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1.
Mol Cell Biochem ; 446(1-2): 185-197, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29363057

RESUMEN

Data from our previous work indicate that Lamotrigine (LTG) is teratogenic in the mouse. In the present study, we attempted to determine the possible protective effects of exogenous folate on LTG-induced fetal anomalies in TO mouse. Experiment I entailed administering 4 mg/kg of folinic acid (FA) and (25 mg/kg) of LTG intraperitoneally three times on gestation day (GD) 8 to a group of mice; other groups were a group that received similar volumes of saline, a group that received LTG and Saline, a group that received FA and saline. Experiment 2 involved administering groups of mice with daily 3 doses FA (or proportionate volume of saline) on GD 5 through 10 and either 3 doses of saline on GD8, or 3 doses of LTG on GD8. Maternal plasma concentrations of FA, vitamin B12 and homocysteine were determined an hour after the last injection from one-half of all animals. The other half were allowed to go to term (GD18) when they were euthanized and their fetuses were examined for visceral and skeletal malformations. A high incidence of resorption, abortion, embryolethality, congenital malformations, and intrauterine growth restriction (IUGR), was observed in the LTG-treated group. Folic acid and B12 levels were decreased and homocysteine concentration increased significantly in LTG groups. Mice receiving LTG with FA had normal levels of folate, Vitamin B12 and homocysteine levels, and the fetuses had fewer birth defects similar to the controls which were given saline only. Supplemental FA ameliorated to a great extent the LTG-induced embryonic resorption and malformations and restored the FA status.


Asunto(s)
Anomalías Múltiples/inducido químicamente , Anomalías Múltiples/embriología , Anomalías Múltiples/prevención & control , Feto/embriología , Leucovorina/farmacología , Triazinas/efectos adversos , Anomalías Múltiples/patología , Animales , Feto/patología , Lamotrigina , Ratones , Triazinas/farmacología
2.
East Mediterr Health J ; 22(5): 293-300, 2016 Aug 18.
Artículo en Inglés | MEDLINE | ID: mdl-27553395

RESUMEN

This descriptive study evaluated the nutrient adequacy of the diet of infants (aged 6-11.9 months) and toddlers (aged 12-24 months) in the United Arab Emirates. A random sample of 1000 infants and toddlers was recruited from 2 cities (Al Ain and Dubai) from March 2011 to February 2012 and their usual nutrient intake was determined using 24-hour recall. In all, 54.2% of infants and 25.2% of toddlers were breastfeeding. Mean energy intake of infant girls in Al Ain and Dubai was 747 (SD 189) kcal and 773 (SD 215) kcal respectively and 810.5 (SD 232.2) kcal and 821.9 (SD 262) kcal for boys. In toddlers, mean energy intake for girls in Al Ain and Dubai was 1032.8 (SD 252) kcal and 1013 (SD 339.1) kcal respectively and 1057.2 (SD 201.8) kcal and 1030.3 (SD 341.7) kcal for boys. Iron intake was low in both groups. Mean body mass index and body weight and height were similar to World Health Organization figures but significant numbers of infants and toddlers of both sexes were over- or underweight. Although mean energy and macronutrient intakes were comparable to the RDA, significant numbers were over- or underfed.


Asunto(s)
Lactancia Materna , Ingestión de Energía , Preescolar , Encuestas sobre Dietas , Femenino , Humanos , Lactante , Entrevistas como Asunto , Masculino , Investigación Cualitativa , Encuestas y Cuestionarios , Emiratos Árabes Unidos
3.
East. Mediterr. health j ; 22(5): 293-300, 2016-05.
Artículo en Inglés | WHO IRIS | ID: who-259965

RESUMEN

This descriptive study evaluated the nutrient adequacy of the diet of infants [aged 6-11.9 months] and toddlers [aged 12-24 months] in the United Arab Emirates. A random sample of 1000 infants and toddlers was recruited from 2 cities [Al Ain and Dubai] from March 2011 to February 2012 and their usual nutrient intake was determined using 24-hour recall. In all, 54.2% of infants and 25.2% of toddlers were breastfeeding. Mean energy intake of infant girls in Al Ain and Dubai was 747 [SD 189] kcal and 773 [SD 215] kcal respectively and 810.5 [SD 232.2] kcal and 821.9 [SD 262] kcal for boys. In toddlers, mean energy intake for girls in Al Ain and Dubai was 1032.8 [SD 252] kcal and 1013 [SD 339.1] kcal respectively and 1057.2 [SD 201.8] kcal and 1030.3 [SD 341.7] kcal for boys. Iron intake was low in both groups. Mean body mass index and body weight and height were similar to World Health Organization figures but significant numbers of infants and toddlers of both sexes were over- or underweight. Although mean energy and macronutrient intakes were comparable to the RDA, significant numbers were over- or underfed


La présente étude descriptive avait pour objectif d'évaluer la valeur nutritionnelle de l'alimentation des nourrissons [6 à 11,9 mois] et des jeunes enfants [12 à 24 mois] aux Emirats arabes unis. Un échantillon aléatoire de 1000 nourrissons et de jeunes enfants a été sélectionné dans deux villes [Al-Aïn et Dubaï] entre mars 2011 et février 2012, et leur apport nutritionnel habituel a été déterminé au moyen du rappel des 24h. Au total, 54,2% des nourrissons et 25,2% des jeunes enfants étaient allaités au sein. L'apport énergétique moyen des nourrissons de sexe féminin à Al-Aïn et Dubaï était de 757 kcal [ET 189] et de 773 kcal [ET 215] respectivement, et de 810,5 kcal [ET 232,2] et de 821,9 kcal [ET 262] pour les nourrissons de sexe masculin. Concernant les jeunes enfants, l'apport énergétique moyen des petites filles à Al-Aïn et Dubaï était de 1032,8 kcal [ET 252] et de 1013 kcal [ET 339,1] respectivement, et de 1057,2 kcal [ET 201,8] et de 1030,3 kcal [ET 341,7] pour les petits garçons. L'apport en fer était faible dans les deux groupes. L'index de masse corporelle ainsi que le poids corporel et la taille moyens étaient similaires aux chiffres de l'Organisation mondiale de la Santé, mais un nombre important de nourrissons et de jeunes enfants des deux sexes étaient en surpoids ou souffraient au contraire d'insuffisance pondérale. Bien que l'apport énergétique et l'apport en macronutriments moyens étaient comparables aux apports journaliers recommandés, un nombre important des sujets étaient sur ou sous-alimentés


Asunto(s)
Apoyo Nutricional , Alimentos , Estado Nutricional , Lactancia Materna , Lactante , Encuestas y Cuestionarios , Padres , Emiratos Árabes Unidos
4.
Reprod Toxicol ; 29(3): 366-77, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20206253

RESUMEN

Vigabatrin (VGB) has several therapeutic advantages over older antiepileptic drugs (AED), but there is a lack of information about its potential reproductive toxicologic effects. Our aim was to evaluate the consequences of VGB administered during late gestation on fetal growth and development in the mouse. Based on the results of our previous study, we administered groups of mice a single dose of 450 mg/kg VGB on one of gestation days (GD) 15, 16 or 17. Fetuses were collected on GD 18. VGB groups had a significant incidence of fetal death, abortion, intrauterine growth restriction (IUGR), and hypoplasia of the axial skeleton, metacarpals, metatarsal and phalanges. Abortion was characterized by visible hemorrhagic expulsion of the embryos with their membranes. Maternal plasma folate (FA) and vitamin B12 concentrations were found to be markedly reduced within 12h of VGB treatment. Mice were supplemented with FA from GD 12 through GD 17 with or without a single dose of VGB on GD 15. This group had no abortions. Their fetuses had better body weight and lower frequency of IUGR than those of the non-supplemented VGB group. These data suggest that reductions in maternal FA and vitamin B12 concentrations play an important role in fetal loss, IUGR and skeletal hypoplasia induced by VGB during late gestation in the mouse. In view of the finding that a significant maternal toxicity is associated with this dose regimen, additional groups of mice were treated with 350 mg/kg VGB during embryogenesis and late gestation. This treatment was found to be maternally nontoxic. However, this low dose also resulted in significant fetal loss and IUGR when treatment occurred during late gestation. These data support the hypothesis that late gestation is particularly susceptible to VGB-induced fetal loss and IUGR in the mouse.


Asunto(s)
Anticonvulsivantes , Desarrollo Fetal/efectos de los fármacos , Vigabatrin , Animales , Anticonvulsivantes/efectos adversos , Anticonvulsivantes/farmacología , Huesos , Suplementos Dietéticos , Desarrollo Embrionario/efectos de los fármacos , Femenino , Retardo del Crecimiento Fetal/inducido químicamente , Feto , Ácido Fólico/efectos adversos , Ácido Fólico/farmacología , Ratones , Ratones Endogámicos , Sistema Musculoesquelético , Embarazo , Reproducción , Mortinato , Vigabatrin/efectos adversos , Vigabatrin/farmacología , Vitamina B 12/efectos adversos , Vitamina B 12/farmacología
5.
Clin Exp Dermatol ; 34(2): 178-82, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19018792

RESUMEN

Exfoliative erythema of malnutrition is a collective term for skin lesions caused by a combination of multiple deficiencies in vitamins, microelements, essential fatty acids and amino acids. We report a 3-year-old Iraqi girl with malnutrition due to coexisting coeliac and Hartnup's disease. On admission to hospital, she presented with kwashiorkor, anaemia, hepatitis and hypoalbuminia. She had severe skin changes with erythema, desquamation, erosions and diffuse hyperpigmentation involving the whole integument, particularly the perioral area, trunk and legs. She also had angular cheilitis, glossitis, conjunctivitis and diffuse alopecia. After treatment with a high-protein gluten-free diet and supplementation with vitamins and microelements there was a rapid improvement in the skin lesions. The severity of the skin lesions in this case can be explained by the coexistence of two metabolic diseases causing complex malnutrition.


Asunto(s)
Enfermedad Celíaca , Trastornos de la Nutrición del Niño , Eritema , Glútenes/efectos adversos , Enfermedad de Hartnup , Alopecia/complicaciones , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/patología , Trastornos de la Nutrición del Niño/complicaciones , Trastornos de la Nutrición del Niño/dietoterapia , Preescolar , Dieta Sin Gluten , Eritema/dietoterapia , Eritema/etiología , Eritema/patología , Femenino , Glositis/complicaciones , Enfermedad de Hartnup/complicaciones , Enfermedad de Hartnup/dietoterapia , Enfermedad de Hartnup/patología , Humanos , Padres/educación , Piel/patología , Resultado del Tratamiento , Vitaminas/administración & dosificación
6.
Community Genet ; 8(3): 186-96, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-16113536

RESUMEN

The UAE society is cosmopolitan, but the indigenous inhabitants are traditional with puritanical values despite their exposure to other vastly different cultures and habits. Marriages between consanguineous couples are still the norm rather than the exception. As a result, there is a high frequency of genetic disorders, particularly autosomal recessive types. Despite the high frequency of genetic disorders like haemoglobinopathies and others characteristically found in this population, genetic services are inadequate. Screening for certain disorders like thalassaemia are not applied on a wide scale. Abortion is illegal, and therefore, prenatal diagnosis or preconception tests are not done. With the absence of a good national database, deficiency of genetic services and absence of preventative alternatives for carrier couples, genetic counsellors find it difficult to advice pragmatic solutions to issues relating to genetic diseases. This paper reviews common genetic problems in the UAE with special emphasis on available genetic services and support to families with children with inherited disorders. Existing barriers to the improvement of clinical services by prenatal counselling are also discussed.


Asunto(s)
Enfermedades Genéticas Congénitas/genética , Genética de Población , Árabes , Anomalías Congénitas/genética , Fibrosis Quística/genética , Sordera/genética , Etnicidad/genética , Geografía , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Humanos , Errores Innatos del Metabolismo/genética , Enfermedades Neuromusculares/genética , Osteocondrodisplasias/genética , Emiratos Árabes Unidos , Talasemia alfa/genética , Talasemia beta/genética
7.
Birth Defects Res B Dev Reprod Toxicol ; 68(5): 428-38, 2003 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-14745993

RESUMEN

BACKGROUND: Virtually all antiepileptic drugs (AED) tested so far have been found to be teratogenic. The second generation AED possess a number of therapeutic advantages over the older ones. There are, however, very little data on their effects on embryonic development. A recent report suggests that lamotrigine (LTG) can be teratogenic to human fetuses. With only a few cases of prenatal exposure to LTG in the record, however, it has not been possible to establish a recognizable pattern of malformations in the infants of LTG-treated mothers. OBJECTIVES: The objectives of the present study were to evaluate the reproductive toxic effects of LTG . RESULTS: Single (50-200 mg/kg) or multiple doses (25, 50, 75 mg/kg) of LTG were administered by intraperitoneal (i.p.) injection (note that the therapeutic administration is oral) to groups of TO mice on gestation day (GD) 7 or 8. Fetuses were collected on GD 18. Maternal toxic effects including a dose-related mortality, a high incidence of abortion, embryo lethality, congenital malformations and intrauterine growth retardation (IUGR) were observed in the LTG-treated group. Administration of LTG in multiple low doses resulted in a better maternal survival and increased incidence of embryonic resorption and malformations with increasing dose; IUGR was significant but not dose-dependent. The malformations characteristic of the LTG multiple low dose group fetuses included maxillary-mandibular hypoplasia, exencephaly, cleft palate, median facial cleft, urogenital anomalies and varying degrees of caudal regression. Skeletal malformations and developmental delay of the skeleton were observed both in single and multiple dose groups. CONCLUSIONS: The results of this study indicate that LTG administered i.p. at high doses can induce intrauterine growth retardation and at low multiple doses causes a dose-dependent increase in embryonic resorption, craniofacial and caudal malformations as well as maternal toxicity in the mouse. Previous studies in other laboratories have used oral route of exposure and concluded that there are no teratogenic effects of LTG at dose levels that are not maternally toxic.


Asunto(s)
Reproducción/efectos de los fármacos , Triazinas/toxicidad , Anomalías Inducidas por Medicamentos/etiología , Animales , Anticonvulsivantes/administración & dosificación , Anticonvulsivantes/toxicidad , Relación Dosis-Respuesta a Droga , Desarrollo Embrionario y Fetal/efectos de los fármacos , Femenino , Retardo del Crecimiento Fetal/inducido químicamente , Lamotrigina , Ratones , Embarazo , Triazinas/administración & dosificación
8.
J Infect ; 45(1): 42-6, 2002 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12217731

RESUMEN

OBJECTIVE: To determine the maternal colonization rate with group B streptococcus (GBS) and to identify the most frequent GBS serotypes occurring in UAE women during labour. STUDY DESIGN: From February 1998 to January 1999, five hundred and sixty three pregnant women from a similar socio-economic and ethnic population were enrolled for the study. High vaginal swab cultures for GBS were obtained at the time of admission for delivery. Isolates were classified according to their capsular polysaccharide types (Ia, Ib, Ic, II-V) and c protein antigen compound. RESULTS: Fifty-seven (10.1%) of 563 mothers were found to be carriers of GBS. Among the isolates, serotype IV (26.3%) predominated followed by type Ia (21.0%), type III (17.6%), type V (12.3%) and nontypeable, which accounted for 15.8%. CONCLUSIONS: In view of the unknown status for GBS carrier rates in our community, this study suggests that about 10% of UAE women are colonized with group B streptococcus at delivery. The serotype distribution of the isolates in this population is different than those reported elsewhere with type IV predominating followed by type Ia and III.


Asunto(s)
Complicaciones Infecciosas del Embarazo/microbiología , Infecciones Estreptocócicas/microbiología , Streptococcus/clasificación , Streptococcus/aislamiento & purificación , Adulto , Portador Sano/epidemiología , Portador Sano/microbiología , Portador Sano/transmisión , Femenino , Humanos , Recién Nacido , Transmisión Vertical de Enfermedad Infecciosa , Trabajo de Parto , Parto , Embarazo , Complicaciones Infecciosas del Embarazo/epidemiología , Sepsis/microbiología , Sepsis/transmisión , Infecciones Estreptocócicas/epidemiología , Infecciones Estreptocócicas/transmisión , Emiratos Árabes Unidos/epidemiología
9.
Clin Biochem ; 34(5): 399-406, 2001 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-11522278

RESUMEN

OBJECTIVE: To determine whether the well-established filter paper spotted blood method used for the determination of some amino acids could be reliably used to measure all amino acids and whether amino acid results thus obtained are reproducible and comparable to the results obtained by measuring plasma amino acids in either capillary or venous blood. METHODS: This is a prospective study in which blood samples from a finger-prick were collected in capillary tubes and at the same time blotted on filter papers; another sample was taken from a vein, from 19 healthy volunteers aged between 18 and 24 yr after a strict 12-h overnight fast. Another 9 healthy adult volunteers provided blood samples on filter papers for the storage study; 9 samples were analyzed immediately; 9, 8 and 4 samples were stored at -20 degrees C, -4 degrees C and room temperature respectively and analyzed after 14 days; 8 samples stored at -20 degrees C were analyzed after 4 weeks. RESULTS: Intra-sample reproducibility in the filter paper blood from the same individual was found to be mostly less than 20%, while for the capillary blood was less than 5%. The greatest variability was in cystine and methionine. There was no significant difference between results obtained from capillary blood and from venous blood, but there was a significant difference between amino acid concentrations in venous and capillary blood on the one hand and filter paper blood on the other. Storage at different temperatures and for a varied period of time showed little change except in serine, glutamate, ornithine, histidine, cystine and methionine. There was a 30% decrease in concentrations of most amino acids in filter paper blood when compared to capillary or venous blood probably because of loss in the extraction process. CONCLUSION: A new set of values for amino acids in filter paper blood in normal individuals is presented. Blood spotted filter paper could be used to screen practically all inborn errors of amino acid metabolism.


Asunto(s)
Aminoácidos/sangre , Cromatografía por Intercambio Iónico/métodos , Adolescente , Adulto , Factores de Edad , Recolección de Muestras de Sangre/métodos , Capilares , Frío , Cistina/sangre , Ácido Glutámico/sangre , Histidina/sangre , Humanos , Metionina/sangre , Ornitina/sangre , Papel , Reproducibilidad de los Resultados , Serina/sangre , Temperatura , Venas
10.
Teratology ; 63(3): 127-33, 2001 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-11283969

RESUMEN

BACKGROUND: The mechanism of the teratogenicity of vigabatrin (VGB) is unknown. The objectives of this study were to determine the placental transfer of VGB and to evaluate the effect of VGB on maternal, placental, and fetal concentrations of amino acids. METHODS: A single dose of 400 mg/kg VGB in physiological saline was administered intraperitoneally to a group of Theiler outbred (TO) mice on gestational day (GD) 10. The controls received a proportionate volume of saline. Maternal blood samples, embryos, and placentas were collected at 3.5, 6.0, and 9.0 hr after treatment and their total amino acid concentrations determined in an ion-exchange amino acid analyzer. RESULTS: At 3.5 hr, there was a decrease in concentrations of some amino acids in the blood, placenta, and embryos of VGB-treated mice, but the decrease in methionine was most marked. gamma-aminobutyric acid (GABA) was significantly higher in the VGB group in both the embryos and the placentas at 3.5 hr but at 6.0 and 9.0 hr the differences were not significant. Vigabatrin levels were higher in the placenta than in the embryo at 3.5 hr, but at 6.0 hr there was an overlap of the VGB peak with that of tryptophan with very much lower levels than at 3.5 hr. At 9.0 hr, there was no vigabatrin peak in either the placenta or the embryo. CONCLUSIONS: Maternal exposure to VGB results in peak levels of the drug after 3.5 hr in the placenta and embryo. Methionine concentration is most severely affected in VGB-treated mothers, placentas, and fetuses. We speculate that this deficiency could be a possible mechanism for the teratogenic effects of vigabatrin.


Asunto(s)
Aminoácidos/metabolismo , Embrión de Mamíferos/metabolismo , Inhibidores Enzimáticos/toxicidad , Intercambio Materno-Fetal/efectos de los fármacos , Placenta/metabolismo , Preñez/efectos de los fármacos , Vigabatrin/toxicidad , 4-Aminobutirato Transaminasa/antagonistas & inhibidores , Animales , Inhibidores Enzimáticos/farmacocinética , Femenino , Masculino , Exposición Materna , Ratones , Embarazo , Preñez/sangre , Ratas , Ratas Sprague-Dawley , Vigabatrin/farmacocinética
11.
J Med Genet ; 36(8): 641-4, 1999 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-10465118

RESUMEN

Two sibs (one male and one female) suffering from a combination of immune complex glomerulonephritis and various ophthalmologic disorders are presented. The two cases belong to a family in which the parents are not related and seven sibs are affected, three females and a male with the combination, and three males with severe ophthalmological changes and proteinuria. Clinically, case 2 had only ophthalmological manifestations but renal biopsy findings were similar to those of case 1, which could mean that all the others with eye abnormalities also had renal disease. Although there are several reports of combinations of eye and renal disorders, the sibs reported here do not fit into any of the known syndromes.


Asunto(s)
Anomalías Múltiples , Oftalmopatías , Glomerulonefritis , Enfermedades del Complejo Inmune , Preescolar , Oftalmopatías/genética , Oftalmopatías/patología , Femenino , Genes Recesivos , Glomerulonefritis/genética , Glomerulonefritis/inmunología , Glomerulonefritis/patología , Humanos , Enfermedades del Complejo Inmune/genética , Enfermedades del Complejo Inmune/patología , Masculino , Linaje , Síndrome
12.
Clin Genet ; 55(2): 95-102, 1999 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-10189086

RESUMEN

Nine thousand six hundred and ten births were prospectively studied in the three major hospitals in Al-Ain, United Arab Emirates (UAE) between October 1995 and January 1997. Babies suspected of, or diagnosed, as having central nervous system (CNS) abnormalities were evaluated by a neonatologist, a clinical geneticist and a pediatric neurologist. Brain computerized tomography/magnetic resonance imaging (CT/MRI) was performed on all babies suspected of having CNS abnormalities. In addition, metabolic screening and chromosome analysis were also performed when indicated. Of the 225 babies with congenital anomalies identified, 31 had CNS abnormalities (3.2/1000). Syndromic abnormalities of the CNS were present in 13 cases (42%), chromosomal abnormalities in one case (3.2%) and the rest included: neural tube defect (NTD) in 11 cases (36%), holoprosencephaly in two cases (6.4%) and hydrocephalus in four cases (12.9%). Detailed analysis of the syndromic types revealed that out of the 13 cases, 12 were inherited as autosomal recessive (AR) and in one case the inheritance was undetermined. Consanguinity with high level of inbreeding was present in 12 cases and the majority of the syndromes identified were extremely rare. The study indicates that CNS anomalies are fairly common in the UAE, particularly, the recessive syndromic types. Careful and detailed analysis of such anomalies is required so that accurate genetic advice can be given.


Asunto(s)
Sistema Nervioso Central/anomalías , Consanguinidad , Sistema Nervioso Central/diagnóstico por imagen , Cerebelo/anomalías , Corteza Cerebral/anomalías , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Matrimonio , Divertículo Ileal/genética , Linaje , Estudios Prospectivos , Radiografía , Síndrome
13.
Clin Genet ; 55(1): 13-9, 1999 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-10066026

RESUMEN

The aims of this study were to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the United Arab Emirates (UAE), to describe the different mutations in the population, to determine its prevalence, and to study inheritance patterns in families of G6PD-deficient individuals. All infants born at Tawam Hospital, Al-Ain, UAE from January 1994 to September 1996 were screened at birth for their G6PD status. In addition, those attending well-baby clinics during the period were also screened for the disorder. Families of 40 known G6PD-deficient individuals, selected randomly from the records of three hospitals in the country, were assessed for G6PD deficiency. Where appropriate, this was followed by definition of G6PD mutations. Of 8198 infants, 746 (9.1%), comprising 15% of males and 5% of females tested, were found to be G6PD deficient. A total of 27 families were further assessed: of these, all but one family had the nt563 Mediterranean mutation. In one family, two individuals had the nt202 African mutation. The high manifestation of G6PD deficiency in women may be due to the preferential expression of the G6PD-deficient gene and X-inactivation of the normal gene, and/or to the presence of an 'enhancer' gene that makes the expression of the G6PD deficiency more likely. The high level of consanguinity which, theoretically, should result in a high proportion of homozygotes and consequently a higher proportion of females with the deficiency, was not found to be a significant factor.


Asunto(s)
Deficiencia de Glucosafosfato Deshidrogenasa/genética , Consanguinidad , Femenino , Pruebas Genéticas , Variación Genética , Genotipo , Glucosafosfato Deshidrogenasa/análisis , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Heterocigoto , Humanos , Recién Nacido , Masculino , Mutación , Linaje , Prevalencia , Emiratos Árabes Unidos/epidemiología
14.
Pediatr Neurol ; 16(3): 232-6, 1997 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-9165515

RESUMEN

The cranial magnetic resonance imaging findings in three siblings with nonrhizomelic chondrodysplasia punctata due to isolated dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency are reported. Areas of high signal intensity in a patchy distribution on the T2-weighted images were detected in the centrum semiovale in the eldest patient (a 6-year-old girl). The white matter of the second child (a 5-year-old boy) was spared, whereas the youngest sibling (a 2-year-old boy) manifested very severe white matter abnormalities. DHAP-AT catalyzes the first step in the synthesis of plasmalogens, which are major constituents of myelin. Defective plasmalogen synthesis may have contributed to abnormal myelin formation in 2 patients. Because the clinical presentation of the child without detectable defect in myelination was similar to that of his siblings, the neurologic signs observed in isolated DHAP-AT deficiency cannot be attributed solely to the disturbances in the myelin formation.


Asunto(s)
Aciltransferasas/deficiencia , Microcuerpos/enzimología , Vaina de Mielina/patología , Encéfalo/patología , Niño , Preescolar , Condrodisplasia Punctata/diagnóstico por imagen , Condrodisplasia Punctata/etiología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Radiografía
15.
Clin Genet ; 51(3): 167-73, 1997 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-9137881

RESUMEN

The aim of the study was to determine whether consanguineous marriages result in reproductive wastage and an increased incidence of illness in the offspring in a community with a long history of inbreeding and an expected high rate of consanguineous marriage. A representative sample of 2200 women aged > or = 15 years from Dubai and Al Ain, two cities in the United Arab Emirates, representing on the one hand a modern metropolis and on the other a traditional society, were studied. A questionnaire, which included questions on age, parity, gravidity, number of stillbirths, number of abortions, number of children alive, neonatal deaths and specific illnesses in children, was administered by nurses in antenatal and gynaecological clinics in the two cities. The rate of consanguineous marriage was 50.5% and parity, gravidity, ages and number of children were similar in consanguineous and non-consanguineous groups. There was no significant difference in rates of abortion, stillbirth and neonatal death between the two groups. Overall, there was statistically significant higher reproductive wastage in consanguineous couples, but when the category of less than second cousins was excluded from the consanguineous group no difference was found in reproductive wastage between consanguineous and non-consanguineous marriages. Children born to consanguineous unions also had significantly higher incidences of illnesses (37.1%) than those of non-consanguineous unions (29%). The occurrence of malignancies, congenital abnormalities, mental retardation and physical handicap was significantly higher in offspring of consanguineous than non-consanguineous marriages. In conclusion, consanguinity did not result in reproductive wastage, but was found to be an important factor in the causation of specific illnesses in offspring.


Asunto(s)
Consanguinidad , Enfermedades Genéticas Congénitas/epidemiología , Aborto Espontáneo/epidemiología , Adulto , Susceptibilidad a Enfermedades , Femenino , Muerte Fetal/epidemiología , Humanos , Persona de Mediana Edad , Embarazo , Emiratos Árabes Unidos/epidemiología
16.
Teratology ; 55(3): 165-76, 1997 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-9181670

RESUMEN

Vigabatrin (VGB) is a relatively recently introduced antiepileptic drug that enhances the brain levels of gamma aminobutyric acid (GABA). Few data on its teratogenic effects appear to have been reported. Our objective was to determine if VGB was teratogenic in the TO mouse. Single doses of 300-600 mg/kg of VGB dissolved in saline were administered intraperitoneally (IP) to groups of TO mice on one of gestation days (GD) 7-12. The controls were saline treated or untreated. No maternal toxic effects were observed in the 300 or 450 mg/kg groups, and the 600 mg/kg dose was totally lethal to the mothers. Fetuses were collected on GD 18. Both 300 and 450 mg/kg doses induced a consistently significant intrauterine growth retardation irrespective of the developmental stage at administration. VGB did not augment the spontaneous incidence of neural tube defects characteristic of this strain, but accelerated destruction of the brain in spontaneous exencephalic embryos. Mandibular and maxillary hypoplasia, arched palate, cleft palate (two cases), limb defects (one case), and exomphalos were observed in the malformed fetuses. The high incidence of exomphalos appears to be a unique result of VGB treatment. Alizarin red-S/alcian blue-stained, skeletons revealed hypoplasia of mid facial bones, stage-dependent increase in the frequency of cervical and lumbar ribs, rib fusion, and sternal and vertebral malformations in the drug-treated fetuses. Middle and distal phalanges of the forepaw and mid phalanges and tarsals of the hindpaw failed to ossify in a significant number of experimental fetuses. Homeotic shift in terms of presacral vertebral number and a high incidence of lumbar and cervical ribs in the treated group are suggestive of treatment-related alterations in gene expression. In view of the paucity of human and animal data on the reproductive toxicologic effects of VGB, the results of the present study assume particular importance and suggest that VGB should be used in pregnancy with extreme caution.


Asunto(s)
Anomalías Inducidas por Medicamentos , Anticonvulsivantes/toxicidad , Huesos/anomalías , Teratógenos , Ácido gamma-Aminobutírico/análogos & derivados , Animales , Huesos/efectos de los fármacos , Pérdida del Embrión/inducido químicamente , Retardo del Crecimiento Fetal/inducido químicamente , Reabsorción del Feto/inducido químicamente , Deformidades Congénitas de las Extremidades , Ratones , Defectos del Tubo Neural/inducido químicamente , Costillas/anomalías , Cráneo/anomalías , Columna Vertebral/anomalías , Esternón/anomalías , Vigabatrin , Ácido gamma-Aminobutírico/toxicidad
17.
J Biosoc Sci ; 29(4): 491-7, 1997 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-9881148

RESUMEN

This study examines the frequency of consanguineous marriage and the coefficient of inbreeding in the United Arab Emirates (UAE). The study was conducted in Al Ain and Dubai cities between October 1994 and March 1995. A sample of 2033 married UAE females aged 15 years and over participated. The degree of consanguinity between each female and her spouse, and the degree of consanguinity between their parents were recorded. The rate of consanguinity in the present generation was high (50.5%) with a coefficient of inbreeding of 0.0222. The commonest type of consanguineous marriage was between first cousins (26.2%). Double first cousin marriages were common (3.5%) compared to other populations. The consanguinity rate in the UAE has increased from 39% to 50.5% in one generation. The level of consanguinity was higher in Al Ain (54.2%) than in Dubai (40%).


PIP: This study determines the extent of consanguinity within marriage among an urban population in the United Arab Emirates (UAE). Data were obtained during 1994-95 from interviews collected among a sample of 2200 married females over 15 years old from the cities of Al Ain and Dubai in the UAE. The sample was drawn with multistage sampling techniques from prenatal and gynecology clinics in Dubai and immunization centers in Al Ain. Marriages were grouped as: 1) double first cousin, 2) first cousin, 3) first cousin once removed, 4) second cousin, 5) less than first cousin, and 6) nonconsanguineous marriages. First cousin marriages were subgrouped as paternal and maternal types I and II (parallel cousins), and cross-cousin types III and IV. The median age of the sample was 25 years. 50.5% of the sample population had consanguineous marriages. The average coefficient of inbreeding (up to second cousin) was 0.0222. 26.2% of consanguineous marriages were first cousin marriages. 17% of total marriages were Type I, and 64.4% of first cousin marriages were Type I. 2.2% of all marriages were Type II, 3.2% were Type III, and 3.8% were Type IV. 3.5% were double first cousin marriages. 54.2% of marriages in Al Ain and 39.9% of marriages in Dubai were consanguineous. Al Ain had more double first cousin marriages (4.5% versus 0.56%). Dubai had more second cousin marriages (6.7% versus 1.6%). 28.2% were first cousin marriages in Al Ain, and 20.7% were first cousin marriages in Dubai. Type I was the most prevalent type of first cousin marriage in both cities, followed by Types IV, III, and II. The consanguinity rate was higher in the current generation than the parent generation (50.5% versus 39%), as was the coefficient of inbreeding (0.023 versus 0.0158). The increase in consanguinity was higher in Dubai. Consanguinity was higher in UAE than in Egypt, Syria, Lebanon, but about the same as in Jordan, Saudi Arabia, and Kuwait.


Asunto(s)
Consanguinidad , Matrimonio/etnología , Matrimonio/estadística & datos numéricos , Adulto , Femenino , Humanos , Masculino , Encuestas y Cuestionarios , Emiratos Árabes Unidos , Población Urbana
18.
Hum Hered ; 46(5): 256-64, 1996.
Artículo en Inglés | MEDLINE | ID: mdl-8854141

RESUMEN

The aim of this study was to explore the association between socio-demographic factors and consanguineous marriages in the United Arab Emirates (UAE). This was a cross-sectional population-based study conducted in the cities of Al Ain and Dubai between October 1994 and March 1995. A multi-stage sampling design was used and a representative total sample of 2,200 UAE females aged 15 years and above were included in this study. Data on 2,033 (85.8%) UAE national families who consented to participate in the study were obtained. The rate of consanguineous marriages in the sample was found to be 50.5% with 95% estimated population confidence limits 49.2-51.8%. The socio-demographic factors considered were: husband's age, wife's age, husband's and wife's educational levels, husband's occupation, wife's occupation, housing conditions, husband's parental kinship, wife's parental kinship, and kinship between the spouses. Consanguinity is more common among women with educated husbands (secondary or university/high) than among women with less educated husbands. The results indicate that the frequency of consanguineous marriages significantly increases when the husband's educational level is higher (p = 0.003). The distribution of relationship between spouses over the two generations of the study group and their parents is presented. The incidence of consanguineous marriages among the parents is 53% and 62% for the women and their husbands, respectively, and the overall incidence is 57%. The parallel patrilateral marriage is obviously the favoured practice when considering the parent's kinship distributions. The results of step-wise multiple logistic regression analysis for the occurrence of consanguineous marriages show that the husband's education and husband's parent's consanguinity status only are significantly associated variables.


Asunto(s)
Consanguinidad , Adulto , Escolaridad , Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores Socioeconómicos , Emiratos Árabes Unidos
19.
J Biosoc Sci ; 28(3): 339-46, 1996 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-8698713

RESUMEN

This case-control study was undertaken to determine sociodemographic risk factors for low birth weight in Al-Ain (United Arab Emirates) over a 12-month period in 1992-93. A total of 3485 live births occurred of which 293 (8.4%) were low birth weight. The risk factors considered were mother's occupation, house conditions, place of residence (urban or rural), maternal smoking habits, antenatal care, availability of help in the home, maternal BMI and educational status. Multiple logistic regression analysis showed that mother's occupation, maternal smoking, antenatal care, and lack of help in the home were associated with increased risk of low birth weight.


PIP: Low birth weight is an important risk factor for neonatal mortality and morbidity during the post-neonatal period. The authors report their findings from a case-control study conducted to identify the sociodemographic risk factors for low birth weight in Al-Ain City, United Arab Emirates, between January 15, 1992, and January 14, 1993. 293 of the 3485 live births over the period were of low birth weight. Risk factors considered were mother's occupation, house conditions, place of residence, maternal smoking habits, antenatal care, availability of help in the home, maternal body mass index, and educational status. Multiple logistic regression analysis found mother's occupation, maternal smoking, antenatal care, and lack of help in the home to be associated with an increased risk of low birth weight.


Asunto(s)
Recién Nacido de Bajo Peso , Factores Socioeconómicos , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Incidencia , Recién Nacido , Modelos Logísticos , Masculino , Factores de Riesgo , Emiratos Árabes Unidos/epidemiología
20.
Hum Biol ; 68(3): 405-14, 1996 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-8935321

RESUMEN

We investigate the familial and environmental risk factors associated with asthma among United Arab Emirates schoolchildren aged 6-14 years. A cross-sectional study of 850 schoolchildren living in both urban and rural areas (average age 9.36 +/- 2.11 years; 46.8% boys, 53.2% girls) was conducted using self-administered questionnaires between October 1992 and May 1993. The population sample had a high prevalence rate of diagnosed asthma (13.6%) and allergic rhinitis (22.9%). The frequency of asthma, allergic rhinitis, and eczema among parents and siblings reflected the same pattern as that seen in the children. Environmental risk factors associated with asthma were pets, medicine, plants, dust storm, physical exercise, humidity, and perfume. All other factors, such as foods, climate, and parental smoking, showed no apparent relation to the development of asthma. The logistic regression analysis showed that parental asthma, plants, perfume, dust storm, humidity, and pets were the only significant predictors after adjusting for sex and other confounding covariates in the model. In conclusion, risk factors for asthma identified by our study are similar to those found in other community-based studies. Consistencies and discrepancies between our findings and those from other studies with respect to asthma risk factors support the hypothesis that asthma is a multifactorial disease related to both familial and environmental influences.


Asunto(s)
Asma/etiología , Asma/genética , Contaminación Ambiental/efectos adversos , Adolescente , Distribución por Edad , Asma/epidemiología , Asma/fisiopatología , Niño , Estudios Transversales , Recolección de Datos , Femenino , Humanos , Incidencia , Modelos Logísticos , Masculino , Factores de Riesgo , Distribución por Sexo , Emiratos Árabes Unidos/epidemiología
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