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Biomedical subjects

K Delbecque

Publications and source records attributed to K Delbecque.

15 recordsLinked to original sources
PubMed2002

[Anatomic-clinical confrontation. Large pelvic mass in a young man].

The authors report the case of a gastro-intestinal stromal tumor (GIST) with unusual clinico-pathological features, presenting as a large cystic rectal mass in a young man. The differential diagnosis of pelvic masses is discussed. In light of this case, the recent literature related to the pathogenesis, diagnosis and treatment of GIST is reviewed.

Adult↗
PubMed2001

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

Unbalanced submicroscopic subtelomeric chromosomal rearrangements represent a significant cause of unexplained moderate to severe mental retardation with and without phenotypic abnormalities. We investigated 254 patients (102 from Zürich, 152 from Liège) for unbalanced subtelomeric rearrangements by using fluorescence in situ hybridisation with probes mapping to 41 subtelomeric regions. Mental retardation combined with a pattern of dysmorphic features, with or without major malformations, and growth retardation and a normal karyotype by conventional G-banding were the criteria of inclusion. Selection criteria were more restrictive for the Zürich series in terms of clinical and cytogenetic pre-investigation. We found 13 unbalanced rearrangements and two further aberrations, which, following the investigation of other family members, had to be considered as variants without influence on the phenotype. The significant aberrations included three de novo deletions (two of 1pter, one of 5pter), three de novo duplications (8pter, 9pter, Xpter), one de novo deletion 13qter-duplication 4qter, and five familial submicroscopic translocations [(1q;18p), (2q;4p), (2p;7q), (3p;22q), (4q;10q), (12p;22q)], most of them with several unbalanced offspring with deletion-duplication. Although the incidence of abnormal results was higher (10/152) in the Liège versus the Zürich series (3/102), similar selection criteria in Zürich as in Liège would have resulted in an incidence of 7/106 and thus similar figures. In our series, submicroscopic unbalanced rearrangements explain the phenotype in 13/254 study probands. The most important selection criterion seems to be the presence of more than one affected member in a family. An examination of subtelomeric segments should be included in the diagnostic work-up of patients with unexplained mental retardation combined with physical abnormalities, when a careful conventional examination of banded chromosomes has yielded a normal result and a thorough clinical examination does not lead to another classification. The proportion of abnormal findings depends strongly on selection criteria: more stringent selection can eliminate some examinations but necessitates a high workload for experienced clinical geneticists. Once the costs and workload of screening are reduced, less selective approaches might finally be more cost-effective.

Adult↗
PubMed2001

[Alpha-1-antitrypsin deficiency. An indication for pediatric liver transplantation].

Alpha-1-antitrypsin deficiency is the most common inborn error of metabolism leading to liver transplantation, and the second cause of liver transplantation in children after biliary atresia. The authors report the case of a 6-year-old girl, who was suffering from end-stage liver disease secondary to alpha-1-antitrypsin deficiency. She was successfully treated by whole liver transplantation, the hepatic graft coming from a 3-year-old donor. Three months later she went back to school. The authors discuss the pathogenesis and the natural history of this frequent cause of liver transplantation in children.

Child↗
PubMed2000

[How I investigate...fetal pathology. Technique and value of the fetal and placental examination and the perinatal autopsy].

Fetal pathology is a recent field in pathological anatomy, knowing at the present time an important technical and theoretical development. However, it is still insufficiently used to resolve cases of fetal death in utero, or peripartum or perinatal. In this paper, we describe the basics and the techniques used during the fetal examination. We underline the values of these techniques for the understanding of failures of pregnancy and for orientation of the genetical advice for future pregnancies.

Amniocentesis↗
PubMed2000

[Anatomic clinical case. Septic state in a patient with chronic obstructive lung disease].

Invasive aspergillosis is a mycelial infection, associated in 15 to 30% of cases with a malignant hemopathy or with other types of cancers. It also constitutes a complication induced by high dosage corticotherapy or long term antibiotherapy. On the occasion of an autopsy of invasive aspergillosis, we review the anatomo-clinical entities associated with aspergillus, the etiopathogenic factors and the diagnostic difficulties.

Aged↗
PubMed1999

[Anatomic-clinica dilemma. Case report of renal cell carcinoma].

The authors report the case of a patient with a history of hypertension and multiple intracerebral hemorrhages who was found at post mortem examination to have a renal cell carcinoma. The relationship between renal carcinoma and hypertensive intracerebral hemorrhages is discussed.

Aged↗
PubMed1997

The combined determination of proliferative activity and cell density in the prognosis of adult patients with supratentorial high-grade astrocytic tumors.

Tumor growth represents the ratio between cell gain (number of mitoses per unit of time, i.e., proliferative activity) and cell loss (number of cell deaths during the same unit of time). While in adults, proliferative activity parallels the level of malignancy in astrocytic tumors and therefore represents a useful diagnostic marker, cell loss has never been concomitantly assessed in tumors of this type. We hypothesize that cell density assessable on histologic slides represents the ratio between cell gain and cell loss. This hypothesis concerns only the diffuse type of astrocytic tumors. Proliferative activity (assessed by MIB1 antigen immunostain) and cell density were thus quantitatively assessed by means of a cell image processor in a series of 54 supratentorial astrocytic tumors of adult patients, which included 15 astrocytomas (ASTs), 18 anaplastic astrocytomas (ANAs), and 21 glioblastomas (GBMs). The results show that proliferative activity and cell density were highly correlated (P = .003) and that both correlated with histopathologic grade. The patients with a high-grade astrocytic tumor (i.e., ANA or GBM) that exhibited a low level of proliferative activity but high cell density survived for significantly shorter periods than did patients with a tumor that exhibited low proliferative activity and low cell density (P = .002). The patients with a high-grade astrocytic tumor that exhibited high proliferative activity and high cell density survived for significantly less time than did the patients with a tumor that exhibited high proliferative activity but low cell density (P < .05). A marked difference in survival periods was observed between the patients with a high-grade astrocytic tumor that exhibited a low level of proliferative activity and low cell density and the patients with a tumor that exhibited a high level of proliferative activity and high cell density (P < .001). The concomitant determination of proliferative activity and cell density seems likely to enable determination of the few adult patients who have high-grade astrocytic tumors and who will survive for a considerable period (several years).

Adolescent↗
PubMedDate not supplied

Primary amyloidosis (AL) as a cause of nephrotic syndrome.

AL amyloidosis is a rare systemic disease resulting from tissue accumulation of amyloid fibrils derived from monoclonal immunoglobulin light chains. It can disrupt the tissue architecture and consequently cause organ dysfunction. The prognosis is poor with a median survival of 13 months in untreated patients. By illustrating the case of a patient whose AL amyloidosis was detected after presenting a nephrotic syndrome, the characteristics of the disease are reviewed as well as diagnostic criteria and current available therapeutics.

Amyloidosis↗
PubMedDate not supplied

A case of hepatic alveolar echinococcosis contracted in Belgium.

We report herein the case of a Belgian 76-year-old woman who developed a hepatic tumour suspected to be a breast cancer metastasis. Radiological imaging and guided biopsies were not contributive. The patient underwent an explorative laparoscopy with frozen sections that did not provide further diagnosis, and an open left bisegmentectomy was performed during the same anaesthesia. Histopathological examination of the hepatic mass showed Echinococcus multilocularis metacestodes, demonstrating alveolar echinococcosis. As our patient denied any travel in foreign countries and has undergone regular abdominal ultrasonographies since her mastectomy, it is highly likely that this alveolar echinococcosis had been contracted in Belgium. If some imported cases may be seldom managed in Belgium, to our knowledge, this case is the first occurrence of alveolar echinococcosis contracted in Belgium. This report, added to the demonstration of E. multilocaris infection of 50% of red foxes in Southern Belgium, and the potential infection of domestic cats and dogs, should attract attention of the medical community on the possible outbreak of endemic alveolar echinococcosis in Belgium, and on the related public health concerns.

Aged↗