Deaths of children aged under 5 years and related factors in the Islamic Republic of Iran: a population-based case-control study

The study was conducted to determine the family, social and economic factors associated with deaths of children aged under 5 years. A registry-based nested case-control study was conducted of the deaths of all children aged under 5 years in Kohgilooyeh and Boyer-Ahmad Province in the Islamic Republic of Iran. For each death, two controls were randomly selected among children of the same age, sex and place of residence [186 cases and 372 controls]. Congenital abnormality [37.6%] and preterm birth [29.0%] were the two most frequent causes of death among children aged under 5 years. No vaccine-preventable disease was reported as the cause of death. The strongest associations were found with consanguinity of the parents [OR = 3.92; 95% CI = 2.27-6.85 for being first cousins in comparison with no family relation; P < 0.001] and with domestic violence to the mother during pregnancy [OR = 3.13; 95% CI = 1.60-6.17; P < 0.01]. The main causes of death of children aged under 5 years in the Province were congenital abnormality and prematurity

La présente étude a été menée pour déterminer les facteurs familiaux, sociaux et économiques associés aux décès des enfants de moins de cinq ans. Une étude cas-témoin nichée reposant sur les données de registres a été menée sur les décès de tous les enfants de moins de cinq ans dans la province de Kohgilooyeh et Boyer-Ahmad en République islamique d'Iran. Pour chaque décès, deux témoins étaient sélectionnés de façon aléatoire parmi les enfants du même âge, sexe et lieu de résidence [186 cas et 872 témoins]. Les malformations congénitales?[37,6%] et les naissances prématurées [29,0%] constituaient les deux causes de décès les plus fréquentes parmi les enfants de moins de cinq ans. Aucune maladie à prévention vaccinale n'a été rapportée comme cause de décès. Les associations les plus fortes étaient liées à la consanguinité des parents [OR = 3,92 ; IC à 95% = 2,27-6,85 pour les cousins de premier degré en comparaison avec les sujets n'ayant aucun lien de parenté ; p < 0,001] et à la violence conjugale envers les mères pendant la grossesse [OR = 3,13 ; IC à 95% = 1,60-6,17 ; p < 0,01]. Les principales causes de décès des enfants de moins de cinq ans dans la province étaient les malformations congénitales et la prématurité

Autoimmune polyendocrine syndrome type 1: case report and review of literature / Síndrome poliglandular autoimune tipo 1: descrição de caso e revisão da literatura

Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome.

Síndrome poliglandular autoimune tipo 1 é uma rara desordem autossômica recessiva caracterizada por ataque autoimune a diversos órgãos. A doença é causada por mutações no gene AIRE (autoimmune regulator), resultando em uma proteína AIRE defeituosa, proteína esta essencial para a manutenção da autotolerância. As manifestações clínicas são extremamente variáveis. A tríade clássica é composta por candidíase mucocutânea crônica, hipoparatiroidismo e insuficiência adrenal, porém diversos outros componentes podem estar presentes. A base do tratamento é a reposição das diversas deficiências, e os pacientes devem ser acompanhados por toda a vida. Este artigo descreve o caso de uma paciente com a síndrome e apresenta uma revisão sobre a epidemiologia, quadro clínico, aspectos imunogenéticos, diagnóstico e tratamento da desordem, de acordo com a literatura publicada.

Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, Brazil

This hospital-based, case-control study investigated the possible associations between family history of malformations, parental consanguinity,smoking and alcohol drinking and nonsyndromic orofacial cleft (OC, subdivided in 2 main groups: CL/P - cleft lip with or without cleft palate and CP - cleft palate alone). 274 cases were matched (age, sex and place of residence) to 548 controls. Odds ratios (OR) and 95% confi dence intervals (95% CI) – adjusted for maternal age, schooling and smoking / alcohol use – were calculated by conditional logistic regression. The results demonstrated that the history of oral clefts either in thefather's (CL/P: OR = 16.00, 5.64- 9.23; CP: OR = 6.64, 1.48-33.75) or in the mother's family (CL/P: OR = 5.00, 2.31-10.99, CP: OR = 12.44, 1.33-294.87) was strongly associated with both types of clefts, but parental consanguinity was associated only with CL/P (OR = 3.8, 1.27-12.18). Prevalence of maternal smoking during the fi rst trimester of pregnancy was higher among cases but the OR (1.13, 0.81-1.57) was not statistically signifi cant. Maternal passive smoking (nonsmoking mothers) during pregnancy was associated with CL/P (1.39, 1.01-1.98) but not with CP.Maternal alcohol use during the 1st trimester increased odds for CL/P (OR = 2.08, 1.27-3.41) and CP (OR = 2.89, 1.25-8.30), and odds for OC tended to increase with dose. Neither smoking nor alcohol use by fathers increased risks for OC. This study provides further evidence of a possible role of maternal exposure to tobacco smoke and alcohol in the etiology of nonsyndromic oral clefts.

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran

This study recorded the rate of congenital malformations in 10000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% [1.19% in males and 0.76% in females]. Anomalies of the musculoskeletal system had the highest incidence [0.38%], followed by central nervous system [0.28%] and genitourinary system [0.25%]. The incidence of congenital malformations in different ethnic groups was 0.85%, 1.45% and 1.70% in native Fars, Turkman and Sistani groups respectively. Sex and ethnic background are factors in the rate of congenital malformations in this area

Study of mortality risk factors for children under age 5 in Abu Dhabi

We investigated the association of biological, sociocultural and economic risk factors with child mortality in Abu Dhabi from 1 January-31 December 1997. With McNemar chi-squared test, most selected biological risk factors were statistically associated with child mortality, although maternal age older than 40 years and history of fetal death were not positively correlated with neonate, infant or age under 5 mortality. Among sociocultural and economic risk factors, maternal lack of formal education and low monthly income were significantly associated with child death. Consanguinity was significantly associated with under 5 and infant but not neonatal mortality. Gestation <37 weeks was highly associated with mortality among all ages. Strengthening health care programmes and emphasizing the need to identify high risk groups should be priorities

Análisis descriptivo de enfermos y familias de esquizofrenicos ligados por lazos de primer orden de consaguinidad / Descriptive analysis of schizophrenic patients and their families, linked by first degree consanguinity

Se muestran los antecedentes de 47 pacientes esquizofrénicos pertenecientes a 22 diferentes familias. El común denominador de estas familias es tener entre sus componentes a lo menos 2 personas con lazos de primer orden de consanguinidad portadores de esquizofrenia. Las relaciones de consaguinidad se agruparon en: Hermanos entre sí - Progenitor/hijo - Progenitor/hijo/hermanos. El vínculo de consaguinidad más importante en número esta dado por la presencia de Hermano entre sí, presente en 13 de las 22 familias (59,1 por ciento) y en 31 de los 47 enfermos (65,9 por ciento). Se destaca en estos pacientes el rasgo paranoide de la enfermedad esquizofrénica, con evolución crónica, defecto continuo, mayor número de hospitalizaciones y edad más tardia para establecimiento del diagnóstico

Los canarios de San Antonio de Los Altos, Edo. Miranda, Venezuela. Aislamiento y uniones matrimoniales entre los años 1900 a 1981 / The Canarians of San Antonio de Los Altos, Edo, Miranda, Venezuela. isolation and marriages unions between 1900 and 1981

We present results of a study on isolation and endogamy in San Antonio de Los Altos a Venezuelan town founded in 1683 by 41 Spanish families of Canarian origin. The study was done with the civil marital records registered during the years 1905 to 1981. The results show that the same few surnames cover an important proportion of individuals in all the periods studied, which suggests that these belong to the traditional families. An important endogamy is revealed through the frequencies of surnames, birth places of spouses, and the isonymy analysis, which decrease after 1960 with the rupture of the isolate. The higher Fn values and the predominance of some types of isonymy suggests the existence of preferential unions. Geographic isolation and some economic factors, such as the property of the land, could have favoured the isonymy and endogamy observed among surnames of the founders of the town

Valongo, an isolated braziliann black community. I. Structure of the population

Estudamos uma comunidade brasileira isolada no Sul do Brasil de origem predominantemente negra, com uma populaçäo total de 81 indivíduos. O coeficiente médio de endocruzamento é igual a 0.04774, um valor que é ainda 3,5 vezes menor do que o teoricamente esperado (0,17269) se os casamentos consanguíneos ocorressem ao acaso. O coeficiente médio de endocruzamento entre os descendentes de casais consanguíneos é também muito alto, 0,06906. A freqüência de abortos é de 11,2% ñ 3,2%; a mortalidade infantil de 9,0% ñ 3,0% e os nascimentos gemelares de 2,0% ñ 1,4%. Os pequenos tamanhos das populaçöes reprodutora (28) e efetiva (15), assim como a pequena taxa de migraçäo da populaçäo reprodutora (7,1%) sugerem uma alta probabilidade para a ocorrência da deriva genética nesta populaçäo

Degeneraçäo hepato-lenticular (doença de Wilson): quatro casos entre irmäos / Hepatolenticular degeneration (Wilson's disease): 4 cases among siblings

Säo relatados quatro casos de doença de Wilson entre irmäos com comprometimento hepático grave