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Biomedical subjects

H Nicolas

Publications and source records attributed to H Nicolas.

At least 19 recordsLinked to original sources

[The cost of complicated acute urinary retention: a patient chart analysis in Belgium].

OBJECTIVES: Acute Urinary Retention (AUR) is a troublesome event in patients with benign prostate hyperplasia and often results in adenectomy, associated with increased morbidity and mortality. The objective of this study is to document the current medical practice and resource utilization in AUR, with Belgium as a case setting. METHODS: In this study, a retrospective patient chart review, the 6-month medical resource use of 63 patients hospitalised in 5 different centres with a first episode of AUR and failing a first attempt to remove the catheter (defined as complicated AUR) was recorded and costs were calculated from the public health care payer's perspective. Only direct medical costs (2002 values) were taken into account. RESULTS: The 6 month cost of complicated AUR was Euro 6,766 (St. Err: Euro 491), whereas the cost of hospitalisation for the acute event was Euro 4,722 (St. Err: Euro 526). The cost of a transurethral resection of the prostate (TURP) performed during the index hospitalisation is much higher than the cost of a TURP performed during a subsequent--scheduled--hospitalisation (Euro 6,101 vs. Euro 4,237). CONCLUSIONS: The cost of complicated AUR is quite important. Preventing AUR or improving the medical management of AUR may reduce the number of adenectomies that have to be performed, and thus, may reduce mortality, morbidity and health care costs.

Aged↗

[Recurrent urethral stenosis treated with a Urolome Plus stent implantation: intermediate multicenter follow-up].

We present the medium-term results of 33 patients treated with Urolume Plus urethral stent between August 1990 and June 1996 in 9 Belgian and Luxembourg centers. They all had previous treatments for bulbo-membranous urethral stricture, but without sustained benefit (dilatation, internal urethrotomy, or/and urethroplasty). The mean age of the stricture was 5.4 years (+/- 4). The stent was inserted easily during a short hospitalisation. Median time of follow-up is two years (6 months to 4 years). Maximum flow rate at last follow-up was 20.7 ml/sec (+/- 7), and 83.3% of the patients were satisfied with the stent. In 70% of the cases, the stent achieved its purpose of maintaining a good urethral lumen. In 5 patients (15.15%), stricture recurred inside the stent and in 2 patients (6.06%) a new stricture appeared on another site. Among these 7 patients, 5 were satisfactorily treated by endoluminal resection (4 cases) or dilatation (1 case). There were 2 real failures (= 6%): one patient who has refused any complementary endoscopic treatment and the other one who is still undergoing repeated urethral dilatations. Having respected the right indications for this device, we are satisfied of the results. It is a good alternative after failure of other treatments for bulbar-membranous stricture.

Anesthesia↗

[Urinary stress incontinence and celioscopy: 20-month-experience of an original technique of colposuspension via extraperitoneal endoscopy. "Pantalon technique"].

The authors describe an original extraperitoneal endoscopic colpo-suspension procedure for the treatment of stress urinary incontinence in women, by the use of a Y-shaped non-absorbable mesh (polypropylene). The short Y arms are sutured to the front-lateral walls of the vagina, the Y basis is grasped through a short suprapubic incision involving the skin and subcutaneous fat with a pair of forceps to perforate the muscle aponeurosis. This technique allows an adequate and firm tension on the mesh under endoscopic control. The basis of the mesh is then sutured at the pubic bone insertion of the rectus abdomini. So far, we have performed 28 operations--between April 1995 and December 1996. The objective cure rate is 88.5%. Two laparotomy had to be performed.

Adult↗

[Endoscopic extraperitoneal colposuspension].

The authors point out the advantages and the inconveniences of the different surgical procedures (conventional surgery, transperitoneal celioscopy and extraperitoneal endoscopy) performed in order to treat urinary stress incontinence. An original extraperitoneal endoscopic procedure, using a non resorbable mesh (polypropylene), is proposed. The technique is based on the principle of the open approach described by Burch. The short branches of an Y shaped mesh are sutured at the antero-lateral walls of the vagina. The basis of the Y is pulled out of the extraperitoneal space by using a grasper introduced through a short incision of the skin and the subcutaneous tissues, and perforating the aponeurosis of the rectus muscle. This technique provides the surgeon with an effective and strong tension on the mesh under endoscopic view control. The basis of the mesh is then fixed at the insertion of the rectus muscle on the pubic bone.

Colposcopy↗

Operative experience in hypospadias surgery.

The authors report their experience of the last 50 hypospadias corrections. 30% of the cases were glandular hypospadias. The correction was made by the MAGPI procedure. Thirty per cent of the cases were coronal hypospadias. The Mathieu procedure (meatal-based flap) is compared with the meatallateral flap technique. Twenty-five per cent of the cases were several hypospadias with chordee. The procedures of the tubed-transversal-preputial flap, versus onlay-transversal-preputial flap, are compared.

Adult↗

Original lithotomy positioning for transperineal extracorporeal shockwave lithotripsy for distal ureteric calculi with Tripter X1.

Extracorporeal shockwave lithotripsy (ESWL) has been initially designed for stones located in the kidney and the upper ureter. Our lithotripter is no exception. Its components (the table and the orientation of the semi-ellipsoid reflector) are adapted for the treatment of kidney or lumbar ureter stones. However, the elements forming the unit of treatment (the table, the C-arm and the Tripter) can be modified in such a way that focalization of stones of the lower ureter becomes possible through a perineal exposure. The aim is to avoid the pelvic bone shield while a good focalization of the stone is realized. From June 1989 to March 1991, 35 patients were treated for distal ureteric stones by ESWL in this original positioning.

Adolescent↗

[Ureteroscopic resection of a fibrous polyp of the ureter].

From a new case of fibroepithelial polyp in a 41 year old woman, we reviewed literature on this rare and benign pathology, for which differential diagnosis with malignant tumor is most often obtained surgically. We emphasize both diagnostic and therapeutic advantages of endoscopic approach of this lesion.

Adult↗

Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13.

We describe a family in whom the phenotypically normal father carries a balanced insertional translocation, ins(14;11)(q23;p12p14). This individual fathered three mentally retarded children, two with a del(11)(p13) and one with a dup(11)(p13). Two other cases of a de novo del(11)(p13) are also described. All four del(11)(p13) cases presented with WAGR, a complex syndrome associated with a predisposition to Wilms' tumor (WT), aniridia (A), genitourinary abnormalities (G), and mental retardation (R). Using an approach combining karyotype analysis, determination of the gene copy number, and RFLP studies employing five 11p13 DNA markers, we were able to define the chromosomal rearrangement involved in each case. Analysis of these WAGR deletions provides further subdivision of band p13 on chromosome 11.

Adult↗

[Molecular diagnosis of Duchenne and Becker muscular dystrophies. Current data].

Carrier diagnosis and prenatal diagnosis of Duchenne's muscular dystrophy (DMD) and Becker's muscular dystrophy (BMD) has become possible using some twenty RFLPs detected by more than a dozen Xp21 probes that are either intragenic or flanking the disease locus. Results from familial studies on 88 DMD and BM families stress important considerations concerning a priori and final risks, individuals necessary for the identification of the phase, and the different strategies that can be applied, regardless of whether the study concerns an on-going pregnancy or a carrier-status determination, and whether the patient is at high or low risk. Finally, multiple sources of difficulties in interpreting the results depend on a) the occurrence of new mutations that must be traced; b) the existence of meiotic recombination; c) the necessity, in some instances, of relying upon the sole identification of the paternal X. These considerations emphasize the characteristics and the important limitations of this type of methodology.

Creatine Kinase↗

Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia.

Using cultured trophoblast cells obtained by chorionic villus biopsy, we diagnosed Fanconi anemia (FA) in two pregnancies and excluded it in eight pregnancies at risk for the syndrome. Baseline chromosomal breakage and breakage induced by diepoxybutane (DEB) were analyzed. Increased breakage was used as a marker for the syndrome. Our results were unambiguous and provide a reliable method for prenatal detection of FA in the first trimester of pregnancy.

Anemia, Aplastic↗

Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.

In order to determine the molecular basis of uroporphyrinogen (URO) decarboxylase deficiency responsible for hepatoerythropoietic porphyria (HEP) and familial porphyria cutanea tarda, we used a human URO decarboxylase cDNA to analyze the organization and expression of the URO decarboxylase gene in lymphoblastoid cells from normal individuals and from two patients with HEP. We could detect neither deletions nor rearrangements in the URO decarboxylase gene. Synthesis, processing, and cell-free translation of the specific transcripts appeared to be normal. The half-life of the abnormal protein was 12 times shorter than that of the normal enzyme. The results indicate that the enzyme defect is due to a rapid degradation of the protein in vivo. This study is the first to provide information regarding the molecular mechanism responsible for the URO decarboxylase deficiency in HEP.

Carboxy-Lyases↗

[Prenatal diagnosis of genetic diseases using chorionic villi].

Chorionic villi biopsy allows first trimester prenatal diagnosis of some genetic diseases. In this study the results of 163 diagnoses are presented, and among these, 59 diagnoses of autosomal recessive metabolic diseases with 8 observations of congenital adrenal hyperplasia due to 21 OH deficiency and 6 observations of Fanconi anemia.

Adrenal Hyperplasia, Congenital↗

The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2.

We used cloned cDNA probes for the A alpha-, B beta-, and gamma-chains of human fibrinogen and Southern blotting techniques to analyze DNA from a series of rodent X human somatic cell hybrids for the presence of specific fibrinogen-related sequences. Our results provide evidence for the assignment of the three genes for fibrinogen to chromosome 4. Moreover, by direct gene-dosage determination in two patients with chromosome 4 unbalanced rearrangements, we refined the regional chromosomal assignment to 4q2, thus suggesting that these three genes whose expression is coordinately regulated are closely linked.

Animals↗

Human anti-cytomegalovirus (CMV) immunoglobulins secreted by EBV-transformed B-lymphocytes cell lines.

The in vitro production of human immunoglobulins against cytomegalovirus may have clinical potentials. The attempts to produce human monoclonal antibodies by somatic cell hybridization have been unsuccessful so far. Another approach is to establish B-lymphoblastoid cell lines secreting specific antibodies. Usually such cell lines have been initiated after enrichment of antibody producing B-cells before immortalization by Epstein-Barr virus. We investigated the possibility of establishing lines secreting antibodies neutralizing human cytomegalovirus infectivity by selecting leucocyte donors who have undergone clinical disease which resulted in natural enrichment of antibody producing cells. Two cell lines were established from a patient with a severe post-transfusional CMV syndrome and one cell line from a patient who has continuously shed CMV since renal transplantation 10 years ago. The characterization of the specific immunoglobulin production of these lines will be presented.

Antibodies, Viral↗

[Prenatal diagnosis of inborn errors of metabolism. 155 cases (author's transl)].

The authors' experience of 155 prenatal diagnoses of inborn errors of metabolism shows that such diagnoses cannot be made without an extensive network of laboratories specialized in cell biology and biochemistry. The enzymatic deficiency must also be clearly established in each family at risk, and the value of enzymatic assay techniques must be demonstrated on cultures of skin fibroblasts and amniotic fluid cells. In this series, 126 diagnoses of 25 different autosomal recessive metabolic diseases were made; 23 foetuses were affected. Twenty-nine diagnoses concerned 5 types of X-linked metabolic diseases; since non-obligatory carrier women also had a prenatal diagnosis, the diseases were detected in only 5 foetuses.

Cells, Cultured↗