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4.
Dig Dis Sci ; 67(12): 5666-5675, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35704255

RESUMO

BACKGROUND AND AIMS: Irritable bowel syndrome (IBS) is one of the most frequent disorders in clinical practice, with a mean 7.6-10.8% worldwide prevalence. A study showed that 6.1% of patients with diarrhea-predominant IBS (IBS-D) had severe exocrine pancreatic insufficiency (EPI). We aimed to identify the prevalence of EPI based on fecal elastase stool testing (Fel-1) in IBS-D and the clinical characteristics that may predict the diagnosis of EPI. METHODS: Patients aged > 18 years presenting to tertiary hospital outpatient clinics with IBS-D completed validated questionnaires and gave a stool sample where Fel-1 concentration was measured. Patients with Fel-1 < 100 µg/g represented EPI and > 100 to < 200 µg/g underwent testing for pancreatic pathology with laboratory and endoscopic ultrasound (EUS) evaluation. RESULTS: One hundred forty patients (mean age 60 years, females 75.7%) were studied. EPI was found in 5% (95% CI 2.2-10.4), and pancreatic steatosis was the main EUS finding (71%). Dyspepsia was an independent factor associated with EPI (OR 34.7; 95% CI 4.95-366.37, p = 0.0007). After pancreatic enzyme replacement therapy (PERT), patients showed a significant improvement in the Bristol stool scale (p < 0.0001), bowel movements per day (p < 0.005), distension score (0.0009), pain score (0.0277) and IBS severity (0.0034). CONCLUSION: EPI is present in 5% of patients who fulfill Rome IV criteria for D-IBS, and dyspepsia was an independent symptom strongly associated with EPI. Pancreatic steatosis was the main endoscopic ultrasound finding. After PERT therapy, patients had significantly improved stool frequency, stool consistency, abdominal pain, distension and IBS severity score.


Assuntos
Dispepsia , Insuficiência Pancreática Exócrina , Síndrome do Intestino Irritável , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome do Intestino Irritável/complicações , Síndrome do Intestino Irritável/diagnóstico , Síndrome do Intestino Irritável/epidemiologia , Diarreia/epidemiologia , Diarreia/etiologia , Cidade de Roma , Insuficiência Pancreática Exócrina/diagnóstico , Insuficiência Pancreática Exócrina/epidemiologia , Insuficiência Pancreática Exócrina/etiologia
5.
World J Gastrointest Endosc ; 14(3): 129-141, 2022 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-35432747

RESUMO

BACKGROUND: Currently, there is insufficient data about the accuracy in the diagnosing of pancreatic cystic lesions (PCLs), especially with novel endoscopic techniques such as with direct intracystic micro-forceps biopsy (mFB) and needle-based confocal laser-endomicroscopy (nCLE). AIM: To compare the accuracy of endoscopic ultrasound (EUS) and associated techniques for the detection of potentially malignant PCLs: EUS-guided fine needle aspiration (EUS-FNA), contrast-enhanced EUS (CE-EUS), EUS-guided fiberoptic probe cystoscopy (cystoscopy), mFB, and nCLE. METHODS: This was a single-center, retrospective study. We identified patients who had undergone EUS, with or without additional diagnostic techniques, and had been diagnosed with PCLs. We determined agreement among malignancy after 24-mo follow-up findings with detection of potentially malignant PCLs via the EUS-guided techniques and/or EUS-guided biopsy when available (EUS malignancy detection). RESULTS: A total of 129 patients were included, with EUS performed alone in 47/129. In 82/129 patients, EUS procedures were performed with additional EUS-FNA (21/82), CE-EUS (20/82), cystoscopy (27/82), mFB (36/82), nCLE (44/82). Agreement between EUS malignancy detection and the 24-mo follow-up findings was higher when associated with additional diagnostic techniques than EUS alone [62/82 (75.6%) vs 8/47 (17%); OR 4.35, 95%CI: 2.70-7.37; P < 0.001]. The highest malignancy detection accuracy was reached when nCLE and direct intracystic mFB were both performed, with a sensitivity, specificity, positive predictive value, negative predictive value and observed agreement of 100%, 89.4%, 77.8%, 100% and 92.3%, respectively (P < 0.001 compared with EUS-alone). CONCLUSION: The combined use of EUS-guided mFB and nCLE improves detection of potentially malignant PCLs compared with EUS-alone, EUS-FNA, CE-EUS or cystoscopy.

6.
Gac Med Mex ; 157(1): 10-17, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34125807

RESUMO

INTRODUCTION: Adverse childhood experiences (ACEs) have been associated with the acquisition of risk behaviors and development of chronic and mental diseases since adolescence and in adult life. OBJECTIVE: To identify the knowledge and the frequency pediatrics residents ask about ACEs with. METHODS: Through an online survey sent to all resident physicians of the 2017-2018 academic year of a tertiary care children's hospital, demographic variables, knowledge, use, training and barriers to interrogate and search for ACEs were collected. RESULTS: 21% of residents answered the survey; the majority were women (70 %), less than 5 % of participants were familiar with ACEs, 31 % enquired about them in parents and their children, and 71 % considered having some barrier to interrogate about them. CONCLUSIONS: Participants in this study showed limited knowledge about ACEs, which had an impact on the frequency they enquired about them with in their patients and their parents; at least half had the perception that it is beyond the reach of the pediatrician to identify them.


INTRODUCCIÓN: Las experiencias adversas en la infancia (EAI) se han relacionado con la adquisición de conductas de riesgo y el desarrollo de enfermedades crónicas y mentales, desde la adolescencia y en la vida adulta. OBJETIVO: Identificar el conocimiento y la frecuencia con la que médicos residentes de pediatría interrogan sobre las EAI. MÉTODOS: Mediante una encuesta en línea enviada a todos los médicos residentes del año académico 2017-2018 de un hospital pediátrico de tercer nivel, se recabaron variables demográficas, del conocimiento, uso, entrenamiento y barreras para interrogar sobre EAI. RESULTADOS: 21 % de los residentes respondió la encuesta, la mayoría fue del sexo femenino (70 %), menos de 5 % de los participantes estaba familiarizado con las EAI, 31 % interrogaba sobre ellas a los padres e hijos y 71 % consideró que tiene alguna barrera para interrogarlas. CONCLUSIONES: Los participantes de este estudio mostraron un conocimiento limitado sobre las EAI, lo que repercutió en la frecuencia con la que preguntaban al respecto a sus pacientes y padres; al menos la mitad tuvo la percepción que identificarlas está fuera del alcance del pediatra.


Assuntos
Experiências Adversas da Infância/psicologia , Maus-Tratos Infantis/diagnóstico , Competência Clínica , Internato e Residência/estatística & dados numéricos , Pediatria , Adolescente , Adulto , Criança , Abuso Sexual na Infância/diagnóstico , Filho de Pais com Deficiência , Violência Doméstica , Abuso Emocional , Feminino , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Humanos , Masculino , Transtornos Mentais/diagnóstico , México , Pais , Abuso Físico
7.
Trials ; 22(1): 310, 2021 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-33910614

RESUMO

OBJECTIVES: This research aims to study the efficacy of tannins co-supplementation on disease duration, severity and clinical symptoms, microbiota composition and inflammatory mediators in SARS-CoV2 patients. TRIAL DESIGN: This is a prospective, double-blind, randomized, placebo-controlled, parallel-group trial to evaluate the efficacy of the administration of the dietary supplement ARBOX, a molecular blend of quebracho and chestnut tannins extract and Vit B12, in patients affected by COVID-19. PARTICIPANTS: 18 years of age or older, admitted to Hospital de Clinicas Jose de San Martin, Buenos Aires University (Argentina), meeting the definition of "COVID-19 confirmed case" ( https://www.argentina.gob.ar/salud/coronavirus-COVID-19/definicion-de-caso ). Inclusion Criteria Participants are eligible to be included in the study if the following criteria apply: 1. Any gender 2. ≥18 years old 3. Informed consent for participation in the study 4. Virological diagnosis of SARS-CoV-2 infection (real-time PCR) Exclusion Criteria Participants are excluded from the study if any of the following criteria apply: 1. Pregnant and lactating patients 2. Patients who cannot take oral therapy (with severe cognitive decline, assisted ventilation, or impaired consciousness) 3. Hypersensitivity to polyphenols 4. Patients already in ICU or requiring mechanical ventilation 5. Patients already enrolled in other clinical trials 6. Decline of consent INTERVENTION AND COMPARATOR: Experimental: TREATED ARM Participants will receive a supply of 28 -- 390 mg ARBOX capsules for 14 days. Patients will be supplemented with 2 capsules of ARBOX per day. Placebo Comparator: CONTROL ARM Participants will receive placebo supply for 14 days. The placebo will be administered with the identical dose as described for the test product. All trial participants will receive standard therapy, which includes: Antipyretics or Lopinavir / Ritonavir, Azithromycin and Hydroxychloroquine, as appropriate (treatment currently recommended by the department of Infectious Diseases of the Hospital de Clínicas that could undergo to modifications). In addition, if necessary: supplemental O2, non-invasive ventilation, antibiotic therapy. MAIN OUTCOMES: Primary Outcome Measures: Time to hospital discharge, defined as the time from first dose of ARBOX to hospital discharge [ Time Frame: Throughout the Study (Day 0 to Day 28) ] Secondary Outcome Measures: 28-day all-cause mortality [ Time Frame: Throughout the Study (Day 0 to Day 28) ]-proportion Invasive ventilation on day 28 [ Time Frame: Throughout the Study (Day 0 to Day 28) ]-proportion Level of inflammation parameters and cytokines [ Time Frame: day 1-14 ] -mean difference Difference in fecal intestinal microbiota composition and intestinal permeability [ Time Frame: day 1-14 ] Negativization of COVID-PCR at day 14 [ Time Frame: day 14 ]-proportion RANDOMIZATION: Potential study participants were screened for eligibility 24 hours prior to study randomization. Patients were randomly assigned via computer-generated random numbering (1:1) to receive standard treatment coupled with tannin or standard treatment plus placebo (control group). BLINDING (MASKING): Study personnel and participants are blinded to the treatment allocation, as both ARBOX and placebo were packed in identical containers. Thus, all the used capsules had identical appearance. NUMBERS TO BE RANDOMIZED (SAMPLE SIZE): Considering an alpha error of 5%, a power of 80% a sample size of 70 patients per branch was estimated. 140 patients in total. TRIAL STATUS: The protocol version is number V2, dated May 23, 2020. The first patient, first visit was on June 12, 2020; the recruitment end date was October 6, 2020. The protocol was not submitted earlier because the enrollment of some patients took place after the closure of the recruitment on the clinicaltrials platform. In fact, due to the epidemiological conditions, due to the decrease of the cases in Argentina during the summer period, the recruitment stopped t before reaching the number of 140 patients (as indicated in the webpage). However, since there was a new increase in cases, the enrolment was resumed in order to reach the number of patients initially planned in the protocol. The final participant was recruited on February 14, 2021. TRIAL REGISTRATION: ClinicalTrials.gov, number: NCT04403646 , registered on May 27th, 2020. FULL PROTOCOL: The full protocol is attached as an additional file, accessible from the Trials website (Additional file 1). In the interest in expediting dissemination of this material, the familiar formatting has been eliminated; this Letter serves as a summary of the key elements of the full protocol.


Assuntos
COVID-19 , Adolescente , Adulto , Argentina , Suplementos Nutricionais , Feminino , Humanos , Lactação , Extratos Vegetais/efeitos adversos , Gravidez , Estudos Prospectivos , RNA Viral , Ensaios Clínicos Controlados Aleatórios como Assunto , SARS-CoV-2 , Taninos/efeitos adversos , Resultado do Tratamento
8.
Gac. méd. Méx ; Gac. méd. Méx;157(1): 10-18, ene.-feb. 2021. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1279067

RESUMO

Resumen Introducción: Las experiencias adversas en la infancia (EAI) se han relacionado con la adquisición de conductas de riesgo y el desarrollo de enfermedades crónicas y mentales, desde la adolescencia y en la vida adulta. Objetivo: Identificar el conocimiento y la frecuencia con la que médicos residentes de pediatría interrogan sobre las EAI. Métodos: Mediante una encuesta en línea enviada a todos los médicos residentes del año académico 2017-2018 de un hospital pediátrico de tercer nivel, se recabaron variables demográficas, del conocimiento, uso, entrenamiento y barreras para interrogar sobre EAI. Resultados: 21 % de los residentes respondió la encuesta, la mayoría fue del sexo femenino (70 %), menos de 5 % de los participantes estaba familiarizado con las EAI, 31 % interrogaba sobre ellas a los padres e hijos y 71 % consideró que tiene alguna barrera para interrogarlas. Conclusiones: Los participantes de este estudio mostraron un conocimiento limitado sobre las EAI, lo que repercutió en la frecuencia con la que preguntaban al respecto a sus pacientes y padres; al menos la mitad tuvo la percepción que identificarlas está fuera del alcance del pediatra.


Abstract Introduction: Adverse childhood experiences (ACEs) have been associated with the acquisition of risk behaviors and development of chronic and mental diseases since adolescence and in adult life. Objective: To identify the knowledge and the frequency pediatrics residents ask about ACEs with. Methods: Through an online survey sent to all resident physicians of the 2017-2018 academic year of a tertiary care children’s hospital, demographic variables, knowledge, use, training and barriers to interrogate and search for ACEs were collected. Results: 21% of residents answered the survey; the majority were women (70 %), less than 5 % of participants were familiar with ACEs, 31 % enquired about them in parents and their children, and 71 % considered having some barrier to interrogate about them. Conclusions: Participants in this study showed limited knowledge about ACEs, which had an impact on the frequency they enquired about them with in their patients and their parents; at least half had the perception that it is beyond the reach of the pediatrician to identify them.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto , Pediatria , Maus-Tratos Infantis/diagnóstico , Competência Clínica , Experiências Adversas da Infância , Internato e Residência/estatística & dados numéricos , Pais , Abuso Sexual na Infância/diagnóstico , Filho de Pais com Deficiência , Violência Doméstica , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Abuso Físico , Abuso Emocional , Transtornos Mentais/diagnóstico , México
9.
Gastrointest Endosc ; 93(4): 935-941, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-32707155

RESUMO

BACKGROUND AND AIMS: Various macroscopic features are proposed for the diagnosis of biliary lesions during digital single-operator cholangioscopy (DSOC); however, neovasculature may be one of the most reliable features of neoplasia. We aimed to evaluate the detection of neovasculature during DSOC to distinguish neoplastic from non-neoplastic bile duct lesions. METHODS: A retrospective, single-center, cohort study was used. Neovasculature was defined as the presence of irregular or "spider" vascularity on bile duct lesions. The accuracy of detection of neovasculature for the identification of neoplastic lesions was estimated using the histologic results, surgical specimens, and/or 6-month follow-up as the criterion standard. Interobserver agreement analysis (kappa value) was performed between 2 expert endoscopists and 3 nonexpert physicians. RESULTS: Ninety-five patients were included; the median age was 65.6 years (range, 20-93 years), and 51 (53.7%) patients were female. Signs of neovasculature were observed in 65 of 95 (68.4%) patients. Histology confirmed neoplasia in 48 of 95 (50.5%) patients, and 6-month follow-up survival confirmed neoplasia in 52 of 95 (54.7%) patients. The use of vascularity for identifying neoplastic lesions achieved an accuracy of 80%, sensitivity of 94%, specificity of 63%, positive predictive value of 75%, negative predictive value of 90%, positive likelihood ratio of 2.53 (95% confidence interval, 1.71-3.76), and negative likelihood ratio of 0.09 (95% confidence interval, 0.03-0.28). The interobserver and intraobserver agreement were excellent (κ > 80%; P < .001) between expert endoscopists and nonexpert physicians. CONCLUSION: Detection of irregular or spider vascularity on bile duct lesions during DSOC evaluations accurately identifies biliary neoplastic lesions. Prospective multicenter trials are required to evaluate neovasculature as a single factor for predicting neoplasia.


Assuntos
Procedimentos Cirúrgicos do Sistema Biliar , Idoso , Ductos Biliares , Estudos de Coortes , Feminino , Humanos , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Sensibilidade e Especificidade
10.
Dig Dis Sci ; 65(11): 3072-3078, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32909122

RESUMO

BACKGROUND: Virtual reality simulation in gastrointestinal endoscopy is an educational tool that allows repetitive instruction in a non-patient care environment. AIM: To determine the impact of a virtual endoscopy training curriculum applying an objective pre- and post-training analysis on trainee endoscopists. METHODS: A before-after training study was carried out. Subjects were first year fellows of gastroenterology, who completed a questionnaire and then performed two pre-training simulated cases. The virtual endoscopy training curriculum consisted of an 8-h workday utilizing two GI MENTOR™ in a specialized clinical simulation center. After the training, all subjects completed the same two cases they did in the pre-training. Pre- and post-training results' comparisons were made by paired t test. RESULTS: Totally, 126 subjects were included (mean age 30 years, 61% female). A significant improvement from pre- to post-training was observed in psychomotor skills (total time, percentage, and number of balloons exploded) and endoscopic skills (cecal intubation time, percentage of examined mucosa, and efficacy of screening). There was also an improvement in the quality of the endoscopic study; percentage of examined mucosa over 85% showed a significant improvement post-training with an adjusted OR of 2.72 (95% CI 1.51-4.89, p = 0.001). CONCLUSIONS: Virtual endoscopy training curriculum produces a significant improvement in the trainee endoscopists performance and their psychomotor skills and introduces the concept of a quality endoscopic study in a non-patient, risk-free environment.


Assuntos
Competência Clínica , Educação de Pós-Graduação em Medicina/métodos , Endoscopia Gastrointestinal/educação , Gastroenterologia/educação , Treinamento por Simulação/métodos , Adulto , Argentina , Currículo , Avaliação Educacional , Feminino , Humanos , Internato e Residência , Masculino
11.
Rev Esp Enferm Dig ; 112(6): 501-502, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32379475

RESUMO

The case was an 82-year-old Hispanic female who complained of painless jaundice and weight loss. Endoscopic retrograde cholangiopancreatography (ERCP) showed a distal common bile duct (CBD) stricture with dilatation of the intra and extra-hepatic bile ducts.


Assuntos
Ductos Biliares Extra-Hepáticos , Carcinoma Neuroendócrino , Idoso de 80 Anos ou mais , Colangiopancreatografia Retrógrada Endoscópica , Ducto Colédoco , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/etiologia , Feminino , Humanos
12.
Endosc Int Open ; 7(9): E1061-E1063, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31475222

RESUMO

Background and study aims Gastric variceal bleeding management is challenging, especially in the pediatric population. Endoscopic cyanoacrylate glue injection is considered the standard for management of gastric varices but it is associated with a high rebleeding rate. Endoscopic ultrasound (EUS)-guided placement of coils with cyanoacrylate is a newly available technique with a lower rebleeding rate but there are no reported cases using this technique in pediatric patients. We report on a 12-year-old child with liver cirrhosis and gastric variceal hemorrhage who was refractory to the endoscopic cyanoacrylate injection and in whom hemostasis was achieved without rebleeding following EUS-guided coiling and cyanoacrylate injection. Neither rebleeding nor varix reappearance was noted on 12-month follow-up. EUS-guided coiling and cyanoacrylate injection is safe and feasible in pediatric patients and could be considered as rescue therapy for treatment of refractory gastric variceal bleeding.

14.
Cir. gen ; 34(3): 217-220, jul.-sept. 2012. ilus
Artigo em Espanhol | LILACS | ID: lil-706873

RESUMO

Objetivo: Describir el caso de un hematoma subcapsular hepático roto con desarrollo de choque hipovolémico como una complicación inusual secundaria a la realización de colangiopancreatografía retrógrada endoscópica. Sede: Hospital de segundo nivel, Hospital General Xoco. Diseño: Reporte de un caso. Descripción del caso: Mujer de 66 años quien ingresa mediante el Servicio de Urgencias con diagnóstico de coledocolitiasis; decidiendo su manejo con colangiopancreatografía retrógrada endoscópica, la cual se realiza 24 horas después. En ésta se corrobora la presencia de litos en colédoco, observando la salida de material purulento de la vía biliar; durante el evento, ella presenta desaturación con la necesidad de manejo mecánico de la vía aérea y manejo por terapia intensiva con alteraciones primordialmente ventilatorias; veinticuatro horas después presenta estado de choque de inicio súbito con abdomen agudo, por lo que se decide manejo quirúrgico, en el cual se evidencia hematoma hepático subcapsular roto con 2,000 ml de hemoperitoneo. La paciente presenta complicaciones por estado de hipovolemia, alteraciones ventilatorias, coagulopatía y fondo infeccioso en vía biliar que conllevan al desenlace fatal. Conclusión: El hematoma subcapsular relacionado a la realización de la colangiopancreatografía retrógrada endoscópica es una entidad infrecuente; éste es el decimocuarto caso reportado y el primero con ruptura.


Objective: To describe a case of ruptured hepatic subcapsular hematoma accompanied by hypovolemic shock as an unusual complication secondary to an endoscopic retrograde cholangiopancreatography. Setting: Second level health care hospital. General Hospital Xoco, Mexico City. Design: Case report. Description of the case: A 66-year old woman, who was admitted through the emergency ward with a diagnosis of choledocholithiasis, and who was subjected to endoscopic retrograde cholangiopancreatography, performed 24 h after admission, confirming the presence of stones in the choledochus, observing discharge of purulent matter from the biliary tract; during the event, she presented desaturation, needing mechanical handling of the airways and intensive therapy management, with mainly ventilatory alterations. Twenty-four hours afterwards she presented a state of shock of sudden onset together with acute abdomen; surgical management was then decided, evidencing a ruptured hepatic subcapsular hematoma with 2000 ml of hemoperitoneum. Patient presenting complications due to hypovolemic state, ventilatory alterations, infectious focus in the biliary tract that lead to fatal outcome. Conclusion: A subcapsular hematoma related to endoscopic retrograde cholangiopancreatography is an infrequent entity; this is the 14th reported case and the first with rupture.

15.
Saúde Soc ; 21(1): 63-75, jan.-mar. 2012.
Artigo em Espanhol | LILACS | ID: lil-625351

RESUMO

El objetivo de este artículo es conocer la visión, tanto de los usuarios como de los profesionales, sobre determinados aspectos de la gestión del Sistema Nacional Español de Salud (SNS), especialmente, en la atención a la diversidad. Para ello, se analiza el modelo de acceso al sistema, los recursos empleados en la atención y la demanda sanitaria que realizan los inmigrados asentados en Andalucía (España). Los datos se han obtenido a partir de la realización de 15 entrevistas semiestructuradas a inmigrantes y otras 7 a profesionales del sistema andaluz de salud. Además, el trabajo de campo está complementado por una observación directa, durante un año, del uso de los servicios públicos de salud. Los resultados muestran, primero, que a pesar de que los inmigrantes tienen un acceso universal a la atención sanitaria, deben sortear una serie de barreras administrativas, lingüísticas y culturales que impiden un uso totalmente satisfactorio. Límites que son eludidos, en la mayoría de las ocasiones, a través de las redes sociales. Segundo, los recursos utilizados no se han adaptado a las necesidades específicas de la población inmigrada, como son la acumulación del bien salud, valoración subjetiva sobre bien salud y las agresiones o deterioros que sufre el bien salud. Y, tercero, el uso que hacen los inmigrados del sistema de salud no difiere del realizado por los autóctonos tanto en la frecuencia, como en la patología.


Assuntos
Humanos , Acessibilidade aos Serviços de Saúde , Diversidade Cultural , Gestão em Saúde , Emigração e Imigração , Antropologia Cultural
16.
J Otolaryngol Head Neck Surg ; 40(2): 93-103, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21453644

RESUMO

OBJECTIVE: Some patients with the syndrome of mitochondrial diabetes and deafness (MIDD) have a m.3243A>G mutation of the MTTL1 gene encoding transfer ribonucleic acid for the amino acid leucine (tRNALeu(UUR)). One of our MIDD patients inspired us to propose an integrated view on how a single mutation of the mitochondrial deoxyribonucleic acid (DNA) affects both the glucose metabolism and the inner ear physiology. DESIGN: (a) Study of mitochondrial DNA in a patient with MIDD. (b) REVIEW OF THE LITERATURE on the impact of the m.3243A>G mutation on glucose metabolism and on the physiology of the hearing process. SETTINGS: Outpatient diabetes and nutrition department and molecular nutrition laboratory. METHODS: (a) Polymerase chain reaction followed by restriction fragment analysis identified the m.3243A>G mutation. (b) REVIEW OF THE LITERATURE from 1994 to 2009. RESULTS: (a) Molecular study: the m.3243A>G mutation was detected with an appreciable level of heteroplasmy. (b) REVIEW OF THE LITERATURE: the strial marginal cells located near the organ of Corti fulfill two characteristics: they are rich in mitochondria, and their dysfunction may produce neurosensorial deafness by means of a reduction in the potassium ion concentration of the endolymph. CONCLUSIONS: The m.3243A>G mutation not only underlies a dysfunction of the insulin-producing beta cell of the pancreas but also results in a reduction in adenosine triphosphate production of the strial marginal cells of the inner ear, thus diminishing the energy (in the form of potassium ion gradient) needed for the outer hair cells of the organ of Corti to amplify the soundwaves, particularly at high frequencies.


Assuntos
DNA Mitocondrial/genética , Surdez/fisiopatologia , Diabetes Mellitus Tipo 1/genética , Perda Auditiva Neurossensorial/genética , Doenças Mitocondriais/genética , Mutação Puntual , Estria Vascular/fisiologia , Surdez/complicações , Surdez/genética , Diabetes Mellitus Tipo 1/complicações , Fenômenos Eletrofisiológicos , Feminino , Células Ciliadas Auditivas Externas/fisiologia , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Canais de Potássio/fisiologia
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