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2.
Diabetes Metab ; 41(4): 312-318, 2015 Sep.
Article in English | MEDLINE | ID: mdl-25662841

ABSTRACT

AIM: This study investigated the association between intermittent hypoxia and glycaemic control in patients with uncontrolled type 2 diabetes (T2D) not treated for sleep apnoea. METHODS: This was a single-centre cross-sectional study of stable patients with T2D and HbA1c ≥7% (53 mmol/mol). Patients underwent overnight pulse oximetry and, if intermittent hypoxia-defined by a 4% oxyhaemoglobin desaturation index ≥15-was observed, respiratory polygraphy was performed. All participants completed the Pittsburgh Sleep Questionnaire and Hospital Anxiety and Depression Scale. The association between intermittent hypoxia and poorer glycaemic control (defined by an HbA1c level above the median of 8.5%) was estimated by multivariate logistic regression analysis. RESULTS: Out of 145 patients studied, 54 (37.2%) had intermittent hypoxia (with sleep apnoea confirmed in 53). Patients with intermittent hypoxia had 0.7% (7.7 mmol/mol) higher median HbA1c levels than patients without intermittent hypoxia (P=0.001). Intermittent hypoxia was associated with poorer glycaemic control after adjusting for obesity, age at onset and duration of diabetes, insulin requirement, sleep quality and depressive mood (OR: 2.31, 95% CI: 1.06-5.04, model adjusted for body mass index; OR: 2.46, 95% CI: 1.13-5.34, model adjusted for waist-to-height ratio). CONCLUSION: Intermittent hypoxia, a consequence of sleep apnoea, is frequent and has a strong independent association with poorer glycaemic control in patients with uncontrolled T2D.


Subject(s)
Biomarkers , Blood Glucose/metabolism , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/diagnosis , Hyperglycemia/diagnosis , Hypoxia/complications , Adult , Aged , Biomarkers/analysis , Biomarkers/metabolism , Blood Glucose/drug effects , Cross-Sectional Studies , Diabetes Mellitus, Type 2/blood , Diabetes Mellitus, Type 2/epidemiology , Female , Humans , Hyperglycemia/blood , Hyperglycemia/complications , Hyperglycemia/epidemiology , Hypoxia/blood , Hypoxia/diagnosis , Hypoxia/epidemiology , Male , Middle Aged , Oximetry , Polysomnography , Prognosis , Sleep Apnea Syndromes/blood , Sleep Apnea Syndromes/complications , Sleep Apnea Syndromes/diagnosis , Sleep Apnea Syndromes/epidemiology , Young Adult
3.
Rev. esp. anestesiol. reanim ; 60(10): 576-583, dic. 2013.
Article in Spanish | IBECS | ID: ibc-117193

ABSTRACT

La lesión del nervio laríngeo recurrente es una de las principales complicaciones de la cirugía de tiroides y paratiroides. Cuando esta lesión es bilateral, se produce una obstrucción aguda de la vía aérea con compromiso vital para el paciente. Con la identificación visual intraoperatoria se consigue preservar la integridad nerviosa más frecuentemente que si no se identifica el nervio. Para ayudar a identificarlo, se puede monitorizar el nervio laríngeo recurrente utilizando un tubo endotraqueal electromiográfico. En estos casos resulta fundamental el papel del anestesiólogo, colocando correctamente el tubo endotraqueal electromiográfico, de manera que los electrodos hagan contacto con las cuerdas vocales durante toda la intervención. Además, los resultados de la electromiografía se ven afectados por los bloqueantes neuromusculares, por lo que debemos adecuar la elección y dosis garantizando una profundidad anestésica adecuada. La realización de un protocolo conjunto con el resto de especialistas resulta muy útil (AU)


Recurrent laryngeal nerve injury remains one of the main complications in thyroid and parathyroid surgery. When this injury is bilateral, an acute upper airway obstruction may occur, leading to a potentially life-threatening situation for the patient. The visual identification of the nerve during surgery is the best way to preserve its integrity. However identification of the nerves by means of electromyographic stimuli through electrodes attached to endotracheal tubes could help in decreasing nerve injury. In these cases the experience and role of the anesthetist is essential to correctly place the electromyographic endotracheal tube and ensure that the electrodes are in touch with the vocal cords during the surgery. Moreover, the results of the electromyography can be affected by the neuromuscular blocking agents. Therefore, the choice and dose must be adapted, in order to ensure a suitable anesthetic depth, and adequate response (AU)


Subject(s)
Humans , Male , Female , Neuromuscular Monitoring/methods , Electromyography/instrumentation , Electromyography/methods , Electromyography , Anesthesia , Anesthesia, General/methods , Anesthesia, General , Neuromuscular Blockade/instrumentation , Neuromuscular Blockade/methods , Neuromuscular Blockade , Electromyography/standards , Thyroid Diseases/drug therapy , Thyroid Diseases , Thyroid Function Tests/methods , Thyroid Gland/pathology , Neuromuscular Monitoring , Thyroid Gland , Laryngeal Nerves , Laryngeal Nerves/physiopathology , Laryngeal Nerves/surgery
4.
Rev Esp Anestesiol Reanim ; 60(10): 576-83, 2013 Dec.
Article in Spanish | MEDLINE | ID: mdl-23886448

ABSTRACT

Recurrent laryngeal nerve injury remains one of the main complications in thyroid and parathyroid surgery. When this injury is bilateral, an acute upper airway obstruction may occur, leading to a potentially life-threatening situation for the patient. The visual identification of the nerve during surgery is the best way to preserve its integrity. However identification of the nerves by means of electromyographic stimuli through electrodes attached to endotracheal tubes could help in decreasing nerve injury. In these cases the experience and role of the anesthetist is essential to correctly place the electromyographic endotracheal tube and ensure that the electrodes are in touch with the vocal cords during the surgery. Moreover, the results of the electromyography can be affected by the neuromuscular blocking agents. Therefore, the choice and dose must be adapted, in order to ensure a suitable anesthetic depth, and adequate response.


Subject(s)
Anesthesia , Electromyography , Intraoperative Neurophysiological Monitoring/methods , Parathyroidectomy , Recurrent Laryngeal Nerve Injuries/diagnosis , Recurrent Laryngeal Nerve Injuries/prevention & control , Thyroidectomy , Electromyography/instrumentation , Equipment Design , Humans , Intraoperative Neurophysiological Monitoring/instrumentation , Intubation, Intratracheal/instrumentation
5.
Trauma (Majadahonda) ; 22(2): 74-78, abr.-jun. 2011. tab
Article in Spanish | IBECS | ID: ibc-89975

ABSTRACT

Objetivo: Determinar la presencia y el tipo de lesiones neurológicas del nervio axilar en las fracturas proximales de húmero no intervenidas. Material y método: Estudio prospectivo en 12 pacientes, atendidos en urgencias, diagnosticados de fractura de extremidad proximal del húmero Se realizó exploración física, sensibilidad y fuerza muscular (0-5, escala MRC de fuerza motora) y electromiografía. Resultados: La exploración clínica de la sensibilidad no fue demostrativa y no hallamos trastornos en ninguno de los casos. Todos los pacientes ofrecieron disminución de la fuerza muscular en grados variables Los datos electromiográficos mostraron lesión neurológica en el 75% de los pacientes, siendo el tipo de lesión más frecuente una axonotmesis parcial del nervio axilar. Las lesiones se recuperaron en todos los casos satisfactoriamente. Conclusiones: La presencia de de axonotmesis parciales es más frecuente de lo que muestra la clínica, el mayor porcentaje de lesiones hallado en nuestro estudio posiblemente se deba al hecho de realizar electromiografías a todos los casos independientemente de la clínica neurológica, poniéndose de manifiesto formas lesionales que pasarían desapercibidas (AU)


Objetive: To determine the presence and type of neurological lesions of the axillary nerve in proximal humeral fractures not subjected to surgery. Material and method: A retrospective study was made of 12 patients seen in the emergency room with proximal humeral fractures. A physical examination was carried out with the evaluation of sensitivity and muscle strength (0-5, MRC motor strength scale), and electromyography. Results: The clinical evaluation of sensitivity revealed no alterations in any case. All patients showed diminished muscle strength to one degree or other. The electromyographic data revealed neurological damage in 75% of the subjects - the most common lesion being partial axonotmesis of the axillary nerve. The lesions recovered satisfactorily in all cases. Conclusions: The presence of partial axonotmesis is more common than reflected by the clinical findings. The greater percentage of lesions recorded in our study is possibly related to the fact that electromyography was performed in all cases regardless of the neurological clinical manifestations, revealing lesions that otherwise would not have been detected (AU)


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Humeral Fractures/diagnosis , Humeral Fractures/surgery , Muscle Strength/physiology , Electromyography/methods , Humeral Fractures , Humerus/injuries , Humerus/surgery , Humerus , Prospective Studies , Electromyography/trends , Electromyography , Electrophysiology/methods
6.
Respir Med ; 96(3): 186-92, 2002 Mar.
Article in English | MEDLINE | ID: mdl-11905553

ABSTRACT

Severe alpha1-anti-trypsin (AAT) deficiency implies a high risk of pulmonary emphysema development. The possible relationship between partial deficiencies of this enzyme and bronchial asthma remains controversial. The objective of this study was to ascertain the distribution of AAT phenotypes in a non-selected asthmatic patient population. Across-sectional study on a sample of 111 patients with asthma was carried out. Demographic and clinical variables were collected with serum IgE concentrations, plasma eosinophil number and serum AAT concentrations determined, together with the Pi phenotype. Asthma was mild in 36 (32.4%) patients, moderate in 45 (40.5%) and severe in 30 (27%). No differences were observed in eosinophil count or serum IgE or AAT concentrations among patients with different degrees of severity. Twenty-two (19.8%) asthmatics with deficient phenotypes for AAT were identified, distributed equally in all severity stages of the disease. No significant differences were found in clinical and functional characteristics, or in asthma morbidity between PiMM and PiMS patients or the heterozygote group (PiMS and PiMZ). Eosinophil count and IgE concentrations did not differ significantly between asthmatics with normal phenotype and heterozygotes. In conclusion, the distribution of AAT phenotypes in asthmatic patients did not differ from that found in the general population. Heterozygote phenotypes for the deficiency do not appear to confer greater severity or different clinical expression of asthma in adults.


Subject(s)
Asthma/complications , alpha 1-Antitrypsin Deficiency/complications , Adult , Analysis of Variance , Asthma/immunology , Cross-Sectional Studies , Eosinophils/immunology , Female , Humans , Immunoglobulin E/blood , Male , Middle Aged , Phenotype , Risk , alpha 1-Antitrypsin Deficiency/immunology
7.
Med Oral ; 6(5): 391-6, 2001.
Article in English | MEDLINE | ID: mdl-11694874

ABSTRACT

OBJECTIVE: To investigate the effect of raising a mucoperiosteal flap on trismus and pain after extraction of an impacted lower third molar. STUDY DESIGN: We studied a consecutive series of 218 patients, all of whom underwent removal of an impacted lower third molar. Of the 218 patients, 52 (group A) underwent simple extraction without raising a mucoperiostal flap, 17 (group B) underwent extraction with raising of a mucoperiostal flap but without ostectomy, and 149 (group C) underwent extraction with both raising of a mucoperiostal flap and ostectomy (C). Trismus was evaluated as maximum interincisal distance (MID), determined before surgery and 1 and 5 days after surgery (MID0, MID1 and MID5 respectively). Pain was evaluated on the basis of reported analgesic use, likewise 1 and 5 days after surgery. RESULTS: In group A (no flap), there was no significant diference between MID0 and MID5; however MID1 was significantly lower than MID0. In groups B and C (flap), the difference between MID0 and MID1 was more marked, and in addition MID5 remained significantly lower than MID0. Neither MID0 nor MID5 differed significantly between group B (flap, no ostectomy) and group C (flap plus ostectomy). The proportion of group A subjects reporting analgesic use was significantly lower than the corresponding proportions in groups B and C on both day 1 and day 5, and again there were no significant differences between groups B and C.


Subject(s)
Molar, Third , Pain, Postoperative/etiology , Surgical Flaps , Tooth Extraction/adverse effects , Trismus/etiology , Adolescent , Adult , Female , Humans , Male , Mandible , Middle Aged
8.
Rev Neurol ; 31(2): 147-51, 2000.
Article in Spanish | MEDLINE | ID: mdl-10951672

ABSTRACT

INTRODUCTION: Description of sleep disorders associated to human prion diseases. DEVELOPMENT: The recent advances on pathology, genetics and immunocytochemistry are an outstanding contribution to the knowledge of transmissible spongiform encephalopathies and identification of possible new variants. Despite decades of research, human prion diseases have remained enigmatic in many aspects. Among these, the intricate connection between infectivity and genetics, genotype-phenotype correlation, pathogenesis of brain damage and in some cases its proven dependence on the genotypic combination of a pathogenic mutation and a polymorphism. Regarding this subject we should take into consideration that Fatal Familial Insomnia (FFI) appears as an ideal model situation for answering some of these problems because of its distinctive clinicopathological phenotype based on a specific genotype as well as its transmissibility. This disease has recently enlarged the group of prion diseases. It is linked to a mutation at codon 178 of the prion protein gene, coupled with the methionine codon at position 129, the site of a methionine/valine polymorphism. The clinical aspects of FFI include a peculiar sleep-wake disorder and a autonomic hyperactivity associated with vegetative and hormonal circadian rhythm disregulation, besides cognitive and motor alteration, and it is related to the selective atrophy of limbic part of the thalamus. EEG conventional sleep studies and 24-hour polygraphic recordings can provide proof of early disappearance sleep spindles and the disturbances of sleep, which typify the disease. Epidemiologic, pathophysiologic, and histopathological aspects are also mentioned. Finally we remark the major neurophysiological features of Creutzfeldt-Jakob disease and Morvan's chorea.


Subject(s)
Creutzfeldt-Jakob Syndrome/complications , Prion Diseases/complications , Atrophy/pathology , Creutzfeldt-Jakob Syndrome/diagnosis , Creutzfeldt-Jakob Syndrome/genetics , Electroencephalography , Evoked Potentials/physiology , Humans , Polysomnography , Prion Diseases/diagnosis , Prion Diseases/genetics , Thalamic Nuclei/pathology
9.
Rev. neurol. (Ed. impr.) ; 31(2): 147-151, 16 jul., 2000.
Article in Es | IBECS | ID: ibc-19876

ABSTRACT

Introducción. En este artículo describimos los trastornos del sueño relacionados con las enfermedades priónicas en humanos. Desarrollo. Los recientes avances en patología, genética e inmunocitohistoquimia contribuyen destacadamente en el conocimiento de las encefalopatías espongiformes y en la identificación de nuevas variantes. Tras décadas de investigación, las enfermedades priónicas siguen manteniendo en parte su carácter enigmático. Entre otros aspectos, destacan la relación entre infectividad y genética, la correlación genotipo-fenotipo, la patogénesis del daño cerebral y, en algunos casos, su dependencia respecto a un genotipo caracterizado por una determinada mutación y un polimorfismo genético. En este sentido, el insomnio familiar fatal surge como un modelo ideal para dar respuesta a algunos interrogantes debido a su peculiar fenotipo clinicopatológico, relacionado con un genotipo específico, y a su transmisibilidad. Esta enfermedad se ha incorporado recientemente al grupo de las enfermedades priónicas. Está relacionada con una mutación del codón 178 del gen de la proteína priónica, en presencia de una homocigosis metionina/metionina en el codón 129, posición del polimorfismo metionina/valina. Las características clínicas del insomnio familiar fatal incluyen un deterioro de la vigilia y el sueño, hiperactividad autónoma con desequilibrio de los ritmos circadianos hormonales y vegetativos, así como un deterioro motor y cognitivo, que se relaciona con una atrofia selectiva de la región límbica talámica. Los estudios EEG convencionales de sueño y la monitorización poligráfica durante 24 horas pueden mostrar la desaparición precoz de spindles y las alteraciones características del sueño, tipificando la enfermedad. Los aspectos epidemiológicos, fisiopatológicos e histopatológicos de esta enfermedad también son mencionados. Por último, destacamos las principales características neurofisiológicas de la enfermedad de CreutzfeldtJakob y la corea de Morvan (AU)


Subject(s)
Humans , Thalamic Nuclei , Polysomnography , Prion Diseases , Atrophy , Creutzfeldt-Jakob Syndrome , Electroencephalography , Evoked Potentials
10.
Arch Bronconeumol ; 34(11): 536-40, 1998 Dec.
Article in Spanish | MEDLINE | ID: mdl-9929722

ABSTRACT

BACKGROUND: Population studies indicate that alpha-1-antitrypsin (AAT) deficiency is an under diagnosed disease. Although alpha-1 serum protein is widely known to accompany AAT deficiency, the diagnostic utility of measuring the alpha-1 band to screen for this condition has not been assessed in the literature. SUBJECTS AND METHOD: Electropherograms with alpha-1 band widths under the reference values were collected over a period of 3 months. The Pi phenotype of AAT was identified for these sera by isoelectric point determination. The phenotypes were compared to those obtained for the population of the same geographic area (n = 440). The alpha-1 band reference values were obtained from 73 healthy individuals with no Pi phenotype deficiency. Moreover, the alpha-1 band was also measured for a group of 17 PiZZ deficient patients. RESULTS: We analyzed 7,305 electropherograms. One hundred four individuals (1.4%) without hypoproteinemia had alpha-1 readings below reference (set at 2.3%). The phenotypes in this group were 25 PiMM (24%), 52 PiMS (54%), 13 PiMZ (12.5%) and 5 PiSS 5 (5%). The odds ratios (CI 95%) in comparison with the normal population were, respectively, 0.10 (0.16-0.06); 4.58 (2.97-7.04); 4.35 (2.09-9.04) and 5.51 (1.66-18.16) (p < 10-5 in all cases except PiSS, which was p < 0.05). The levels for PiZZ patients were 1.4% +/- 0.3% (range 1.0%-2.1%). CONCLUSIONS: Three times fewer subjects with a normal PiMM phenotypes are found among individuals with low alpha-1 band serum protein levels, and many more of such individuals are carriers of Z allele heterozygotes. Alpha-1 band readings in patients with AAT deficiency (PiZZ phenotype) have alpha-1 values below reference. Measuring alpha-1 protein is an easy technique, within the expertise of any laboratory, and may be very useful for screening for AAT deficiency in patients with chronic respiratory diseases.


Subject(s)
alpha 1-Antitrypsin Deficiency/diagnosis , alpha 1-Antitrypsin/analysis , Humans , Reference Values , alpha 1-Antitrypsin Deficiency/blood
11.
Eur Respir J ; 10(6): 1327-31, 1997 Jun.
Article in English | MEDLINE | ID: mdl-9192937

ABSTRACT

In the present study, we analysed: 1) prevalence of TB infection and incidence of disease among family contacts of a cohort of patients with TB; 2) differential characteristics of families with microepidemics and families with < or = 1 new case of TB; and 3) efficacy of chemoprophylaxis in this group of contacts. Three thousand and seventy one family contacts of 635 patients with TB were studied. The study consisted of tuberculin skin testing and chest radiography in all cases, and bacteriological studies when active disease was suspected. Contacts were classified as belonging to: families with microepidemics (FME) (those with > or = 2 new cases of TB); families with one new case; and families with with no new cases. Chemoprophylaxis was prescribed in contacts following standard recommendations; all were followed up for 12-18 months. Rates of TB infection and disease among families, as well as the incidence of TB disease between those compliant and noncompliant with chemoprophylaxis were compared. Among the 3,071 contacts, 1,264 (41%) were infected and 176 (6%) had TB. Twenty two families with FME (3%) yielded 55 new cases of TB. The prevalence of infection (excluding the TB cases) was 80% in families with FME, 52% in families with one new case, and 41% in families with no new case (odds ratio (OR) 3.7; 95% confidence interval (95% CI) 2.1-6.5). Sputum smears were positive in 53% of cases in FME and 24% in non-FME families (OR 3.4; 95% CI 1.7-6.5). Bronchial sample cultures were positive in 84% of patients from FME families but in only 40% of those from non-FME families (OR 7.5; 95% CI 3.6-15.8). Chemoprophylaxis was prescribed in 356 contacts, of whom 296 complied and generated only one new case of TB, whilst there were 13 new cases among the 60 who did not comply (OR 81.6; 95% CI 26.7-248.7). This study showed the prevalence of infection and incidence of tuberculosis among family contacts of patients with newly diagnosed tuberculosis to be very high. A small number of families with microepidemics accounted for most new cases of tuberculosis, which were also more infectious. The extremely high risk of transmission in these families, together with the proven efficacy of chemoprophylaxis, justifies prescription of chemoprophylaxis to all their members, regardless of age.


Subject(s)
Family Health , Tuberculosis, Pulmonary/transmission , Adult , Chemoprevention , Cohort Studies , Humans , Isoniazid/therapeutic use , Patient Compliance , Tuberculosis, Pulmonary/diagnosis , Tuberculosis, Pulmonary/prevention & control
12.
Med Clin (Barc) ; 108(10): 361-5, 1997 Mar 15.
Article in Spanish | MEDLINE | ID: mdl-9139141

ABSTRACT

BACKGROUND: The study of contacts of patients with tuberculosis is an important preventive measure which helps to identify the risk factors for contagion, to detect new cases of the disease early and to break the epidemiological chain of transmission. MATERIAL AND METHOD: Three thousand and seventy-one contacts of 635 patients with tuberculosis were studied in our department over a period of 6 years. With the aid of uni- and multivariate analyses we established the importance of different factors in the appearance of tuberculous disease and infection in contacts. RESULTS: There were 1,341 tuberculin positive contacts (44%). The proportion increased in relation to the degree of the relationship and the bacillary density of the index case. A hundred and seventy-six new cases of tuberculosis were diagnosed among the contacts (5.7%). To study the risk factors for contagion, we analyzed the characteristics of 322 patients with positive sputum smears and their 1,623 contacts; 124 new cases were diagnosed among them (124/176; 70%). The most important factors for contagion in the multivariate analysis were the closer relationship (odds ratio [OR] = 8.32; confidence interval [Cl] 95% = 3.9-17.6), greater TST reaction of contacts (OR = 4.43; Cl 95% = 2.5-7.7), presence of more than 10 bacilli per microscopic field in the sputum samples of the index case (OR = 1.97; Cl 95% = 1.1-3.3), male contacts (OR = 1.86; Cl 95% = 1.2-2.7) and those younger than 15 years (OR = 1.58; Cl 95% = 1.01-2.45). Conversely, the sex of the index case and the history of previous tuberculosis in contacts did not influence the contagion. CONCLUSIONS: The study of contacts offers a high yield in the diagnosis of new tuberculosis cases, because the incidence of the disease is much higher than that of the general population. Moreover, it allows the detection of newly infected subjects in whom the application of chemoprophylaxis prevents the development of the disease, and thus the epidemiologic chain of transmission is broken.


Subject(s)
Contact Tracing , Family Health , Tuberculosis, Pulmonary/transmission , Adolescent , Adult , Aged , Child , Child, Preschool , Contact Tracing/statistics & numerical data , Female , Humans , Incidence , Infant , Male , Middle Aged , Prospective Studies , Risk Factors , Spain/epidemiology , Tuberculin Test/statistics & numerical data , Tuberculosis, Pulmonary/diagnosis , Tuberculosis, Pulmonary/epidemiology
13.
Med Clin (Barc) ; 107(6): 211-4, 1996 Jul 06.
Article in Spanish | MEDLINE | ID: mdl-8755448

ABSTRACT

BACKGROUND: Severe alpha-1-antitrypsin (AAT) deficiency is caused by homozygous inheritance of gene Z, and is associated with a high risk of developing pulmonary emphysema. Determination of frequencies of different genes associated with the deficiency (especially S and Z) gives a clue to estimate the number of individuals homozygous PiZZ, carrying a high risk for pulmonary disease, in any given population. PATIENTS AND METHODS: Pi phenotypes of 440 healthy individuals were determined by means of isoelectrofocusing in polyacrylamide gel. Seric values of AAT were determined by immunonephelometry. Mean age of participants was 30 years (range 18-49 yrs.). Results are compared with other published series. RESULTS: Distribution of phenotypes was: PiMM 333 individuals (75%), PiMS 84 (19%), PiMZ 14 (3%), PiSS 4 (0.9%), PiM 3 (0.6%), PiMF 1 (0.2%), PiMP 1 (0.2%). The corresponding gene frequencies were Pi*M 87%, Pi*S 10.4%, and Pi*Z 1.5%. Normal values of AAT (phenotype PiMM) established in our laboratory were 116-232 mg/dl (21-41 micromol/I) (mean +/- 2 SD). According to Hardy-Weinberger equation, expected frequency of PiZZ individuals in our area would be 225 per million. CONCLUSIONS: The frequency of Z gen individuals observed in our study is one of the highest in the Iberian Peninsula, but lower than the frequency in northern Europe. According to these results, AAT deficiency (PiZZ) is not a rare condition in contrast with the small number of patients diagnosed. The gen frequency of the S variant is higher than that of the rest of Europe, and similar to others found in some Spanish populations.


Subject(s)
alpha 1-Antitrypsin/genetics , Adolescent , Adult , Alleles , Female , France , Gene Frequency , Humans , Italy , Male , Middle Aged , Phenotype , Portugal , Spain , United States , alpha 1-Antitrypsin Deficiency
14.
Rev Clin Esp ; 196(6): 378-80, 1996 Jun.
Article in Spanish | MEDLINE | ID: mdl-8767074

ABSTRACT

A description is reported of tuberculosis cases (TBC) with symptomatic laryngeal involvement diagnosed and treated from 1982 to 1994. Twenty-six out of 2,800 (0.9%) patients diagnosed with TBC had laryngeal symptoms. Twelve patients underwent laryngeal biopsy and the disease was diagnosed in 11; the remaining 15 patients were diagnosed on the basis of the typical lesions at laryngoscopy and resolution with specific therapy; in all of them there was a pulmonary TBC associated. The mean time of clinical laryngeal symptoms was five months and the most common symptom was dysphonia. There were factors which increased the risk for TBC in 16 patients (61.5%), alcoholism being the most common symptom in 10 (38%) patients. X-Ray examination revealed bilateral infiltrates or cavitation in 81% of patients. Sputum examination for acid-fast bacilli was positive in 15 (58%) and culture for Mycobacterium tuberculosis was positive in all of them. All patients adhered correctly to the therapeutic regimen and the clinical course was towards healing: no patient had laryngeal carcinoma after one year of follow-up. The incidence of symptomatic laryngeal TBC in our environment is low and usually presents in patients with risk factors, particularly alcoholism, with a long evolution of the disease and associated with extensive pulmonary TBC. The coexistence with laryngeal carcinoma is exceptional; therefore, when the association of laryngeal symptoms and active pulmonary TBC is present it is reasonable to reserve the laryngeal biopsy for those patients with lymph node enlargement, risk factors, or when symptoms persist after a correct therapeutic regime has been instituted.


Subject(s)
Tuberculosis, Laryngeal/diagnosis , Tuberculosis, Pulmonary/diagnosis , Humans , Retrospective Studies
15.
Arch Bronconeumol ; 30(10): 479-84, 1994 Dec.
Article in Spanish | MEDLINE | ID: mdl-7827760

ABSTRACT

Assessment of alpha 1-antitrypsin replacement therapy (AAT) for emphysema. Patient characteristics were analyzed along with the possible side effects of the treatment and its efficacy in maintaining appropriate AAT blood levels. Lung function changes were also studied. The treatment protocol began with 4 weekly intravenous doses of 60 mg/kg AAT (Prolastin) and continued with monthly doses of 240 mg/kg. AAT serum levels were measured before each dose. Every 6 months pulmonary function tests (spirometry, plethysmography and CO transfer) were performed. Thirteen patients (mean age 46 yr) have been studied since 1988. Mean initial FEV1 was 0.79 l. Over 250 doses have been infused with no significant side effects reported. AAT levels before treatment in 3 patients were lower than that considered protective (50 mg/dl). Function tests results indicated stabilization of spirometric values in most cases. Diagnosis of AAT deficiency is delayed considerably, meaning that significant functional deterioration takes place before replacement therapy begins. No side effects of treatment have been observed. Until an appropriate interval between doses has been established, each patient's AAT levels must be monitored.


Subject(s)
Pulmonary Emphysema/drug therapy , Pulmonary Emphysema/etiology , alpha 1-Antitrypsin Deficiency , alpha 1-Antitrypsin/administration & dosage , Adult , Aged , Evaluation Studies as Topic , Female , Humans , Male , Middle Aged , Pulmonary Emphysema/physiopathology , Respiratory Function Tests , Time Factors , alpha 1-Antitrypsin/analysis
17.
Biotecnol. apl ; 8(3): 383-91, 1991. ilus, tab
Article in Spanish | LILACS | ID: lil-124261

ABSTRACT

Se informa la prevalencia de los papillomavirus humano tipos 6, 11, 16, 18 encontrada en una muestra de mujeres con patalogías premalignas y malignas del cervix uterino, así como en algunas muestras de lesiones benignas del mismo tejido. para el diagnóstico viral se empleó la técnica de hibridación de ácidos nucleicos "dot blot" con marcaje radioactivo. Se discuten las características de este método así como las ventajas y desventajas de los dos tipos de toma de muestra del cervis utilizados. raspado y biopsia. Se comenta el valor de prevalencia global encontrada, 86.3 %, así como el patrón de distribución de los 4 tipos virales, y se compara el diagnóstico de un grupo de muestras empleándo simultanemente en ellas el dot blot y el Southern blot, el cual permite además conocer el estado físico en que se encuentra el virus en el genóma humano infestado. Se analiza la relación entre diferentes variables (edad, edad de las primeras relaciones sexuales, número de parejas sexuales diferentes, tipos de contraceptivos usados, edad del primer parto, número de partos, histología de la lesión) con la infección viral en la muestra de mujeres estudiadas


Subject(s)
Humans , Female , Biopsy , Cervix Uteri/injuries , Curettage , Papillomaviridae , Tumor Virus Infections/diagnosis , Tumor Virus Infections/epidemiology , Uterine Cervical Neoplasms/diagnosis
18.
Biotecnol. apl ; 8(3): 383-91, s.f. ilus, tab
Article in Spanish | CUMED | ID: cum-8449

ABSTRACT

Se informa la prevalencia de los papillomavirus humano tipos 6, 11, 16, 18 encontrada en una muestra de mujeres con patalogías premalignas y malignas del cervix uterino, así como en algunas muestras de lesiones benignas del mismo tejido. para el diagnóstico viral se empleó la técnica de hibridación de ácidos nucleicos "dot blot" con marcaje radioactivo. Se discuten las características de este método así como las ventajas y desventajas de los dos tipos de toma de muestra del cervis utilizados. raspado y biopsia. Se comenta el valor de prevalencia global encontrada, 86.3


, así como el patrón de distribución de los 4 tipos virales, y se compara el diagnóstico de un grupo de muestras empleándo simultanemente en ellas el dot blot y el Southern blot, el cual permite además conocer el estado físico en que se encuentra el virus en el genóma humano infestado. Se analiza la relación entre diferentes variables (edad, edad de las primeras relaciones sexuales, número de parejas sexuales diferentes, tipos de contraceptivos usados, edad del primer parto, número de partos, histología de la lesión) con la infección viral en la muestra de mujeres estudiadas (AU)


Subject(s)
Humans , Female , Papillomaviridae , Cervix Uteri/injuries , Tumor Virus Infections/epidemiology , Uterine Cervical Neoplasms/diagnosis , Curettage , Biopsy , Tumor Virus Infections/diagnosis
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