Is a diagnostic lumbar puncture indicated in intraocular retinoblastoma?

Background: Lumbar puncture (LP) is frequently performed in patients with advanced intraocular retinoblastoma. However, this may not be necessary in a significant proportion of patients. Materials and Methods: A file review of patients who were diagnosed with retinoblastoma over a 13-year-period was performed. Patients who underwent LP as part of staging were included in the study. Results: The study included 223 patients. One-third had bilateral retinoblastoma. The grouping was C, D, and E in 4 (2.9%), 41 (29.9%), and 92 (67.2%) patients, respectively. The stage was 0, I, II, III, and IV in 14 (6.3), 123 (55.2%), 13 (5.8%), 70 (31.4%), and 3 (1.3%) patients, respectively. Eight (3.6%) patients had a positive cerebrospinal fluid (CSF) cytology. None of the patients with intraocular disease and 7 (10%) patients with extraocular disease had a positive CSF. Conclusions: A diagnostic CSF is not indicated in patients with intraocular retinoblastoma.

Chemoradiation therapy induces in vivo changes in gene promoter methylation & gene transcript expression in patients with invasive cervical cancer

Background & objectives: Invasive cervical cancer patients are primarily treated with chemoradiation therapy. The overall and disease-free survival in these patients is variable and depends on the tumoral response apart from the tumour stage. This study was undertaken to assess whether in vivo changes in gene promoter methylation and transcript expression in invasive cervical cancer were induced by chemoradiation. Hence, paired pre- and post-treatment biopsy samples were evaluated for in vivo changes in promoter methylation and transcript expression of 10 genes (ESR1, BRCA1, RASSF1A, MYOD1, MLH1, hTERT, MGMT, DAPK1, BAX and BCL2L1) in response to chemoradiation therapy. Methods: In patients with locally advanced invasive cervical cancer, paired pre- and post-treatment biopsies after 10 Gy chemoradiation were obtained. DNA/RNA was extracted and gene promoter methylation status was evaluated by custom-synthesized methylation PCR arrays, and the corresponding gene transcript expression was determined by absolute quantification method using quantitative reverse transcription PCR. Results: Changes in the gene promoter methylation as well as gene expression following chemoradiation therapy were observed. BAX promoter methylation showed a significant increase (P<0.01) following treatment. There was a significant increase in the gene transcript expression of BRCA1 (P<0.01), DAPK1 and ESR1 (P<0.05), whereas MYOD1 and MLH1 gene transcript expression was significantly decreased (P<0.05) following treatment. Interpretation & conclusions: The findings of our study show that chemoradiation therapy can induce epigenetic alterations as well as affect gene expression in tissues of invasive cervical cancer which may have implications in determining radiation response.

Symptomatic Pulmonary Siderosis A case report

Pulmonary siderosis or Welder’s lung is a rare occupational lung disease which occurs due to long term inhalation of iron compounds. It is most commonly seen in arc-welders. Most of the patients are asymptomatic with mild or no functional impairment. We report a case of pulmonary siderosis with symptomatic respiratory disease and restrictive pattern in pulmonary function test.

Systemic sclerosis and tuberculosis A case report

Scleroderma is a chronic systemic autoimmune disease of unknown origin characterized by excessive collagen deposition and autoantibodies. Patients with autoimmune diseases are known to develop infections like tuberculosis due to the disease per se and also secondary to immunosuppressive treatment. Mycobacterial infections are also known to induce the development of autoantibodies. We present a case of simultaneous occurrence of interstitial lung disease and pulmonary tuberculosis (BAL positive for AFB) in a patient with features of systemic sclerosis. Antibody profile was done were found to be positive for ANA. She also had most of the classical features of scleroderma on clinical examination thus confirming the diagnosis. A detailed history, clinical examination, radiological examination, bronchoscopy and immunological test helped in the diagnosis of the patient. We highlight the importance of suspicion, careful general examination, radiological assessment and screening tuberculosis patients for autoantibody profile in presence of a multisystem involvement.

To assess the pulmonary impairment in treated pulmonary tuberculosis patients using spirometry

Background: Tuberculosis is one of the leading causes of death due to infectious Disease worldwide, with an estimated 8.9 million new cases and 1.6 million Deaths worldwide. Aim: To study the type and degree of pulmonary impairment in treated pulmonary Tuberculosis patients using spirometry. To co -relate present symptoms and radiological findings and to assess the degree of impairment. For identification of impairment (obstructive, restrictive or mixed) that contribute to long term disability and decreased quality of life. Materials and methods: Retrospective observational study was done in Meenakshi Medical College Hospital. A total of 75 treated pulmonary tuberculosis patients were taken for study with clinical data, chest x-ray pattern, smoking and biomass fuel exposure history were recorded. Their pulmonary function was assessed using spirometry. Results: All patients were symptomatic and most common symptom was breathlessness. Chest radiograph showing 1 or 2 zones involved patients were 40 (53.3%) and more than 3 zones involved were 35 (46.7%).Most of the patients 51 (68%) showed a Restrictive pattern in spirometry, 10 (13.3%) showed an obstructive pattern and 14 (18.7%) showed a mixed pattern. Smoking and Biomass fuel exposure did not show a significant co-relation with spirometry pattern but initial sputum positive patients and defaulter patients showed a significant co-relation with spirometry pattern. Conclusion: The most common pulmonary impairment pattern in treated pulmonary tuberculosis patients was Restrictive pattern. Hence pulmonary tuberculosis need follow up even after treatment for early detection and treatment for their pulmonary disability

Granulomatosis with Polyangiitis – A case report

Granulomatosis with Polyangiitis (GPA) is a rare multisystem autoimmune disease. It is characterized histopathologically by necrotizing granulomatous vasculitis. The classical clinical triad consists of upper airway involvement (characterized by sinusitis, otitis, nasal mucosa ulcers, bone deformities, and subglottic stenosis), lower respiratory tract involvement (cough, chest pain, hemoptysis) and glomerulonephritis. We reported here a case of Wegener’s granulomatosis presenting as a thick walled cavity.

Do traumatic lumbar punctures lead to greater relapses in acute lymphoblastic leukemia: Experience at a university hospital in India.

OBJECTIVE: The aim of the study was to evaluate the impact of traumatic lumbar puncture (TLP) at diagnosis of relapse in childhood acute lymphoblastic leukemia (ALL). Risk factors associated with TLP were assessed. MATERIALS AND METHODS: A retrospective analysis was performed from the records of children with ALL who were treated from January 2010 to December 2012. RESULTS: A total of 311 patients with median age of 5 years (range: 1–13) were treated for ALL. The cerebrospinal fluid analysis obtained from first LP revealed 275: Central nervous system 1 (CNS 1) (no blasts); 8: CNS 3 (blasts positive); and 28: TLP. Twenty‑eight (9%) patients relapsed. Twelve (3.9%) had a CNS relapse. A TLP at diagnosis was not associated with an increased risk of systemic or CNS relapse (P = 0.298, 0.295). Three years event‑free survival of patients with TLP and without atraumatic LP (ATLP) at diagnosis was 56 ± 5.2% and 51.8 ± 12.4%, (P = 0.520). Three years overall survival with TLP and ATLP was 73.3 ± 3.5% and 70.4 ± 12.5%, respectively, (P = 0.963). Median platelet count in patients with TLP was significantly lower than those without TLP (10,000/μL and 28,000/μL, P < 0.001). A receiver operating characteristic curve was constructed for predicting the risk of TLP based on platelet count. Area under the curve was 0.74 ± 0.05 (95% confidence interval 0.64–0.84). Platelet count < 23.5 × 109/L at the time of LP had 75% sensitivity and 64.4% specificity in predicting a TLP. CONCLUSIONS: Low platelet counts are significantly associated with risk of TLP. Traumatic LP at diagnosis was not associated with an increased risk of relapse.

Impact of House-hold Food Insecurity on Nutritional Status of HIV-infected Children Attending an ART Centre in Tamil Nadu.

We studied the level of food insecurity among households with HIV-infected children and its relationship with childhood nutritional indicators. Among the 147 children assessed, food insecurity was present in 59% of households. Majority of children with stunting belonged to-food insecure families. Stunting and Underweight were more prevalent among children >5 years of age.

Plasmid-mediated quinolone resistance in typhoidal Salmonellae: A preliminary report from South India.

Background: Fluoroquinolones are the drugs extensively employed for the treatment of Salmonella infections. Over the couple of decades that have elapsed since the introduction of fl uoroquinolones, resistance to these agents by Enterobacteriaceae family members has become common and widespread. Although fl uoroquinolone resistance is mediated by genomic DNA (deoxyribonucleic acid) as well as plasmid DNA, the plasmid-mediated quinolone resistance (PMQR) facilitates higher level resistance by interacting with genomic mechanism and is capable of horizontal spread. Materials and Methods: During a period of 1-year, 63 typhoidal Salmonellae were isolated from 14,050 blood cultures and one parietal wall abscess. 36 (56.25%) were Salmonella Typhi and 27 (42%) were Salmonella Paratyphi A. They were all screened for resistance by the disc diffusion method and their minimum inhibitory concentrations were determined using agar dilution, broth dilution and E-strip method. Ciprofl oxacin resistant isolates were screened for PMQR determinants by polymerase chain reaction assay. Results: All the 63 isolates were resistant to nalidixic acid. Among the 36 S. Typhi isolates 20 were resistant to ciprofl oxacin, of which 14 carried the plasmid gene qnrB and one carried the aac(6’)-Ib-cr gene. qnrA and qnrS genes were not detected. Ciprofl oxacin resistance was not seen in any of the S. Paratyphi A isolates. Conclusion: The antibiotic sensitivity pattern of typhoidal Salmonellae shows an increasing trend of PMQR. The allele B of qnr gene was found to be the predominant cause of PMQR in this study.

Effect of rifampicin & isoniazid on the steady state pharmacokinetics of moxifloxacin.

Background & objectives: Moxifloxacin (MFX) is reported to have promising antimycobacterial activity, and has a potential to shorten tuberculosis (TB) treatment. We undertook this study to examine the influence of rifampicin (RMP) and isoniazid (INH) on the steady state pharmacokinetics of MFX individually in healthy individuals. Methods: A baseline pharmacokinetic study of MFX (400 mg once daily) was conducted in 36 healthy adults and repeated after one week of daily MFX with either RMP (450/600 mg) (n = 18) or INH (300 mg) (n = 18). Plasma MFX concentrations were determined by a validated HPLC method. Results: Plasma peak concentration and exposure of MFX was significantly lower and plasma clearance significantly higher when combined with RMP (P<0.001). The Cmax to MIC and AUC0-12 to MIC ratios of MFX were significantly lower during concomitant RMP (P<0.001). INH had no significant effect on the pharmacokinetics of MFX. Interpretation & conclusions: Concomitant RMP administration caused a significant decrease in Cmax and AUC0-12 of MFX, the mean decreases being 26 and 29 per cent, respectively. It is uncertain whether this decrease would affect the treatment efficacy of MFX. Prospective studies in TB patients are needed to correlate MFX pharmacokinetics with treatment outcomes.

The Smad family and its role in pancreatic cancer.

One of the major signaling pathways that determine the tumor aggression and patient outcome in pancreatic cancer is the transforming growth factor-beta (TGF-ß) pathway. It is inactivated at various levels in pancreatic cancer and plays a dual role in tumor initiation and progression. The Smad family of proteins transduce signals from the TGF-ß superfamily ligands that regulate cell proliferation, differentiation and death through activation of receptor serine/threonine kinases. This review discusses the structure, function and regulation of various participating Smad family members, and their individual roles in determining the progression and outcome of pancreatic cancer patients, with a special emphasis on Smad4.

Epidemiology and symptom profile of gastroesophageal reflux in the Indian population: Report of the Indian Society of Gastroenterology Task Force.

Background Gastroesophageal reflux disease (GERD) and its complications are thought to be infrequent in India; there are no data from India on the prevalence of and risk factors for GERD. The Indian Society of Gastroenterology formed a task force aiming to study: (a) the frequency and profile of GERD in India, (b) factors including diet associated with GERD. Methods In this prospective, multi-center (12 centers) study, data were obtained using a questionnaire from 3224 subjects regarding the frequency, severity and duration of heartburn, regurgitation and other symptoms of GERD. Data were also obtained regarding their dietary habits, addictions, and lifestyle, and whether any of these were related or had been altered because of symptoms. Data were analyzed using univariate and multivariate methods. Results Two hundred and forty-five (7.6%) of 3224 subjects had heartburn and/or regurgitation at least once a week. On univariate analysis, older age (OR 1.012; 95% CI 1.003–1.021), consumption of non-vegetarian and fried foods, aerated drinks, tea/coffee were associated with GERD. Frequency of smoking was similar among subjects with or without GERD. Body mass index (BMI) was similar in subjects with and without GERD. On multivariate analysis, consumption of non-vegetarian food was independently associated with GERD symptoms. Overlap with symptoms of irritable bowel syndrome was not uncommon; 21% reported difficulty in passage of stool and 9% had mucus in stools. About 25% of patients had consulted a doctor previously for their gastrointestinal symptoms. Conclusion 7.6% of Indian subjects have significant GERD symptoms. Consumption of non-vegetarian foods was an independent predictor of GERD. BMI was comparable among subjects with or without GERD.

A comprehensive examination of Smad4, Smad6 and Smad7 mRNA expression in pancreatic ductal adenocarcinoma.

Background: Smad4, Smad6 and Smad7 are important molecules in TGF-beta pathway, which plays an important role in pancreatic ductal adenocarcinoma (PDAC) biology. Aims : This study examined the expression profiles of Smad4, Smad6 and Smad7 mRNA in patient samples of PDAC and their relationship to Smad protein expression, SMAD4 gene mutations, clinicopathological parameters and patient survival. Settings and Design: Surgically resected, paired normal and tumor tissues of 25 patients of PDAC were studied. Materials and Methods: Protein and mRNA levels were assessed by immunohistochemistry and RT-PCR, respectively. Statistical Methods: Statistical analysis was done using Student's t-test, Pearson's chi-square test, Spearman's Rank Correlation, Pearson's Correlation test and Kaplan-Meier Logrank test. Results: While there was a highly significant difference in the protein levels of all three Smads in tumor as compared to normal samples, mRNA levels were significantly different only for Smad4. Protein levels did not correlate significantly with mRNA levels for any of the three Smads. The mRNA levels of Smad4 and Smad6, Smad4 and Smad7, and Smad6 and Smad7 in tumor samples showed a significant positive correlation. The relationship of Smad4 mRNA expression to SMAD4 gene status and Smad4 protein expression was discordant and there was no significant correlation between mRNA expression and clinicopathological parameters and patient survival. Conclusion : The absence of concordance between SMAD4 gene status, mRNA expression and Smad4 protein expression suggests the presence of other regulatory mechanisms in Smad4 transcription and translation in PDAC.

Abundance & distribution of muscoid fl ies in tsunami - hit coastal villages of southern India during post-disaster management period.

Background & objectives: In the tsunami (December 2004) affected coastal villages located on southern parts of Coramandel Coast of India, seawater intrusion has created serious problems for the people. In order to assess the risk of outbreak of fl y-borne diseases, a longitudinal study for one year was carried out to investigate muscoid fl y abundance and their distribution in relation to various phases of relief measures in disaster-hit villages. Method: Muscoid fl y density was monitored in devastated human settlements, temporary shelters, garbage dumping yards and open defaecation yards in seawater intrusion and indoors and outdoors of seawater non intrusion areas using scudder grill and sweep net at monthly intervals from February 2005 to January 2006. Results: Muscoid fl y density recorded in the seawater incursion area was signifi cantly higher, compared to that observed in the seawater non incursion area with scudder grill sampling (F= 57.896, df = 1, P<0.01) or sweep net sampling (F= 63.6, df = 1, P<0.01). Fly density in seawater non incursion area was higher during hotter months (June-July 2005) and lower during cooler months. On the contrary, the fl y density in the seawater incursion areas was higher during the cooler months than in hotter months, indicating that the normal trend was upset by the tsunami. Interpretation & conclusion: Seawater incursion, crowding of tsunami victims at relief camps, accumulation of solid waste at centralized relief kitchen and temporary shelters were responsible for the sudden increase in the number of fl ies. However, the post-disaster relief efforts kept the situation under control, without outbreak of any vector-borne diseases.

Myiasis in different types of carcinoma cases in southern India.

Myiasis maggots were isolated from the cancerous wounds, when the patients reported to the Department of ENT-OPD, JIPMER, Pondicherry. Maggots were identified to Chrysomyia bezziana based on characteristic patterns of posterior and anterior spiracles. Although the categories of cancer wounds were different, invasions were due to C. bezziana, which is very common in suburban areas of Tamil Nadu and Pondicherry in southern parts of India. This observation showed the importance of hygiene and sanitation in tropical countries with high fly population and emphasised the need for correct diagnosis of this obligatory myiasis, which was destructive. Through proper health care, further destabilization due to myiasis was avoided.

Intestinal myiasis caused by Muscina stabulans.

Intestinal maggots were isolated from a patient, who had reported to the Department of General Medicine of Sri Manakula Vinayagar Medical College, Puducherry, in southern India with complaints of abdominal distress, bloating of abdomen and intestinal hurry following a meal. He was diagnosed as a case of intestinal myiasis. Maggots obtained from his stool were identified to be Muscina stabulans based on characteristic patterns of posterior spiracles. He was treated with purgatives and albendazole. This intestinal myiasis case caused by M. stabulans is reported here because of its rare occurrence and the need to establish a correct diagnosis.

Huge placental myxoid chorangioma presenting with severe antepartum hemorrhage.

A 2nd gravida presented at 27 weeks with antepartum hemorrhage. Ultrasound showed a single live fetus (parameters approximately 23 weeks) and a huge placenta with multiple cystic areas extending into the lower uterine segment; some of which showed increased vascularity on colored doppler. A diagnosis of low lying placenta with a possibility of chorangioma or a partial mole was made. The next bout of antepartum hemorrhage was severe necessitating an emergency cesarean. Histopathology of the placenta (weighing 2240 grams) revealed a myxoid chorangioma. All features in this woman are uncommonly reported in literature (large size, myxoid degeneration and severe antepartum hemorrhage necessitating a cesarean).

Aggressive angiomyxoma presenting as a vulval polyp.

Aggressive angiomyxoma is a rare, locally invasive mesenchymal tumor, occurring predominantly in the pelvic-perineal region of adults and carries a high risk for local relapse and hence the need to differentiate it from the other mesenchymal tumors occurring in this region. Presentation as a pedunculated polyp, like in our case, is unusual for this rare tumor. Except for positive surgical margins, there are no clinical or histological means for predicting the tumor recurrence. A diligent long-term follow-up is mandatory. Though rare, this tumor needs to be considered in the differential diagnosis of vulval polyps.