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Biomedical subjects

A Roca

Publications and source records attributed to A Roca.

At least 55 records · Page 3Linked to original sources

[Effectiveness of the partial velopalatine++ resection in obstructive apnea syndrome during sleep. Experience with 57 patients].

BACKGROUND: The aim of this study was to determine the result of partial resection of the soft palate (SPR) as a treatment of the obstructive apnea syndrome during sleep (OASS). METHODS: Fifty-seven patients diagnosed of OASS treated with SPR were studied. The clinical and polysomnographic results prior to surgery and after 6 months were compared. RESULTS: Prior to SPR the 57 patients had a mean index of apnea plus hypopnea per hour of 57 (IAH) and following surgery the same was of 19.2 (p < 0.0001). IAH improved more than 50% in 42 patients (74%), 30 of whom were cured (IAH < or = 10). Daily hypersomnia and snoring disappeared in 58% of the patients and decreased in intensity in most of the remaining cases. The secondary effects observed following SPR were: rhinolalia, nasal fluid reflux, and oropharyngeal disturbances, being present in 32 patients (56%) and permanent, although slight, in only 13 (23%). CONCLUSIONS: Soft palate resection is a good surgical procedure for therapy of obstructive apnea during sleep, with only slight secondary effects.

Adult↗

Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head.

We report the case of a seven-year-old girl with peculiar facial traits who presented for right coxalgia of six weeks' duration. The phenotypic findings corresponded to a trichorhinophalangeal syndrome, type I, and the clinical, radiological and gammagraphic characteristics were indicative of avascular necrosis of the right femoral head, Legg-Perthes-Calvé disease.

Child↗

Localization of the human cystatin D gene (CST5) to chromosome 20p11.21 by in situ hybridization.

The gene coding for cystatin D (CST5), a cysteine proteinase inhibitor, was mapped by fluorescent in situ hybridization to human chromosome 20p11.21. This assignment, together with previous data on mapping of members of the cystatin gene family, indicates that cystatin family II genes are all clustered on the short arm of chromosome 20, whereas cystatin family I and III genes are located on the long arm of chromosome 3.

Chromosome Banding↗

Functional magnetic resonance imaging should be included in the evaluation the cervical spine in patients with rheumatoid arthritis.

OBJECTIVE: To determine the value of functional (flexion) magnetic resonance imaging (MRI) studies in patients with rheumatoid arthritis (RA) suspected of having cervical (C)-spine involvement. METHODS: Four patients with RA suspected of having C spine involvement, with neurological symptoms and/or signs, and who had normal MRI in neutral position, underwent functional MRI. RESULTS: In all 4 patients functional MRI provided additional information. Cord compression (3 patients) and angulation of the cord (1 patient) were evident only in this view. CONCLUSION: Functional MRI provided additional information in these patients and may be indicated in patients with RA suspected of having C spine involvement who have a normal MRI study in a neutral position.

Arthritis, Rheumatoid↗

Modification of system A amino acid carrier by diethyl pyrocarbonate.

Sodium-dependent alanine transport in plasma membrane vesicles from rat liver was inactivated in a time- and concentration-dependent fashion by prior treatment of membranes with the acylating reagent diethyl pyrocarbonate (DEPC). Both components of Na+/alanine cotransport (systems A and ASC) were inhibited. Exposure of vesicles to p-bromophenacyl bromide and methyl p-nitrobenzenesulfonate, which share with DEPC reactivity against histidine residues, also led to inhibition of alanine transport through systems A and ASC. The presence of Na+ (100 mM NaCl) and L-alanine (10 mM) during exposure to vesicles to DEPC protected against inactivation of system A (but not system ASC) transport activity. This protective effect was specific and required the presence of L-alanine since the presence of L-phenylalanine alone (10 mM) or L-phenylalanine plus Na+ (100 mM NaCl) did not cause any detectable protection. This overall pattern of protection is opposite to that previously found against specific sulfhydryl reagents (i.e. N-ethylmaleimide), where protection of system ASC was nearly maximal. The pH profile for DEPC-dependent inhibition of system A transport activity suggests modification of amino acid residue(s) with a pKr of approximately 7, most likely histidine(s), in close parallel with the pH dependence of system A transport activity. Our results suggest the presence of critical histidine residues on the system A carrier that may be responsible for the pH dependence of system A transport activity.

Alanine↗

Sensitivity of system A and ASC transport activities to thiol-group-modifying reagents in rat liver plasma-membrane vesicles. Evidence for a direct binding of N-ethylmaleimide and iodoacetamide on A and ASC carriers.

1. In the present study we have examined the sensitivity of A and ASC amino-acid-carrier activities in rat liver plasma-membrane vesicles to the thiol-group modifying reagents N-ethylmaleimide (NEM) and iodoacetamide (IA). To this end, the different Na(+)-dependent entities involved in alanine transport were assessed. 2. NEM inactivated Na(+)-dependent alanine transport as a result of the inhibition of both system A and ASC transport activities. The functional sensitivity of system A to NEM was greater than that of system ASC. 3. The presence of L-alanine (10 mM) during the exposure of vesicles to NEM afforded partial protection to system A, but not to the ASC, carrier. This effect was specific, since the presence of L-phenylalanine (10 mM) did not cause any protection. 4. Na+ did not protect A or ASC carriers against NEM inactivation; however, the presence of Na+ (100 mM-NaCl) and L-alanine (10 mM) during the exposure of the vesicles to NEM protected against inactivation of system A and ASC transport activities. The extent of protection was greater in the case of the system ASC transport activity than in the case of the A carrier. 5. IA also diminished Na(+)-dependent alanine transport by inhibition of A and ASC transport activities. Sodium and L-alanine afforded protection to both A and ASC transport activities from the inhibitory action of IA. The extent of protection induced by substrates was similar for both carriers. 6. It is concluded that there is one, or several, free thiol groups in A and ASC carriers, the integrity of which is essential for transport activity. Sensitivity to thiol-group-specific reagents and the pattern of protection with substrates against inactivation is different in A and ASC carriers. That suggests the existence of topological dissimilarities regarding the thiol-group containing site(s) in A and ASC amino acid carriers.

Alanine↗

Direct repair of spondylolysis.

Fifteen patients with spondylolysis have received compression screw and bone graft treatment for repair of this defect. In all but one case, solid fusion of the pars defect was achieved within six months after surgery. After one year, 13 of the 15 patients were able to participate fully in sports activities.

Adolescent↗

[Partial resistance to thyroid hormones in a patient with a euthyroid goiter (author's transl)].

This case report deals with a 40 year-old female with goiter, elevated levels of peripheral thyroid hormones without the clinical picture of hyperthyroidism, and an exaggerated response to TSH and TRH. The fact that a feedback conversion appeared after progressive doses of T3 is outlined. Taking into account the elevated T3/T4 ratio, the high rT3, and the fact that all other pituitary hormones remained normal in the presence of increased levels of thyroid hormones, it is concluded that the case was one of incomplete universal resistance of the thyroid hormone receptors. Other individual and familial reported cases are reviewed, and emphasis is made on the fact that the receptors have been normal when studied.

Adult↗

Malignant lymphoma with plasmacytoid differentiation and polyclonal gammopathy.

Two patients are presented with lymphadenopathy, hepatosplenomegaly and infiltration of the bone marrow with plasmocytoid cells in whom an important heterogeneous hyperimmunoglobulinemia was detected (3.18 and 5.85 g/100/ml). Autopsy showed widespread poorly differentiated lymphocytic lymphoma with plasmocytoid differentiation in the first case and a well differentiated lymphocytic lymphoma with plasmocytoid differentiation involving lymph nodes, marrow, spleen, liver and kidney in the second case. High concentrations of IgM and IgG were detected in lymph node and spleen homogenates from this case. After splenectomy and cyclophosphamide the immunoglobulins decreased. It is suggested that both cases had a malignant lymphoma with plasmocytoid differentiation and polyclonal gammopathy.

Aged↗

[Diagnosis and treatment of the phobia due to treatment with air using nasal continuous pressure].

INTRODUCTION: The obstructive sleep apnoea syndrome (OSAS) is characterized by destructured sleep due to repeated episodes of obstruction of the superior respiratory tract during sleep. Treatment by nasal continuous positive airway pressure (n-CPAP) using air is one of the most common forms of treatment of OSAS, although some patients cannot tolerate it. One of the causes of intolerance of n-CPAP is the phobic reaction of some patients. OBJECTIVE: The objective of this study is to show that phobia is one of the causes of n-CPAP not being accepted by OSAS patients and demonstrates the efficacy of treatment by exposure in cases of phobic fear of mask. Patients and methods. We studied six patients with phobic intolerance of CPAP and established the diagnosis of phobia according to the criteria of DSM-IV. Subsequently, they were treated by real-life exposure, one of the behavior techniques most often used for phobic disorders, and consisting of exposure to the feared object under conditions in which escape or avoidance is impossible. CONCLUSION: Following the diagnosis of phobia of the CPAP mask, it was seen that treatment involving real-life exposure was effective.

Aged↗