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ABSTRACT: OBJECTIVE: To study the varied presentations of Langerhans Cell Histiocytosis (LCH), the differential diagnosis of the varied presentations and the time lag in achieving the diagnosis. Prospective analysis of children diagnosed to have LCH over a period of 51 mo was done. A complete history and physical examination was undertaken in all patients, followed by relevant laboratory and radiological evaluation. Biopsy of the appropriate specimen was done. The extent of the disease was documented, accordingly treated and followed up. RESULTS: There were 16 children with LCH from October 2005 through December 2009. The age ranged from 8 mo to 72 mo. Diagnosis was confirmed by CD1a/S 100 in 15 children (93.75%). The mean time to arrive at the diagnosis was 9.9 mo. Multisystem disease was documented in 11 (68.75%) children and there were 4 (25.0%) cases of pulmonary LCH. The mean time of follow-up was 14.4 mo (range, 1 mo to 50.6 mo). Most common referral diagnoses in LCH patients was recurrent pneumonia and immunodeficiency. CONCLUSIONS: There is a need for high index of suspicion for diagnosis of LCH; misdiagnosis is frequent. Pulmonary involvement in children with LCH appears common. It is possibly still underdiagnosed. Nail changes are uncommon, but may act as a marker for multisystem disease. In addition to survival data and analysis of prognostic factors, the prospective collection of data on diverse presentations is essential, along with a high index of suspicion for the diagnosis of LCH.
The Indian Journal of Pediatrics 03/2012; · 0.52 Impact Factor
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ABSTRACT: INTRODUCTION: Common etiological agents for community-acquired lower respiratory tract infection (LRTI) include Streptococcus pneumoniae, Hemophilus influenzae and Mycoplasma pneumoniae and can be easily managed with oral or intravenous antibiotics. However, LRTI in patients with underlying illnesses, such as cystic fibrosis (CF) and immune deficiency, or on ventilator support is difficult to manage because these are caused by Gram-negative bacilli. Tobramycin has been shown to be effective in the management of these patients. AREAS COVERED: Information about the antimicrobial activity, pharmacological aspects (including pharmacokinetics and pharmacodynamics), clinical efficacy, safety and side effects of tobramycin have been covered in this review. EXPERT OPINION: A major advance for the use of tobramycin has occurred with its use by the inhalational route, in children with CF. The inhalation route provides the advantage of ease of administration for prolonged periods at home and allows use of very high doses. Systematic reviews suggest that tobramycin inhalation improves outcome, decreases the need for hospitalization and decreases the need for use of frequent systemic antibiotics in CF patients colonized with pseudomonas. Data on the efficacy of inhaled tobramycin in non-CF bronchiectasis are scarce, as are data on the prevention and treatment of ventilator-associated pneumonia, and on the role of combining inhaled tobramycin with systemic tobramycin. Despite limitations, this drug has the potential to be used in various conditions other than CF.
Expert Opinion on Pharmacotherapy 03/2012; 13(4):565-71. · 3.20 Impact Factor
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ABSTRACT: Circumflex aortic arch aneurysm is a rare condition. We report a 9-year-old female with this anomaly who underwent resection of the aneurysmal segment and reconstruction of aortic arch anterior to trachea under cardiopulmonary bypass and deep hypothermic circulatory arrest. The patient was completely relieved of dysphagia and recovered without any cardiac or neurological sequelae.
Journal of Cardiac Surgery 08/2011; 26(5):515-8. · 0.87 Impact Factor
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ABSTRACT: Pneumocystis pneumonia (PCP), a common and serious opportunistic infection in immunocompromised patients, is caused by Pneumocystis jirovecii (formerly known as Pneumocystis carinii f. sp. hominis). The aim of the present study was to describe the prevalence and distribution of genotypes of P. jirovecii based on sequence polymorphisms at mitochondrial large subunit ribosomal RNA (mt LSU rRNA) region in both HIV and non-HIV immunocompromised individuals with a positive PCR result for PCP in a tertiary health care centre in northern India. From January 2005 to October 2008, 50 patients [22 HIV-seropositive individuals, 10 post-renal transplant (PRT) recipients, 3 cancer patients, and 15 patients with various other kinds of immunosuppression] were found to be positive for P. jirovecii using PCR at the mt LSU rRNA gene. Genotyping of the positive samples was performed at the mt LSU rRNA locus. Genotype 2 was the most common accounting for 42% of total types. This was followed by the genotypes 3 (24%), 1 (20%), and 4 (8%). Mixed infection was observed in 3 cases (6%). The rates of genotype distribution were similar in HIV-seropositive individuals, cancer patients, and in patients with other kinds of immunosuppression. In the PRT recipients, genotype 1 was the most prevalent type (80%). This is the first study describing the prevalence of genotypes in HIV-infected and HIV-uninfected, immunocompromised patients based on the mt LSU rRNA gene from the Indian subcontinent. The most prevalent genotype observed was type 2 in contrast to many studies from other parts of the world where genotype 1 was the most prevalent type, suggesting geographical variation.
International journal of medical microbiology: IJMM 03/2011; 301(3):267-72. · 2.80 Impact Factor
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The Indian Journal of Pediatrics 01/2011; 78(3):319-20. · 0.52 Impact Factor
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ABSTRACT: Acute lung injury (ALI) and acute respiratory distress syndrome (ARDS) are disorders of pulmonary inflammation characterized by hypoxemia and respiratory failure. Children have varying incidence of ALI/ARDS from 2.2 to 16 per 100,000 pediatric population associated with high morbidity, mortality, and financial burden. The diagnostic criteria include: acute onset, severe arterial hypoxemia resistant to oxygen therapy alone (PaO₂/FIO₂ ratio ≤ 200 for ARDS and ≤ 300 for ALI), diffuse pulmonary inflammation (bilateral infiltrates on chest radiograph) and No evidence of left atrial hypertension. Management includes ventilatory therapy including lower tidal volume, relatively high PEEP and supportive care. Guidelines for diagnosis, ventilator management, rescue therapies and supportive care are being discussed in the protocol.
The Indian Journal of Pediatrics 11/2010; 77(11):1296-302. · 0.52 Impact Factor
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The Indian Journal of Pediatrics 10/2010; 77(11):1277-8. · 0.52 Impact Factor
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ABSTRACT: A 5-year-old boy presented with fever, cough, breathlessness and facial swelling. He was pale with distended veins over neck and chest, cervical and axillary lymphadenopathy and bilateral expiratory wheeze. Chest radiographs showed superior mediastinal widening. A computed tomography scan of the chest revealed mediastinal lymph nodes compressing superior vena cava and trachea. Bronchoscopy revealed nodular lesions in trachea and bronchi and compression of trachea. Broncho-alveolar lavage revealed acid fast bacilli. Diagnosis of superior mediastinal syndrome (SMS) secondary to tuberculosis was made and child was treated with antitubercular treatment along with oral prednisolone with good response.
The Indian Journal of Pediatrics 09/2010; 77(9):1021-3. · 0.52 Impact Factor
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ABSTRACT: Pneumocystis jirovecii is the cause of Pneumocystis pneumonia (PCP) in immuno-compromised individuals. The aim of this study was to describe the genotypes/haplotypes of P. jirovecii in immuno-compromised individuals with positive polymerase chain reaction (PCR) result for PCP. The typing was based on sequence polymorphism at internal transcribed spacer (ITS) regions of rRNA operon. Phylogenetic relationship between Indian and global haplotypes was also studied. Between January 2005 to October 2008, 43 patients were found to be positive for Pneumocystis using PCR targeting mitochondrial large subunit rRNA (mt LSU rRNA) and ITS region. Genotyping of all the positive samples was performed at the ITS locus by direct sequencing. Nine ITS1 alleles (all previously known) and 11 ITS2 alleles (nine previously defined and two new) were observed. A total of 19 ITS haplotypes, including five novel haplotypes (DEL1r, Edel2, Hr, Adel3 and SYD1a), were observed. The most prevalent type was SYD1g (16.3%), followed by types Ea (11.6%), Ec (9.3%), Eg (6.9%), DEL1r (6.9%), Ne (6.9%) and Ai (6.9%). To detect mixed infection, 30% of the positive isolates were cloned and 4-5 clones were sequenced from each specimen. Cloning and sequencing identified two more haplotypes in addition to the 19 types. Mixed infection was identified in 3 of the 13 cloned samples (23.1%). Upon construction of a haplotype network of 21 haplotypes, type Eg was identified as the most probable ancestral type. The present study is the first study that describes the haplotypes of P. jirovecii based on the ITS gene from India. The study suggests a high diversity of P. jirovecii haplotypes in the population.
Infection, genetics and evolution: journal of molecular epidemiology and evolutionary genetics in infectious diseases 08/2010; 10(6):712-9. · 3.22 Impact Factor
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ABSTRACT: We report a child with acute lymphoblastic leukemia who developed primary cutaneous mucormycosis at the site of lumbar puncture during induction chemotherapy. Though high mortality rates are reported with invasive mucormycosis, prompt biopsy, early identification and antifungal therapy using a combination regime of amphotericin-B and rifampicin along with extensive surgical debridement led to complete cure of the lesions in the index case.
The Indian Journal of Pediatrics 11/2009; 76(11):1161-3. · 0.52 Impact Factor
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ABSTRACT: A total of 327 clinical specimens, including both invasive and noninvasive samples, obtained from 275 patients with various types of underlying immunocompromised conditions and a clinical suspicion of Pneumocystis pneumonia (PCP) were subjected to 2 different nested polymerase chain reaction (PCR) assays. The target genes used for nested PCR were mitochondrial large subunit ribosomal RNA (mtLSU rRNA) and internal transcribed spacer (ITS) region. The results were compared with a single-round PCR targeting major surface glycoprotein (MSG) gene. Amplification was successful in 16% of cases by mtLSU rRNA nested PCR, in 14.5% by ITS nested PCR, and in 10.9% by MSG PCR. The nested mtLSU rRNA PCR was found to be more sensitive (100% sensitive and 98.7% specific) and useful in detecting PCP for its use in routine diagnosis in our settings. Thus, this assay may be quite useful in the identification of patients who are in the early stage of Pneumocystis jirovecii infection with an organism load that could not be easily detected by the single-step PCR.
Diagnostic microbiology and infectious disease 09/2009; 64(4):381-8. · 2.45 Impact Factor
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ABSTRACT: The role of Mycoplasma pneumoniae infection as a trigger for asthma exacerbations is well supported in previous studies. This study was designed to investigate the role of M. pneumoniae infection in acute exacerbation of asthma in children. A total of 150 patients (110 males, 40 females) were studied and immunoglobulin M (IgM) antibodies to M. pneumoniae were detected by enzyme-linked immunosorbent assay (ELISA), and PCR amplification was performed for the P1 gene to associate M. pneumoniae infection with asthma. As compared with 33 children with asthma, only two of the control subjects had positive IgM titers for M. pneumoniae, which was statistically significant (P=0.002). A total of 15 children with asthma were positive by PCR for the P1 gene while none of the controls had a positive PCR. Of these positive cases, 24 cases were positive only by ELISA, six were positive only by PCR and nine patients were found to be positive by both ELISA and PCR. All the clinical characteristics of the patients at baseline were comparable between the moderate and the severe group of patients statistically, except for the peak expiratory flow rate. Mycoplasma pneumoniae infection was found to have a significant association with acute exacerbation in the moderate group of asthma patients by PCR (P=0.01). These data suggest that M. pneumoniae infection may contribute to asthma exacerbation.
FEMS Immunology & Medical Microbiology 03/2009; 56(1):25-31. · 2.44 Impact Factor
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ABSTRACT: A 15-year-old boy with systemic lupus erythematosus, who on a follow up visit complained of recurrent episodes of fever, easy fatiguability, and seizures. Investigations revealed lymphocytosis (95%), anemia, and a positive PCR for cytomegalovirus (CMV). Electron microscopy of the lymphocytes revealed intranuclear inclusion bodies supporting the diagnosis of CMV infection. The child was treated with ganciclovir and discharged. At discharge the child was afebrile. However, lymphocytosis persisted even after 9 months of discharge. Repeated screening for possible lymphoreticular malignancy was negative. It is likely that lymphocytosis in this child was due to persistence of CMV infection in host cells leading to continued provocation of the host immune system.
The Indian Journal of Pediatrics 08/2008; 75(7):748-50. · 0.52 Impact Factor
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ABSTRACT: Mycoplasma pneumoniae, a self-replicating cell wall-deficient prokaryote, has a differentiated terminal organelle that is essential for cytadherence and gliding motility. P30, an important protein associated with the terminal organelle, is required for the cytadherence and virulence of M. pneumoniae. P30 is a transmembrane protein with an intracytoplasmic N terminus and an exposed C terminus. In the present study, we amplified and sequenced the full-length p30 gene of Mycoplasma pneumoniae directly from 18 Indian asthmatic patients. Sequence diversity was observed in the p30 genes from 16 clinical samples when the sequences were compared with the sequence of strain M-129. We also successfully expressed a fragment of the p30 gene (P30B) that includes the complete C-terminal proline-rich amino acid sequences in different Escherichia coli expression systems. The maltose binding protein (MBP)-P30B fusion protein was recognized by M. pneumoniae-infected patient sera in immunoblots, and the protein was immunogenic in mice. We further analyzed the reactivity of the MBP-P30B fusion protein with patient sera in an enzyme-linked immunosorbent assay (ELISA) and compared it with the reactivity obtained with a commercial kit (the Serion ELISA Classic kit). The sensitivity and the specificity of the in-house ELISA were 78.57% and 89.47%, respectively. This study suggests that the P30 protein can be used as an antigen along with other adhesin proteins for the immunodiagnosis of M. pneumoniae infection.
Clinical and vaccine immunology: CVI 03/2008; 15(2):215-20. · 2.37 Impact Factor
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ABSTRACT: Very little is known about the genetics of cystic fibrosis (CF) from the Indian subcontinent. The aims of the study were to identify the mutations and study the relation of genotype with phenotype in Indian children with CF.
A total of 100 patients with CF were screened for mutations in the CFTR gene. These included c.1521_1523delCTT (p.F508del) and c.3849+10 kb C>T mutations followed by single strand conformation polymorphism/heteroduplex analysis for mutations in 19 out of 27 exons of the CFTR gene.
At least one mutation was identified in 40 patients. The most common mutation identified was p.F508del; 20 patients were homozygous and 13 heterozygous. In addition, c.3849+10 kb C>T, c.1161delC, and p.S549N were identified in two patients each and p.R352Q, p.R1158X and p.R75Q were identified in one patient each. Three novel mutations, viz. c.1002-7_1002-5delTTT, p.G149X and p.L183I were also identified. Majority of patients who were p.F508del positive originated from Pakistan and north-western states of India. The phenotypes of all patients were classical. Genotype-phenotype correlation revealed that p.F508del positive patients had a more severe disease, manifesting at an earlier age.
A strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849+10 kb C>T and p.S549N. There is a need for large multicentric studies using more sensitive techniques for the identification of mutations in Indian CF patients.
Journal of Cystic Fibrosis 03/2008; 7(2):110-5. · 3.19 Impact Factor
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ABSTRACT: Diethylene glycol poisoning results in multiorgan dysfunction and requires a high index of suspicion for diagnosis. We report 11 patients of diethylene glycol poisoning, all of whom had renal failure and severe encephalopathy. The diagnosis was established by the presence of diethylene glycol in the paracetamol elixir consumed by these children; the amount of which ranged from 2.3 to 23% w/W. Consumption of large amount of toxin resulted in severe encephalopathy and high mortality in these children.
Journal of Tropical Pediatrics 01/2007; 52(6):442-4. · 1.39 Impact Factor
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ABSTRACT: Cystic fibrosis (CF) is considered to be very rare in Indian subcontinent. Based on reports of CF in migrants from Indian subcontinent to United Kingdom and United States of America, the prevalence of CF is estimated to be between 1/10,000 and 1/40,000 in this ethnic group. The present study was done to estimate the carrier frequency of F508del mutation among neonates using cord blood samples to reflect the prevalence of CF in the study population.
955 mothers delivering at our hospital between December 1999 and November 2000 were enrolled. Cord blood samples were analyzed for F508del mutation using polymerase chain reaction and gel electrophoresis. The frequency of patients homozygous for F508del mutation in the population was estimated using Hardy-Weinberg principle. The prevalence of CF was estimated by using the proportion of F508del homozygous cases out of all CF patients, as reported in various studies (19-44%) from Indian subcontinent.
Out of 955 cord blood samples, 4 were positive for F508del mutation. The carrier frequency and gene frequency of F508del mutation in the Indian population was calculated to be 1/238 (0.42%) and 1/477 (0.21%), respectively. Frequency of CF patients homozygous for F508del mutation is 1/228,006. The estimated prevalence of CF is 1/43,321 to 1/100,323 in Indian population.
CF does occur in Indian subcontinent though the prevalence is lesser than the Caucasian population.
Journal of Cystic Fibrosis 02/2006; 5(1):43-6. · 3.19 Impact Factor
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ABSTRACT: BackgroundVery little is known about the genetics of cystic fibrosis (CF) from the Indian subcontinent. The aims of the study were to identify the mutations and study the relation of genotype with phenotype in Indian children with CF.MethodsA total of 100 patients with CF were screened for mutations in the CFTR gene. These included c.1521_1523delCTT (p.F508del) and c.3849 + 10 kb C>T mutations followed by single strand conformation polymorphism/heteroduplex analysis for mutations in 19 out of 27 exons of the CFTR gene.ResultsAt least one mutation was identified in 40 patients. The most common mutation identified was p.F508del; 20 patients were homozygous and 13 heterozygous. In addition, c.3849 + 10 kb C>T, c.1161delC, and p.S549N were identified in two patients each and p.R352Q, p.R1158X and p.R75Q were identified in one patient each. Three novel mutations, viz. c.1002-7_1002-5delTTT, p.G149X and p.L183I were also identified. Majority of patients who were p.F508del positive originated from Pakistan and north-western states of India. The phenotypes of all patients were classical. Genotype–phenotype correlation revealed that p.F508del positive patients had a more severe disease, manifesting at an earlier age.ConclusionsA strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849 + 10 kb C>T and p.S549N. There is a need for large multicentric studies using more sensitive techniques for the identification of mutations in Indian CF patients.
Journal of Cystic Fibrosis.
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ABSTRACT: Pneumocystis carinii pneumonia (PCP), caused by opportunistic agent Pneumocystis jirovecii (formerly, Pneumocystis carinii is one of the most serious respiratory infection in immunocompromised patients.
The present study was conducted to compare polymerase chain reaction (PCR) assays targetting three different genes of Pneumocystis to study their application in its diagnosis.
One hundred and eighty (n = 180) clinical samples from 145 immunocompromised patients with clinical suspicion of PCP and 35 samples from control group of 30 immunocompetent individuals with respiratory infections other than PCP were prospectively examined for the presence of Pneumocystis jirovecii (P. jirovecii). All the samples were subjected to microscopic examination, one single [major surface glycoprotein, (MSG)] and two nested [mitochondrial large subunit ribosomal ribonucelic acid, (mtLSU rRNA) and internal transcribed spacer (ITS) region], polymerase chain reaction assays.
Microscopic examination was positive in only six (n = 6) patients, whereas single round MSG PCR detected P. jirovecii deoxyribonucleic acid (DNA) in 16 cases. When the clinical samples were tested by mtLSU rRNA and ITS nested PCR assays, it was possible to detect seven additional cases of PCP, making it to a total of 23 cases. None of the clinical specimens in control group (n = 30) were positive by any of the above-mentioned techniques. Amongst the 81 bronchoalveolar lavage (BAL) samples tested, 16 were positive by MSG PCR, while 20 were positive by both nested, i.e., mtLSU rRNA and ITS PCR assays. Similarly, out of 50 sputum samples, only three were positive by MSG, seven by mtLSU rRNA and six by ITS nested PCR assays.
It has been observed that MSG is relatively more sensitive when single round PCR assay is used for detection of human Pneumocystosis compared to the first (single) rounds of either ITS or mtLSU rRNA nested PCRs. However, the two nested PCRs using ITS and mtLSU rRNA have been found to be more sensitive. On comparison of two nested PCR assays, the results have been more or less comparable.
The Indian journal of chest diseases & allied sciences 50(4):321-7.
