Fatema Jawad ( 7/6, Rimpa Plaza, M. A. Jinnah Road, Karachi. )
Prenatal Diagnosis of Thalassemia in Pakistan: First Case Report. Ahmed, S., Salecm, M., Rashid, V., Abbas, N., Malik, LA. Pak.J.PathoL, 1994;5:69-70.
Thalassemia, an autosomal recessive trait is the commonest inherited disorder in Pakistan. The homozygously affected children have a life long transfusion dependent anaemia. The difficulty of obtaining healthy and screened blood along with inadequate management facilities makes these children an enormous socioeconomic burden for the families. Till lately early antenatal diagnosis was not possible in the country. The Armed Forces Institute of Pathology, Rawalpindi have started this service and the first case was tested in 1994. The subject couple were known carriers for thalassemia trait. They were first cousins and had a two years old daughter who was suffering from thalassemia major. The mother was pregnant and reported for an early diagnosis. The mutation analysis was carried out on the parents’ blood by a Polymerase Chain Reaction (PCR) method called Amplification Refractory Mutation System (ARMS). The subject couple was found to have heterozygous IVSI-5 (G-C). A trans abdominal Chorionic Villus Sainpling(CVS)was done under ultrasound guidance at 12 weeks pregnancy. DNA was extracted after dissecting the CVS and mutation analysis performed. It was determined that the foetus had inherited IVSI-5 (G-C)from one parent and a normal beta gene from the other. This confirmed the heterozygous beta thalassemia trait. The pregnancy was allowed to continue. Prenatal diagnosis of thalassemia has played a major role in the thalassemia preventive programmes in the Mediterranean region. In Pakistan, the service has now been introduced and it is expected that a large number of thalassemic families will benefit from this facility.
Effect of Typhoid Fever on Thrombocytes. Rilal, N., Aziz, S., Shahid, M.A. J.Pak.Institute.Med.Sci., 1994;5:279-283.
The effect of typhoid fever on platelet count was studied on 44 patients diagnosed on the basis of positive blood culture or highly positive Widal titres. Thrombocytopenia with a count below 50,000 was observed in 2 cases only, whereas 13 had a count below 100,000. Eleven patients had platelets in the range of 101,000 to 150,000,7 between 15 1,000 and 200,000 with the remaining being above 201,000. Most of the patients with thrombocytopenia were in the younger age group of between 12 and 20 years and were more toxic due to generalised septicaernia. Antimalarials had been taken by 10 subjects before admission, 3 were on sulphonamides and 2 on chioramphenicol. But there was no consistency between drug intake and thrombocytopenia. Splenoniegaly was encountered in only 7 of the 44 patients so it could not be a contributory factor. The platelet count in all the cases returned to normal as the patients improved. By excluding all the probable etiological factors, leading to thrombocytopenia, in the 44 cases studied, it could be concluded that the lowered platelet count was secondary to heavy septicaemia due to salmonella infection. Either the septicaemia had a direct effect on the bone marrow or was the result of the antigen binding to the platelets and destroying them by antigen antibody reaction. The count improved significantly as the general condition of the patient got better.
Typhoid Perforation of Bowel. Iqbal, S.A., Siyal, K.H., Memon, M.M. PakJ.Surg., 1994;10:45-48.
A retrospective review of 45 patients with perforated typhoid enteritis, managed surgically, is presented. There were 39 males and 6 females with the age range being 14 to 55 years. All the cases had abdominal pain and vomiting, 73 percent had fever, 67 percent constipation and 14 percent diarrhoea. Anaemia was present in 67 percent cases, dehydration in 80 percent, abdominal rigidity with distension in 46 percent along with a raised blood urea level and deranged electrolytes. Abdominal X-ray showed free air beneath the diaphragm in 53 percent patients and multiple fluid levels in 40 percent. Laparotomy was performed under general anaesthesia and pus in the peritoneal cavity of more thanaliterwas drained out. Caecal perforation was encountered in 6 percent subjects with the remainder having a solitaiy ileal perforation. The surgical procedure adopted was simple debridement with two layer closure, or resection and anastomoscs or hemicolectomy according to the nature of the damage. Peritoneal toilet was done thoroughly. The post-operative complications were intra-abdominal abscess in 14 percent cases, wound infection and dehiscence 53 percent and faecal fistula14 percent. There were 9 deaths in the series. All the patients included in the review resided in thickly populated areas with unhygienic surroundings. They had all been inadequately treated initially by untrained people. Though. all were given chloramphenicol, broad spectrum antibiotics and metronidazole prior to operation, the mortality was 20 percent. This is attributed to insufficient medical care initially and late reporting to the hospital.
Typhoid fever and perforations are very common in the developing countries due to contaminated water supply and poor sanitation. Steps to prevent typhoid fever are mandatory. Early diagnosis and interventionwould improve the prognosis in case a typhoid perforation occurs.
Removal of Blocked Foley Catheter - Report of 36 Cases. Hussain, A.Z.M.Z., Hadi, H.I., Rahman, M., Hadi, M.A. Bangladesh Med.J., 1992;21:117-118.
The mode of management of 36 cases of blocked balloon catheters is presented. All the patients were elderly males with the catheters in place for a period of 2 weeks to 2 months. Ureteric catheter, wire stylet was used in32 cases and was successful in 27. Obstruction was encountered in 5 subjects where suprapubic needle puncture of he balloon was performed under local anaesthesia. In 4 cases the catheter got divided and the retained part slipped in the urethra. Under general anaesthesia, the catheter was pushed back in the bladder through an optical urethrotonie. The balloon was then stabbed under direct vision with the urethmtome knife and removed. The transcatheter puncture of the catheter balloon with a ureteric catheter style was found to be the simplest and most effective method of managing an obstructed balloon catheter. To prevent blockade of the inflation channel of the balloon, tap water should not be used, as it contains particles which get lodged and cause difficulties in deflation. Saline can lead to crystal formation and obstruction. The best fluid recom¬mended is sterile water.