Epistasis and the sensitivity of phenotypic screens for beta thalassaemia

Genetic disorders of haemoglobin, particularly the sickle cell diseases and the alpha and beta thalassaemias, are the commonest inherited disorders worldwide. The majority of affected births occur in low-income and lower-middle income countries. Screening programmes are a vital tool to counter these haemoglobinopathies by: (i) identifying individual carriers and allowing them to make informed reproductive choices, and (ii) generating population level gene-frequency estimates, to help ensure the optimal allocation of public health resources. For both of these functions it is vital that the screen performed is suitably sensitive. One popular first-stage screening option to detect carriers of beta thalassaemia in low-income countries is the One Tube Osmotic Fragility Test (OTOFT). Here we introduce a population genetic framework within which to quantify the likely sensitivity and specificity of the OTOFT in different epidemiological contexts. We demonstrate that interactions between the carrier states for beta thalassaemia and alpha thalassaemia, glucose-6-phosphate dehydrogenase deficiency and Southeast Asian Ovalocytosis have the potential to reduce the sensitivity of OTOFTs for beta thalassaemia heterozygosity to below 70%. Our results therefore caution against the widespread application of OTOFTs in regions where these erythrocyte variants co-occur

Scrotal Calcinosis Presenting As Nodular Masses : A Report Of 4 Cases

Scrotal calcinosis is characterized by multiple nodular masses within the scrotal skin, slowly increasing in size. The pathogenesis is obscure and is viewed by many to be idiopathic or can result from dystrophic calcification of epidermal cysts. We report 4 cases of scrotal calcinosis presenting as multiple nodules over scrotal skin

Glassy cell carcinoma of the uterine cervix a rare histology. Report of three cases with a review of the literature

Glassy cell carcinoma is a poorly differentiated variant of adenosquamous carcinoma of the cervix associated with an aggressive course and a poor prognosis. We present three cases of glassy cell carcinoma of the cervix. Patients presented with a cervical growth which was biopsied. Histology the tumours showed nests of cells with a granular or clear cytoplasm, displaying marked pleomorphism and mitoses. Stroma showed an eosinophilic infiltrate. Two tumours showed a pure glassy cell pattern and one showed glandular differentiation with intracellular and extracellular mucin. Patients were treated with a combination of surgery, radiotherapy and chemotherapy but showed a poor response. Two patients died of the disease of pelvic or distant metastases within two years of diagnosis and one was lost to follow up. Although glassy cell carcinoma runs an aggressive clinical course, an early diagnosis may help in a more effective management and offer a better prognosis

Cutaneous Rhinosporidiosis

Rhinosporidiosis, an infection caused by Rhinosporidium seeberi, predominatly causes lesions in nose followed by conjunctiva. Rarely the other mucocutaneous junctions are involved. Cutaneous rhinosporidiosis is infrequent and is associated with adjacent mucocutaneous disease. We present a case of cutaneous rhinosporidiosis which was not associated with disease elsewhere in the body and is very rare

Acute Miliary Tuberculosis Of Skin - A Case Report And Review Of Literature

Acute military tuberculosis of skin is a rare manifestation of tuberculosis. A 7 month old female presented with multiple subcutaneous nodules all over the body. Fine needle aspiration cytology and biopsy from the nodule showed tuberculous lesion with demonstration of acid-fast bacilli (AFB). A typical presentation of cutaneous tuberculosis in HIV era and its diagnosis by AFB stain is stressed

Giant cystosarcoma phyllodes tumor of prostate: case report of a rare entity

Although glandular and stromal proliferations of prostate are very common in adult men, neoplastic proliferations of prostatic stroma are distinctly uncommon. These tumors are now grouped as Prostatic Stromal Proliferations of Uncertain Malignant Potential (PSPUMP). Phyllodes tumor of the prostate is a rare neoplasm in this group with cellular, sarcomatoid stroma and benign hyperplastic glands. It is a locally expansile tumor with clinical course varying from benign to aggressive. We report a case of a 45-year-old man presented with retention of urine and abdominal lump. On laparotomy it was a huge tumor of 4 kg and was histologicaly characterized by cellular pleomorphic stroma and hyperplastic epithelium. Immunohistochemistry demonstrated prostate specific antigen in the glands. It was diagnosed as cystosarcoma phyllodes tumor of prostate. This is extremely uncommon tumor similar in histology to that of breast and it's clinical course varies with the grade. The patient was without recurrence one year after surgery