Proximal Dominant Hereditary Motor and Sensory Neuropathy with TFG Mutation: First Case Report from India.

Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare degenerative disorder inherited in an autosomal dominant fashion. This disease was described first in Japanese descendants from Okinawa and Shiga prefectures in mainland Honshu in 1997. The disease is characterized by adult onset of proximal weakness and atrophy, muscle cramps, fasciculations, areflexia, high incidence of elevated creatine kinase, hyperlipidemia, and diabetes mellitus, resembling Kennedy disease, though the mode of inheritance is autosomal dominant, rather than X linked. We examined a 56-year-old male patient with clinical features suggestive of HMSN-P and positive family history in an autosomal dominant fashion. Clinical, electrophysiological, and genetic factors were also reviewed. The appearance of HMSN-P in India and elsewhere calls for clinicians in nonendemic regions to be familiar with this rare disorder, which has typically been geographically confined.

Cancer cervix: An uncommon malignancy in Kashmir, India.

OBJECTIVE: To study the distribution of cancers among females with particular emphasis on cancer cervix in Kashmiri population, which is geographically and socio-culturally distinct from the rest of India. MATERIALS AND METHODS: All patient records were screened from January 1, 2009 to December 31, 2011 at Regional Cancer Centre, Srinagar. Most common cancers among females were recorded and analysis of cancer cervix cases was performed. RESULTS: Female cancers comprised of 40% of total cancers with oesophageal and breast cancer as most common malignancies. Cancer cervix did not figure in top ten cancers and only 45 (0.01%) cases were recorded of the total of 3084 adult female cancers. CONCLUSION: We conclude that due to different socio-cultural and sexual practices, this cancer is highly uncommon in Kashmir and screening or possibly should be directed specifically at only high risk selective subjects.

Comparison of Serum CA72-4 and CEA Levels in Patient with Endoscopically Suspected Gastric Carcinoma.

Several serum tumour markers have been described for gastric cancer. Preoperative level of tumor marker helps to predict the diagnosis of gastric carcinoma. CA72-4 as a serum tumour marker for gastric cancer is evaluated, and compared its utility in this regard with that of carcinoembryonic antigen (CEA). Analysis of gastric carcinoma by serum levels of CEA and CA72-4 and their correlation with histopathology help the clinician to develop his management strategies for gastric carcinoma. A prospective observational study was carried out in the Department of Clinical Pathology, Bangabandhu Sheikh Mujib Medical University (BSMMU) in collaboration with Department of Surgery BSMMU, DMCH, Delta Hospital Limited, Dhaka, during the period of October 2010 to September 2011. Serum CA72-4 and CEA were analyzed in 71 endoscopically suspected patients for gastric carcinoma. Among them 58 cases were diagnosed as malignant gastric disease and 13 cases were nonmalignant gastric disease. Sensitivity of CA 72-4 and CEA were 48.3% and 31% respectively and specificity were 92.3% and 76.9% respectively. In poorly differentiated carcinoma, positivity for CA72-4 and CEA were 55.6% and 36.1% respectively. Because of the high positivity of CA72-4 in poorly differentiated carcinoma, CA72-4 is reliable tumour marker in advanced cases. As the sensitivity of CA72-4 was more than that of CEA in diagnosis of gastric cancer, CA72-4 can be used in conjunction with other diagnostic tests like endoscopy that would be more helpful for the patients.

Incidence of primary hypothyroidism in patients exposed to therapeutic external beam radiation, where radiation portals include a part or whole of the thyroid gland.

INTRODUCTION: Hypothyroidism is a known consequence of external-beam radiotherapy to the neck encompassing a part or whole of the thyroid gland. In this non-randomized prospective study, we have tried to evaluate the response of the thyroid gland to radiation by assessing thyroid function before irradiation and at regular intervals after irradiation. AIMS AND OBJECTIVES: THE AIM OF THIS STUDY WERE TO ASSESS IN THE CANCER PATIENTS, WHO WERE EXPOSED TO THE THERAPEUTIC EXTERNAL BEAM RADIATION, WHERE RADIATION PORTALS INCLUDE A PART OR WHOLE OF THE THYROID GLAND: the incidence of primary hypothyroidism, the time required to become hypothyroid, any relation between the total dose for the development of hypothyroidism, and whether there are any patient or treatment-related factors that are predictive for the development of hypothyroidism, including the use of concurrent chemotherapy. MATERIALS AND METHODS: This non-randomized, prospective study was conducted for a period of 2 years in which thyroid function was assessed in 59 patients (cases) of head and neck cancer, breast cancer, lymphoma patients and other malignancies, who had received radiotherapy to the neck region. 59 euthyroid healthy patients (controls) were also taken, who had not received the neck irradiation. These patients/controls were assessed periodically for 2 years. RESULTS: The incidence of hypothyroidism after external beam radiation therapy (EBRT) to neck where radiation portals include part or whole of the thyroid gland was 16.94%, seven cases had subclinical hypothyroidism (11.86%) and three cases had clinical hypothyroidism (5.08%). Mean time for development of hypothyroidism was 4.5 months. There was no effect of age, gender, primary tumor site, radiation dose and chemotherapy, whether neoadjuvant or concurrent with the development of hypothyroidism. CONCLUSION: In summary, we found that thyroid dysfunction is a prevalent, yet easily treatable source of morbidity in patients undergoing radiation therapy to neck where radiation portals include a part or whole of the thyroid gland.

A survey of risk factors in carcinoma esophagus in the valley of Kashmir, Northern India.

BACKGROUND/OBJECTIVE: Esophageal cancer has a peculiar geographical distribution and shows marked differences in incidence within a particular geographical region. Presently, as there seems little prospect of early detection of this cancer, an understanding of the etiological factors may suggest opportunities for its primary prevention. In this paper, we have tried to determine the role of diet and other life-style related factors in the etiology of cancer of esophagus. MATERIAL AND METHODS: A total of 100 confirmed squamous cell carcinoma of esophagus patients were enrolled for the study (Group A). 100 healthy subjects were included as controls (Group B). A predesigned questionnaire dealing with the basic patient data, dietary and smoking habits etc. was distributed among the cases in both groups. The data was thoroughly analyzed to define an association with the development of cancer of esophagus. RESULTS: Group A patients included 71 males and 29 females in the age range of 40-70 years. Majority 37% were farmers, 29% house wives. Of the 72% smokers, 66% smoked hookah. 29% had positive family history. More than 90% took salt-tea at breakfast. Meat consumption was low, 44% took it weekly and 42% on monthly basis. 69% took fish yearly. Group B included 75 males and 25 females of which 35.7% were hookah smokers. CONCLUSION: Poor socio-economic status resulting in fewer intakes of fresh fruits, vegetables and fish in addition to heavy hookah smoking are suspected to be the major risk factors for the development of esophageal cancer.

Profile of lung cancer in Kashmir, India: a five-year study.

AIM: To study the clinico-pathological aspects of lung cancer, and the outcome of various treatment modalities. METHODS: A retrospective review of histopathologically confirmed lung cancer patients who were registered and treated at our institution over a period of five years was carried out. RESULTS: A total of 321 patients were studied. There was a preponderance of males (91.9%) as compared to females (8.1%). Smoking history was present in 88% of the male patients. Cough was the main presenting feature in 71.6% of patients. Diagnosis was established by bronchoscopy in 94% of cases. Squamous cell carcinoma was observed in 77.3%, while 17.1% had small cell carcinoma. Radiotherapy formed the main treatment modality alone (22.4%) and in combination (27%). Out of the 321 patients, 206 were evaluable on follow-up. Local failure and distant metastasis were seen in 9.2% and 19.9% of cases, respectively. The overall survival rate of 2, 3 and 5 years was 19.9%, 13.59% and 6.79%, respectively. CONCLUSIONS: . The outcome of lung cancer is poor. Increased survival is possible if the disease is detected early, treated adequately with multi modality approach.