Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia. Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and tarsal bones. Biallelic loss-of-function variants in FLNB are known to cause spondylocarpotarsal synostosis syndrome and 9 families and 9 pathogenic variants have been reported so far. We report clinical features of 10 additional patients from 7 families with spondylocarpotarsal synostosis syndrome due to 7 novel deleterious variants in FLNB, thus expanding the clinical and molecular repertoire of spondylocarpotarsal synostosis syndrome. Our report validates key clinical (fused thoracic vertebrae and carpal and tarsal coalition) and molecular (truncating variants in FLNB) characteristics of this condition.

Technical considerations and functional outcome of 22 major replantations (The BSSH Douglas Lamb Lecture, 2005).

Twenty-two consecutive major replantations carried out over a 5-year period were assessed with a minimum follow-up of 2 years. Only two patients suffered guillotine amputations. The remainders were either crush, or crush avulsion amputation. Replantation was successful in 20 cases. When analysed by Chen's criteria, there were three Grade I, nine Grade II, six Grade III and two Grade IV results. Most patients with successful replants put the hand to greater use with time and replantation greatly added to the overall well-being of the patient. We consider major replantation as a worthwhile procedure. Radical debridement, bone shortening and well laid out protocols to reduce the ischaemia time are important for success. The technical details which we believe to be important for success are outlined. With decreasing numbers of such injuries in most countries, this paper may help surgeons faced with an occasional patient with a major amputation to make the right decisions.

The problem of aflatoxic human disease in parts of India-epidemiological and ecological aspects.

An outbreak of a disease characterised by jaundice, rapidly developing ascites and portal hypertension associated with 20 p. 100 mortality rate was investigated in 1974. Analysis of food samples revealed that the disease outbreak was due to the consumption of maize (corn) heavily infested with the fungus Aspergillus flavus. Unseasonal rains prior to harvest, chronic drought conditions, poor storage facilities and ignorance of dangers of consuming fungal contaminated food seem to have caused the outbreak. The level of aflatoxin in food samples consumed during the outbreak was ranging between 2.5 and 15.6 microgram/g. Anywhere between 2 and 6 mg of aflatoxin seems to have been consumed daily by the affected people for many weeks. In contrast, during 1975, analysis of corn samples from the same areas revealed very low levels of aflatoxin, viz., less than 0.1 microgram/g. This was in line with the absence of major outbreak in 1975.