Hypoxia-induced factor-1 alpha, vascular endothelial growth factor expression in BRCA1-related breast cancer: A prospective study in tertiary care hospital.

INTRODUCTION: Breast cancer is the commonest cause of death among middle aged women. BRCA1 associated tumors carry a poor prognosis. Angiogenesis is considered necessary for tumor growth and for its metastasis. Hypoxia stimulates HIF-1α which then activates transcription of various proangiogenic cytokines like VEGF. In the present study we examined HIF-1α expression, sVEGF levels and BRCA1 mutations and their relation with clinicopathological parameters. We also determined whether the angiogenic markers have different role in angiogenesis in BRCA1 related cancers as compared to sporadic breast cancers. MATERIALS AND METHODS: The study was conducted on 50 cases of breast cancer specimens. Histopathological typing and grading was done followed by immunohistochemistry for BRCA1 and HIF-1α. VEGF was done in the serum by ELISA. RESULTS: All the tumors were infiltrating ductal carcinoma NOS. 16 cases were reported grade II and 34 cases as grade III. On immunohistochemistry, 27 cases showed BRCA1 positivity and HIF-1α was positive in 39 cases. sVEGF levels were increased in 21 cases (42%). BRCA1 positivity, HIF-1α expression and increased VEGF levels were significantly associated with higher grade and lymph node metastasis. There was significant correlation of BRCA1 positivity with increased HIF-1α expression (P = 0.009) and increased sVEGF levels (P = 0.005). CONCLUSION: Our findings suggest that BRCA 1 positive tumors have unique molecular profile and different mechanism of tumorigenesis. Such tumors are associated with increased HIF-1α expression and VEGF levels.

Anatomical observations including morphometric pattern of foramina transversaria of atlas vertebrae in North Indians

The Foramen Transversarium (FT) is the result of a special formation of cervical transverse processes formed by fusion of vestigial costal elements to the body and true transverse process of the atlas that transmits the vertebral vascular bundle. The aim of this study was to investigate the morphology and variations, if any, in the FT of the atlas which can compromise the course of the vertebral artery leading to its insufficiency. Sixty foramina transversaria of 30 dry adult human atlas vertebrae obtained from the Anatomy Department, Government Medical College, Amritsar, Punjab, India, were employed to carry out this study. Linear measurements of FT Length, Width and Depth were carried out with the help of a vernier caliper. On the basis of shape, 5 different types of FT, i.e. Rounded, Elliptical-Anteroposterior, Elliptical Transverse, Elliptical Right-Left and Elliptical Left Right, were classified. The presence of unilateral and bilateral accessory foramina transversaria was also noted. Results indicate that the mean of right and left sides of FT Length was 6.81 mm, Width 5.28 mm and Depth 5.39 mm respectively. The most common shape of the FT was Type 4 with highest frequency of 56.6% (17) on the right side and 33.3% (10) on the left side. Out of 30 vertebrae, only 7(23.3%) presented accessory FT, 4 (13.3%) showed single FT, 1 (3.3%) showed double FT unilaterally on the left side and 2 vertebrae (6.6%) presented single accessory FT bilaterally. To conclude, morphological and morphometric knowledge of the FT is clinically important as the Vertebral Artery passing through it contributes blood supply not only to the brain, but also to the inner ear, and its compression may lead to neurological and labyrinthine disturbances. FT variations are also helpful in the interpretation of radiographic pictures or CT scans for diagnostics

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Cutaneous metastasis of medullary carcinoma thyroid masquerading as subcutaneous nodules anterior chest and mandibular region.

Cutaneous metastasis of underlying primary malignancies can present to dermatologist with chief complaints of cutaneous lesions. The underlying malignancy is generally diagnosed much later after a complete assessment of the concerned case. Medullary carcinoma thyroid (MCT) is a relatively uncommon primary neoplasia of the thyroid. Very few cases presenting as cutaneous metastases of MCT have been reported in the literature. Most of the cases which have been reported are of the papillary and the follicular types. We here report a case of a patient who presented in the dermatology clinic with the primary complaint of multiple subcutaneous nodules in anterior chest wall and left side of body of mandible. By systematic application of clinical and diagnostic skills these nodules were diagnosed as cutaneous metastasis of MCT bringing to the forefront a history of previously operated thyroid neoplasm. So clinically, the investigation of a flesh coloured subcutaneous nodule, presenting with a short duration, particularly in scalp, jaw, or anterior chest wall should include possibility of metastastic deposits. A dermatologist should keep a possibility of an internal organ malignancy in patients while investigating a case of flesh coloured subcutaneous nodules, presenting with short duration. A systematic application of clinical and diagnostic skills will eventually lead to such a diagnosis even when not suspected clinically at its primary presentation. A prompt and an emphatic diagnosis and treatment will have its bearing on the eventual outcome in all these patients.

Bifid inverted palmaris longus muscle - a case report

A bifid inverted Palmaris longus muscle was identified during routine cadaveric dissection while teaching undergraduate students. The muscle belonged to the right forearm of a 54-year-old male cadaver, and had a tendinous origin from the medial epicondyle of the humerus. Distally the muscle passed superficial to flexor retinaculum and bifurcated into a muscular slip and a fascial slip. The muscular slip further descended down and became continuous with the hypothenar muscle and the fascial slip inserted into palmar aponeurosis. The total length of the inverted palmaris longus muscle till bifurcation was 28.0 cm. The length of the muscular slip of the insertion was 2.6 cm, and the length of the fascial slip of the insertion was 3.1cm. Such anatomic variation can lead to compression of the median and ulnar nerves

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Cytological diagnosis of follicular carcinoma thyroid metastasis in pelvic muscles-a rare and unusual site.

Distant metastasis of thyroid neoplasm as an initial presentation is rarely encountered. The present case report describes a chance diagnosis of follicular carcinoma thyroid (FCT) metastasis in a 75-year-old female who was presented with symptoms related to pelvic mass. This is a rare site of reporting as only three cases have been reported previously at the first diagnosis. It is important to identify the presence of distant metastasis as it is the most important prognostic indicator (associated with 50% mortality). This is significant as this has a direct bearing upon its treatment and managing the patient. Hence more awareness is required by both diagnosticians and clinicians regarding this.

Morphometric analysis of lateral masses of axis vertebrae in north indians.

Background and Objective. The lateral masses of axis have good cancellous bone quality beneath the articular surface of facets that make this area a good site for the insertion of an internal fixation device. Methods. 60 dry axis vertebrae were obtained for anatomic evaluation focused on pedicle, superior and inferior articular facets, and foramen transversarium. Based upon linear and angular parameters the mean, range, and standard deviation were calculated. Results. The mean length, width, and height of the pedicle were 21.61 ± 2.37 mm, 8.82 ± 2.43 mm, and 5.63 ± 2.06 mm. The mean pedicle superior angle and median angle were 23.3 and 32.2 degrees. The mean superior articular facet length, width, and external and internal height were 16.34 ± 1.56 mm, 14.35 ± 1.75 mm, 8.98 ± 1.36 mm, and 4.23 ± 0.81 mm. Depth of vertebral artery was 4.72 ± 0.83 mm. Mean inferior articular facet length and width were 11.13 ± 1.43 mm and 7.89 ± 1.30 mm. The mean foramen transversarium length and width were 5.11 ± 0.91 mm and 5.06 ± 1.23 mm. Conclusions. The study may provide information for the surgeons to determine the safe site of entry and trajectory for the screw implantation and also to avoid injuries to vital structures while operating around axis.

Cytologic-radiologic correlation using transthoracic CT-guided FNA for lung and mediastinal masses: our experience.

BACKGROUND AND OBJECTIVES: Thoracic lesions account for various benign and malignant conditions. Of these lung carcinoma (mainly primary) is the most common carcinoma in the world. The present study was undertaken to know the pathological spectrum of thoracic lesions and to correlate cytoradiological findings. MATERIALS AND METHODS: The present study was conducted in a tertiary care center of North India on 74 patients over an 18-month period. CT guided transthoracic FNAC (TTFNA) was carried out, and aspirates were drawn, examined, and compared with radiological diagnoses. RESULTS: The diagnostic accuracy for FNA in the present study was calculated to be 95.94% (using cytology as the gold standard). The predominant lesion was malignancy (85.1%), followed by suspicions of malignancy and inflammatory pathology (5.40% each). By cytology, the most common malignant lesion was adenocarcinoma (48%) followed by squamous cell carcinoma (40%), small cell carcinoma (8%), and undifferentiated carcinoma (4%). Cytoradiological correlation was found to be 89.2% in the present study. CONCLUSION: Present study thus concludes that TT FNA of thoracic lesions is a simple, safe, economically prudent technique associated with low morbidity and leading to quick and early diagnosis.

Changes in megakaryocytes in cases of thrombocytopenia: bone marrow aspiration and biopsy analysis.

BACKGROUND: Thrombocytopenia (platelet counts less than 150,000/µl) is commonly encountered in various hematological disorders including myelodysplastic syndromes as well as various non-myelodysplastic hematological conditions. AIM: The present study was undertaken to calculate the prevalence of various conditions associated with thrombocytopenia and to record the megakaryocytic alterations in various cases of thrombocytopenia. Apart from this by means of statistical analysis it was tried to analyze whether a significant difference existed in megakaryocytic alteration noted in myelodysplastic versus non- myelodysplastic conditions. MATERIALS AND METHODS: A prospective series of 60 bone marrow aspirations along with concomitant bone marrow biopsies was conducted in a tertiary care centre catering to both urban as well as rural population in north India. STATISTICAL ANALYSIS: The distribution of morphological changes in cases of non myelodysplastic conditions and myelodysplastic were compared using Chi-Square test. A p-value less than 0.05 was considered significant. RESULTS: The commonest cause of thrombocytopenia for which bone marrow examination was sought was dimorphic anaemia (18 cases, 30%), followed by myelodysplastic syndrome (06 cases, 10%) which was followed equally by acute lymphocytic leukemia and blast crisis of chronic myeloid leukemia (CML). Of all the non-MDS conditions apart from dimorphic anaemia, idiopathic thrombocytopenic purpura and chronic myeloid leukemia (blast crisis); megakaryocytic dysplastic forms were not noted in any other condition. In cases of myelodysplasia; dysplastic forms, bare megakaryocytic nuclei, hypogranular forms and micromegakaryocytes were seen. Comparison between frequencies of normal, high and low number of nuclear lobes among MDS (n=9) and non MDS (n=68) conditions were found to be statistically significant. CONCLUSION: Further studies on the evaluation of megakaryocytic alteration and their contribution to thrombocytopenia can provide growing knowledge to the pathogenesis of numerous hematopoietic disorders that may identify broader clinical applications of the newer strategies to regulate platelet count and functioning.

NESTROFT - A Valuable, Cost Effective Screening Test for Beta Thalassemia Trait in North Indian Punjabi Population.

BACKGROUND AND OBJECTIVES: Beta-thalassemia continues to be a cause of significant burden to the society, particularly in the poorer developing countries. The objective of the present study was to evaluate the validity of "NESTROFT" (Naked Eye Single Tube Red Cell Osmotic Fragility Test) as a useful screening tool in the diagnosis of beta thalassemia trait. MATERIAL AND METHODS: The present study was conducted on 150 subjects in the department of haematology in a tertiary health care center in north Indian state of Punjab. In group I, 111 cases diagnosed as microcytic hypochromic anaemia were selected. In group II, 39 individuals (the family members of known cases of beta thalassemia major) were selected. Complete haemogram, NESTROFT and HbA2 levels by electrophoresis were done and the results were tabulated and analyzed statistically. RESULTS: Of the 111 cases in group I, 20 (18%) gave positive results with NESTROFT while 91 cases (82%) tested negative. In group II, out of 39 cases, 30 (76.92%) tested positive with NESTROFT while 9 gave a negative result. In group I, out of 20 NESTROFT positive cases, only 3 had HbA2 levels more than 3.5%. In group II, all the 30 NESTROFT positive cases had HbA2 levels more than 3.5%. The test showed a sensitivity of 100%, specificity of 85.47%, a positive predictive value of 66% and a negative predictive value of 100%. CONCLUSION: Thus, NESTROFT is a valuable, cost-effective screening test for beta thalassemia trait and appears to be a valid test in rural setting with financial constraints.