Cerebrospinal fluid free sialic acid and aspartate transaminase levels in meningitis.

BACKGROUND: Sialic acid (SA) is a nine carbon sugar derived from mannosamine and pyruvate. High levels of sialic acid and aspartate transaminase (AST) levels in cerebrospinal fluid have been described in pyogenic meningitis (PM) compared to tubercular meningitis (TBM). OBJECTIVES: To evaluate the levels of CSF free SA in PM and TBM and to assess the correlation between CSF free SA and CSF glucose or total protein levels. PATIENTS AND METHODS: A total of 122 subjects were studied and divided into children and adults. Further, these have been subdivided into controls, PM and TBM. CSF free SA was estimated by thiobarbituric acid assay of Warren and AST by Reitmann and Frankel method. RESULTS: CSF free SA and AST levels in children and adults were significantly high in PM (p<0.001) as compared to TBM and controls. CONCLUSION: A very high CSF free SA and AST were found to be characteristic of PM, making them useful parameters to differentiate PM from TBM.

Alagille syndrome with de novo del(20) (p11.2).

We report on an Arab boy with Alagille syndrome and a de novo deletion of the short arm of chromosome 20 with a 46,XY, del(20)(p11.2) chromosome constitution. Other reported cases are briefly reviewed.

Trisomy 18 in Kuwait.

BACKGROUND: Trisomy 18 (Edwards' syndrome, T18) is the second most common trisomy in man. We describe 118 children with regular T18 who were ascertained clinically and cytogenetically in the Kuwait Medical Genetics Centre during 1980-1997. METHODS: Ascertainment of T18 cases was performed shortly after birth. Chromosomal studies were carried out in addition to other relevant investigations. To investigate the factors associated with T18, a case-control study was carried out with 131 normal healthy newborns. Studied factors included maternal and paternal age, birth order, abortion, associated malformation, and survival. Multiple logistic regression analysis was used to adjust for confounding between variables. RESULTS: There was a preponderance of females among T18 cases (female:male ratio 2.1:1). The majority of T18 cases (53%) died before the second week of life. The most common associated anomalies were: congenital heart (38.1%) and gastrointestinal (25.4%). Multiplicity of malformations was also observed. Significant seasonal variation in T18 cases was detected with a peak in spring. Of the 118 T18 cases, 59 were delivered during 1994-1997 (average overall T18 birth prevalence rate 8.95 per 10 000 live births [95% CI: 6.66-11.23]). Concerning maternal age, 30.5% of the T18 cases' mothers were > or =35 years compared to 10.7% in the control group. The difference was statistically significant, P = 0.002. Logistic regression analysis showed that maternal age >30 years was a significant risk factor for T18, after adjusting for confounding with paternal age. Paternal age and abortion were not found to be significant risk factors. CONCLUSION: Trisomy 18 birth prevalence rate is high in Kuwait with advanced maternal age as a significant risk factor.

PIP: This paper describes associated factors of trisomy 18 (T18) or Edwards' syndrome among infants in Kuwait. A case control study of 131 normal newborn controls was undertaken. The study included information about gender, maternal age, paternal age, birth order, reproductive history, consanguinity, survival, and associated anomalies. Results showed a preponderance of females among T18 cases (female/male ratio, 2.1:1). The difference between the T18-case mothers and the control-group mothers was statistically significant (P = 0.002); however, there was no significant difference with regard to paternal age. The logistic regression analysis showed that the odds ratio for 2 abortions with reference to (0/1) abortion was 1.086, which is statistically significant as a risk for T18. The majority of children with T18 died before the second week of life. With regard to malformations, the most common associated anomalies were congenital heart and gastrointestinal abnormalities. Thus, the prevalence of T18 is high in Kuwait, with advanced maternal age as a significant risk factor.

Nucleolar organizer region heteromorphism associated with trisomy-21: a risk factor for non-disjunction?

An unusual nucleolar organizer region (double NOR) on chromosome 13 was observed in a Down syndrome child [47, XY, +21, dNOR(13)]. The variant chromosome was inherited from the mother [46, XX, dNOR(13)]. The extra chromosome 21 in the proband was maternal origin. The frequency of NOR chromosome association showed relatively high frequency in the mother and proband as compared to the controls. The result suggest that chromosome variants involving extra copies of NOR may indeed be involved in the meiotic nondisjunction of chromosome-21.

Segregation of acrocentric chromosome association in familial dicentric Robertsonian translocation t(14p;22p), aneuploidy (trisomy-21) and heteromorphism.

The frequency and types of acrocentric chromosome association were quantitatively analysed in a Down syndrome child with unusual karyotype, 46, XX, -14, -22, t dic (14p;22p), +21, 21S+. Father and 4 sibs were heterozygous carriers for t dic (14p;22p). The variant 21S+ was inherited from the mother. The occurrence of translocation and trisomy in the same individual is extremely rare. Acrocentric chromosome association was analysed in this interesting family to understand the interrelationship of acrocentric chromosome association, Robertsonian translocation and heteromorphism, as possible predisposing factors for nondisjunction. Our findings suggest that acrocentric chromosome association is a heritable and nonrandom phenomenon. Heterozygous carriers for translocations and variants are likely to be at increased risk of nondisjunction. Long term family studies will enable to ascertain the causal-relationship of these factors more precisely.

Cytogenetic studies in a population suspected to have chromosomal abnormalities.

The present study describes the cytogenetic findings in cases suspected with chromosomal abnormalities, in cases of mental retardation, multiple congenital malformations, clinical features of Down's syndrome, Klinefelter's syndrome, Turner's syndrome, ambiguous sex, sterility, amenorrhea and history of repeated spontaneous abortions in couples. Cytogenetic studies were done in 144 of the total 205 cases. In all, 57 (39.58%) were shown to have chromosomal abnormality and of these, 34 cases (25.7%) were Down's syndrome. Sex chromosome abnormality was found in 19 cases (13.2%). The results confirm the significant contribution of chromosomal abnormalities in the genesis of mental retardation, and abnormal sexual development.

Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation.

A child with fragile secondary constriction 2q11 associated with unusual clinical features and psychomotor retardation is described. The pathogenetic significance of this fragile site still remains unclear, and heterogeneity of clinical manifestations is not well understood.

Normal pregnancy- a state of insulin resistance.

BACKGROUND: Purpose of insulin resistance (IR) adapted by mother is to deliver enough quantity of nutrients to the growing fetus. Many maternal hormones and factors play role in causation of IR during pregnancy. AIM: The study aims at evaluating IR at different trimesters of pregnancy. MATERIALS AND METHODS: Pregnant women at 1(st), 2(nd) and 3(rd) trimester were grouped into groups I, II and III respectively (n=20 in each group). Healthy non-pregnant women were taken as controls (n=30). Fasting plasma glucose (FPG) and fasting serum insulin (FSI) were measured and IR indices such as fasting glucose to insulin ratio (FGIR), quantitative insulin sensitivity check index (QUICKI), log FSI and log HOMA1-IR were calculated. The student's t-test and one way Analysis of variance (ANOVA) were used for data analysis. RESULTS: The mean FSI, log FSI and log HOMA 1-IR were significantly higher in 2(nd) and 3(rd) trimesters while QUICKI was significantly lower in 2(nd) and 3(rd) trimesters of pregnancy when compared with controls. Also, mean FGIR was found to be significantly lower in 3rd trimester when compared with controls. CONCLUSION: As pregnancy advances, IR increases. Increased IR is associated with poor maternal and fetal outcome. Screening of all pregnancy for IR and early intervention may help to reduce the associated complications.