A paediatric case of a TdT positive B-cell acute lymphoblastic leukaemia (B-ALL) without Burkitt characteristics.
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Biomedical subjects
Publications and source records attributed to P Lanzkowsky.
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An 11 year old girl developed progressive upper gastrointestinal ulceration and recurrent episodes of intravenous catheter associated polymicrobial septicaemia. Evaluation failed to establish a cause. After exclusion of the parents and careful surveillance of the patient she improved, supporting the diagnosis of suspected child abuse (a form of Meadow's syndrome).
A 12-year-old girl with acute lymphoblastic leukemia (ALL) had two types of acquired cytogenetic abnormalities in her pretreatment peripheral blood and bone marrow: hyperdiploidy due to tetrasomy 8, 10, and 21; and, in the hyperdiploid cells, a shift from heterozygosity to homozygosity for a polymorphic variant on chromosome 15. Both abnormalities disappeared after chemotherapy, when the patient entered clinical remission. It has recently been found that shifts to homozygosity occur in retinoblastoma and Wilms' tumor. Our observation extends this finding to leukemia and indicates that such shifts may have general importance in tumorigenesis.
Two cases of benign isolated cutaneous histiocytosis X in newborn infants are reported. Clinically, the lesions mimicked chicken pox, and the histologic findings in skin biopsies were indistinguishable from those described in infantile Letterer-Siwe disease. Electron microscopy showed Langerhans' cells with the classical trilaminar, racket-shaped granules. Our cases a well as 10 of the 21 previously reported cases showed spontaneous resolution of the skin lesions. Since this is a benign spontaneous resolving histiocytosis, we recommend that no therapy be given provided that no other signs of systemic involvement are found.
Iron deficiency is the most common nutritional deficiency in children and is widespread in childhood populations throughout the world. Although many sophisticated tests have been devised for the diagnosis of iron deficiency the most reliable criterion of iron deficiency anemia is the hemoglobin response to an adequate therapeutic trial of iron. Following the reticulocytosis peak hemoglobin rises at an average of 0.25 to 0.4 g/dl/day and hematocrit at a rate of 1% per day. If the response to iron falls short of this response other causes of the anemia should be sought by detailed hematologic investigation. In addition to making a diagnosis of iron deficiency anemia it is incumbent on the physician to demonstrate its cause.
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Newborn rats born to iron deficient mothers (IDM) were found to have significantly lower hemoglobin, sucrase, lactase and maltase levels compared to control newborn rats. Rats born to IDM and nursed by IDM, when sacrificed at 21 days of age, had statistically significantly lower hemoglobin, serum iron, sucrase, lactase and maltase levels compared to control rats. Rats born to IDM, but nursed by iron sufficient mothers (ISM) and sacrificed at 21 days of age, had hemoglobin, serum iron and sucrase levels compared to control rats whereas lactase and maltase were not corrected by 21 days of nursing by ISM. Rats burn to IDM and nursed by either IDM or ISM for 21 days were given intramuscular iron dextran and placed on iron sufficient diet (ISD) for 7 days. These animals experienced correction of the hemoglobin, serum iron, sucrase and maltase levels compared to control rats, whereas intestinal lactase was not corrected by 7 days of ISD and intramuscular iron. Rats born to ISM, nursed by IDM and sacrificed on day 21 had significantly lower hemoglobin, serum iron and intestinal lactase levels compared to control rats. Rats both to ISM and nursed by IDM were given intramuscular iron dextran on day 21 and placed on an ISD from day 21-28. These animals had a return in hemoglobin, serum iron, sucrase and maltase levels comparable to control rats. Rats born to and nursed by ISM and maintained on an iron deficient diet from day 21-84 had significantly lower hemoglobin, serum iron, sucrase, lactase and maltase levels compared to control rats. Rats born to and nursed by ISM, maintained on iron deficient diet from day 21-84, and then given intramuscular iron dextran on day 84 and maintained on an ISD until day 92, experienced correction of the hemoglobin, serum iron and lactase levels compared to control rats. Intramuscular iron and 7 days of ISD did not correct the sucrase and maltase levels in these rats. Lactose tolerance tests in iron deficient rats showed flat curves compared to controls. After iron treatment, lactose tolerance curves returned to control values. Iron deficiency in rats in utero, during the nursing and postweaning period causes, in addition to anemia, a reduction in jejunal disaccharidase activity because of an alteration in the enzymes of the brush border membrane. Varying degrees of reduction and response of certain disaccharidases to iron treatment are dependent on the time of iron deprivation in relationship to the intra-uterine and postnatal development of the digestive and absorptive functions in the small intestine. Alterations in the levels of disaccharidases demonstrated in this paper represents another aspect of the spectrum of biochemical effects of iron deficiency.
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Chronic hemolytic anemia in a 7-year-old Chinese boy was found to be associated with decreased activity of erythrocyte hexokinase (approximately 20% of appropriate control values). Alterations in kinetics, stability, pH optimum, or electrophoretic patterns could not be demonstrated with proband hexokinase, but subtle differences between maternal and paternal hexokinase characteristics suggested that two separate mutant isozymes were involved and that the proband was heterozygous for each. Comparisons with previously reported cases of hexokinase deficiency demonstrate the broad genetic heterogeneity that characterizes this disorder.
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Serum alpha-hydroxybutyrate dehydrogenase (alpha-HBDH) levels were determined in 28 children with homozygous sickle cell disease (SCD) during the steady state, crisis, and postcrisis periods. Serum alpha-HBDH levels were also studied in 20 patients with infection. In patients during the steady state, serum alpha-HBDH levels were significantly above control values. During the vaso-occlusive crisis there was a significant further increase in the alpha-HBDH levels. In patients with infection, however, there was no significant increase in serum alpha-HBDH levels. These findings clearly indicate that the level of serum alpha-HBDH in patients with SCD permits differentiation between vaso-occlusive crises, infection, and spurious symptoms.
A group of 47 children with homozygous sickle cell disease ranging in age from 2 to 18 years was studied for the prevalence of gallstones. All of these patients had oral cholecystogram and cholecystosonogram. Eight of the 47 patients (17%) had gallstones both on oral cholecystography and on cholecystosonography. These eight patients had a history of recurrent abdominal pain usually localized to the right upper quadrant. All were admitted on several occasions for sickle cell abdominal crises and four of these were admitted for acute hepatic crisis. These patients have undergone elective cholecystectomy and gallstones were found in every patient. The patients have been followed up from seven to 17 months after cholecystectomy and none have had abdominal symptoms or required hospitalization for abdominal crises.
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Two children who presented initially with a lymphoid malignancy were noted to develop recurrences with myeloid features late in the course of their disease. In both cases, evidence of lymphoid differentiation was present in the myelogenous cells that were Ph1 chromosome negative. The first patient had acute myelogenous leukemia and developed a recurrence with morphologic features of acute myelogenous leukemia. Terminal transferase was present in the myelogenous blasts. The second patient initially had a diffuse lymphoblastic non-Hodgkin lymphoma. During the course of her illness she developed a myeloproliferative disorder characterized by basophilic meningitis, splenomegaly, and hypereosinophilia. Lymphocyte T-cell (E-rosette) markers were present on the eosinophils. These observations lend further support to the hypothesis of varying lymphoid and myeloid differentiation in certain cases of leukemia.
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