A high prevalence of depression and anxiety, and a higher rate of suicidal ideation were identified in MS patients compared to the general population. The presence of depressive symptoms appeared to have a direct influence on the risk of suicide.

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Narcolepsy type 1 is a sleep disorder characterized by excessive daytime sleepiness (EDS), sleep fragmentation, hypnagogic hallucinations, sleep paralysis, and cataplexy. Stimulant medications such as modafinil and amphetamines are the first-line medications for treating sleepiness. However, the management of narcolepsy during special circumstances of life such as pregnancy is complex. MMDM is a 34-year-old female with Narcolepsy type 1 treated with modafinil (400mg/d) and citalopram (20mg/d). Before she become pregnant, modafinil and citalopram were replaced for L-Carnitine 510mg/d with good outcome. She underwent an usual pregnancy and was submitted to a term cesarean delivery without child-birth complications. This is the first description of oral L-Carnitine such an alternative to treatment narcolepsy type 1 during pregnancy. Treat these patients is not easy but care narcolepsy pregnant is a challenging even bigger. In a disease without many treatment options, L-Carnitine can be used to treat daytime sleepiness during pregnancy in narcolepsy.

This study revealed the practical usefulness of TCS in differentiating PD from its prevalent mimics when the clinical diagnosis was initially unclear.

La importancia de la responsabilidad social empresarial (RSE) radica en el involucramiento y el compromiso de la empresa hacia los diferentes grupos de interés que interactúan. Algunos grupos son afectados a causa de las actividades operacionales de las organizaciones, generando impactos en dimensiones sociales, económicas y ambientales. El enfoque central de la investigación es la determinación de la incidencia de la RSE en los patrones de vida de los grupos que intervienen en la cadena de valor ecuatoriana. En adelante estos son llamados stakeholders. Se precisa como antesala, los hechos y precedentes que marcaron la evolución y participación del modelo de negocio en los diferentes países de Latinoamérica. Sobre esta base, se realiza una revisión conceptual de la responsabilidad social en las empresas, la ISO 26000 y la posición de los stakeholders. El estudio se fundamenta en un análisis comparativo de países como: Chile, Colombia y Ecuador; identificando similitudes de su entorno, particularidades, fortalezas y debilidades en materia de RSE.

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Objective: To report the successful use of lisdexamfetamine in the management of narcolepsy. Methods: Five narcoleptic patients received lisdexamfetamine, at different dosages and for different periods, for management of excessive daytime sleepiness and weight control. Results: All patients experienced improvement of excessive daytime sleepiness and lost weight without side effects. Conclusion: Lisdexamfetamine appears promising for the treatment of two of the most common symptoms of narcolepsy: excessive daytime sleepiness and weight gain.

Background Narcolepsy type 1 (NT1) is a rare and chronic neurological disease characterized by sudden sleep attacks, overwhelming daytime drowsiness, and cataplexy. When associated with a sudden loss of muscle tone (cataplexy) narcolepsy is classified as type 1, while the absence of cataplexy indicates type 2. Genetic, degenerative, and immunological hypotheses to explain the pathophysiology of NT1 are still a matter of debate. To contribute to the understanding of NT1 genetic basis, here we describe, for the first time, a whole genome analysis of a monozygotic twin pair discordant for NT1. Case presentation We present the case of a pair of 17-year-old male, monozygotic twins discordant for NT1. The affected twin had Epworth Sleepiness Scale (ESS) of 20 (can range from 0 to 24), cataplexy, hypnagogic hallucinations, polysomnography without abnormalities, multiple sleep latency tests (MSLT) positive for narcolepsy, a mean sleep latency of 3 min, sleep-onset REM periods SOREMPs of 5, presence of allele HLA-DQB1*06:02, and Hypocretin-1 level of zero pg/mL (normal values are > 200 pg/mL). The other twin had no narcolepsy symptoms (ESS of 4), normal polysomnography, MSLT without abnormalities, presence of allele HLA-DQB1*06:02, and Hypocretin-1 level of 396,74 pg/mL. To describe the genetic background for the NT1 discordant manifestations in this case, we present the whole-genome analysis of this monozygotic twin pair. The whole-genome comparison revealed that both twins have identical NT1 pathogenic mutations in known genes, such as HLA-DQB1*06:02:01, HLA-DRB1*11:01:02/*15:03:01. The affected twin has the expected clinical manifestation while the unaffected twin has an unexpected phenotype. The unaffected twin has significantly more frameshift mutations as compared to the affected twin (108 versus 75) and mutations that affect stop codons (61 versus 5 in stop gain, 26 versus 2 in start lost). Conclusions The differences observed in frameshift and stop codon mutations in the unaffected twin are consistent with loss-of-function effects and protective alleles, that are almost always associated with loss-of-function rare alleles. Also, overrepresentation analysis of genes containing variants with potential clinical relevance in the unaffected twin shows that most mutations are in genes related to immune regulation function, Golgi apparatus, MHC, and olfactory receptor. These observations support the hypothesis that NT1 has an immunological basis although protective mutations in non-HLA alleles might interfere with the expression of the NT1 phenotype and consequently, with the clinical manifestation of the disease.