Desmoplastic infantile ganglioglioma. Morphological, immunohistochemical and genetic features.
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Antigens, CD34↗
Biomedical subjects
J Donat
Publications and source records attributed to J Donat.
Long-term results of high-dose chemotherapy and autologous stem cell rescue for high-risk neuroblastoma patients: a report of the Spanish working party for BMT in children (Getmon).
The authors retrospectively analyzed the long-term outcome of 67 patients over 1 year of age at diagnosis with high-risk neuroblastoma (stage 4 or stage 3 with N-myc amplification) who were treated with megatherapy and stem cell rescue from 1984 to 1998. Median age at transplant was 4 years (range 1.6-15 years). The source of cells was peripheral stem cells in 29 and bone marrow in 38 patients. In 12 patients, an in vitro purging of bone marrow harvest was performed. Most patients were conditioned with melphalan, BCNU, and VM-26. After transplant 19 patients received complementary treatment with IL-2 (16) or 13-cis-retinoic acid (3). Six patients (8%) died from transplant-related toxicity and 39 from disease progression. Three patients were alive with active disease at the time of analysis. Nineteen patients are alive and disease-free at a median follow-up of 104 months. Five-year event-free survival is 0.30. Survival of patients who received a purged graft was not significantly better than the rest. Post-transplant complementary treatment significantly improved overall and event-free survival (p = .01 and p = .04, respectively).
Adolescent↗
Complex rearrangement of chromosomes 6 and 11 as the sole anomaly in atypical teratoid/rhabdoid tumors of the central nervous system.
Atypical teratoid/rhabdoid tumor of the central nervous system is a rare childhood tumor with a distinct histologic appearance and an aggressive clinical course. Few tumors have been analyzed cytogenetically. The only consistent chromosomal abnormality identified in some of these tumors has been monosomy or deletions of chromosome 22; in others, a normal chromosome 22 was present. The authors report an atypical teratoid/rhabdoid neoplasm of the central nervous system with a novel complex rearrangement affecting chromosomes 6 and 11 as the sole anomaly. The involvement of region 11p15 could be important in the pathogenesis of this entity.
Central Nervous System Neoplasms↗
Serum malondialdehyde in HIV-seropositive children negatively correlates with CD4+ lymphocytes count.
Human immunodeficiency virus (HIV) infection is associated with oxidative stress as it has been demonstrated in adult-seropositive individuals. We show in this study that serum malondialdehyde (MDA) concentration of HIV-infected children was significantly higher than in control children. A negative correlation (r = -0.515) was found in HIV-infected children between their CD4+ lymphocyte count, and MDA concentration but not with serum antioxidant status. The increase of MDA concentration in HIV-seropositive children confirms the involvement of oxidative stress in the pathophysiology of this infection also in childhood. Because of the importance of oxidative stress and antioxidants for HIV viral replication, the adequacy of an adjuvant therapy with antioxidants should be considered; an adequate candidate for it could be N-acetylcysteine.
Biomarkers↗
Serum malondialdehyde in HIV seropositive children.
Human immunodeficiency virus (HIV) infection is associated with oxidative stress as it has been demonstrated in adult seropositive individuals. We show in this study that serum malondialdehyde (MDA) concentration of HIV infected children was significantly higher than in control children. Moreover, a statistically significant decreased serum antioxidant status was detected in HIV infected children when compared with controls. No correlation was found in HIV infected children between their clinical or immunological categories, CD4+ lymphocyte count or CD4+/CD8+ ratio, and MDA concentration or serum antioxidant status. Newborn from HIV seropositive mothers had also a higher MDA concentration in cord blood serum than their corresponding controls from HIV seronegative mothers, whereas no difference could be established in the serum antioxidant status between both groups. No apparent correlation could be established between birth weight, gestational age or APGAR test values, and MDA in any of these groups. The results presented, (i.e., the increase of MDA concentration in HIV seropositive infants and children, and the decrease in serum total antioxidants in HIV seropositive children) confirm the involvement of oxidative stress in the pathophysiology of this infection also in childhood. Because of the importance of oxidative stress and antioxidants for HIV viral replication, the adequacy of an adjuvant therapy with antioxidants should be considered; an adequate candidate for it could be N-acetyl-cysteine.
Adolescent↗
Osteoblastic osteogenic sarcoma in a 13-month-old girl.
Osteosarcoma is exceptional in early periods of life. Therefore osteosarcomas involving the bones of the hand are extremely rare. We present a case of an osteogenic sarcoma involving the second metacarpal bone of a 13-month-old girl who has been remaining free of disease, after treatment--radial amputation and chemotherapy pre- and postoperative--, for a period of 10 years in the follow-up.
Amputation, Surgical↗
Neuropharmacological evaluation of movement disorders that are adverse reactions to specific foods.
Three cases are reported of patients who had episodic movement disorders triggered by foods or components of the diet. In the first patient, the movement consisted of shaking the head from side to side that was triggered by milk and a number of other foods. In the second patient, the movement consisted of a repeated shrugging of the shoulders that was triggered by egg and coffee. In the third, the movement consisted of rhythmic contractions of the arms and legs that were triggered by aspartame. The first patient agreed to participate in a study in which she drank 250 ml of skim milk, an amount sufficient to trigger head shaking, after pretreatment with drugs known to alter neurotransmission across beta-adrenergic, dopaminergic, GABAergic or purinergic synapses. At the doses used, propranolol and diazepam had no effect on the milk evoked movement disorder. Levodopa (plus carbidopa) blocked the reaction to milk. Haloperidol, salbutamol and theophylline by themselves triggered a reaction similar to that evoked by milk. These observations suggest that, in susceptible individuals, foods can trigger movement disorders through an action on dopamine and other neurotransmitter pathways in the brain. A videotape of the reactions of the first two patients is available.
Adult↗
Anaemia during pregnancy as a risk factor for infant iron deficiency: report from the Valencia Infant Anaemia Cohort (VIAC) study.
A prospective cohort study with a 1-year follow-up of 156 neonates was carried out specifically designed to test the hypothesis that there is a positive relationship between iron deficiency during pregnancy and the development of the same disease in newborn infants. Exposure was defined as being born of a mother with ferropenic anaemia at delivery, and cases as the infants who developed iron deficiency during their first year of life. A statistically significant positive association was detected with an odds ratio of 6.57 (95% confidence limits 1.81-25.97). A stratified analysis was also performed to control the effect of potential confounders such as socio-economic variables, feeding practices and other factors linked with the iron status of infants. This second analytical procedure showed no alteration in the association detected in the simple analysis but that there was a statistically significant strong interaction between the quantity of cow's milk intake and the ferropenic status of the mother. These results show a relationship between iron deficiency of the mother at delivery and the development of iron deficiency in the infants. These new findings could be important in the development of new prevention programmes applied to pregnant women.
Anemia, Hypochromic↗
Amyotrophic lateral sclerosis in a patient with fragile X syndrome.
Fragile X syndrome is a common cause of mental retardation. We report the clinical and pathologic features of a patient with fragile X syndrome who developed amyotrophic lateral sclerosis (ALS) at a relatively young age. Although the occurrence of these 2 diseases could be a mere coincidence, the development of ALS in this patient might be related to the chromosomal aberration of fragile X syndrome.
Adult↗
[Anemia in acute infectious processes].
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Acute Disease↗
Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association.
An 8-year-old male is presented with clinical findings of Townes syndrome in an otherwise unaffected family. Additional abnormalities possibly representing low frequency associations of this autosomal dominant multiple malformation syndrome included a cardiac defect and hypospadias. Similarities exist between Townes syndrome and VACTERL association, which is generally regarded to be sporadic in nature. Recognition of Townes syndrome as a distinct entity is critical for implementing appropriate management in early childhood, including amplification of hearing impairments. Variable expressivity may occur in this disorder. Careful evaluation must be made, therefore, of the parents of an affected infant with an apparent sporadic case, in order to provide the couple with an accurate recurrence risk at genetic counseling.
Abnormalities, Multiple↗
Computed tomography of the head in the evaluation of microcephaly.
Eighty-five infants and children found to have microcephaly had computed tomographic (CT) brain scans performed. A greater degree of microcephaly correlated with the finding of atrophy or ventricular dilation on CT scan. Patients who had known preceding destructive brain insults had the highest incidence of abnormal findings on scans (20/22). Patients who had CNS dysfunction of unknown etiology had the lowest frequency of abnormal findings (12/33); however, in three of these patients, a previously unsuspected brain malformation was found on CT scan. Patients who had other congenital anomalies had an intermediate proportion of abnormal findings on CT scans (20/30), and in 11 of these scans, a previously unsuspected or only partly suspected brain malformation was diagnosed. Discovering previously unsuspected information or finding supportive data regarding the basis for the underlying disease process, being able to provide a more specific developmental prognosis and accurate genetic counseling, justifies the inclusion of a CT scan of the head in the evaluation of the microcephalic child.
Adolescent↗
[Histiocytosis X: localized and disseminated forms. Apropos of 13 cases].
The authors present a study of 13 patients, between 7 months and 4 years of age diagnosed, of histiocytosis X, nine of them with a disseminated form and 4 with a localized form. The clinical and histopathologic types of presentation are analyzed, applying the usual scores of prognostic evaluation, with emphasis on the low mortality rate (one death), considering that there are several patients with bad prognostic scores. This is explained by the positive effect of chemotherapy used in these cases.
Antineoplastic Combined Chemotherapy Protocols↗
[Granulocyte-macrophage precursor cells in umbilical cord blood].
Authors study growth patterns of granulocytic-macrophagic progenitors in umbilical cord blood of 21 full-term newborns, using collagen gel culture method. Predominantly they obtain pure macrophagic colonies or mixed granulocytic colonies. After 7 days of incubation mean and SD of clusters in 103.22 +/- 75.88, and mean and SD of colonies is 34.26 +/- 23.1. After 14 days clusters falls down until 47.2 +/- 30.48, but colonies goes up to 74.2 +/- 32.78. Lineal regression analysis shows a correlation coefficient of 0.809 between 7 days and 14 days colonies. These results demonstrate the different behaviour between myelopoietic progenitor from umbilical cord blood and same progenitor from adult blood and are probably related to different nature of both progenitors.
Colony-Forming Units Assay↗
[Use of collagen as a support for the in vitro growth of human granulocyte-monocyte precursors (CFU-GM)].
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Bone Marrow Cells↗
[Characteristics of hypophyseal gonadotropic function and the secretion of ovarian sex steroids in the postmenopause period].
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Aged↗
[Characteristics of hypophyseal gonadotropic hormone production and of the pathomorphological picture of the endometrium in hemorrhage in the postmenopause].
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Adenocarcinoma↗