Influence of radiographic examination findings on recommendations made during routine clinical re-evaluation of dogs with uncomplicated tibial plateau leveling osteotomy.

OBJECTIVE: To determine the influence of follow-up radiographic examination on recommendations made during routine clinical re-evaluation of dogs that had undergone uncomplicated tibial plateau leveling osteotomy (TPLO). STUDY DESIGN: Retrospective multi-institutional case series. ANIMALS: Client-owned dogs (N = 1010) that underwent uncomplicated TPLO. METHODS: Records from 11 institutions were searched for dogs that had been treated with unilateral TPLO and had no history of postoperative complications before their routine follow-up examination. The frequency of change in further clinical recommendations resulting from client- or clinician-voiced concerns or radiographic abnormalities was investigated. RESULTS: Follow-up evaluation was performed at a median of 6 (range, 4-15) weeks after TPLO. Radiographic examination findings contributed to a change in recommendations in 4.15% (38/915) of dogs presented without client concerns and without abnormalities at orthopedic examination. Abnormal radiographic findings alone influenced the management of 3.76% (38/1010) of dogs. An association was detected between clinical features and radiological findings leading to a change in recommendations (P < .0001). Administration of analgesia at the time of follow-up was associated with radiographic abnormalities (P = .017) and change in postoperative plans (P = .0007). CONCLUSION: Radiographic examination findings at follow-up did not influence the management of most dogs with uncomplicated TPLO. CLINICAL SIGNIFICANCE: Radiographic examination findings are unlikely to influence the treatment of dogs that seem to be recovering uneventfully from an uncomplicated TPLO without concerns from clients, analgesia, or abnormal findings on thorough orthopedic examination by a surgical specialist, at the time of the planned clinical re-evaluation.

Expanding the phenome and variome of skeletal dysplasia.

PURPOSE: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized. METHODS: Detailed phenotyping and next-generation sequencing (panel and exome). RESULTS: Our analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average. CONCLUSION: By expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.

Ambulatory intravenous ceftriaxone in paediatric A&E: a useful alternative to hospital admission?

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. Also, a survey of children's parents was undertaken to ascertain opinions regarding ambulatory treatment. RESULTS: 36 patients were treated with ambulatory ceftriaxone over 4 months. Indications included fever without focus, tonsillitis, periorbital cellulitis, urinary tract infection, petechial rash and lymphadenitis. Median duration of treatment was 2.3 days. There was no occult bacteraemia but five positive urine cultures. There was one failure of treatment with subsequent admission for alternative intravenous antibiotics. CONCLUSIONS: Parental opinion favours ambulatory treatment, with 94% of parents acknowledging they would choose it again in similar circumstances. Cost analysis favours ambulatory treatment based on predicted costs of a similar length of inpatient stay.

Costello syndrome and hyperinsulinemic hypoglycemia.

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. We report on two patients with Costello syndrome and persistent hyperinsulinemic hypoglycemia and review the endocrine manifestations of Costello syndrome. Both patients required diazoxide therapy to stop the unregulated insulin secretion and maintain normoglycemia. The mechanism of persistent hyperinsulinism in patients with Costello syndrome is unclear.