A rare case of Creutzfeldt-Jakob disease reported from Nepal.

Creutzfeldt-Jakob disease, though rare, should be considered in the clinical picture of rapidly progressive dementia and absence of verbal response as evident in our case despite the absence of typical radiological picture.

Abdominal Wall Hernias: An Epidemiological Profile and Surgical Experience from a Rural Medical College in Central India.

Background Abdominal wall hernia is a common surgical entity worldwide with groin hernias having the most common presentation among them. They are a cause of morbidity and mortality if not addressed in time. A variety of surgical methods are available for the repair of hernias. The tension-free repair using synthetic mesh has the least recurrence and is the most accepted. Aim To describe the surgical burden and clinical profile of abdominal wall hernias as well as experiences in their management in a rural setup. Methods This was a retrospective observational study of all the cases of abdominal wall hernias presenting to various surgical divisions of Mahatma Gandhi Institute of Medical Sciences, Sevagram, during a two-year period from December 2011 to November 2013. Relevant details were collected from the hospital information statistics and patient file records and analysis of obtained data was done. Result A total of 910 out of 90,056 surgical outpatients (10.10%) seen during this period had abdominal wall hernias; 816 (89.67%) got operated. A total of 163 (20%) of 816 were operated in an emergency. Groin hernias were the most common 653 (80%), followed by incisional 82 (10%), umbilical and paraumbilical 41 (5%), epigastric 33 (4%), and rarer hernias in 8 (1%). Of 816 operations, 24 (2.9%) had recurrent hernias and 83 (10.17%) were pediatric patients. Male to female ratio was 9:1 in adults and 4:1 in children. The median age among adults was 49 years (range: 14-95 years), and among the pediatric age group, it was 7 years (range: 3 months-14 years). The majority of the adult patients were from a low-income group and presented more than 2 years after symptoms appeared. Comorbid conditions encountered were hypertension in 212 (26%), diabetes in 155 (19%), chronic airway disorders in 449 (55%), cardiac problems in 163 (20%), obesity in 10 (1.2%), and chronic renal failure and liver disorder in 82 (1%). Predisposing factors in the majority of the patients were chronic cough 449 (55%), prostatic problems in 187 (23%), chronic constipation in 163 (20%), previous surgeries in 82 (10%), obesity in 10 (1.2%), and ascites in 9 (0.1%). Hernia surgery was performed laparoscopically in 51 (6.25%) patients. Simultaneous other surgeries were performed in 130 (16%) patients. Mortality occurred in 2 (0.24%) patients operated in emergency, and chief morbidity was due to wound infection in 25 (3%) and chronic pain in 30 (3.9%) patients. Conclusion Abdominal wall hernias are common clinical entities. Although the pattern of presentation and management is similar, the challenges faced in a rural setup are due to ignorance, social inhibitions, and financial restraints, leading to delayed presentations which increase their morbidity and mortality. Health programs and surveys to increase awareness in rural areas as well as cutting down on expenses could help these patients.

Transvaginal laparoscopic appendectomy using innovative submucosal tunnels: a conducive modification for improving hybrid NOTES access and its critical appraisal.

Currently, transvaginal natural orifice transluminal endoscopic surgery (NOTES), the most minimally invasive option for laparoscopic surgery, suffers various technological restraints limiting its implementation. We discuss a simple modification for vaginal access to improve the existing hybrid NOTES technique. We retrospectively studied 18 women at our rural hospital in central India, who, under defined criteria, underwent transvaginal appendicectomy using innovative strategically designed submucosal tunnels. The procedure was successfully completed in all but the first three cases. None required additional abdominal trocar or analgesia beyond the first 6 h. The mean operative and hospitalisation times were 27.5 min and 18.5 h, respectively. We had no intraoperative complications and only one patient experienced postoperative self-limiting vaginal spotting. All patients were very pleased with the cosmetic results and sexual life as assessed by locally devised scales. On regular follow-up, all were progressing well. We recommend the method presented, as it is not only feasible and safe but has the potential to improve overall results. Clearly, a larger volume randomised trial would be optimal to confirm our conclusion.

Preliminary Study on Serum Lactate Dehydrogenase (LDH)-Prognostic Biomarker in Carcinoma Breast.

INTRODUCTION: Serum Lactate Dehydrogenase (LDH) is one of the biochemical markers for breast cancer. Serum LDH is enzyme required for anaerobic glycolysis. One of its isoenzyme is increased in breast cancer due to up-regulation in its gene. It leads to increase in serum LDH level in breast cancer patients. Serum LDH is economical, easily available and easy to estimate. AIM: In the present study, we evaluated the LDH levels in circulation of newly diagnosed patients of breast cancer and tried to correlate it with different TNM staging of carcinoma breast before interventions and after adjuvant therapy of these patients. MATERIALS AND METHODS: This prospective study was done on 83 diagnosed patients of breast cancer was conducted among poor patients in rural area. This study was conducted in the Department of Surgery between October 2008 to October 2010, at MGIMS, Sevagram, Maharashtra, a rural medical college located in Central India. Out of total 83 participants, 10 participants were having adverse events following surgery and remaining 73 participants were without adverse events following surgery. The significant difference in serum LDH levels between two groups, with and without adverse surgical outcome was calculated by Mann-Whitney U test. RESULTS: Patients with higher clinical TNM staging were having higher serum LDH levels. The serum LDH levels at sixth months following surgery showed a trend of statistically significant difference between patients with and without adverse events. As increased serum LDH levels in breast cancer patients shows poor prognosis, surgical outcome or advanced metastases. CONCLUSION: Serum LDH monitoring can be used as a prognostic biomarker in patients of breast cancer. For confirmation of this finding, we require further more studies on larger sample size and long-term follow-up in patients specifically with higher serum LDH levels.

Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population.

BACKGROUND: Genetic factors cause about 15% of male infertility. Azoospermia factors (AZFa, AZFb, and AZFc) present on Yq are most important for spermatogenesis. We have made an attempt to evaluate the frequencies of microdeletions of AZFa, AZFb, AZFc in idiopathic cases of azoospermia and oligozoospermia from central Indian population. MATERIALS AND METHODS: We have analyzed a total of 156 subjects (95 oligozoospermia and 61 azoospermia) & 50 control subjects. DNA samples were analyzed for microdeletions of Y chromosome by PCR-screening of 18 sequences-tagged-site (STS) markers from different region of the AZF on Yq and SRY on Yp. RESULTS: Out of 156 cases analyzed, 13 (8.33%) subjects (8 azoospermia and 5 oligozoospermia) showed partial deletion of AZF regions, of which deletion in AZFc region was the most common (84.6%) followed by AZFb (15.4%) and AZFa (15.4%). The sites and sizes of deletions varied among patients. Histological study of the testicular tissue of the available subjects, who showed microdeletions of Y chromosome, showed spermatogenic arrest at different stages. The frequency of Y chromosome microdeletion in our subjects was 8.33%. CONCLUSION: Some Indian studies reported low frequencies of microdeletions than that of our result. We suggest that the frequency of deletions may be affected by the involvement of different genetic factors, ethnic population and different geographical regions. PCR based Y chromosome screening for microdeletions will be useful and great help to infertility clinics for genetic counselling and assisted reproduction.

Delayed presentation of port-site metastasis from an unknown gastrointestinal malignancy following laparoscopic cholecystectomy.

Port-site metastasis (PSM) is often encountered during laparoscopic surgery in patients with malignancy. We report a 45-year-old woman who presented with a single PSM from papillary adenocarcinoma after undergoing laparoscopic cholecystectomy for calculus cholecystitis. Post cholecystectomy, a diagnosis of chronic cholecystitis was confirmed on histopathology. The patient presented with a mass at the site of epigastric port 28 months after surgery. PSM was suspected on clinical examination, which was supported by findings on computed tomography and further confirmed by fine-needle aspiration cytology of the lump. The patient underwent surgical clearance of the mass, and histopathological examination proved the lesion to be papillary adenocarcinoma. The site of the primary tumour was not detected even after thorough examination. Based on the histopathology report following local surgical clearance, the patient was started on chemotherapy. This case is unusual because of the long delay prior to the presentation of PSM and the unknown primary malignancy.

Evaluation of foot problems among diabetics in rural population.

INTRODUCTION: Diabetes is the most common metabolic disease encountered by a surgeon. A sound knowledge of symptomatology, clinical signs and etiology can prevent most of the disease burden and complications and thus reduce social burden. The study tells about common foot problems among diabetes and correlates it with the awareness among people. AIM AND OBJECTIVES: The study aims to obtain an initial and representative data sample to identify the common pedal complications of diabetes mellitus and to provide an initial projection for the development of a podiatric foot health education program within the Hospital-Medical Centre Complex. MATERIALS AND METHODS: 500 diabetic patients were examined of whom 52 had diabetic foot lesions. The symptoms, signs and grade of foot lesion were cross studied with duration, type and occupation of patient. Chi square test was performed and a probability value of p <0.05 was considered significant. CONCLUSION: The prevalence of diabetic foot in a hospital based rural diabetic population was observed to be 10.4%. Foot lesion were common in the age group 41-60 years. The most common symptom was numbness in foot ( 40.6%) and was more common in long duration diabetes, Type II diabetes and outdoor workers. Common foot deformity observed were callosities (54.6%) and Hallux valgus/ varus (28%). The least common was Charcot's deformity (3.6%). Ulceration (23%) and amputation (5.7%) were higher in outdoor workers. Wagner's grade 2 lesions were the most common foot lesion with diabetic foot. The questionare regarding knowledge, awareness and foot care showed. 99.8% did not inspect the feet properly and 74% washed their feet properly.

Percent surface area involvement is a predictor of lymph node metastasis in endometrial cancer.

OBJECTIVE: To determine if percent surface area involvement (SAI) of tumor in endometrial cancer is predictive of lymph node metastasis. METHODS: A retrospective study was performed of all patients diagnosed with endometrial cancer at Magee Women's Hospital between January 1990 and December of 1995. Papillary serous and clear cell histologic subtypes were excluded. Pathology reports were reviewed for percent SAI, myometrial invasion, grade, histologic subtype, lymphovascular space invasion, and lymph node metastasis. Percent SAI was categorized into three groups: <35%, 35-80%, and >80%. The primary outcome variables were pelvic or periaortic lymph node metastasis. Univariate and multivariate analysis logistic regression models were used to determine predictors of nodal metastasis. RESULTS: Of 558 patient records reviewed, 319 had lymph node dissections performed and 42 (13%) of those patients had positive lymph nodes. Two of 79 (3%) patients with <35% SAI had lymph node metastasis, 17 of 165 (10%) patients with 35-80% SAI had lymph node metastasis, and 23 of 75 (31%) patients with >80% SAI had lymph node metastasis. The percent SAI was significantly associated with lymph node metastasis (p<0.001). Multivariate logistic regression indicated that for patients with >80% SAI, the odds of having lymph node metastasis were 10.8 times (CI 1.3-90.4) that for patients with similar tumor histology, grade, and invasion, but <35% SAI (p=0.03). A subset analysis of patients with superficial myometrial invasion was performed and 16% of patients with <50% myometrial invasion and >80% SAI had positive lymph nodes, while only 1.4% of patients with <50% myometrial invasion and <35% SAI had positive lymph nodes (p=0.02). CONCLUSION: Our analysis indicates that percent SAI is an independent risk factor for lymph node metastasis. Furthermore, assessing SAI with myometrial invasion gives a more accurate prediction of lymph node metastasis than myometrial invasion alone. This becomes clinically relevant when assessing risk factors for lymph node metastasis intraoperatively.

Evaluation of Her-2/neu gene status in osteosarcoma by fluorescence in situ hybridization and multiplex and monoplex polymerase chain reactions.

CONTEXT: Previous reports suggest that the human epidermal growth factor 2 (HER-2/neu) receptor may be overexpressed in osteosarcoma. OBJECTIVE: To determine whether osteosarcomas have amplifications of the HER-2/neu gene. DESIGN: We studied a series of osteosarcomas by fluorescence in situ hybridization (FISH) and by 2 real-time polymerase chain reaction assays that measure the amount of HER-2/neu DNA relative to a control gene. The HER-2/ neu monoplex and multiplex assays were capable of identifying those cases of breast cancer that were known to overexpress HER-2/neu as assessed by FISH. We initially studied 21 cases of osteosarcoma by FISH analysis (using a technique that included a probe for chromosome 17), 11 of which had their HER-2/neu gene amplification status previously reported. RESULTS: None of these osteosarcoma cases showed HER-2/neu amplification by our FISH analysis and subsequent quantitative (multiplex) polymerase chain reaction. Apparent expression of HER-2/neu protein was observed in several of the cases but the immunoreactivity was localized to the cytoplasm and was not membranous in character. An additional 35 osteosarcoma specimens were subjected to monoplex polymerase chain reaction analysis, and amplifiable DNA was recovered from 19 specimens (54%). None of these samples had HER-2/neu amplification by monoplex PCR analysis and only one case had membranous immunoreactivity graded as 1+. CONCLUSION: Although a small subset of osteosarcomas had weak noncircumferential membranous immunoreactivity for HER-2/neu protein, no osteosarcomas demonstrated positive (2+ or 3+) immunoreactivity for HER-2/ neu protein and none showed HER-2/neu gene amplification by either FISH or polymerase chain reaction.

Database construction for improving patient safety by examining pathology errors.

A critical component of improving patient safety is reducing medical errors. "Improving Patient Safety by Examining Pathology Errors" is a project designed to collect data about and analyze diagnostic errors voluntarily reported by 4 academic anatomic pathology laboratories and to develop and implement interventions to reduce errors and improve patient outcomes. The study database is Web-mediated and Oracle-based, and it houses de-identified error data detected by cytologic-histologic correlation and interdepartmental conference review. We describe the basic design of the database with a focus on challenges faced as a consequence of the absence of standardized and detailed laboratory workload and quality assurance data sets in widely used laboratory information systems and the lack of efficient and comprehensive electronic de-identification of unlinked institutional laboratory information systems and clinical data. Development of these electronic data abstraction capabilities is critical for efforts to improve patient safety through the examination of pathology diagnostic errors.

Cardiac murmur prompting diagnosis of metastatic nonseminomatous germ cell testicular neoplasia in an 18-year-old patient.

Most retroperitoneal tumors such as renal cell carcinoma have been associated with tumor thrombus extending into the renal vein, inferior vena cava (IVC), and heart. The retroperitoneal metastatic potential of testicular tumors is well known. We report here the first instance of a cardiac murmur prompting diagnosis of metastatic testicular neoplasia in an 18-year-old patient. Chemotherapy was delayed and after successful surgical resection of the ventricular mass, the patient recovered uneventfully. This case underscores the need to pursue abnormal cardiac exams in newly diagnosed testicular cancer patients.

Implementation and evaluation of a negation tagger in a pipeline-based system for information extract from pathology reports.

We have developed a pipeline-based system for automated annotation of Surgical Pathology Reports with UMLS terms that builds on GATE--an open-source architecture for language engineering. The system includes a module for detecting and annotating negated concepts, which implements the NegEx algorithm--an algorithm originally described for use in discharge summaries and radiology reports. We describe the implementation of the system, and early evaluation of the Negation Tagger. Our results are encouraging. In the key Final Diagnosis section, with almost no modification of the algorithm or phrase lists, the system performs with precision of 0.84 and recall of 0.80 against a gold-standard corpus of negation annotations, created by modified Delphi technique by a panel of pathologists. Further work will focus on refining the Negation Tagger and UMLS Tagger and adding additional processing resources for annotating free-text pathology reports.

Perforated acute appendicitis in a term neonate.

Acute appendicitis is rare in term neonates. In most of the reported cases, it is seen as a complication of necrotizing enterocolitis, Hirschsprung's disease, cystic fibrosis, meconium plug, inguinal hernia, umbilical hernia, Group B Streptococcal septicemia and chorioamnionitis. A surviving term male newborn with isolated acute appendicitis with perforation is reported. A high index of suspicion of acute appendicitis, early surgery and the importance of a thorough search for a perforation in cases of neonatal acute abdominal distention is stressed. Literature of this rare condition is reviewed briefly.

Evaluation of a deidentification (De-Id) software engine to share pathology reports and clinical documents for research.

We evaluated a comprehensive deidentification engine at the University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA, that uses a complex set of rules, dictionaries, pattern-matching algorithms, and the Unified Medical Language System to identify and replace identifying text in clinical reports while preserving medical information for sharing in research. In our initial data set of 967 surgical pathology reports, the software did not suppress outside (103), UPMC (47), and non-UPMC (56) accession numbers; dates (7); names (9) or initials (25) of case pathologists; or hospital or laboratory names (46). In 150 reports, some clinical information was suppressed inadvertently (overmarking). The engine retained eponymic patient names, eg, Barrett and Gleason. In the second evaluation (1,000 reports), the software did not suppress outside (90) or UPMC (6) accession numbers or names (4) or initials (2) of case pathologists. In the third evaluation, the software removed names of patients, hospitals (297/300), pathologists (297/300), transcriptionists, residents and physicians, dates of procedures, and accession numbers (298/300). By the end of the evaluation, the system was reliably and specifically removing safe-harbor identifiers and producing highly readable deidentified text without removing important clinical information. Collaboration between pathology domain experts and system developers and continuous quality assurance are needed to optimize ongoing deidentification processes.

Utility of four-quadrant random sections in mastectomy specimens.

Standard practice in surgical pathology dictates that random sections from the four quadrants of the breast be taken in mastectomy specimens. These sections are obtained in addition to sampling of any grossly visible lesions within the breast specimen. While tradition dictates the submission of these sections, we are unaware of any study supporting their efficacy. We have investigated the utility and significance of these random sections in a series of 78 mastectomy specimens. This retrospective study identified mastectomy specimens from pathology files of Magee Woman's Hospital, the University of Pittsburgh, and the University of Utah School of Medicine between 1997 and 2000. Clinical data (palpable versus nonpalpable), radiographic features (mammographic diagnosis, presence of mass density and/or calcification), and pathologic features (size, histopathologic type, etc.) were studied. The histologic sections of the cases were reviewed and the random sections were specifically studied for pathologic findings. Diagnosis and clinically significant features obtained from examining these random sections, but not demonstrable in grossly selected sections, were tabulated. A total of 78 mastectomy specimens were analyzed. Diagnoses rendered were infiltrating ductal carcinoma (23), infiltrating ductal carcinoma with ductal carcinoma in situ (DCIS) (16), DCIS (25), infiltrating lobular carcinoma (4), biopsy cavity with no residual malignancy (4), infiltrating lobular carcinoma with lobular carcinoma in situ (3), invasive ductal and lobular carcinoma (1), adenoid cystic carcinoma (1), and atypical ductal hyperplasia (1). The number of random sections ranged from 2 to 17 (mean 9). Random sections provided additional information in 21 of 78 mastectomies (27%). The multifocal/multicentric nature of the lesion was diagnosed in 20 cases: DCIS (6), lobular carcinoma in situ and invasive (2), invasive ductal carcinoma (6), invasive and in situ ductal carcinoma (5), invasive lobular carcinoma (1), invasive ductal and lobular carcinoma (1). Additional findings include lymphovascular invasion (2 cases), atypical ductal hyperplasia (1), DCIS at the operative margin (1), DCIS within less than 1 mm of an operative margin (1), and atypical lobular hyperplasia (1). In the remaining 57 cases, random sections did not provide any additional information. Histologic examination of random sections from breast quadrants yielded important information about the presence of multifocality, multicentricity, vascular invasion, and margin involvement by carcinoma in only a minority of cases, many of which had a lobular morphology.

A knowledge-based approach to information extraction from surgical pathology reports.

We describe the development of a prototype system for knowledge-based information extraction from surgical pathology reports. The current system includes abstract problem solving methods and a frame-based knowledge representation of body parts, procedures, diseases, and findings for prostate and breast cases. The system currently extracts the organ, procedure, and diagnoses, and sets an agenda of goals for further processing. A potential advantage of this approach is the ability to increase specificity of information extraction.

Spectrum of congenital surgical malformations in newborns.

A prospective study to detect the frequency and distribution of congenital surgical malformations in a rural hospital setting in Maharashtra was carried out. A total of 3000 consecutive births over a 9-month period was included and the frequency of congenital malformations was 21.1 per 1000 births. Stillbirths were associated with a higher incidence of malformations (14.5%) as compared to live births (1.8%). The commonest systems affected were the gastro-intestinal tract and the genito-urinary tract (20.4% each) followed by the central nervous system (17.3%). Among the various possible risk factors studied, a higher incidence of congenital malformations was associated with increasing maternal age (> 35 years), higher gravida mothers (> G4), parental consanguineous marriages, previous history of abortions, maternal hypertension, etc.