Terminal deletion of Xp in a dysmorphic anencephalic fetus.

We report an anencephalic fetus with acrania, cervicodorsal rachischisis, and a 46,X,del(X)(p22.1) karyotype. Necropsy revealed a left diaphragmatic hernia, ipsilateral lung hypoplasia, and intestinal malrotation.

[Androgen insensitivity syndrome. Diagnosis and therapy].

Ten patients with complete or incomplete androgens insensitivity syndrome (A.I.S.

Male pseudohermaphroditism due to Leydig cell agenesia and absence of testicular LH receptors.

Objective: The aim of our study was to establish the definitive diagnosis in an adult patient with male pseudohermaphroditism in whom testicular feminization syndrome had been suspected at the age of 8, based on genetic, clinical and pathological studies.

Design: Hypothalamo-hypophysio-testicular function was assessed in vivo. Androgen mechanism of action and testicular gonadotrophin binding were studied in vitro.

Preservation of the amputated canine hind limb by extracorporeal perfusion.

The hind limbs of six dogs were reimplanted immediately after amputation. Another nine were conserved by extracorporeal circulation for 24 h, and then examined histologically. A further six were conserved by the same method and then reimplanted after 24 h.

Curve of perceptive intellectual deterioration in hemodialysis patients.

In order to optimize the results of kidney transplant, i.e. patient's acceptance and speedy recovery, the available organ resources must be combined with appropriate "preparation" of the patient's mental state.

Ambiguous genitalia, gonadoblastoma, aniridia and mental retardation with deletion of chromosome 11.

We describe a patient with ambiguous genitalia, gonadoblastoma, aniridia, mental retardation and 46XY, del (11)(p13) karyotype. To our knowledge this association has been observed in only 2 patients to date.

[Hypoplasia and pulmonary hypertension in Down syndrome: prognostic evaluation using pulmonary biopsy].

The pulmonary hypoplasia, in Down's syndrome with congenital cardiac malformation, probably explains the poor behaviour of these patients, leading to early vascular pulmonary lesions, which progress quickly. We present a case, in which the lung biopsy, done before cardiac surgery, showed a lung hypoplasia and also enabled us to establish the grading of the pulmonary vascular disease. The pathologic evaluation is necessary to decide upon the intracardiac repair and to predict the child's outcome.

Lobar emphysema associated with patient ductus arteriosus and pulmonary obstructive vascular disease.

Three cases of respiratory distress with patent ductus arteriosus are presented. The left-to-right shunt across the ductus arteriosus produced dilated pulmonary arteries and secondary bronchial compression, leading to lobar emphysema. The increase of blood flow across the ductus arteriosus causes structural changes of the wall of the preacinar and intra-acinar arteries.

Orbital metastasis, by transitional cell carcinoma of the bladder.

We report a new case of a patient with transitional cell carcinoma of the urinary bladder and a solitary metastasis to the orbita. A review of the literature shows two cases described previously. This case is interesting for the clinical features and evolution.

[Acute lymphoblastic leukemia in children. Long survivals obtained with protocols C2-72 and D-74 (1972-1977)].

Between 1972-1977, 92 patients with acute lymphoblastic leukemia, between 0 and 14 years of age, were treated with C2-72 and D-74 protocols. Induction treatment consisted of prednisolone (PRED)-vincristine (VCR) with the addition of daunorubicin (prot. C2-72) or asparaginase (prot.

Acute form of visceral leishmaniasis in a 3-month-old infant.

The case of a 3-month-old infant who died with an acute form of visceral leishmaniasis is reported. The liver presented an unusual pattern with widespread patchy cellular necrosis besides marked reticulin proliferation and some fibrosis. The marked systemic histiocytic proliferation contrasted with the paucity of Leishman-Donovan bodies, responsible for the negativity of two bone marrow aspirates and a needle biopsy of the liver.

Brown adipose tissue changes in anencephalic infants. Image analysis study.

Perirenal brown adipose tissue was studied in 49 liveborn anencephalic infants of appropriate weight, whose lifespan ranged from 2 hours to 6 days. An additional series of 187 full-term infants was used as control. Morphological evidence of active and marked BAT lipolysis was found in large number of anencephalic infants suggesting that activation of BAT metabolism leading to lipolysis in the newborn does not depend on a diencephalic pathway but on peripheral mechanisms.

[Treatment of high and low risk acute lymphoblastic leukemias in the child, with 2 modalities of preventive therapy on the central nervous system (Pethema 7/78 protocol)].

More effective therapy of high-risk patients and less toxic CNS prophylaxis are two goals in present acute lymphoblastic leukemia treatment research. Protocol LA A 7/78 was based on: 1) Distribution of patients in 2 therapy groups: standard (SR) and high-risk (HR) according to presence of clinical and hematological prognostic factors. 2) Remission induction in SR with PRED, VCR and ASPAR, and as maintenance, combination of MP and MTX.

[Clinical and occult testicular relapses in children with acute lymphoblastic leukemia. Treated with the D.74 and pethema 7/78 protocols].

The incidence of testicular infiltrates in 68 boys with acute lymphoblastic leukemia in first remission (1974-81), was prospectively investigated through careful clinical exams and routine bilateral biopsies at 2-3 years of remission. All boys were under 14 years of age and they were treated with protocols D.74 and pethema 7/78.

Hypothalamo-hypophyseal-testicular function in prepubertal boys with acute lymphoblastic leukemia following chemotherapy and testicular radiotherapy.

Hypothalamo-hypophyseal-testicular function was studied in twenty-eight prepubertal boys with ALL in clinical and haematological remission. Eighteen were treated with combined systemic chemotherapy (24-36 months) and the other ten, who had testicular leukemic infiltrates, received chemotherapy (38-60 months) and testicular radiotherapy (2 000 rad). Plasma levels of LH and FSH were measured before and after stimulation with LHRH (100 micrograms i.

Testicular infiltrates in children with acute lymphoblastic leukemia: a prospective study.

The incidence of testicular infiltrates in 68 boys with acute lymphoblastic leukemia in first remission (1974-81), was prospectively investigated through careful clinical examination and routine bilateral biopsies at 2-3 years of remission. All boys were under 14 years of age and they were treated with protocols D.74 and Pethema 7/78.

[Juvenile malignant osteopetrosis. Clinico-radiological study of 7 cases].

Clinical and radiological studies of seven patients with autosomic recessive malignant osteopetrosis are presented. Diagnosis was established before the age of 3 months in six cases and at 7 months in one. In all cases the presenting signs were pallor and hepatosplenomegaly with associated neurological involvement in five.

Morphogenesis of pulmonary veno-occlusive disease in a newborn. Image analysis study.

A 9-day-old girl was admitted to hospital because of respiratory distress. The girl died on the 11th day of life shortly after an haemodynamic study and the autopsy disclosed a pulmonary veno-occlusive disease with lesions in relatively early stages of development. Morphological pattern and computerized image analysis data induce to rule out a thrombosis as a previous event to the development of fibrotic changes and point to a "primary" intimal involvement, presumably triggered by an endothelial injury, determining a myxoid change of the intima and leading to a cellular proliferation and ultimate fibrotic occlusion of the small pulmonary veins.

Prenatal development of brown adipose tissue in man. A morphometric and biomathematical study.

In a series of 110 liveborn infants who died within 24 h of birth, and six 14- to 17-week-old fetuses, the development of perirenal brown fat was studied by morphometric and biomathematical methods. Brown fat was present at the 20th week of age and, taking as index of maturity the population of multilocular adipocytes, its development progressed according to a 3-parametric logistic growth function, with a half-time of 26 weeks and a tendency to asymptotic stabilization by the 35th week. Unilocular adipocytes appeared early and their low percentage (10.