Case Report: 49, XXXXY syndrome and high myopia

49, XXXXY karyotype syndrome has been thought of as a variant of Klinefelter's syndrome. It has an incidence of between 1/85 000 to 1/100 000 live births. Typical clinical features include coarse faces, skeletal abnormalities, hypogenitalism and severe learning difficulties. Common ocular features include hypertelorism, epicanthic folds and up-slanting palpebral apertures. Here we report a case of high myopia and its successful correction leading to a positive personality change in one such patient. We advocate full ophthalmic examination, under anaesthesia if necessary, and a trial of refractive correction, even in children thought unlikely to tolerate such.     

Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients

66 unrelated patients from Southern India with Duchenne Muscular Dystrophy (DMD) were studied for intragenic deletion in 18 exons and Pm region of the DMD gene using multiplex PCR. Of these 41 (62.1%) showed intragenic deletions. 78% of the deletions were located at the distal hotspot region (44-55 exons) and 22% of the deletions were located at the proximal region (exon 2-19). Exon 50 is most frequently deleted. Deletions in isolated cases were significantly more compared to familial cases. The lower incidence reported from South India compared to North India, is suggestive of variations in the Southern and Northern population.     

Ovarian carcinoma relapsing as a cerebellopontine angle tumour

Involvement of the central nervous system in epithelial ovarian carcinoma is rare. A 46-year-old woman with ovarian carcinoma relapsing with brain metastasis is described. She received radiotherapy for the metastasis and survived for 18 months.     

Osteosarcoma of the sella

Primary osteosarcoma of the skull is rare. Osteosarcoma arising from the sellar region is extremely uncommon. The case of a 38-year-old man with osteosarcoma of the sella is described, and the literature is reviewed. The patient was treated with surgery followed by aggressive chemotherapy and radiotherapy. Currently he is in remission at 12 months.     

Sino-bronchial syndrome in children with asthma

Thirty children in the age group of 2 to 12 years were brought with a history of recurrent non-seasonal moderate to severe wheezy episodes associated with symptoms of nasal congestion, sneezing and occasional headache. All of them had maxillary or pan sinusitis with 26 having associated right, left or bilateral lower lobe pneumonitis or bronchiectasis. Serum immunoglobulins were normal in 22 and was not done in eight. There was positive (2 to 4+ above negative control) skin test response to dust and dust mite in 15 of the 22 children tested. Throat swabs/sputum or nasal secretions grew B-hemolytic streptococcus or streptococcus pneumoniae in twenty-seven. All the children were put on bactericidal drugs for 6 to 8 weeks and bronchodilators were used when needed. At the end of 6 to 8 weeks follow-up X-ray of sinuses and chest showed significant clearing of the lesions which coincided with marked clinical improvement. Sinus X-ray should be considered in bronchial asthma resistant to medical management since untreated bacterial sinusitis can be an underlying cause of chronic poorly controlled asthma.     

Acute skin irritant effects of cyanobacteria (blue-green algae) in healthy volunteers

Objective : To assess the skin irritant potential of a range of laboratory grown cyanobacterial species using skin-patch testing on human volunteers.
Methods : Cell suspensions and extracts of cyanobacterial cultures of Microcystis aeruginosa (non-toxic strain), Anabaena circinalis and Nodularia spumigena were applied to 64 volunteers in one trial, and Microcystis aeruginosa (toxic strain), Apanocapsa incerta and Cylindrospermopsis raciborskii were applied to 50 volunteers in a second trial. Six cell concentrations of each organism in the range from less than 5,000 to greater than 200,000 cells/ml were applied in random order using adhesive skin patches (Finn Chambers). In addition, the applications included two treatments of each cyanobacterial species, involving whole and lysed cells, and positive (sodium lauryl sulphate) and negative (culture media) controls. Patches were removed after 24 hours and assessment of erythema was made by a dermatologist blinded to the species, cell type and concentration.
Results : On average, between 20% and 24% of individuals with 95% confidence interval ±8% reacted across the concentration range tested for these cyanobacterial species. The reaction rates were lower (11% to 15%) among the subset of subjects not reacting to negative controls. The reaction was mostly mild, and in all cases was resolved without treatment. This was the case for both whole and lysed cells with little difference in reaction rates between these two treatments. There was also no dose-response across the concentration range for any of the cyanobacterial species tested.
Conclusion : A small proportion of healthy people (around 20%) may develop a skin reaction to cyanobacteria in the course of normal water recreation, but the reaction is mild and resolved without treatment.     

Atypical Bennett’s fracture-dislocation

We herein report an unusual case of a fracture-dislocation of the thumb metacarpal base. The injury consisted of features typical of Bennett’s fracture-dislocation of the thumb trapeziometacarpal joint, with additional rotation of the proximal fragment, signifying a greater ligamentous injury. Radiographic features of this injury are discussed together with its pathomechanics. Surgical management was undertaken due to the inherent instability of this injury.     

The Cost-Effectiveness of Financial Incentives for Viral Suppression: HPTN 065 Study

Objective

To evaluate the cost-effectiveness of financial incentives for human immunodeficiency virus (HIV) viral suppression compared to standard of care.