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BACKGROUND: Weeksella virosa pneumonia is an infection that has been described as a healthcare-associated infection. This is a rare gram-negative anaerobic bacterium associated with the use of mechanical ventilation for a long period of time and is more frequent in immunosuppressed patients. This is the first case reported in the state of Veracruz and the second in Mexico. CASE PRESENTATION: We present the case of a 64-year-old female from Veracruz, Mexico who developed an infectious process in the right pelvic limb after a transcatheter aortic valve replacement procedure and subsequently developed sudden cardiorespiratory arrest requiring mechanical ventilation, with subsequent imaging studies demonstrating a pneumonic process associated with a nosocomial infection. DISCUSSION AND CONCLUSIONS: We should take into consideration that this pathogen affects not only adults with multiple comorbidities but also children with renal, hepatic, or oncological pathologies, as well as immunocompromised patients, who should be considered high-risk populations for W. virosa infection.
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Infección Hospitalaria , Neumonía Asociada al Ventilador , Adulto , Femenino , Niño , Humanos , Persona de Mediana Edad , Neumonía Asociada al Ventilador/diagnóstico , Composición de Base , Filogenia , ARN Ribosómico 16S , Análisis de Secuencia de ADN , Bacterias Aerobias , Infección Hospitalaria/diagnósticoRESUMEN
Background and objective: Diabetic kidney disease (DKD) is the most common microvascular chronic complication of diabetes mellitus. Hyperbaric oxygen (HBO2) therapy will increase the partial pressure of oxygen (PaO2) and may improve cell repair processes, which can lead to better renal function. The objective of this study was to quantify the efficacy of adjuvant HBO2 to increase the glomerular filtration rate and urinary albumin excretion in diabetic patients, as well as determine its effectiveness to modify the clinical course of DKD. Materials and methods: An experimental study was performed on patients with stage 3 and 4 DKD. Twenty sessions of HBO2 or ambient air in a hyperbaric chamber were administered. Estimated glomerular filtration rate, urine albumin:creatinine ratio calculation and clinical stage stratification were made prior to and after HBO2 administration. A descriptive, inferential and clinical efficacy analysis was performed. Results: Urinary albumin/creatinine (UACR) mean values prior to HBO2 were 1452.9 ± 644.3 mg/g and decreased to 876.1 ± 504.0 mg/g at the end of the study (p=0.06). The patients in the control group showed a UACR mean of 2784.5 ± 2128.6 mg/g and 2861.4 ± 2424.2 mg/g at baseline and at the end of the study, respectively (p=0.82). Patients in the experimental/HBO2 group showed an estimated GFR of 27.3 ± 9.5 mL/min /1.73m2 before HBO2, with a 34.4 ± 6.9 mL/min/1.73m2 after treatment (p=0.017); control group eGFR was 30.1 ± 9.2 mL/min/1.73m2, decreasing to 22.2 ± 6.8 mL/min/1.73m2 (p=0.004). Relative risk 0.00, relative risk reduction -100%, absolute risk reduction -71.4%, 95% CI (-104.9% to -38.0%), NNT 1, 95% CI (1 to 3). Conclusions: Management with HBO2 for DKD was associated with decreased excretion urinary albumin, improved GFR and clinical stage of patients in stages 3 and 4 of kidney damage unlike those receiving ambient air..
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Nefropatías Diabéticas/terapia , Oxigenoterapia Hiperbárica , Adulto , Anciano , Albúminas/metabolismo , Estudios de Casos y Controles , Creatinina/orina , Nefropatías Diabéticas/fisiopatología , Nefropatías Diabéticas/orina , Femenino , Tasa de Filtración Glomerular/fisiología , Humanos , Oxigenoterapia Hiperbárica/estadística & datos numéricos , Hipertensión/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
BACKGROUND AND OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data. METHODS: We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data. RESULTS: Fatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment. CONCLUSIONS: We have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development.
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Músculo Esquelético/diagnóstico por imagen , Distrofia Muscular Oculofaríngea/diagnóstico por imagen , Adulto , Estudios de Cohortes , Estudios Transversales , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Distrofia Muscular Oculofaríngea/complicaciones , Distrofia Muscular Oculofaríngea/patología , Tomografía Computarizada por Rayos XRESUMEN
Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), in which carriers of the GDAP1 p.R120W mutation can display a wide range of clinical severity. We investigated the JPH1 gene as a genetic modifier of clinical expression variability because junctophilin-1 (JPH1) is a good positional and functional candidate. We demonstrated that the JPH1-GDAP1 cluster forms a paralogon and is conserved in vertebrates. Moreover, both proteins play a role in Ca(2+) homeostasis, and we demonstrated that JPH1 is able to restore the store-operated Ca(2+) entry (SOCE) activity in GDAP1-silenced cells. After the mutational screening of JPH1 in a series of 24 CMT2K subjects who harbour the GDAP1 p.R120W mutation, we characterized the JPH1 p.R213P mutation in one patient with a more severe clinical picture. JPH1(p.R213P) cannot rescue the SOCE response in GDAP1-silenced cells. We observed that JPH1 colocalizes with STIM1, which is the activator of SOCE, in endoplasmic reticulum-plasma membrane puncta structures during Ca(2+) release in a GDAP1-dependent manner. However, when GDAP1(p.R120W) is expressed, JPH1 seems to be retained in mitochondria. We also established that the combination of GDAP1(p.R120W) and JPH1(p.R213P) dramatically reduces SOCE activity, mimicking the effect observed in GDAP1 knock-down cells. In summary, we conclude that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations.
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Enfermedad de Charcot-Marie-Tooth/genética , Enfermedad de Charcot-Marie-Tooth/patología , Proteínas de la Membrana/genética , Proteínas del Tejido Nervioso/genética , Proteínas del Tejido Nervioso/metabolismo , Animales , Calcio/metabolismo , Línea Celular , Enfermedad de Charcot-Marie-Tooth/metabolismo , Evolución Molecular , Genes Modificadores , Predisposición Genética a la Enfermedad , Humanos , Proteínas de la Membrana/metabolismo , Ratones , Mitocondrias/metabolismo , Mutación , Proteínas de Neoplasias/metabolismo , Filogenia , Molécula de Interacción Estromal 1RESUMEN
Background: Hand injuries resulting from accidents at work are one of the main causes of disability in workers. Every worker ruled with Partial Permanent Disability must legally be reinstated to the same workplace. Objective: To know the prevalence of reintegration and causes of non-reintegration into workers with Partial Permanent Disability due to hand injuries. Material and methods: A descriptive, observational, and retrospective study, which included 100% of the opinions of Parcial Permanent Disability due to hand injuries, generated from 2012 to 2016 at UMF 61 of Veracruz. Results: 143 cases were analyzed, 127 (88.8%) were men and 16 (11.2%) women, with a mean age of 37.3 ± 11.6 years. Labor reintegration in the same company occurred in 60 (42%) of the cases, 50 (35%) were reinstated in another company and 33 (23.1%) were not reinstated to work. Regarding work termination: 51 (35.7%) workers were laid off after their ruling, 13 (9.1%) resigned, 12 (8.4%) terminated their contract, and 7 (4.9%) were retired. Currently 72 (50.3%) workers continue to perform physical work and 18 (12.6%) did not return to work. Conclusions: Labor reintegration occurred in less than half of the cases ruled. The main cause of the non-reintegration was the unjustified dismissal by the company where the accident occurred. Not reintegrating into the same workplace has: legal, economic, medical and social implications to the worker.
Introducción: las lesiones de mano derivadas de accidentes de trabajo constituyen una de las principales causas de discapacidad en los trabajadores. Todo trabajador dictaminado con Incapacidad Permanente Parcial (IPP), jurídicamente debe ser reinsertado a su mismo centro de trabajo. Objetivo: conocer la prevalencia de reinserción y causas de no reinserción laboral en trabajadores con IPP por lesiones de mano. Material y Métodos: estudio descriptivo, observacional y retrospectivo, que incluyó el 100% de los dictámenes de IPP por lesiones de mano, generados del 2012 al 2016 en la UMF 61 de Veracruz. Resultados: se analizaron 143 casos, 127 (88.8%) fueron hombres y 16 (11.2%) mujeres, con edad media 37.3 ± 11.6 años. La reinserción laboral en la misma empresa se presentó en 60 (42%) de los casos, 50 (35%) se reinsertaron en otra empresa y 33 (23.1%) no se reinsertaron al trabajo. Respecto de la terminación laboral: 51 (35.7%) trabajadores fueron despedidos posterior a su dictaminación, 13 (9.1%) renunciaron, 12 (8.4%) finalizaron su contrato, y 7 (4.9%) fueron jubilados. Actualmente 72 (50.3%) trabajadores continúa realizando un trabajo físico y 18 (12.6%) no volvió a trabajar. Conclusiones: la reinserción laboral se presentó en menos de la mitad de los casos. La principal causa de no reinserción fue el despido injustificado por la empresa donde ocurrió el accidente. No reintegrarse al mismo centro de trabajo conlleva implicaciones: legales, económicas, médicas y sociales al trabajador.
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Personas con Discapacidad , Traumatismos de la Mano , Accidentes de Trabajo , Adulto , Empleo , Femenino , Traumatismos de la Mano/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Lugar de TrabajoRESUMEN
BACKGROUND: Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. At least 45 loci have been identified in families with autosomal dominant (AD), autosomal recessive (AR), or X-linked hereditary patterns. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. METHODS: We defined the SPAST and ATL1 mutational spectrum in a total of 370 unrelated HSP index cases from Spain (83% with a pure phenotype). RESULTS: We found 50 SPAST mutations (including two large deletions) in 54 patients and 7 ATL1 mutations in 11 patients. A total of 33 of the SPAST and 3 of the ATL1 were new mutations. A total of 141 (31%) were familial cases, and we found a higher frequency of mutation carriers among these compared to apparently sporadic cases (38% vs. 5%). Five of the SPAST mutations were predicted to affect the pre-mRNA splicing, and in 4 of them we demonstrated this effect at the cDNA level. In addition to large deletions, splicing, frameshifting, and missense mutations, we also found a nucleotide change in the stop codon that would result in a larger ORF. CONCLUSIONS: In a large cohort of Spanish patients with spastic paraplegia, SPAST and ATL1 mutations were found in 15% of the cases. These mutations were more frequent in familial cases (compared to sporadic), and were associated with heterogeneous clinical manifestations.
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Adenosina Trifosfatasas/genética , GTP Fosfohidrolasas/genética , Paraplejía Espástica Hereditaria/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Análisis Mutacional de ADN , Proteínas de Unión al GTP , Genotipo , Humanos , Lactante , Proteínas de la Membrana , Persona de Mediana Edad , Linaje , Fenotipo , Reacción en Cadena de la Polimerasa , Espastina , Población Blanca/genética , Adulto JovenRESUMEN
OBJECTIVE: To validate an instrument to evaluate the clinic aptitude of the pregraduate intern in the integral attention of the diabetic patient with chronic complications at home. METHODS: A comparative cross-sectional study; 114 pregraduate interns from five medical units were included to determine the clinic aptitude by an instrument with five real clinical cases of diabetic patients. Seven clinical indicators and 175 statements were used. The instrument was validated with two rounds of experts and the trustworthiness with a pilot group. Nonparametric statistics were used. RESULTS: The consistency of the instrument was of 0.91. The clinic aptitude of the pregraduate interns was low and very low, except in a medical units that resulted intermediate. When comparing the five medical units, there were significant differences in the global qualification in six of the seven indicators. CONCLUSIONS: The instrument fulfilled the requirements of validity.
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Complicaciones de la Diabetes/terapia , Evaluación Educacional , Internado y Residencia , Encuestas y Cuestionarios , Enfermedad Crónica , Estudios Transversales , Servicios de Atención de Salud a Domicilio , HumanosRESUMEN
BACKGROUND: The most common cause of injury is shoulder impingement syndrome. Management includes physical therapy, analgesics, steroids and surgery. The aim of the study was to determine the cost-effectiveness of using steroids combined with therapeutic exercise at home in the chronic impingement syndrome. METHODS: Clinical trial randomized in 30 people with subacromial impingement syndrome underwent two treatments: steroid and at home rehabilitation booklet evaluated at the first and fourth week through UCLA Shoulder rating scale. RESULTS: We studied 17 men (56.7 %) and 13 women (43.3 %), mean age was 42.87 years. Group 2 earned greater improvement in UCLA Shoulder rating scale 18.87 at baseline and 27.60 at the end. With 30.27 accumulated disability days for group 1, and 14.80 for group 2. CONCLUSIONS: The combination of local steroids with therapeutic exercise is more effective clinically and declining disability compared to conventional physical therapy.
INTRODUCCIÓN: la causa de lesión de hombro más frecuente es el síndrome de pinzamiento subacromial. Su manejo incluye fisioterapia, analgésicos, esteroides y cirugía. El objetivo de este trabajo fue determinar el costo-efectividad del uso de esteroides combinado con ejercicio terapéutico en casa en el síndrome de pinzamiento subacromial (SIS). MÉTODOS: ensayo clínico aleatorizado en 30 trabajadores con síndrome de pinzamiento subacromial sometidos a dos tratamientos: esteroide con folleto de rehabilitación en casa y terapia de rehabilitación convencional, ambos grupos evaluados a la primera y cuarta semana mediante la escala de hombro de UCLA. RESULTADOS: estudiamos a 17 hombres (56.7%) y 13 mujeres (43.3%), con edad media de 42.87 años (9.133 DE). El grupo 2 obtuvo mayor mejoría en la escala de evaluación del hombro de la UCLA con una puntuación de 18.87 al inicio y 27.60 al final. Con 30.27 días acumulados de incapacidad para el grupo 1 y 14.80 para el grupo 2. CONCLUSIONES: la combinación de esteroides locales con ejercicio terapéutico es más efectivo clínicamente y reporta una disminución en el número de incapacidades en comparación con la terapia física convencional.
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Corticoesteroides/uso terapéutico , Antiinflamatorios/uso terapéutico , Análisis Costo-Beneficio , Terapia por Ejercicio/economía , Síndrome de Abducción Dolorosa del Hombro/terapia , Adolescente , Adulto , Terapia Combinada , Terapia por Ejercicio/métodos , Femenino , Humanos , Inyecciones Intraarticulares , Masculino , México , Persona de Mediana Edad , Síndrome de Abducción Dolorosa del Hombro/economía , Resultado del Tratamiento , Adulto JovenRESUMEN
BACKGROUND: Neonatal Hearing Screening and Early Intervention (NHSEI) is a screening program to evaluate all infants and identify those with hearing impairment. The objective of this work was to determine the factors associated with hearing loss in NHSEI program. METHODS: Analytical cross-sectional study was performed. 234 infants were included in the NHSEI program, hearing was evaluated with transitory evoked otoacoustic emissions (TEOE) at frequencies of 1.5 to 4.5 kHz, and intensity of stimuli of 40-60 dB. The variables were: age from one to 28 days, sex, gestational age and perinatal history. Data was analyzed with descriptive statistics and binary logistic regression. RESULTS: The presence of risk factors in newborns resulted in significant omnibus test (p < 0.05) predicted value by Nagelkerke R square model of 77%. The background inherited family acquired infection, craniofacial abnormalities, low birth weight, respiratory distress at birth and genetic syndromes were factors significantly associated (p < 0.05) to hearing loss in infants. CONCLUSIONS: The incidence of hearing impairment in infants diagnosed by newborn hearing program was higher (5/234 newborns) than the reported in the literature.
Introducción: el Tamiz Auditivo Neonatal e Intervención Temprana (TANIT) es un programa de cribado que consiste en evaluar a todos los neonatos para identificar discapacidades auditivas. El objetivo de este trabajo fue determinar los factores asociados a hipoacusia en neonatos, basados en el programa TANIT. Métodos: estudio analítico, transversal, en el que se incluyeron 234 neonatos en el programa TANIT. La audición se exploró evaluando las emisiones otoacústicas transitorias evocadas (EOAT) en frecuencias de 1.5 a 4.5 kHz, y los estímulos con intensidad de 40-60 dB. Las variables fueron: edad de uno a 28 días de nacido, sexo, edad gestacional y antecedentes perinatales. Los datos se analizaron con estadística descriptiva y regresión logística binaria. Resultados: la presencia de los factores de riesgo en los neonatos resultó significativa en la prueba de ómnibus (p < 0.05), valor de predicción por el modelo R cuadrado de Nagelkerke de 77%. Los antecedentes heredofamiliares, la infección adquirida, las anormalidades craneofaciales, el bajo peso, la dificultad respiratoria al nacer y los síndromes genéticos fueron factores que se asociaron de manera significativa (p < 0.05) a hipoacusia en neonatos. Conclusiones: la incidencia de deficiencia auditiva en recién nacidos diagnosticada mediante el programa de TANIT fue mayor a la reportada en la literatura (5/234 recién nacidos).
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Intervención Educativa Precoz , Pérdida Auditiva/etiología , Tamizaje Neonatal , Estudios Transversales , Femenino , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/epidemiología , Pérdida Auditiva/terapia , Humanos , Incidencia , Lactante , Recién Nacido , Modelos Logísticos , Masculino , México/epidemiología , Factores de RiesgoRESUMEN
OBJECTIVE: To compare quality of life in climacterical women with and without hormone replacement therapy. MATERIAL AND METHODS: A cross-sectional analytical study was carried out in the Family Medicine Unit number 61 in Veracruz, Veracruz. There were chosen 102 women between 40 and 60 years old. There were two groups: the first one with 51 patients with hormone replacement therapy during the last year; the second one with 51 patients who are not in hormone replacement therapy. Coop/wonca charts were used to measure quality of life. A complementary questionnaire related to climacteric period and menopause was answered by both groups. Statistical test with chi2 was carried out. RESULTS: Health condition and satisfactory sexual life were improved in patients with hormone replacement therapy (30 versus 19, p = 0.007; and 40 cases versus 30, p = 0.04, respectively). No significantly differences were found in six from seven coop/wonca charts. CONCLUSIONS: There were no impact results in climacteric and menopause women. However, a better health condition and satisfactory sexual life were observed in patients with hormonal replacement therapy.
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Menopausia/psicología , Calidad de Vida , Adulto , Estudios Transversales , Femenino , Terapia de Reemplazo de Hormonas , Humanos , Persona de Mediana Edad , Encuestas y CuestionariosRESUMEN
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb-girdle muscular dystrophy, we identified a missense mutation in POGLUT1 (protein O-glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. In vitro and in vivo experiments demonstrated that the mutation reduces O-glucosyltransferase activity on Notch and impairs muscle development. Muscles from patients revealed decreased Notch signaling, dramatic reduction in satellite cell pool and a muscle-specific α-dystroglycan hypoglycosylation not present in patients' fibroblasts. Primary myoblasts from patients showed slow proliferation, facilitated differentiation, and a decreased pool of quiescent PAX7+ cells. A robust rescue of the myogenesis was demonstrated by increasing Notch signaling. None of these alterations were found in muscles from secondary dystroglycanopathy patients. These data suggest that a key pathomechanism for this novel form of muscular dystrophy is Notch-dependent loss of satellite cells.
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Glucosiltransferasas/genética , Distrofias Musculares/genética , Distrofias Musculares/patología , Mutación , Receptores Notch/metabolismo , Células Satélite del Músculo Esquelético/patología , Transducción de Señal , Biopsia , Glicosilación , Glicosiltransferasas/metabolismo , Humanos , Músculos/patología , Análisis de Secuencia de ADN , EspañaAsunto(s)
Malformaciones Vasculares del Sistema Nervioso Central/diagnóstico , Glucocorticoides/efectos adversos , Paraparesia/diagnóstico , Enfermedad Aguda , Malformaciones Vasculares del Sistema Nervioso Central/complicaciones , Glucocorticoides/administración & dosificación , Glucocorticoides/uso terapéutico , Humanos , Inyecciones Intravenosas , Imagen por Resonancia Magnética , Masculino , Metilprednisolona/administración & dosificación , Metilprednisolona/efectos adversos , Metilprednisolona/uso terapéutico , Persona de Mediana Edad , Paraparesia/etiologíaRESUMEN
OBJECTIVE: to assess the specificity and sensibility of the O'Sullivan test for gestational diabetes in early pregnancy. METHODS: a pilot study in 50 women with low-risk of pregnancy, without history of alteration of glucose was done. The O'Sullivan test consisted in the administration of 50 g of glucose; glycemia was measured 60 minutes after, between weeks 14 and 23 and between weeks 24 and 28 of pregnancy. Value was considered positive with a glycemia = 140 mg/dL. We calculated sensitivity, specificity and predictive values. RESULTS: O'Sullivan test performed between weeks 14 and 23 was positive in three pregnant women (6 %), and between weeks 24 and 28, in four (8 %); there was no statistical difference in both measurements (p > 0.05). The sensitivity was 75 % (95 %, CI 30.1 % to 95.4 %), and the specificity 100.0 % (95 %, CI 92.3 % to 100 %). CONCLUSIONS: the O'Sullivan test performed between weeks 14 and 23 of gestation showed good sensitivity and specificity in the diagnosis of early gestational pregnancy.
Objetivo: estimar la sensibilidad y la especificidad diagnóstica de la prueba de O'Sullivan para diabetes gestacional en el embarazo temprano. Metodología: se realizó estudio piloto que incluyó 50 mujeres con embarazo de bajo riesgo, sin alteración de glucosa. Se realizó la prueba de O'Sullivan para identificación de diabetes gestacional entre las semanas 14 y 23, y entre las semanas 24 y 28 para comparar resultados. Se administraron 50 g de glucosa, se cuantificó la glucemia a los 60 minutos y se consideró positiva si los valores eran = 140 mg/dL. Se calcularon sensibilidad, especificidad y valores predictivos. Resultados: la prueba de O'Sullivan entre las semanas 14 y 23 resultó positiva en tres de las gestantes (6 %), y la realizada entre las semanas 24 y 28 fue positiva en cuatro (8 %). No hubo diferencia estadística de la prueba entre ambas mediciones (p > 0.05). La sensibilidad fue de 75 % (IC 95 % de 30.1 % a 95.4 %), la especificidad de 100.0% (IC 95 % de 92.3 % a 100.0 %). Conclusiones: la prueba de O'Sullivan realizada entre las semanas 14 y 23 de gestación mostró buena sensibilidad y especificidad para identificar diabetes gestacional temprana.
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Diabetes Gestacional/diagnóstico , Glucemia/análisis , Diabetes Gestacional/sangre , Femenino , Pruebas Hematológicas , Humanos , Proyectos Piloto , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Sensibilidad y Especificidad , Adulto JovenRESUMEN
Resumen Introducción La fimosis es una condición en la que el prepucio no puede ser retraído sobre el glande. La fimosis fisiológica afecta hasta a 96% de los recién nacidos y persiste hasta los tres o cuatro años de vida; es motivo común de consulta en la atención médica primaria y el tratamiento principal es la circuncisión. Diversos estudios han valorado el uso de esteroides tópicos en la liberación del prepucio fimótico. Objetivo Determinar la efectividad del tratamiento con esteroide tópico para la liberación del prepucio en lactantes con fimosis fisiológica en el Hospital Naval de Especialidades de Veracruz (HOSNAVESVER). Material y métodos Ensayo clínico aleatorizado controlado en lactantes de 30 a 60 días de edad con fimosis fisiológica. Se formaron mediante la aleatorización de tres grupos: A (hidrocortisona 1%/fisioterapia), B (vaselina/fisioterapia) y C (hidrocortisona 1% sola); se comparó su efectividad mediante la escala de Kayaba antes y después del tratamiento. El análisis estadístico se efectuó con pruebas de χ2 y Kruskal-Wallis. Resultados Se incluyeron 61 lactantes. Al inicio, 17 (85.0%) del grupo A, 14 (70.0%) del B y 17 (81.0%) del C estaban en categoría I de Kayaba; al final del tratamiento, 19 (95.0%) del grupo A estaban en categoría III y IV, 18 (90.0%) del grupo B y 19 (90.5%) del grupo C estaban en categoría II y III (p < 0.05). La hidrocortisona/fisioterapia tuvo RR de -93.8%, IC 95% (-99.1 a -57.2%) y NNT de 1, IC 95% (1 a 2). Conclusión La hidrocortisona 1% con fisioterapia mostró mayor efectividad para el tratamiento de la fimosis fisiológica en lactantes de 30 a 60 días de vida.
Abstract Introduction Phimosis is a condition in which the foreskin cannot be retracted on the glans. Physiological phimosis affects up to 96% of newborns, persisting until three or four years of age. It is a common reason for consultation in primary medical care, with the main treatment being circumcision. Several studies have evaluated the use of topical steroids in the release of the foreskin. Objective To determine the effectiveness of topical steroid treatment for the liberation of the prepuce in infants with physiological phimosis in the Naval Hospital of Specialties of Veracruz (HOSNAVESVER). Material and methods Randomized controlled clinical trial in infants between 30 and 60 days of age with physiological phimosis. Three groups were randomized: A (hydrocortisone 1%/physiotherapy), B (petrolatum/physiotherapy) and C (only hydrocortisone 1%), comparing their effectiveness using the Kayaba scale before and after treatment. A statistical analysis was made with χ2 and Kruskal-Wallis tests. Results 61 infants were included. At the beginning, 17 (85.0%) of group A, 14 (70.0%) of B and 17 (81.0%) of C were in category I of Kayaba; at the end of the treatment, 19 (95.0%) of group A were in category III and IV, 18 (90.0%) of group B, and 19 (90.5%) of group C were in category II and III (p < 0.05). Hydrocortisone/physiotherapy had RR of -93.8%, 95% CI (-99.1% to -57.2%) and NNT of 1, 95% CI (1 to 2). Conclusion Hydrocortisone 1% with physiotherapy showed greater effectiveness for the treatment of physiological phimosis in infants between 30 and 60 days of age.
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Resumen Introducción La hiperplasia prostática benigna es el padecimiento urológico más frecuente en hombres mayores de 50 años; sus síntomas afectan la calidad de vida. Los bloqueadores alfa-adrenérgicos son una opción para mejorarla. Objetivo Determinar la calidad de vida de pacientes con hiperplasia prostática benigna antes y después del tratamiento con un bloqueador alfa-adrenérgico. Material y métodos Estudio pretest-retest en hombres de 45 a 75 años con hiperplasia prostática benigna. Se administró tamsulosina (0.4 mg/día) por tres meses y se evaluó la severidad de los síntomas y la calidad de vida con el International Prostate Symptom Score (IPSS) y EuroQol 5-D. Se usaron X2 y prueba de rangos y signos de Wilcoxon. Resultados Se incluyeron 50 pacientes de 63.3 ± 10.3 años, 34 (68.0%) tenían síntomas severos antes del tratamiento y 19 (38.0%) después de tres meses (p < 0.05). Con el IPSS, 33 (66.0%) pacientes estaban en categorías de «tan insatisfecho como insatisfecho¼ a «muy insatisfecho¼ antes de la intervención y seis (12.0%) después de ella. La escala visual análoga (EVA) del EuroQol 5-D mostró puntuación basal de 72.9 ± 11.2 versus 83.4 ± 7.6 después (p < 0.05). Conclusión La tamsulosina reduce la severidad de los síntomas y mejora la calidad en de vida en la hiperplasia prostática benigna después de administrarla tres meses.
Abstract Introduction Benign prostatic hyperplasia is an urological disorder most common in men over 50 years old; the symptoms affect the quality of life. Alpha-adrenergic blockers are an option to improve it. Objective To determine the quality of life of patients with benign prostatic hyperplasia before and after treatment with an alphaadrenergic blocker. Material and methods Pretest-retest study in men of 45 to 75 years with benign prostatic hyperplasia. Tamsulosin was administered (0.4 mg/day) for three months; the severity of symptoms and quality of life were assessed with IPSS and EuroQol 5-D. Ranges and sign of Wilcoxon test and X2 were used. Results Fifty patients were included of 63.3 ± 10.3 years of age, 34 (68.0%) had severe symptoms before the treatment and 19 (38.0%) after three months (p < 0.05). With IPSS, 33 (66.0%) patients were in the categories of «as dissatisfied as unsatisfied¼ and «very dissatisfied¼ before the intervention and six (12.0%) after. The VAS of the EuroQol 5-D showed a baseline score of 72.9 ± 11.2 versus 83.4 ± 7.6 after (p < 0.05). Conclusion Tamsulosin reduces severity of symptoms and improves quality of life in benign prostatic hyperplasia after giving it three months.
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BACKGROUND: prehypertension is the category established in JNC-7, which designates the individuals that present diastolic blood pressure of 80-89 mm Hg and systolic blood pressure of 120-139 mm Hg, and it is associated to high rates of cardiovascular disease. The purpose of the study was to identify prevalence rates and their correlation with sociodemographic factors and comorbidity in a sample of a population of Veracruz, Mexico. METHODS: a cross-sectional and representative survey was chosen by means of probability sampling. Sociodemographic factors, lifestyle and anthropometric characteristics were assessed. Odds ratios and 95 % confidence intervals were obtained. RESULTS: the prehypertension prevalence found was 33.8 %, with an average age of 40.9 ± 14.2 years in prehypertensive subjects, and 50.6 ± 12.7 in hypertension subjects (p < 0.05). In relation with prehypertension, males presented a 1.48 (1.18-1.86) OR. Also, those who had more than 40 years had an OR of 1.9 (1.51-2.38); the ones with basic schooling, an OR of 1.73 (1.38-2.17); subjects with hyperglycemia, OR 3.0 (1.5-3.75); with overweight, OR 1.41 (1.01-1.68); and those with other comorbidities an OR of 1.61 (1.09-2.36). CONCLUSIONS: a high prevalence of prehypertension was found in the sample, and it was associated to male gender subjects, aged above 40 years, with basic schooling and relevant comorbidities, such as diabetes and cardiovascular disease.
Introducción: la prehipertensión arterial es la categoría establecida en el JNC-7 para definir las cifras de presión arterial diastólica de 80-89 y sistólica de 120-139 mm Hg que se asocian a riesgo cardiovascular. El objetivo del estudio fue determinar su prevalencia y su asociación con factores sociodemográficos y de comorbilidad en una muestra representativa de la población del estado de Veracruz. Métodos: por medio de muestreo probabilístico y una encuesta transversal, se registraron variables sociodemográficas, estilo de vida, antropometría, presión arterial y glucosa. Se obtuvieron razones de momios (RM) e intervalos de confianza (IC) del 95 % para los factores de riesgo mencionados. Resultados: la prevalencia de prehipertensión fue de 33.8 %, con edad promedio de 40.9 ± 14.2 años en prehipertensos y 50.6 ± 12.7 en hipertensos (p < 0.05). Para prehipertensión, el sexo masculino presentó RM de 1.48 (1.18-1.86). Asimismo, aquellos mayores de 40 años tuvieron una RM de 1.9 (1.51-2.38); los que tenían escolaridad básica, RM de 1.73 (1.38-2.17); aquellos con hiperglucemia de ayuno, RM de 3.0 (1.5-3.75); con sobrepeso, RM de 1.41 (1.01-1.68); y con otras comorbilidades, una RM de 1.61 (1.09-2.36). Conclusiones: se encontró una elevada prevalencia de prehipertensión en esta muestra de la población y su asociación de riesgo fue con las personas de sexo masculino que eran mayores de 40 años y que tenían escolaridad básica y comorbilidades como diabetes y enfermedad cardiovascular.
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Demografía , Prehipertensión/epidemiología , Adulto , Comorbilidad , Estudios Transversales , Femenino , Humanos , Masculino , México/epidemiología , Prehipertensión/etiología , PrevalenciaRESUMEN
Mitochondrial dysfunction could contribute to the development of spastic paraplegia. Among others, two of the genes implicated in hereditary spastic paraplegia encoded mitochondrial proteins and some of the clinical features frequently found in these patients resemble those observed in patients with mitochondrial DNA (mtDNA) mutations. We investigated the association between common mtDNA polymorphisms and spastic paraplegia. The ten mtDNA polymorphisms that defined the common European haplogroups were determined in 424 patients, 19% with a complicated phenotype. A rare haplogroup was associated with the disease in patients without a SPG3A, SPG4, or SPG7 mutation. Allele 10398G was more frequent among patients with a pure versus complicated phenotype. This mtDNA polymorphism was previously associated with the risk of developing other neurodegenerative diseases. In conclusion, some mtDNA polymorphisms could contribute to the development of spastic paraplegia or act as modifiers of the phenotype.
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ADN Mitocondrial/genética , Haplotipos/genética , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de Restricción/genética , Paraplejía Espástica Hereditaria/genética , ATPasas Asociadas con Actividades Celulares Diversas , Adenosina Trifosfatasas/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Proteínas de Unión al GTP/genética , Humanos , Lactante , Masculino , Proteínas de la Membrana/genética , Metaloendopeptidasas/genética , Persona de Mediana Edad , Fenotipo , Espastina , Adulto JovenRESUMEN
The objective was to determine the effect of lifestyle modification on cardiovascular risk in individuals with prehypertension, which is defined as a systolic blood pressure between 120 mmHg and 139 mmHg and a diastolic pressure between 80 mmHg and 89 mmHg. A randomized clinical trial was carried out in prehypertensives to compare those who took part in a program involving dietary modification, physical activity and educational sessions with those who followed normal recommendations. Cardiovascular risk was evaluated using the Framingham risk score and the chi-squared test, the Mann-Whitney U-test and the Friedman test. The mean Framingham score in the intervention group decreased from 5 (rank, -10 to 12) to 3.5 (rank, -11 to 10; P< .05) and the probability of a cardiovascular event at 10 years decreased from 5.29+/-3.88 to 4.24+/-2.86 (P< .05). This improvement was associated with a relative risk of 0.30 (95% confidence interval, 0.11 to 0.83) and a relative risk reduction of -69.8% (95% confidence interval -89% to -16.9%). There was no change in control subjects. Lifestyle modification decreased cardiovascular risk in individuals with prehypertension.
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Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/prevención & control , Hipertensión/complicaciones , Estilo de Vida , Adulto , Glucemia , Presión Sanguínea/fisiología , Peso Corporal/fisiología , Femenino , Humanos , Hipertensión/fisiopatología , Masculino , México/epidemiología , Persona de Mediana Edad , Medición de Riesgo , Factores de Riesgo , Cese del Hábito de Fumar , Encuestas y CuestionariosRESUMEN
We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin in the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack complex (MAC) deposition either in vacuoles or muscle fibers. The presence of rimmed vacuoles can be a histopathological finding in X-EDMD, and the diagnosis should not be excluded in clinically well-defined EDMD patients because of this finding.
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Proteínas de la Membrana/genética , Distrofia Muscular de Emery-Dreifuss/genética , Distrofia Muscular de Emery-Dreifuss/patología , Timopoyetinas/genética , Vacuolas/patología , Adulto , Biopsia , Distrofina/metabolismo , Eliminación de Gen , Humanos , Inmunohistoquímica , Laminina/metabolismo , Masculino , Proteínas Nucleares , Fenotipo , Hermanos , Vacuolas/metabolismoRESUMEN
Introduction Burnout syndrome is one of the most studied manifestations of job stress. The burnout concept was used by the first time in the area of psychology by Freudenberger in 1974. This psychologist defined it as a condition of fatigue or frustration that is produced by the commitment to a reason, lifestyle or relationship that does not produce the expected effort. Afterwards, Maslach and Jackson proposed three interrelated dimensions: emotional weariness (EW) which estimates the experience of emotional fatigue for the demands of work; the depersonalization (DP) which measures the answers of impersonal type and negative attitudes towards the patients; and the personal accomplishment (PA) which reflects the personal satisfaction and the competition in the practice of the daily work. These dimensions are joined in the Maslach Burnout Inventory (MBI) that is used to measure the afore mentioned syndrome. Several studies have demonstrated the presence of burnout syndrome among medical and paramedic personnel. The close contact with the patients and the work overload are the main reasons of this syndrome. In a multicentre study carried out among 248 doctors of the United States, 40% presented the syndrome with emotional detriment, which coincides with another study carried out with nurses attending patients with palliative care and marrow transplants. Also, in a study carried out among residents of internal medicine of the University of Washington, there was a prevalence of 76% of professional wear, with an autoperception of a lower quality in the professional care of the patients, after comparing them with non-affected residents. In Mexico, a study that investigated burnout level in a group of 450 medical practitioners, nurses and paramedics of 12 institutions revealed the following information: 10.9% presented emotional weariness, 19.6%, depersonalization, and 74.9, low personal accomplishment. Palmer et al. determined a general prevalence of 44% of the syndrome in anesthesiologists. The work overload and the conflict of values were variables that influenced the presence of this syndrome. At the Instituto Mexicano del Seguro Social, Aranda et al., carried out a study among family physicians, where the prevalence of burnout syndrome was 42.3%. Likewise, Cabrera et al., found that, out of 236 studied nurses, 92 (39%) had information compatible with burnout syndrome, with statistically significant differences for the age and the antiquity in the place after comparing them with nurses without burnout syndrome. The burnout syndrome was considered by the World Health Organization as work risk. Its trascendence is rooted in the impact it has in the labor relation between medical and/or paramedic personnel and the health institutions. For this reason, we considered it important to investigate the presence of this syndrome among the medical and paramedic personnel working at hospital of the Mexican social security. Material and Methods Design: Transversal comparative survey. Population: Of a total population of 240 workers of the health area assigned to a general hospital a sample of 160 was obtained that included doctors, nurses and medical assistants based on an average prevalence of the syndrome in 30%, with an alpha level of 0.05 and a power of 90%. Instrument of evaluation: The survey was based on the following sociodemographic and labor variables: age, marital status, academic level, labor antiquity, antiquity of adscript ion to the hospital, category, service and labor shift. To evaluate the burnout syndrome, the MBI questionnaire was used in its previously validated Spanish version. The afore mentioned instrument is an objective way of measuring and determining the burnout level that a person experiences, in its three subscales: EW, DP and PA. The survey consists of 22 items with a Likert type punctuation scale (0-6), of which 9 valued EW, 5, DP, and 8, PA. With regard to the EW, which values the sensation of being emotionally exhausted by the daily contact with people to whom it is necessary to attend as object of work, a punctuation of 27 or higher indicated a high level; between 19 and 26, moderated; and lower than 19, low. In the subscale DP, which measures the degree in which the response towards the patients is cold, distant and impersonal, punctuations above 10 indicated a high level; from 6 to 9, moderated; lower than 6, low. In the subscale PA, which values the feelings of competition and efficiency for the accomplishment of the work and the relation with the people who are being attended, values above 40 indicated personal high accomplishment; from 34 to 39, intermediate; and under 33, low. In the case of obtaining a low emotional depletion, a low depersonalization and a high personal accomplishment, it was considered that no burnout was present. In the rest of the cases, the presence of burnout syndrome was established. Compilation of the information: From August to December, 2005, the survey was applied to each of the workers, indicating them that they should answer and return it in a term not longer than five days. They were all informed previously about the general objectives of the study and its confidential and anonymous character. The head investigator integrated later on the database. Statistical tests: Descriptive and inferential statistics were carried out. The odds ratio and confidence intervals of 95% were calculated to measure the association between the sociodemographic and labor factors with the professional wear. Results Of 160 workers to whom the survey MBI was applied, only 146 returned it in a complete form. Regarding the frequency and the percentages of the three categories studied with the qualifications of low, average and high for every subscale that composes the burnout syndrome, it was observed that the highest evaluations fit the medical assistants. There was a 19.6% prevalence of burnout syndrome among the groups of doctors with at least one of three disturb subscales. Likewise, it was observed that all medical assistants had an alteration of a minimum of two subscales. The nursing personnel did not present information that constitutes a risk for the development of burnout syndrome. Only four sociodemographic and labor variables were found as risk factors for the presence of burnout syndrome, as well as their relation with each of the subscales composing it. When the variables compared age, labor antiquity and time of adscript ion in the service with each of the subscales of the burnout, we observed that depersonalization appeared in older workers and longer antiquity in the position and the lack of personal accomplishment in workers with longer time in the service. There were no statistically significant differences in the subscale of emotional weariness. Discussion In the last years, burnout syndrome has acquired special relevance, mainly because of the series of repercussions that it has in the labor and personal area. Numerous studies exist on the prevalence of this syndrome in different health professionals, but in present work incorporated medical assistants, since they are those who have the first contact with the patients in our institution.
Introducción El concepto de burnout fue utilizado por primera vez en el ámbito de la psicología por Freudenberger en el año de 1974. Este psicólogo lo definió como un estado de fatiga o frustración que se produce por la dedicación a una causa, forma de vida o relación que no produce el esperado esfuerzo. Más tarde, Maslach y Jackson propusieron tres dimensiones interrelacionadas: el cansancio emocional (CE), la despersonalización (DP) y la realización personal (RP). Estas dimensiones se integran en el cuestionario Maslach Burnout Inventory (MBI) que se utiliza para medir dicho síndrome. Material y métodos Diseño: Encuesta transversal comparativa. Población: Se entregó el cuestionario MBI a 160 trabajadores del área de la salud adscritos al Hospital General de Zona con Medicina Familiar 36 de la Ciudad de Cardel, Veracruz. Instrumento de evaluación: Se construyó una encuesta sobre las siguientes variables sociodemográficas y laborales: edad, estado civil, nivel académico, antigüedad laboral, antigüedad de adscripción al hospital, categoría, servicio y turno laboral. Para evaluar el síndrome de burnout se utilizó el cuestionario MBI en su versión en español. Dicho instrumento consta de 22 ítems con escala de puntuación tipo Likert (0-6), de los cuales 9 valoran CE, 5 la DP y 8 la RP. Recolección de la información: Durante el periodo comprendido de agosto a diciembre del 2006 se entregó el cuestionario a cada uno de los trabajadores de la salud. Pruebas estadísticas: Se realizó estadística descriptiva e inferencial. Se calculó la razón de momios e intervalos de confianza de 95% para medir la asociación entre los factores sociodemográficos y laborales con el desgaste profesional. Resultados De 160 trabajadores a quienes se les entregó el cuestionario MBI, sólo 146 lo regresaron en forma completa. En lo que respecta a la frecuencia y los porcentajes de las tres categorías estudiadas se observó que las evaluaciones más altas corresponden a las asistentes médicas. Hubo una prevalencia del síndrome de burnout entre el grupo de médicos del 19.6% con al menos una de las tres subescalas alteradas. Asimismo se observa que en todas las asistentes médicas hubo alteración de un mínimo de dos subescalas. Sólo se encontraron cuatro variables sociodemográficas y laborales como factores de riesgo para la presencia del síndrome de burnout, así como su relación con cada una de la subescalas que lo componen. Discusión Existen numerosos estudios sobre la prevalencia de este síndrome en diferentes profesionales de la salud, pero en el presente trabajo se incorpora a las asistentes médicas, ya que son quienes tienen un primer contacto con los pacientes en nuestra institución. Las cifras de prevalencia del síndrome de burnout reportadas por otros estudios realizados en México entre el personal médico van desde el 42.3% y 44% hasta 50%; en esta investigación la prevalencia fue menor y la dimensión de cansancio emocional es la más afectada. Entre las variables que se consideraron factores de riesgo en nuestro estudio se encuentra el estado civil. Asimismo, el trabajar en el turno vespertino y ofrecer sus servicio en la consulta externa también estuvieron relacionados con mayor predisposición al síndrome de burnout. Al igual que otros estudios, en esta investigación se encontró un mayor nivel de Burnout en profesionales con mayor edad. En lo que respecta a la DP y RP, éstas se presentaron en trabajadores cuya antigüedad laboral era mayor. En conclusión, la prevalencia del síndrome de burnout entre las asistentes médicas es muy alta y es necesario adoptar medidas para evitar el desarrollo de esta patología.