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Biomedical subjects

K K Naguib

Publications and source records attributed to K K Naguib.

At least 19 recordsLinked to original sources
PubMed1999

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.

Abnormalities, Multiple↗
PubMed1995

Indoor air pollution and acute lower respiratory infections in the first two years of life.

The relationship between outdoor air pollution and acute respiratory infections (ARI) was previously documented. There are recent indications for connection between indoor air pollution and ARI in infants and young children. The aim of this study was to identify the relationship of indoor air pollutants to acute lower respiratory infection (ALRI) in children (< 2 years). The indoor air pollutants concentrations were measured in the homes of the sample. The sample consisted of 115 children (< 2 years) representing the control group (24), ALRI but no pneumonia (24), pneumonia (30), severe pneumonia or very severe disease (37). Air sampling was performed to measure the concentration of total suspended particulates (TSP), SO2 and CO. These pollutants were found in higher concentrations in cases' homes (52.46 +/- 19.68 microg/m3, 298.15 +/- 669.37 microg/m3, and 1.92 +/- 3.60 ppm) than in controls' homes (31.92 +/- 8.76 microg/m3, not detected, and 0.33 +/- 1.63 ppm respectively). Whereas SO2 was detected only in houses using kerosene, TSP and CO were detected with the different types of cooking fuels. Their mean concentrations were highest for biomass (88.86 +/- 13.30 microg/m3 and 9.29 +/- 2.50 ppm) and lowest for gas (40.78 +/- 15.25 microg/m3 and 0.76 +/- 2.19 ppm). Measures to improve indoor air quality are highly required.

Acute Disease↗
PubMed1991

Human homologue for the mouse mutant disorganisation: does it exist?

We describe a newborn Arab male with defects similar to those seen in mice heterozygous for the mutant disorganisation (DS) gene. He had complete absence of the left lower limb including the left pelvic bone, hamartomas arising from the abdominal wall, a small penis, absent left half of the scrotal sac, absent left testicle, anterior displacement of the anus, and multiple vertebral defects. The similarity between the proband's anomalies and those found in affected heterozygotes for DS support the possibility of a human homologue of the DS gene.

Abnormalities, Multiple↗
PubMed1991

Central pulverulent (Coppock) cataracts. A sibship of two Arab females with full-cousin normal parents.

Two Arab (Saudi) sisters are described each with bilateral typical central pulverulent (powdery) or Coppock cataracts. As their unaffected parents are first cousins, the heredity is probably autosomal recessive, unlike the autosomal dominant heredity of the vast majority of previously described cases in the literature. Chromosomes were normal in all four individuals. There are no other children in the family. Both children and both parents were phenotypically Fy a - b+, reasonably common in Arab populations, so that any linkage to the Duffy blood group is neither supported nor refuted.

Cataract↗
PubMed1990

Apparently nonmosaic trisomy 22: clinical report and review.

We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.

Abnormalities, Multiple↗
PubMed1990

Down syndrome in Kuwait.

During a 7-year-period (1980-1986) trisomy 21 was confirmed in 635 cases (257 males and 278 females). There were 611 cases of trisomy 21 (96.2%), 12 of different translocations (1.9%), 9 of mosaicism (1.4%), and 3 with nonclassical karyotypes (0.5%). The frequency of chromosome aberrations in our study is compared to that of major world-wide cytogenetic surveys comprising 17,738 Down syndrome cases. These surveys showed that regular trisomy 21 constitutes 92.9%, translocations 4.3%, mosaicism 2.2%, and nonclassical karyotypes 0.5%.

Adolescent↗
PubMed1989

Familial uterine hernia syndrome: report of an Arab family with four affected males.

We report an Arab Bedouin family including four males with uterine hernia syndrome. All had a male chromosome constitution and phenotype, inguinal herniae, cryptochidism, and persistence of Müllerian derivatives. Histopathological studies confirmed the presence of both testicular tissue and Müllerian derivatives. The presence of two affected brothers and two affected maternal uncles suggests X-linked inheritance. Autosomal recessive determination with male sex limitation is also a possibility based on parental consanguinity in one sibship.

Anti-Mullerian Hormone↗
PubMed1988

New autosomal recessive faciodigitogenital syndrome.

Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed.

Abnormalities, Multiple↗
PubMed1987

Phenylketonuria in Kuwait and Arab countries.

Seven cases of phenylketonuria including a pair of siblings were detected among 451 institutionalized mentally retarded individuals in Kuwait. A further 13 cases from eight Arab families of different nationalities were ascertained among referral cases. The occurrence of phenylketonuria in Kuwait and other Arab countries is discussed in view of the high consanguinity rate and large family size. Our findings stress the need for neonatal screening.

Adolescent↗
PubMed1987

Trisomy 18 clustering in Kuwait.

Thirteen cases of trisomy 18 (T18) were ascertained clinically and cytogenetically during the period 1984-1986. Eight cases were delivered during 1986 in the Maternity Hospital out of 17,318 live births, making an incidence of 4.61/10,000, which is significantly higher than the international incidence as well as the incidence in previous years. The female-to-male sex ratio was 1.8/1, the median maternal age 32.5, and the median paternal age 40. There was no history of polyhydramnios. Five cases were delivered by cesarean section and four cases died in the neonatal period. All cases proved to be full trisomy 18 with no mosaicism detected; in one case parental inversion 9 was detected.

Chromosomes, Human, Pair 18↗
PubMed1987

Brachmann-de Lange syndrome in sibs.

We report an Arab family of phenotypically normal first cousin parents with two offspring showing variable manifestations of Brachmann-de Lange syndrome. The proband, who had many diagnostic symptoms of the syndrome with apparently normal chromosomes, died at the age of three months. His sister was less severely affected and lived for six years. The genetic basis of Brachmann-de Lange syndrome is discussed and homozygosity for an autosomal recessive allelle is suggested as an underlying cause in some cases.

Chromosome Aberrations↗