Assessment of modified Rodnan skin score and esophageal manometry in systemic sclerosis: a study correlating severity of skin and esophageal involvement by objective measures.

Introduction: Systemic sclerosis (SSc) is a multisystem connective tissue disease characterized by immune-mediated activation of tissue fibroblasts and consequent fibrosis, vascular abnormalities, and inflammation. The skin and esophagus are the two most frequently involved organs in this disease. Data regarding the correlation between the severity of skin and esophageal involvement in SSc by objective measures are negligible so far.

PTPN22 1858 C/T Exon Polymorphism is not Associated with Graves' Disease in Kashmiri population.

Background: Graves' disease (GD) is a multifactorial autoimmune disease with contribution from both genetic and epigenetic factors in its causation. Association of genetic factors and GD has been extensively studied. Gene "protein tyrosine phosphatase nonreceptor 22" () is an important immunoregulatory gene preventing hyper responsiveness of T cells by negatively regulating their signal transduction.

Significant Pattern of Promoter Hypermethylation of UNC5C Gene in Colorectal Cancer and Its Implication in Late Stage Disease.

Background:The development of Colorectal Cancer (CRC) is a complex multistep process involving an accumulation of multiple genetic and epigenetic alterations. Epigenetic modifications, particularly DNA methylation in selected gene are recognized as common molecular alterations in human tumors. Netrin-1 receptors are aberrantly methylated in primary colorectal cancer.

Concordant association validates MGMT methylation and protein expression as favorable prognostic factors in glioma patients on alkylating chemotherapy (Temozolomide).

O-methylguanine-DNA methyltransferase (MGMT) promoter methylation and its subsequent loss of protein expression has been identified to have a variable impact on clinical outcome of glioma patients indicated for chemotherapy with alkylating agents (Temozolomide). This study investigated methylation status of MGMT gene along with in situ protein expression in malignant glioma patients of different histological types to evaluate the associated clinical outcome vis-a-vis use of alkylating drugs and radiotherapy. Sixty three cases of glioma were evaluated for MGMT promoter methylation by methylation-specific PCR (MS-PCR) and protein expression by immunostaining (IHC).

Healthcare-Associated Pneumonia and Hospital-Acquired Pneumonia: Bacterial Aetiology, Antibiotic Resistance and Treatment Outcomes: A Study From North India.

Background: Data regarding the comparative profiling of HCAP and HAP from developing countries like India are scant. We set out to address the microbial aetiology, antibiotic resistance and treatment outcomes in patients with HCAP and HAP.

Methods: 318 consenting patients with HCAP (n = 165, aged 16-90 years; median 60 years; 97 males) or HAP (n = 153; aged 16-85 years; median 45 years; 92 males) presenting to a tertiary care hospital in North India from 2013 to 2015 were prospectively recruited for the study.

A review on current status of antiviral siRNA.

Viral diseases like influenza, AIDS, hepatitis, and Ebola cause severe epidemics worldwide. Along with their resistant strains, new pathogenic viruses continue to be discovered so creating an ongoing need for new antiviral treatments. RNA interference is a cellular gene-silencing phenomenon in which sequence-specific degradation of target mRNA is achieved by means of complementary short interfering RNA (siRNA) molecules.

Association of HCV mutated proteins and host SNPs in the development of hepatocellular carcinoma.

Hepatitis C virus plays a significant role in the development of hepatocellular carcinoma (HCC) globally. The pathogenic mechanisms of hepatocellular carcinoma with HCV infection are generally linked with inflammation, cytokines, fibrosis, cellular signaling pathways, and liver cell proliferation modulating pathways. HCV encoded proteins (Core, NS3, NS4, NS5A) interact with a broad range of hepatocytes derived factors to modulate an array of activities such as cell signaling, DNA repair, transcription and translational regulation, cell propagation, apoptosis, membrane topology.

ACE I/D sequence variants but not MTHFR C677T, is strongly linked to malignant glioma risk and its variant DD genotype may act as a promising predictive biomarker for overall survival of glioma patients.

Objective: ACE I/D and MTHFR C677T gene polymorphisms can be seen as candidate genes for glioma on the basis of their biological functions and their involvement in different cancers. The aim of this study was to analyze potential association and overall survival between MTHFR C677T and ACE I/D polymorphism in glioma patients in our population.

Materials And Methods: We tested genotype distribution of 112 glioma patients against 141 cancer-free controls from the same region.

Glutathione S-transferase (GSTM1, GSTT1) polymorphisms and JOAG susceptibility: A case control study and meta-analysis in glaucoma.

Purpose: Glutathione S transferase (GST) polymorphisms have been considered risk factors for the development of glaucoma. The aim of the present study was to investigate the association of glutathione S-transferase GSTT1 and GSTM1 genotypes with juvenile open-angle glaucoma (JOAG) in Indian patients.

Methods: A case-control study was performed to investigate the associations of GSTM1 and GSTT1 in juvenile open-angle glaucoma.

Demographic and clinical profile of Multiple Sclerosis in Kashmir: A short report.

Background: Multiple sclerosis (MS) is a chronic autoimmune and inflammatory disease of the central nervous system (CNS). There have been only few population/hospital based studies on MS in India, and at the same time there is no data on its profile in Kashmir.

Methods: A total of 41 MS patients diagnosed on the basis of 2010 Revised Mc Donald criteria were enrolled in this study from Kashmir region of India.

Multiple sclerosis in Kashmir: Where we stand.

Multiple sclerosis (MS) is a disabling neurological disorder commonly diagnosed in young adults. Its causes still remain inexplicable and presently it can only be managed by different drug treatments. There has been a remarkable shift in MS perspective across world.

Sheehan syndrome.

Sheehan syndrome or postpartum hypopituitarism is a condition characterized by hypopituitarism due to necrosis of the pituitary gland. The initial insult is caused by massive postpartum haemorrhage (PPH), leading to impaired blood supply to the pituitary gland, which has become enlarged during pregnancy. Small sella turcica size, vasospasms (caused by PPH) and/or thrombosis (associated with pregnancy or coagulation disorders) are predisposing factors; autoimmunity might be involved in the progressive worsening of pituitary functions.

Nasopharyngeal Carcinoma: A 15 Year Study with Respect to Clinicodemography and Survival Analysis.

Nasopharyngeal carcinoma (NPC) is a rare malignancy in Kashmir with distinct pattern, hence we planned to study its clinicodemographic and survival profile. Kashmir has unique lifestyle and dietary habits which may be the source of carcinogenic compounds, most likely implicated in causation of NPC. A total of 148 patients of NPC registered from January 2000 to December 2014 were analyzed.

Impact of consanguineous marriages and degrees of inbreeding on fertility, child mortality, secondary sex ratio, selection intensity, and genetic load: a cross-sectional study from Northern India.

Background: The aim of our study was to understand the relationship between consanguineous marriages and reproductive outcomes.

Methods: A total of 999 families were recruited from five Muslim populations of Jammu region. Family pedigrees were drawn to access the family history and inbreeding status in terms of coefficient of inbreeding (F).

Sunitinib in metastatic renal cell carcinoma (mRCC): a developing country experience. Do our patients behave differently than the Western patients?

Background: Metastatic renal cell carcinoma (mRCC) has historically been refractory to cytotoxic and hormonal agents. IL-2 and IFN-α provide response in a minority of patients. Small molecule tyrosine kinase inhibitors and monoclonal antibodies have established a role in the setting of mRCC.

Giant Fecaloma Causing Small Bowel Obstruction: Case Report and Review of the Literature.

Fecaloma is a mass of hardened feces being impacted mostly in rectum and sigmoid. The most common sites of the fecaloma is the sigmoid colon and the rectum. There are several causes of fecaloma and have been described in association with Hirschsprung's disease, psychiatric patients, Chagas disease, both inflammatory and neoplastic, and in patients suffering with chronic constipation.

Characteristics of Pseudoaneurysms in Northern India; Risk Analysis, Clinical Profile, Surgical Management and Outcome.

Objective: To determine the risk factors, clinical characteristics, surgical management and outcome of pseudoaneurysm secondary to iatrogenic or traumatic vascular injury.

Methods: This was a cross-sectional study being performed in department of cardiovascular and thoracic surgery skims soura during a 4-year period. We included all the patients referring to our center with primary diagnosis of pseudoaneurysm.

No evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley of India.

Multiple sclerosis (MS) is an inflammatory neurodegenerative disease of the nervous system with a profound genetic element. It is already known that alterations in Eukaryotic Translation Initiation Factor 2B (EIF2B) gene encoding the five subunits of eIF2B complex cause Vanishing White Matter (VWM) disease of the brain and emerging evidences have advocated certain resemblances between MS and VWM in terms of clinical and epidemiological characteristics, thus validating the association study between EIF2B and MS. Moreover, a recent study has implicated EIF2B5 Ile587Val (rs843358) polymorphism as a susceptibility factor for MS.

Congenital midureteric stricture: challenges in diagnosis and management.

Background. Congenital midureteric stricture (MUS) is a rare malformation. We report our experience with five cases seen over a period of 4 years from 2010 to 2014.

Study of serum interleukin (IL) 18 and IL-6 levels in relation with the clinical disease severity in chronic idiopathic urticaria patients of Kashmir (North India).

Background: Chronic urticaria is termed as idiopathic if there is an absence of any identifiable causes of mast cell and basophil degranulation. Various cytokines have been found to be involved in inflammatory processes associated with chronic idiopathic urticaria, including interleukin (IL) 18 and IL-6.

Objective: To evaluate any possible correlation of IL-18 and IL-6 cytokines with the clinical disease severity in chronic idiopathic urticaria (CIU).

Hydrocephalus after decompressive craniotomy: a case series.

Background: Post-craniectomy hydrocephalus in patients with intracranial hypertension is becoming a major concern for neurosurgeons because of the increasing number of hospital admissions for head trauma, stroke and other lesions which may lead to severe brain oedema requiring decompressive craniectomy.

Methods: We collected records of all the paediatric patients who developed hydrocephalus following decompressive craniotomy from October 2011 to October 2013 and analysed their clinical profiles.

Results: We had 3 patients in this group, ranging in age from 6 to 18 years; 1 patient died and the other 2 patients continue to remain in follow-up.

Recurrent primary hydatid disease of the tibia.

Hydatid disease is caused by a cestode, Echinococcus. Its intermediate hosts are herbivores but humans can be accidental hosts. Hydatid disease is endemic in some parts of America, Australia, the Mediterranean region, Central Asia, and Central and Eastern Europe.