Diagnostic Facilities (diagnostic + facility)

Distribution by Scientific Domains


Selected Abstracts


Cystic fibrosis in India,

PEDIATRIC PULMONOLOGY, Issue 12 2007
S.K. Kabra
Abstract Cystic fibrosis (CF) was considered to be non-existent in Indian subcontinent. Reports in last one decade have suggested that cystic fibrosis occurs in India but its precise magnitude is not known. Studies on migrant Indian population in United States and United Kingdom estimate frequency of CF as 1:10,000 to 1:40,000. The clinical features are similar to that reported in Caucasian population. CF in Indian children is usually diagnosed late and in advanced stage. Children are more malnourished and may have clinically evident deficiency of fat soluble vitamins. The frequency of clubbing, colonization with Pseudomonas, and laboratory evidence of pseudo-Bartter syndrome is relatively more at the time of diagnosis. Diagnostic facilities in form of sweat chloride estimation and genetic studies are not available readily. Mutation profile is different. The frequency of common mutation F508del in Indian children is between 19% and 34%. Other mutations are heterogeneous. Management of CF in India is difficult due to less number of trained manpower, limited availability, and high cost of pharmacologic agents. The determinants of early death include: severe malnutrition and colonization with Pseudomonas at the time of diagnosis, more than four episodes of lower respiratory infection per year and age of onset of symptoms before 2 months of age. To conclude, CF does occur in India; however, precise magnitude of problem is not known. There is need to create awareness amongst pediatricians, developing diagnostic facilities, and management protocols based on locally available resources. Pediatr Pulmonol. 2007; 42:1087,1094. 2007 Wiley-Liss, Inc. [source]


Lower genital tract lesions requiring surgical intervention in girls: Perspective from a developing country

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 10 2009
Sebastian O Ekenze
Aim: To determine the spectrum, outcome of treatment and the challenges of managing surgical lesions of lower genital tract in girls in a low-resource setting. Method: Retrospective study of 87 girls aged 13-years and younger, with lower genital tract lesions managed between February 2002 and January 2007 at the University of Nigeria Teaching Hospital, Enugu, southeastern Nigeria. Clinical charts were reviewed to determine the types, management, outcome of treatment and management difficulties. Results: The median age at presentation was 1 year (range 2 days,13 years). Congenital lesions comprised 67.8% and acquired lesions 32.2%. The lesions included: masculinised external genitalia (24), vestibular fistula from anorectal malformation (23), post-circumcision labial fusion (12), post-circumcision vulval cyst (6), low vaginal malformations (6), labial adhesion (5), cloacal malformation (3), bifid clitoris (3) urethral prolapse (3), and acquired rectovaginal fistula (2). Seventy-eight (89.7%) had operative treatment. Procedure related complications occurred in 19 cases (24.4%) and consisted of surgical wound infection (13 cases), labial adhesion (4 cases) and urinary retention (2 cases). There was no mortality. Overall, 14 (16.1%) abandoned treatment at one stage or another. Challenges encountered in management were inadequate diagnostic facilities, poor multidisciplinary collaboration and poor patient follow up. Conclusion: There is a wide spectrum of lower genital lesion among girls in our setting. Treatment of these lesions may be challenging, but the outcome in most cases is good. High incidence of post-circumcision complications and poor treatment compliance may require more efforts at public enlightenment. [source]


Cystic fibrosis in India,

PEDIATRIC PULMONOLOGY, Issue 12 2007
S.K. Kabra
Abstract Cystic fibrosis (CF) was considered to be non-existent in Indian subcontinent. Reports in last one decade have suggested that cystic fibrosis occurs in India but its precise magnitude is not known. Studies on migrant Indian population in United States and United Kingdom estimate frequency of CF as 1:10,000 to 1:40,000. The clinical features are similar to that reported in Caucasian population. CF in Indian children is usually diagnosed late and in advanced stage. Children are more malnourished and may have clinically evident deficiency of fat soluble vitamins. The frequency of clubbing, colonization with Pseudomonas, and laboratory evidence of pseudo-Bartter syndrome is relatively more at the time of diagnosis. Diagnostic facilities in form of sweat chloride estimation and genetic studies are not available readily. Mutation profile is different. The frequency of common mutation F508del in Indian children is between 19% and 34%. Other mutations are heterogeneous. Management of CF in India is difficult due to less number of trained manpower, limited availability, and high cost of pharmacologic agents. The determinants of early death include: severe malnutrition and colonization with Pseudomonas at the time of diagnosis, more than four episodes of lower respiratory infection per year and age of onset of symptoms before 2 months of age. To conclude, CF does occur in India; however, precise magnitude of problem is not known. There is need to create awareness amongst pediatricians, developing diagnostic facilities, and management protocols based on locally available resources. Pediatr Pulmonol. 2007; 42:1087,1094. 2007 Wiley-Liss, Inc. [source]


Closely linked cis -acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes,

HUMAN MUTATION, Issue 12 2007
S. Ennis
Abstract In its expanded form, the fragile X triplet repeat at Xq27.3 gives rise to the most common form of inherited mental retardation, fragile X syndrome. This high population frequency persists despite strong selective pressure against mutation-bearing chromosomes. Males carrying the full mutation rarely reproduce and females heterozygous for the premutation allele are at risk of premature ovarian failure. Our diagnostic facility and previous research have provided a large databank of X chromosomes that have been tested for the FRAXA allele. Using this resource, we have conducted a detailed genetic association study of the FRAXA region to determine any cis -acting factors that predispose to expansion of the CGG triplet repeat. We have genotyped SNP variants across a 650-kb tract centered on FRAXA in a sample of 877 expanded and normal X chromosomes. These chromosomes were selected to be representative of the haplotypic diversity encountered in our population. We found expansion status to be strongly associated with a ,50-kb region proximal to the fragile site. Subsequent detailed analyses of this region revealed no specific genetic determinants for the whole population. However, stratification of chromosomes by risk subgroups enabled us to identify a common SNP variant which cosegregates with the subset of D group haplotypes at highest risk of expansion (,=17.84, p=0.00002). We have verified that this SNP acts as a marker of repeat expansion in three independent samples. Hum Mutat 28(12), 1216,1224, 2007. 2007 Wiley-Liss, Inc. [source]