Giant penoscrotal filariasis.

A 42 year old male individual having a hugely distended scrotum and barely perceptible penis, unable to maintain his livelihood on account of his handicap and socially withdrawn for the fear of humiliation, got admitted into the Surgery department of Mymensingh Medical College Hospital in August 5, 2007. The person had been carrying the so called curse for the last four years. On the basis of clinical, serological and haematological examinations, diagnosis was established as lymphatic filariasis causing elephantiasis of the scrotum. After assessment for operative feasibility, the patient underwent an operation in August 20, 2007 during which, ligation of both the spermatic cords, excision of the scrotum along with the testicles and reposition of the penile shaft into the anterior pelvic wall in the subcutaneous plane (Fleying procedure) was performed. The scrotum measured about 36 inches in diameter and weighed 40 kgs after excision. Histopathological examination of the scrotal skin confirmed the diagnosis. The patient was released without any complication, on the 11th post operative day after removal of stitches, with indwelling urethral catheter. He was prescribed Doxicycline for the next 8 weeks, a drug which has been found to be effective in treating filariasis in a number of studies, and acts by killing a symbiotic bacteria necessary for the survival of the worm. Follow up after 3 months was uneventful.

Molecular characterization of mutations causing β -thalassemia in Faisalabad Pakistan using the amplification refractory mutation system (ARMS-PCR).

BACKGROUND : Faisalabad is the third biggest city of Pakistan. Majority of the population is Punjabi while other ethnic groups are in minority. AIMS : The present study was undertaken to find the mutations causing β -thalassemia in Faisalabad Pakistan. MATERIALS AND METHODS : A total of 285 β -globin alleles from 143 unrelated families having at least one transfusion-dependent child were analyzed by using amplification refractory mutation system (ARMS-PCR). RESULTS : FSC-8/9 (+G) and IVS-I-5 (G ®C) were the most common mutations. The allele frequency for FSC-8/9 (+G) was 38.59% while frequency for IVS-I-5 (G ®C) was 37.89%. The high frequency (76.48%) of IVS-I-5 (G ®C) and FSC-8/9 (+G) on various alleles provides a strong evidence of intermarriages. CONCLUSIONS : By using ARMS-PCR, the mutations were successfully characterized in 95.79% of subjects, while 4.21% remain to be characterized. This study will facilitate the implementations of genetic counseling and prenatal diagnosis in the population of Faisalabad.