No abstract

Avascular necrosis of the femur head (AVNFH) is a debilitating disease caused due to the use of alcohol, steroids, following trauma or unclear (idiopathic) etiology, affecting mostly the middle aged population. Clinically AVNFH is associated with impaired blood supply to the femoral head resulting in bone necrosis and collapse. Although Homocysteine (HC) has been implicated in AVNFH, levels of homocysteine and its associated pathway metabolites have not been characterized. We demonstrate elevated levels of homocysteine and concomitantly reduced levels of vitamins B6 and B12, in plasma of AVNFH patients. AVNFH patients also had elevated blood levels of sodium and creatinine, and reduced levels of random glucose and haemoglobin. Biophysical and ultrastructural analysis of AVNFH bone revealed increased remodelling and reduced bone mineral density portrayed by increased carbonate to phosphate ratio and decreased Phosphate to amide ratio together with disrupted trabeculae, loss of osteocytes, presence of calcified marrow, and elevated expression of osteocalcin in the osteoblasts localized in necrotic regions. Taken together, our studies for the first time characterize the metabolomic, pathophysiological and morphometric changes associated with AVNFH providing insights for development of new markers and therapeutic strategies for this debilitating disorder.

Carpal instabilities continue to be a controversial topic in hand surgery. Accurate diagnosis of the ligament injuries is usually difficult without an arthroscopic evaluation. Few studies have focused on the diagnosis and proper management of simultaneous scapholunate (SL) and lunotriquetral (LT) ligament tears. This is an uncommon injury that leads to marked disability and chronic wrist pain. This is essentially a "floating lunate" and indicates a severe ligamentous lesion. Thirteen patients (six female and seven male) with complete SL and LT tears and with gross arthroscopic dynamic carpal instability were included in the present study. None of the patients showed radiographic evidence of lunate dislocation. One patient presented acutely and was operated on 3 days after the injury. The average time from the initial injury to the arthroscopy for the other 12 patients was 13.5 months (range 1.5-84 months). All patients underwent arthroscopic debridement of the SL and LT ligaments coupled with percutaneous pinning (two 0.045-in. Kirschner wires) in both joints. At the final follow-up, the average range of motion was 50°o f flexion, 54°of extension, 77°of pronation, 80°of supination, 25°of ulnar deviation, and 15°of radial deviation. The average final grip strength was 67% from the non-affected side. All patients had negative shifting tests at final follow-up. Furthermore, there was no evidence of any static or dynamic instability in all the patients except for one patient who developed a volar intercalated segment instability 8 months after the surgery. At the final followup, ten patients had no pain, one had mild pain, and two experienced moderate pain.

No abstract

A large number of congenital disorders are very rare and localized to rural areas in India, a country that practices both endogamy and consanguinity. Recent advances in genomics can aid in the identification of causative genomic elements when exploring therapeutic interventions and developing neonatal screening to assign novel functions. Here, we report a novel loss-of-function mutation (p.Trp370*) in the HACE1 gene that is associated with a rare congenital neurodevelopmental disorder in a boy from a remote village in southern India.