Examining the Features of Neuroleptic Malignant Syndrome in Anti-NMDA Receptor Encephalitis: A Case-Control Study.

BACKGROUND: Anti-N-methyl-D-aspartate receptor encephalitis (ANMDARE) is a neuroimmunological disorder that frequently improves with immunotherapy. Symptomatic treatment with antipsychotics is common in the early stages when psychiatric symptoms predominate, and their use has been associated with serious side effects including neuroleptic malignant syndrome (NMS). The observation of an adverse response to antipsychotics, raising the suspicion of NMS, has been included as a criterion for possible autoimmune psychosis. METHODS: This case-control study included patients who received antipsychotics before referral to the National Institute of Neurology and Neurosurgery of Mexico, where they were diagnosed as having definite ANMDARE, and patients with ANMDARE who did not receive antipsychotics before referral. The neurologic and systemic features that are used to measure an adverse response to antipsychotics, raising the suspicion of NMS, were measured in both groups, including akinesia, autonomic instability, generalized rigidity, elevated concentrations of creatine phosphokinase, and hyperthermia. A logistic regression analysis was used to determine the relationship between the previous use of antipsychotics and the occurrence of NMS-like reactions. RESULTS: A total sample of 112 patients with definite ANMDARE were included in the study. Fifty patients received antipsychotics before being referred to our institution. In this group, thirty-six patients (72%) were initially classified as having an adverse response, raising the suspicion of NMS, with the following features: akinesia (64%), autonomic instability (58%), generalized rigidity (52%), elevated concentrations of creatine phosphokinase (50%), and hyperthermia (14%). Six patients fulfilled the criteria for NMS (12%). The comparison with patients who did not receive antipsychotics before the clinical assessment did not show a significant difference between groups regarding the frequency of akinesia, autonomic instability, generalized rigidity, elevated concentrations of creatine phosphokinase, or hyperthermia. Among different antipsychotics, only haloperidol was significantly associated with generalized rigidity as compared to patients who did not receive antipsychotics. CONCLUSIONS: Our study supports previous observations about the high frequency of autonomic dysfunction, hyperthermia, tachycardia, rigidity, and elevated creatine phosphokinase levels in patients with anti-NMDAR encephalitis following the administration of antipsychotic medications. Nevertheless, our study does not suggest a causal link between atypical antipsychotics and the onset of these neurological symptoms, as they were equally frequent among the group of patients who did not receive antipsychotic treatment.

[Neuropsychiatric aspects of anti-NMDA receptor encephalitis]. / Aspectos neuropsiquiátricos de la encefalitis por anticuerpos contra el receptor NMDA.

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a potentially lethal clinical entity that belongs to the group of antibody-mediated encephalitis against synaptic proteins. It shows IgG antibodies against the NR1 subunit of the NMDA receptor (NMDA-R), which have been associated with psychiatric and neurological symptoms that develop in stages in the course of the disease. The predominance of neuropsychiatric symptoms in the early stages of the disease results in an increased number of patients that search for psychiatric evaluation as their first contact with the health system. For this reason, it is vital for physicians to recognize this entity as an important differential diagnosis in their clinical practice because, despite the severity of this condition, more than 75 % of patients achieve a substantial recovery with appropriate and timely treatment. We present a review of the literature on this disease, with special emphasis on the neuropsychiatric aspects.

La encefalitis por anticuerpos contra el receptor anti-N-metil-D-aspartato (NMDA) es una entidad clínica potencialmente letal perteneciente al grupo de las encefalitis mediadas por anticuerpos contra proteínas sinápticas. En esta se demuestran anticuerpos IgG contra el receptor de NMDA (NMDAr), asociados con síntomas psiquiátricos y neurológicos que se desarrollan por estadios en el curso de la enfermedad. El predominio de síntomas neuropsiquiátricos en las etapas tempranas provoca que un elevado porcentaje de pacientes busquen evaluación psiquiátrica como un primer contacto con el sistema de salud. Por esta razón, es vital que los médicos reconozcan esta entidad como un diagnóstico diferencial importante en la práctica clínica, puesto que, a pesar de la gravedad de esta condición, más de 75 % de los pacientes logra una recuperación sustancial con un tratamiento adecuado y oportuno. Presentamos una revisión de la literatura sobre esta enfermedad, con especial énfasis en los aspectos neuropsiquiátricos.

Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report.

Late-onset limb-girdle myopathies pose a diagnostic challenge. The most common etiologies are inflammatory, followed by genetic and metabolic. Rare cases include limb-girdle dystrophies and permanent myopathies (vacuolar), such as those associated with hypokalemic periodic paralysis (HypoPP). We present the case of a 59-year-old male who initiated with episodic acute severe weakness when he was 11, during which serum potassium levels of <2.5 meq/L were revealed during workup. Potassium reposition reversed these episodes. They occurred every three to five years, and the last episode was five years prior to the current illness. When he was 58, he presented progressive pelvic girdle weakness. On examination, he presented decreased strength in the iliopsoas and quadriceps. The laboratory results showed mildly elevated creatine kinase. Muscle biopsy revealed a vacuolar myopathy, and genetic testing identified a pathogenic variant in the CACNA1S gene, locus 1q32.1 [c.3716G> A (p.Arg1239His), heterozygous state].

Intravenous cyclophosphamide monthly pulses in refractory myasthenia gravis.

INTRODUCTION: Refractory myasthenia gravis (MG) is defined as a failure to respond adequately to conventional therapies, the inability to reduce immunosuppressive therapy without clinical relapse or the need for ongoing rescue therapy, severe adverse effects from immunosuppressive therapy (treatment intolerant) or frequent myasthenic crisis even on therapy. Cyclophosphamide (CYC) is a DNA alkylating agent that causes important interference in transcription processes and DNA replication, it has been used in refractory MG with controversial results. We aim to determine the efficacy of CYC in refractory MG in the Mexican population. METHODS: In an observational, longitudinal retrospective study, we identified eight refractory MG patients treated with 30-50 mg/kg monthly CYC for at least 6 months. The efficacy was assessed by Osserman scale considering significant improvement a ≥ 1 point reduction and Myasthenia Gravis Composite Scale. The relapse-free and remission-free period were also calculated using the Kaplan-Meier statistic. RESULTS: Clinical improvement was achieved in 75% of the patients. According to the Kaplan-Meier analysis, the median progression-free survival (PFS) was 9 (6.2-11.5) months and the median time to progression (TTP) was 4 (1-8) months. Response was independent of patient's characteristics, except for the MG age of onset (p = 0.0025). CONCLUSIONS: CYC was effective in all patients with refractory MG for a mean of 9 months, with worsening thereafter, which could be associated with low cumulative dose. The symptomatic improvement with CYC was noted within the 1st month. We conclude that CYC is effective as an induction to remission therapy, although our data suggest it is not effective as a long-term therapy.

[Prevalence of vitamin D insufficiency and deficiency in Mexican adults with allergic asthma]. / Prevalencia de insuficiencia y deficiencia de vitamina D en adultos mexicanos con asma alérgica.

BACKGROUND: Hypovitaminosis D has been associated with various chronic diseases such as infections, autoimmune diseases, chronic obstructive pulmonary disease, cancer and asthma Objective: The objective at hand is to determine the prevalence of vitamin D (VD) insufficiency and deficiency in adults with allergic asthma. OBJECTIVE: Objective: The objective at hand is to determine the prevalence of vitamin D (VD) insufficiency and deficiency in adults with allergic asthma. METHODS: Through a cross-sectional study, we analyzed corresponding data amongst 135 patients. VD concentration was categorized as sufficient (≥ 30 ng/mL), insufficient (21-29 ng/mL), and deficient (≤ 20 ng/mL). The level of VD deficiency was measured through chemo-luminescence. We estimated the prevalence of VD alterations and their respective confidence intervals at 95 % (CI 95 %). RESULTS: Within the analyzed population, there were 99/135 women (73.3 %); the mean age was 34.5 ± 10.3 years. The mean concentration of VD was 17.9 ± 6.9 ng/mL and the median was 17 ng/mL. The prevalence of VD insufficiency and deficiency was 25.2 % (CI 95 %, 18.6-33.2 %) and 71.1 % (CI 95 %, 62.9-78.1 %), respectively; VD concentrations ≤ 10 ng/mL had 13.3 % (CI 95 %, 8.5-20.2 %) and ≥ 30 ng/mL at 3.7 % (CI 95 %: 1.4-8.6 %). When we contrasted the men to the women, the median concentration of VD did not differ significantly (16 ng/mL vs. 18 ng/mL, p = 0.71). CONCLUSION: In this study, patients with allergic asthma had distinctively reduced VD concentration levels; future research will determine if and how VD affects the severity of asthma.

Antecedentes: La hipovitaminosis D ha sido asociada con diversas enfermedades crónicas como infecciones, enfermedades autoinmunes, enfermedad pulmonar obstructiva crónica, cáncer y asma. Objetivo: Determinar la prevalencia de insuficiencia y deficiencia de vitamina (VD) en adultos con asma alérgica. Métodos: Estudio transversal en el que se analizaron los datos de 135 pacientes. La concentración de VD fue categorizada en suficiente (≥ 30 ng/mL), insuficiente (21-29 ng/mL) y deficiente (≤ 20 ng/mL). La concentración de VD se midió por quimioluminiscencia. Se estimaron las prevalencias de las alteraciones de la VD y sus respectivos intervalos de confianza a 95 % (IC 95 %). Resultados: En la población analizada, 99 fueron mujeres (73.3 %), con edad media de 34.5 ± 10.3 años. La concentración media de VD fue 17.9 ± 6.9 ng/mL (mediana de 17 ng/mL). La prevalencia de insuficiencia y deficiencia de VD fue de 25.2 % (IC 95 %, 18.6-33.2 %) y 71.1 % (IC 95 %, 62.9-78.1 %), respectivamente; las concentraciones de VD ≤ 10 ng/mL representaron 13.3 % (IC 95 %, 8.5-20.2 %) y ≥ 30 ng/mL, 3.7 % (IC 95 %, 1.4-8.6 %). Al contrastar hombres y mujeres, la concentración mediana de VD no difirió significativamente (16 ng/mL versus 18 ng/mL, p = 0.71). Conclusiones: En este estudio, los pacientes con asma alérgica tuvieron concentraciones de VD notoriamente disminuidas. Con futuras investigaciones se podrá evaluar el papel de la VD en la gravedad del asma.

Sutura primaria e ileostomía transcecal en urgencias quirúrgicas del colon izquierdo / Primary suture and transcecal ileostomy in surgical emergencies of left colon

Introducción: existe una controversia sobre la alternativa quirúrgica para la solución de las urgencias quirúrgicas en el colon izquierdo. Objetivo: comparar la sutura primaria e ileostomía transcecal con una sonda de colostomía convencional en los pacientes operados del colon izquierdo. Métodos: se realizó un estudio analítico, observacional, prospectivo y longitudinal. Universo: se diagnosticaron 70 pacientes con enfermedades quirúrgicas urgentes del colon izquierdo. Muestra: 34 pacientes del Hospital General Docente Abel Santamaría Cuadrado y Hospital Clínico Quirúrgico León Cuervo Rubio, operados entre enero de 2006 y 2010. Se formaron aleatoriamente dos grupos: grupo A (muestra), 34 pacientes con sutura o resección intestinal y anastomosis primaria e ileostomía transcecal con sonda; grupo B (control) 36 pacientes con resección intestinal y colostomía convencional. Se aplicó la prueba Ji cuadrado con un nivel de significación de 0,05 y porcientos. Resultado: predominaron las perforaciones sigmoideas traumáticas 37,1% y el vólvulo del sigmoide con un compromiso vascular 31,4% en ambos grupos, prevalencia en el género masculino y la edad de 51-60 años. En el grupo A el 11,7% de los pacientes presentaron complicaciones no relacionadas con dehiscencia de la anastomosis; en el grupo B alcanzaron el 55,5% predominando la infección de la herida y las generales. La mortalidad global de la sutura primaria con ileostomía transcecal fue de 2,9% y 11,1% en la colostomía convencional. La sonda de ileostomía se retiró como promedio a los 7 días, y la calidad de vida de estos pacientes es satisfactoria en la actualidad. Conclusiones: La sutura primaria e ileostomía transcecal tiene menos complicaciones y mortalidad, minimiza la injuria psicológica, y es la alternativa quirúrgica más fisiológica.

Introduction: a controversy about surgical alternative to the solution of surgical emergencies of left colon gives rise. Objective: to compare primary suture and transcecal ileostomy with a conventional colostomy probe in patients operated on left colon. Methods: an analytical, observational, prospective and longitudinal study. Target group: 70 patients having the diagnosis of surgical emergencies due to left colon conditions. Sample: 34 patients who underwent left colon surgeries from January 2006 and 2010 at "Abel Santamaria Cuadrado" and "Leon Cuervo Rubio" Provincial General University Hospitals. Two groups chosen at random were included: group-A (sample), 34 patients with suture or intestinal resection plus primary anastomosis and transcecal ileostomy with probe; group-B (control) 36 patients with intestinal resection and conventional colostomy. Chi square test with a significance level of 0,05 and percentages were applied. Results: traumatic sigmoid perforations prevailed (37,1%) and sigmoid volvulus with vascular compromise (31,4%) in both groups, male sex and ages from 51 to 60 predominated. In group-A the 11,7% of patients presented complications that were not related to dehiscence of anastomosis; in group-B the complications reached 55,5% prevailing the infection of surgical wound and the general ones. Global mortality of the primary suture with transcecal ileostomy was 2,9% and 11,1% with conventional colostomy. The probe of the ileostomy was removed at 7 days on average; currently the quality of life of these patients is satisfactory. Conclusion: primary suture and transcecal ileostomy present much less complications as well as mortality, it minimizes psychological damage, and this is the most physiologic surgical alternative.

Vólvulo de ciego con compromiso vascular. Presentación de un caso / Volvulus of cecum with vascular compromise. A case report

El vólvulo del ciego es una condición clínica infrecuente y representa solamente el 1% de los casos de oclusión intestinal en el adulto. Los pacientes con esta entidad usualmente presentan un cuadro clínico de dolor abdominal intermitente, vómitos y no expulsión de heces por el recto. Se muestra el caso clínico de una paciente intervenida quirúrgicamente por un síndrome oclusivo, donde se comprobó un vólvulo del ciego con compromiso vascular. El objetivo de esta revisión es describir las características clínicas de la enfermedad, discutir las causas, así como las estrategias de tratamiento ante esta difícil situación.

The volvulus of cecum is a clinical rare condition and represents only 1% of the cases of intestinal occlusion in adults. Usually, patients suffering from this condition, present a clinical chart of intermittent abdominal pain, vomits and non-excretion of feces from the rectum. The clinical case of a patient who underwent a surgery due to an occlusive syndrome is presented, where a volvulus of cecum with vascular compromise was identified. This medical literature review was aimed at describing the clinical characteristics of this condition analyzing causes and treatment strategies regarding this complex situation as well.