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Biomedical subjects

J P Kroustrup

Publications and source records attributed to J P Kroustrup.

12 recordsLinked to original sources

Cushing's disease in childhood as the first manifestation of multiple endocrine neoplasia syndrome type 1.

OBJECTIVE: To describe three cases of Cushing's disease in children with multiple endocrine neoplasia type 1 (MEN1), as clinical manifestations of MEN1 are very rare in childhood. DESIGN AND METHODS: A retrospective review of three cases of Cushing's disease diagnosed between 1997 and 1999. Genetic screening for MEN1 gene mutation was performed in each patient. RESULTS: An ACTH-secreting microadenoma was diagnosed in three children, aged 11-13 years, presenting with growth retardation and weight gain over a period of 3-4 years. All patients had successful transsphenoidal adenomectomies. Primary hyperparathyroidism was subsequently diagnosed in two of the patients, and in the monozygotic twin of one of the patients. A new mutation in the MEN1 gene (Tyr351His) was identified in two of the patients and the affected members of their families. In the third patient a de novo MEN1 gene mutation (Leu444Pro) was found. CONCLUSIONS: MEN1 has to be considered in all children with tumours of the pituitary gland, and in those presenting with primary hyperparathyroidism. The children and their families should be advised to seek genetic counselling. We suggest that careful growth records be kept for children at risk of developing inherited MEN1 and, in the event of a decelerating growth rate, further diagnostic evaluation be undertaken with regards to ACTH-secreting pituitary tumours.

Adenoma↗

[Treatment of morbid obesity with laparoscopic, adjustable gastric banding. Results after two years of experiences with a new surgical method for severe obesity].

INTRODUCTION: In the last decade, laparoscopic, adjustable silicone gastric banding for morbid obesity has gained widespread use, owing to two important improvements: The surgical procedure can be performed laparoscopically and the weight loss can be regulated by adjusting the silicone band by a simple percutaneous technique. MATERIAL AND METHODS: Over a 2-year period, we followed up 33 patients admitted to the clinic for morbid obesity. Sixteen patients preferred the conventional diet treatment (1), seven patients underwent an operation (2), and ten patients were motivated for operation, but were found to be unfit and were treated by diet (3). RESULTS: The excess loss of body weight was 25% in group 1, 60% in group 2, and 0% in group 3. CONCLUSION: Laparoscopic, adjustable gastric banding can help the severely obese patients when diets and pharmacological treatment have failed. The resulting loss of weight is highly dependent on careful follow-up by a professional obesity team.

Adult↗

Estimating the number of complex particles using the ConnEulor principle.

An unbiased counting rule for the number of topologically simple objects of any shape, size and distribution in 3D space is a pertinent problem in stereology. Combining the disector principle with the object's 3D Euler number makes possible number estimation, which until now has been obtainable only by exhaustive serial sections. The disector is a set of two sections where the object's profiles in one section are compared with its profiles on the neighbouring section, and the number of new 2D topological events is recorded. In a disector of known volume the sum of topological events is a direct estimate of the disector contribution to the total Euler number, which forms the basis for an ultimate number estimator in 3D, the ConnEulor. The method is illustrated by an electron microscopic study of the number of mitochondria in the exocrine cells of the pancreas.

Animals↗

Rapid MEN 2A gene carrier identification using primer-specific PCR amplification.

DNA testing is of great importance in families with multiple endocrine neoplasia (MEN) type 2A to identify non-mutant carrying family members and asymptomatic mutation carriers, and also to confirm the diagnosis in patients who already show clinical or biochemical signs of disease. Several point mutations of the RET proto-oncogene on exons 10 and 11 are associated with the disease, which is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. The aim of the present study was to develop and evaluate a simple method, which indicates the mutational status of members of families where the site of the point mutation is known. The method is illustrated by the detection of mutation TGC-->TAC of codon 611, which is one of the well-known mutations associated with MEN 2A. The method involves the PCR technique with allele-specific primers and detection of the amplified sequences with biotinylated probes. There was a clear-cut difference between the readings from affected and unaffected subjects. The subjects had been evaluated independently and all subjects harboring the mutation also had clinical disease. The method provides a simple and reliable diagnostic tool for DNA screening of members of families with a known mutation of the RET-gene.

Biotin↗

Stereological analysis of three-dimensional structure organization of surfaces in multiphase specimens: statistical methods and model-inferences.

In a multiphase material the structural components or phases are everywhere in contact with each other. The relative area of surface contact between various phases is an important aspect of the short-range ordering or organization of the structure. The stereological quantitation of such specific interfaces is a simple and well-known technique. The proper statistical definition of realistic models for the frequency of contact and the quantitative estimation of phase-specific affinities is studied. The meaningful interpretation of sets of estimated affinities poses a major problem of statistical inference which is dealt with in detail and illustrated by a worked-out biological example.

Animals↗

Solid and papillary epithelial neoplasm of the pancreas presenting as a traumatic cyst. Case report.

A 16-year-old girl presented with a left-sided abdominal mass following blunt trauma. Clinically and ultrasonographically a pseudocyst of the pancreas was suspected. Computed tomography demonstrated a moderately vascularized tumour mass in the pancreatic tail, with a central cystic space. Distal pancreatectomy was subsequently performed. Histologic examination revealed a solid and papillary epithelial neoplasm of the pancreas. This is a well-defined clinicopathologic entity, mostly found in young women. Histologic evidence of aggressive behaviour is sometimes seen, and was found in the present case. The prognosis after surgical removal is good, however, which emphasizes the importance of recognizing this rare tumour.

Abdominal Injuries↗

Sampling problems in an heterogeneous organ: quantitation of relative and total volume of pancreatic islets by light microscopy.

In stereological studies analysis of sampling variances is used for optimizing the sampling design. In organs with a heterogeneous distribution of the phase of interest the analysis of sampling variances can be undertaken only if the observed variance between sections is distributed into the fraction which is due to random variation and the fraction which is due to the heterogeneity. In the present example (pancreatic islet volume estimated by light microscopic point-counting) the density of islets showed a linear increase along the axis of the organ. By analysis of sampling variances it was calculated that the most efficient number of sections (cut perpendicular to the organ) was considerably lower when the isolated contribution from the random variation was considered. The total islet volume was obtained by the product of the fractional islet volume and the pancreatic weight. Analysis of sampling variances of the total islet volume was performed by including the variance contribution from the individual pancreatic weights to the variance of the group mean total islet volume. Due to a negative correlation between the fractional volume and organ weight the total islet volume in the group of animals was more precisely estimated than the fractional islet volume. The methods used for dealing with the heterogeneity of the organ and for estimating sampling variances of total structural quantities generalize to a large number of stereological studies in biology.

Analysis of Variance↗

Diabetic glomerulopathy. Structural characteristics of the early and advanced stages.

Studies of the glomerular structure in diabetes mellitus have helped to elucidate the basis for some functional abnormalities. The decline in glomerular filtration occurring in many long-term diabetics is a functional disorder of great clinical importance. Quantitative structural studies of the glomeruli in diabetics at different stages of disease are necessary to learn about the development of structural changes leading to the end-stage kidney disease. Preliminary results of a study of glomeruli from long-term diabetics with clinical nephropathy are compared with those obtained in control subjects and in diabetics within the first 5 yr of disease. In the long-term diabetics the peripheral basement membrane thickness was doubled. On the average, mesangial regions occupied nearly 60% of the total tuft volume as compared with 33% in the early stages. A marked accumulation of basement membrane material in the mesengial regions had taken place so that 85% of the total basement membrane material of the tufts (i.e., peripheral basement membrane in the capillary walls plus mesangial basement membrane-like material) was localized within the mesangial regions. In the early stages equal amounts were found at these two different sites. The distribution of the lesions within the kidney is under investigation in a light microscopic study of autopsy material from long-term diabetics with varying degrees of glomerulopathy. The severity of the diabetic glomerulopathy was quantitated separately within the superficial and the deep cortical zones. The results showed that there was no tendency toward increased severity in the deep glomeruli.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Glomerular size and structure in diabetes mellitus. III. Early enlargement of the capillary surface.

The present electron microscopic study shows that the kidney hyperfunction in early diabetes can be due to a significant morphological change: an increased glomerular filtration surface. Applying standard stereological methods, the area of the peripheral wall of the glomerular capillaries was measured in biopsy specimens obtained from 7 patients with early diabetes and 7 controls.--An 80% enlargement of the capillary wall (the surface of the peripheral basement membrane) was found in the diabetics (2p=0.0096). Also the total area of the interface between the tuft and the urinary space was increased by 70% (2p=0.029). Since the thickness of the peripheral basement membrane is known to be unchanged in patients with early diabetes the finding of an increased area of the membrane implies that an increased quantity of basement membrane material is present in these patients. The significance of this phenomenon for the understanding of the metabolism of the basement membrane is discussed, and a working hypothesis is advanced for the pathogenesis of the diabetic microangiopathy.

Basement Membrane↗