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1.
Rheumatol Adv Pract ; 8(3): rkae083, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39055541

RESUMEN

Objectives: We describe the clinical pictures of an index case with dystonia and his family resulting from VPS16 and MEFV genetic variations based on previously published data and discuss the mechanisms that may have brought out the clinical findings. Methods: A 17-year-old male had generalized dystonia that started at age 6 years, non-febrile abdominal pain attacks and was diagnosed with type 1 diabetes at age 14 years. Meanwhile, his 13-year-old sister had the same clinical presentation. His father was diabetic and his mother was asymptomatic. There was no consanguinity between the parents. Genetic variations were detected with whole exome sequencing. Results: VPS16 c.1513C>T/p.Arg505* (likely pathogenic), MEFV c.2080A>G p.Met694val (pathogenic) and MEFV c.1772T>C p.Ile591Thr (unknown significance) heterozygous variants were detected in his siblings. The father had VPS16 c.1513C>T/p.Arg505* and MEFV c.2080A>G p Met694val variations and the mother had MEFV c.1772T>C p.Ile591Thr variations. Conclusions: The occurrence of these diseases in siblings but their absence in the parents suggests the idea that the coexistence of two separate variations in the VPS16 and MEFV genes determines the phenotype. In addition, the increase in MEFV variation load in this family and the fact that DM occurs at an earlier age suggest that inflammation may cause an early diabetic clinical presentation.

2.
Mult Scler Relat Disord ; 83: 105391, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38335838

RESUMEN

BACKGROUND/AIM: Multiple sclerosis (MS) is an inflammatory demyelinating central nervous system (CNS) disease. Among the paraclinical tests, brain and spinal Magnetic Resonance Imaging (MRI) is primarily involved in the diagnosis process, and cerebrospinal fluid (CSF) analysis is fundamental in diagnosing MS and the differential diagnosis. A positive relationship was demonstrated between oligoclonal band (OCB) positivity, CSF band number and immunoglobulin G(IgG) index. The study aimed to evaluate whether the number of OCB can predict disease activity and determine a correlation with the IgG index. METHODS: Our study included 401 MS patients who had relapsing-remitting multiple sclerosis (RRMS), primary progressive multiple sclerosis (PPMS), secondary progressive multiple sclerosis (SPMS), clinic isolated syndrome (CIS), radiologic isolated syndrome (RIS), Neuromyelitis optica spectrum disorder (NMOSD) and Acute disseminated encephalomyelitis (ADEM) with OCB number groups of 2-4, 4-8, 8-12, and 12 and above. RESULTS: No significant correlation was observed between IgG index, pre-and post-treatment EDSS (Expanded Disability Status Scale Scores) and disease-modifying therapies (DMT). Drug response was better in the patient group with band number between 2 and 8 and post-treatment EDSS scores were lower (1.62±0.44). CONCLUSION: The study results suggested that band number may be as valuable as the IgG index and a predictive biomarker for disease activity.


Asunto(s)
Esclerosis Múltiple Crónica Progresiva , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Humanos , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/tratamiento farmacológico , Bandas Oligoclonales/líquido cefalorraquídeo , Esclerosis Múltiple Crónica Progresiva/líquido cefalorraquídeo , Esclerosis Múltiple Recurrente-Remitente/líquido cefalorraquídeo , Inmunoglobulina G/uso terapéutico
3.
Clin Neurol Neurosurg ; 234: 108013, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37844432

RESUMEN

OBJECTIVE: The thromboinflammatory process is considered to play a role in the pathogenesis and prognosis of cerebral sinus vein thrombosis (CSVT). The purpose of the study was to compare the thromboinflammatory parameters between individuals with CSVT and healty controls. Additionally, the study sought to compare these parameters among CSVT subgroups with and without haemorrhage, as well as with and without papilledema. Furthermore, the investigation also aimed to identify which parameters had a more significant impact on the risk of hemorrhage and the development of papilledema in CSVT. METHODS: Thromboinflammatory parameters were compared retrospectively between the CSVT group of 88 patients and 80 age- and sex-matched healthy controls, and in the CSVT subgroups with (n = 35) /without hemorrhage (n = 53) and with (n = 52) /without papilledema (n = 36) after ethics committee approval. In both groups, parameters contributing to the risk of hemorrhage and papilledema development were determined by univariate and multivariate analyses. RESULTS: Regarding the risk of hemorrhage in CSVT patients, the most significant factors included hematocrit of <30.2 (%), mean platelet volume of ≤8.9 fL, neutrophil count of >5600, and hsCRP of >9 mg/L. Regarding the risk of papilledema development, the most important risk factors were age of ≤49, presence of vomiting, presence of blurred vision, HDL of >47 mg/dL, and D-dimer of >178 ng/mL. CONCLUSION: It was suggested that evaluating serum thromboinflammatory parameters, as well as demographic characteristics and neurological examination findings, had a critical role regarding prognosis and predictive factors in CSVT.


Asunto(s)
Papiledema , Trombosis de los Senos Intracraneales , Trombosis de la Vena , Humanos , Papiledema/complicaciones , Pronóstico , Estudios Retrospectivos , Trombosis de los Senos Intracraneales/complicaciones , Trombosis de los Senos Intracraneales/diagnóstico por imagen , Factores de Riesgo , Hemorragia/complicaciones , Trombosis de la Vena/complicaciones
4.
Int J Neurosci ; 132(7): 656-661, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33045894

RESUMEN

INTRODUCTION: Episodic ataxia is a clinical condition characterized by episodes of balance and coordination problems that last minutes to hours. It can be inherited or sporadic, and it can be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases. METHODS: In this article, we present a case of a patient who had a coincidental occurrence of episodic ataxia type 2 (EA2) and multiple sclerosis (MS) Results: The patient who had a previously unidentified heterozygous mutation in the calcium voltage-gated channel subunit alpha 1 A gene (CACNA1A). CONCLUSION: There is no publication in the literature reporting the co-occurrence of MS and EA2. This combination may be coincidental in this patient, or it may be a relationship that has not yet been scientifically revealed.


Asunto(s)
Migraña con Aura , Esclerosis Múltiple , Ataxia/genética , Canales de Calcio/genética , Humanos , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/genética
5.
Int J Neurosci ; 132(10): 999-1004, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33280477

RESUMEN

INTRODUCTION: Acute respiratory syndrome coronavirus-2 (Covid-19) can infect the respiratory system, as well as the central, peripheral nervous system, and muscles, leading to neurological symptoms and signs. The most common neurological symptoms are dizziness, headache, impaired consciousness, ataxia, hypogosis, hyposmia, neuralgia, and myalgia. The most common neurological diseases are acute cerebrovascular disease, epilepsy, acute hemorrhagic necrotizing encephalopathy, miyelitis, and Gullian-Barre syndrome. METHODS: In this case report, a patient infected with Covid-19 and diagnosed as neuromyelitis optica (NMO) with anamnesis, clinical and radiological findings is presented. RESULTS: A 50-year-old woman presented with weakness of both legs, urine retention, high fever, and cough. Spinal magnetic resonance imaging revealed expensive long-segment and centrally located demyelinating lesion extending from the cervical cord (at the level of C3) to the conus. Thoracic-computerized tomography revealed consolidation areas located on the lower segments of bilateral lungs and ground-glass density, air bronchograms, and peribronchial thickening surrounding these areas. Aquaporin-4 immune globulin-G was found to be positive. CONCLUSION: It was considered appropriate to present this case because of being the first case of parainfectious NMO considered to be induced by SARS-CoV-2.


Asunto(s)
COVID-19 , Neuromielitis Óptica , Acuaporina 4 , COVID-19/complicaciones , Femenino , Humanos , Inmunoglobulina G , Imagen por Resonancia Magnética , Persona de Mediana Edad , Neuromielitis Óptica/complicaciones , Neuromielitis Óptica/diagnóstico por imagen , SARS-CoV-2
6.
J Neurosci Nurs ; 50(5): 303-307, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30198958

RESUMEN

PURPOSE: This study examines the dyadic adjustment of married men and women with multiple sclerosis (MS). METHOD: This cross-sectional study consists of 40 patients with MS who were married and being followed in the neurology clinic of a university hospital. Data collection was performed by face-to-face interviews with only the participant and the researcher present. The participants filled in the Expanded Disability Status Scale, a sociodemographic form, and a dyadic adjustment scale. RESULTS: The study group was 75% male, with age ranging from 27 to 65 years (mean, 44.40 ± 9.31 years). Expanded Disability Status Scale scores ranged from 0 to 7 (mean, 3.25 ± 1.94); 95% of the subjects were having relapses and remissions. Scores for patients with MS who were not considering divorce were statistically significantly higher than patients with MS who were considering divorce for dyadic adjustment (z = 3.845, P = .000), common view (z = 2.336, P = .020), endearment (z = 2.701, P = .007), and total scores (z = 3.399, P = .001). CONCLUSION: Most of the patients with MS who participated in this study were diagnosed with relapsing-remitting MS with a mean Expanded Disability Status Scale score of 3, indicating that patients had the physical ability to perform routine activities. The total dyadic adjustment scale score (107.7) is above average, indicating that dyadic adjustment was at a good level.


Asunto(s)
Evaluación de la Discapacidad , Progresión de la Enfermedad , Esclerosis Múltiple Recurrente-Remitente/psicología , Esposos/estadística & datos numéricos , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Esposos/psicología
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