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Biomedical subjects

B Gasser

Publications and source records attributed to B Gasser.

At least 19 recordsLinked to original sources

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

[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

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

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

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

[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

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

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

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

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

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

Benign hyperplasia in ectopic prostatic tissue: a rare cause of pelvic mass.

Four cases of a pelvic mass due to the development of benign hyperplasia within ectopic prostatic tissue are reported. They presented a hypoechoic homogeneous or heterogeneous pattern on transrectal ultrasonography and a high signal intensity on T2-weighted spin-echo sequences on MR. On CT the density was similar to that of prostatic tissue. No recent imaging findings of this rare entity have been described in the literature. Possible aetiologies are discussed. Even if it is a rare event, the correct diagnosis can be reached. It is important for radiologists to consider the presence of this lesion because of its benign nature.

Aged

Invasive pulmonary aspergillosis with cerebromeningeal involvement after short-term intravenous corticosteroid therapy in a patient with asthma.

The present case report describes a case of invasive pulmonary aspergillosis with cerebromeningeal invasion in an asthmatic non-immunocompromised patient. This fatal complication occurred despite early anti-fungal antibiotherapy after a 2-week course of intravenous corticosteroid therapy for treatment of an exacerbated asthma. Diagnostic and therapeutic procedures are discussed.

Aged

Interstitial laser photocoagulation of osteoid osteomas with use of CT guidance.

PURPOSE: To evaluate interstitial laser photocoagulation (a minimally invasive percutaneous technique of thermal destruction of deep-seated tumors, with low-power laser energy) in local destruction of osteoid osteoma, with computed tomographic (CT) guidance. MATERIALS AND METHODS: Fifteen patients (age range, 8-48 years) with presumed osteoid osteoma were treated with CT-guided interstitial laser photocoagulation of the nidus. A high-power semiconductor diode laser (805 nm) with a 400-microm optical fiber was used. The fiber was introduced into the nidus through an 18-gauge needle. Around the fiber tip, well-defined coagulative necroses from 5 to 9 mm (energy delivery, 400-1,000 J) were obtained. RESULTS: Fourteen patients had complete pain relief, which was apparent within 24 hours in eight patients. One patient had recurrence of pain after 6 weeks. The remaining nidus was treated a second time, with complete relief. Treatment was unsuccessful in one patient, and surgical excision was performed. Daily activities were not restricted after the intervention. All patients were followed up for more than 1 year, with no sign of recurrence. The only notable complication was a mild reflex sympathetic dystrophy of the wrist in one patient. Sclerosis of the nidus was observed 4-6 months after the procedure. CONCLUSION: Percutaneous interstitial laser photocoagulation of osteoid osteoma seems to be a promising, simple, precise, and minimally invasive alternative to traditional surgical and percutaneous ablations.

Activities of Daily Living

Experimental bilateral urinary obstruction in fetal sheep: transforming growth factor-beta 1 expression.

To gain insight into the role of transforming growth factor-beta 1 (TGF-beta 1) in the development of kidney pathology following fetal obstruction, we measured TGF-beta 1 gene expression, the active peptide, and the urinary concentration in a model of fetal bilateral urinary obstruction (BUO) in sheep. Fetal lambs underwent BUO at 60 (FO-60) or 80 days (FO-80) of gestation and were studied at 120 days. Independently of the onset or duration of obstruction, all fetuses developed type IV dysplasia (IV) associated with an arrest in the nephrogenesis or hydronephrosis. Fetal glomerular filtration rate was not significantly modified, whereas sodium tubular reabsorption was significantly decreased, and urinary TGF-beta 1 concentration was elevated in hydronephrosis but not in IV. Levels of TGF-beta 1 mRNA were increased in hydronephrosis compared with normal kidneys, and active TGF-beta 1 immunoreactivity was increased in both hydronephrotic and IV kidneys. In summary, TGF-beta 1 may play a role in the development of hydronephrosis and dysplasia in kidneys following fetal BUO. Its role in the arrest of nephrogenesis observed in the IV kidneys remains to be proved.

Animals

Migratory pulmonary infiltrates in a patient treated with sotalol.

Beta-blockers may induce several types of adverse respiratory reaction such as asthma, interstitial lung disease with or without pleural effusion, systemic lupus erythematosus or hypersensitivity pneumonitis. More recently, bronchiolitis obliterans with organizing pneumonia (BOOP) has been described. We report here on pulmonary migratory infiltrates with combined histopathological features of both BOOP and eosinophilic pneumonia in a woman treated with sotalol long-term. The patient improved only partially with steroids. Tapering off corticosteroid dosage resulted in relapse, and complete recovery was only obtained after sotalol was stopped.

Adrenergic beta-Antagonists