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Biomedical subjects

Devendra Desai

Publications and source records attributed to Devendra Desai.

15 recordsLinked to original sources
PubMed2005

Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene. The most severe, DeltaF508, mutation accounts for nearly 70% of CF cases worldwide. Besides DeltaF508, there are other point mutations, namely G542X, G551D, R553X, N1303K, and 621+1(G-->T), which are common among Caucasians. Additionally, a polyT polymorphism in intron 8 is also involved in the pathogenesis of CF. However, neither the prevalence nor the types of mutations causing CF in India are known. In this study, we aimed at estimating the frequency of the above common mutations and polymorphism in clinically suspected CF cases. We also carried out partial analysis of the CFTR gene, limited to exons 10 and 11, to identify other variations in these exons. METHODS: The multiplex amplification refractory mutation system (ARMS) test was applied for rapid simultaneous analysis of six most common CF mutations, in 100 normal and 39 elevated sweat chloride cases. The scanning of exons 10 and 11 was carried out by single-stranded conformation polymorphism/heteroduplex (SSCP/HD) analysis, followed by DNA sequencing in 50 normal and 37 elevated sweat chloride cases. A single ARMS-polymerase chain reaction assay was used to distinguish the 5T, 7T, and 9T alleles in 100 normal and 33 elevated sweat chloride cases. RESULTS: The multiplex ARMS analysis identified the DeltaF508 mutation at an allele frequency of 24% in Indian CF cases. However, the other predominant CF mutations were found to be absent. The 7T polyT variant was observed to be the most common allele, followed by the 9T, and 5T, which was the lowest. The DeltaF508 mutation was observed in all instances with the 9T variant. The SSCP/HD and DNA sequencing additionally revealed a known polymorphism (M470V, exon 10) and a known mutation [1525-1(G-->A), intron 9]. The 1525-1(G-->A) mutation, observed in a single 4-year-old male, is predicted to code for a class II defective CFTR protein. CONCLUSION: The findings of this study suggest a difference in relative frequencies and spectrum of CFTR mutations in Indian CF cases. A larger screening study of the entire CFTR gene in clinically well defined CF cases is required to delineate common mutations in the CFTR gene and enable molecular diagnosis of CF in India.

Amino Acid Substitution↗
PubMed2004

Co-existence of peri-ampullary carcinoma with peripancreatic tuberculous lymphadenopathy.

CONTEXT: Pancreatic tuberculosis and peripancreatic tuberculous lymphadenitis are rare, mimicking various pathologies of the pancreas. The coexistence of peri-ampullary malignancy with peripancreatic tuberculous lymphadenitis has not been reported. CASE REPORT: We present the case of a young woman who had been operated on with a preoperative diagnosis of peri-ampullary adenocarcinoma in whom a frozen section of regional lymph nodes revealed tuberculosis. The final pathology confirmed the co-existence of tuberculosis with malignancy. The patient made an uneventful recovery. CONCLUSION: In countries with high endemicity for tuberculosis, the co-existence of malignancy and tuberculosis should be considered and resection, which is the only chance for cure, should not be abandoned due to observations based solely on frozen sections.

Adult↗
PubMed2003

Carriage of methicillin-resistant Staphylococcus aureus is associated with an increased risk of infection after liver transplantation.

Methicillin-resistant Staphylococcus aureus (MRSA) is an important cause of sepsis in patients with cirrhosis and after liver transplantation. The association between nasal carriage of MRSA and sepsis in these patients is unclear. The goal of this study was to investigate the relationship between MRSA carriage before liver transplantation and subsequent sepsis after transplantation. This was a retrospective study of 374 consecutive adults who underwent orthotopic liver transplantation between 1998 and 2001 and for whom full data were available. Of these, 157 had been screened for MRSA as part of a study assessing the prevalence of MRSA infection. All MRSA carriers were treated with nasal mupirocin and chlorhexidine baths. The records of MRSA carriers and noncarriers were analyzed for Child and Model for End-Stage Liver Disease (MELD) score, posttransplantation MRSA, and other infections and mortality. Of the 157 patients who had an MRSA screen, 35 patients were MRSA nasal carriers. These carriers had significantly greater MELD score (mean, 16.2 compared with 13.1; P =.02) and Child scores (mean, 10 versus 9; P =.001) than noncarriers. The incidence of posttransplantation MRSA infection was significantly higher in MRSA carriers (31% versus 9%; P =.002). The incidence of other posttransplantation infection was not significantly different in the two groups. There was no significant difference in survival between the two groups (1-year patient survival, 74% and 82%, respectively). Patients carrying MRSA are predisposed to an increased risk of sepsis after liver transplantation with a trend to increased mortality. Screening for MRSA should be considered in high-risk patients being assessed for liver transplantation.

Adolescent↗
PubMed2002

AIDS-associated Kaposi's sarcoma in a heterosexual male--a case report.

A 39 year old married heterosexual male presented with extensive purpuric macules, papules, and lichenoid plaques scattered over his skin and mucocutaneous surfaces for one year. The lesions were larger in both his groins, and were associated with lymphedema of his penis and scrotum. His serology for the HIV-1 virus was positive. Biopsies from multiple lesions confirmed the diagnosis of Kaposi's sarcoma. Histochemistry was positive for the HHV-8 virus. He subsequently developed pulmonary and peritoneal effusions and died 3 months later of cardiopulmonary arrest.

AIDS-Related Opportunistic Infections↗
PubMedDate not supplied

Ascites due to pacemaker syndrome.

We describe a 65-year-old man who had had a permanent cardiac pacemaker implanted in 1994 and presented now with ascites. He was investigated for 3 months without finding any cause. He was admitted with a colonic bleed due to a polyp; on cardiac evaluation he was found to have pacemaker syndrome. After adjusting the pacemaker settings his ascites and pleural effusion (which had developed later) disappeared.

Aged↗
PubMedDate not supplied

Autoimmune hepatitis: a study of 50 patients.

INTRODUCTION: Autoimmune hepatitis (AIH) is a well-defined entity in the West but there are sparse Indian data on this disease. AIM: To study the clinical profile and response to treatment of Indian patients with AIH. METHODS: This is a part retrospective and part prospective study of 50 patients (median age 48 years, range 11-82; 43 women) seen between 1995 to 2001, diagnosed to have AIH as per the revised scoring system. Clinical and laboratory profile, response to treatment, and complications of treatment were analyzed. RESULTS: AIH accounted for 6% of all patients with liver disease seen during the period. The presenting symptoms were gastrointestinal in 43 and non-gastrointestinal in 7, with median symptom duration of 6 months (range 2 weeks to 40 years). Forty patients (80%) had chronic liver disease. Associated illnesses were present in 28 patients. Twenty-six patients were classified as definite and the rest as probable AIH. Forty-nine patients had Type 1 AIH. Five patients had overlap syndrome. Forty-five patients (90%) received immunosuppressive therapy. Twelve of 18 patients receiving only prednisolone and 21 of 27 patients receiving prednisolone and azathioprine combination responded. Thirteen (26%) patients had therapy-related complications (infectious 5, non infectious 8) with two treatment-related deaths. CONCLUSION: Type 1 AIH was the predominant type of AIH. The majority of patients with AIH presented with chronic liver disease. There was good response to immunosuppressive therapy. Therapy-related complications occurred in one-fourth of patients.

Adolescent↗
PubMedDate not supplied

Giant mesenteric cyst of abdomen herniating into scrotum.

Cystic mesenteric tumors are rare abdominal neoplasms. We report a 55-year-old man with recurrent benign mesothelioma arising from the left colonic mesentery and extending into the scrotal sac. He recovered well after excision of the abdominal and scrotal mass.

Diagnosis, Differential↗
PubMedDate not supplied

Portal hypertensive jejunopathy: a case control study.

BACKGROUND: Small bowel mucosa is a recognized potential source of bleeding in portal hypertension. However, the frequency of its involvement is not known. AIMS: To document the nature, severity and frequency of endoscopic and histologic changes in the jejunum in patients with portal hypertension. METHODS: Forty consecutive patients with portal hypertension and 43 patients with non-ulcer dyspepsia (controls) underwent push enteroscopy and jejunal, duodenal and gastric biopsies. Biopsies were randomized and examined by a blinded pathologist for inflammation and vascular dilatation, which was quantified by morphometry. RESULTS: Endoscopic jejunopathy was observed in 6 patients and none of the control subjects. All patients with jejunopathy had portal hypertensive gastropathy (PHG) and 5 had duodenopathy. Vascular dilatation was observed in 15 patients and 25 control subjects (p = ns). The degree of vascular dilatation was similar in both groups. Inflammatory changes were observed in 24 patients and 25 control subjects (p = 0.05). CONCLUSIONS: Endoscopic jejunopathy was present in 15% of patients with portal hypertension. These changes were mild in 83% of them. All patients with jejunopathy also had PHG. Histologic changes were similar in patients and control subjects.

Adolescent↗
PubMedDate not supplied

Thrombophilic conditions in non-cirrhotic portal vein thrombosis.

OBJECTIVE: To study the prevalence of thrombophilic conditions in patients with acute and chronic portal vein thrombosis (PVT) and to compare it with those in patients suffering from deep vein thrombosis (DVT) after lower limb arthroplasty and in healthy subjects. METHODS: Twenty-six patients with spontaneous PVT (20 chronic, 6 acute) with normal liver function and not receiving anticoagulants were evaluated for thrombophilic conditions. Levels of protein C, protein S and antithrombin were compared with those in 50 healthy controls. Factor V gene 'Leiden' mutation (FVL) and high homocysteine levels were looked for in patients with PVT and in 18 patients developing post-arthroplasty lower limb DVT despite anticoagulation. RESULTS: Of 26 patients with PVT, 19 had at least one thrombotic condition (acute PVT 5/6, chronic PVT 14/20) and 12 had more than one such condition; in comparison, of 18 patients with DVT, eight had one thrombophilic condition and one had two such conditions (p=0.03). Patients with PVT had significantly lower levels of protein C, protein S and antithrombin than healthy subjects and those with DVT. Six patients had Factor VIII levels above 150%; four had elevated homocysteine levels and three had detectable anti-cardiolipin antibodies. Three patients with PVT (acute 2, chronic 1) were heterozygous for FVL mutation. CONCLUSIONS: Underlying thrombophilic conditions are common in Indian patients with spontaneous PVT. In many patients, multiple thrombophilic conditions are present and these may play a role in the pathogenesis of PVT.

Adolescent↗
PubMedDate not supplied

Cytomegalovirus involving gastric antrum in immunocompromised hosts: a report of 5 cases.

Cytomegalovirus infection, which is common in immunosuppressed patients, only rarely affects the stomach, especially the gastric antrum. We report five patients with cytomegalovirus infection of the stomach with antral involvement. Of these, four had undergone renal transplant and one had HIV infection. All patients presented with upper gastrointestinal symptoms that did not respond to proton pump inhibitors and prokinetic drugs. In addition, all had systemic symptoms. Diagnosis was made at upper GI endoscopy and biopsy, and ganciclovir treatment led to improvement.

Adult↗
PubMedDate not supplied

Primary malignant melanoma of right colon.

We report a 62-year-old lady who presented with abdominal lump and neurological deficit. Investigations showed ascending colon mass, subcutaneous nodule and right parietal lobe lesion. Histology and immunohistochemistry were suggestive of malignant melanoma. The search for primary site was negative.

Colonic Neoplasms↗
PubMedDate not supplied

Celiac crisis with hypokalemic paralysis in a young lady.

Celiac crisis presents as severe acute diarrhea with life-threatening metabolic derangement in a patient with celiac disease. We report a 30-year-old lady who was admitted with one-month history of worsening small bowel-type diarrhea. She developed acute quadriparesis due to refractory hypokalemia. Celiac disease was diagnosed on the basis of positive serology and histological features. She improved with aggressive correction of hypokalemia and gluten-free diet. Celiac crisis is a rare presentation of this heterogeneous disease in adulthood.

Adult↗