Clinical implications of BRCA1 gene mutations in patients with breast cancer

The aim of the present study was to outline BRCA 1 gene mutations and to highlight its clinical implications in patients with breast cancer. This study included 84 patients with breast cancer who were treated in the period from January 1997 to May 2001 in South Valley University Hospital and South Egypt Cancer Institute, Assiut University. Definitive treatment including surgery, chemotherapy, radiotherapy, and hormonal therapy, were adopted for patients according to the stage of the disease. Follow-up was performed to assess relapse and overall survival at 36 months, according to Kaplan-Meier method. Three genetic tests were carried out to outline and detect genetic polymorphism of BRCA 1 gene mutations. The first two assays were conducted with DNA [BRCA 1 and RAPDs assays]. The third test was serum protein profile. The results showed that BRCA 1 mutations were positive in 63% of breast cancer patients and were negative in the remaining 37%. All the patients had sporadic breast cancer. BRCA 1 mutations were positive in 2% of the control group. Genetic polymorphism revealed by RAPDs markers showed a strong correlation between BRCA l mutations and incidence of some polymorphic bands of OP6 [533 and 825] [88 and 76%, respectively]. There was a statistically significant correlation between BRCA 1 mutations and the commonest clinico-pathological features including premenopausal status, stages II and III, infiltrating ductal carcinoma, grade II and overall survival rate. In conclusion, BRCA 1 mutations may prove to be important etiological factors in sporadic breast cancer patients. BRCA l mutations correlate with the commonest clinico-pathological features and outcome. Other genetic polymorphisms like RAPDs fingerprint may affect the penetrance of RRCA 1 mutations

Reoperative thyroid surgery: approach and hazards

This study included 34 patients [25 females and 9 males with an age range from 25 to 72 years and a mean age of 38 years] subjected to reoperative thyroid surgery. 131I thyroid scan and whole body scan were performed. Surgical techniques were attempted, where different surgical procedures were performed. 131I ablation of thyroid remnants was carried out in patients with thyroid cancer and for those with relapsed toxic goiter. Operative complications were studied. Follow-up of patients with complications and those with thyroid cancer was done. The results showed that morphologically unilateral thyroid with isthmic involvement were found in 50% of patients. Diffuse thyroid enlargement accounted for about one-third of patients. Histologically, recurrent nodular goiter was found in 56% of patients, followed by recurrent toxic goiter [21%], thyroid carcinoma [21%] and chronic lymphocytic thyroiditis [one patient]. Surgically, the majority of patients were explored with standard Kocher incision [85%] and the remaining with adding lateral cervical approach. Extracapsular thyroidectomy was the commonest technique. Hemithyroidectomy followed by subtotal thyroidectomy were the commonest procedure, followed by near-total and total thyroidectomy. Recurrent laryngeal nerve was identified in 35% of patients, mainly in its lower cervical course, followed by middle third in relation to inferior thyroid artery. Temporary recurrent laryngeal nerve palsy occurred in 12% and permanent unilateral nerve palsy in 6% of patients. Parathyroid glands were identified in 24% of cases. Temporary and permanent hypocalcemia occurred in 15% and 12%, respectively. Complete ablation with 131I was achieved in four patients of thyroid carcinoma and partial ablation with 131I in the remaining three patients

Management outcomes in blunt abdominal trauma in children: [a prospective study]

Clinical pathways now highlight both observation and operation as acceptable initial therapeutic options for management of blunt abdominal trauma in children. The purpose of this study was to evaluate treatment trends and end results of blunt abdominal trauma in children. Sixity child were admitted to trauma and emergency department of Sohag university hospital in the period from October 1998 To March 2000. The age ranged from 1 To 14 years old [42 male, 18 female]. According to clinical examination and radiological investigations, patients were classified into two groups the first group [40 cases] was subjected to abdominal exploration and the second group [20 cases] was subjected to non-operative treatment. The first group: splenectomy was done for 21 cases [15 cases of grade 5, 6 cases of grade 4 splenic injury]. Hepatic tear was found in 4 cases, where suturing was done in 2 cases while homeostatic agents were applied in 2 cases. Biliary injury was found in 2 cases and intestinal injury was found in 13 cases. The second group: the non-operative management was successful in 9 out of 12 cases with grade 1, 2 and 3 of splenic trauma [75% success rate] while it was successful in 6 out of 8 cases of hepatic trauma [75% success rate]. The operative management was mandatory in blunt abdominal trauma in children if there was haemodynamic unstability or positive diagnosis of haemoperitoneum by one of different methods of investigation. The conservative management was successful in splenic injuries using the criteria of AAST [American Association for the Surgery of Trauma] if there was haemodynamic stability plus absence of other associated abdominal injury. It was also successful in hepatic injuries in specific conditions

Outcome of multiple stages endorectal pull-through [soave-boley operation] for hirschsprung's disease

Thirty patients with Hirschsprung's disease were selected for this study. Multiple stage endorectal pull-through was performed for all cases. The complications were analyzed into three phases. Seventeen cases passed smoothly without complications, while thirteen cases developed complications. The complication rate decreased as the time passes. They were thirteen cases during the early phase, nine of them continued to suffer from complications during the intermediate phase, while only seven cases still suffering from some complications during the late phase. Patient satisfaction was encountered in 90% and 10% were unsatisfied [suffering from stool soiling]. Recurrent symptoms of Hirschsprung's disease were not found. Soave-Boley operation has many advantages and has no significant major complications with an acceptable outcome for most of the patients treated for Hirschsprung's disease

One stage endorectal pull-through operation for Hirschsprung's disease, is it a safe and effective procedure or not?

Twenty patients out of sixty suffering from Hirschsprung's disease "H.D." were selected for this study, and admitted at Assiut U.H. and Sohag U.H. from the period of Jan. 93 to Jan. 1996. The criteria which directed our attention to perform pull-through as one stage without colostomy were [1] Lack history of recent or recurrent attacks of enterocolitis. [2] The patient was not severely ill at the time of diagnosis. [3] The patient had reasonable body weight [more than 75% of the expected average body weight]. [4] Presence of mild abdominal distention. [5] The child was not presenting with complete obstruction. [6] No gross dilatation of the colon as demonstrated by barium enema. [7] Co-operative parents. Original Soave's operation without preliminary colostomy was performed. No mortality was recorded in this study. Complications are discussed. One stage endorectal pull-through operation is a safe and satisfactory procedure for management of "H.D." in selected cases. It is free from significant or major complications, avoids the risk of multiple operations and successive exposures to anaesthesia. It is a cost and time saving operation for patient and hospital and gives the patient a chance to return to normal life in a short time

Crohn's disease: clinical features and surgical treatment

Eleven patients were included in this study, from June 1992 to March 1995. Histopathological examination proved to be Crohn's disease of the gastrointestinal tract. Both sexes were affected. Mean age was 47.6 years [range 3-65], 9 of which were in the 5th and 6th decades. Seven patients presented with acute abdomen which included intestinal obstruction [four cases], peritonitis [two cases] and lower abdominal pain [one case]. Four patients presented with chronic abdominal manifestations, two of them had palpable abdominal masses and the other two patients had rectal lesions. Right paramedian exploration was done for nine cases. Classical gross features of Crohn's disease in the form of thickening of the affected part of intestine and mesentery and enlarged regional lymph nodes were detected in two cases only. Terminal ileum was the commonest involved site [seven cases]. Resection anastomosis was done for nine cases with no postoperative anastomotic leakage and rectal biopsy was done for the other two cases. This study has suggested that the incidence of Crohn's disease is not rare in the locality. Clinical suspicion and histopathological study of any resected specimen are required for the diagnosis. The indications of surgical interference and operative procedures have been also clarified