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Biomedical subjects

B Gross

Publications and source records attributed to B Gross.

At least 55 records · Page 3Linked to original sources

Unusual appearances of echogenic foci within the fetal heart: are they benign?

Nine fetuses with unusually appearing echogenic foci were selected from a series of 65 fetuses with intracardiac echogenic foci studied at the Fetal Diagnosis and Treatment Unit from January 1994 until February 1996. An echogenic focus or foci were defined as a structure or structures within the fetal heart with echogenicity similar to or greater that that of the surrounding bone. Unusually appearing foci were defined as lesions of unusual size, shape, structure or location. Three fetuses had unusually large echogenic foci, and four had multiple foci in both ventricles. In one fetus, two echogenic foci were very close to each other, creating an impression of a 'double' focus within the left ventricle. In another fetus, three echogenic foci were detected. Follow-up protocol for fetuses with echogenic foci included comprehensive ultrasound, amniocentesis and fetal echocardiography. All studied fetuses had normal karyotype. A fetal echocardiogram failed to reveal congenital heart defects. The neonatal outcome was uneventful in seven out of nine cases; one patient decided to terminate her pregnancy for reasons unrelated to the ultrasound findings, and one delivered prematurely at 34 weeks of pregnancy. In conclusion, we failed to find any correlation between unusually appearing echogenic foci and adverse perinatal outcome.

Echocardiography↗

[Pituitary glycoprotein hormone receptors].

Monoclonal antibodies have been raised against the porcine LH receptor and have allowed to clone the corresponding messenger RNA from testicular cells. The stricture of the LH receptor has been determined. It shows similarities but also differences with other G protein coupled receptors. Specially a large extracellular domain is specific of that new family of receptors. Variant forms of the LH receptor generated by alternative splicing and lacking transmembrane domain have been isolated. Immunochemical and immunocytochemical studies have been performed. Three different forms of the LH receptor are physiologically expressed: a mature 85kDa transmembrane species, a 68 kDa high mannose containing species corresponding to a precursor which accumulates inside the cells, and truncated 45-48kDa molecular weight species corresponding to the variant messenger RNAs identified during the cloning of the receptor. A novel zonation of the ovary has been described by immunocytochemical studies. Cross hybridization with the LH receptor clone allowed to isolate the related TSH receptor from human thyroid tissue. The human LH and FSH receptor genes have been localized to chromosome 2p21 and the TSH receptor gene to chromosome 14q31. The genes are very large (> 60 kbp) and have introns only within the 5' part encoding the extracellular domain of the receptor. Immunoelectron microscopic studies performed in Leydig cells and in stably transfected L cells have allowed to study intracellular traffic of the LH receptor. The same approach was used to study the transendothelial transfer of hCG in testicular microvasculature.

Animals↗

T cell clones from psoriasis skin lesions can promote keratinocyte proliferation in vitro via secreted products.

Psoriasis vulgaris has been recognized lately as an immunologically mediated inflammatory skin disease. To analyze the pathogenetic role of T lymphocytes in the generation of psoriatic skin lesions, 105 T cell clones (TCC) and 10 T cell lines (TCL) were differentially isolated from dermis and epidermis of psoriatic skin specimens. Supernatants prepared from these T cells were studied for their effects on keratinocyte proliferation in vitro. Conditioned media from 14 of 77 epidermal TCC, 7 of which were CD8+, and from 8 of 28 dermal TCC, 5 of which were CD8+, reproducibly enhanced keratinocyte proliferation, with more pronounced mitogenic activities found in dermal TCC. Another 9 epidermal and 3 dermal TCC did not affect keratinocyte growth and supernatants from the remaining clones, as well as from the 5 epidermal and 5 dermal TCL, inhibited keratinocyte replication to varying degrees. Both mitogenic and suppressive activities were largely abolished by addition of an antiserum to interferon-gamma (IFN-gamma), while addition of epidermal growth factor or irradiated psoriatic TCL had little effect on the activities of the supernatants. These studies reveal that a subpopulation of lesional psoriatic T lymphocytes is capable of enhancing keratinocyte proliferation in vitro via secreted products. Their mitogenic capacity most likely requires IFN-gamma, but the ultimate effect is apparently determined by the presence of additional cytokines. Activation of T cells secreting such combinations of factors in vivo may contribute to the keratinocyte alterations characteristic of psoriatic skin lesions.

Cell Division↗

Increase in superoxide dismutase after cerebrovascular accident.

Superoxide dismutase (SOD), neuron specific enolase (NSE) and lactic dehydrogenase (LDH) were measured in the serum and cerebrospinal fluid (CSF) of ischemic cerebrovascular patients, other neurological patients and in age-matched healthy controls (serum only). The levels of SOD in the CSF or serum of the ischemic patients in the first 24 hrs after stroke were similar to the control groups. However, SOD levels in the ischemic patients increased after two days, reaching their peak values after one week (2-3 fold of the initial values). NSE showed a similar kinetics while LDH showed no change. These results suggest that oxygen radicals are formed in the ischemic patients and the increased synthesis of SOD may protect the patients from the potential damage of such radicals.

Aged↗

Fulminant bilateral cerebellar syndrome in a patient with chronic lymphocytic leukemia.

A 55 year old patient with chronic lymphocytic leukemia (CLL) and long-standing excessive lymphocytosis developed a rapidly progressive neurological syndrome. Differential diagnosis focused on two rate neurological complications in this disease: direct brain infiltration by leukemic cells versus progressive multifocal leukoencephalopathy (PML). Tissue diagnosis was not available. Two cerebro-spinal fluid examinations performed during the presence of the acute neurological symptoms were normal. Computed tomography (CT) showed low density lesions without enhancement and no mass effect within the left cerebellum. Magnetic resonance imaging scan (MRI) demonstrated multiple hyperintense areas in the brain stem, right and left cerebellum and right capsula interna, suggestive of demyelinative process. In our opinion these findings were compatible with the diagnosis of PML, but biopsy was not performed. Because of the different therapeutic approach in these two conditions, we feel that tissue diagnosis is warranted in patients with CLL who develop a rapidly progressive central nervous system complication in the presence of normal CSF.

Diagnosis, Differential↗

[LH receptors. A new family of G-protein receptors].

Monoclonal antibodies have been raised against porcine LH receptor and allowed to clone the corresponding messenger RNA from testicular cells. The structure of the LH receptor have been determined. It shows similarities but also differences to other G protein coupled receptors. In particular a large extracellular domain is specific for that family of receptors. Variants forms of the LH receptor generated by alternative splicing and lacking transmembrane domains have been isolated. Immunochemical and immunocytochemical studies have been performed. Three different forms of the LH receptor are physiologically expressed: a mature 85 kDa transmembrane species, a 68 kDa high mannose containing species corresponding to a precursor which accumulate inside the cells, and truncated 45-48 kDa molecular weight species corresponding to the variant messenger RNAs identified during the cloning of the receptor. A novel zonation of the ovary has been described by immunocytochemical studies. Cross hybridisation with the LH receptor clone allowed to isolate the related human TSH receptor from thyroïds. The human LH and FSH receptor genes have been localized to chromosome 2p21 and the TSH receptor gene to chromosome 14q31. The genes are very large and have introns only within their 5' part corresponding to the extracellular domain of the receptor.

Cloning, Molecular↗

Interventional neurology: botulinum toxin as a potent symptomatic treatment in neurology.

Local injections of botulinum toxin is a well-accepted treatment for focal dystonias, hemifacial spasms and strabismus. Its use by skilled neurologists has been reported to be safe and effective. We report our experience with botulinum toxin injections in 108 patients with various central nervous system disorders. Botox was effective in upper face dystonia (86% improvement), spastic dysphonia (92% improvement), platysma muscle spasms and spasmodic torticollis (range of movement 61%, pain and tension 90%). It was also very effective in a few patients with apraxia of eyelid opening, parkinsonian jaw tremor, teeth clenching, palatal myoclonus and adductor leg spasticity. No serious side effects were recorded. Botulinum toxin is a useful symptomatic treatment for many neurological disorders, and one of the leading mode of treatments in the new subspecialty in neurology called "Interventional neurology."

Adolescent↗

Chorea as a manifestation of rheumatic fever--a 30-year survey (1960-1990).

Sydenham chorea, a major manifestation of acute rheumatic fever, has been the most common form of acquired chorea during childhood. Despite the recent dramatic decline in both incidence and severity of rheumatic fever in our area, the frequency of carditis was unchanged. This study investigated retrospectively the incidence of chorea in the last three decades (1960-1990) in our area. During the 30 years of the survey, 28 patients with Sydenham chorea were treated in our centre of whom 10 were seen between 1960-1970, 17 between 1970-1980, and only one patient between 1980-1990.

Acute Disease↗

Fragile X syndrome without CCG amplification has an FMR1 deletion.

We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment. The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences. This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1. We also found random X-inactivation in the mother of the patient who was shown to be a carrier of this deletion.

Adult↗

[LH and TSH receptors. A new family of G protein-coupled receptors].

Monoclonal antibodies have been raised against porcine LH receptor and allowed to clone the corresponding messenger RNA from testicular cells. Cross hybridisation with the LH receptor clone allowed to isolate a clone corresponding to the human TSH receptor from thyroids. The structure of both receptors have been determined. They show similarities but also differences to other G protein coupled receptors. In particular a large extracellular domain is specific of that new family of receptors. Variant forms of the LH receptor lacking transmembrane domains have been isolated. The obtention of monoclonal antibodies against both receptors allowed immunochemical and immunocytochemical studies to be performed. The human LH receptor gene have been localized to chromosome 2p21 and TSH receptor gene to chromosome 14q31. The complete organisation of the human TSH receptor gene has been determined.

Animals↗

[The P300 component of the event-related brain potential in a short-term memory paradigm].

In numerous investigations the P300-component of the event-related-brain-potential (ERP) has proved a valid indicator of memory activities. The present study explores the amplitude of the P300 in an isolated short term memory task with variant difficulties. In two experiments the reproduction of senseless memory material was examined using the categories "syllables" and "consonants". One syllable was thereby synonymous with the so-called "chunk" which represents a subjective unit arising from grouping of memory material. The results show a significant increase in P300-amplitude in a line with memory load in both categories. On the contrary there is no significant difference in the amplitude of P300 between the two categories. These results suggest that the costs for storing one syllable are comparable with those for one consonant.

Adult↗

Composite structure of the human thyrotropin receptor gene.

The exon/intron organization and the structure of the 5' flanking region of the human thyrotropin receptor gene (hTSH-R) were determined. The hTSH-R gene spans more than 60 kb and is split into ten exons. The extracellular domain is encoded by the first nine exons and part of the last exon, whereas the transmembrane and intracellular domains are encoded in totality by the last exon. The leucine-rich repeats of the extracellular domain are encoded as monomers or multimers by separate exons. The TSH receptor gene seems to have arisen by insertion of a DNA sequence encoding repeated leucine-rich elements between the regions encoding the extracellular and the transmembrane domains of a proto-receptor gene ressembling the intronless beta adrenergic receptor genes. Primer extension and S1 mapping experiments identified three transcription start sites. In the hTSH-R gene, the main site was located 157 bp upstream from the start of translation. The promoter region is very GC-rich and contains multiple SP1, ETF and AP2 binding site consensus sequences.

Amino Acid Sequence↗

Molecular cloning and analysis of the fragile X region in man.

The fragile X syndrome (FraX), the most common inherited form of mental retardation, has been located to Xq27.3. As a step in the molecular analysis of this mutation, we have cloned a contiguous 1.8 Mb region containing the entire fragile X region in YAC and cosmid clones. The cloned area defines a region of 50 kb containing a CpG island, found to be selectively methylated in patients expressing the fragile X phenotype. In this 50kb area we have localised the breakpoints of four somatic cell hybrids selected to break at the position of the fragile site. Fluorescence in-situ hybridisation of cosmids flanking this area shows that the breakpoints, the CpG island and the fragile site coincide.

Chromosomes, Fungal↗

The natural family planning--lactational amenorrhea method interface: observations from a prospective study of breastfeeding users of natural family planning.

Methods of natural family planning are sometimes difficult for women to use during lactation. When this is so, the lactational amenorrhea method may prove useful. Researchers agree that a fully breastfeeding woman who is amenorrheic is 98% protected from pregnancy for up to 6 months after delivery. The fertility status of 74 users of natural family planning during the time they would have been protected by the lactational amenorrhea method is examined. Underlying hormonal profiles show that there was little ovarian activity during this time. Eight ovulatory events occurred during the period of protection by the lactational amenorrhea method, of which four fulfilled minimum criteria for adequacy; there were no pregnancies during this period. However, some women did report experiencing fertile mucus symptoms during this time that were often unrelated to estrogen production. Using the lactational amenorrhea method rather than natural family planning allows them to avoid unnecessary abstinence.

Amenorrhea↗