RESUMO
INTRODUCTION: There is no clear consensus as regards the exact incidence of congenital heart disease. The objective of this study was to determine the incidence of congenital heart defects in Badajoz province (Spain). MATERIAL AND METHODS: This is a retrospective study based on the clinical histories of 742 patients who were seen for the first time during 1997 in the paediatric cardiology unit of Badajoz Women and Children's Hospital. The incidence of congenital Heart defects is calculated by adding the number of patients assessed in 1997 and those who will be assessed in the future, considering the population born in 1997. The last figure is inferred from the number of patients who were born before 1997 and were assessed in that year, comparing the number of newborns between 1997 and previous years. The number of patients is divided by the total newborns in 1997 and multiplied by 1,000. RESULTS: Congenital heart defects were found in 15.6 % of the patients seen during 1997. The incidence ranges from 16.1 to 5.4 new cardiac diseases per 1,000 newborn babies per year if some minor congenital heart defects that are not considered in other publications are excluded, such as interatrial communication of the ostium secundum type, interventricular communication of the small muscle, mild prolapsed mitral valve, bicuspid aortic valve, patent ductus arteriosus in prematures infants, silent ductus arteriosus and congenital arrhythmias. CONCLUSIONS: The incidence of congenital heart defects in Badajoz province range from 16.1 to 5.5 new cardiac diseases per 1,000 newborn babies per year. We consider that the incidence in the Badajoz province is reliable and similar to other recent publications.
Assuntos
Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/fisiopatologia , Área Programática de Saúde , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Prevalência , Índice de Gravidade de Doença , Espanha/epidemiologiaRESUMO
We report a case of de novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). The patient showed dysmorphic features (flat face, short and horizontal palpebral fissures, depressed and broad nasal bridge, wide nose with hypoplastic alae nasae, short and flat philtrum, high arched palate, micrognathia, anomalies of the ears), redundant adipose panniculus of the neck, proximal shortening of the limbs, flexion contractures, long and distally widened fingers, bilateral clubfoot, single umbilical artery, hypoplasia of lung and pulmonary arteries, atrial septal defect and patent ductus arteriosus. She died 23 hours after birth from respiratory failure. Chromosome analysis with high resolution GTG bands showed 46,XX,1p1, which was interpreted as a partial duplication of the distal long arm of chromosome 5 (q31--> qter). Fluorescence in situ hybridization analyses with whole chromosome painting technique for chromosome 5 proved that this extra region belonged to chromosome 5. Our case is the first to have a de novo partial duplication of this chromosome segment.
Assuntos
Cromossomos Humanos Par 5/genética , Anormalidades Craniofaciais/genética , Duplicação Gênica , Feminino , Humanos , Recém-Nascido , Cariotipagem , FenótipoRESUMO
We report a new case of partial trisomy 18q due to a balanced reciprocal translocation 4;18 in the mother. The female infant had a partial trisomy of the long arm of chromosome 18 associated with a partial monosomy of distal 4q. The infant showed many of the main clinical features of trisomy 18, such as dysmorphic face, congenital heart defect, crossing of the second and fifth fingers over the third and fourth with flexion contractures, and abnormal genitalia. We believe that the trisomy 18 phenotype requires a large region of 18q and that the greater the trisomic fragment, the more severe the expression. We stress the importance of genetic counseling to carriers of balanced translocations. The risk for each case should be evaluated and information should be given on the possibility of prenatal diagnosis.
Assuntos
Cromossomos Humanos Par 18 , Translocação Genética , Trissomia , Feminino , Humanos , Recém-NascidoAssuntos
Cistationina/urina , Criança , Pré-Escolar , Cistationina/metabolismo , Feminino , Humanos , Masculino , Piridoxina/uso terapêuticoAssuntos
Córtex Cerebral/anormalidades , Adolescente , Córtex Cerebral/diagnóstico por imagem , Paralisia Cerebral/congênito , Paralisia Cerebral/diagnóstico , Criança , Transtornos Cognitivos/diagnóstico , Eletroencefalografia , Epilepsia/congênito , Epilepsia/diagnóstico , Feminino , Humanos , Transtornos da Linguagem/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Síndrome , Tomografia Computadorizada por Raios XRESUMO
We describe 5 Spanish children with Kabuki make-up syndrome (KMS)-3 females and 2 males-identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental retardation, postnatal growth deficiency, distinctive facial appearance, sagittal vertebral clefts, and dermatoglyphic abnormalities were present in all 5. Congenital heart defects were present in 4 patients. In addition, one had myopia, astigmatism, and bilateral paralysis of the VI cranial nerve. Another had apparent fusion of the hamate and capitate. An additional patient, as well as his mother, had an apparently balanced 15/17 translocation [46,XY,t(15;17) (15q;21q)]. The fact that these patients were ascertained in a catchment area of approximately 250,000 inhabitants and in a relatively limited period of time suggests that the prevalence of the KMS may be higher than previously recognized.
Assuntos
Anormalidades Múltiplas/genética , Face/anormalidades , Deformidades Congênitas da Mão/genética , Cardiopatias Congênitas/genética , Deficiência Intelectual/genética , Anormalidades Múltiplas/epidemiologia , Adulto , Área Programática de Saúde , Pré-Escolar , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Cromossomos Humanos Par 15/ultraestrutura , Cromossomos Humanos Par 17/ultraestrutura , Dermatoglifia , Feminino , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Linhagem , Prevalência , Espanha/epidemiologia , Síndrome , Translocação GenéticaAssuntos
Ataxia Cerebelar/complicações , Síndrome do Desconforto Respiratório do Recém-Nascido/complicações , Ataxia Cerebelar/genética , Criança , Aberrações Cromossômicas , Transtornos Cromossômicos , Transtornos do Crescimento/complicações , Transtornos do Crescimento/genética , Humanos , Hiperventilação/complicações , Hiperventilação/genética , Recém-Nascido , Masculino , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Síndrome , Taquicardia/complicações , Taquicardia/genéticaAssuntos
Anormalidades Múltiplas/genética , Couro Cabeludo/anormalidades , Síndrome de Turner/genética , Valva Aórtica/anormalidades , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Feminino , Síndrome do Cromossomo X Frágil/genética , Humanos , Recém-Nascido , Cariotipagem , Fatores Sexuais , Síndrome de Turner/complicaçõesRESUMO
Eighty-one healthy prepubertal children of short stature, between two and twelve years of age, were divided into four homogeneous groups. Each group was treated with a placebo for one year and for a second year with one of the following drugs (double blind): clonidine (CI), arginine asprate (AA), ornithine alphaketoglutare (OKG), or cyproheptadine (Cp). CI and OKG did not better the standard deviation of height. AA and Cp did, but to no greater extent than the placebo. The growth rate did not change in any group. The ratio of bone age/chronological age was significantly higher at the end of the OKG year than at the end of the year with placebo, a difference that was not found in any other group. The prognosis of adult height (TW2) did not change in any group. The standard deviation of weight increased in all groups, both with the placebo and the various drugs, without significant differences between the groups. The CI caused frequent clinical side effects, including a reversible increase in transaminases in one child. The Cp stimulated hunger. The AA and OKG did not produce side-effects and the placebo increased appetite in 11% of the children. Somatomedin C was significantly higher after one year with Cp than after one year with the placebo, significantly higher after the placebo than after CI and AA and there was no difference between the treatment with the placebo and OKG. Growth hormone values in a 24 hour urine sample were so scattered that we do not consider them helpful.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Clonidina/farmacologia , Ciproeptadina/farmacologia , Crescimento/efeitos dos fármacos , Ornitina/farmacologia , Arginina/farmacologia , Ácido Aspártico/farmacologia , Estatura/efeitos dos fármacos , Criança , Pré-Escolar , Método Duplo-Cego , Feminino , Substâncias de Crescimento/farmacologia , Humanos , Ácidos Cetoglutáricos/farmacologia , MasculinoRESUMO
A total of 9,959 ultrasonography studies of the upper excretory urinary system during the first three days of life of all the children born in this centre were carried out over a period of three years. Sonographic abnormalities were found in 125 patients (1.26 per 100) consisting of: Prominent pelvis in 35, pyelic ectasia in 45, hydronephrosis in 16, ureterohydronephrosis in seven, renal agenesis in 14, multicystic kidney in two, renal ectopia en two, other anomalies in four. There had been prenatal sonographic diagnosis of the urinary tract abnormality in 24 patients, all with pyelic ectasia or hydronephrosis. The sonography of the patients with prominent pelvis normalized before three months of age. Intravenous urography was performed on most of the remaining 90 patients, confirming the diagnosis in the greater part, and serial voiding cystourethrography which detected vesicoureteric reflux in 21 of 77 patients. The definitive diagnosis was arrived at in all patients after carrying out the sonography and the uroradiological test. This made prophylactic antibiotic treatment possible in many of the cases and surgical correction of the anomaly in 30, performing pyeloureteroplasty in 11, neo-ureterocystostomy in 10, nephrectomy in five, heminephroureterectomy in three and derivation to the skin in one. Twenty of these patients were operated before three months of age. The number of uropathies operated at early ages at this centre has risen remarkably since introduction of systematic neonatal urinary sonography.
Assuntos
Ultrassonografia Pré-Natal , Doenças Urológicas/diagnóstico por imagem , Fatores Etários , Feminino , Humanos , Recém-Nascido , Gravidez , Sistema Urinário/anormalidades , Sistema Urinário/diagnóstico por imagem , Sistema Urinário/cirurgia , Urografia , Doenças Urológicas/cirurgiaAssuntos
Anormalidades Induzidas por Medicamentos/etiologia , Anormalidades Múltiplas/induzido quimicamente , Pênis/anormalidades , Tretinoína/efeitos adversos , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Complicações na Gravidez/tratamento farmacológico , Psoríase/tratamento farmacológico , TeratogênicosRESUMO
The unilateral testicular torsion produce alteration of contralateral testes, with a frequence of sterility and alteration sperm bigger than normal population. The great differences report for various authors in the works make necessary to know better the pathogenesis of the testicular torsion about the fertility. With the aim to study this aspect, we carry out this experimental work in that animals with testicular torsion, although with individual results very different, have, again the animals with sham intervention, less number of sperm (P less than 0.001), with less time of survivorship (P less than 0.001), bigger percentage of precocious agglutination and abnormal shape (P less than 0.001) and bigger quantity of immobile sperm. These alteration as adult animals, but they are bigger in the late.