Resultados de investigación

3D islet of the Chirikov map

A 45-year-old woman developed an intermittent gait disorder and agoraphobia that was initially diagnosed as a functional movement disorder (FMD). On examination, fluctuating stiffness of the left leg with a hung-up reflex was observed (Video 1). Neuroimaging and laboratory tests were normal, including thyroid function. Electromyography showed continuous motor unit activity in the muscles of the left leg. Elevated levels of GAD65 antibodies were detected in serum (>2,000 U/mL) and cerebrospinal fluid (21.09 U/mL), findings consistent with stiff limb syndrome, a rare variant of stiff-person syndrome (SPS). The patient’s symptoms improved with diazepam treatment. The hung-up reflex has classically been described in hypothyroidism and Huntington disease, and this case suggests that it may also occur in SPS. This clinical sign should therefore be considered when evaluating patients initially suspected of having FMD., Si

Los bloqueos anestésicos constituyen un recurso terapéutico en numerosos pacientes con cefalea, ya sea como tratamiento aislado o combinado con otras estrategias, aunque existe una notable heterogeneidad en los patrones de uso entre profesionales; con el objetivo de conocer los principales aspectos técnicos y formales relacionados con este procedimiento y compararlos con los resultados de una encuesta similar realizada en 2012, el Grupo de Estudio de Cefaleas de la Sociedad Española de Neurología (GECSEN) diseñó una encuesta transversal autoadministrada que fue enviada en febrero de 2016, a través de la plataforma del área científica de la SEN, a todos los miembros del grupo. Participaron 39 neurólogos (edad media: 41,74 años; DE: 9,73), 23 varones (43,7 años; DE: 9,92) y 16 mujeres (38,94 años; DE: 9,01); el 76,9% integraba los bloqueos anestésicos en su práctica clínica, porcentaje que ascendía al 79,16% en hospitales de tercer nivel. Las principales indicaciones fueron el diagnóstico y tratamiento de neuralgias (100%), la prevención de migraña crónica (61,7%) y la cefalea en racimos tanto episódica (51,3%) como crónica (66,7%); el 31% realizaba bloqueo exclusivo del complejo occipital, el 13% añadía infiltración del nervio supraorbitario y otro 13% también del nervio auriculotemporal. En conclusión, las indicaciones y los territorios infiltrados fueron similares a los observados en 2012; no obstante, se evidenció una participación más activa y un mayor porcentaje de neurólogos jóvenes (35,89% con 35 años o menos), lo que sugiere una progresiva generalización de esta técnica en la práctica asistencial., Si

An 81-year-old male with personal history of hypertension, hypothyroidism, heart failure, and total laryngectomy presented with coffee ground emesis and diffuse abdominal pain. He had tachycardia (140 bpm) and hypotension (blood pressure of 82/46 mmHg). Physical exam revealed diffuse abdominal tenderness with guarding and cold and clammy skin. The results of laboratory studies included a white-cell count of 19,100 per cubic millimeter; the serum creatinine level was 5.4 mg per deciliter and lactic acid level of 21.1 mmol per liter., Si

Since the description of transanal endoscopic microsurgery (TEM) by Buess and the later appraisal of transanal endoscopic operation(TEO) and tranasnal minimally invasive surgery (TAMIS), these approaches have been used for the treatment of rectal neoplasms such as benign or early stage rectal cancer. Moreover, the transanal approach continues to evolve, and new indications are emerging, such as the removal of foreign bodies and repair of rectourethral fistula. In this video, we present our experience with the TAMIS approach for the treatment of a rectal stenosis non-suitable for endoscopic dilatation., Si

Primary breast lymphoma is a rare neoplasm; it corresponds to 0.4–0.5% of breast tumors1 and is defined as the absence of concurrent widespread lymphoma, having no previous diagnosis of extramammary lymphoma. It is an infrequent tumor, as lymphoid tissue is absent in the mammary region.2 It is especially prevalent in females (95–100%), representing little more than a mere anecdote in males.3 The PET/CT can be useful in the initial staging, treatment response evaluation, and restaging of patients with primary breast lymphoma., Si

Transanal minimally invasive surgery (TAMIS) has been used for the treatment of rectal neoplasms such as benign polyps and early rectal cancer. After early experience, other applications have appeared and the use of TAMIS approaches has expanded. Transanal endoscopic microsurgery (TEM) and transanal endoscopic operation (TEO) resection for lesions above the rectosigmoid junction have been described, but TAMIS resection of these lesions is usually not considered feasible, Si

An 85-year-old woman presented with a 3-day history of abdominal fullness, nausea, and vomiting, with no personal history of abdominal surgery; physical examination revealed a distended abdomen with increased bowel sounds and diffuse abdominal pain, and laboratory studies showed a white cell count of 16,200/mm³, a serum creatinine level of 1.6 mg/dL, a sodium level of 121 mmol/L, and a lactic acid level of 6.1 mmol/L., Si

A man in his 70s with a history of hypertension and dyslipidaemia who had been diagnosed with a posterior myocardial infarction was taken directly to the catheterisation laboratory for primary angioplasty (with the prehospital ECG shown in figure 1); upon arrival, he was sweating, lethargic, and had a blood pressure of 60/45 mm Hg., No

Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single-arm phase 2 study of venglustat and a placebo-controlled phase 3 study of agalsidase beta through historical control and case-matched analyses. Methods Eleven venglustat-treated male patients with classic FD in the phase 2 study were matched with placebo- or agalsidase beta–treated patients from the phase 3 study based on propensity scores at baseline. Changes from baseline in plasma globotriaosylceramide (GL-3 or Gb3) concentrations were analyzed at approximately 6–36 months. Results Venglustat treatment resulted in greater significant reductions in plasma GL-3 concentrations at 6 months from baseline vs. placebo (mean difference −2.56 μg/mL, p < 0.001), and at 24 and 36 months from baseline vs. agalsidase beta (mean difference −1.8 μg/mL, p < 0.05 and −2.35 μg/mL, p < 0.01, respectively). GL-3 concentrations continued to decline with venglustat for up to 3 years without plateauing. Conclusions Venglustat showed significantly greater reductions in plasma GL-3 concentrations than placebo after 6 months and agalsidase beta after 24 and 36 months. These findings support the potential of long-term venglustat treatment to reduce GL-3 accumulation in patients with classic FD. Further studies are needed to confirm clinical benefit, The studies were funded by Sanofi