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Biomedical subjects

B Gasser

Publications and source records attributed to B Gasser.

At least 37 records · Page 2Linked to original sources
PubMed1999

Human bronchial smooth muscle cells in culture produce stem cell factor.

A mast cell infiltration of the bronchial smooth muscle layer has been reported in patients sensitized to common allergens. Stem cell factor (SCF) is a chemotactic and survival factor for mast cells. SCF is expressed as a soluble (sSCF) and a membrane-bound (mSCF) form, after alternative splicing of the exon encoding the proteolytic cleavage site. SCF expression by human bronchial smooth muscle cells in culture was evaluated, comparing it to that of human lung fibroblasts in culture. sSCF released in the culture supernatant was assessed by an enzyme-linked immunosorbent assay. Total SCF messenger ribonucleic acid (mRNA) was measured by competitive polymerase chain reaction (PCR) after reverse transcription. Expression of the two forms of SCF mRNA was assessed by PCR, with primers spanning the alternatively spliced exon. Smooth muscle cells produced sSCF (21.9+/-2.6 pg x mL(-1)), although at lower levels than fibroblasts (35.9+/-3.5 pg x mL(-1)); the expression of total SCF mRNA was also at lower levels than in fibroblasts (8.6+/-0.2 and 19.0+/-2.0 amol x fmol glyceraldehyde 3-phosphate dehydrogenase complementary deoxyribonucleic acid(-1), respectively). However, smooth muscle cells expressed proportionally more (1.7-fold) mSCF mRNA than did fibroblasts. In conclusion, this study shows that bronchial smooth muscle cells express stem cell factor, with a relatively high expression of membrane-bound stem cell factor. This might be related to the presence of mast cells within the bronchial smooth muscle layer, i.e. at the site of bronchoconstriction, with possible implications in the pathophysiology of asthma.

Bronchi↗
PubMed1999

Early fetal megacystis between 11 and 15 weeks of gestation.

OBJECTIVE: The purpose of this study was to evaluate the prognostic criteria of early fetal megacystis. DESIGN: A prospective, transvaginal ultrasound, cross-sectional study at 11-15 weeks of gestation at a tertiary referral fetal medicine unit. SUBJECTS AND METHODS: Sixteen pregnancies out of a total of 5240 were identified with early fetal megacystis. Fetal biometry, morphology, amniotic fluid, bladder size and volume were also evaluated. The karyotype was available in 15 cases. Vesicocentesis was performed in six fetuses and three had concomitant cystoscopies. RESULTS: In six fetuses, the megacystis was isolated. In the remaining ten, we detected associated hygroma (n = 5), nuchal translucency (n = 3), omphalocele (n = 1), mild pyelectasis (n = 1) and bilateral talipes (n = 1). In three cases the fetuses demonstrated renal hyperechogenicity with cysts, and in two cases oligohydramnios was found; four cases (25%) had chromosomal abnormalities; 47, XY + 13 (two cases), 47, XY + 18 and 47, XY + 21. Only one fetus from this study survived. In the remaining 13 cases, termination was proposed after counselling of the patients on the poor prognosis. The mean gestational age at termination was 15.5 +/- 2.4 weeks (range 12-20). Three fetal transabdominal cystoscopies did not allow us to view the valves; one urethral atresia was suspected, and confirmed postnatally. CONCLUSIONS: We found a high rate of associated malformations, especially intestinal malformations. The systematic evaluation of the intestinal enzymes in the amniotic fluid and urine samples might be an important aid in the diagnosis of multiple malformations, such as cloacal dysgenesis.

Abnormalities, Multiple↗
PubMed1999

Repeated inhalation of low doses of cat allergen that do not induce clinical symptoms increases bronchial hyperresponsiveness and eosinophil cationic protein levels.

The aim of this study was to investigate whether repeated exposure to subclinical doses of cat allergens, not inducing asthma symptoms, could affect eosinophil cationic protein (ECP) levels in bronchoalveolar lavage (BAL) or in peripheral blood, without the appearance of clinical symptoms. Twelve patients with mild asthma, all sensitized to cats and not exposed to cat allergen at home, underwent a series of inhalations of cat allergen or placebo for 8 days over 2 weeks. A methacholine challenge was performed before and after the allergen and saline exposures, and BAL and blood were sampled for ECP measurements and eosinophil counts. No patients experienced asthma symptoms. However, PD20 methacholine (geometric mean) decreased significantly from 263 microg before to 126 microg after inhalation of allergen. Inhalation of saline did not induce any significant change in PD20. The change in log PD20 before and after cat allergen exposure was statistically different from the change in log PD20 before and after saline. Median ECP levels in BAL and serum increased significantly after allergen exposure, from 0.8 to 3.1 microg/l (p<0.02) and from 15.9 to 31.4 microg/l (p<0.05), respectively. No change was observed after saline inhalations. The change in BAL and serum ECP levels was statistically significant compared to that in the control group. The number of eosinophils did not change, however, nor did IL-5 and RANTES levels in BAL and serum. In conclusion, our results show that (1) exposure of asthma patients to repeated low doses of allergen, which did not provoke any clinical symptoms, is capable of inducing a local eosinophil activation associated with an increase in nonspecific bronchial hyperresponsiveness and (2) the increase in serum ECP levels due to eosinophil activation precedes the occurrence of asthma symptoms and may thus be a marker of allergen exposure in allergic asthma.

Administration, Inhalation↗
PubMed1999

[Congenital generalized dropsy and intrapericardial fetal teratoma. Report of a case of prenatal diagnosis].

Intrapericardial teratomas are rare tumors usually occurring in early infancy. Such a case was diagnosed in a 20 week old fetus, with a lethal outcome. About fifteen cases of intrapericardial teratoma have been reported in the fetal period. They are usually symptomatic, with a more or less severe pericardial effusion, sometimes complicated by cardiac compression and/or hydrops fetalis. Prognosis of the prenatally diagnosed pericardial teratomas is more related to the occurrence of hydrops fetalis than to the behavior of the tumor itself. The main interest of sonographic ante-natal diagnosis consists of the possible improvement of hemodynamic consequences through in utero pericardiocentesis. Macroscopic and microscopic features of this cardiac tumor are similar to those of extrapericardial teratomas. Most tumors discovered in fetal period are mature and histologically benign lesions. Only one case showed immature components. The coexistence of a malignant component (germ cell or non germ cell tumor) has been described in the postnatal and adulthood.

Adult↗
PubMed1999

Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence.

Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family died 10 hours after birth. A sister of this child was born 1 year later. During pregnancy prenatal diagnosis of hydrocephaly was made by ultrasonographic examination. MRI scan showed holoprosencephaly. At 15 months of age psychomotor development is severely impaired, birth and length are delayed.

Contracture↗
PubMed1999

Hereditary renal adysplasia in a three generations family.

Renal agenesia is one of the more common urinary malformations. Renal agenesia can be unilateral, more frequently, or bilateral. This malformation can be isolated or present with other urinary and/or extra urinary anomalies. We report a family with renal agenesia. The proband was a fetus. Ultrasonographic examination at 15 weeks of gestation showed a left renal agenesia and a right multicystic kidney, absence of bladder and oligohydramnios. The same features were found at 19 weeks of gestation. The couple asked for termination of pregnancy. On pathologic examination the absence of left kidney was confirmed whereas the right kidney which measured 3.5 cm was filled with numerous cysts of 0.2 cm to 1 cm. of diameter and fibrosis. According to the Potter's classification these images are characteristic of a dysplasia type II. There was no hepatic fibrosis. Family history revealed that the mother is in good health, she had previously a normal son. The father had a unilateral renal agenesia which was diagnosed after he had arterial hypertension when he was 25-years-old. The paternal grand father and his brother had unilateral renal agenesia which was shown by screening. This family shows that renal agenesia can be autosomal dominantly inherited and that the expressivity of this anomaly is variable.

Abortion, Induced↗
PubMed1999

[Ovarian metastasis of colorectal adenocarcinomas. A clinico-pathological study of 41 cases].

We report a series of 41 ovarian metastases from colorectal adenocarcinomas. The patients'mean age was 57.1 years at the time the metastasis was discovered, and 55.8 years at the time the primary carcinoma was found. The diagnosis of the primary tumour was anterior to the metastasis in 25 cases (mean interval 21 months), simultaneous in 13 and posterior in 3 others. The metastases formed cystic and solid masses with a mean weight of 330 g. The endometrioid architectural type was the most frequent, either pure (71%, 29/41) or associated with a mucinous component (17%, 7/41). Pure mucinous or other architectural types were rare. The endometrioid type was characterized by glands with a garland pattern, and intraluminal dirty tumoral necrosis. Immunohistochemistry helped to distinguish the metastases of endometrioid type from serous or endometrioid primary ovarian carcinoma; 71% of the former were CK7(-)/CK20(+), and 100% of the latter had the reverse profile CK7(+)/CK20(-).

Adenocarcinoma↗
PubMed1998

A family with dominant oculoauriculovertebral spectrum.

In 1990, Gorlin et al. [Syndromes of the Head and Neck, New York: Oxford University Press, pp 641-649, 707-708] proposed to lump several syndromes together, including facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, Goldenhar syndrome, the first branchial arch anomalies and the first and second branchial arches anomalies. They proposed to use the term oculoauriculovertebral "spectrum." Because there is no agreement on minimal diagnostic criteria the phenotype overlaps many genetic and teratologic syndromes. Most cases are sporadic, but familial instances have also been observed in first-degree relatives. We report on a mother and two of her children who have the oculoauriculovertebral "spectrum." The mother had only auricular anomalies for which she had plastic and reconstructive surgery. Her first child, a girl, had a bilateral cleft lip and palate, a coloboma of upper eyelid, facial asymmetry, and posteriorly angulated ears. This child also had bilateral vesicoureteral reflux. During the second pregnancy fetal ultrasonographic examination performed at 18th week of gestation showed a cleft lip and palate. At the thirty-first week of gestation, club feet, hypoplasia of the left ear, hypoplasia of the left maxillary and mandibular arches, and left microphthalmia were evident. Examination of this fetus confirmed ultrasonographic findings and demonstrated vertebral anomalies. This familial observation confirmed variable expressivity of the oculoauriculovertebral anomaly with isolated microtia (the mother), major malformations (the fetus), and less serious anomalies (the first child) and showed that this condition may be inherited as an autosomal or X-linked dominant condition.

Abnormalities, Multiple↗
PubMed1998

Prenatal diagnosis of Walker-Warburg syndrome in three sibs.

Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterized by diffuse neurodysplasia, resulting in brain and eye abnormalities. We report on 3 prenatally diagnosed cases of this syndrome born to a consanguineous couple. An ultrasonographic examination showed hydrocephalus at the 27th week of the first pregnancy. Amniocentesis documented a normal male karyotype. The couple opted for termination of the pregnancy but declined an autopsy. Seven months later, hydrocephalus was observed at 20 weeks of the second pregnancy. Termination of pregnancy was performed at the 22nd week. Autopsy of this male fetus showed dilated ventricles, thin cortex, and type II lissencephaly with microscopic evidence of chaotic architecture. Eye examination showed retinal dysplasia. Notwithstanding the lack of demonstrable muscle change, the diagnosis of Walker-Warburg syndrome was made. Ten months later, hydrocephalus was discovered in the third fetus, a female, at 13 weeks of gestation. Termination of pregnancy was performed at 20 weeks. At autopsy, brain, eye, and muscular findings were similar to those of the previous case. In addition, cystic changes and a stenosis of the pyelo-ureteral junction were found in the right kidney. Type II lissencephaly and retinal dysplasia are characteristic of WWS. Muscular dystrophy has been pointed out as an additional abnormality in postnatal cases. By contrast, the lack of demonstrable muscle changes in the fetal period must be emphasized. Those cases illustrate practical problems in the ultrasound and pathologic diagnosis of WWS in the fetal period.

Abnormalities, Multiple↗
PubMed1998

Interventional radiology with laser in bone and joint.

Laser energy is able to ablate, coagulate, and vaporize tissues. Its transmissibility in thin optical fibers makes it an ideal tool for use in percutaneous procedures. This article describes two applications in interventional musculoskeletal radiology. In percutaneous laser disc decompression the laser source is used to vaporize a small portion of the nucleus pulposus. In interstitial laser photocoagulation of osteoid osteoma the laser energy is used to coagulate and destroy the tumor by direct heating.

Adolescent↗
PubMed1998

[Bronchopulmonary carcinosarcoma].

INTRODUCTION: Bronchopulmonary carcinosarcoma is an uncommon neoplasm consisting of mixed malignant epithelial and mesenchymal cells. EXEGESIS: We report a case of bronchopulmonary carcinosarcoma in a 62-year-old man illustrating some characteristics of this tumor of poor prognosis and unknown histogenesis. CONCLUSION: Bronchopulmonary carcinosarcoma has clinical and X rays features identical to those of bronchopulmonary epithelial malignant tumors. Most of the authors consider that a totipotential cell might be at the origin of this "mixed" tumor. Although 90% of bronchopulmonary carcinosarcomas are resectable, their prognosis is worse than that of other lung cancers, with a 6-month median survival.

Bronchial Neoplasms↗
PubMed1998

Low-field dedicated magnetic resonance imaging: a potential tool for assisting perinatal autopsy.

Although the practice of perinatal autopsy has increased in recent years, examination of the fetus and especially of the fetal brain during the first trimester or the beginning of the second trimester remains difficult. Postmortem high-resolution images of the brain of a normal and an abnormal fetus of the same gestational age (22 weeks) were obtained with a low-field (0.1 T) dedicated magnetic resonance imaging (MRI) system. We demonstrated that a small MRI machine supplemented data from classical necropsy and may help in the interpretation of in utero ultrasound and magnetic resonance images for the antenatal diagnosis of fetal malformations.

Adult↗
PubMed1998

Placental candidiasis: report of four cases, one with villitis.

Four cases of placental candidiasis, an uncommon complication of rupture of the membranes, are presented. In addition to chorioamnionitis, in one of these cases villitis was also observed. Villitis is a rare occurrence in Candida infection and this represents only the second case in the literature. The involvement of villi may be suggestive of blood-borne infection. However, since neither the mother nor the foetus presented any signs of systemic dissemination, the authors suggest a hypothesis of contamination of the villi from foci of chorioamnionitis.

Adult↗
PubMed1998

Nephrogenesis and angiotensin II receptor subtypes gene expression in the fetal lamb.

To investigate the role of angiotensin II (ANG II) in nephrogenesis, a developmental study of renal AT1 and AT2 receptor mRNA expression was performed in parallel with the quantitative and qualitative analysis of metanephros development in fetal lamb from 60 to 140 days of gestation. Both ANG II receptor subtypes were expressed early during nephrogenesis but displayed specific spatial and temporal distribution during gestation. High-AT2 mRNA expression took place in the outermost nephrogenic area and in the undifferentiated mesenchymal cells surrounding the ampulla; level of AT2 expression in this localization followed closely glomeruli proliferation rate and disappeared after nephrogenesis completion (>120 days). AT2 mRNA was also detected in the differentiated epithelial cells of macula densa of maturing glomeruli. Although most of AT1 mRNA labeling was found in the mesangial cells of maturing glomeruli, where it persisted after nephrogenesis completion, additional labeling was found in undifferentiated cells, in cells invading the inferior cleft of S-shaped bodies (80 days), and in medullar cells between tubules (120 days). Our results suggest that each receptor subtype has a specific role in renal morphogenesis, i.e., AT2 in mesenchymal proliferation or apoptosis and AT1 in vascular smooth muscle cells differentiation.

Animals↗
PubMed1998

Bronchoalveolar carcinoma: histopathologic study of evolution in a series of 105 surgically treated patients.

STUDY OBJECTIVE: The clinical characteristics, histopathologic condition, and outcome of bronchoalveolar carcinoma (BAC) were studied to detect possible prognostic indicators. DESIGN: A retrospective review was conducted of 97 patients who had a curative resection for BAC between 1975 and 1993. PATIENTS: There were 83 men and 14 women with a mean age of 59 years (30 to 75 years). INTERVENTIONS: Resection comprised lobectomy in 84 cases (87%), bilobectomy, pneumonectomy, and a wedge excision. RESULTS: Sixty-two percent of patients were asymptomatic. The radiographic pattern was a solitary nodule in 85% of patients and lobar pneumonitis or diffuse infiltrate in 15%. In 12% of patients, the solitary lesion had been stable for period of 2 to 7 years before diagnosis. The TNM staging of the disease included 71 patients with stage I, 14 with stage II, and 12 with stage IIIA. Review of the gross pathologic features revealed well-circumscribed tumors in 88% of patients and diffuse or multifocal tumors in 12%. Mucinous differentiation was present in 43% of patients, vascular invasion in 22%, and aerogenous spread in 49%. Overall survival was 89% at 1 year, 76% at 2 years, 48% at 5 years, and 39% at 10 years. The survival curves according to histologic features showed a statistically significant difference between diffuse lesions and nodular lesions, between lesions with and without aerogenous spread (diffuse lesions excluded), and between lesions with and without vascular invasion. CONCLUSIONS: The natural history of BAC is especially influenced by its nodular or diffuse nature, vascular invasion, and aerogenous spread.

Adenocarcinoma, Bronchiolo-Alveolar↗
PubMed1998

Sporadic case of dyssegmental dysplasia with antenatal presentation.

Dyssegmental dysplasia is a rare micromelic dwarfism with characteristic clinical and radiological features. In skeletal dysplasias with severe micromelia prenatal detection of affected fetuses is possible using ultrasonography. However, prenatal diagnosis is usually performed after the occurrence of a previous case in the family. In this case dyssegmental dysplasia was detected prenatally in the first child of unaffected related (first cousins) parents. Fetal ultrasonographic examination in the 33rd week of gestation revealed a normal biparietal diameter of 94 mm and pronounced shortening of the extremities with femurs of 19 mm. The femurs were bowed. The spine showed severe malsegmentation. At radiological examination the long bones showed a dumbbell configuration especially in the longer extremities. The spine showed severe malsegmentations including coronal and sagittal clefting and multiple outsize vertebrae. The pelvis had very narrow sacrosciatic notches and rounded iliac wings. This case supports the autosomal recessive inheritance and demonstrates the possibility of prenatal diagnosis in non familial cases in this type of micromelic dwarfism.

Abnormalities, Multiple↗