Bilateral Lower Sternocleidomastoid Botulinum Toxin Injections to Address Refractory Anterocollis.

Anterocollis is a type of cervical dystonia characterized by simultaneous and repetitive antagonist muscles contractions, resulting in abnormal neck flexion. It was described with a frequency of 6.8% from 399 patients with diagnosis of cervical dystonia and usually coexists with torticollis and/or laterocollis, as mixed cervical dystonia patterns. Botulinum toxin is usually a practical and effective treatment for cervical dystonia. The target muscles to inject in anterocollis are usually sternocleidomastoid and scalene muscles. There is also a case report suggesting longus collis involvement. Nevertheless, the dosage of the medication in anterocollis is limited by frequent side effects of dysphagia. We described 2 cases of refractory anterocollis. They did not benefit from conventional bilateral upper portion of sternocleidomastoid muscle injections with OnabotulinumtoxinA, but notably improved their symptoms and clinical global impression after switching to injections into bilateral lower portion of sternocleidomastoid muscles, without significant side effects.

Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease.

Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause a variety of chronic diseases in central nervous system (CNS). However, the role of mtDNA mutations in sporadic Creutzfeldt-Jakob disease (sCJD) has still been unknown. In this study, we comparatively analyzed complete mtDNA sequences of 31 Chinese sCJD patients and 32 controls. Using MITOMASTER and PhyloTree, we characterized 520 variants in sCJD patients and 507 variants in control by haplogroup and allele frequencies. We classified the mtDNAs into 40 sub-haplogroups of 5 haplogroups, most of them being Asian-specific haplogroups. Haplogroup U, an European-specific haplogroups mtDNA, was found only in sCJD. The analysis to control region (CR) revealed a 31% increase in the frequency of mtDNA CR mutations in sCJD versus controls. In functional elements of the mtDNA CR, six CR mutations were in conserved sequence blocks I (CSBI) in sCJD, while only one in control (P<0.05). More mutants in transfer ribonucleic acid-Leu (tRNA-Leu) were detected in sCJD. The frequencies of two synonymous amino-acid changes, m.11467A>G, p.(=) in NADH dehydrogenase subunit 4 (ND4) and m.12372G>A, p.(=) in NADH dehydrogenase subunit 5 (ND5), in sCJD patients were higher than that of controls. Our study, for the first time, screened the variations of mtDNA of Chinese sCJD patients and identified some potential disease-related mutations for further investigations.

Unilateral thalamic deep brain stimulation in essential tremor demonstrates long-term ipsilateral effects.

INTRODUCTION: Deep Brain Stimulation (DBS) of thalamus in essential tremor (ET) is effective for the treatment of contralateral tremors. Bilateral DBS controls tremors on both sides but is associated with increased morbidity and risks. We evaluated if unilateral surgery had ipsilateral benefits on tremors and thus could be a potentially safer alternative to bilateral DBS. METHODS: Medication refractory ET patients undergoing unilateral thalamic DBS were included and longitudinally followed. Tremor rating scale was used to record total motor, arm tremor and activities of daily living (ADL) scores at baseline, six months and at last visit (three or more years after surgery). Postoperative scores were recorded with DBS turned OFF and ON. RESULTS: Twenty-two patients with a mean follow-up 3.4 ± 0.14 years were enrolled. When baseline scores were compared to scores with the DBS turned ON, significant improvements were noted in total tremor (40%), ADL (67%) and arm tremor scores both on the ipsilateral and the contralateral side at six months and at the last visit of follow-up (all p < 0.05). Ipsilateral arm tremor (∼56%) improvements were milder compared to the contralateral side (∼73%) tremors. CONCLUSION: Unilateral thalamic DBS in ET demonstrates significant long-term benefits for ipsilateral arm tremors and can be offered to higher risk and to select patients.

Pielotac como alternativa en el diagnóstico de la urolitiasis: experiencia en el hospital clínico UC / UHCT as an alternative in the diagnosis of urolithiasis: experience in UC clinical hospital

La utilización de la Tomografía Helicoidal Sin Contraste (PIELOTAC) para el diagnóstico de la urolitiasis es hoy en día una alternativa vigente y que aparece llevar a terapias más oportunas y efectivas. El objetivo de este trabajo es evaluar la experiencia de nuestra institución desde la incorporación rutinaria del Piolotac para diagnóstico de la urolitiasis, comparando con cifras históricas locales en las que el manejo diagnóstico se realizó con Pielografía IV como primer examen. Revisión retrospectiva de las fichas de urgencia entre enero a mayo del 2001, extrayendo aquellos pacientes que consultaron por litiasis urinaria. De estas se obtuvieron valores relacionados con edad, sexo, antecedentes clínicos, historia clínica actual, uso del Pielotac en su intento diagnóstico, número, tamaño ubicación de la litiasis y grado de repercusión en el sistema urinario, tiempo transcurrido al tratamiento sea médico y/o quirúrgico, así como también, la efectividad de éste. En un total de 111 pacientes que consultaron al servicio de urgencia, en su mayoría del sexo masculino (55 por ciento9, se logró obtener la confirmación de la urolitiasis a través del Pielotac. En su mayoría resultaron ser hombres con litiasis de ubicación uretral distal con escaso compromiso de dilatación del sistema urinario y que en un 93 por ciento fueron resueltas dentro de las 24 hrs. posterior al ingreso del paciente, con muy buena respuesta. En un 1,5 por ciento se requirió un nuevo intento de litotripsia. En un 12,6 por ciento de los pacientes se pudo diagnosticar otras entidades como diagnóstico diferencial, de ellas 1 pacientes se les diagnóstico enfermedad diverticular complicada, en 2 apendicitis aguda, un tumor renal, 4 tumores ováricos (teratomas quísticos) y 6 pielonefritis agudas. La Pielotac es hoy un examen que guarda cualidades técnicas que lo hacen ser de gran ayuda en la urolitiasis y a veces como diagnóstico diferencial de otras patologías que debieron ser resueltas quirúrgicamente. Sin embargo, sigue siendo de alto costo y no accesible en todo recinto hospitalario.