Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).

Introduction: Spondylo-epi-metaphyseal dysplasia (SEMD) represents a group of osteo-chondrodysplasias characterized by vertebral, epiphyseal as well as metaphyseal abnormalities. Several genes have been identified underlying the different forms.

Methodology And Results: Two relatives (cousins) in a family were found to have disproportionate short stature with clinical and radiological features suggestive of SEMD.

Predictors and Outcome of Fragility Hip Fracture: A Prospective Study from North India.

Introduction: Fragility hip fracture is a useful surrogate marker of the burden of osteoporosis. With improving life expectancy and progressive ageing of population, the global burden of osteoporotic fracture is increasing. Despite this, there is paucity of data regarding epidemiology, predictors, and outcomes of fragility hip fractures in the Indian population.

FRAX: Facts and Fantasy.

FRAX is an important web based tool to assess fragility fracture risk in osteoporosis. It has many important limitations too. Good clinical judgement is needed to interpret the results of FRAX.

Non-islet cell tumor-induced hypoglycemia: a report of five cases and brief review of the literature.

Unlabelled: We describe the clinical presentation, diagnostic and management issues in five cases of non-islet cell tumor hypoglycemia (NICTH), diagnosed at a tertiary care institute over a period of 15 years. The clinical, laboratory, and histopathological findings of these patients along with diagnostic utility of IGF2:IGF1 ratio are discussed. The mean age of presentation was 52 years, with a male predominance (3:2).

"Petrified ears" with idiopathic adult-onset pituitary insufficiency.

"Petrified ears" or calcification of auricular cartilage is an uncommonly reported condition. The most common causes of this phenomenon are local trauma, frost bite, and inflammation. Adrenal insufficiency is the most frequent systemic disease associated with auricular calcification.

Emphysematous cystitis in a patient with type-2 diabetes mellitus.

Emphysematous cystitis is a relatively rare clinical entity caused by gas-fermenting bacteria or fungus. Presentation is often nonspecific and imaging is the best diagnostic modality. We report a case of a 45-year-old male who presented with fever, dysuria, and pneumaturia, and was found to have emphysematous cystitis.