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Rev. cuba. pediatr ; 91(1): e441, ene.-mar. 2019. tab, graf
Artigo em Espanhol | LILACS (Américas) | ID: biblio-985592


Introducción: Existen pocas investigaciones sobre factores de riesgo de tumores renales pediátricos. Objetivo: Caracterizar en detalle regiones geográficas de alta incidencia de tumores renales pediátricos en el centro de Argentina y su posible vinculación con factores de riesgo genéticos. Métodos: El área de estudio comprendió la provincia de Córdoba (Argentina). Se generó una base de datos de incidencia del cáncer renal infantil con información del Registro Provincial de Tumores. Se realizaron análisis de conglomerados espaciotemporales. En localidades dentro de los conglomerados, se llevaron a cabo entrevistas en profundidad a informantes claves. Resultados: Se registraron 56 casos de tumores renales pediátricos en el Registro en el periodo 2004-2013. Se detectó un conglomerado espacial significativo que abarca siete departamentos de la provincia. En esa región se concretaron seis entrevistas en profundidad a informantes claves. Los entrevistados resaltaron la mayor frecuencia de enfermedad genética de Sandhoff y las prácticas de endogamia (corroboradas en numerosos resultados científicos). A partir de estos datos se determinaron zonas de superposición de tumores renales y de la enfermedad de Sandhoff. Conclusiones: Se detectó una región particular de la provincia con alta frecuencia de tumores renales pediátricos y de la enfermedad de Sandhoff. Numerosos estudios científicos determinan que la endogamia es el factor de riesgo que aumenta la frecuencia de esta enfermedad en esta región. En futuras investigaciones se deberá corroborar si la endogamia también actúa aumentando la incidencia de tumores renales infantiles(AU)

Introduction: There is little research on risk factors of pediatric renal tumors. Objective: To characterize in detail the geographic regions of greatest incidence of pediatric renal tumors in central Argentina and exploring their possible link to genetic risk factors. Methods: The study area comprised the province of Córdoba (Argentina), and a database of pediatric renal tumors incidence was generated with information from the Provincial Tumor Registry. Analyses of spatio-temporal clusters were performed. In-depth interviews with key informants were carried out at localities within the conglomerates. Results: 56 cases of pediatric renal tumors were registered in the Provincial Registry of Tumors between 2004 and 2013. A significant spatial conglomerate was detected, covering seven districts of the province. In that region, six in-depth interviews were conducted with key informants. Interviewees highlighted the increased frequency of Sandhoff genetic disease and endogamous practices (corroborated in numerous scientific results). From these data, zones of overlap of renal tumors and of Sandhoff disease were determined. Conclusions: A particular region of the province was detected with high frequency of pediatric renal tumors and Sandhoff disease. Numerous scientific studies have determined that endogamy is the risk factor that increases the frequency of Sandhoff disease in this region. In future research, it should be confirmed whether it also acts by increasing the incidence of renal tumors in children(AU)

Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Consanguinidade , Predisposição Genética para Doença/etiologia , Neoplasias Renais/complicações , Neoplasias Renais/epidemiologia , Argentina , Conglomerados Espaço-Temporais , Neoplasias Renais/genética
Pesqui. bras. odontopediatria clín. integr ; 19(1): 4401, 01 Fevereiro 2019. map, tab, graf
Artigo em Inglês | LILACS (Américas), BBO | ID: biblio-998036


Objective: To determine the coefficient of inbreeding of consanguinity (F) and its correlates in Aligarh city, India. Material and Methods: Cross sectional household survey with a sample size of 2000 (1600 non-consanguineous and 400 consanguineous couples) using systematic random sampling. Researcher conducted the study by visiting every tenth household of every tenth ward of Aligarh city. Information was recorded on a pre-tested questionnaire, which had questions pertaining to religion, details regarding relationship between couples (consanguineous / non consanguineous marriage), type of consanguinity (first cousin/second cousin/third cousin), level of education and occupation (a proxy for socioeconomic status). Descriptive statistics, Chi-square, and multivariate logistic regression were used. Results: Multivariate logistic regression analysis showed that Islam (p<0.001) and Christianity (p<0.001) were significantly associated with consanguinity. Private employment with (-) B value (p<0.001) showed a significant association of the variable with non-consanguineous group. Coefficient of inbreeding for the present study was 0.0538, highest reported from any part of India. Conclusion: Consanguinity is a prevailing problem in Aligarh city, India. Evidence based guidelines needed. Information ­ education ­ communication and pre-marital counseling suggested to make population aware of the consequences of consanguinity and to help couples make a decision.

Humanos , Masculino , Feminino , Casamento , Estudos Transversais/métodos , Cristianismo/história , Consanguinidade , Islamismo , Distribuição de Qui-Quadrado , Prevalência , Análise Multivariada , Inquéritos e Questionários
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776768


OBJECTIVE@#To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.@*METHODS@#Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.@*RESULTS@#A homozygous missense variation (c.56C>G, p.Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c.56C>G variation to be pathogenic.@*CONCLUSION@#Homozygous c.56C>G variation of the PARK7 gene was the disease-causing variation in this family.

Consanguinidade , Homozigoto , Humanos , Mutação de Sentido Incorreto , Doença de Parkinson , Genética , Linhagem , Proteína Desglicase DJ-1 , Genética
Braz. oral res. (Online) ; 32: e24, 2018. tab
Artigo em Inglês | LILACS (Américas) | ID: biblio-889479


Abstract: Considering that environmental risk factors substantially contribute to the etiology of orofacial clefts and that knowledge about the characteristics and comorbidities associated with oral clefts is fundamental to promoting better quality of life, this study aimed to describe the risk factors, main characteristics, and comorbidities of a group of patients with cleft lip and/or cleft palate (CL/P) from Rio Grande do Norte (RN), Brazil. Data were obtained from 173 patients with CL/P using a form from the Brazilian database on Orofacial Clefts. Most patients were male with cleft lip and palate and had a normal size and weight at birth; presented few neonatal intercurrent events; and had anemia and respiratory and cardiovascular diseases as main associated comorbidities. They also required timely surgical rehabilitation and multidisciplinary care to stimulate their neuropsychomotor development. In addition, a high frequency of familial recurrence and of parental consanguinity was evidenced in the studied population, especially for the cleft lip and cleft palate type. Other relevant findings were the considerable maternal exposure to alcohol, infections, smoking, and hypertension, as well as low supplementation with vitamins and minerals and deliberate consumption of analgesics, antibiotics, and antihypertensives during pregnancy. Characterization of the CL/P patient profile is essential for the planning of health services and integration among the health professionals involved in the diagnosis and treatment of these malformations. Our results reinforce the need for additional research to confirm the association between environmental factors and the development of orofacial clefts.

Humanos , Masculino , Feminino , Gravidez , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Adulto Jovem , Fenda Labial/epidemiologia , Fenda Labial/etiologia , Fissura Palatina/epidemiologia , Fissura Palatina/etiologia , Brasil/epidemiologia , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Comorbidade , Consanguinidade , Idade Materna , Exposição Materna , Prevalência , Medição de Risco , Fatores de Risco , Fatores Sexuais , Fumar/efeitos adversos
EMHJ-Eastern Mediterranean Health Journal. 2018; 24 (7): 631-636
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-199146


Background: Red reflex screening is the primary but unheeded test for the detection of vision- and life-threatening eye conditions.

Aims: To evaluate the red reflex of newborns, percentage of ocular diseases resulting in red reflex abnormality, and their relation with consanguinity in Southeast Turkey.

Methods: Newborns [n = 1358] were examined with pencil light and direct ophthalmoscopy.

Results: Eight hundred of these newborns were hospitalized in a rooming-in unit. [RIU] and 558 were in the neonatal intensive care service [NICS]. In the RIU there were 7 [0.88%] newborns with abnormal red reflex and in the NICS there were 14 [2.51%]. Sensitivity of pencil light examination was 71.4%. Studies from the Middle East have shown potential recessive genetic causes of common paediatric ocular conditions. In our study, consanguineous marriage was found to have a significant association with red reflex abnormality [P = 0.017].

Conclusions: Red reflex screening test is important in the early diagnosis of vision- and life-threatening eye disorders in Southeast Turkey where consanguinity is common

Humanos , Recém-Nascido , Consanguinidade , Terapia Intensiva Neonatal , Recém-Nascido , Estudos Prospectivos , Catarata/congênito , Hospitalização
Oman Medical Journal. 2017; 32 (1): 66-68
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-185728


Mutations in the C19 or f12 gene are known to cause mitochondrial membrane protein associated neurodegeneration [MPAN], which is a neurodegeneration with brain iron accumulation [NBIA] type 4 disorder. To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from Oman. A novel homozygous deletion of exon 2 of the C19 or f12 gene was confirmed on the proband, a seven-year old girl, who presented with gait instability. Brain magnetic resonance imaging showed iron deposition on the basal ganglia. This report highlights the importance of genetic testing of such a clinically and genetically heterogeneous condition among a population with a high consanguinity rate. To overcome the diagnostic difficulty, implementation of a cost-effective approach to perform cascade screening of carriers at risk is needed as well as programs to address risky consanguineous marriages

Criança , Feminino , Humanos , Encéfalo/patologia , Proteínas Mitocondriais/genética , Consanguinidade , Deleção de Sequência
IBJ-Iranian Biomedical Journal. 2017; 21 (5): 338-341
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-188491


Background: Osteogenesis imperfecta [Ol] is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of Ol

Methods: Molecular genetic analyses were performed for COLlAl, COL1A2, and CRTAP genes in an Iranian family with Ol. The DNA samples were analyzed by next-generation sequencing [NGS] gene panel and Sanger sequencing

Results: Five different variants were identified in COLlAl and COL1A2, including two variants in COLlAl and three variants in COL1A2. Among the five causative COLlAl and COL1A2 variants, one novel variants, c.1081 G>A, was found in COL1A2, which was identified in two siblings

Conclusion: Our finding extends the variant spectrum of the COL1A2 gene and has important implications for genetic counseling of families. The NGS is a powerful molecular diagnostic strategy for Ol, a heterogeneous disorder

Humanos , Colágeno Tipo I , Mutação de Sentido Incorreto , Irmãos , Aconselhamento Genético , Análise de Sequência , Consanguinidade
EMHJ-Eastern Mediterranean Health Journal. 2016; 22 (6): 368-374
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-181490


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

Humanos , Feminino , Masculino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Mortalidade Prematura , Anormalidades Congênitas/epidemiologia , Consanguinidade , Estudos de Casos e Controles
Journal of Taibah University Medical Sciences. 2016; 11 (3): 203-210
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-180219


Objectives: Localized autosomal recessive hypotrichosis is a non-syndromic human hair loss disorder, affecting scalp, eyebrows and eyelashes, and other parts of the body. Six consanguineous families with this form of hair loss disorder were investigated at both the clinical and molecular levels

Methods: Linkage in six families with twenty-one affected members was tested by genotyping microsatellite markers linked to autosomal recessive hypotrichosis loci including localized autosomal recessive hypotrichosis [LAH] 1, 2 and 3. Sequence analysis of the entire coding and splice sites of the gene DSG4 was performed to search for the disease-causing mutation

Results: Genotyping established linkage in families to the DSG4 gene at LAH1 locus on chromosome 18q21.1. Sequence analysis detected an intragenic deletion mutation [Ex5_8 del] in affected members of all six families

Conclusion: Identification of recurrent mutation in six additional Pakistani families strengthens the body of evidence that this is an ancestral mutation that is widespread among different Pakistani ethnic groups

Humanos , Deleção de Sequência , Estudos de Associação Genética , Desmogleínas/genética , Consanguinidade
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-55648


Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.

Alopecia , Encéfalo , Consanguinidade , Diabetes Mellitus , Diagnóstico , Distonia , Humanos , Hipogonadismo , Deficiência Intelectual , Ferro , Transtornos dos Movimentos , Doenças Neurodegenerativas , Fenótipo , Irmãos
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-247687


<p><b>OBJECTIVE</b>To identify potential mutation underlying coagulation factor X (FX) deficiency in a consanguineous Chinese pedigree.</p><p><b>METHODS</b>Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FX activity (FX:C) and other coagulant parameters were determined with a one-stage clotting assay. The FX antigen (FX:Ag) was determined with an ELISA assay. All coding exons and exon-intron boundaries of the F10 gene were amplified with PCR and subjected to direct sequencing. Suspected mutation was confirmed by reverse sequencing and analyzed with CLC Genomics Workbench 7.5 software.</p><p><b>RESULTS</b>The PT and APTT in the proband were prolonged to 67.2 s and 102.9 s, respectively. Further study showed that her FX:C and FX:Ag were reduced by 1% and 8%, respectively. The PT of her father, mother, and little brother were slightly prolonged to 14.5 s, 14.4 s and 14.4 s, respectively. The FX:C and FX:Ag in her father, mother and little brother were all slightly reduced. Genetic analysis of the proband has revealed a homozygous G>A change at nucleotide 27881 in exon 8 of the F10 gene, which predicted a p.Val298Met substitution. The proband's father, mother, and little brother were all heterozygous for the p.Val298Met mutation. The proband has inherited the homozygous mutation from her parents by consanguineous marriage. Other family members were all normal. Bioinformatics analysis has indicated that this mutation may result in changes in the secondary structure of the FX protein.</p><p><b>CONCLUSION</b>A homozygous mutation g.27881G>A(p.Val298Met) of the F10 gene has been identified, which probably accounts for the low FX concentrations in this pedigree.</p>

Adulto , Sequência de Aminoácidos , Consanguinidade , Fator X , Genética , Deficiência do Fator X , Genética , Feminino , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Tempo de Protrombina
Colomb. med ; 46(4): 194-198, Oct.-Dec. 2015. ilus
Artigo em Inglês | LILACS (Américas) | ID: lil-774953


Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Antecedentes: Las mutaciones del gen GDAP1 son causantes de la enfermedad de Charcot Marie Tooth tanto autosómica dominante como recesiva, y se han reportado más de 40 mutaciones distintas. La mutación recesiva Q163X ha sido descrita en pacientes de ascendencia española y se ha demostrado una mutación fundadora originaria de España en pacientes de origen suramericano. Describimos las características físicas e histológicas y el impacto molecular de la mutación Q163X en una familia colombiana. Objetivo: Se describe el impacto de la mutación Q163X en las características físicas, histológicas y moleculares en una familia colombiana. Métodos: Se describe dos pacientes de sexo femenino, hijas de padres consanguíneos, quienes presentaron inicio de síntomas en los dos primeros años de vida, mostrando deterioro funcional severo, sin evidencia de dismorfía, disfonía o parálisis diafragmática. Los estudios de electrofisiología mostraron una neuropatía sensitiva y motora con patrón axonal. Se solicitó la secuenciación del gen GDAP1, y el estudio identificó una mutación homocigota puntual (c. 487 C>T) en el exón 4, causando un codón de parada prematuro (p. Q163X). Este resultado confirma el diagnóstico de Enfermedad de Charcot Marie Tooth, tipo 4A (recesiva, tipo axonal). Resultados: Las pacientes fueron remitidas al servicio de Fisiatría para evaluación de métodos de asistencia para deambulación. Ellas reciben seguimiento por el servicio de Neumología, quienes vigilan la función pulmonar y el desarrollo de parálisis diafragmática. Se brindó asesoramiento genético. La genealogía del paciente, las características fenotípicas y los hallazgos en los estudios electrofisiológicos son herramientas valiosas en el enfoque clínico del paciente con CMT, de forma que se pueda plantear una posible mutación causal. Se debe considerar la presencia de mutaciones en el gen GDAP1 en pacientes de origen suramericano, en especial la mutación Q163X, como causa de CMT4A.

Adolescente , Criança , Feminino , Humanos , Doença de Charcot-Marie-Tooth/genética , Mutação Puntual , Colômbia , Consanguinidade , Doença de Charcot-Marie-Tooth/patologia , Éxons , Homozigoto , Proteínas do Tecido Nervoso , Linhagem
Säo Paulo med. j ; 133(4): 377-380, July-Aug. 2015. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: lil-763371


CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He was the first child of young, healthy and consanguineous parents (fourth-degree relatives). The parents had normal head circumferences and intelligence. The patient presented microcephaly and specific abnormalities of the retina, with multiple diffuse oval areas of pigmentation and patches of chorioretinal atrophy associated with diffuse pigmentation of the fundus. Ophthalmological evaluations on the parents were normal. A computed tomography scan of the child's head showed slight dilation of lateral ventricles and basal cisterns without evidence of calcifications. We did not find any lymphedema in his hands and feet. He had postnatal growth retardation, severe mental retardation and cerebral palsy.CONCLUSIONS: The finding of chorioretinal lesions in a child with microcephaly should raise suspicions of the autosomal recessive form of microcephaly-chorioretinopathy syndrome, especially in cases with an atypical pattern of eye fundus and consanguinity. A specific diagnosis is essential for an appropriate clinical evaluation and for genetic counseling for the patients and their families.

CONTEXTO: A forma autossômica recessiva da síndrome de microcefalia-coriorretinopatia é condição genética rara, considerada um importante diagnóstico diferencial com toxoplasmose congênita.RELATO DO CASO: O paciente era um menino branco de sete anos de idade, inicialmente diagnosticado com toxoplasmose congênita. No entanto, suas sorologias para infecções congênitas, incluindo a toxoplasmose, eram negativas. Ele foi o primeiro filho de pais jovens, hígidos e consanguíneos (parentes de quarto grau). Os pais apresentavam perímetro cefálico e inteligência normais. O paciente apresentava microcefalia e anormalidades específicas da retina com áreas ovais de pigmentação múltiplas e difusas, além de manchas de atrofia coriorretiniana associadas à pigmentação difusa do fundo de olho. A avaliação oftalmológica dos pais foi normal. A tomografia computadorizada de crânio da criança mostrou discreta dilatação dos ventrículos laterais e cisternas basais, sem evidência de calcificações. Nós não verificamos a presença de linfedema em suas mãos e pés. Ele possuía retardo do crescimento pós-natal, deficiência mental grave e paralisia cerebral.CONCLUSÃO: O achado de lesões coriorretinianas em uma criança com microcefalia deve aumentar a suspeita da forma autossômica recessiva da síndrome de microcefalia-coriorretinopatia, principalmente em casos com padrão atípico de fundo de olho e consanguinidade. O diagnóstico preciso é essencial para correta avaliação clínica e aconselhamento genético dos pacientes e suas famílias.

Criança , Humanos , Masculino , Microcefalia/genética , Epitélio Pigmentado da Retina/anormalidades , Consanguinidade , Paralisia Cerebral/genética , Deficiência Intelectual/genética , Linhagem , Síndrome
Zanco Journal of Medical Sciences. 2015; 19 (1): 866-873
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-175882


Background and Objectives: Cleft lip and palate are congenital deformities that affect the primary and secondary palates during embryogenesis. The objectives of this study was to record the pattern of presentation of cleft lip and palate in Erbil, the types of surgical procedures, the outcome and complications, hence making recommendations to ensure improved care

Methods: This is a prospective study conducted in Erbil city, in the Department of Plastic Surgery at Rezgary Teaching Hospital and Rapareen Pediatric Hospital from March 2009 to May 2013. A total of 164 patients with cleft lip/palate were included in this study. Statistical package for the social sciences [version 18] was used for data entry and analysis

Results: The age ranged from birth to 24 years. The ratio of male to female was 1.4: 1. The combined cleft lip and palate was the commonest type [87 cases, 53%]. The commonest risk factor was poor family [105 cases, 64%], followed by consanguinity [97 cases, 59%]. The commonest procedure for cleft lip repair was Millard [67 cases] and that for cleft palate repair was Furlow palatoplasty [57 cases]. The commonest complication of cleft lip repair was wide scar [9 cases, 7.5%] mostly below one year of age. Ninety-one percent of the parents were satisfied with the children's appearance of the lip and 86% of parents were satisfied with palatoplasty result

Conclusion: The high degree of association of consanguinity with the cleft lip and palate emphasizes the importance of education about discouraging consanguineous marriage. Millard repair is still the commonest procedure for cleft lip repair

Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Fissura Palatina , Gerenciamento Clínico , Estudos Prospectivos , Consanguinidade , Criança
SQUMJ-Sultan Qaboos University Medical Journal. 2015; 15 (2): 161-167
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-171456


This review article provides an overview of the levels, trends and some possible explanations for the increasing rate of low birth weight [LBW] infants in Oman. LBW data from national health surveys in Oman, and published reports from Oman's Ministry of Health and the World Health Organization were collected and assessed between January and August 2014. Oman's LBW rate has been increasing since the 1980s. It was approximately 4% in 1980 and had nearly doubled [8.1%] by 2000. Since then, it has shown a slow but steady rise, reaching 10% in recent times. High rates of consanguinity, premature births, number of increased pregnancies at an older maternal age and changing lifestyles are some important factors related to the increasing rate of LBW in Oman. The underlying causes of this increase need to be understood and addressed in obstetric policies and practices in order to reduce the rate of LBW in Oman

Recém-Nascido , Lactente , Nascimento Prematuro/epidemiologia , Mortalidade Infantil , Consanguinidade , Incidência
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-209617


Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2. Although it presents with typical signs and symptoms, diagnosing this disease remains difficult. This case report describes a male with NHD with no family or past history of bone fractures who was diagnosed using exome sequencing. His frontal lobe psychiatric symptoms recovered partially following treatment with sodium valproate, but not with an antipsychotic.

Cistos Ósseos , Consanguinidade , Exoma , Fraturas Ósseas , Lobo Frontal , Humanos , Masculino , Sódio , Ácido Valproico
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 (2): 203-207
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-154338


Rare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the Arab population. One of these deleterious diseases is Senior-Loken syndrome, a hereditary heterogeneous multiorgan disorder, which combines nephronophthisis with retinal dystrophy, leading to blindness and eventually end stage renal failure. This disorder has been reported in many cases worldwide, including two unrelated families from Arabian Gulf countries, which share the gene pool with Kuwait. Here, we are reporting two children from an Arab family with a novel frameshift mutation found in IQCB1/NPHP5 gene; c.1241-1242delTC, predicted to cause protein termination p.Leu414HisfsStop4, and describing the associated clinical features. Identification of this pathogenic mutation helped in confirmation of the clinical diagnosis and in providing a proper pre-marital genetic counselling and testing for a couple embarking on marriage from this highly consanguineous high-risk family

Humanos , Masculino , Feminino , Doenças Renais Císticas , Amaurose Congênita de Leber , Consanguinidade , Mutação/genética , Aconselhamento