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Biomedical subjects

M Bernal

Publications and source records attributed to M Bernal.

At least 19 recordsLinked to original sources
PubMed2000

Co-morbidity in Gaucher's disease results of a nationwide enquiry in Spain.

SHORT INTRODUCTION: Gaucher's disease (GD) is an autosomal recessive disease produced by mutations of the Glucocerebrosidase gene. Carriers are considered to be healthy subjects because there is no manifestation of the disease, but they show signs of macrophage disfunction. The aim of the study was to determine if GD patients and non affected carriers risk suffering other diseases when compared to healthy non-carrier relatives. MATERIAL AND METHODS DESIGN: Epidemiologic study of historic cohorts. The fact that they have one or two mutated alleles has been considered to be the risk factor leading to other conditions (Dementia, Parkinson disease, Ischemic stroke, Ischemic heart disease, Non rheumatic valvular disease, Cancer hematological and non-hematological, Pulmonary fibrosis, Tuberculosis, Gallstones and Schizophrenia). All people, patients, carriers and healthy controls shared the same genetical background and environmental influence. - Patients and relatives enrolled on the Spanish Gaucher Disease Registry were evaluated. STATISTICS: For the Relative-Risk calculation the Mantel-Haenszel test was applied. Yates' correction was used when size sample was too small. A value of p <0.05 was accepted for statistical significance. RESULTS: 370 people, from 79 different families, were surveyed. We received evaluable information from 45 families (56%), totalling 258 people (69%): 59 healthy subjects (Mean age 32. 20, RANGE: 10-85; M 57.63%/F 42.37%), 132 carriers (Mean age 35.91, RANGE: 1-79; M 56.82%/F 43.18%) and 67 patients (Mean age 32.16, Range: 1-76; M 44.78%/F 55.22%. - Relative Risk of suffering any disease with regard to Gaucher's status: Patient vs Healthy 9.69 (95% Confidence interval [CI] 2.00-63.99; p 0.0006). Patient vs Carrier 3.74 (CI 1.53-9.27; p 0.001); Carrier vs Healthy 2.59 (CI 0. 52-12.50; p 0.21). Relative Risk of suffering any disease with regard to sex was 3.96 for female patients (CI 1.01-16.75; p 0.02) and 1.34 for female carriers (CI 0.27-6.75; p = 0.68). CONCLUSION: As a group, Gaucher's patients seem to have a greater risk of suffering other common unrelated diseases than carriers or healthy relatives. This excess of risk is particularly higher among female patients and can not be explained in terms of differences in age. Carrier status doesn't seem to highten the risk of suffering other diseases.

Adolescent↗
PubMed1998

[Which are the true incidence rates of primary hematological disorders acquired in our population?].

PURPOSE: To define demographic and epidemiological characteristics of primary haematological disorders (PMHD) in patients referred to a haematology department in 1,240 beds general hospital. PATIENTS AND METHODS PERIOD OF STUDY: 01/94-12/94. We have performed a study in patients older than 14, to determine the age adjusted incidence rates of PHD in the assigned population: 439,279 inh (M: 210,139; F: 229,140), with a negative-vegetative growth (-1.39/10(3) inh/y). A total of 1,242 new cases was received, 302 of them were diagnosed of PHD. Epidemiological method: incidence rates (IR), age and sex adjusted incidence rates (AIR), truncated standardized incidence rates (TSIR) and confidence interval (CI) were calculated. STATISTICAL METHOD: Normal distribution, descriptive and frequency distribution analysis were performed along with chi 2 test. RESULTS: Demographic data: mean age (+/- SD): 63.54 y +/- 15.81; range 19-92. M/F: 177/125, males mean age 62.85 +/- 16.29, females: 64.52 +/- 15.11. The PHD distribution was: MGUS 84 cases; NHL 57; MDS 33; CLL 26; CMPD 26; MM 21; HD 14; AL 11; ITP 10; CML 9; AIHA 5; hypoplastic anaemia 3; and cryoglobulinaemia 3. AIR (cases/10(5) inhab/y): Consulting rate 261.79. The PHD incidence rate was 31.00 (M: 38.01; F: 25.51). In patients under 60 y the AIR of PMDH was 31.31 (M: 36.42, F: 26.25), and in those older than 60 y the AIR was increasing, with 178.86 (M: 247.21, F: 128.52). The AIR for subtypes was: MGUS, 8.01 (M: 3.56, F: 1.93); CLL 2.28 (M: 2.69, F: 1.95); CMPD 3.17 (M: 2.83, F: 3.51); MM 1.92 (M: 2.43, F: 1.49); HD 2.27 (M: 3.54, F: 1.04); AL 1.41 (M: 1.54, F: 1.30); ITP 1.15 (M: 1.20, F: 1.12); CML 1.09 (M: 1.19, F: 1.01); AIHA 0.61 (M: 0.55, F: 0.69); hypoplastic anaemia 0.24 (M: 0.19, F: 0.30); cryoglobulinaemia 0.34 (M: 0.55, F: 0.14). REMARKS: The elderly have increased incidence of PHD. The AIR is higher in males and in older than 60 y, unless for CMPD. Most frequent PHD were MGUS and NHL.

Adult↗
PubMed1997

Vibrio furnissii isolated from humans in Peru: a possible human pathogen?

During a cholera surveillance programme, Vibrio furnissii was isolated in late January and early February 1994 from stool samples collected from 14 persons of whom six had diarrhoea. The remaining eight persons were healthy family members or neighbours to cholera cases. No common source of infection was found. Strains isolated from stool samples each showed typical biochemical reactions of V. furnissii including gas production. Each isolate, except one, agglutinated O-antisera yielding a total of eight different serotypes. Most isolates were sensitive to 10 antibiotics tested, except to ampicillin and the vibriostatic agent O/129 (10 micrograms). Eight of 14 (57%) strains carried plasmids in the size range 2.6-88 kb, however, no correlation was found between antibiotic susceptibility patterns and plasmid content. Altogether, seven closely related HindIII ribotypes were observed among the 14 V. furnissii isolates studied. V. furnissii strains isolated from family members and other persons living close together often showed different ribotypes suggesting that the isolation was not associated with neighbourhood. Serotyping, plasmid profiling and ribotyping revealed a high strain diversity within V. furnissii, however, the importance of V. furnissii as an enteric pathogen remains to be elucidated.

Adolescent↗
PubMed1997

Quantitative ELISA for mouse monoclonal antibody determination in culture supernatants and in human serum.

An ELISA has been set up for quantifying mouse monoclonal antibodies in culture supernatant. The assay includes rabbit anti-mouse IgG antibodies chromatographycally purified. This preparation was used as coating and as conjugated antibodies in the ELISA. The assay can detect IgG1 with sensitivity of 0.2 ng/mL, IgG2a (0.85 ng/mL), IgG2b (0.13 ng/mL), and IgG3 (3.19 ng/mL) in culture supernatants. The effective working range was from subnanogram per mL quantities to 30 ng/mL by using a computer statistical program. Variation coefficient of ELISA was below 7%. Correlation estimates with a similar ELISA using commercial reagents were performed for each mouse antibody subclass. The assay was able to detect the four mouse monoclonal antibody subclasses in pure human serum as compared with the same ELISA using commercial antibodies. A 24-h pharmacokinetic profile of 1 patient treated with an IgG2a monoclonal antibody is presented.

Animals↗
PubMed1992

[Hydronephrosis and urinary retention secondary to extrinsic compression by an ovarian cyst in a girl].

The indications for laparoscopy have increased markedly in the last few years. It is becoming necessary to define it's role and it's limits. Currently laparoscopy should only be used to treat ovarian tumors that are benign by clinical and ultrasonographic criteria. This case report describes a 12-year-old girl who presented with urinary retention and was found to have bilateral hydronephrosis and a ovarian cyst. She had no evidence of renal compromise and the cyst appeared benign by ultrasonographic criteria. The ovarian cyst appeared to be causing external bilateral ureteral compression. A laparoscopic cystectomy was performed with resolution of hydronephrosis. This case report helps illustrate the benefits and disadvantages of the laparoscopic approach to ovarian surgery.

Biopsy↗
PubMed1990

Blood and plasma donations among a cohort of intravenous drug users.

We evaluated the blood and plasma donation histories of a cohort of 2921 intravenous drug users in Baltimore, Md, and correlated these histories with their human immunodeficiency virus (HIV) serologic status, numbers of CD4 lymphocytes in the peripheral blood, and stigmata of intravenous drug use (scarred veins). Of the 793 intravenous drug users (27.1%) who had donated blood or plasma, 652 (82.2%) donated after they had started using intravenous drugs. Most subjects donated at commercial plasma centers, where they were paid $10 to $15 per donation. Although the HIV-1 seroprevalence of the entire cohort was 24.1%, the HIV-1 seroprevalence among those reporting plasma or blood donations declined progressively with time, from 17.1% in those who last donated in 1985 to 3.6% in those who last donated in 1988-1989. Many of the 437 intravenous drug users who had donated plasma or blood since 1985, when screening for HIV-1 was initiated, had not been notified and counseled about their HIV test results. Current programs to exclude individuals with a history of intravenous drug use from the plasma donor pool should be reevaluated and improved.

Baltimore↗
PubMed1989

Effect of nicotinamide treatment on the residual insulin secretion in type 1 (insulin-dependent) diabetic patients.

In vivo and in vitro experiments have shown that nicotinamide enhances the regeneration of rat B cells. Nicotinamide has been administered to human subjects at a dose of 3 g/day for more than one year without any serious side effects. A trial was conducted to study if nicotinamide could protect B cells in Type I (insulin-dependent) diabetic patients with established diabetes, but still with residual insulin secretion, the latter being evaluated throughout the study period. A randomized double-blind study was carried out on 26 Type I diabetic patients aged 15 to 40 years who had been treated with insulin for 1 to 5 years but who had a residual insulin secretion characterized by a glucagon stimulated C-peptide level higher than 0.1 nmol/l. They were given either 3 g/day of nicotinamide or a placebo for nine months. At baseline the treated and control groups did not differ according to age, diabetes duration, insulin dose, HbA1c or C-peptide levels. Three patients dropped out of the study. At 9 months there were no significant changes in the insulin doses required. However, HbA1c rose in the control group (8.1 +/- 0.4 vs 9.8 +/- 0.5%, p less than 0.05) but not in the nicotinamide treated group (7.5 +/- 0.5 vs 6.9 +/- 0.4%).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1975

Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.

Three male sibs from consanguienous parents were found to have a strikingly similar pattern of multiple congenital anomalies. The main features were polyhydramnios; low birthweight; dwarfism; epicanthal folds; abnormal ears; microretrognathia; microstomia; microglossia; glossoptosis; webbed neck; severe cardiac defects; radial and ulnar hypoplasia; radial deviation of the hands; brachymetacarpalia; thumb hypoplasia; clinodactyly and hypoplasia of the 5th finger; simian creases; fibular and tibial hypoplasia; talipes varus with hypoplastic heels; wide gap between 1st and 2nd toes; and delayed bone age. Neonatal death occurred in the 3 babies by severe cardiac failure. Differential diagnosis permits one to conclude that this is a new type of faciocardiomelic dysplasia with a probable autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMedDate not supplied

[Sino-nasal endoscopic surgery in fungal sinusitis. Our experience].

Fungal sinusitis is a rare entity which has increased amongst immunocompromised individuals. Records of thirteen patients treated of fungal sinus disease between 1995 and 2001 were reviewed. Histopathological studies demonstrated infection due to Aspergillus in eight patients and due to Mucormycosis in five patients. The surgical debridement via endoscopic sinus surgery was the essential part of the management. The follow-up is 12-72 months (mean 29.08). The main clinical findings and a review of the literature are presented. We conclude that endoscopic sinus surgery is the treatment of choice for fungal sinusitis except in advanced cases of mucormycosis in which a combined approach is still necessary together with intravenous antifungal drugs (amphotericin B).

Adult↗
PubMedDate not supplied

Treatment of chancroid with a single dose of spectinomycin.

Fifty patients with lesions characteristic of chancroid were enrolled in an open-label prospective study to examine the efficacy of a single 2-gm dose of spectinomycin for treatment of chancroid. Only those patients (41 men; aged 18 to 49 years) with positive culture results for Haemophilus ducreyi were included in the analysis. Patients each received a single 2-gm dose of spectinomycin intramuscularly. The recovery process began on the third day of follow-up, as evidenced by the occurrence of epithelialization and a decrease in inflammation. By the seventh day after treatment, only one patient had ulcers; 40 patients experienced eradication of all ulcers (P less than 0.0001). The condition of nodes affected by infection also indicated efficacy of treatment (P less than 0.01); only one patient still had a swollen node by the fourteenth day after treatment. Of the 41 patients, 37 (90%) had negative culture results for H. ducreyi on the third day after treatment. Only 4 patients (10%) required a second dose of spectinomycin on the seventh day to affect a cure. Treatment with spectinomycin resulted in a 98% cure rate 14 days after treatment. The minimum inhibitory concentration (MIC) of spectinomycin was 1 microgram/mL to 3 micrograms/mL in the 15 strains studied. The drug was well tolerated and no adverse reactions were reported. It is concluded that a single 2-gm dose of spectinomycin is a safe and effective alternative drug for treatment of chancroid.

Adolescent↗
PubMedDate not supplied

Percutaneous endoscopic gastrostomy in head and neck cancer patients.

OBJECTIVE: To present our experience with the indications and complications of percutaneous endoscopic gastrostomy (PEG) in head and neck cancer patients. MATERIALS AND METHODS: In a retrospective study of the patients treated, we reviewed the records of 43 patients diagnosed with head and neck cancer at the Otorhinolaryngology Department, in which a PEG was performed by the Unit of Digestive Endoscopy. RESULTS: All cases had squamous cell carcinoma. Larynx was the most frequent primary site, with 21 cases (49%), followed by hypopharynx, 12 patients (28%). Indications for PEG were: dysphagia (53.5%) and pharyngocutaneous fistula (43.5%). The most frequent complication was a local infection. CONCLUSION: PEG is a good choice for long-term enteral feeding in head and neck cancer patients due to its low complication rate and easy handling.

Aged↗
PubMedDate not supplied

Treatment of rhinocerebral mucormycosis by combination of endoscopic sinus debridement and amphotericin B.

Rhinocerebral mucormycosis (RCM) is an aggressive fungal infection with a high mortality rate. It frequently develops in patients with uncontrolled diabetes mellitus or immunocompromised patients. RCM typically presents in a rapidly fulminant manner with headache, fever, mucosal necrosis, and ophthalmic symptoms. Although the definitive diagnosis is achieved by histopathological examination, computed tomography (CT) scanning and magnetic resonance (MR) are the best imaging procedures in early diagnosis to assess the extent of the disease.

Amphotericin B↗