Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait

We studied 21 patients with Sanjad-Sakati syndrome [SSS] from 16 families. Parental consanguinity was recorded in 2 families [12.5%]. All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp [155-166del] in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers

Cytogenetic abnormalities and herdetiry thrombophilias among the abortees: study of 1000 couples

Recurrent miscarriage affects only 1% of all couples. It is one of the most frustrating experiences for both patients and clinicians. The present study aimed at studying: the role of cytogenetic abnormalities and hereditary thrombophilias in repeated pregnancy losses [RPL], and the associated risk factors. Kuwait Medical Genetics Centre A cross section study for cytogenetic abnormalities followed by a nested case control was conducted for 1000 couples referred because of RPL. A control group was selected at random from female patients attending the outpatient clinics for a reason other than abortion for comparison with those who were proved to have chromosomal abnormalities. Asubgroup of 100 female partners, who had no cytogenetic abnormalities, were further tested for the presence of factor V Leiden [FVL; Arg506Gln] and prothrombin [FII] gene mutations [G20210A]. the prevalence of chromosomal abnormalities was 4.4%; most of them were structural aberrations [79.5%] represented mainly by inversion and translocation. Carriers of FVL mutation [G1691A] among the patient's group was significantly higher than that of the control group [10% vs. 2% respectively].One patient was heterozygous for FII G20210A mutations. This was nearly the same like that found in controls. The percentage of consanguineous marriages among patient group was less than that among the control group. Chromosome study for couple who have had RPL must be carried out. For complete and proper workup we have to investigate the presence of FVL, and FII G20210A mutations among patients with normal karyotype

morpho-etiological description of congenital limb anomalies

Limb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis. In a retrospective study, 70 newborns with anomalies of the upper and/or lower limbs were ascertained through clinical examination, chromosomal analysis, skeletal surveys and other relevant investigations. Fetal causes of limb anomalies represented 55.8% of the cases in the form of 9 cases [12.9%] with chromosomal aberrations [trisomy 13, 18 and 21, duplication 13q and deletion 22q] and 30 cases [42.9%] with single gene disorders. An environmental etiology for limb anomalies was diagnosed in 11 cases [15.7%] as amniotic band disruption, monozygotic twin with abnormal circulation, vascular disruption [Poland sequence, sirenomelia and general vascular disruption] and an infant with a diabetic mother. Twenty cases [28.5%] had limb anomalies as part of sporadic syndromes of unknown etiology. The morpho-etiological work-up of limb anomalies adopted in the present study is valuable for detecting the cause of the anomaly and is crucial for its prevention. Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis

Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait

In a prospective study in Kuwait, 182 mentally retarded male patients who fulfilled 5 or more clinical criteria of fragile X syndrome were screened using polymerase chain reaction [PCR] testing. Twenty patients [11%] were highly suspected of having fragile X syndrome due to mutation at the FRAXA locus; none had mutation at the FRAXE locus. Of these, 11 [55%] were confirmed fragile-X-positive by both cytogenetic and PCR techniques. The most frequent clinical features were: prominent forehead, high arched palate, hyperextensible joints, long ears, prominent jaw, height > 10th centile and attention-deficit hyperactivity. Less common were avoidance of eye contact [45%], autism [45%] and seizures [30%]. Large testes were found in 55% of cases. Pre-pubertal and post-pubertal clinical criteria were different

Hypertension and its determinants among primary-school children in Kuwait: an epidemiological study

A multistage, stratified random sample of 1312 students [aged 6-10 years] was selected from the five regions in Kuwait. Parents were interviewed and weight, height and urine analysis of the children were taken. Blood pressure was measured on at least three separate occasions. The overall prevalence of hypertension [average systolic and/or diastolic blood pressure > 95th percentile for age and sex] was 5.1%. In multivariate logistic regression analysis, certain groups of Kuwaiti schoolchildren were much more likely to develop hypertension. They included children whose parents were consanguineous, children with a family history of hypertension and obese children

XX male: a report of two unrelated cases and review of literature

Two unrelated phenotypically males with 46,XX karyotype are presented. The first patient is 5.5 year old who presented with congenital undescended testis while the other patient is 35 year old who has infertility since 6 years. Hormonal profile of the second patient is consistent with hypergonadotrophic hypogonadism with low testosterone level. The first patient's profile revealed a picture consistent with 21-hydroxylase deficiency. FISH technique using [Quint-Essential-Y-specific DNA probe] specific for Yp11.2 region was applied on metaphase spreads revealed the presence of Yp11.2 sequence on the short arm of the X chromosome in the second patient while it was absent in the first patient. DNA analysis of both patients using SRY gene amplification revealed the existence of SPY gene in the second patient and absence of the gene in the first patient. The possible underlying mechanisms for sex reverse in both cases are discussed

Genotype-phenotype correlation among patients with dystrophinopathies

To correlate the site and size of dystrophin gene deletion with the clinical picture in patients with dystrophinopathies. The dystrophin gene is one of the largest known genes. More than half of the dystrophinopathy cases are associated with intrageneic deletions. The importance of the study arises from the fact that dystrophin cDNA probes provide a direct method of genetic diagnosis. This is the first study in an Arab population and only the second to use a three multiplex PCR method. Kuwait Medical Genetic Centre and Faculty of Medicine -Ain Shams University, Egypt Fifty-two patients with dystrophinopathies [50 with Duchenne muscular dystrophy [DMD] and 2 with Becker muscular dystrophy [BMD] from both Kuwait and Egypt were ascertained. Dystrophin gene deletions were detected using three multiplex reactions. DNA analysis showed that 71.4% of the patients had deletion of the dystrophin gene while 28.6% showed no deletion. 24.5% had two deleted exons while 14.3% had only one deleted exon. The most common deleted exons among the Kuwaiti patients were 81,45 and 48 while exons 19, 45, 48 and 51 were found more commonly deleted among the Egyptian patients. The onset of walking was not changed by the number of exons deleted except when five exons were deleted. However, delayed onset of walking was observed when exon 48,51 and 45 were deleted [r=0.6078, and p=0.110]. On the other hand, the average onset of weakness was neither correlated to the number of the exons deleted or to the deletion sites. Similar results were obtained regarding the average onset of wheel chair dependency. There was a slightly lower IQ with deletion of exons 48,45 and 12 but in general there is no correlation between the IQ and the site or the frequency of the deletion. Study of the intragenic deletions in 25 exons of the dystrophin gene using three different multiplex PCR sets revealed that 78%, 76% and 12% of DMD patients had deletion of each of the three sets separately. With all three sets together, the detection of deletion rate was increased to 86%. Fifty percent of the deleted exons were located in the distal hot spot, 8% in the proximal hot spot while 42% were scattered over both sides of the hot spot. No significant correlation was found between the size/site of the dystrophin deletions and the clinical severity. A multi centre larger study is recommended for a better understanding of the genotype-phenotype correlation

Clinico - genetic study of dystrophinopathies: a comparative study between Kuwait and Egypt

Duchenne and Becker muscular dystrophies [DMD and BMD] are one of the most common X-Linked disorder in human which are caused by mutations of the dystrophin gene located on the X chromosome. This study was carried out in both Kuwait and Egypt. Fifty two patients with dystrophinopathies were examined from both Kuwait and Egypt in order to [1] study some characteristic features of those patients and [2] identify gene deletions among them. Twenty six patients were selected randomly from both Kuwait and Egypt A special questionnaire including all relevant data was designed for this study. All patients were subjected to all relevant investigations including DNA analysis and muscle biopsy analyzed with three dystrophin monoclonal antibodies. The statistical package for social science [SPSS], Z test, Chi square test and Student t test were used for statistical analysis. There was a significant difference between the Kuwaiti and Egyptian patients regarding maternal age [P<0.005] but not for paternal age. The onset of walking was delayed in 40.6% of the cases while the onset of weakness was noticed in 19.3% of the Kuwaiti patients before 2 years of age. Wheel chair dependency was observed in 88.8% between the age 7-12 years. In both groups 82% have an IQ above 70 and 26% had lQ above 100. ECG abnormalities were seen in 77.8% of the patients. DNA analysis showed that 71.4% of the patients had a deletion in the gene while 28.6% had no deletion. Two deleted exons were found in 24.5% and 14.3% had only one deleted exon. The most common deleted exons among Kuwaiti patients were 8, 45, 48 while exons 19, 45, 48 and 51 were deleted more commonly in the Egyptians. Better identification, neonatal screening and DNA examination are urgently needed for precise diagnosis. Proper genetic counseling and prenatal diagnosis are strongly recommended for prevention and management

Clustering of trisomy 18 in Kuwait: genetic predisposition or environmental?

This study describes 59 newborns with regular trisomy 18 [Edwards' syndrome, T18] who were ascertained clinically and cytogenetically at the Kuwait Medical Genetic Centre from 1994 to 1997, out of 118 T18 cases identified from 1980 to 1997. Materials and T18 cases were ascertained clinically and cytogenetically shortly after birth. In addition to assessing the T18 birth prevalence rate and confidence limits during the years 1994-1997, we investigated the possible etiological factors by a case-control study with normal healthy newborns. Studied factors included gender, parental age, birth order, abortion, clinical variables [presentation, amniotic fluid and mode of delivery], and survival. The average T18 birth prevalence rate during the period was 8.95 per 10,000 live births [95% confidence limits 6.66-11.23]. The T18 cases were mostly females, with a male:female ratio of 1:2.1, and the majority [53%] died before the second week of life. Maternal age above 30 years was found to be a significant factor for T18. This high T18 birth prevalence rate suggests clustering of T18 in the highly inbred population of Kuwait. Such clustering may indicate a possible environmental, and to a lesser extent, genetic predisposition to aneuploidy nondisjunction

Trisomy 18 in Kuwait: a study of two decades

One hundred and eighteen patients with regular Trisomy 18 [T18] were ascertained clinically and cytogenetically in the Kuwait Medical Genetics Centre. The aim of this study was to provide an overview of T18 cases in Kuwait and highlight some associated factors, [out of the ascertained 118 T18 cases, 59 were delivered during the period 1994-1997]. The overall incidence rate during the years 1994 to 1997 was 9/10,000 livebirths [95% confidence interval 6.7 to 11.2 per 10,000 livebirths], which is considered high. The male:female ratio among T18 cases was 1:2.1. To investigate the factors associated with T18, a group-matched case-control study was undertaken which included 131 normal healthy controls. The mean maternal age of the T18 patients' mothers [31.9 years] was significantly higher [p=0.002] than the controls' mean maternal age [27.1 years]. Abnormal presentation was recorded in 14.4% in T18 cases compared to 5.4% in controls, while the mode of delivery was abnormal in 43.2% of cases [90% of them were cesarean section] compared to 15.3% in controls, [p<0.001]. Polyhydramnios occurred in 9.3% of the T18 cases versus 1.5% in controls, [p<0.001]. Significant seasonal variation in T18 cases was detected with a peak in spring [March-May], [p<0.05]. The most common anomalies observed were congenital heart [38.1%], gastrointestinal malformations [25.4%], limb anomalies [24.6%], microcephaly [20.3%], omphalocele [11%], eye anomalies 11% and genital anomalies [9.3%]. Multiplicity of malformations was noticed: [24.6% had only one malformation, 24.6% had two malformations, 17.8% had 3 malformations and 9.3% had 4 malformations]. In conclusion, the T18 incidence rate in Kuwait is high with possible associated factors of advanced parental age, polyhydramnios, abnormal presentation and mode of delivery

Prevention of post-operative naausea and vomiting following laparoscopic surgery Ephedrine vs. propofol

Postoperative nausea and vomiting [PONV] are relatively common troublesome distressing symptoms. The incidence is reported to be as high as 20-51%. Ninety adult ASA I and II patients scheduled for laparascopic gynecological or surgical interventions, were randomly and equally assigned to one of the three groups in the immediate postoperative period: Group 1 received 0.1 ml. kg [-1] normal saline intravenously, while Group 2 received 0.5 mg. kg [-1] ephedrine intramuscularly and Group 3 received 0.25 mg. kg [-1] propofol intravenously as preventive antiemitic therapy. Sixty-six, 33 and 50 percent of patients experienced nausea and vomiting syndrome in Group 1, 2 and 3 respectively. Both ephedrine and propofol proved to have antiemetic properties. Ephedrine treated group of patient had significant less emetic score than propofol. No significant hemodynamic changes were recorded in both groups

Neural tube defects in Kuwait: an overview study

One hundred and seventy seven patients with neural tube defects [NTD] were ascertained clinically and genetically in order to provide an overview of the neural tube defects in Kuwait, and to study some risk factors which may contribute to NTD. Of these patients, 48 cases were delivered in the maternal hospital, out of 11125 total live births making an incidence of 4.3/1000 which is considered high. The male to female sex ratio was 1:1.46. The mean maternal age was 27.44 +/- 6.17 while the mean paternal age was 32.54 +/- 7.69. Polyhydramnios was associated in 53.7%, abnormal presentation in 14.1%, associated anomalies in 38.4%, abnormal mode of delivery in 27.1% and prematurity in 19.8%. Chromosomal abnormalities was recorded in one case [0.6%] while autosomal recessive inheritance was recorded in 7.9%, multifactorial inheritance in 88% and genetic uncertain in 3.4%. The range of clinical manifestations showed wide spectrum of variability including meningocele / myelomeningocele at different sites [62%] anencephaly [24.9%], inencephaly [5.1%], Meckel Gruber [6.81%] and myelomeningocele with VATER association [0.5%]. Young maternal age, parity, polyhydramnios abnormal presentation and abnormal mode of delivery were found to be risk factors

Complete testicular feminization syndrome with 47,XYY karyotype: adouble hit phenomenon

A phenotypic female patient 18 years old primary amenorrhea, absent uterus, male serum testosterone level, and 47, XYY karyotype is discussed. An ultrasound scanning of the pelvic organs revealed the absence of uterus, and a laparoscopy confirmed the ultrasound findings. Laparotomy and bilateral gonadectomy were also performed. Histopathological study of both gonads showed that each was formed of small testicular tubules lined by sertoli cells without spermatogenic elements. Neither vas nor epididymis were identified macroscopically or microscopically. These findings are consistent with the complete form of testicular feminization syndrome in association with 47, XYY karyotype

safety and efficacy of desflurane

Desflurane is a new halogenated ether inhalational general anesthetic with low solubility in blood and body tissues. The aim of the study was to assess its anesthetic efficacy in elective surgical procedures, to evaluate its effect on patient's vital signs during maintenance and recovery and to detect the possible side effects [if any] on patient's liver and kidney functions. The study was carried out on thirty adult [ASA I and II] patients scheduled for different surgical procedures. All patients were premedicated with 0.1 mcg kg [-1] oral midazolam and induced with 1 mcg kg [-1] fentanyl followed by thiopentone sodium 4 mg kg [-1] and atracurium 0.5 mg kg [-1]. The inspired concentration of desflurane was gradually increased until the required depth of anesthesia was reached. The results showed hemodynamic stability under desflurane. It has dose-dependent hypotensive effects with no arrhythmia. It potentiated atracurium, as the total dose needed to produce complete relaxation was 0.36 +/- 1.18 mg kg [-1]. There was no observable effect on both liver and kidney function given the small number of patients that were included in this study. In the post anesthetic period desflurane showed rapid recovery [3.81 +/- 4.076] and patient's recovery room stay was [17.22 +/- 1.079 min]. No postoperative complications were detected

Proteus syndrome in an Arab child

We report on the first Arab boy with Proteus syndrome. He showed multiple lipomata, macrodactyly of right foot, a large hemangioma, giant cafe'-au-lait spot, cerebroid gyriform configuration of the soles and hydrocele. There was no macrocephaly, skull exostoses or neurological involvement. His mother has mild hemihypertrophy of the left foot which raises the possibility of an autosomal dominant mode of inheritance

Familial left handedness

This study is part of a study of left handedness among preparatory school students in Alexandria during the scholastic year 1992-1993, aiming to study the familial aggregation of left handedness among left handed students. The overall prevalence of left handedness was 2.65% but, if we put in consideration all left handed family members, the prevalence of left handedness would increase to 15.4%, with a range that varies from 13.9% to 16.78 and 16.8, when both parents are right handed, the father is left handed, and the mother is left handed, respectively. The prevalence of familial left handedness [29.28%] differs according to the sex of left handed parent. It is most frequent when both parents were left handed, frequent when the mother is left handed, and less frequent when the father is left handed. This finding reflects the genetic role played at least in some families with left handedness, and the maternal effect and/or genomic imprinting

Left handedness among preparatory school students in Alexandria

In order to study left handedness among school students, 13636 students were included to estimate the prevalence of left handedness among the Alexandria preparatory school. The overall prevalence of left handedness was 2.65%. left handedness in male sex [3.12%] was higher than in female sex [2.19]. bilateral handedness was found in 0.06%. the prevalence of consanguinity among left handed group [19.61] was more than that among the right handed group [16.49%]. Left handed mothers were found in 7.73% of left handed group and 1.89% in the control group. The prevalence of left handed relatives among the left handed students was 32.87% compared with 19.19% in the right handed students. The scholastic achievement among the left handers was more or less similar to that among the right handed with no significant difference