Comparison of Mycobacterium tuberculosis culture using liquid culture medium and Lowenstein Jensen medium in abdominal tuberculosis.

Background Traditionally, the Lowenstein Jensen (LJ) medium has been used for culturing Mycobacterium tuberculosis. In abdominal tuberculosis (TB), the reported yield from tissue culture is between 20% and 60%. Liquid cultures are reported to give a higher yield but there is little data available in abdominal TB. Aim To compare the yield of TB culture with BACTEC 460TB liquid medium and LJ medium for patients with suspected abdominal TB and determine cost effectiveness. Methods This prospective study was done in consecutive cases with clinical, radiological, endoscopic/surgical, and histological suspicion of abdominal TB. Tissue biopsies obtained at colonoscopy or surgery were processed and plated on LJ medium as well as the BACTEC 460TB system. NAP (ρ-nitro-α-acetylamino-β-hydroxy-propiophenone) differentiation was carried out to determine species. The cost of each method and cost per yield were calculated. Results Of the 29 cases, 22 cases (76%) were positive on BACTEC 460TB culture while 14 (48%) were positive on LJ medium giving a 64% increment in yield. However, the culture of one patient grew on LJ medium, where the BACTEC 460TB was negative. The additional cost of BACTEC 460TB is Rs. 460 and LJ is Rs. 40. Conclusions Samples from patients with abdominal TB should be processed on both liquid and LJ medium. For high yield, the use of a liquid culture medium system is essential.

An Indian family of multiple endocrine neoplasia type 1 (MEN1): molecular diagnosis, treatment and follow up.

BACKGROUND/OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal, dominant syndrome, characterized mainly by the combination of tumors involving the parathyroid, pancreatic and pituitary glands. Genetic sequencing leading to early treatment of family members has not yet been reported in Indian patients. METHODS: We performed molecular analysis of the MEN1 gene to identify mutations in an Indian family with MEN1 syndrome. The proband was identified with multiple peptic ulcers because of multifocal recurrent gastrinomas, as well as parathyroid and pituitary adenomas. All the 10 exons of the MEN1 gene were amplified using the polymerase chain reaction (PCR). The MEN1 gene was then screened by direct DNA sequencing. RESULTS: The proband is asymptomatic 3 years after total pancreatectomy and removal of parathyroid adenomas. DNA sequencing revealed the presence of a heterozygous Y227X mutation in exon 4 of the MEN1 gene in the proband. Four of the seven mutant-carrying family members are at present asymptomatic. Following screening, one asymptomatic child has been identified with and treated for insulinoma and parathyroid adenoma. CONCLUSION: Detection of the MEN1 gene mutation enables selection of family members for screening and long-term follow up.

HFE, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis.

BACKGROUND: Primary haemochromatosis is characterized by iron overload in the body tissues. It is common in populations of northern European descent. In such populations, 85%-90% of patients with this disease have a C282Y mutation in the HFE gene. In India, the disease is uncommon and the genetic defects associated with it are unknown. We therefore looked for mutations in the HFE and other genes involved in iron metabolism in Indian patients with primary haemochromatosis. METHODS: Five patients (including a brother-sister pair) with primary haemochromatosis diagnosed on clinical, biochemical and histological findings were studied. Genomic DNA was analysed by sequencing for the presence of mutations in all the 6 exons of the HFE gene and for previously described mutations in genes encoding hepcidin antimicrobial peptide and ferroportin. RESULTS: No patient had the C282Y mutation. One had homozygous H63D mutation. No other mutation was found in any HFE exon. Two previously reported splice site mutations in the HFE gene (IVS3 + 1 G/T and IVS5+1 G/A) were not detected. Four of the 5 patients had an HFE splice site mutation (IVS2 + 4 T/C; homozygous 2, heterozygous 2); however, this change was as frequent in 29 healthy subjects (homozygous 9, heterozygous 7), and was present in only 1 of the sibling pair patients, indicating that this represented a polymorphism. No patient had any of the previously described mutations in the genes for hepcidin and ferroportin. CONCLUSION: Our patients with primary haemochromatosis lacked mutations in the HFE, hepcidin and ferroportin genes. Further genetic analysis may help identify novel mutations responsible for primary haemochromatosis in these patients.

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.

Presentation and natural history of variceal bleeding in patients with portal hypertension due to extrahepatic portal venous obstruction.

BACKGROUND: The natural history of portal hypertension due to extrahepatic portal venous obstruction (EHPVO) in the presence of a non-cirrhotic liver is not well understood. AIM: To evaluate the presenting features and the natural history of EHPVO by assessing the bleed patterns prior to definitive management in these patients. METHODS: Two hundred and seven consecutive patients presenting with history of variceal bleeding due to EHPVO were studied prospectively. Clinical, hematological and biochemical features on presentation, and pattern and severity of bleeding prior to institution of endoscopic therapy or surgery were recorded. RESULTS: Ascites was observed in 16% and was invariably transient. Splenomegaly was present in 82%, with hypersplenism in 22%; however, hypersplenism was symptomatic in only 6% of patients. In 127 patients having more than one episode of bleeding, the frequency of bleeding episodes was 0.94/year and transfusion requirment was 1.47 units/year. No fixed pattern of frequency of variceal bleeding was identified. However, number of bleed episodes and transfusion units requirement correlated with each other. The maximum severity of bleeding was between the ages of 12 and 19 years. CONCLUSION: Hypersplenism causing symptoms is rare in EHPVO presenting with variceal bleed.

Obstructing enterolith as presenting feature in Crohn's disease.

We report a 54-year-old woman with Crohn's disease presenting with intestinal obstruction due to an enterolith impacted at the site of a small bowel stricture. The diseased bowel was successfully resected by laparoscopy-assisted surgery.

Cystic variant of embryonal sarcoma of liver.

Embryonal sarcoma of the liver is an unusual tumor. The cystic form is rare and can mimic hydatid disease. We present a case that was mistakenly treated as a hydatid cyst for 3 months. Surgery was successful in removing the mass.