Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the ß-cell ATP-sensitive potassium channel, a key component of the glucose-stimulated insulin secretion pathway. Mutations in the two genes cause dysregulated insulin secretion; inactivating mutations cause an oversecretion of insulin, leading to congenital hyperinsulinism, whereas activating mutations cause the opposing phenotype, diabetes. This review focuses on variants identified in ABCC8 and KCNJ11, the phenotypic spectrum and the treatment implications for individuals with pathogenic variants.

Osteochondral autograft transplantation in the porcine knee.

BACKGROUND: Knee articular cartilage defects are not an uncommon problem. Because articular cartilage is limited in its ability to heal, these defects are difficult to manage. HYPOTHESIS: Osteochondral autografts will provide less of a cavitary defect and more viable hyaline articular cartilage than will control knees. STUDY DESIGN: Controlled laboratory study. METHODS: Osteochondral autografts were grossly and microscopically evaluated in the porcine knee and compared with a control at 6 weeks, 3 months, and 6 months. In 18 porcine specimens, a 1-stage surgical procedure was performed to harvest an osteochondral graft from a nonweightbearing articular cartilage surface, and the graft was transplanted into a defect created in the weight-bearing region of the medial femoral condyle. In the opposite control knee, a similar defect was created in the medial femoral condyle; an osteochondral transplant was not performed. Six pigs each were sacrificed at 6 weeks, 3 months, and 6 months. RESULTS: Gross inspection of the control knees showed a cavitary defect. The defect grossly decreased in size with fibrous ingrowth seen on microscopic analysis. An increasing amount of fibrous tissue and fibrocartilage was present at the 3 time periods. Gross inspection of the graft knee showed a healed osteochondral plug with no obvious displacement, cavitary defects, or surrounding necrotic tissue at each time interval. Microscopic analysis revealed the graft knee contained viable hyaline cartilage and healed viable subchondral bone. At all time intervals, 75% to 100% of the hyaline cartilage was viable in all specimens. In 6-month specimens, bridging cartilage at the autograft-host junction was incomplete in 50%, partial in 33%, and complete in 17%. CONCLUSION: Osteochondral autografts in the porcine knee resulted in viable hyaline cartilage for up to 6 months; there was inconsistent bridging hyaline cartilage at the periphery. Grafts appeared to heal into existing subchondral bone without displacement or evidence of necrosis. CLINICAL RELEVANCE: This type of osteochondral transplant can be used as a reliable reconstructive alternative for osteochondral defects.

Intrathoracic humeral head fracture-dislocation.

There are few cases in the medical literature documenting intrathoracic glenohumeral fracture-dislocations. A total of eight cases have been reported-two intrathoracic humerus dislocations with greater tuberosity fractures 1, 2 and six cases with intrathoracic fracture-dislocations in which the fracture involved the humeral neck. 3-8 With so few cases, treatment modalities vary, and no guidelines exist. Patients in five of the reported cases underwent surgery, 1, 3-6 while the other three were treated nonoperatively. 2, 7, 8 We present a case of a middle-aged woman involved in a high-speed motor vehicle accident who sustained an intrathoracic humeral head fracture-dislocation and underwent operative treatment.