Genetic study in children with mental retardation

Mental retardation with both genetic and environmental causes affects about 3% of the population. Etiology cannot be determined in at least 30-50% of cases. The aim of this study was to identify the percentage of minor chromosomal abnormalities in the children with probably genetic mental retardation. Twenty two children, 13 males and 9 females aged 2.5 to 12 years [6.25 +/- 1.34] with mental retardation attending the genetic outpatient clinic; Minoufiya university hospitals and Medical Genetics Center; Ain Shams University; were studied, in the period from August 2004 to December 2006. Children with IQ less than 70 and had at least one of the following additional criteria: prenatal or postnatal growth retardation, dysmorphic facial features, multiple congenital anomalies or neuropsychiatric abnormalities were included in this study. All studied children were subjected to: detailed history and three generation family pedigree, thorough clinical examination, anthropometric measuremants, lQ assessment by Wechsler-revised scale, visual and audiological assessment and imaging studies including brain CT, pelvi-abdominal ultrasonography, and echocardiography when needed. Plasma and urine amino grams and cyto genetic evaluation including routine conventional karyotyping using G-banding technique and chromosome elongation study by synchronization using MTX, FUDR and thymidine release. The degree of mental retardation was assessed according to WHO classification and DSM-IV criteria, 63.6% of then had mild MR, 27.2% had moderate MR and 4.5% had severe MR. The pedigree analysis of studied cases revealed positive consanguinity in 5 cases [22.7%] [1st cousin marriage] and positive family history of mental retardation in 2 cases [9.1%], and maternal history of miscarriages in 7 cases [31.8%]. As regard clinical presentation of studied cases, 13 cases [59%] presented with developmental delay, 6 cases [2 7.3%] presented with dysmorphic facial features and 3 cases [13.6%] presented with epilepsy. Clinical data revealed that, 41% had short stature, 72.7% had dysmorphic facial features, 4.5% had congenital heart disease, 41% had hand and foot anomalies and 45.4% had neurological abnormalities. Accurate conventional cyto genetic study within 450 band resolution [G-banding] revealed that nineteen cases [86.3%] of the studied cases had normal karyotypes and three cases [13.7%] showed the following chromosomal abnormalities: 45 XY, t [13, 14], 46 XX, del [5] and 47 XX,+mar. Chromosome elongation techniques [more than 550 bands]; confirmed these informations. It can be concluded that: chromosomal abnormalities could be one of the etiological causes of mental retardation; accurate conventional cyto genetic study still has its important role in their diagnosis and that chromosome elongation and high resolution chromosome analyses may have a complementary role and should be reserved for diagnosis of undetected cases by conventional cyto genetic studies

Hepatitis C virus infection among haemodialysis patients: risk factors and predominant gentype

This study was conducted on 100 haemodialysis [HD] patients [69 females and 31 males], from 8 to 67 years [mean 30.9 + 11.9 SD] and 50 apparently healthy controls with matched age and sex. All subjects were investigated for serum bilirubin, albumin, alanine transaminase [ALT] and aspartate transaminase [AST]. Serum hepatitis C virus [HCV] antibodies were detected by 2nd generation ELISA [ElAll] and 2nd generation RIB A test [RIBAII]. Serum HCV-RNA was assessed by reverse transcriptase -polymerase chain reaction [RT-PCR]. Haemodialysis patients were also subjected to Hepatitis B surface antigen [HbsAg] detection and histopathological examination of rectal snip to diagnose Schistosoma infection. Genotyping of [19] positive HCV RNA patients was performed using the INNO-LiPA [line probe assay] HCVII Kit [Innogenetics, N. V., Belgium]. Seventy seven [77%] of HD patients were found to be positive for HCV by EIAII, 68 of them were also positive by RIBA II and 8 were intermediate. HCV RNA was detected in 38% of patients by RT- PCR. A significant correlation between HCV infection in these patients versus length of time and frequency of dialysis as well as number of previous blood transfusion [P=0.009, P= 0.03, p=0.001 respectively] was detected suggesting nosocomial spread of HCV infection within the HD units. No significant correlation between HBsAg positivity and HCV infection was detected by EIAII, RIBAII, or PCR. Schistosoma infection was not significantly associated with anti-HCV status by using RIBAII or RT-PCR [p=0.9]. Genotyping of 19 HCV RNA positive patients on chronic HD revealed that genotype 4 was the predominant one [68.4%, 52.6% type 4 perse and 15.8% type 4 subtype h], type 1 was detected in 10.6% [5.3% for each of type 1a and 1b], while the remaining 21% were untypable strains. Further epidemiological and molecular studies to identify the routes by which HCV could be transmitted in HD units are needed

Evaluation of different methods for diagnosis of hepatitis C virus infection among haemodialysis patients

Haemodialysis [HD] patients are at high risk of hepatitis C virus infection. A comparative study was conducted to evaluate different methods for diagnosis of HCV infection. The study comprised 100 haemodialysis patients and 50 apparently healthy controls. All subjects were investigated for serum albumin, bilirubin, alanine aminotransferase [ALT] and aspartate aminotransferase [AST]. Serum HCV antibodies were detected by 2nd generation enzyme linked immunosorbent assay [ELISA II] and confirmed by recombinant immunoblot assay [RIBA II]. Serum HCV RNA was detected by reverse transcriptase [RT] polymerase chain reaction [nested PCR technique]. Out of 100 HD patients, 77 [77%] were found to be ELISA II positive and 38 [38%] were positive by RT-PCR. Out of 77 positive ELISA II, 68 were positive also by RIBA II and 8 were intermediate. The prevalence of HCV RNA positivity in ELISA II positive and in ELISA II negative groups were 31/77 [40.3%] and 7/23 [30.4%] respectively with no significant correlation. While in the control group, this correlation was highly significant [p=0.0004]. In normal population group [50] 13, 11,4 subjects were HCV positive by ELISA II, RIBA II and PCR respectively. A highly significant correlation [p=0.0008] was found between positive RIBA II and presence of HCV RNA by RT-PCR. In the HD group, compared to PCR results, the sensitivity of RIBA II was 68.4% and specificity was 32.3% versus 100% and 84.8% in the normal group. A highly significant correlation was found between ALT and AST levels in HCV RNA positive versus HCV RNA negative individuals in both groups. This finding was not verified with ELISA II or RIBA II in either groups. In conclusion, combined application of anti-HCV screening assay followed by a confirmatory RIBA assay and HCV RNA detection must be applied to establish HCV infection especially in immunocompromised patients undergoing dialysis. Serial ALT and AST testing must monitor those patients

Effect of some anesthetic techniques on postoperative pain after inguinal herniorrhaphy

Postoperative pain was assessed in 30 patients undergoing inguinal herniorrhaphy with three types of anesthesia; general anesthesia [thiopentone-nitrous oxide-halothane], general anesthesia with the addition of local infiltration of the abdominal wall [with 0.25% bupivacaine along the line of the proposed incision] and spinal analgesia [using 0.5% bupivacaine]. The severity of constant incisional pain, movement associated incisional pain and pain upon pressure applied to the surgical wound was assessed by the visual analogue self rating scale at 24, 48 hours and 8 days after the surgery. The addition of local anesthetic with general anesthesia significantly decreased the intensity of all types of postoperative pain compared with general anesthesia alone or spinal analgesia