Haploidentical stem cell transplantation in a boy with chronic granulomatous disease.

Chronic granulomatous disease is a primary immunodeficiency caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This causes impaired microbial killing, which leads to severe life-threatening bacterial and fungal infections. Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD. Haploidentical HSCT provides a potentially curative treatment option for patients who lack a suitably HLA-matched donor, but only a few cases have been reported in the literature. Herein, we report a boy with X-linked chronic granulomatous disease treated successfully by haploidentical HSCT with post-transplant cyclophosphamide using a treosulfan-based conditioning regimen.

[Osteosarcoma and ATR-16 syndrome: association or coincidence?]. / Osteosarcoma y síndrome ATR-16, ¿asociación o coincidencia?

ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma.

[Radiological parameters indicating normalization of bone lesions in Langerhans-cell histiocytosis]. / Parámetros de normalización radiológica de las lesiones óseas de histiocitosis de células de Langerhans.

The signs predicting radiological healing were studied in 35 bone lesions of 12 children with Langerhans' cell histiocytosis. The earliest and more frequent radiological signs predicting healing were a decrease in size (52%), the change from a non-sclerotic lesion to one with sclerosis (41%) and the loss of distinct margins of the lesions (29%) three months after diagnosis. The first of these signs was statistically significant after three months of follow-up, the last two after 12 months. The trabecular pattern was a late (one case after 2 years) and infrequent (observed in only 24% of lesions) sign of radiological healing.

[Neuroendocrine changes induced by craniospinal radiation in children with acute lymphoblastic leukemia and medulloblastoma]. / Análisis de las alternaciones neuroendocrinas inducidas por radiación craneoespinal en niños con leucemia linfoblástica aguda y meduloblastoma.

In order to investigate effects produced by external cranial irradiation on neuroendocrine systems. GH secretion (elicited by oral clonidine and by GRF-29 as iv bolus) and TSH and PRL responses to an iv bolus of TRH were evaluated in children previously irradiated for LLA (n-7) or medulloblastoma (n-3). Growth velocity was also periodically evaluated. Three years after radiotherapy, while a normal GH response to clonidine challenge was observed in 60% of cases, growth velocity was impaired in 83.3% of them. GH release induced by GRF-29 was normal in another 60% of patients. Either basal TSH values or its' response to TRH were significantly increased in the three medulloblastomas, in spite of clinical and biochemical euthyroid status of these patients. Our data indicate that cranial radiotherapy produces functional neuroendocrine alterations; specificity and degree of these are dependent on the dose received. Therefore, to allow a suitable replacement hormonal therapy as soon as possible, this type of patients need a periodic evaluation of their endocrine status.

[Habits of alcohol consumption in the child population of Galicia]. / Hábitos de consumo del alcohol entre la población infantil gallega.

An investigation carried out, amongst 1,200 school children of both sexes, between the ages of 5 and 14, in rural and urban areas of Galicia, to find out the amount of alcohol drinkers, shows that 71.6 por 100 of them drink alcohol and 31.3 por 100 are habitual drinkers. Percentages of alcohol drinkers are highest amongst: boys (76% boys to 67.2% girls), children above the age of 11 (84.6%), children working class backgrounds (38.1%, 20.7% 16.6% of children from working class, middle class and upper class respectively). There is no difference in the percentage of drinkers in rural and urban areas, but there is as to the amount of alcohol consumed (the percentage is higher in rural areas than in urban ones). Most alcohol is consumed in the home (92.6% of the children). The most popular drink is wine (83.2%). 27.6% of the children have at time been drunk.

[The tobacco habit among children]. / El hábito del tabaco entre la población infantil.

The authors investigate the level of tobacco consumption in 240 school boys and girls between the ages of 8 and 14 in an urban and semiurban area of Galicia. 29% of the school children in Galicia smoke tobacco and 19.6% are habitual smokers. The greatest percentage of smokers are: males 35.6% boys and 23% girls, between the ages of 12 and 14, children from working class backgrounds and children with lower academic progress. The habit of smoking practised outside the home is associated in a high percentage of cases to the consumption of alcohol (65% of the smokers drink alcohol habitually). The consumption of tobacco is greater in children with parents that smoke. Only 1.25% of the sample smoke marihuana habitually.

[Endocrine function following cranial radiotherapy of neoplasms in children]. / Función endocrina después del tratamiento radioterápico craneal de neoplasias en la infancia.

The effect of radiotherapy upon the diencephalo-hypophyseal axis was studied in 14 children that had received cranial radio-therapy (2,400 to 6,000 R) to treat different intracranial tumors. Several hormones were evaluated between 2 months and 3 years after radiotherapy was performed. 35.7 per 100 of the patients were deficient in growth hormone, 37.5 per 100 showed an alteration of prolactin secretion, and 28 per 100 an abnormal response to thyroid-stimulating hormone.

[Osteosarcoma: 2d malignant tumor following treatment with radiotherapy]. / Osteosarcoma: segundo tumor maligno consecutivo a tratamiento con radioterapia.

The authors report a case of postirradiation osteosarcoma that appeared in a seven year old girl after having received radiation therapy for a soft tissue sarcoma. The latent period between the two malignancies was 5 and a half years and the apparently radiation-induced osteosarcoma developed within the radiation field of the primary tumor.

[Leukoerythroblastosis as a manifestation of disseminated neuroblastoma in childhood]. / La leucoeritroblastosis como manifestación de neuroblastoma diseminado en la infancia.

A check is made of the hematologic disorders in 20 children with neuroblastoma and its relation with the stage of the tumour. The 75% of the patients had metastasis when they are examined, 70% anemia, 15% leukopenia, 20% thrombopenia and 50% leukoerythroblastosis. The patients with leukoerythroblastosis all had remote metastasis and made up 66% of the children with IV or IV-S stage. In 50% of the patients there was metastasis in the bone marrow and 80% of these had leukoerythroblastosis.