A Cross-Sectional Study on Molecular Detection of Helicobacter pylori cytotoxin-associated gene A and 16SrRNA Gene from Gastric Biopsy Specimens.

INTRODUCTION: The aim of the study is relative proportion of cytotoxin-associated gene A (cagA) virulence marker in Helicobacter pylori isolates and gastric biopsy samples by polymerase chain reaction (PCR). METHODS: This cross-sectional study was conducted at a tertiary care hospital setting. Gastric biopsy tissues from 200 patients, suffering from upper gastrointestinal tract disorders, were examined for H. pylori infection using methods, such as hematoxylin and eosin (H and E) staining, 16S rRNA (Ribosomal ribonucleic acid), and cagA gene PCR. Chi-square and kappa statistics were used to find the association and agreement between the tests, respectively; P ≤ 0.05 was considered statistically significant. Screening tests' accuracy was calculated in terms of sensitivity and specificity along with positive and negative predictive values. RESULTS: Out of 200 patients, H. pylori was detected in 14.5%, 48.5%, and 31% patients by H and E staining, 16S rRNA, and cagA PCR, respectively. Sensitivity and specificity of cagA PCR as compared to H and E staining were 89.6% and 78.9%, respectively. CONCLUSIONS: CagA detection directly from biopsy specimen by PCR can potentially and rapidly determine the patient's status, especially when at a higher risk of peptic ulcer.

Neu-Laxova Syndrome: An Unusual Association with Kyphosis.

The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis. Skin histology showed hyperkeratosis, edema and increased subcutaneous fat suggestive of ichthyosis. On the basis of gross and microscopic features seen, a diagnosis of Neu-Laxova syndrome was made.

Influence of Deviated Nasal Septum on Nasal Epithelium: An Analysis.

Nasal obstruction is one of the most common complaint that ENT surgeon faces in his day to day practice. Deviated nasal septum is the most common cause for the nasal obstruction. It causes altered airflow dynamics which leads to various histopathological changes in nasal mucosa.Histopathological changes like lymphocytic infiltration and squamous metaplasia were studied and comparison was done between convex and concave side. A prospective randomized study conducted on 42 patients of deviated nasal septum from January 2015 to December 2015 selected from inpatient department of Otorhinolaryngology, KLES Dr. Prabhakar Kore Hospital and Medical Research Center, Belagavi. This study determined significantly higher rate of squamous metaplasia and lymphocytic infiltration in septal mucosa on concave side when compared with convex side. Furthermore, there was increased lymphocytic infiltration and squamous metaplasia in lateral wall mucosa on concave side as compared to convex side but the difference was not statistically different. Deviated nasal septum predisposes the nasal epithelium to chronic inflammation and squamous metaplasia as a result of altered airflow. Due to changes in pathophysiology the patient is more susceptible to chronic rhinitis/rhinosinusitis.

Congenital High Airway Obstruction Syndrome (CHAOS): A perinatal autopsy case report.

INTRODUCTION: Congenital High Airway Obstruction Syndrome (CHAOS) is a rare anomaly where a partial or complete obstruction of upper airway is seen. As a consequence, the foetus develops enlarged lungs, inverted or flattened diaphragm and ascites. The pathological findings in a case of CHAOS is presented. CASE REPORT: A 28-year-old primigravida presented with a history of 5 months of amenorrhoea. Ultrasonography revealed enlarged echogenic lungs, cardiac mid-position, inverted diaphragm, foetal ascites and talipes of left foot. The parents opted for termination of pregnancy. Foetal autopsy revealed a male foetus with ascites and talipes of left foot. Lungs were massively enlarged, diaphragm was flattened. A dome-shaped cricoid cartilage at the subglottic level was seen as the cause of obstruction. CONCLUSION: CHAOS is a rare anomaly. A foetal autopsy can be helpful in establishing the level and nature of the obstruction and in documenting other associated foetal anomalies.

Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome.

Fryns syndrome is a multiple congenital anomaly syndrome with an autosomal recessive inheritance. Here we describe the autopsy case findings of a 19-week male fetus, born out of a consanguineous marriage. The dissection revealed left-sided diaphragmatic hernia, resulting in pulmonary hypoplasia and shift of heart to the right side. In addition, anencephaly and spina bifida throughout the vertebral column were observed. All six criteria for Fryns syndrome were met. Such a presentation of Fryns syndrome associated with Craniorachischisis Totalis has not been reported so far. We have also tabulated the overlapping features of some multiple congenital anomaly syndromes that need to be distinguished at autopsy for an accurate diagnosis.

Blueprinting in assessment: A tool to increase the validity of undergraduate written examinations in pathology.

CONTEXT/BACKGROUND: Written examinations are the most commonly employed method for assessment of cognitive skills in medical education. The few disadvantages of essay questions are less number of questions, limited sampling, unfair distribution of questions over topics, vague questions etc., Blueprinting overcomes these issues, increasing the validity of examinations. OBJECTIVES: To describe the process of developing a blueprint for undergraduate written examinations in pathology; and to evaluate its effect as a tool to increase the content validity of assessment. METHODOLOGY: A workshop was conducted in the Department of Pathology to sensitize the faculty about the importance of blueprinting. A blueprint was prepared for written examinations in pathology, question papers were set accordingly and administered in preliminary examinations. Feedback was collected from the students and faculty to know their perceptions about the question papers with reference to blueprinting. RESULTS: The students and faculty felt that there was appropriate distribution of questions across topics (77% and 89%, respectively), appropriate weightage given to topics of public health importance (65% and 100%), examinations were fair (86% and 89%). All the faculty felt that blueprints aligns assessment with objectives and helps as a guide and to paper construction. CONCLUSIONS: Students were satisfied as blueprinting helped them to attempt examination better. The faculty who validated the blueprint felt that it helps in distribution of appropriate weightage and questions across the topics and blueprinting should be an integral part of assessment.

Bullous variant of familial biphasic lichen amyloidosis: a unique combination of three rare presentations.

A 55-year-old man presented with multiple, itchy papules and macules on the trunk and extremities. Histopathologic examination of biopsy specimens taken from three different lesions showed a subepidermal blister with amyloid deposits in the dermal papillae. No systemic disease or involvement of other organs was detected. The clinical and histological findings were compatible with a bullous variant of lichen amyloidosis (LA). Primary cutaneous localized amyloidosis usually presents with papular, macular or nodular lesions. Bullous lesions associated with LA are very rare. Furthermore, patient had seven other members in the family with similar lesions, which is also a rare occurrence. We report a case with a rare combination of biphasic, bullous variant of familial LA.

Thanatophoric dysplasia type I: a rare case report at fetal autopsy.

Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up.

Germ cell tumor of ovary with plenty of sarcoid like granulomas: A diagnosis on fine needle aspiration cytology.

Germ cell tumors of ovary with elements of two or more subtypes are relatively uncommon. Sarcoid-like granulomas are seen in rare association with dysgerminomas, a subgroup of germ cell tumors of ovary, which are again less common. Fine-needle aspiration cytology (FNAC) of the gonadal germ cell tumor, though not performed frequently, is of help when a gonadal mass does not require resection as in lymphoma which can be treated by chemotherapy. FNAC helps to diagnose this tumor and to rule out other lesions, including germ cell tumors. It is also an effective, rapid and reliable procedure for the diagnosis of germ cell tumors.

Primary mucinous eccrine adenocarcinoma of the scalp: a case report.

BACKGROUND: Lesions of primary mucinous carcinoma of the skin present as painless, papular or nodular masses with sizes ranging from 5 mm to 120 mm. Metastatic deposits from undiagnosed visceral and breast adenocarcinoma are virtually indistinguishable microscopically from sweat gland carcinoma and must be considered before a diagnosis of sweat gland carcinoma is made. CASE: A 60-year-old woman presenting with a swelling over the scalp of 1 year's duration was clinically diagnosed to have a sebaceous cyst. Fine needle aspiration cytology of the lesion showed malignant cells in a mucoid background. Histologic examination of the excised mass revealed nests of tumor cells floating in pools of mucin in the dermis. Many of these nests showed tubular lumina. A diagnosis of mucinous eccrine adenocarcinoma was given. CONCLUSION: Primary mucinous adenocarcinoma of the skin is a rare tumor and mimics metastatic adenocarcinoma. The scalp is the second common site for these rumors. Literature search regarding cytologic findings shows our case could be the second case reported so far.

Cardiac sarcoidosis causing sudden death.

Sarcoidosis is a systemic disease of young adults. Cardiac involvement is rarely diagnosed clinically. In most cases it presents with arrhythmias and conduction disorders. We report a case of sudden death of a young female, wherein sarcoidosis with prominent cardiac involvement was diagnosed at autopsy. The other organs involved were lung and liver. Cardiac sarcoidosis should be considered in young patients with unexplained conduction disorders.

Serous microcystic adenoma of the pancreas.

Serous microcystic adenoma (SMA) is a rare benign neoplasm. It accounts for 1-2% of all exocrine pancreatic tumors. It is thought to arise from the ductal epithelial cells. It is usually located in the body and the tail of the pancreas. It is important to identify SMAs and distinguish them from mucinous cystic neoplasm, which can be premalignant or malignant, and pseudocyst, which is a non neoplastic condition. We present one such rare case of SMA occurring in the head of the pancreas, an infrequent location requiring a Whippel's resection.

Primary endobronchial Hodgkin's disease.

We report a case of primary pulmonary Hodgkin's disease presenting as an endobronchial mass. Tissue diagnosis was made by microscopic examination following open thoracotomy and excision biopsy of the mass. The patient responded well to the chemotherapy regimen.

Isolated polycystic liver disease--a rare entity: report of a case.

A 45-year-old woman presented with a mass in the right hypochondrium and shortness of breath. The mass was felt up to 4.5 inches below the right costal margin and its dullness on percussion was continuous with liver dullness. Ultrasonography (USG) of abdomen revealed enlargement of the left lobe of the liver with multiple cysts of varying sizes. Left liver lobectomy was done, histology of which showed multiple cysts lined by cuboidal to columnar epithelium. A small amount amount of normal liver parenchyma between the cysts was observed. A diagnosis of Adult polycystic liver disease (APLD) was given.

Orbital Rosai-Dorfman disease: report of a case with fine needle aspiration cytology and histopathology.

BACKGROUND: Rosai-Dorfman disease, or sinus histiocytosis with massive lymphadenopathy (SHML), is a rare, nonhereditary, benign histiocytic proliferative disorder, affecting mainly the lymph nodes. Orbital involvement in the absence of lymphadenopathy is relatively uncommon. CASE: A 50-year-old woman presented to our hospital with gradual proptosis of the left eye for 5 years. Physical examination revealed no abnormalities, including lymphadenopathy. Ultrasonography and magnetic resonance imaging showed a soft tissue mass in the intraconal retroorbital region of the left eye. Fine needle aspiration cytology of the mass yielded a good number of mature lymphocytes, a few neutrophils, plasma cells and many histiocytes exhibiting emperipolesis. A provisional diagnosis of SHML was suggested and later confirmed by histology of the excised mass. CONCLUSION: Though the orbit is a rare site of extranodal SHML, the disease should be entertained in the differential diagnosis of orbital swellings. To the best of our knowledge, this is the fourth case of SHML involving the orbit exclusively, with no nodal involvement.

Tubercular orchitis in a patient with AIDS: report of a case with fine needle aspiration diagnosis.

BACKGROUND: Although tuberculosis is one of the most common opportunistic infections in AIDS, the testis is rarely involved. Clinically, tubercular orchitis mimics malignancy. Fine needle aspiration (FNA) can be used to distinguish these 2 lesions. CASE: A 34-year-old, heterosexual male presented with right scrotal swelling, loss of weight and fever. Clinically, malignancy was suspected. FNA showed a few lymphocytes and neutrophils in a necrotic background. Ziehl-Neelsen staining showed high acid-fast bacillus positivity. Serologic testing for HIV showed seropositivity for HIV I and II antibodies. CONCLUSION: FNA is a useful modality in differentiating tuberculosis from malignancy. In developing countries, tuberculosis should be considered in cases of unilateral testicular enlargement. To the best of our knowledge, this is the third reported case of AIDS presenting as testicular tuberculosis.