FISH, PCR and cytogenetic characterization in a girl with ambiguous genitalia and karyotype mos46,X,iso(Y)(qter-->p11.3::p11.3-->qter)[80]/45,X[17]/46,X,+mar[3].

A cytogenetic study was carried out in a girl with virilized external genitalia, who showed a karyotype containing a Y isochromosome in mosaic form: mos46,X,iso(Y)(qter-->p11.3::p11.3-->qter)[80]/45,X[17]/46,X,+mar[3]. The chromosome aberrations were confirmed by fluorescence in situ hybridization analysis, with both whole chromosome paint Y probe and centromeric X chromosome probe. The molecular analyses by PCR detected the presence of the SRY, DAZ and AMGY genes, confirming the presence of the whole long arm and almost whole short arm of the Y chromosome. We suggest that the structural alteration of the Y chromosome was a new mutation, which occurred in the initial mitotic divisions of the embryo, originally 46,XY. The breakpoints occurred on the distal extremity of the short arm with later fusion of its extremities producing a Y isochromosome. The later numerical alteration occurred as a consequence of chromosomal instability. Although almost all cells (80%) in peripheral blood belonged to the iso(Y) line with a duplicated SRY gene, this did not determine male sexual differentiation in the patient. The result of accurate evaluation provides correct sex assignment and the prevention of the neoplastic degeneration of a dysgenetic gonad.

Congenital left-sided Bochdalek diaphragmatic hernia. Thoracoscopic repair--case report.

The authors report the case of a 12-year-old girl who presented with a left-sided diaphragmatic hernia that was diagnosed after a pulmonary infection. CT scan confirmed a posterolateral diaphragmatic Bochdalek defect. The child underwent a thoracoscopic repair of the defect in 1997. The herniated contents included spleen, stomach, and intestine. The child was discharged from hospital the day after surgery. She has been followed up and is clinical and radiologically well.

Neurocysticercosis in a preschool-age child: case report.

Neurocysticercosis is a frequent cause of epilepsy and other neurologic abnormalities in all age groups, however by virtue of its prolonged incubation period as well as young children's nutritional habits, it is rarely seen in preschool-age children. The objective of this study is to report the case of a 2 year-old child who presented with new-onset seizures. Her diagnostic features, including neuroradiologic findings, are described and compared with the literature. No matter how young he or she may be, every child who presents with new-onset seizures or other unexplained neurologic features and whose CT or MRI shows cystic lesions or contrast-enhancing rounded lesions should raise a suspicion of neurocysticercosis.

[Graves-Basedow's disease in childhood and adolescence: clinical and biologic features in 49 patients]. / Enfermedad de Graves-Basedow en la infancia y la adolescencia: aspectos clinicobiológicos en 49 casos.

INTRODUCTION: Graves' disease is rare in childhood and adolescence. PATIENTS AND METHODS: Six boys and 43 girls between the ages of 2 and 18 years were evaluated. All presented diffuse goiter and symptomatology of hyperthyroidism. Concentrations of T4, FT4, T3 and TSH were determined by RIA with various sensitivities during the study. Thyroid antibodies were determined by hemagglutination. All patients were treated with antithyroid drugs. RESULTS: In five patients, growth velocity increased. In a further five patients association with other autoimmune diseases was detected. Quetelet's index was between the 90th and 97th percentiles in five patients and between 3rd and 10th in eight. Biochemical results were as follows: T4: 282.41 +/- 1.1 nmol/1; FT4: 62.98 +/- 1.1 pmol/l; T3: 4.92 +/- 0. 07 nmol/l) and TSH: > 0.002-0.001 mU/l. Values of TSI/TRAb were 33. 23 +/- 1.95 U/l. Four total remissions and 1 partial remission were observed. Four patients underwent surgery and eight received radioiodine. CONCLUSIONS: Few remissions were obtained with medical treatment. Radioiodine seems to be a therapeutic alternative.

Enfermedad de graves-basedow en la infancia y la adolescencia: aspectos clinicobiológicos en 49 casos / Grave's disease in childhood and adolescence: clinical and biochemical aspects in 49 patients

INTRODUCCIÓN: La enfermedad de Graves-Basedow es rara en la infancia y la adolescencia. PACIENTES Y MÉTODOS: Se han evaluado 6 niños y 43 niñas, con edades comprendidas entre 2 y 18 años. Todos presentaban un bocio difuso y sintomatología de hipertiroidismo. Las concentraciones de T4, FT4, T3 y TSH se determinaron por radioinmunoanálisis con diferente sensibilidad a lo largo del tiempo y los anticuerpos, por hemaglutinación. Todos fueron tratados con fármacos antitiroideos. RESULTADOS: En 5 casos se detectó un aumento de la velocidad de crecimiento y en otros 5 había una asociación con otras autoinmunopatías. El índice de Quetelet estaba entre los percentiles 90 y 97 en 5 casos, y entre 3 y 10 en 8 casos. Los resultados bioquímicos fueron: T4 282,41 ñ 1,1 nmol/l; FT4 62,98 ñ 1,1 pmol/l; T3 4,92 ñ 0,07 nmol/l; TSH < 0,002 mU/l. Los valores de TSI/TRAb fueron 33,23 ñ 1,95 U/l. Se han obtenido 4 remisiones totales y una parcial. En 4 ocasiones se recurrió a cirugía y 8 pacientes recibieron 131I. CONCLUSIÓN: Se han obtenido pocas remisiones con el tratamiento médico y el radioyodo parece ser una terapéutica alternativa (AU)

Tratamento das fraturas cominutivas da diáfise do fêmur pela técnica de placa em ponte: amostragem-casuística / Treatment of comminuted fractures of diaphyse of the femur by bridging plate technique: sampling and case study

Foram acompanhados dez pacientes que apresentavam fratura cominutiva da diáfise do fêmur; oito do sexo masculino, dois do sexo feminino, subdivididos nos tipos IV e V da classificaçäo de Winquist & Hansen, sendo três casos de fraturas abertas por projétil de arma de fogo (PAF). Todos tratados cirurgicamente com osteossíntese pelo método de placa em ponte. Observou-se consolidaçäo em 100 porcento dos casos e os resultados considerados excelentes em 40 porcento, bons em 50 porcento e regulares em 10 porcento. Näo observamos resultado ruim nesta amostragem. Considerou-se, portanto, näo obstante a casuística limitada, método relevante e efetivo no tratamento das fraturas femorais com elevado grau de cominuiçäo

[Experimental suture of the rat ureter]. / Sutura experimental del uréter en la rata.

The urological complications of renal transplantation in the rat when the bladder dome is used prompted us to study the viability of uretero-ureteral anastomosis with microsurgical techniques. The purpose of the study was to improve certain aspects of the technique employed in renal transplantation in the rat. For the study we utilized 27 Wistar rats. The left ureter was transected and anastomosed by free extramucosal sutures using the 180 degrees biangulation technique. Two groups of 13 rats were studied. For group A, a 6-0 nylon guide was used for the anterior aspect, whereas for group B anastomosis was performed without a guide. A urographic study was performed prior to sacrifice 21 days post-operatively. The pathological analysis included determination of foreign body reaction at the anastomotic site and the status of the renal parenchyma. The findings demonstrated better results were achieved in comparison with the technique previously employed using the bladder dome. Although slightly longer, using a guide seems to afford more reliable results, and is a useful technique in renal transplantation.

Liver blood flow and enzyme induction in man.

An increased liver blood flow in rats and monkeys found following induction of the liver microsomal enzyme system by antipyrine and phenobarbitone, formed the basis of the present study in 7 volunteers. The total body clearance of antipyrine, gamma GT, and the urinary excretion of d-glucaric acid and 6-beta-hydroxycortisol were measured. Liver blood flow was estimated after an overnight fast under basal conditions using the 133Xenon inhalation technique. In addition, liver volume was determined by 7 independent investigations using a 99mTechnetium-sulfur-colloid scan of the liver. Afterwards, each volunteer received 1,000 mg antipyrine daily for 14 days and all measurements were repeated. After antipyrine administration the antipyrine half-life decreased significantly from 12.5 to 7.7 hours with an increase of the antipyrine clearance from 34.1 to 50.8 ml/min. In addition, glucaric acid, gamma-GT and 6-beta-hydroxycortisol were significantly increased. Liver blood flow increased from 36.8 ml/min/100 g to 50.9 ml/min/100 g liver (p less than 0.02). The liver volume showed a tendency to increase but was significantly higher in only three of the seven volunteers investigated. The mean liver volumes of 1483 g before and 1585 g after antipyrine administration were not significantly different. In contrast, total liver blood flow increased significantly from 590 ml/min before to 809 ml/min after enzyme induction (p less than 0.02).

Notes on American medical history: a follow-up study of the New Haven morphine maintenance clinic of 1920.

From 1918 to 1920, the police department of New Haven, Connecticut, operated a maintenance clinic for morphine addicts. The clinic registered 91 patrons by September 1920, when the facility was closed because of a change in federal narcotics-regulation policies. Death certificates recovered for 40 of the 91 registrants (44 per cent) show that the patrons mean age of death was 55.9 years. Although this age is 13 years younger than the mean age of death of the general population, it is comparable to the death rates for lower socioeconomic groups. The causes of death of the 40 patrons were rarely related to drugs; however, like nonaddicted persons in lower socioeconomic groups, the patrons faced higher risks of alcoholism, infectious diseases, suicide, and accidents. Thus, although many in the group appear to have freed themselves from drug addiction, they continued to face other hazards predisposing them to premature mortality.