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1.
Ultrasound Obstet Gynecol ; 64(1): 112-119, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38285441

RESUMEN

OBJECTIVES: To assess the evolution of levator ani muscle (LAM) avulsion from 1 year to 8 years after first delivery in women with and those without subsequent vaginal delivery. In addition, to assess whether women with full or partial avulsion 8 years after first delivery have larger LAM hiatal area and more symptoms of pelvic organ prolapse compared to women with normal LAM insertion. METHODS: In this single-center longitudinal study, 195 women who were primiparous at the start of the study were included and underwent transperineal ultrasound examination 1 year and 8 years after first delivery. Muscle insertion was assessed by tomographic ultrasound imaging in the axial plane. Full LAM avulsion was defined as abnormal muscle insertion in all three central slices. Partial LAM avulsion was defined as abnormal muscle insertion in one or two central slices. Eight years after the first delivery, LAM hiatal area was assessed at rest, during maximum pelvic floor muscle contraction and on maximum Valsalva maneuver. To assess symptoms of pelvic organ prolapse, the vaginal symptoms module of the International Consultation on Incontinence Questionnaire was used. RESULTS: At 1-year follow-up, 25 (12.8%) women showed signs of LAM avulsion, of whom 20 fulfilled the sonographic criteria of full avulsion and five of partial avulsion. Eight years after the first delivery, 35 (17.9%) women were diagnosed with avulsion, of whom 25 were diagnosed with full avulsion and 10 with partial avulsion. No woman with partial or full avulsion at 1 year had improved avulsion status at 8-year follow-up. Of the 150 women who had subsequent vaginal delivery, 21 (14.0%) women were diagnosed with partial or full LAM avulsion 1 year after first delivery, and 31 (20.7%) women were diagnosed with partial or full avulsion 8 years after first delivery. Of the 45 women without subsequent vaginal delivery, one woman with partial avulsion 1 year after first delivery was diagnosed with full avulsion at 8-year follow-up. All women with full avulsion at 1-year follow-up were diagnosed with full avulsion at 8-year follow-up regardless of whether they had subsequent vaginal delivery. At 8-year follow-up, women with full avulsion had statistically significantly larger LAM hiatal area compared to women with normal muscle insertion. Mean ± SD vaginal symptom scores ranged between 5.5 ± 5.7 and 6.0 ± 4.0 and vaginal symptom quality of life scores ranged between 0.9 ± 1.4 and 1.5 ± 2.2 and did not differ significantly between women with normal muscle insertion and women with partial or full avulsion at 8-year follow-up. CONCLUSIONS: More LAM avulsions were present 8 years compared with 1 year after first delivery in women with subsequent vaginal delivery. Except for one primipara, all women without subsequent vaginal delivery had unchanged LAM avulsion status between 1 year and 8 years after their first delivery. Larger LAM hiatal area was found in women with full avulsion compared to those with normal muscle insertion at 8-year follow-up. Vaginal symptoms scores were low and did not differ between women with normal muscle insertion and those with partial or full avulsion at 8-year follow-up. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Asunto(s)
Parto Obstétrico , Diafragma Pélvico , Prolapso de Órgano Pélvico , Ultrasonografía , Humanos , Femenino , Diafragma Pélvico/diagnóstico por imagen , Diafragma Pélvico/lesiones , Diafragma Pélvico/fisiopatología , Adulto , Estudios Longitudinales , Parto Obstétrico/efectos adversos , Parto Obstétrico/métodos , Estudios de Seguimiento , Prolapso de Órgano Pélvico/diagnóstico por imagen , Prolapso de Órgano Pélvico/fisiopatología , Prolapso de Órgano Pélvico/etiología , Ultrasonografía/métodos , Embarazo , Contracción Muscular/fisiología
2.
BMC Neurol ; 21(1): 90, 2021 Feb 26.
Artículo en Inglés | MEDLINE | ID: mdl-33632158

RESUMEN

BACKGROUND: The primary symptoms of restless legs syndrome (RLS) are sleep onset insomnia and difficulty to maintain sleep. Previous studies have shown that regular physical activity can reduce the risk of developing RLS. However, the relationship between physical activity and sleep quality parameters in individuals suffering from RLS has not yet been investigated by applying accelerometry. Thus, the present study investigates the impact of physical activity (measuring both intensity levels and duration of physical activity) during the day (7-12 h, 12-18 h, 18-23 h) on sleep quality in patients suffering from idiopathic RLS by applying a real-time approach. METHODS: In a sample of 47 participants suffering from idiopathic RLS, physical activity and sleep quality were measured over one week using accelerometers. For data analysis, physical activity levels and step counts during three periods of the day (morning, afternoon, evening) were correlated with sleep quality parameters of the subsequent night. RESULTS: This observational study revealed that in most instances physical activity was not correlated with sleep parameters (two exceptions exist: steps taken in the morning were negatively correlated with periodic leg movements during sleep, and physical activity in the evening was negatively correlated with total sleep time). The physical activity levels of the participants in this study, however, were unexpectedly high compared to population-level data and variance in physical activity was low. The average activity was 13,817 (SD = 4086) steps and 347 (SD = 117) minutes of moderate physical activity per day in females, and 10,636 (SD = 3748) steps and 269 (SD = 69) minutes of moderate physical activity in males, respectively. Participants did not engage in any vigorous physical activity. CONCLUSIONS: Further interventional studies are needed to investigate the daily effects of different intensities of physical activity on RLS symptoms.


Asunto(s)
Ejercicio Físico , Síndrome de las Piernas Inquietas , Trastornos del Inicio y del Mantenimiento del Sueño , Acelerometría , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polisomnografía , Síndrome de las Piernas Inquietas/complicaciones , Trastornos del Inicio y del Mantenimiento del Sueño/etiología
6.
Fortschr Neurol Psychiatr ; 84(1): 28-33, 2016 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-26878429

RESUMEN

Physical inactivity is a major but modifiable risk factor for morbidity and mortality. Regular physical activity has preventive and therapeutic effects on numerous diseases including neurological disorders. Therefore, it is desirable that physicians motivate their patients to increase their physical and sports activities and that they help them to overcome barriers to exercising. The present study is a survey of neurologists who are members of the German Neurological Society with their own practices; they were asked whether they advised their patients on the benefits of physical activity. Details on physician counseling on physical activity were obtained, such as the frequency of counseling, the neurological disorders considered by the practitioners to be worth the effort of counseling, and the barriers to exercise on the part of patients. More than 80 % of the participants who responded to the survey stated that they frequently provide their patients with advice on the preventive and therapeutic aspects of physical activity. Almost all of them recommended endurance sports; this was followed by Far Eastern types of sport such as tai chi or yoga (70 % of all physicians who advice sports activities). The frequency of counseling about physical activity significantly correlated to the physician's own sports activity. Frequency of counseling was reduced if the physician assessed the patients to be incapable of adopting and maintaining a lifestyle of habitual physical activity. Lack of time as well as an insufficient reimbursement of the counseling, however, did not significantly influence the frequency of counseling. The physician's own sports activity matched that of individuals with similar social status. Thus, a selection bias does not seem to be of importance regarding the results of the survey. However, since only 169 of the 784 invited neurologists (21.6 %) responded to the questionnaire, the representativeness of the survey may be limited. Counseling about physical activity seems to be an essential part of consultations in neurological practices.


Asunto(s)
Consejo/métodos , Ejercicio Físico , Deportes , Actitud del Personal de Salud , Alemania , Encuestas de Atención de la Salud , Humanos , Enfermedades del Sistema Nervioso/prevención & control , Neurología , Conducta Sedentaria , Sociedades Médicas , Encuestas y Cuestionarios
7.
BJOG ; 123(5): 821-9, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26113145

RESUMEN

OBJECTIVE: To describe changes in pelvic organ support from mid pregnancy until 1 year postpartum among nulliparous pregnant women, and to examine whether delivery route affects changes in pelvic organ support. DESIGN: Prospective cohort study. SETTING: Akershus University Hospital in Norway. POPULATION: A cohort of 300 nulliparous pregnant women included at mid-pregnancy. METHODS: Pelvic organ support assessed at 21 and 37 weeks of gestation, and again at 6 weeks, 6 months, and 12 months postpartum, by the use of the Pelvic Organ Prolapse Quantification (POP-Q) system. Linear mixed model was used to assess longitudinal change in pelvic organ support. MAIN OUTCOME MEASURES: Prevalence of anatomic POP. Change in POP-Q variables over time and between delivery groups. RESULTS: The prevalence of anatomic POP ranged from 0 to 10%. Vaginal POP-Q points made a cranial shift from mid to late pregnancy, a caudal shift following delivery, and again a cranial shift after 6 weeks postpartum. Postpartum change was present following both vaginal and caesarean deliveries, but was more pronounced following vaginal delivery. The perineal body and genital hiatus became longer from mid to late pregnancy, and shortened after 6 weeks postpartum. At 12 months postpartum all POP-Q points, except cervix, had recovered to baseline in the vaginal delivery group. CONCLUSIONS: The prevalence of anatomic POP was low in this cohort. There was change in pelvic organ support both during pregnancy and following vaginal as well as caesarean delivery. The short-term ability to recover was good after the first pregnancy and delivery. TWEETABLE ABSTRACT: Pelvic organ support changes during pregnancy. A contribution to the risk of POP?


Asunto(s)
Diafragma Pélvico/fisiopatología , Prolapso de Órgano Pélvico , Complicaciones del Embarazo , Adulto , Parto Obstétrico/efectos adversos , Parto Obstétrico/métodos , Femenino , Humanos , Modelos Lineales , Estudios Longitudinales , Noruega , Prolapso de Órgano Pélvico/diagnóstico , Prolapso de Órgano Pélvico/epidemiología , Prolapso de Órgano Pélvico/etiología , Embarazo , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/epidemiología , Complicaciones del Embarazo/etiología , Prevalencia , Estudios Prospectivos , Trastornos Puerperales/diagnóstico , Trastornos Puerperales/epidemiología , Trastornos Puerperales/etiología , Factores de Riesgo
8.
Nervenarzt ; 85(12): 1521-8, 2014 Dec.
Artículo en Alemán | MEDLINE | ID: mdl-25380564

RESUMEN

BACKGROUND: Physical activity has beneficial effects on somatic and mental health factors; therefore, regular exercise has preventive and therapeutic capabilities to improve neurological and mental dysfunction. OBJECTIVES: In this overview of the current literature, the evidence of the effects of exercise on such disorders is summarized. Physical exercise interventions for stroke, Parkinson's disease, dementia, depression, psychoses, anxiety disorders, and chronic pain syndromes are considered in detail. RESULTS: Physical activity reduces the risk of suffering from stroke, dementia and Parkinson's disease. Furthermore, it is negatively correlated with dysthymia and other depressive symptoms and various anxiety and pain disorders as well as headache syndromes. A therapeutic effect of systematic physical exercise was revealed for depression, some symptoms of psychosis and multiple sclerosis, addiction, eating disorders, the fibromyalgia syndrome as well as short-term interventions for anxiety disorders. CONCLUSION: The concerted integration of physical exercise into prophylactic and therapeutic interventions can lower the burden of neurological and mental diseases; however, scientific evidence is still lacking concerning the optimal duration, type, and intensity as well as potential risks of physical exercise.


Asunto(s)
Terapia por Ejercicio/métodos , Trastornos Mentales/terapia , Enfermedades del Sistema Nervioso/terapia , Acondicionamiento Físico Humano/métodos , Conducta de Reducción del Riesgo , Medicina Basada en la Evidencia , Humanos , Trastornos Mentales/diagnóstico , Enfermedades del Sistema Nervioso/diagnóstico , Resultado del Tratamiento
9.
J Aging Res ; 2012: 243958, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22811911

RESUMEN

Physical activity reduces many major mortality risk factors including arterial hypertension, diabetes mellitus type 2, dyslipidemia, coronary heart disease, stroke, and cancer. All-cause mortality is decreased by about 30% to 35% in physically active as compared to inactive subjects. The purpose of this paper was to synthesize the literature on life expectancy in relation to physical activity. A systematic PubMed search on life expectancy in physically active and inactive individuals was performed. In addition, articles comparing life expectancy of athletes compared to that of nonathletes were reviewed. Results of 13 studies describing eight different cohorts suggest that regular physical activity is associated with an increase of life expectancy by 0.4 to 6.9 years. Eleven studies included confounding risk factors for mortality and revealed an increase in life expectancy by 0.4 to 4.2 years with regular physical activity. Eleven case control studies on life expectancy in former athletes revealed consistently greater life expectancy in aerobic endurance athletes but inconsistent results for other athletes. None of these studies considered confounding risk factors for mortality. In conclusion, while regular physical activity increases life expectancy, it remains unclear if high-intensity sports activities further increase life expectancy.

10.
Microb Ecol ; 48(2): 178-90, 2004 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-15546038

RESUMEN

The microbial communities associated with electrodes from underwater fuel cells harvesting electricity from five different aquatic sediments were investigated. Three fuel cells were constructed with marine, salt-marsh, or freshwater sediments incubated in the laboratory. Fuel cells were also deployed in the field in salt marsh sediments in New Jersey and estuarine sediments in Oregon, USA. All of the sediments produced comparable amounts of power. Analysis of 16S rRNA gene sequences after 3-7 months of incubation demonstrated that all of the energy-harvesting anodes were highly enriched in microorganisms in the delta-Proteobacteria when compared with control electrodes not connected to a cathode. Geobacteraceae accounted for the majority of delta-Proteobacterial sequences or all of the energy-harvesting anodes, except the one deployed at the Oregon estuarine site. Quantitative PCR analysis of 16S rRNA genes and culturing studies indicated that Geobacteraceae were 100-fold more abundant on the marine-deployed anodes versus controls. Sequences most similar to microorganisms in the family Desulfobulbaceae predominated on the anode deployed in the estuarine sediments, and a significant proportion of the sequences recovered from the freshwater anodes were closely related to the Fe(III)-reducing isolate, Geothrix fermentans. There was also a specific enrichment of microorganisms on energy harvesting cathodes, but the enriched populations varied with the sediment/water source. Thus, future studies designed to help optimize the harvesting of electricity from aquatic sediments or waste organic matter should focus on the electrode interactions of these microorganisms which are most competitive in colonizing anodes and cathodes.


Asunto(s)
Biodiversidad , Fuentes de Energía Bioeléctrica/microbiología , Gammaproteobacteria/genética , Sedimentos Geológicos/microbiología , Filogenia , Secuencia de Bases , Clonación Molecular , Cartilla de ADN , Electrodos/microbiología , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa/métodos , ARN Ribosómico 16S/genética , Mapeo Restrictivo , Análisis de Secuencia de ADN
11.
Ultraschall Med ; 25(5): 337-41, 2004 Sep.
Artículo en Alemán | MEDLINE | ID: mdl-15368136

RESUMEN

Muscular hyperkinesias can be visualized by means of ultrasound (US): Ultrasonographic detection of fasciculations has been best evaluated. However, so-called ripplings, myoclonias and choreatic hyperkinesias as well as tremores can also be visualized by US. Muscular US has proven as a precise imaging technique for the detection of fasciculations. Fasciculations are brief, localized muscle twitches, usually lasting for 0.2 - 0.5 seconds. Some myoklonias may present similar in US, others present with a longer duration. In addition, muscle US allows a very easy and reliable detection of tremor frequency. This article reviews the present ultrasonographic facilities in the detection of muscular hyperkinesias and gives future perspectives.


Asunto(s)
Fasciculación/diagnóstico por imagen , Hipercinesia/diagnóstico por imagen , Humanos , Hipercinesia/clasificación , Músculo Esquelético/diagnóstico por imagen , Ultrasonografía
12.
Clin Exp Med ; 2(4): 166-70, 2003 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-12624706

RESUMEN

Endothelin-1 plays an important role as a paracrine factor in the regulation of regional blood flow. Plasma levels may represent the net result of spill-over from local stimulation/release and elimination of endothelin-1. In order to compare changes in the concentration of endothelin-1 in the plasma of subjects performing different types of sports exercises we measured immunoreactive endothelin-1 in healthy volunteers ( n=20) performing in random order jogging on a treadmill and cycling on a bicycle ergometer, for 30 min each. Plasma immunoreactive endothelin-1 increased significantly after jogging (2.13+/-0.8 pg/ml versus 2.6+/-0.8 pg/ml, before and after exercise, respectively, P<0.03), whereas it decreased after cycling (2.45+/-0.76 pg/ml versus 2.25+/-0.9 pg/ml, before and after exercise, respectively, P<0.03). We suggest that microtraumatizing effects on the endothelial lining are more pronounced during jogging than during cycling, resulting in a greater increase in plasma endothelin-1, which is too high to be immediately eliminated by the lung despite exercise-induced enhanced pulmonary perfusion. In contrast, similarly enhanced lung perfusion together with a relatively lower stimulation of endothelin-1 compared with jogging, may explain the net decrease in plasma after cycling.


Asunto(s)
Ciclismo , Endotelina-1/sangre , Trote , Adulto , Humanos , Masculino , Persona de Mediana Edad , Flujo Sanguíneo Regional/fisiología
13.
Orthopade ; 31(2): 165-71, 2002 Feb.
Artículo en Alemán | MEDLINE | ID: mdl-11963482

RESUMEN

Imaging modalities are the only noninvasive methods that provide morphological information on skeletal muscles. In neuromuscular diseases, electrodiagnostic investigations are routinely employed in the diagnostic process, although they only deliver functional information. Thus, imaging and electro-diagnostic methods are not in competition, but complement each other. Each method has its specific indications. The technique and diagnostic value of muscle ultrasound in neuromuscular diseases are presented in this review.


Asunto(s)
Músculos/diagnóstico por imagen , Enfermedades Neuromusculares/diagnóstico por imagen , Adulto , Esclerosis Amiotrófica Lateral/diagnóstico por imagen , Biopsia , Diagnóstico Diferencial , Electromiografía , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Músculos/patología , Atrofia Muscular/diagnóstico por imagen , Mioclonía/diagnóstico por imagen , Enfermedades Neuromusculares/diagnóstico , Enfermedades Neuromusculares/patología , Tomografía Computarizada por Rayos X , Ultrasonografía
14.
Arch Orthop Trauma Surg ; 121(6): 307-12, 2001 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-11482460

RESUMEN

In trans-tibial amputees, PTB (patellar tendon bearing) prostheses provide almost physiological mobility of the knee joint in the sagittal plane. Nevertheless, there are characteristic adaptations of the knee joint muscles. Myosonography is a suitable method for depicting muscle atrophy and hypertrophy due to muscle dysfunction. The present study was intended to assess anatomical alterations of thigh muscles in trans-tibial amputees wearing a PTB prothesis. Thicknesses and cross-sectional areas of the quadriceps femoris, sartorius, gracilis, semitendinosus and biceps femoris muscles were determined ultrasonographically on both limbs in 17 amputees with a PTB prothesis. The gait was analysed using an optoelectronical system, force plates and surface electromyography of the vastus lateralis and biceps femoris muscles. Quadriceps femoris and sartorius muscles of the amputated extremity exhibited significant atrophy compared with the contralateral limb (reduction of muscle thickness ranged between 11.7% and 30.4%), whereas the gracilis and hamstring muscles were not significantly affected. Even the quadriceps femoris muscle of the non-amputated limb showed a slight atrophy compared with a reference group. Increased echointensities were found predominantly in the quadriceps muscle on the amputated leg. During gait, electromyographical activity within the amputated limb was reduced in the vastus lateralis and increased in the biceps femoris muscle. Even long-term adaptation to PTB prostheses results in characteristic deviation from normal gait. Atrophy occurs in the ventral thigh muscles, predominantly on the amputated leg, whereas the dorsal thigh muscles are hardly affected, probably due to compensatory hyperactivity.


Asunto(s)
Amputados , Atrofia Muscular/diagnóstico por imagen , Adolescente , Adulto , Anciano , Electromiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Ultrasonografía
15.
Environ Sci Technol ; 35(1): 192-5, 2001 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-11352010

RESUMEN

Pairs of platinum mesh or graphite fiber-based electrodes, one embedded in marine sediment (anode), the other in proximal seawater (cathode), have been used to harvest low-level power from natural, microbe established, voltage gradients at marine sediment-seawater interfaces in laboratory aquaria. The sustained power harvested thus far has been on the order of 0.01 W/m2 of electrode geometric area but is dependent on electrode design, sediment composition, and temperature. It is proposed that the sediment/anode-seawater/cathode configuration constitutes a microbial fuel cell in which power results from the net oxidation of sediment organic matter by dissolved seawater oxygen. Considering typical sediment organic carbon contents, typical fluxes of additional reduced carbon by sedimentation to sea floors < 1,000 m deep, and the proven viability of dissolved seawater oxygen as an oxidant for power generation by seawater batteries, it is calculated that optimized power supplies based on the phenomenon demonstrated here could power oceanographic instruments deployed for routine long-term monitoring operations in the coastal ocean.


Asunto(s)
Suministros de Energía Eléctrica , Sedimentos Geológicos , Agua de Mar , Electrodos , Sedimentos Geológicos/química , Oceanografía , Agua de Mar/química
18.
Med Sci Sports Exerc ; 32(11): 1942-8, 2000 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-11079526

RESUMEN

PURPOSE: Besides peripheral mechanisms, central fatigue is an important factor limiting the performance of exhausting exercise in sport. The mechanisms responsible are still in discussion. Using noninvasive transcranial magnetic stimulation (TMS) in a double-pulse technique, we sought to assess fatigue of the motor cortex after exhaustive anaerobic strain. METHODS: 23 male subjects (22-52 yr) taking part in the study were requested to accomplish as many pull-ups as possible until exhaustion. The amount of physical lifting work was recorded. Before and immediately after the task, intracortical inhibition (ICI) and facilitation (ICF) were measured by a conditioned-test double-pulse TMS method for the right brachioradialis (BR) and abductor pollicis brevis muscle (APB). RESULTS: After exercise, ICF was significantly reduced in the BR but not in the APB. ICI was not altered. Changes tended to normalize within 8 min after the task. The amount of lifting work accomplished showed significant correlation to the values of ICF reduction (r = 0.73). Moreover, the baseline values of ICF before exercise were also significantly correlated to the lifting work (r = 0.63). CONCLUSIONS: Because double-pulse TMS gives access to the motor cortex independently of spinal or peripheral mechanisms, reduced ICF reflects decreased excitability of interneuronal circuits within the motor cortex. We suggest that ICF measures motor cortex fatigue after exhausting strain specifically for the muscles performing the task. Gamma-aminobutyric acid (GABA)-ergic neurotransmission is possibly involved in the mechanisms mediating central fatigue. Double-pulse TMS may be a useful tool in the control of training in sports as well as in the detection of pathological central fatigue in overreaching and in the prevention of overtraining.


Asunto(s)
Magnetismo , Corteza Motora/fisiología , Esfuerzo Físico/fisiología , Adulto , Umbral Anaerobio , Humanos , Elevación , Masculino , Persona de Mediana Edad , Transmisión Sináptica/fisiología , Ácido gamma-Aminobutírico/fisiología
19.
Mov Disord ; 15(5): 1000-5, 2000 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-11009213

RESUMEN

Hemiballism-hemichorea in older patients with hyperglycemia, associated with high signal intensity in the contralateral striatum on T1-weighted magnetic resonance scans, is now an accepted clinical entity. We present an additional patient with this disorder. Using transcranial magnetic stimulation, we show that intracortical inhibition in the motor cortex contralateral to hemiballism-hemichorea is increased. This finding is discussed in the context of current models of basal ganglia-thalamo-cortical connectivity.


Asunto(s)
Complicaciones de la Diabetes , Diabetes Mellitus/fisiopatología , Discinesias/fisiopatología , Estimulación Eléctrica/métodos , Potenciales Evocados Motores , Magnetismo , Corteza Motora/fisiopatología , Anciano , Corea/fisiopatología , Dominancia Cerebral , Discinesias/etiología , Electromiografía , Femenino , Humanos , Hiperglucemia/fisiopatología , Modelos Neurológicos , Inhibición Neural
20.
Neurology ; 55(3): 383-8, 2000 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-10932272

RESUMEN

OBJECTIVE: To investigate anticipation in proximal myotonic myopathy (PROMM). BACKGROUND: PROMM is a recently described autosomal dominantly inherited disorder similar to but distinct from myotonic dystrophy (DM). DM belongs to the group of inherited disorders with anticipation caused by an unstable trinucleotide repeat expansion. In PROMM, no mutation has been identified, although PROMM has recently been mapped to a gene locus on chromosome 3q. METHODS: We investigated 10 German families with the PROMM phenotype and linkage to chromosome 3q. We based our analysis of anticipation on the age of disease onset. Anticipation was assumed if the offspring had first symptoms earlier in life than his or her affected parent. For statistical analysis Independence Estimating Equations (IEE) and a Monte-Carlo bootstrap were used. RESULTS: In 27 affected living parent-offspring pairs from these 10 families, the mean difference of disease onset was 18.8 years with either statistical analysis (p < 10-14 and p < 10-15). The mean disease onset interval in years was greater in father-offspring as compared to the mother-offspring pairs (p < 0.05; IEE). CONCLUSION: Our findings suggest the occurrence of anticipation in parent-offspring pairs from families with the PROMM phenotype and linkage to chromosome 3q. The different disease onset intervals in mother-offspring and father-offspring pairs could indicate a mild parent-of-origin effect. These observations are compatible with the suggestion that PROMM, like DM, may be a trinucleotide repeat associated disorder. In contrast to DM, anticipation in PROMM is milder, a congenital form does not seem to occur, and fertility does not appear to be affected.


Asunto(s)
Cromosomas Humanos Par 3 , Ligamiento Genético , Trastornos Miotónicos/genética , Adolescente , Adulto , Edad de Inicio , Salud de la Familia , Femenino , Pruebas Genéticas , Alemania/epidemiología , Haplotipos , Humanos , Masculino , Método de Montecarlo , Trastornos Miotónicos/diagnóstico , Trastornos Miotónicos/epidemiología , Linaje , Fenotipo , Valor Predictivo de las Pruebas , Pronóstico , Factores de Riesgo
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