RESUMO
Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital. There were 25 individuals in the case group and 41 in the control group. Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism.
Assuntos
Metabolismo dos Carboidratos , Genótipo , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Mães , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/metabolismo , Polimorfismo de Nucleotídeo Único , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Homocisteína/sangue , Humanos , Incidência , Defeitos do Tubo Neural/epidemiologia , Gravidez , Fatores de Risco , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/genética , Disrafismo Espinal/metabolismo , Adulto JovemRESUMO
Munchausen syndrome by proxy is an illness which is very difficult to diagnose. It has a high morbidity and mortality rate. The knowledge of the characteristics of the victim and the perpetrator can be quite useful for its early recognition. The American Professional Society on the Abuse of Children, has recently brought the terms for the syndrome up to date. We look at this updating and present six cases diagnosed in our hospital, analysing their main features and comparing them with the medical literature.
Assuntos
Síndrome de Munchausen Causada por Terceiro/diagnóstico , Síndrome de Munchausen Causada por Terceiro/psicologia , Adulto , Criança , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Simulação de Doença/diagnóstico , Simulação de Doença/psicologia , Mães/psicologiaRESUMO
We present a 16 years old female with a chromosomal mixoploidy and multiple phenotypic anomalies. Peripheral blood G-band karyotype was 47,XXX and her skin fibroblast karyotype revealed a mosaic with a 47,XXX cell line in 88% of metaphases and a 94,XXXXXX cell line in 12% of metaphases, consistent with a hypertetraploidy. The most prominent clinical signs were: short stature, left upper limb asymmetry, senile-like appearance, generalized hypertrichosis, and small hands and feet. Radiological examination showed bone dysplasia. The result of molecular studies demonstrated that the patient inherited the two X chromosomes from the mother and one from the father, indicating that her 47,XXX trisomy resulted from an oogenesis error in the first meiotic division. The 94,XXXXXX cell line was likely the result of a cytokinesis error. To our knowledge, this is the first documented patient with a trisomy and a hypertetraploidy.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos X , Poliploidia , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/genética , Trissomia/genética , Adolescente , Feminino , Humanos , Cariotipagem , MosaicismoRESUMO
A case with unusual presentation of Munchausen syndrome by proxy is reported. It was shown through reiterated ingestion of foreign bodies (two earrings, probably a button but not confirmed, a 5 cm. screw and two sewing needles) perpetrated by a 22-year-old mother with a psychiatric record of behavior disorders and family dysfunctions on a 10-month-old infant with a history of prematurity, repeated visits to emergency rooms, and nonjustified multiple hospital admissions. The difficulties in the diagnosis and the need for an early detection are brought up, making considerations in regard to indicators, diagnostic criteria, and management procedure.
Assuntos
Corpos Estranhos/diagnóstico por imagem , Mães/psicologia , Síndrome de Munchausen Causada por Terceiro/diagnóstico por imagem , Estômago , Adulto , Serviço Hospitalar de Emergência , Feminino , Corpos Estranhos/psicologia , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Síndrome de Munchausen Causada por Terceiro/psicologia , Admissão do Paciente , Radiografia , RecidivaRESUMO
We have used a continuous perfusion probe for manometry in newborns. We carried out 95 pressure recordings in 56 patients labeled as delayed passage of meconium longer than 24 h. When the relaxation reflex of the anal canal was not present after rectal stimulation with a distensible balloon, the tests were repeated weekly up to the first month of life. Thereafter, suction biopsies were carried out to confirm the final Hirschsprung's disease (HD) diagnosis. The amplitudes of the fluctuating waves in HD subjects were higher than those in non-HD patients. Although the procedure could provide false positive results, no possibilities exist for false negative results as proved in our study. All the five cases with HD were diagnosed by our manometric procedure as well as by histochemistry. The method is advantageous and profitable for the diagnosis of HD in case of delayed passage of meconium or distal functional obstruction of the anal canal.
Assuntos
Doença de Hirschsprung/diagnóstico , Manometria/instrumentação , Biópsia , Feminino , Doença de Hirschsprung/patologia , Doença de Hirschsprung/fisiopatologia , Humanos , Recém-Nascido de Baixo Peso/fisiologia , Recém-Nascido , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/patologia , Doenças do Prematuro/fisiopatologia , Masculino , Reto/patologia , Reto/fisiopatologiaRESUMO
We present the cases of two sisters, daughters of healthy, non-consanguineous parents, who have a clinical syndrome characterized by microcephaly, cortical dysplasia, ventriculomegaly, hypoplasia of the corpus callosum, hypogenesis of the cerebellar vermis, cataracts, microphthalmia, optic nerve atrophy, retinal coloboma, weight and height below 3rd centile, severe mental retardation, no speech, inability to sit, no sphincter control and a spastic tetraparesis. The facies are mildly dysmorphic, but not distinctive. No metabolic, nor chromosomal anomalies were found. The cases are very similar to, but not identical, to those described by Warburg et al [Am J Med Genet (1993) 147:1309-1312] as Micro syndrome.
Assuntos
Anormalidades Múltiplas , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Anormalidades do Olho , Fácies , Feminino , Humanos , Lactente , Deficiência Intelectual , Hipotonia Muscular , Radiografia , SíndromeRESUMO
AIMS: This study was conducted to evaluate, from a psychological and neurological point of view, the situation of newborn infants (NI) suffering from congenital heart disease before they are treated surgically. At the same time, we aimed to compare this group of patients with another group of children who were considered to be healthy. PATIENTS AND METHODS: Patients psychological development was evaluated using developmental landmarks from the Observational Scale of Development (OSD), which provides a percentage of elements acquired in different areas. Behaviour was evaluated by the observational recording of particular patterns of behaviour. The neurological study was based on a detailed neonatal examination, performed by people from the Child Neurology Section at our hospital, and which took into account the different behaviours displayed by the NI: reactive, grasping, communicative and affective. RESULTS: Findings show significant differences both in the psychological and neurological variables studied. They show how, generally speaking, healthy infants score higher in the areas of development that were evaluated than children suffering from heart disease. Likewise, lower average scores were observed in heart disease patients who require an early intervention, as compared with those who will be submitted to surgery later on. From the neurological point of view, a number of significant differences were found in their muscular activity. CONCLUSIONS: This analysis, a groundbreaker in the study of infants suffering from heart disease before their surgical intervention, shows how newborn infants who have been submitted to surgery in the neonatal period present a significant degree of hypotonia, a certain frailness and retardation in their motor development.
Assuntos
Desenvolvimento Infantil , Cardiopatias/congênito , Cardiopatias/cirurgia , Destreza Motora/fisiologia , Técnicas de Diagnóstico Neurológico , Intervenção Educacional Precoce , Feminino , Humanos , Recém-Nascido , Gravidez , Inquéritos e QuestionáriosRESUMO
We have witnessed dramatic scientific, technological and social advances in the first decade of the XXI century. New sociological realities have enforced the rights of children, the family and gender and inequalities need to be faced under the criteria of equality in a multicultural context. It is a time to boost the overall view of childhood, to put the phonendoscope on the minor and the family, to assess the complexity of facts, such as abuse from its many facets, to shorten the distance between patients, increasing our cultural competence and to critically reflect on medicalising life as a social symptom and their possible consequences for children.
Assuntos
Pediatria , Problemas Sociais , Criança , Características Culturais , HumanosAssuntos
Varicela/complicações , Fasciite Necrosante/etiologia , Pré-Escolar , Feminino , Humanos , ImunocompetênciaRESUMO
An evaluation of cerebral blood flow (CBF) was carried out with a Toshiba Sonolayers-S SSH-60 A echography in 127 infants with open major fontanelle which were divided in 3 groups: a) 69 non premature newborn, in which a physiological variation of all CBF parameters was found; b) 29 neurologically normal preterm infants, where the resistance index always was higher than in the preceding group, at the expense of a lower diastolic flow, in which for the first time the "physiological variation of diastole" independent of the gestational age is reported. This variation results in changes in the cerebral flow in the situations of exercise, rest or stress; c) 29 preterm infants with some abnormality, who also showed the physiologic variation of diastole with a poor flow quality were found.
Assuntos
Circulação Cerebrovascular/fisiologia , Diástole/fisiologia , Recém-Nascido Prematuro/fisiologia , Velocidade do Fluxo Sanguíneo/fisiologia , Humanos , Recém-NascidoRESUMO
The Doppler effect and its application on the human body is described as well as its specific use in pediatric age: cerebral blood flow, liver and renal transplants, vascular-renal and portal hypertension and characterization of mass, tissue and structure. The results of 107 studies with Doppler duplex echograph on 86 neonates are analysed. The anterior and posterior cerebral arteries were sounded. The parameters taken into consideration were ten maximum systolic velocity (VS), the final diastolic velocity (VD), Bada's pulsatility index (IP) and the morphology of the curve. In 35 normal newborns the results were: maximum systolic velocity 24.08 +/- 4.30 cm/s, the final diastolic velocity 8.77 +/- 1.86 cm/s, Bada's pulsatility index. In the caesarean born neonates in both forms of anaesthesia, and those born by EVA delivery (stimulation, suction and analgesia) slight increases were observed, in comparison with the normal newborn group, in the maximum systolic velocity and Bada's pulsatility index.
Assuntos
Circulação Cerebrovascular , Ecocardiografia Doppler , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
Sialidosis (McKusick 256550) is an autosomal recessive disorder resulting from mutations in the NEU gene, located in 6p21.3, which leads to deficiency of alpha-N-acetyl neuraminidase (sialidase) activity, causing an accumulation of its substrates, oligosaccharides, in the lysosomes of various organs and tissues and an increased presence in urine and other organic fluids. We present a clinical report of three patients diagnosed for type II sialidosis. The first patient is a 12-year-old boy with the classic infantile form. His sister had a congenital form of sialidosis and died at 20 months of age. The third, nonrelated patient presented shortly after 1 year of age and had borderline cognitive delay at 9 years. All three patients were homozygous for the C808T mutation of the NEU gene. Their ancestors originated from a small area to the east of the city of Seville (Spain), suggesting the existence of a Seville founder mutation.
Assuntos
Lisossomos/enzimologia , Mucolipidoses/genética , Mutação , Neuraminidase/genética , Criança , Pré-Escolar , Éxons/genética , Efeito Fundador , Humanos , Masculino , Mucolipidoses/enzimologia , Mucolipidoses/patologiaRESUMO
A retrospective study of 100 dehydrated children with ages between 0 and 18 months is presented. Ecologic, epidemiologic, clinical and biochemical aspects are revised, as the first part of a series. Relating facts to distribution according with ages and etiology in cases of bacterial diarrhea are similar to other authors. Hypertonic dehydration caused by concentrated nutrition of feeding is prominent, in tight relation with children in low socioeconomically groups. 31% of children had natremia between 150 and 160 mEq/I; and 16% over to 160 mEq/I. Hypocalcemia during rehydration was rarely observed.
Assuntos
Desidratação , Desidratação/diagnóstico , Desidratação/epidemiologia , Diarreia Infantil/diagnóstico , Diarreia Infantil/epidemiologia , Feminino , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Masculino , Estações do Ano , EspanhaRESUMO
A new case of the Smith-Lemli-Opitz Syndrome is reported, associated with a type of congenital cardiopathy not described previously in this syndrome.
Assuntos
Anormalidades Múltiplas , Transtornos do Crescimento , Anormalidades Múltiplas/diagnóstico , Diagnóstico Diferencial , Transtornos do Crescimento/diagnóstico , Cardiopatias Congênitas/diagnóstico , Humanos , Lactente , Masculino , Microcefalia/diagnóstico , SíndromeRESUMO
The case of two brothers with thoracic asphyxiant dystrophy, associated with cystic renal dysplasia in one of them, is reported. Differential diagnosis with other chondrodystrophies, specially with the Ellis van Creveld Syndrome is made, and the influence of the nephropathy on the vital prognosis of the affection is pointed out. The photographs show the characteristic and differential signs of this entity.
Assuntos
Nefropatias/complicações , Osteocondrodisplasias/complicações , Doenças Torácicas/complicações , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Nefropatias/genética , MasculinoRESUMO
It is described a desquamative interstitial pneumonia diagnosed by open biopsy of the lung, in a nine-month-old infant. The disease began at about two-months-old, with underdevelopment and evolution to progressive respiratory insufficiency that finished with the exitus at nine-months-old, before the initiation of the treatment with steroid. It is commented the bad prognostic in young infants diagnosed during the first year of life, questioning the utility of separate the desquamative interstitial pneumonia of the usual interstitial pneumonia in infants less than one-year-old.
Assuntos
Fibrose Pulmonar/patologia , Biópsia , Feminino , Humanos , Lactente , Pulmão/patologia , Prognóstico , Fibrose Pulmonar/classificação , Fibrose Pulmonar/diagnóstico por imagem , RadiografiaRESUMO
A case of idiopathic intestinal lymphangiectasis is reported in a three month old child. Clinical course and laboratory findings are given in relation to administration of three diets containing different concentrations and types of fat. Short term improvement was only noticed with diets containing low concentrations of long chain triglycerides supplement with medium chain triglycerides. Clinical manifestations related to fat malabsortion improved greatly but there was no relationship with serum protein level. No effect on low level of gamma-globulins and lymphatic displasia was found as sawn in an intestinal biopsy performed after three months of treatment. Nevertheless, long-term results were poor and only were evident in a diminution of steatorrhea and normalization of stools.
Assuntos
Doenças do Recém-Nascido/dietoterapia , Linfangiectasia Intestinal/dietoterapia , Enteropatias Perdedoras de Proteínas/dietoterapia , Gorduras na Dieta/uso terapêutico , Humanos , Lactente , Recém-Nascido , Masculino , Métodos , Triglicerídeos/uso terapêuticoRESUMO
A case of hypopituitarism in a female, aged 6 months, whose first symptom consisted of hypoglycemic convulsions is reported. Making use of TRH we confirm the hypothalamic origin of pituitary failure. Substitution therapy controlled the episodes of convulsions and normalized the growth rate of the child.
Assuntos
Hipoglicemia/etiologia , Hipopituitarismo/complicações , Convulsões/etiologia , Glândula Tireoide/fisiologia , Hormônio Adrenocorticotrópico , Feminino , Glucagon , Crescimento/efeitos dos fármacos , Hormônio do Crescimento/uso terapêutico , Humanos , Hipopituitarismo/diagnóstico , Hipotálamo/fisiopatologia , Lactente , Convulsões/tratamento farmacológico , Serotonina/metabolismo , Estimulação Química , Tireotropina , Hormônio Liberador de Tireotropina , TolbutamidaRESUMO
132 cases of dehydration in children under one month of age with a hight proportion of hypertonic dehydration, relating usually to a hyperconcentrated diet, are analyzed, taking into consideration ecological, epidemiological, clinical, biochemical and bacteriological aspects. Decrease in maternal lactation and social hygienic situation were principal factors. Hyperthermia and diarrhoea, were the initial symptoms requiring medical attention, in hypertonic dehydration, being of little importance the neurological manifestations of considerabble incidence and serious posterior repercussion. Important metabolic alterations and the small proportion of positive cultures in feces are evident, relating to those of other authors.