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Biomedical subjects

M Manrique

Publications and source records attributed to M Manrique.

At least 37 records · Page 2Linked to original sources
PubMed1999

[Autosomal dominant polycystic kidney disease: detection of a new mutation in the PKD1 gene].

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by genetic heterogeneity. Up to three loci are involved in this disease, PKD1 on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Since the identification of the PKD1 gene, the interest was centered in the characterization of the mutations responsible for the disease. Most mutations found were diverse and situated throughout the gene with no phenotypic correlation. Here we describe a new mutation in exon 44 from PKD1 gene in a family previously characterized as PKD1 by linkage analysis. The mutation is a single base substitution from a C to a T at position 12220 originating a stop codon at the mutation site. This would lead to premature termination and the formation of a truncated protein lacking part of the carboxi-terminus.

Adolescent↗
PubMed1999

[Prevalence of islet cell antibodies among 1021 relatives of type 1 diabetics].

BACKGROUND: An immunological damage of beta cells in the islets of Langerhans, plays a role in the pathogenesis of type 1 diabetes. Recently, the identification of individuals in pre clinical phase and with high risk of developing type 1 diabetes, has become possible by means of the detection of immune markers such as islet cell antibodies (ICA) and the measurement of first phase response of insulin (FPRI). SUBJECTS AND METHODS: We studied 1,021 first degree relatives of type 1 diabetics, aged 4 to 35 years. ICA were measured using poly-IgG peroxidase in sections of human pancreas. In those subjects with positive ICA and normal oral glucose tolerance test, the FPRI was measured. FPRI was defined as the sum of insulinemias at minutes 1 and 3 after a three minutes 0.5 g/kg glucose load. RESULTS: Thirty subjects were ICA (+), defined as having more than 20 juvenile diabetes foundation units (prevalence of 2.9%). No differences in age, sex and closeness of familial relationship was found between ICA (+) and ICA (-) individuals. FPRI was measured in 24 subjects with normal oral glucose tolerance test and was normal in five. Seventeen subjects had a decreased response (between percentiles 1 and 5) and two had a response below percentile 1. No relationship between ICA levels and FPRI was found. CONCLUSIONS: The early detection of populations at risk of developing type 1 diabetes should be regarded as an important tool to better understand the natural history of the disease and to develop preventive programs in the future.

Adolescent↗
PubMed1999

[Study of surgical complications and technical failures (correction of technical defects) of cochlear implants].

INTRODUCTION: Cochlear implants (CI) have proved their clinical efficacy and have overcome a routine treatment for profound sensorineural impairment. In the present paper we review our CI program concerning surgical complications and equipment failures. MATERIAL AND METHODS: One-hundred and thirty-five patients (69 younger and 66 older than 14 years of age) are subjects of the study. They suffered from pre-lingual (86 cases) or post-lingual (49 cases) profound bilateral sensorineural hearing impairment, and all of them received a Mini Nucleus 22 CI in our CI program. We analyze minor and major surgical complications and also CI and external equipment failures. RESULTS: In 6.1% of the patients (8 cases) a surgical complication occurred, 3 of them flap-related complications. In 2 of these cases (1.54%) complications were major. Three patients (2.17%) developed a complete CI failure, while in 8 cases malfunction of one or more electrodes was detected. Cumulative survival of CI was 87 months, without significant differences related to age or gender. Cumulative survival of the processors was 78.6 months, without significant differences related to the type of processor (MSP or Spectra) or gender but related to the age. The microphone failed in 42.2% of the cases. CONCLUSIONS: The CI is a low-morbidity treatment with adequate characteristics of durability and reliability. Nevertheless, some of the external components remain quite vulnerable.

Adolescent↗
PubMed1998

Granular-cell tumor of the esophagus: report of a case with a cytologic diagnosis based on esophageal brushing.

We report a case of granular-cell tumor (GCT) in the esophagus. This is a rare location for this tumor and only 80 cases have been described. The tumor was diagnosed in a 24-yr-old woman with epigastralgia. Endoscopic examination revealed a submucosal ulcerated lesion. The smears derived from esophageal brushings contained clusters of granular cells. Histologic examination of the endoscopic biopsy provided diagnostic confirmation of GCT. To our knowledge, this is the first reported case of esophageal GCT in which the characteristic tumor cells were seen in the endoscopic brushing material. This case demonstrates that a cytologic diagnosis of GCT is possible if the lesion is ulcerated and/or brushing is subsequent to taking the biopsy. Although rare in the esophagus, GCT should be considered in the differential diagnosis of esophageal neoplasms.

Adult↗
PubMed1998

Spanish study group on cochlear implants for persons with marginal benefit from acoustic amplification.

Recently the U.S. Food and Drug Administration approved the use of cochlear implants (CI) in patients with severe-to-profound sensorineural hearing loss with marginal benefit (< 30% speech discrimination) from hearing aids (HA). A multicentre trial was developed to determine whether this approval could be applied to the Spanish population. Nine postlingual adults from 3 centres were selected for the study. The mean preoperative unaided PTA threshold (0.25 to 4 KHz) was 108.6 dB HL for the poorer ear and 99.8 dB HL for the better. In all subjects the poorer ear was implanted with a Mini Nucleus 22 device. A single subject design study was used to compare performance with HA preoperatively and with CI postoperatively, or CI with contralateral HA. PTA measures and Spanish open set speech recognition tests were used. Comparing pre-implant levels with results after 6 months of CI use, all subjects improved significantly on all test measures: i) Mean aided soundfield threshold: 73.6 dB vs 39.8 dB ii) Mean bisyllabic recognition: 20% vs 57% iii) Mean consonant discrimination: 20% vs 49% iv) Mean CID sentences: 22% vs 73%. Five subjects discontinued use of the contralateral HA after implantation, three continued occasionally to use the HA, and one continued to use both on a full-time basis. Patients performed significantly better post-implant on speech recognition compared with their best pre-implant HA scores. Therefore the CI appears an appropriate treatment for Spanish speakers with a severe-to-profound hearing loss and marginal benefits with HA.

Adolescent↗
PubMed1998

Indications and counterindications for cochlear implantation in children.

OBJECTIVE: This study is aimed to analyze the current indications and counterindications of cochlear implantation (CI) in children. STUDY DESIGN: This study reviews the children implanted in our institution looking specifically at the following aspects: 1) auditory criteria for candidate selection; 2) age at implantation; 3) educational environment; and 4) associated handicapping conditions. SETTING: Tertiary referral center with experience in CI since 1989 with inpatient and outpatient care. INTERVENTION: All children received a Mini Nucleus 22 CI device (Cochlear Limited, Australia) in a standard surgical procedure. RESULTS: Regarding auditory criteria, children with average hearing level of 100-105 dB HL are more likely to obtain benefit from a CI than from a hearing aid. The minimum age for CI should be as soon as there is a reliable diagnosis of bilateral profound hearing loss, while the maximum age for CI depends on strict selection criteria of candidates. The educational environment is of a great importance in the rehabilitation process, permitting a progressive change to oral communication. Our experience in CI of children with multiple handicapping conditions is limited to a case of a deaf-blind child who was implanted with a good performance. In the selection of these children it is mandatory to have extensive multidisciplinary evaluation. CONCLUSIONS: An experienced team is needed in the selection of children for CI. Candidates should meet anatomic criteria, have a reliable diagnosis of bilateral profound hearing loss, an evaluation of communication skills, and extensive neuropediatric and socioeducational evaluation.

Adolescent↗
PubMed1998

[Craniofacial development in secretory otitis].

The AA. consider in a population of 76 children, the connexion between bony palate, choanae and the M. tensor veli palatini and the occurrence of secretory otitis. They measured for this purpose several craniofacial structures "in vivo". Children suffering secretory otitis presented, contrary to children without aural pathology, a greater incidence of gothic palate (p < 0.001) and a significant decrease of both palatine (p < 0.05) and choanae (p < 0.001). All children showed going through puberty an palatinal and choanal growth as well a closure of the M. tensor veli palatini angle.

Adolescent↗
PubMed1998

Cochlear implants for adults obtaining marginal benefit from acoustic amplification: a European study.

OBJECTIVE: This study aimed to examine the application of a speech recognition score of 30% on open-set word materials as the upper limit for preoperative performance in determining cochlear implant (CI) candidacy for European non-English-speaking hearing-impaired persons. This study also aimed to determine the effect of implantation on residual pure-tone hearing thresholds and to determine the incidence and benefit of a contralateral hearing aid postimplant. STUDY DESIGN: The single-subject design study, involving 20 postlinguistically deafened subjects, compares preoperative performance with hearing aids to postoperative performance with a CI at 6 months after surgery. Subjects were implanted with either the Nucleus Mini 22 or the Nucleus 24 CI systems implementing the MPEAK and SPEAK coding strategies. Fourteen subjects meeting the selection criteria were accrued consecutively specifically for inclusion in the study, whereas the remaining 6 retrospectively implanted subjects were identified for inclusion via patient records. PATIENTS: The investigation included 8 clinics over 3 countries (France, Germany, and Spain) and involved 20 postlinguistically deafened subjects who obtained marginal benefit from acoustic amplification before surgery. Nineteen subjects were older than 18 years of age with 1 subject being 14 years old included in the data report as well. MAIN OUTCOME MEASURES: Open-set speech recognition was evaluated before and after surgery using recorded word lists and sentence lists in the subject's native language to determine benefit from the treatment. Baseline audiograms were obtained before surgery for frequencies of 0.25-8.0 kHz for both ears and compared to pure-tone hearing thresholds measured at 1 month after surgery to determine the effect of the implantation on residual hearing. Additionally, a questionnaire was administered to determine the incidence and benefit of continued hearing aid use in the contralateral ear postimplant. RESULTS: Nineteen of the 20 study subjects displayed a significant benefit after surgery at 6 months after switch-on for open-set speech recognition. The remaining subject displayed no significant change in performance on objective testing. The implantation resulted in a significant downward shift in hearing thresholds for the implant ear in the majority of subjects. However, 50% of subjects displayed conservation of some residual hearing. For the majority of subjects, hearing aid use in the contralateral ear was discontinued because of lack of perceived benefit after surgery. CONCLUSIONS: The Nucleus Multichannel CI provides a significant benefit for postlinguistically deafened adults who display marginal benefit from acoustic amplification. Therefore, in French-, German-, and Spanish-speaking clinics, a speech recognition score of 30% on open-set word materials is considered an appropriate upper limit for preoperative performance in determining CI candidacy. In view of a significant downward shift in pure-tone thresholds in the implant ear for the majority of subjects, in cases of asymmetry, it is recommended that the poorer ear be implanted. After surgery, the majority of subjects did not perceive an added benefit from continued use of their contralateral hearing aid.

Adolescent↗
PubMed1996

[On adenoidectomy].

The paper deals on the advantages for the rhinopharynx following adenoidectomy. The AA. explain their procedure for its removal under visual control. Both a radiological and microbiological study was done in 90 children waiting for the removal with the aim of realizing the changes derived to the upper air-way. The surgery enhances the adenoidal expression and significatively improves the rhinopharyngeal air-way (p < 0.001). Furthermore the pathogenic flora of epipharynx changes for benefit of the saprophytic flora (p < 0.001). The adenoidectomy is indicated when the adenoidal mass hinder the nasopharyngeal breathing, when causes adenoid outbreaks and also in those cases of stubborn secretory otitis not yielding to conservative treatment.

Acute Disease↗
PubMed1995

[Anorexigenic drugs in the treatment of obesity].

Obesity is highly prevalent and has several adverse effects on health. Its treatment is thus warranted and must aim to modify dietary and physical activity habits. The opinion of this association is that anorexigenic drugs with cathecolaminergic action (diethylpropion, phentermine, mazindol and phenylpropanolamine) or serotoninergic action (fenfluoramine and fluoxetine) may be used in moderate or severe obesity (BMI > 30 kg/m2) after a complete clinical assessment and in the context of an integral medical treatment. This association recommends a close surveillance of the use of these drugs, specially when formulated as non-proprietary prescriptions.

Appetite Depressants↗
PubMed1995

[Immunologic and insulin secretion markers in non insulin dependent diabetic patients with secondary failure to oral hypoglycemic drugs].

BACKGROUND: The pathogenesis of secondary failure to hypoglycemic agents is heterogeneous. Some patients are true insulin dependent diabetics with a slow autoimmune disease suggested by their positive islet cell antibodies. Others, have an increased insulin resistance. AIM: To assess the frequency of positive islet cell antibodies in diabetic patients with secondary failure to oral hypoglycemic agents. PATIENTS AND METHODS: Thirty one diabetics, 16 with recent (less than six months) secondary failure and 15 with metabolically stable non insulin dependent diabetes were studied. All patients were older than 25 years old and had a body mass index of less than 30 kg/m2. C peptide levels before and at 5, 15 and 30 min after IV glucagon, islet cell antibodies using the Poly Human IgG peroxidase method and insulin sensitivity and secretion (estimated by the Homeostasis Model Assessment) were measured. RESULTS: Patients with secondary failure had lower C peptide levels, compared to subjects with stable diabetes (basal: 1.5 +/- 0.2 and 2.8 +/- 0.2 ng/ml; 5 min: 2.4 +/- 0.3 and 5.5 +/- 0.5 ng/ml; 15 min: 1.9 +/- 0.3 and 4.0 +/- 0.6 ng/ml; 30 min: 1.6 +/- 0.3 and 3.4 +/- 0.5 ng/ml). Beta cell activity was 20.6 +/- 4.3% in patients with secondary failure and 92.2 +/- 9% in stable diabetics (p < 0.01). Insulin sensitivity was similar in both groups (48.6 +/- 6 and 42.8 +/- 3.5% respectively). Three patients with secondary failure and none with stable diabetes had positive islet cell antibodies. When comparing patients with secondary failure and positive antibodies and subjects with secondary failure and negative antibodies, the former had non significantly lower age, BMI and C peptide levels. CONCLUSIONS: Some diabetic patients with secondary failure have positive islet cell antibodies. They should be measured in these patients to start insulin treatment precociously.

Administration, Oral↗