Search

Clinical and mycological features of onychomycosis show variation with time and place. Onychomycosis is a major public health problem with high incidence, associated morbidity and long lasting treatment with anti-fungal agents. A study was carried out on 118 patients having clinical diagnosis of onychomycosis, attending the dermatology out-patient department of R. G. Kar Medical College, Kolkata. Nail clippings were subjected to direct microscopy and cultured on Sabouraud's Dextrose Agar with antibiotics. The commonest age group affected was 21-40 years with a female preponderance and housewives were most commonly affected group. Finger nail involvement were more frequent and distolateral subungal onychomycosis (DLSO) was the most common clinical type observed . Out of 118 cases total KOH positivity was in 72 (61.01%) and culture positivity was in 62 (52.54%). Total culture positive cases were 62 and total number of fungi identified were 66 as dual pathogen had been identified in four cases . Among 66 culture positive isolates dermatophytes were 30 ( 45.55%), candida 21(31.82%) and non-dermatophyte moulds (NDM) 15 ( 22.73%) . T. rubrum was the commonest etiological agent. Among dermatophytes, Trichophyton rubrum, and among NDM, Fusarium moniliforme, were the most common isolates identified in our study.

Isolated sulfite oxidase deficiency is a rare autosomal recessive inborn error of sulfur metabolism. Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. Missed diagnosis is not unusual because of variability in the sensitivity of the urinary sulfite and thiosulfate screening test. We present clinical, biochemical, and molecular data on two unrelated patients with isolated sulfite oxidase deficiency. The two patients belong to an Indigenous genetic isolate in Manitoba, Canada. Both patients (one male and one female, both now deceased) developed neonatal seizures and demonstrated progressive neurodevelopmental delay. Based on increased urinary excretion of sulfite, thiosulfate, and S-sulfocysteine and normal serum uric acid levels, sulfite oxidase deficiency was suspected. Both patients have a homozygous 4-bp deletion, 1347–1350delTTGT in the sulfite oxidase gene (SUOX), predicting a premature termination of the sulfite oxidase protein leading to absence of the carboxy-terminal third portion of the protein. This domain contains most of the contact sites essential for enzyme dimerization. This deletion mutation resulted in sulfite oxidase deficiency with early-onset severe clinical phenotype.

Trisomy 9p is a well-described dysmorphic syndrome. The physical features include hypertelorism, down-slanting palpebral fissures, deep-set eyes, down-turned corners of the mouth, and mild skeletal anomalies including hypoplastic terminal phalanges. We report an infant born with some of the typical features of trisomy 9p syndrome, as well as additional features that include extreme joint hyperlaxity with subluxation of the knees and elbows, arachnodactyly, and total anomalous pulmonary venous return. The karyotype revealed an unbalanced chromosome complement. Specifically, a derivative chromosome from a de-novo unbalanced translocation of chromosomes 9 and 15 resulted in partial trisomy of 9pter to 9q13 and deletion of the long arm of chromosome 15 proximal to band q13. Fluorescence in-situ hybridization studies and methylation analysis by Southern blotting revealed deletion of the SNRPN locus on the paternally derived chromosome 15, consistent with Prader-Willi syndrome. This infant represents the first reported case of trisomy 9p syndrome with total anomalous pulmonary venous return and hypoplasia of the amygdala and hippocampus, with the additional finding of Prader-Willi syndrome resulting from a derivative chromosome arising from an unbalanced de-novo t(9;15) translocation.

Background:Chlamydia trachomatisis recognized as one of the most common sexually transmitted pathogen in the world. 50-80% of infected females are asymptomatic. These untreated women are at risk of developing chronic sequelae leading to tubal pathology causing infertility. Infertility is defined as 1 year of unprotected intercourse without pregnancy. It may be primary or secondary.Aim:To find out the association of genitalChlamydia trachomatisinfection with female infertility.Materials and Methodology:This case control study has been carried out in collaboration with R. G. Kar Medical College and Institute of Post Graduate Medical Education & Research, India, between July 2012 and June 2013. 40 infertile and 40 pregnant women were enrolled by purposive sampling as per inclusion and exclusion criteria. ELISA test was performed to detect serum IgG and IgA antibody against recombinant analogs of MOMP and 3 different PCR assays were done targeting MOMP and rRNA DNA from DNA extracted from first void urine.Results:IgG seropositivity was significantly higher (15%vs0%,P=.0255) in cases than controls, though there was no significant difference in the proportion of IgA seropositivity among 2 groups (12.5%vs2.5%,P=0.2007). Out of 80 samples 2 samples showed the production of amplicons with R1 – R2 primers. Only 1 sample gave positive result with production of amplicons with all the 3 primers used (R1 – R2, CT0005 – CT06 and JM15 – JM16).Conclusion:PersistentC. trachomatisinfection must be recognized as a risk factor of infertility in this region of India. The low PCR positivity in FVU sample helps to conclude the diagnostic utility of serological tests in screening of infertile women.

Fusraium is a non-dermatophytic hyaline mould found as soil saprophytes and plant pathogens. Human infections are probably a result of various precipitating predisposing factors of impaired immune status. Immunocompetent individuals of older age group are also vulnerable to various unassuming saprophytic and plant pathogen. We report 5 cases with onychomycosis caused by a rare species of Fusarium , namely, Fusarium dimerum . Fusarium is known to cause a variety of infections like keratitis, eumycetoma, onychomycosis, skin lesions and sometimes disseminated infection in individuals with impaired immunity. Hence it is of utmost importance to identify this newly emerging fungal pathogen correctly and institute appropriate treatment to control human infections at the earliest so that disseminated infections can be avoided.