ACUTE PERFORATION OF SMALL INTESTINE DUE TO TUBERCULOSIS

Twenty-two patients with acute perforations of the small intestine due to tuberculosis were operated upon at Irwin Hospital, New Delhi between 1971 and 1976. Most of them (85.36%) presented with features of peritonitis. Radiologically, evidence of pneumoperitoneum was found in six patients. Fourteen patients had a solitary perforation while multiple perforations were found in eight cases. Sixteen patients had an associated stricture immediately distal to the perforation. Management of these patients included resection anastomosis (12), closure of perforation with bypass (seven), and simple repair of perforation in three cases. The overall mortality was 45.45%. Mortality was significantly higher (P < 0.05) in patients with multiple perforations and in those who had multiple strictures. The high mortality and difficulty of correct pre-operative diagnosis have been stressed.     

Clasmatocytic Lymphoma of the nose with unusual metastasis

Extranodal malignant lymphomas of the head and neck are rare tumours. A rare case of primary Clasmatocytic Lymphoma of the nose, showing unusual metastases to the skin of the anterior abdominal wall, is presented. The case also developed recurrence in the abdominal lymph nodes after a long period of remission with a fatal outcome.     

Cecal volvulus in children

Volvulus of the cecum is very uncommon in children. Of 189 children operated upon from 1970–1977 for acute intestinal obstruction, in only six children, was cecal volvulus the cause. The etiology and treatment and factors affecting mortality are discussed.     

Aspects of the rationale for the Women's Health Trial

A 5.5-fold range in breast cancer incidence rates in 21 countries shows strong correlation with national estimates of per capita intake of dietary fat, but not with other caloric sources (proteins and carbohydrates). It is argued that certain breast cancer and hormone factors may contribute little to the explanation of such international variations in incidence of this neoplasm. It is further argued that experimental studies in animals support a specific role for dietary fat in the promotion of mammary tumors, but the effects of calories alone seem to be largely restricted to tumor initiation. Finally, data from international, migrant-population, and analytic epidemiologic investigations are used to motivate the basic relative risk assumption of study designs thus far proposed for the Women's Health Trial, and some continuing motivations for a dietary intervention (low-fat diet) trial are discussed.     

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan

Malik S, Kakar N, Hasnain S, Ahmad J, Wilcox ER, Naz S. Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. Mutations in IRF6 cause Van der Woude syndrome (VWS), one of the most common syndromes associated with cleft lip (CL) with or without cleft palate (CP). The presence of pits on the lower lip of patients is the most characteristic feature of the syndrome. We have identified three novel and seven previously reported IRF6 mutations in 12 of 16 unrelated families segregating VWS from Pakistan. The three newly identified mutations include a frameshift (c.568delG) and two missense mutations c.295G>A (p.G99S) and c.1219T>C (p.S407P). Recent functional studies on IRF6 and the three‐dimensional structure of IRF5 carboxy (C) terminus, a protein encoded by a paralog of IRF6, shed light on the p.S407P substitution. Additionally, the identification of the same mutations responsible for VWS in Pakistan, as reported in other global populations worldwide, marks these residues as mutational hotspots and indicates their essential role in structural stability or function of IRF6. This is the first study of VWS in Pakistan and we estimate that 1 in 100 patients with CL with or without CP (CL/P) are affected in the Pakistani population predominantly from the Punjab area.