Association of Versican (VCAN) gene polymorphisms rs251124 and rs2287926 (G428D), with intracranial aneurysm.

Intracranial aneurysm (IA) accounts for 85% of Subarachnoid Hemorrhage (SAH) and is mainly caused due to the weakening of arterial wall. The structural integrity of the intracranial arteries is mainly influenced by the extracellular matrix (ECM) remodeling. The Proteoglycan Versican plays an important role in extracellular matrix assembly and plays a major role in the pathogenesis of IA.

Acute esophageal necrosis: an uncommon cause of hematemesis.

Acute esophageal necrosis or black esophagus is an uncommon clinical entity, diagnosed at the upper gastrointestinal endoscopy with the presence of strikingly black necrotic esophagus. Very often no definite etiology will be identified even though a large list of potential associations has been postulated. Upper gastrointestinal bleeding is the most common clinical presentation, others being epigastric pain, retrosternal chest discomfort and dysphagia.

Polycystic liver disease presenting as pruritus.

Polycystic liver disease (PCLD) is a rare autosomal dominant disorder which usually occurs in association with autosomal dominant polycystic kidney disease. Biliary obstruction is a rare complication of PCLD. Treatment options include percutaneous aspiration and sclerosis, surgical deroofing of cysts, liver resection or liver transplantation.

Atrial natriuretic peptide gene - a potential biomarker for long QT syndrome.

This study highlights the possible implication of NPPA (natriuretic peptide precursor A) gene in the etiology of Long QT syndrome (LQTS) by population-based as well as familial study. Three SNPs of NPPA - C-664G, C1363A and T1766C were examined by molecular analyses in LQTS, controls and first degree relatives (FDRs). This study revealed a possible association of 1364 C>A SNP 'C' allele with LQTS (p = 0.

Blunt abdominal trauma with transanal small bowel evisceration.

Small bowel evisceration through the anus can occur spontaneously or post traumatically. Traumatic transanal small bowel evisceration results from iatrogenic injuries, suction injuries, and blunt abdominal trauma (BAT). We report a 48-year-old female who presented with evisceration of small intestinal loops through the anus following BAT and discuss the etiologies and mechanisms of injury of this rare presentation.

Spontaneous bacterial peritonitis in extrahepatic portal venous obstruction.

Spontaneous bacterial peritonitis is defined by a positive ascitic fluid bacterial culture and an elevated ascitic fluid absolute polymorphonuclear count (≥250 cells/mm) without an evident intra-abdominal, surgically treatable source of infection. Transient ascites is well documented in patients with extrahepatic portal venous obstruction but spontaneous bacterial peritonitis complicating extrahepatic portal venous obstruction is extremely uncommon. The postulated reasons for the low incidence of spontaneous bacterial peritonitis in extrahepatic portal venous obstruction includes: lower incidence of ascites; intact hepatic reticuloendothelial system; and a relatively high ascitic fluid protein content.

Syphilis of Fungal world: Novel Skin Manifestations of Histoplasmosis in an Immunocompetent Host.

A case of chronic disseminated cutaneous histoplasmosis with unusual skin manifestations in an immunocompetent host is reported. Presence of cutaneous ulcers, linear erythematous plaques, skin coloured atrophic plaques and recurrent self-limiting oral ulcers in a single patient has not been documented in literature so far. Diagnosis was established by identifying small intracellular yeast-like cells of Histoplasma in tissue smear and skin biopsy.

Emphysematous pyelonephritis in a patient infected with the human immunodeficiency virus.

Emphysematous pyelonephritis (EPN) is a rapidly progressive and life-threatening infection that is seen most commonly in persons with diabetes. The infecting organisms usually consist of mixed flora, including Escherichia coli (68%), Klebsiella pneumoniae (9%) and Proteus mirabilis. Females are affected twice as often as men, and mortality rates can be as high as 80%.

Primary cerebellopontine angle melanoma: a case report and review.

Primary melanomas at the cerebellopontine (CP) angle are extremely rare and considered a diagnostic dilemma. With only 16 prior cases reported so far, there is not enough material in world literature. We report a 29-year-old male who presented with vertigo, headache and features of lower cranial nerve involvement with MRI revealing a melanotic lesion at CP angle.

Hematological Manifestations of SLE at Initial Presentation: Is It Underestimated?

SLE can present with hematological manifestations alone or along with features of other system involvement. With a low index of clinical suspicion or inadequate follow up the diagnosis may be delayed or missed at the time of presentation, in those with hematological abnormalities as the initial manifestation. An observational study was conducted among patients of SLE, in a tertiary referral centre of North Kerala, with the purpose of estimating the proportion of patients with hematological manifestations as the initial presentation of the disease and to study their nature.

Adult T-cell leukemia/lymphoma: a retroviral malady.

Adult T-cell leukemia/lymphoma (ATLL) is an aggressive leukemia/lymphoma of mature T-lymphocytes caused by human T-cell lymphotropic virus type 1 (HTLV-1). At a tertiary healthcare center in South India, a 58-year-old female presented with multiple erythematous, crusted, and umbilicated papules over the body along with cervical lymphadenopathy. The skin biopsy was consistent with cutaneous T-cell lymphoma.

Cerebral vein thrombosis misdiagnosed and mismanaged.

Cerebral venous thrombosis (CVT) should be considered in the differential diagnosis of all unexplained CNS disorders of sudden onset. Etiological factors are often subclinical forms of several common thrombophilic states occurring together, rather than the typical inherited and rare causes. Diagnosis is missed because of the heterogeneity in clinical presentation and etiological factors.

Determinants of quality of life in psoriasis patients: a cluster analysis of 50 patients.

Background: Although psoriasis generally does not affect survival, it certainly has a number of major negative effects on patients, demonstrable by a significant detriment to quality of life.

Aims: We have done a study with the objective of assessing the clinical variables adversely affecting quality of life in patients diagnosed with psoriasis.

Materials And Methods: This study is a cluster analysis of 50 consecutive consenting patients with psoriasis, of both sexes, aged over 18 years, attending the dermatology outpatient department of a tertiary care center.

Interesting effect of Malassezia spp. infection on dermatoses of other origins.

Background: Tinea versicolor (TV) is a superficial fungal infection affecting as many as 40% of the population in the tropics. We noticed an unusual affect of TV on dermatoses of other origins.

Methods: In this prospective clinical study, we examined patients attending our dermatology outpatient department over a period of one year for coexistence of TV with any unrelated dermatoses.

A 31-year-old female with fever and back pain.

Primary pyomyositis is a suppurative infection of striated muscle, the diagnosis of which is overlooked or delayed due to its rarity and vague clinical presentation. Though rare in the United States and temperate zones, pyomyositis is more frequently reported from tropical countries. The exact pathogenesis of pyomyositis is uncertain in most cases.

Splenic pseudocyst: a rare association with splenoptosis and vertebral segmentation anomalies.

Splenoptosis (wandering or ectopic spleen) is a congenital fusion anomaly of the dorsal mesogastrium in which the spleen is abnormally mobile due to its attachment by a long vascular pedicle. This abnormal mobility predisposes the spleen to complications such as torsion, infarction, gangrene and pancreatic necrosis. Pseudocyst formation is one of the rarely reported complications of splenoptosis.

Primary haemophagocytic syndrome in a young girl.

Haemophagocytic syndrome is a life-threatening systemic illness characterized by an uncontrolled inflammatory response. Patients present with fever, hepatosplenomegaly, jaundice and liver dysfunction, neurological manifestations and often pancytopenla. Bone marrow, lymph node, hepatic or splenic biopsy shows macrophages with Ingested blood cells or their precursors.

Purpuric macules with vesiculobullous lesions: a novel manifestation of Chikungunya.

Background: Chikungunya (CHIK) is an emerging viral disease with a myriad of cutaneous manifestations.

Aims: The aim of our study was to document the morphology and evolution of skin lesions in cases presenting with fever, purpuric macules and vesiculobullous lesions, to confirm its causative relationship with CHIK, and to investigate further in order to delineate possible mechanisms of bulla formation in these cases.

Materials And Methods: A prospective, descriptive hospital-based study was carried out at a tertiary health care centre in Kerala.

Rickettsial infection with hemophagocytosis.

A five-year-old girl admitted with scrub typhus developed multiple organ dysfunction associated with hyperferritinaemia, hypofibrinogenaemia and hyperlipidaemia. Bone marrow aspiration studies confirmed haemophagocytic lymphohistiocytosis (HLH). HLH is a syndrome characterized by the uncontrolled activation and proliferation of macrophages and T-cells and can occur together with infections, connective tissue disorders, malignancies and genetic disorders.