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1.
Journal of Taibah University Medical Sciences. 2014; 9 (3): 219-223
in English | IMEMR | ID: emr-149713

ABSTRACT

To investigate polymorphism in exon 8 of the SLC3A1 gene in children with urinary cystine calculi in Khartoum. A semi-quantitative chemical method was used to analyse 175 urinary calculi removed surgically from paediatric patients at Soba Teaching Hospital in Khartoum between October 2005 and May 2009. DNA was extracted with phenol chloroform isoamyl alcohol, and exon 8 of the SLC3A1 gene was amplified in a thermocycler and sequenced with an AB3130 genetic autoanalyser. Of the 175 stones, 10 were cystine calculi [5.7%]. The sex ratio of the patients was 2.3:1 [boys to girls], and the mean age at cystine stone onset was 31.1 +/- 28.2 months [range, 3-125 months]. Of the 10 patients, 8 had a positive family history of calculi formation, 4 had bilateral calculi, 3 had both renal and urinary bladder calculi, and 2 had obstructive acute renal failure. All patients required more than one surgical operation. One patient had a missense mutation M467K in exon 8 of the SLC3A1 gene. The prevalence of cystine calculi among urinary calculi in Sudanese children was 5.7%. A family history was found in 80% of children. A mutation [M467T] was identified at exon 8 of the SLC3A1 gene in one child


Subject(s)
Humans , Male , Female , Cystine , Amino Acid Transport Systems, Neutral , Amino Acid Transport Systems, Basic , Exons , Polymorphism, Genetic , Child
2.
Sudan Journal of Medical Sciences. 2011; 6 (1): 39-42
in English | IMEMR | ID: emr-125039

ABSTRACT

The objective of this study is to search for Cryptosporidium parvum in Sudanese immunocompromised and immunocompetent patients presenting with diarrhea. Two hundred and thirteen stool specimens were collected from different groups of patients presenting with diarrhea and healthy control [immunocompromised: 78; immunocompetent: 90; Control: 45]. The immunocompromised group included 25 HIV positive patients, 27 tuberculosis patients, 11 patients with renal failure and 15 patients receiving immunosuppressive chemotherapy. Antigen ELISA was performed to detect the presence of the parasite in stool. Positive specimens were examined by the modified ZN stain to look for the oocyst of C.parvum. Seventy one of the immunocompromised patients [91.0%], twenty nine of immunocompetent patients [32.2%] and ten of the control group [22.2%] were found to be positive for C.parvum. A significant difference was noticed between the immunocompromised patients and the other groups [P<0.05]. Among the immunocompromised patients, the highest percentage of positive results [96.1%] was in the HIV patients. The percentage of positive results within the tuberculosis, renal failure and immunosuppressive patients were 92.6%, 83.3% and 86.6% respectively. The significant detection of C. parvum among the different groups of immunocompromised should raise the awareness of the clinicians towards this parasite as an important cause of diarrhea in such groups of patients


Subject(s)
Humans , Male , Female , Immunocompetence , Immunocompromised Host , Diarrhea/parasitology , Feces/parasitology , Cryptosporidium parvum/isolation & purification , AIDS-Related Opportunistic Infections
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