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1.
J Sleep Res ; 33(2): e14011, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37572055

RESUMEN

Little attention has been paid to the long-term development of idiopathic hypersomnia symptoms and idiopathic hypersomnia comorbidities. The aim of this study was to describe the general health of patients with idiopathic hypersomnia years after the initial diagnosis, focusing on current subjective hypersomnolence and the presence of its other possible causes. Adult patients diagnosed with idiopathic hypersomnia ≥ 3 years ago at sleep centres in Prague and Kosice were invited to participate in this study. A total of 60 patients were examined (age 47.3 ± SD = 13.2 years, 66.7% women). In all participants, their hypersomnolence could not be explained by any other cause but idiopathic hypersomnia at the time of diagnosis. The mean duration of follow-up was 9.8 + 8.0 years. Fifty patients (83%) reported persisting hypersomnolence, but only 33 (55%) had no other disease that could also explain the patient's excessive daytime sleepiness and/or prolonged sleep. In two patients (3%), the diagnosis in the meantime had changed to narcolepsy type 2, and 15 patients (25%) had developed a disease or diseases potentially causing hypersomnolence since the initial diagnosis. Complete hypersomnolence resolution without stimulant treatment lasting longer than 6 months was reported by 10 patients (17%). To conclude, in a longer interval from the diagnosis of idiopathic hypersomnia, hypersomnolence may disappear or may theoretically be explained by another newly developed disease, or the diagnosis may be changed to narcolepsy type 2. Thus, after 9.8 years, only 55% of the examined patients with idiopathic hypersomnia had a typical clinical picture of idiopathic hypersomnia without doubts about the cause of the current hypersomnolence.


Asunto(s)
Trastornos de Somnolencia Excesiva , Hipersomnia Idiopática , Narcolepsia , Adulto , Humanos , Femenino , Persona de Mediana Edad , Masculino , Hipersomnia Idiopática/diagnóstico , Hipersomnia Idiopática/epidemiología , Hipersomnia Idiopática/tratamiento farmacológico , Trastornos de Somnolencia Excesiva/diagnóstico , Trastornos de Somnolencia Excesiva/epidemiología , Trastornos de Somnolencia Excesiva/complicaciones , Narcolepsia/diagnóstico , Narcolepsia/epidemiología , Comorbilidad , Atención
2.
Proc Natl Acad Sci U S A ; 118(12)2021 03 23.
Artículo en Inglés | MEDLINE | ID: mdl-33737391

RESUMEN

Kleine-Levin syndrome (KLS) is a rare disorder characterized by severe episodic hypersomnia, with cognitive impairment accompanied by apathy or disinhibition. Pathophysiology is unknown, although imaging studies indicate decreased activity in hypothalamic/thalamic areas during episodes. Familial occurrence is increased, and risk is associated with reports of a difficult birth. We conducted a worldwide case-control genome-wide association study in 673 KLS cases collected over 14 y, and ethnically matched 15,341 control individuals. We found a strong genome-wide significant association (rs71947865, Odds Ratio [OR] = 1.48, P = 8.6 × 10-9) within the 3'region of TRANK1 gene locus, previously associated with bipolar disorder and schizophrenia. Strikingly, KLS cases with rs71947865 variant had significantly increased reports of a difficult birth. As perinatal outcomes have dramatically improved over the last 40 y, we further stratified our sample by birth years and found that recent cases had a significantly reduced rs71947865 association. While the rs71947865 association did not replicate in the entire follow-up sample of 171 KLS cases, rs71947865 was significantly associated with KLS in the subset follow-up sample of 59 KLS cases who reported birth difficulties (OR = 1.54, P = 0.01). Genetic liability of KLS as explained by polygenic risk scores was increased (pseudo R2 = 0.15; P < 2.0 × 10-22 at P = 0.5 threshold) in the follow-up sample. Pathway analysis of genetic associations identified enrichment of circadian regulation pathway genes in KLS cases. Our results suggest links between KLS, circadian regulation, and bipolar disorder, and indicate that the TRANK1 polymorphisms in conjunction with reported birth difficulties may predispose to KLS.


Asunto(s)
Citocinas/genética , Susceptibilidad a Enfermedades , Variación Genética , Síndrome de Kleine-Levin/complicaciones , Síndrome de Kleine-Levin/genética , Complicaciones del Trabajo de Parto/epidemiología , Complicaciones del Trabajo de Parto/etiología , Trastorno Bipolar/etiología , Trastornos de Somnolencia Excesiva/etiología , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Síndrome de Kleine-Levin/epidemiología , Masculino , Oportunidad Relativa , Polimorfismo Genético , Embarazo , Medición de Riesgo , Factores de Riesgo
3.
Cas Lek Cesk ; 158(7-8): 321-322, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31996002

RESUMEN

There are sex differences in sleep from a very early age till adulthood and older age. The changing hormone profile across the reproductive life of a woman, from puberty through the reproductive period to the postmenopausal years, has a significant influence on sleep. Female hormones may lead to sleep disruption however, multiple factors play a role in insomnia during pregnancy as well as during menopause. Some sleep disorders, such as obstructive apnea and restless leg syndrome, are influenced by menstrual cycle, pregnancy and menopause.


Asunto(s)
Menopausia , Ciclo Menstrual , Trastornos del Inicio y del Mantenimiento del Sueño , Trastornos del Sueño-Vigilia , Adulto , Anciano , Femenino , Humanos , Masculino , Embarazo , Sueño
4.
PLoS Genet ; 9(2): e1003270, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23459209

RESUMEN

Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis for narcolepsy/hypocretin (orexin) deficiency. We genotyped loci associated with other autoimmune and inflammatory diseases in 1,886 individuals with hypocretin-deficient narcolepsy and 10,421 controls, all of European ancestry, using a custom genotyping array (ImmunoChip). Three loci located outside the Human Leukocyte Antigen (HLA) region on chromosome 6 were significantly associated with disease risk. In addition to a strong signal in the T cell receptor alpha (TRA@), variants in two additional narcolepsy loci, Cathepsin H (CTSH) and Tumor necrosis factor (ligand) superfamily member 4 (TNFSF4, also called OX40L), attained genome-wide significance. These findings underline the importance of antigen presentation by HLA Class II to T cells in the pathophysiology of this autoimmune disease.


Asunto(s)
Presentación de Antígeno , Enfermedades Autoinmunes , Narcolepsia/genética , Receptores de Antígenos de Linfocitos T alfa-beta , Presentación de Antígeno/genética , Presentación de Antígeno/inmunología , Enfermedades Autoinmunes/genética , Enfermedades Autoinmunes/inmunología , Enfermedades Autoinmunes/metabolismo , Estudios de Asociación Genética , Antígenos HLA/genética , Antígenos HLA/inmunología , Humanos , Péptidos y Proteínas de Señalización Intracelular/genética , Péptidos y Proteínas de Señalización Intracelular/inmunología , Péptidos y Proteínas de Señalización Intracelular/metabolismo , Narcolepsia/inmunología , Narcolepsia/fisiopatología , Neuropéptidos/genética , Neuropéptidos/inmunología , Neuropéptidos/metabolismo , Orexinas , Receptores de Antígenos de Linfocitos T alfa-beta/genética , Receptores de Antígenos de Linfocitos T alfa-beta/metabolismo , Población Blanca
5.
Prague Med Rep ; 117(2-3): 81-89, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27668524

RESUMEN

Narcolepsy-cataplexy (NC) is a chronic neurological disease with suggested autoimmune etiopathogenesis. Nicotine stimulates central nervous system and smoking increases the risk of autoimmune diseases. Assessment of smoking habits and its correlation to clinical parameters among 87 adult NC patients (38 male, 49 female) included night polysomnography and multiple sleep latency test. In our sample, 43.7% NC patients were regular smokers, and 19.5% former smokers compared to 22.2%, and 12.6%, respectively, in the general population. Patients started to smoke in the mean age of 20.0 (SD ±6.0) years. 72.2% of NC smokers started to smoke before the onset of NC and the mean of the delay between smoking onset and NC onset was 9.1 (±5.8) years. We found a direct correlation between smoking duration and the number of awakenings, duration of N1 sleep, REM sleep latency, and apnoea/hypopnoea index (AHI), and, on the contrary, indirect correlation between smoking duration and N3 sleep duration, showing that smoking duration consistently correlates with sleep macrostructure. Smoking is highly prevalent in NC and has relationship with clinical features of NC.


Asunto(s)
Cataplejía/epidemiología , Narcolepsia/epidemiología , Fumar/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Cataplejía/diagnóstico , Cataplejía/tratamiento farmacológico , Estimulantes del Sistema Nervioso Central/uso terapéutico , Comorbilidad , República Checa , Femenino , Humanos , Masculino , Persona de Mediana Edad , Narcolepsia/diagnóstico , Narcolepsia/tratamiento farmacológico , Polisomnografía , Prevalencia , Factores de Riesgo , Síndromes de la Apnea del Sueño/epidemiología , Adulto Joven
6.
Curr Neurol Neurosci Rep ; 15(1): 522, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25434476

RESUMEN

Niemann-Pick disease type C (NP-C) is a rare and progressive autosomal recessive disease leading to disabling neurological manifestation and premature death. The disease is prone to underdiagnosis because of its highly heterogeneous presentation. NP-C is characterized by visceral, neurological, and psychiatric manifestation, and its clinical picture varies according to age at onset. Although cataplexy is one of its characteristic symptoms, particularly in the late infantile and juvenile form, sleep disturbances are described only exceptionally. A combination of splenomegaly, vertical supranuclear gaze palsy, and cataplexy creates a most useful suspicion index tool for the disease. In adolescent and adult patients, when intellectual deterioration progresses and emotional reactions become flat, cataplexy usually disappears. Pathological findings in the brainstem in NP-C mouse model are compatible with the patients' symptoms including cataplexy. The authors observed cataplexy in 5 (3 with late infantile and 2 with juvenile form) out of 22 NP-C cases followed up in the past 20 years.


Asunto(s)
Cataplejía/fisiopatología , Enfermedad de Niemann-Pick Tipo C/fisiopatología , Trastornos del Sueño-Vigilia/fisiopatología , Animales , Cataplejía/diagnóstico , Cataplejía/patología , Cataplejía/terapia , Humanos , Enfermedad de Niemann-Pick Tipo C/diagnóstico , Enfermedad de Niemann-Pick Tipo C/patología , Enfermedad de Niemann-Pick Tipo C/terapia , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/patología , Trastornos del Sueño-Vigilia/terapia
7.
Neuro Endocrinol Lett ; 36(5): 430-3, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26707042

RESUMEN

OBJECTIVES: Antidepressants substantially affect REM sleep characteristics and trigger manifestations of REM sleep behavior disorder (RBD) in the general, non-narcoleptic, population. Antidepressants are also frequently administrated in an attempt to suppress cataplexy. We investigated the role of antidepressants in the development of RBD in narcolepsy with cataplexy (NC) patients. PATIENTS/METHODS: Seventy-five patients diagnosed with NC were assessed by a structured interview (focused on RBD manifestations and the use of antidepressants) and night video-polysomnography followed by the multiple sleep latency test. RESULTS: Of all 75 NC patients (36 male, 39 female; mean age 46.1±18.5 years), 34 cases had a history of antidepressant use (45.3%; 18 male, 16 female). In this antidepressant-positive group, 13 patients suffered from RBD (38.2%). Among antidepressant-naïve patients, only 5 subjects (12.2%) were diagnosed with RBD. Polysomnographic data showed significantly increased REM latency (p<0.01) and reduced percentage of REM sleep (p<0.01) in the antidepressant-positive group, as well as more periodic limb movements during sleep (p=0.01). CONCLUSIONS: NC patients with a history of antidepressant use showed a three-fold higher occurrence of RBD in comparison to antidepressant-naïve patients.


Asunto(s)
Antidepresivos/efectos adversos , Trastorno Depresivo/tratamiento farmacológico , Narcolepsia/inducido químicamente , Narcolepsia/fisiopatología , Trastorno de la Conducta del Sueño REM/inducido químicamente , Sueño REM/efectos de los fármacos , Adulto , Anciano , Antidepresivos/uso terapéutico , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Narcolepsia/epidemiología , Polisomnografía , Trastorno de la Conducta del Sueño REM/fisiopatología , Estudios Retrospectivos , Factores de Riesgo , Adulto Joven
8.
Curr Neurol Neurosci Rep ; 14(8): 469, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24954623

RESUMEN

Narcolepsy in children is a serious disorder marked by a chronic course and lifelong handicap in school performance and choice of employment, by free time activity limitation, and by behavior and personality changes, all of which constitute a major influence on the quality of life. Increased daytime sleepiness may be the only sign at the disease onset, with attacks of sleep becoming longer and lasting up to hours. Also present may be confusional arousals with features of sleep drunkenness. Paradoxically, preschool and young children may show inattentiveness, emotional lability, and hyperactive behavior. Cataplexy may develop after onset of sleepiness and affect mainly muscles of the face. Hypnagogic hallucinations and sleep paralysis are seldom present. Multiple Sleep Latency Test criteria are not available for children younger than 6 years. The haplotype (HLA-DQB1:0602) can be associated with the disorder; however, the best predictor of narcolepsy-cataplexy is hypocretin deficiency. The treatment generally used in adults is regarded as off-label in childhood, which is why the management of pediatric narcolepsy is difficult.


Asunto(s)
Narcolepsia/diagnóstico , Narcolepsia/terapia , Niño , Humanos
9.
PLoS Genet ; 7(7): e1002171, 2011 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-21779176

RESUMEN

Restless legs syndrome (RLS) is a sensorimotor disorder with an age-dependent prevalence of up to 10% in the general population above 65 years of age. Affected individuals suffer from uncomfortable sensations and an urge to move in the lower limbs that occurs mainly in resting situations during the evening or at night. Moving the legs or walking leads to an improvement of symptoms. Concomitantly, patients report sleep disturbances with consequences such as reduced daytime functioning. We conducted a genome-wide association study (GWA) for RLS in 922 cases and 1,526 controls (using 301,406 SNPs) followed by a replication of 76 candidate SNPs in 3,935 cases and 5,754 controls, all of European ancestry. Herein, we identified six RLS susceptibility loci of genome-wide significance, two of them novel: an intergenic region on chromosome 2p14 (rs6747972, P = 9.03 × 10(-11), OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 × 10(-19), OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 5'-end of TOX3 and the adjacent non-coding RNA BC034767.


Asunto(s)
Cromosomas Humanos Par 16/genética , Cromosomas Humanos Par 2/genética , Sitios Genéticos/genética , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo , Síndrome de las Piernas Inquietas/genética , Humanos , Polimorfismo de Nucleótido Simple/genética , Reproducibilidad de los Resultados , Factores de Riesgo
10.
Sleep Med ; 113: 220-231, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38056084

RESUMEN

STUDY OBJECTIVES: Microbial antigens can elicit an immune response leading to the production of autoantibodies cross-reacting with autoantigens. Still, their clinical significance in human sera in the context of brain diseases is unclear. Therefore, assessment of natural autoantibodies reacting with their neuropeptides may elucidate the autoimmune etiology of central hypersomnias. The study aims to determine whether serum autoantibody levels differ in patients with different types of central hypersomnias (narcolepsy type 1 and 2, NT1 and NT2; idiopathic hypersomnia, IH) and healthy controls and if the differences could suggest the participation of autoantibodies in disease pathogenesis. METHODS: Sera from 91 patients with NT1, 27 with NT2, 46 with IH, and 50 healthy controls were examined for autoantibodies against assorted neuropeptides. Participants were screened using questionnaires related to sleep disorders, quality of life, and mental health conditions. In addition, serum biochemical parameters and biomarkers of microbial penetration through the intestinal wall were determined. RESULTS: A higher prevalence of autoantibodies against neuropeptides was observed only for alpha-melanocytes-stimulating hormone (α-MSH) and neuropeptide glutamic acid-isoleucine (NEI), which differed slightly among diagnoses. Patients with both types of narcolepsy exhibited signs of microbial translocation through the gut barrier. According to the questionnaires, patients diagnosed with NT2 or IH had subjectively worse life quality than patients with NT1. Patients displayed significantly lower levels of bilirubin and creatinine and slightly higher alkaline phosphatase values than healthy controls. CONCLUSIONS: Overall, serum anti-neuronal antibodies prevalence is rare, suggesting that their participation in the pathophysiology of concerned sleep disorders is insignificant. Moreover, their levels vary slightly between diagnoses indicating no major diagnostic significance.


Asunto(s)
Trastornos de Somnolencia Excesiva , Narcolepsia , Neuropéptidos , Humanos , Calidad de Vida , Trastornos de Somnolencia Excesiva/epidemiología , Narcolepsia/epidemiología , Autoanticuerpos
11.
Sleep Med ; 113: 95-102, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37995475

RESUMEN

In recent years, there has been an increased interest in elucidating the influence of the gut microbiota on sleep physiology. The gut microbiota affects the central nervous system by modulating neuronal pathways through the neuroendocrine and immune system, the hypothalamus-pituitary-adrenal axis, and various metabolic pathways. The gut microbiota can also influence circadian rhythms. In this study, we observed the gut microbiota composition of patients suffering from narcolepsy type 1, narcolepsy type 2, and idiopathic hypersomnia. We did not observe any changes in the alpha diversity of the gut microbiota among patient groups and healthy controls. We observed changes in beta diversity in accordance with Jaccard dissimilarities between the control group and groups of patients suffering from narcolepsy type 1 and idiopathic hypersomnia. Our results indicate that both these patient groups differ from controls relative to the presence of rare bacterial taxa. However, after adjustment for various confounding factors such as BMI, age, and gender, there were no statistical differences among the groups. This indicates that the divergence in beta diversity in the narcolepsy type 1 and idiopathic hypersomnia groups did not arise due to sleep disturbances. This study implies that using metabolomics and proteomics approaches to study the role of microbiota in sleep disorders might prove beneficial.


Asunto(s)
Trastornos de Somnolencia Excesiva , Microbioma Gastrointestinal , Hipersomnia Idiopática , Narcolepsia , Trastornos del Sueño-Vigilia , Humanos , Sueño
12.
J Sleep Res ; 22(5): 496-512, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23560595

RESUMEN

In a retrospective cohort study undertaken in 12 European countries, 249 female narcoleptic patients with cataplexy (n = 216) and without cataplexy (n = 33) completed a self-administrated questionnaire regarding pregnancy and childbirth. The cohort was divided further into patients whose symptoms of narcolepsy started before or during pregnancy (308 pregnancies) and those in whom the first symptoms of narcolepsy appeared after delivery (106 pregnancies). Patients with narcolepsy during pregnancy were older during their first pregnancy (P < 0.001) and had a higher body mass index (BMI) prior to pregnancy (P < 0.01). Weight gain during pregnancy was higher in narcoleptic patients with cataplexy (P < 0.01). More patients with narcolepsy-cataplexy during pregnancy had impaired glucose metabolism and anaemia. Three patients experienced cataplexy during delivery. The rate of caesarean sections was higher in the narcolepsy-cataplexy group compared to the narcolepsy group (P < 0.05). The mean birth weight and gestational age of neonates were within the normal range and did not differ across groups. Neonatal care was affected adversely by symptoms of narcolepsy in 60.1% of those with narcolepsy during pregnancy. This study reports more obstetric complications in patients with narcolepsy-cataplexy during pregnancy; however, these were not severe. This group also had a higher BMI and higher incidence of impaired glucose metabolism during pregnancy. Caesarian section was conducted more frequently in narcolepsy-cataplexy patients, despite cataplexy being a rare event during delivery. Furthermore, symptoms of narcolepsy may render care of the infant more difficult.


Asunto(s)
Narcolepsia/epidemiología , Complicaciones del Embarazo/epidemiología , Anemia/epidemiología , Peso al Nacer , Índice de Masa Corporal , Lactancia Materna , Cataplejía/epidemiología , Cesárea/estadística & datos numéricos , Estudios de Cohortes , Europa (Continente) , Femenino , Edad Gestacional , Humanos , Recién Nacido , Persona de Mediana Edad , Periodo Posparto/psicología , Embarazo , Estudios Retrospectivos , Autoinforme , Encuestas y Cuestionarios , Factores de Tiempo , Aumento de Peso
13.
Nat Commun ; 14(1): 2709, 2023 05 15.
Artículo en Inglés | MEDLINE | ID: mdl-37188663

RESUMEN

Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB1*03:01 and DPB1*04:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals at TRA and DQB1*06:02 loci were found in 245 vaccination-related cases, who also shared polygenic risk. T cell receptor associations in NT1 modulated TRAJ*24, TRAJ*28 and TRBV*4-2 chain-usage. Partitioned heritability and immune cell enrichment analyses found genetic signals to be driven by dendritic and helper T cells. Lastly comorbidity analysis using data from FinnGen, suggests shared effects between NT1 and other autoimmune diseases. NT1 genetic variants shape autoimmunity and response to environmental triggers, including influenza A infection and immunization with Pandemrix®.


Asunto(s)
Enfermedades Autoinmunes , Subtipo H1N1 del Virus de la Influenza A , Vacunas contra la Influenza , Gripe Humana , Narcolepsia , Humanos , Autoinmunidad/genética , Gripe Humana/epidemiología , Gripe Humana/genética , Subtipo H1N1 del Virus de la Influenza A/genética , Enfermedades Autoinmunes/epidemiología , Enfermedades Autoinmunes/genética , Vacunas contra la Influenza/efectos adversos , Narcolepsia/inducido químicamente , Narcolepsia/genética
14.
J Inherit Metab Dis ; 35(3): 541-8, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-22139496

RESUMEN

BACKGROUND & AIMS: Wilson disease (WD) is an inherited disorder of copper disposition caused by an ATP7B transporter gene mutation, leading to copper accumulation in predisposed tissues. In addition to a genetic predisposition, other factors are likely to contribute to its clinical manifestation. The aim of the study was to assess whether oxidative stress affects the phenotypic manifestation of WD. METHODS: In 56 patients with WD (29 men; 26 with the hepatic form, 22 with the neurologic form, and eight asymptomatic; mean age 38.5 ± 12 years), total serum antioxidant capacity (TAC) and inflammatory parameters (hs-CRP, IL-1ß, IL-2, IL-6, IL-10, and TNF-α) were analyzed and related to the clinical manifestation, and mutations of the ATP7B gene. The control group for the TAC and inflammatory parameters consisted of 50 age- and gender-matched healthy individuals. RESULTS: WD patients had a significantly lower TAC (p < 0.00001), lower IL-10 levels (p = 0.039), as well as both higher IL-1ß (p = 0.019) and IL-6 (p = 0.005) levels compared to the control subjects. TNF-α, hs-CRP, and IL-2 did not differ from the controls. Patients with the neurological form of WD had a significantly lower TAC than those with the hepatic form (p < 0.001). In addition, the lower TAC was associated with the severity of the neurological symptoms (p = 0.02). No relationship between the inflammatory parameters and clinical symptoms was found. CONCLUSIONS: Data from our study suggest that the increased oxidative stress contributes significantly to the clinical manifestation of WD; as a lower TAC is associated with the neurological symptoms in WD patients.


Asunto(s)
Adenosina Trifosfatasas/genética , Antioxidantes/metabolismo , Proteínas de Transporte de Catión/genética , Degeneración Hepatolenticular/sangre , Mutación , Enfermedades del Sistema Nervioso/sangre , Adulto , Cobre/metabolismo , ATPasas Transportadoras de Cobre , Femenino , Predisposición Genética a la Enfermedad , Humanos , Interleucina-10/metabolismo , Interleucina-1beta/metabolismo , Interleucina-6/metabolismo , Masculino , Persona de Mediana Edad , Estrés Oxidativo
15.
Front Neurol ; 13: 902637, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35756941

RESUMEN

Aims of the study: Commonly used approach to illness assessment focuses on the patient's actual state supplemented by binary records of past events and conditions. This research project was designed to explain subjective experience in idiopathic hypersomnia (IH) patients influenced by their clinical symptoms and comorbidities. Material and Methods: Forty-three IH patients of both sexes (female 60.5%, male 39.5%) were assessed using a detailed structured examination. The interview covered neurologic, psychiatric, and internal medicine anamnesis, medication past and current, substance abuse, work impairment, detailed sleep-related data, specific sleep medication, and a full-length set of questionnaires including depression, quality of life, sleepiness, anxiety, fatigue, insomnia, and sleep inertia. The data were digitized and imported into statistical software (SPSS by IBM), and dynamic simulation software (Vensim by Ventana Systems Inc.) was used to build a causal loop diagram and stocks and flows diagram as a simulation structure. Results: The overall raw data and simulation-based patterns fit at 76.1%. The simulation results also identified the parameters that contribute the most to patients' subjective experience. These included sleep inertia, the refreshing potential of naps, the quality of nocturnal sleep, and the social aspects of the patient's life. Psychiatric disorders influence the overall pattern at a surprisingly low level. The influence of medication has been studied in detail. Although its contribution to the dynamics looks marginal at first sight, it significantly influences the contribution of other variables to the overall patient experience of the disease. Conclusion: Even the simplified dynamic structure designed by the research team reflects the real-life events in patients with IH at the acceptable level of 76.1% and suggests that a similar structure plays an important role in the course of the disease. Therapeutic focus on the parameters identified by the model should enhance the patients' subjective experience throughout illness duration and might even turn the progress from negative into positive. Further research is needed to understand the dynamics of idiopathic hypersomnia in greater detail to better understand the causes and design therapeutic approaches to improve patients' quality of life.

16.
Pediatr Neurol ; 127: 28-31, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34942585

RESUMEN

BACKGROUND: Delayed sleep-wake phase disorder (DSWPD) is a chronic condition with a multifactorial etiology that primarily affects adolescents, significantly influencing their quality of life. In clinical practice, the contribution of intrinsic and behavioral factors is difficult to determine. The aim of our study was to compare data from clinical interviews, sleep diaries, actigraphy, and nocturnal polysomnography (PSG) in a cohort of adolescents with DSWPD and to assess psychiatric/neurodevelopmental comorbidity. METHODS: Thirty-one patients (22 male; mean age 15.4 ± 2.2 years, range 12 to 19 years) with a diagnosis of DSWPD based on detailed history, sleep diary, and actigraphy underwent nocturnal polysomnography (PSG) and neurological, psychological, and psychiatric examination. RESULTS: Attention-deficit/hyperactivity disorder (ADHD) was present in 14 cases (45%), specific learning difficulties in nine (29%), and mood disorder (anxiety/depression) in 16 patients (52%). PSG revealed sleep-onset delay in only 12 (38%) cases. No differences in clinical data or psychiatric comorbidity between the group with sleep delay and the group with normal sleep onset were detected. Decreased total sleep time, sleep efficiency, rapid eye movement (REM) sleep, and prolonged REM sleep latency were observed in patients with delayed sleep onset. CONCLUSIONS: PSG showed delayed sleep timing in only 38% of patients with a diagnosis of DSWPD based on diagnostic criteria of the International Classification of Sleep Disorders. We suggest that PSG can provide useful information regarding the prevailing etiology (biological versus behavioral) if dim light melatonin onset testing is not available.


Asunto(s)
Trastornos Mentales , Polisomnografía , Fases del Sueño/fisiología , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/fisiopatología , Actigrafía , Adolescente , Adulto , Trastornos de Ansiedad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Niño , Estudios de Cohortes , Comorbilidad , Trastorno Depresivo/epidemiología , Femenino , Humanos , Masculino , Trastornos Mentales/epidemiología , Trastornos del Sueño-Vigilia/epidemiología , Trastorno Específico de Aprendizaje/epidemiología , Adulto Joven
17.
Brain Sci ; 12(11)2022 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-36358417

RESUMEN

Fatigue, depression, and sleep inertia are frequently underdiagnosed manifestations in narcolepsy and idiopathic hypersomnia. Our cross-sectional study design included diagnostic interview accompanied by assessment instruments and aimed to explore how these factors influence disease severity as well as to elucidate any sex predisposition. One hundred and forty-eight subjects (female 63%) were divided into narcolepsy type 1 (NT1; n = 87, female = 61%), narcolepsy type 2 (NT2; n = 22, female = 59%), and idiopathic hypersomnia (IH; n = 39, female = 69%). All subjects completed a set of questionnaires: Epworth Sleepiness Scale (ESS), Hospital Anxiety and Depression Scales (HADS), Fatigue Severity Scale (FSS), and Sleep Inertia Questionnaire (SIQ). In narcoleptic subjects, questionnaire data were correlated with the Narcolepsy Severity Scale (NSS), and in subjects with idiopathic hypersomnia, with the Idiopathic Hypersomnia Severity Scale (IHSS). The highest correlation in narcoleptic subjects was found between NSS and ESS (r = 0.658; p < 0.0001), as well as FSS (r = 0.506; p < 0.0001), while in subjects with idiopathic hypersomnia, the most prominent positive correlations were found between IHSS and SIQ (r = 0.894; p < 0.0001), FSS (r = 0.812; p < 0.0001), HADS depression scale (r = 0.649; p = 0.0005), and HADS anxiety scale (r = 0.528; p < 0.0001). ESS showed an analogic correlation with disease severity (r = 0.606; p < 0.0001). HADS anxiety and depression scores were higher in females (p < 0.05 and p < 0.01), with similar results for FSS and SIQ scales (p < 0.05 for both), and a trend toward higher ESS values in females (p = 0.057). Our study illustrates that more attention should be focused on pathophysiological mechanisms and associations of fatigue, depression, as well as sleep inertia in these diseases; they influence the course of both illnesses, particularly in women.

18.
Liver Int ; 31(1): 83-91, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20958917

RESUMEN

BACKGROUND AND AIMS: Wilson disease (WD) is an inherited disorder of copper metabolism. When treated, the outcome can be excellent, although the long-term survival has yet to be well documented. The aim of this study was to describe the long-term outcome of a cohort of patients with WD and to assess those factors affecting the phenotypic manifestation of WD. METHODS: The presence of mutations to the ATP7B gene, the clinical manifestations, treatments and the long-term outcomes were analysed retrospectively in 117 patients with WD (59 men and 58 women, aged at evaluation 38.5 ± 11, range 16-63 years). RESULTS: Fifty-five patients with a neurological presentation, 51 patients with a hepatic presentation and 11 asymptomatic patients were followed up for an average of 15.1 ± 10 years (median 12 years, range 1-41 years). The H1069Q ATP7B gene mutation was the most frequent genetic variant (54.3%); the frequency of this mutation did not differ between patients with either the hepatic or the neurological presentation (P = 0.099). d-penicillamine or zinc salts (81 and 17% respectively) were used for treatment, and three patients underwent liver transplantation. The majority of symptomatic patients became asymptomatic, or improved, during the follow-up (82% patients with hepatic presentation, 69% with neurological presentation). The long-term survival of patients with WD did not differ from that of the general Czech population (P = 0.95). CONCLUSIONS: Long-term follow-up shows a satisfactory response in the great majority of adequately treated patients with WD and survival coincides with that of the general population.


Asunto(s)
Adenosina Trifosfatasas/genética , Proteínas de Transporte de Catión/genética , Cobre/metabolismo , Degeneración Hepatolenticular/genética , Mutación , Adenosina Trifosfatasas/metabolismo , Adolescente , Adulto , Enfermedades Asintomáticas , Proteínas de Transporte de Catión/metabolismo , Quelantes/metabolismo , Distribución de Chi-Cuadrado , ATPasas Transportadoras de Cobre , República Checa , Análisis Mutacional de ADN , Progresión de la Enfermedad , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Degeneración Hepatolenticular/enzimología , Degeneración Hepatolenticular/mortalidad , Degeneración Hepatolenticular/terapia , Humanos , Estimación de Kaplan-Meier , Trasplante de Hígado , Masculino , Persona de Mediana Edad , Penicilamina/uso terapéutico , Fenotipo , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven , Acetato de Zinc/uso terapéutico , Sulfato de Zinc/uso terapéutico
19.
Brain ; 133(Pt 12): 3598-610, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20974617

RESUMEN

Alternating hemiplegia of childhood is a neurological disorder characterized by episodes of hemiplegia, various non-epileptic paroxysmal events and global neurological impairment. Characterization of the evolution and outcome into adulthood has not been sufficiently investigated. The goal of this study was to elucidate the natural history of alternating hemiplegia within a large cohort of 157 patients, as part of the European Network for Research on Alternating Hemiplegia project. A questionnaire was formulated to determine the severity of both paroxysmal and global neurological impairment and address progression of the disorder by allocating data to specific age epochs up to and over 24 years of age. Patients in early age groups were consistently present in subsequent later age groups and for each patient, data were collected for each corresponding age epoch. The study was based on predominantly retrospective and, for a period of 2 years, prospective data. At inclusion, patients were aged from 9 months to 52 years. The median age at diagnosis was 20 months. All patients experienced hemiplegic attacks; 86.5% reported episodes of bilateral weakness, 88% dystonic attacks, 53% epileptic seizures, 72% developed chorea and/or dystonia and 92% mental retardation. When data over the course of the illness were examined for the whole cohort, the severity of symptoms did not appear to change, with the exception of abnormal ocular movements and hypotonia that regressed, but did not disappear into adulthood (from 86 to 36% and 76 to 36%, respectively). No statistically significant correlation between a history of severe paroxysmal hemiplegic/dystonic episodes and a worse neurological outcome was identified. Seven patients died, some of whom experienced severe plegic attacks or epileptic seizures at the time of death. History of severe plegic/dystonic attacks was not found to be an aggravating factor for deceased patients. Our results provide evidence that the natural history of alternating hemiplegia is highly variable and unpredictable for individual patients. However, we did not find evidence to support a steadily progressive and degenerative course of the disorder when patients were analysed as a group. For a minority of patients, a risk of sudden death was associated with more severe neurological impairment. The European Network for Research on Alternating Hemiplegia Registry, validated by our study, includes all major neurological signs and symptoms of alternating hemiplegia and may thus be used as a precedent for the progressive inclusion and follow-up of patients as well as a reference for genetic studies and treatment trials.


Asunto(s)
Hemiplejía/patología , Adolescente , Adulto , Envejecimiento/fisiología , Enfermedades del Sistema Nervioso Autónomo/etiología , Enfermedades del Sistema Nervioso Autónomo/fisiopatología , Niño , Preescolar , Estudios de Cohortes , Recolección de Datos , Interpretación Estadística de Datos , Evaluación de la Discapacidad , Progresión de la Enfermedad , Epilepsia/etiología , Europa (Continente) , Femenino , Lateralidad Funcional/fisiología , Cefalea/etiología , Hemiplejía/diagnóstico , Hemiplejía/mortalidad , Humanos , Lactante , Masculino , Persona de Mediana Edad , Trastornos de la Motilidad Ocular/etiología , Sistema de Registros , Estudios Retrospectivos , Convulsiones/etiología , Trastornos del Sueño-Vigilia/etiología , Encuestas y Cuestionarios , Resultado del Tratamiento , Adulto Joven
20.
Med Sci Monit ; 17(12): CS149-51, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22129906

RESUMEN

BACKGROUND: Nocturnal sleep of patients suffering from various forms of dementia is often impaired by nocturnal agitation or nocturnal wandering. Anticonvulsives such as carbamazepine or valproate are reported to have some therapeutic efficacy, but there is little information about other drugs suitable for treatment of this condition. CASE REPORT: Our patient, a 77-year-old Czech woman with incipient vascular dementia, received gabapentin 400mg at bedtime for 6 months and showed convincing improvement. CONCLUSIONS: Gabapentin was very effective in treating nocturnal agitation.


Asunto(s)
Aminas/uso terapéutico , Ansiolíticos/uso terapéutico , Ácidos Ciclohexanocarboxílicos/uso terapéutico , Oscuridad , Demencia/complicaciones , Demencia/tratamiento farmacológico , Agitación Psicomotora/complicaciones , Agitación Psicomotora/tratamiento farmacológico , Ácido gamma-Aminobutírico/uso terapéutico , Anciano , Femenino , Gabapentina , Humanos
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