Comparison of mastocytosis with onset in children and adults.

Objective: To compare the incidence, symptomatology and course of mastocytosis with onset in childhood and in adults.

Design: Retrospective study of 101 patients with mastocytosis who were referred from 1980 to 1998.

Patients: Medical records of 65 cases of mastocytosis with onset in childhood and 36 in adulthood were analysed.

Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.

We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22.

Effects of fluticasone propionate inhalation on levels of arachidonic acid metabolites in patients with chronic obstructive pulmonary disease.

Background: In smoking COPD patients the bronchoalveolar lavage (BAL) fluid contains high numbers of inflammatory cells. These cells might produce arachidonic acid (AA) metabolites, which contribute to inflammation and an increased bronchomotor tone.

Aims: To investigate levels of AA metabolites in BAL fluid, before and after inhaled glucocorticoid therapy: fluticasone propionate (FP) 1 mg per day, or placebo.

Extracorporeal perfusion for the treatment of acute liver failure.

Objective And Summary Background Data: Because of the shortage of available donor organs, death rates from liver failure remain high. Therefore, several temporary liver-assisting therapies have been developed. This article reviews various approaches to temporary liver support as well as immunologic and metabolic developments toward a solution for this problem.

Dilemmas in counselling females with the fragile X syndrome.

The dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less severely, females. Affected females have an increased risk of having affected offspring.

Screening with the FMR1 protein test among mentally retarded males.

The fragile X syndrome is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance. The disorder is caused by an abnormally expanded CGG repeat within the first exon of the fragile X mental retardation (FMR1) gene that is associated with shutdown of transcription and absence of the fragile X mental retardation protein (FMRP). Detection of patients and carriers of the fragile X syndrome is done by DNA analysis of the CGG repeat, whereas the FMRP antibody test allows rapid detection of male patients using bloodsmears.

The fragile X syndrome.

The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis.

99mTc-MIBI, 99mTc-tetrofosmin and 99mTc-Q12 in vitro and in vivo.

The aim of this study was to compare uptake of 99mTc-MIBI, 99mTc-tetrofosmin and 99mTc-Q12 in vitro and biodistribution in vivo in rats. In vitro, uptake decreased in the order MIBI-->tetrofosmin-->Q12. Uptake of MIBI and tetrofosmin, but not of Q12, in cultured tumor cells was dependent on the plasma membrane and mitochondrial potential.

Giant esophageal polyp: a clinical and radiological entity with variable histology.

Giant pedunculated esophageal polyps are very rare. They may stay asymptomatic for a long time, and first come to the attention of the patient and the clinician after regurgitation into the mouth. Regurgitation, however, can be dangerous and has been known to lead to asphyxia and death due to closure of the larynx by the polyp mass.

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for diagnosis of this disorder on a large scale in all affected individuals. A screening for the fragile X syndrome has been conducted in a representative sample of 3,352 individuals in schools and institutes for the mentally retarded in the southwestern Netherlands, by use of a brief physical examination and the DNA test.

Cytomegalovirus infections and anti-GM2 antibodies in Guillain-Barré syndrome.

To investigate whether antecedent cytomegalovirus (CMV) infections in patients with Guillain-Barré syndrome are associated with the presence of specific antiganglioside antibodies, acute phase serum samples from 130 patients with Guillain-Barré syndrome and 200 controls were tested. Anti-GM2 IgM antibodies were found more often in patients with Guillain-Barré syndrome with CMV infection (22%) than in patients without the infection (2%) (P = 0.003).

In vitro effect of GF120918, a novel reversal agent of multidrug resistance, on acute leukemia and multiple myeloma cells.

Resistance to chemotherapy in multiple myeloma (MM) and acute myeloid leukemia (AML) is frequently caused by multiple drug resistance (MDR), characterized by a decreased intracellular drug accumulation. MDR is associated with expression of P-glycoprotein (P-gp). GF120918, an acridine derivative, enhances doxorubicin cell kill in resistant cell lines.

Comparison of uptake of 99mTc-MIBI, 99mTc-tetrofosmin and 99mTc-Q12 into human breast cancer cell lines.

Technetium-99m hexakis-2-methoxyisobutylisonitrile (MIBI), 99mTc-tetrofosmin and 99mTc-Q12 were all introduced for myocardial imaging but found additional applications as they are taken up by different tumours, enabling imaging of these lesions in patients. The aim of this study was to compare the uptake characteristics of these compounds in vitro in the human adenocarcinoma breast cell lines MCF-7 and ZR-75. It was shown that 99mTc-MIBI had the highest cellular uptake (15.

Iodine-131 labelled octreotide: not an option for somatostatin receptor therapy.

Gamma-emitting radiopeptides are useful for scintigraphy of tumours on the basis of receptor binding. Likewise, beta-emitting radiopeptides may be used in radionuclide therapy of such tumours. As iodine-131 suggested to be suitable for this purpose, experiments were performed using three somatostatin analogues, in which the effects of coupling of a therapeutic dose of 131I to such peptides were investigated.

Prognostic value of electrodiagnosis in the Dutch Guillain-Barré study.

In the Dutch Guillain-Barré trial, three EMGs were performed according to a rigid protocol at early stages of the disease in 147 Guillain-Barré patients who were unable to walk independently. Independent locomotion 8 weeks and 6 months after entry were considered to be the outcome measures of most clinical value. Electrodiagnostic data obtained 1 week after entry were concluded to be most important for studying prognostic value.

TdT positive B-cell acute lymphoblastic leukaemia (B-ALL) without Burkitt characteristics.

The leukaemic cells in a 23-year-old man were small to medium-sized lymphoblasts with no cytoplasmic vacuoles and negative with PAS as well with peroxidase and acid phosphatase staining. Cytogenetic analysis showed -6, +12, -22, +mar (6p::22q), resulting in a trisomy 12 and monosomy of the long arm of chromosome 6. Immunological marker analysis revealed that the majority of the blasts was positive for terminal deoxynucleotidyl transferase (TdT) as well as surface membrane immunoglobulin (SmIg, mu, lambda), although B-ALL are supposed to be negative for TdT.