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Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (2): 187-192
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-154335


Glutaric acidemia type 1 [GA1] was thought to be a rare disorder in Arab countries. Recently, a relatively large number of patients with GA1 have been detected in Egypt. The aim of this work was to: [1] find out the commonest clinical characteristics of the disease among Egyptians presenting with GA1; [2] delineate the demographic factors that may lead to a high prevalence of GA1 among Egyptians; [3] Recommend the most suitable strategy to screen for the disease. The study included all patients with GA1 who presented at The Genetics Unit, Ain Shams University Hospital [GUASH] during the last three years. The information about patients with GA1 including the epidemiological and clinical data was obtained retrospectively from patients' files. The authors surveyed data of 26 patients in 23 families who were personally examined and the diagnosis was confirmed by laboratory data. The mean age of onset of symptoms was 5.8 +/- 2.2 months: the mean delay in establishing the diagnosis was 11.73 +/- 13.97 months. At the onset of symptoms, macrocephaly [85%] was the commonest feature of GAI followed by dystonia [69%], and persistent convulsions [50%]. Onset of symptoms occurred during an acute febrile illness in 68% of patients, which was associated with the worst forms of dystonia [X2 = 12.5, p =0.14]. The frequency of affected Christian families among all affected families was 43%, which is significantly higher than that expected of the Christian minority in Egypt [6-15%]. There has been no significant increase in consanguinity among those Christian families [F = 0.014204] pointing to a high gene frequency of GA1 in isolated areas in Upper Egypt. In the absence of mass newborn screening program, continuous Health Education program should be implemented to promote detection of early signs of GA1 such as macro-cephaly before the occurrence of acute crisis of encephalopathy especially in families with history of similar patients. We recommend that a nationwide program of extended tandem mass screening should cover all newborns in Egypt to promote early detection of patients with GA1 and to avoid the severe consequences of the delay in diagnosis

Humanos , Masculino , Feminino , Encefalopatias Metabólicas , Sinais e Sintomas , Consanguinidade , Triagem Neonatal , Recém-Nascido
Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (1): 69-78
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-154350


Organic acid disorders are a heterogeneous group of inborn errors of metabolism, in which organic acids accumulate in the body. They have high prevalence in Egypt because of a high rate of consanguineous marriages. Here we report our experience with the diagnostic evaluation of patients with organic acidemias as well as several other inborn errors of metabolism [lEMs] by liquid chromatography-tandem mass spectrometry [LC/MS-MS], gas-chro-matography mass spectrometry [GC/MS] and by isocratic cation exchange [high-performance liquid-chromatography] [HPLC] to evaluate the use of HPLC method for disease-associated metabolite screening. In this study, we screened 86 suspected Egyptians patients with organic acid disorders by LC/MS-MS, GC/MS and by HPLC aged from 3 days to 12 years old. Data obtained from the three methods were statistically analyzed to evaluate the specificity and sensitivity of the HPLC method over the other two methods and to pursue its precision in the diagnosis of organic acid disorders. Moreover, 17 urine samples were collected from patients with several other lEMs to evaluate the efficiency of HPLC in detecting abnormal metabolites in urine samples. The screening results showed that diagnostic efficiencies were varied among the three methods, HPLC showing a higher sensitivity of detecting normal urine as well as a highly satisfactory extent for the detection of different metabolic disorders. In addition, some typical urinary HPLC chromatograms of different metabolic disorders were presented to help the investigator who is going to start an organic aciduria screening program by HPLC to be familiar with various patterns. This study has indicated that HPLC is an easy applicable and useful technique for the initial screening of organic acid disorders and many other disease associated metabolites

Humanos , Masculino , Feminino , Cromatografia Líquida de Alta Pressão/métodos , Sensibilidade e Especificidade , Coleta de Urina , Criança , Lactente
Egyptian Journal of Hospital Medicine [The]. 2014; 55 (April): 239-244
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-165995


In spite of numerous studies published in the past few years on the topic, the effectof smoking on Alzheimer's disease and dementia remains uncertain. Case-control studies havelargely suggested that smoking lowers the risk of AD, whereas prospective studies have shownthat smoking increases this risk or has no effect on the probability of developing AD. The aim of this study is to compare the prevalence of Smoking in elderly withcognitive impairment and elderly with non-cognitive impairment. A Case control 88 participants aged 60 years and above. They wereselected from Ain Shams University Hospital from inpatient wards and outpatient clinics. Thestudied sample was divided into 3 groups: Group A [32 elderly patients with Alzheimer's disease],Group B [32 elderly patients with Mild cognitive impairment] and Group C [24 controls withnormal cognitive function].Comprehensive geriatric assessment, including detailed history, physicalexamination, and also cognitive assessment using Montreal Cognitive Assessment [MOCA] andMini mental status examination [MMSE].As regards smoking there was a highly statistical significant difference between the 3groups as non-smokers were more prevalent in Alzheimer's diseaseand Mild cognitiveimpairment groups in comparison to control group with [p-value= 0.001]. There was a highly significant negative association between smoking and cognitiveimpairment

Humanos , Masculino , Feminino , Cognição , Disfunção Cognitiva , Idoso
Egyptian Journal of Histology [The]. 2012; 35 (4): 853-861
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-170237


Cadmium is a highly toxic heavy metal with many hazardous effects. Selenium is an essential trace element with antioxidant properties. To evaluate the cadmium-induced DNA damage in rat lung cells and the possible protective role of selenium. Thirty-six adult male albino rats were used in this experiment. They were divided into four equal groups. Group I was the control group. Group II included rates that were injected intraperitoneally with cadmium chloride [CdCl[2]] [1.0 mg/kg/day] for 8 weeks. Group III included rates injected intraperitoneally with sodium selenite [Na[2]SeO[3]] [0.25 mg/kg/day] for 8 weeks. Group IV included rats injected intraperitoneally with both CdCl[2] [1.0 mg/kg/day] and Na[2]SeO[3] [0.25 mg/kg/day] for 8 weeks. At the end of the experiment, the lungs of rats were taken and processed for single-cell gel electrophoresis [comet assay]. In the control group, comets appeared with large bright heads and small tails. The injection of CdCl[2] in group II induced DNA damage in rat lung cells, indicated by increased migration in the comet assay. Comet cells appeared with small heads and long tails. Statistically, there was a significant increase in tail length, tail moment, and tail% DNA compared with the control. Injection of selenium alone did not show any difference from the control. Concomitant administration of both cadmium and selenium resulted in a partial decrease in the DNA damage in rat lung cells indicated by decrease in DNA migration in the comet assay. Comet cells appeared with large heads and relatively small tails compared with those of group II. A significant decrease was also observed in tail length, tail moment, and tail% DNA compared with group II. CdCl[2] could significantly induce DNA damage in rat lung cells. It was suggested that selenium could partially ameliorate DNA damage induced by cadmium

Pulmão , Eletroforese em Gel de Ágar/métodos , Ensaio Cometa/métodos , Substâncias Protetoras , Selênio , Dano ao DNA/genética
Alexandria Journal of Pediatrics. 1999; 13 (2): 519-522
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-50226


Low birth weight [LBW] is a major determinant of perinatal survival and postnatal morbidity. It is an indicator of socioeconomic development of the community. In this study we determined the occurrence of LBW among Saudi newborns and its relation to the obstetric history of their mothers. The birth weight of all Saudi infants born in King Khalid University Hospital [KKUH] between 1992 and 1995 and the obstetric history of their mothers were investigated. A total of 14747 newborn were included in the study, their weight ranged from 500-7000 g. The incidence of LBW [<2500 g] was 7.7%. [1141]. Results of multivariate logistic regression showed that the major obstetric risk factors are maternal age < 20 years [OR = 1.41, CI.07-1.85], primiparity [OR=1.41, CI.11-1.77], prematurity [OR=53.72, CI=45.66-63.21] and female newborn [OR=1.36, CI=1.17 -1.58]. Multiparity [>/= 5 deliveries] and history of abortion were not found to have significant statistical association with LBW. This study shows that simple parameters that are commonly collected by health workers can be helpful in prediction of the possibility of having a LBW newborn

Humanos , Masculino , Feminino , Incidência , Fatores de Risco , Idade Materna , Idade Gestacional , Gravidez Múltipla
EMJ-Emirates Medical Journal. 1999; 17 (3): 159-161
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-50760


Interstitial deletion of chromosome 3 with breakpoints at bands 3q23 - 3q25 has been reported in a few cases. We report here a patient with del [3] [q23q25.3], who presented with dysmorphic features common to other reported cases. However, the dysmorphism was less marked suggesting that the clinical features are variable in this syndrome

Humanos , Masculino , Citogenética , Cariotipagem
Annals of Saudi Medicine. 1996; 16 (4): 455-7
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-116205