyroid hormone resistance, resulting in low calcium and high phosphate levels, which initially pointed to pseudohypoparathyroidism, yet genetic testing confirmed a specific PTH1R mutation.
- Functional analysis revealed that both PTH1R variants caused increased basal cAMP signaling and reduced responsiveness to PTH and PTH-related peptide, indicating a disruption in PTH1R signaling pathways associated with their clinical symptoms.
Influence of radiographic examination findings on recommendations made during routine clinical re-evaluation of dogs with uncomplicated tibial plateau leveling osteotomy.
Vet Surg
January 2021
Article Synopsis
- The study aimed to evaluate how follow-up radiographic examinations affect treatment recommendations for dogs recovering from uncomplicated tibial plateau leveling osteotomy (TPLO).
- The research analyzed records of 1,010 dogs from 11 institutions and found that only a small percentage (4.15%) had changes in recommendations based on radiographic findings or client concerns.
- Ultimately, the study concluded that radiographic results generally do not significantly impact the management of dogs recovering well from TPLO without additional concerns or abnormal findings during check-ups.
Article Synopsis
- The study investigates a large group of 411 patients from 288 families with skeletal dysplasia, focusing on their genetic information.
- It finds 224 potentially harmful genetic variations in 123 related genes, including five that may be significant for the disease, and identifies both established and new phenotypic categories of skeletal dysplasia.
- The research highlights a higher-than-average disease burden in their population and aims to enhance the diagnosis of skeletal dysplasia by broadening our understanding of its phenotypic and genetic diversity.
Background: Treatment of children with intravenous ceftriaxone on an ambulatory basis is described. This allows a child to remain at home, but also be reviewed regularly when attending the Emergency Department for antibiotics.
Methods: Indications for, and length of, treatment and laboratory parameters were recorded.
Costello syndrome is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia. Endocrine abnormalities including growth hormone deficiency, adrenal insufficiency, glucose intolerance, parathyroid adenoma with hyperprolactinemia and hypoglycemia have been described. Hypoglycemia has been documented due to growth hormone and cortisol deficiency.
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