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Biomedical subjects

M de Vroede

Publications and source records attributed to M de Vroede.

9 recordsLinked to original sources
PubMed2003

Laparoscopic identification and removal of focal lesions in persistent hyperinsulinemic hypoglycemia of infancy.

BACKGROUND: Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a heterogeneous condition. A number of children have focal lesions, and removal of these lesions is curative. However, these lesions are difficult to detect, even during surgery. A laparoscopic approach is beneficial. METHODS: Two children with PHHI underwent laparoscopic pancreatic inspection at 32 and 29 days of age, respectively. RESULTS: In both children, a lesion was easily found in the head of the pancreas. The lesions looked more lobular, had a more pronounced blood supply, and appeared to have a firmer texture than the remaining pancreas. Enucleation was curative. CONCLUSION: A laparoscopic approach seems to be ideal for patients with PHHI not only because of the magnification but also because of the delicate surgery it allows and the avoidance of major abdominal wall problems.

Congenital Hyperinsulinism↗
PubMed2002

Lung function abnormalities in children with type I diabetes.

Recent developments in intrabronchial administration of insulin raise lung function in patients with type I diabetes as important issue. Several studies in adults report abnormalities of lung function of these patients. The aim of this study was to investigate lung function in children with type I diabetes. Twenty-seven children with type I diabetes performed measurement of airway obstruction (forced flow-volume curves), lung volumes and airway resistance (bodyplethysmography) and of pulmonary carbon monoxide diffusion capacity Mean age (+/- SD) of the children was 12.8 +/- 5 years. Mean time between the detection of type I diabetes and the lung function tests was 5.5 years with a variation from I to 17 years. The total airway resistance (Raw) was significantly higher compared to the reference values (P < 0.001). The other lung function parameters were not significantly different from reference values (P > 0.05). In this relatively small study no relationship between lung function abnormalities and age, the duration of disease or level of HbA1c was observed. Our data show that increase of airway resistance do occur in children withtype I diabetes. Progressive abnormalities in lung function might interfere with the promising results of treatment with intrabronchial administration of insulin.

Adolescent↗
PubMed2001

Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study.

A 13-year-old phenotypically female patient presented with short stature (height SDS -2.6), but without any Turner stigmata or other dysmorphic features. Chromosome analysis showed mosaicism for an isodicentric (idic) (Y)(q11.23) containing cell line and a 45,X cell line. Subsequent gonadectomy revealed a left streak ovary and a right ovary of abnormal appearance, which on histological examination appeared to contain a gonadoblastoma. DNA analysis showed that the proposed critical region of the gonadoblastoma locus on the Y chromosome was contained within the patient's idic (Y). Conclusion. The case described here shows that patients with 45,X/46,X, isodicentric (Yp) mosaicism and a female phenotype (1) can lack external virilisation but still have a gonadoblastoma and (2) do not necessarily have Turner stigmata but can present with only short stature. This case also underlines the importance of karyotyping patients with unexplained short stature to enable gonadectomy if Y-derived material is detected.

Adolescent↗
PubMed2000

[Children with craniopharyngioma, a 'benign' brain tumor with a high morbidity].

The craniopharyngioma is a histologically benign tumour, mainly occurring in childhood. Neurosurgical treatment, in some of these patients in combination with external radiotherapy, results in a fair prognosis for children with craniopharyngioma. However, the central localisation of this tumour in the brain, damage of surrounding structures due to tumour growth, as well as the adverse effects of treatment will result in substantial morbidity in many patients. The first patient, a 13-year-old boy, presented with symptoms and signs of increased intracranial pressure. Following operation he was treated with radiotherapy, and up to 4 years after the operation there was no tumour recurrence. However, he experienced endocrine, visual, hypothalamic and intellectual disturbances due to the disease and its treatment. The second patient, a 6-year-old girl, presented with hydrocephalus due to the tumour, but also had growth retardation. After operation and radiotherapy, she had visual, endocrine, and intellectual dysfunction, but there were no signs of tumor recurrence. The third patient, an 12-year-old boy, already had growth retardation several years before he presented with neurological dysfunction. He received no postoperative radiation, as all tumour tissue could be removed. He had visual, hypothalamic, endocrine and intellectual disturbances but until nearly 6 years after the operation, there was no tumour recurrence. The morbidity due to the tumour and its treatment has a negative impact on the patient's quality of life. A multidisciplinary treatment and follow-up of these children cannot avoid this morbidity but may result in a timely observation of problems and thereby prevent unnecessary damage.

Adolescent↗
PubMed1982

Fanconi's anaemia. Simultaneous onset in 2 siblings and unusual cytological findings.

Fanconi's anaemia is reported in 2 siblings. The simultaneous onset of pancytopenia after possible exposure to common external agents suggest that both a frail genotype and environmental factors may be etiologically involved in the disorder. One of the children died after having developed a monoblastic leukaemia. This patient disclosed very striking cytological abnormalities, including a dyserythropoietic pattern and ropalocytosis. The physiopathology of the latter abnormality, which has hitherto not been noticed in Fanconi's anaemia, is uncertain.

Adolescent↗