Peutz-Jeghers Syndrome: An outline on Diagnosis and Management

Peutz-Jeghers Syndrome (PJS) is a rare inherited autosomal dominant disorder characterized by pigmented mucocutaneous melanotic macules and hamartomatous polyps. PJS arises due to mutations in STK11 gene located on chromosome 19q 13.3 and predisposes the patients to a multitude of malignancies with an estimated cumulative risk of 81% - 93%. Breast, gastrointestinal tract, pancreas, reproductive system and lung are common sites of development of malignancies in these patients. Anemia, rectal bleeding, abdominal pain, obstruction and intussusception are the usual complications in patients with PJS leading to multiple interventions. Upper GI endoscopy and Double Balloon Enteroscopy (DBE) allows screening of the gastrointestinal tract. Polypectomy of hamartomas more than 1 cm carried out at the time of surveillance endoscopy, abates the complications like bleeding, obstruction and intussusception. When DBE is not feasible, intraoperative endoscopy (IOE) is helpful to evaluate the entire gastrointestinal tract during surgery. IOE is also crucial for removal of all small intestinal polyps. Imaging techniques like magnetic resonance enterography and computed tomography enterography and video capsule endoscopy are non-invasive options for evaluation and screening in these patients. Sixty eight percent of the patients require emergency surgery during their lifetime. Regular cancer screening protocols should be instituted for early detection of malignancies. Genetic counseling and screening of other first degree family members helps in their preemptive identification and management. Chemoprevention using mTOR inhibitors, COX-2 inhibitors could be helpful in polyp reduction.

Optimization of sentinel lymph node identification techniques in the Indian setting: A randomized clinical trial

INTRODUCTION: The recommended technique of sentinel lymph node biopsy (SLNB) in breast cancer is a combination of blue dye and radiotracer. In the Indian scenario, SLNB is still not routinely practiced due to lack of nuclear medicine facilities and unavailability of isosulfan blue or patent blue violet (PBV). This study was conducted for optimizing SLN identification techniques by comparing the identification rate using PBV and methylene blue (MB) in combination with radiotracer. MATERIALS AND METHODS: Single-blinded two-arm parallel design randomized control trial was conducted at an apex teaching and research medical institute in India. Patients with axillary LN–negative breast cancer were included. Blue dye and radio tracer were injected preoperatively, and SLNB was performed using a combination technique. Frozen section was performed. Demographic, clinical, radiological, operative, and histopathological data were recorded. Descriptive statistics were used to represent patient characteristics. Baseline characteristics for entire cohort and between groups were compared using Student's t-test for quantitative variables and Chi-square test for qualitative variables. RESULTS: A total of 119 patients were randomized for mapping with MB and 118 patients with PBV between 2011 and 2015. SLN was identified in 116 patients with MB and 115 with PBV. SLN identification proportions were 97.4% (MB) and 96.6% (PBV). In patients undergoing axillary lymph node dissection, concordance with SLNB was 98.5% and 96.61% in MB and PBV, respectively. False-negative proportion for MB was 2.56% and 7.69% for PBV, respectively. The cost of MB is about INR 15 per ~10-mL vial. The cost of PBV is approximately ~$91 per ampoule (equivalent to approximately INR 8190). CONCLUSION: SLNB using MB can be recommended as the technique of choice in low-resource settings.

Comparison of resection margins and cosmetic outcome following intraoperative ultrasound-guided excision versus conventional palpation-guided breast conservation surgery in breast cancer: A randomized controlled trial

INTRODUCTION: Use of intraoperative ultrasound (IOUS) has been shown to help achieve satisfactory cosmesis and negative margins in breast conserving surgery (BCS). This study has been done to compare the oncological and cosmetic outcomes following BCS using conventional palpatory method and IOUS. MATERIALS AND METHODS: This is a prospective randomized controlled trial conducted at a tertiary care teaching and research institute in India. Patients with early operable breast cancer willing for BCS were included. Tumors were excised with 1 cm margin. In palpatory group, tumor was palpated and 1 cm margin was taken with a measuring scale while in the second group, IOUS was used to mark the margins. Histopathological evaluation was done to assess margins and cosmesis was assessed by patient, resident doctor, and nurse independently. RESULTS: Sixty patients were included, 32 in the ultrasonography-guided and 28 in palpation-guided wide local excision. The mean age of patients was 48.78 years. In both groups, mean tumor size was 3.18 cm. Margin thickness and positivity was higher in palpatory group (though P > 0.05). Most patients were satisfied with cosmesis. There was no significant difference in complications and specimen volume in both groups. Presence of ductal carcinoma in situ component and expression of Her2neu by tumor cells had a significant impact on margin positivity. CONCLUSIONS: Intraoperative use of ultrasound offers a real-time assessment of margin status and may reduce the margin positivity rate compared to conventional palpation-guided method.

Factors associated with attrition in patients with breast cancer: a retrospective study.

BACKGROUND: Attrition in follow up is a key limitation of longitudinal studies, especially in cancer patients in developing countries. We did a retrospective analysis of possible factors that resulted in attrition of patients with breast cancer during follow up. METHODS: This study is a comparison between patients who came for a follow up regularly to our clinic with those who did not but could be contacted on phone or by post. A computerized grouped database was constructed with the following parameters: age, religious community, other co-morbid conditions if present, distance from place of residence to our city, residence in city/ village, initial stage of the disease, type of treatment and disease relapse or death. RESULTS: Using binary logistic regression, disease relapse was found to be the most important cause of non-compliance. The odds ratio for irregularity or loss to follow up of patients with disease relapse was 2.53 (95% CI: 1.17-5.46; p = 0.02) for patients who were alive with disease relapse and 6.1 8 (95% CI: 3.47-11.02; p < 0.001) for patients who had died due to the disease compared with those who were alive and free of disease. The age and place of residence in a village were other significant factors. The odds of attrition due to age were 1.03 (95% CI: 1.01-1.05; p = 0.04) for each year of increase in age and that of residence in a village was 1.85 (95% CI: 1.02-3.36; p = 0.04). CONCLUSION: Age, disease relapse and residing in a village are important causes of attrition during follow up of patients with breast cancer in India.

Hepatic hydatid cysts with biliary, and peritoneal rupture and transdiaphragmatic migration.

Hydatid disease is a parasitic infection that most commonly involves the liver. Imaging plays a vital role in the diagnosis of this disease. Rupture of the cyst can give rise to a wide spectrum of complications. We describe a case of hepatic hydatid cyst with rupture into the biliary tree, right pleural cavity and dissemination into the peritoneal cavity, with associated splenic hydatid cysts. MRI may be a useful non-invasive diagnostic tool in such disseminated cases to define the complete extent of the disease.

Laparascopic cholecystectomy: cystic duct occlusion with titanium clips or ligature? A prospective randomized study.

During laparoscopic cholecystectomy (LC), cystic duct occlusion can be done with titanium clips or laparoscopically tied knots. However, till date, there is no randomized, controlled study reported in the literature that has prospectively compared the outcome using either of these methods. In the present study, 105 patients who were to undergo LC were randomly assigned to two groups. Group I comprised patients undergoing cystic duct occlusion with clips while group II comprised those undergoing cystic duct occlusion with knots. Our aim was to compare the postoperative outcome in both the cases. The incidence of overall bile leak following LC was 4 out of 105 (3.8%) while the leak rate following cystic duct occlusion with clips was 2 out 52 (3.9%), and that following ligature was 2 out of 53 (3.8%). The procedure using ligature took slightly longer time than that using clips. There was no significant difference in the postoperative outcome in either group. The use of ligature is a feasible, safe and cost-effective alternative to the use of titanium clips for cystic duct occlusion during LC.

Laparoscopic Nissen fundoplication; results of a prospective pilot study.

Laparoscopic fundoplication is rapidly becoming the surgical procedure of choice in western countries for the management of gastro-oesophageal reflux disease (GERD). Experience with this technique is limited in India. Most operations continue to be performed through the traditional open technique, thus denying the advantage of a minimal invasive approach to patients. This study was done to evaluate the feasibility and short term results of laparoscopic Nissen fundoplication. Between June 2000 and March 2002, a total of 10 patients with GERD refractory to medical therapy or requiring daily treatment underwent laparoscopic Nissen fundoplication. Preoperative evaluation included scoring of symptoms, oesophagogastroduodenoscopy, barium swallow and nuclear scan. The intraoperative and post-operative course of the patients was recorded. At 3 months post-surgery, patients were re-evaluated using pre-operative symptom scores and investigations to assess the benefit of and complications associated with surgery. Laparoscopic nissen fundoplication was successfully completed in all the patients. Follow up ranged from 3 to 18 months with a mean of 5.9 months. The mean symptom score decreased from 10.1 pre-operatively to 1.7 (p value < 0.001). Eight out of 9 patients (88%) had endoscopic resolution of oesophagitis. Seven patients (70%) were off medication following surgery while the remaining 3 (30%) were taking medication intermittently. Overall, 80% of the patients were satisfied with the surgery. One patient required re-exploration due to bleeding from a short gastric vessel. The most frequent post-operative complication was temporary dysphagia in 60% of patients, which improved with conservative management over 2 to 3 weeks. We concluded that laparoscopic Nissen fundoplication is a safe and effective procedure to treat patients with GERD.

Factors influencing wound infection following laparoscopic cholecystectomy.

Although risk factors for wound infection following conventional open cholecystectomy have been extensively studied in the literature, for laparoscopic cholecystectomy (LC) these have not been evaluated thoroughly. We studied factors that influence wound infection following LC. The aim of our study was to evaluate the incidence of wound infection following LC in low-risk patients and the factors that influence its causation. Over a 2-year period, 113 low-risk patients undergoing elective LC for symptomatic gall stone disease were included in this study. Nasal swab and abdominal skin swab cultures were taken one day prior to surgery to detect any aerobic organisms. Intraoperatively, gallbladder bile and a swab from the epigastric port were taken for aerobic and anaerobic culture. Post-operatively, a wound swab was taken from the infected port site (if any) and cultured to detect any aerobic and anaerobic organisms. The duration of preoperative hospital stay, operating time and intraoperative bile spillage were noted for each patient. The patients were evaluated on post-operative days 1, 7, 14 and 30 to look for any evidence of wound infection. Step-wise logistic regression analysis was performed to evaluate the factors influencing the occurrence of wound infection. Wound infection developed in 7/113 patients (6.3%) and was more common in patients who were positive for nasal Staphylococcus aureus (7.3% v. 4.1%, p not statistically significant), bactibilia (12.7% v. 1.5%, p < 0.01) and wound contamination at the time of surgery (13.9% v. 1.3%, p < 0.04). Step-wise logistic regression analysis showed a 13.2 times higher incidence of wound infection in patients who had bactibilia. Bactibilia is the most important predictor of wound infection in low-risk patients undergoing elective LC. As it may not be possible to diagnose which patients have bactibilia by routine investigation, it is advisable to use prophylactic antibiotics to reduce the incidence of wound infection.

Trichobezoars: Case Reports and Review ofLiterature

Bezoars arc masses of foreign material in the gut, which can be of four types: phytobezoars. trichobezoars. lactobezoars and food boluses. Phytobezoars arc the commonest among these. Stomach is the commonest site for bezoar formation. Bezoars can result in obstruction. irritation and damage to the gastric wall and malnutrition. They may present to the clinician with the complaints of pain abdomen, they may migrate into small intestine where they may cause obstruction or perforation, vomiting and malnourishment. Trichobezoars are associated with trichotillomania a disorder characterized by failure to resist impulse to pull out ones hair. In this article we review two cases. first was a case of twenty eight year old female who was diagnosed as a case of gastric trihobezoar and the second case was a thirty year old lady diagnosed as a case of perforation peritonitis due to trichobczoar in jejunum, with one part in the stomach.