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1.
J Clin Ultrasound ; 2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38655708

RESUMO

PURPOSE: To examine the cerebro-placental-uterine ratio (CPUR) in pregnant women with pregestational diabetes and determine its role in predicting adverse prenatal outcomes. METHODS: This prospective, cohort study conducted at a tertiary hospital included 65 patients with pregestational diabetes (25 with type1 diabetes, 40 with type2 diabetes) and 130 low-risk patients in the control group. The cerebroplacental (CPR) ratio and the CPUR were calculated. Composite adverse perinatal outcome (CAPO) is defined as the presence of any of the following: (1) Neonatal intensive care unit (NICU) admission, (2) Apgar at 5 min <7, and (3) umbilical cord arterial pH <7.10. The relationship of CPR and CPUR with CAPO was investigated. RESULTS: CPR and CPUR were significantly lower in the pregestational diabetes group than in the control group. The NICU admission was higher in the case group. In receiver operating characteristic analyses, the optimal cut-off value of CPUR was 1.46 (AUC = 0.72, p = 0.003, 80% sensitivity, and 69% specificity) to predict CAPO and the optimal cut-off value of CPUR was 1.50 for NICU admission (AUC = 0.70, p = 0.013, 77% sensitivity, and 66% specificity). CONCLUSION: Low CPUR values were found to be associated with adverse perinatal outcomes in women with pregestational diabetes. With the increasing number of studies, CPUR is expected to be utilized more widely in routine obstetric practice.

2.
Reumatol Clin (Engl Ed) ; 20(4): 175-180, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38644028

RESUMO

AIM OF THE WORK: To evaluate serum brain-derived neurotrophic factor (BDNF) in Egyptian patients with rheumatoid arthritis (RA) and its relation with cognitive dysfunction. PATIENTS AND METHODS: The study was carried out on 60 RA patients; 30 were active (group A) and 30 were non active (group B); and 30 controls (group C). RA disease activity was assessed via DAS28 tool, cognitive function via The Montreal Cognitive Assessment and depression via the PHQ depression scale. Serum BDNF levels were measured. RESULTS: The mean age in group A was 37.8 (±9.37) years with 83.3% females, in group B was 39.97 (±8.04) years with 86.7% females and in group C was 33.17 (±3.6) years with 93.3% females. Abnormal cognitive functions test was detected in 66.7% of group A, 66.7% of group B, and in 23.3% of group C. There was a statistically significant difference in BDNF serum level between both groups of patients (1.58±0.9ng/ml for group A, 1.81±1.17ng/ml for group B) compared with the control group (3.01±1.25ng/ml, p<0.001). There was no statistically significant difference between BDNF and both disease duration and cognitive function, also no statistically significant difference regarding cognitive function, depression, and BNDF levels in patients with and without fibromyalgia. At a cut-off value of <2ng/ml, BDNF detected RA patients with cognitive dysfunction with a sensitivity of 80%, specificity of 96.67%. CONCLUSION: BDNF can be a potential biomarker of cognitive dysfunction in RA patients.


Assuntos
Artrite Reumatoide , Fator Neurotrófico Derivado do Encéfalo , Disfunção Cognitiva , Depressão , Humanos , Fator Neurotrófico Derivado do Encéfalo/sangue , Artrite Reumatoide/sangue , Artrite Reumatoide/complicações , Feminino , Masculino , Egito , Disfunção Cognitiva/sangue , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/diagnóstico , Adulto , Depressão/sangue , Depressão/etiologia , Pessoa de Meia-Idade , Estudos de Casos e Controles , Biomarcadores/sangue , Estudos Transversais
3.
Cureus ; 16(3): e56330, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38628993

RESUMO

A male in his 60s with stroke risk factors presented with confusion and word-finding difficulties. He was diagnosed with acute ischemic stroke in the right basal ganglia. He was started on secondary stroke prevention measures including dual antiplatelet therapy and a high-dose statin. A highly reactive rapid plasma reagin (RPR) was performed as part of the workup and found to be positive. Follow-up fluorescent treponemal antibody absorption (TPA) test was also positive, confirming a diagnosis of syphilis. He was discharged home with a scheduled course of antibiotic treatment for tertiary syphilis but returned due to a new episode of transient facial paralysis. Further workup and physical exam findings revealed the patient had neurosyphilis. He was started on the appropriate antibiotic therapy, which significantly improved his confusion and prevented new episodes of stroke.

4.
Reumatol. clín. (Barc.) ; 20(4): 175-180, Abr. 2024. graf, tab
Artigo em Inglês | IBECS | ID: ibc-232369

RESUMO

Aim of the work: To evaluate serum brain-derived neurotrophic factor (BDNF) in Egyptian patients with rheumatoid arthritis (RA) and its relation with cognitive dysfunction. Patients and methods: The study was carried out on 60 RA patients; 30 were active (group A) and 30 were non active (group B); and 30 controls (group C). RA disease activity was assessed via DAS28 tool, cognitive function via The Montreal Cognitive Assessment and depression via the PHQ depression scale. Serum BDNF levels were measured. Results: The mean age in group A was 37.8 (±9.37) years with 83.3% females, in group B was 39.97 (±8.04) years with 86.7% females and in group C was 33.17 (±3.6) years with 93.3% females. Abnormal cognitive functions test was detected in 66.7% of group A, 66.7% of group B, and in 23.3% of group C. There was a statistically significant difference in BDNF serum level between both groups of patients (1.58±0.9ng/ml for group A, 1.81±1.17ng/ml for group B) compared with the control group (3.01±1.25ng/ml, p<0.001). There was no statistically significant difference between BDNF and both disease duration and cognitive function, also no statistically significant difference regarding cognitive function, depression, and BNDF levels in patients with and without fibromyalgia. At a cut-off value of <2ng/ml, BDNF detected RA patients with cognitive dysfunction with a sensitivity of 80%, specificity of 96.67%. Conclusion: BDNF can be a potential biomarker of cognitive dysfunction in RA patients.(AU)


Objetivo: Evaluar el factor neurotrófico derivado del cerebro (BDNF) en suero en pacientes egipcios con artritis reumatoide (AR) y su relación con la disfunción cognitiva. Pacientes y métodos: El estudio se realizó en 60 pacientes con AR; 30 eran activos (grupo A) y 30 no activos (grupo B); y 30 controles (grupo C). La actividad de la enfermedad de AR se evaluó a través de la herramienta DAS28, la función cognitiva a través de la Evaluación Cognitiva de Montreal y la depresión a través de la escala de depresión PHQ. Se midieron los niveles de BDNF en suero. Resultados: La edad media en el grupo A fue de 37,8 (±9,37) años con 83,3% de mujeres, en el grupo B de 39,97 (±8,04) años con 86,7% de mujeres y en el grupo C de 33,17 (±3,6) años con 93,3% de mujeres. La prueba de funciones cognitivas anormales se detectó en 66,7% del grupo A, 66,7% del grupo B y 23,3% del grupo C. Hubo una diferencia estadísticamente significativa en el nivel sérico de BDNF entre ambos grupos de pacientes (1,58±0,9ng/mL para grupo A, 1,81±1,17ng/mL para el grupo B) en comparación con el grupo control (3,01±1,25ng/mL, p<0,001). No hubo diferencias estadísticamente significativas entre el BDNF y la duración de la enfermedad y la función cognitiva, tampoco hubo diferencias estadísticamente significativas con respecto a la función cognitiva, la depresión y los niveles de BDNF en pacientes con y sin fibromialgia. A un valor de corte de <2ng/mL, BDNF detectó pacientes con AR con disfunción cognitiva con una sensibilidad de 80% y una especificidad de 96,67%. Conclusión: BDNF puede ser un biomarcador potencial de disfunción cognitiva en pacientes con AR.(AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Artrite Reumatoide/diagnóstico , Disfunção Cognitiva , Fatores de Crescimento Neural , Fibromialgia , Reumatologia , Doenças Reumáticas , Egito
5.
Artigo em Inglês | MEDLINE | ID: mdl-38493062

RESUMO

Temperature management has been used in patients with acute brain injury resulting from different conditions, such as post-cardiac arrest hypoxic-ischaemic insult, acute ischaemic stroke, and severe traumatic brain injury. However, current evidence offers inconsistent and often contradictory results regarding the clinical benefit of this therapeutic strategy on mortality and functional outcomes. Current guidelines have focused mainly on active prevention and treatment of fever, while therapeutic hypothermia (TH) has fallen into disuse, although doubts persist as to its effectiveness according to the method of application and appropriate patient selection. This narrative review presents the most relevant clinical evidence on the effects of TH in patients with acute neurological damage, and the pathophysiological concepts supporting its use.

7.
Front Psychiatry ; 15: 1304300, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38352654

RESUMO

Autism spectrum disorders represent a diverse etiological spectrum that converge on a syndrome characterized by discrepant deficits in developmental domains often highlighted by concerns in socialization, sensory integration, and autonomic functioning. Importantly, the incidence and prevalence of autism spectrum disorders have seen sharp increases since the syndrome was first described in the 1940s. The wide etiological spectrum and rising number of individuals being diagnosed with the condition lend urgency to capturing a more nuanced understanding of the pathogenic mechanisms underlying the autism spectrum disorders. The current review seeks to understand how the disruption of AMPA receptor (AMPAr)-mediated neurotransmission in the cerebro-cerebellar circuit, particularly in genetic autism related to SHANK3 or SYNGAP1 protein dysfunction function and autism associated with in utero exposure to the anti-seizure medications valproic acid and topiramate, may contribute to the disease presentation. Initially, a discussion contextualizing AMPAr signaling in the cerebro-cerebellar circuitry and microstructural circuit considerations is offered. Subsequently, a detailed review of the literature implicating mutations or deletions of SHANK3 and SYNGAP1 in disrupted AMPAr signaling reveals how bidirectional pathogenic modulation of this key circuit may contribute to autism. Finally, how pharmacological exposure may interact with this pathway, via increased risk of autism diagnosis with valproic acid and topiramate exposure and potential treatment of autism using AMPAr modulator perampanel, is discussed. Through the lens of the review, we will offer speculation on how neuromodulation may be used as a rational adjunct to therapy. Together, the present review seeks to synthesize the disparate considerations of circuit understanding, genetic etiology, and pharmacological modulation to understand the mechanistic interaction of this important and complex disorder.

8.
Enferm. clín. (Ed. impr.) ; 34(1): 56-60, Ene-Feb, 2024. tab
Artigo em Espanhol | IBECS | ID: ibc-229657

RESUMO

Objetivo: Muchos adultos mayores en Indonesia deciden vivir en residencias de ancianos. Vivir en un hogar de ancianos ha sido asociado al deterioro cognitivo en adultos mayores, afectando a la capacidad para llevar a cabo actividades de la vida diaria. Este estudio tuvo como objetivo determinar la asociación entre características demográficas y clínicas y la función cognitiva en adultos mayores que viven una residencia de ancianos en Indonesia. Método: Este estudio utilizó un diseño transversal, participando 60 adultos mayores de una residencia de ancianos. La función cognitiva se evaluó utilizando el instrumento Montreal Cognitive Assessment. Se evaluaron características demográficas y clínicas como edad, nivel educativo, tiempo de permanencia en la residencia, así como niveles séricos de factor neurotrófico derivado del cerebro y dopamina. Se utilizó la prueba de Spearman-rank para el análisis de datos. Resultados: La función cognitiva de atención se correlacionó positivamente con la edad (r=0,314, p=0,015) y el tiempo de permanencia en la residencia (r=0,268, p=0,038), y negativamente con los niveles séricos de dopamina (r=–0,425, p=0,001). La función cognitiva de denominación se relacionó positivamente con la edad (r=0,263, p=0,042). Conclusiones: Edad, tiempo de internado y niveles de dopamina se asociaron a la función cognitiva en adultos mayores que viven en una residencia de ancianos. El adulto mayor debe ser evaluado en cuanto a factores asociados a la función cognitiva, para realizar los programas de mejora cognitiva en residencias de ancianos.(UA)


Objective: Many older adults in Indonesia decide to live in nursing homes. Living in a nursing home has been associated with the incidence of cognitive decline in older adult that leads to decreasing ability to perform daily activity. This study aimed to determine the association between demographic and clinical characteristics with cognitive functions in older adults living in nursing homes in Indonesia. Methods: This study used a cross-sectional design and involved 60 older adults in a nursing home. Cognitive function was evaluated using the Montreal Cognitive Assessment instrument. Demographic and clinical characteristics such as age, education level, length of stay in the nursing home, as well as serum levels of brain-derived neurotrophic factor and dopamine were studied. Spearman-Rank test was used for data analysis. Results: Cognitive function of attention had a positive correlation with age (r=0.314, p=0.015), length of stay in the nursing home (r=0.268, p=0.038), and negative correlation with dopamine serum levels (r=-0.425, p=0.001). The cognitive function of naming has a positive correlation with age (r=0.263, p=0.042). Conclusions: Age, length of stay, and dopamine levels associated with cognitive function in older adult living in nursing homes. The older adult should be assessed in term of factors associated with cognitive function to make the cognitive improvement programs in nursing homes.(AU)


Assuntos
Humanos , Masculino , Feminino , Idoso , Instituição de Longa Permanência para Idosos , Cognição , Disfunção Cognitiva , Saúde do Idoso , Dopamina , Fator Neurotrófico Derivado do Encéfalo , Saúde do Idoso Institucionalizado , Saúde Mental , Indonésia , Estudos Transversais
9.
Cureus ; 16(1): e51789, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38322071

RESUMO

Central cord syndrome (CCS) predominantly manifests in elderly individuals with pre-existing cervical spondylosis resulting from hyperextension mechanisms. However, it is not exclusive to the older population and can occur in younger individuals following traumatic cervical spine injuries or, less frequently, due to nontraumatic causes. The impact of this syndrome is more pronounced in the upper extremities, where motor function experiences greater impairment compared to sensory function. CCS presents itself along a spectrum of severity. At one end, individuals may exhibit weakness confined to the hands and forearms while preserving sensory function. At the other extreme, complete quadriparesis may occur, albeit with sacral sparing being the sole indication of an incomplete spinal cord injury. This spectrum underscores the varied and nuanced clinical presentations within CCS. Moreover, concurrent acute stroke presentations can mimic CCS symptoms, further complicating the diagnostic process. The challenge lies in differentiating these two distinct conditions, particularly in an elderly population with overlapping risk factors. This diagnostic challenge adds a layer of complexity to clinical decision-making and underscores the importance of comprehensive evaluations in patients presenting with neurological symptoms. This case report presents a 73-year-old gentleman with a history of a recent stroke and motor vehicle accidents, highlighting the diagnostic challenges and multidisciplinary management required for concurrent CCS and stroke mimicry. This report is unique, as there are no existing case report publications detailing concurrent CCS and stroke. It emphasizes the necessity for a comprehensive diagnostic approach and coordinated care in managing such intricate cases.

10.
Cureus ; 16(1): e51548, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38313913

RESUMO

Background and purpose Cerebral haemodynamics and cognitive performance may be adversely affected in type 2 diabetes mellitus (T2DM). Previous studies reported reduced cerebral blood flow (CBF) and altered cerebrovascular reactivity (CVR) in T2DM. Yoga, an ancient holistic health approach, is known to be beneficial for T2DM. We hypothesized that yoga practice may alter CBF and the flow resistance in the middle cerebral artery (MCA) and improve cognition in T2DM. Our secondary objective was to explore the relationship between changes in cerebral haemodynamics and cognition in T2DM. Materials and methods Participants were randomly allotted into the yoga and control groups based on the eligibility criteria. One hour of yoga intervention specific to type 2 diabetes was provided to the yoga group for three months, while conventional treatment was provided to the control group. A transcranial Doppler was used to evaluate longitudinal changes in cerebral haemodynamics in MCA. A Corsi block tapping test was used to assess visio-spatial working memory. Results There were 75 participants recruited, of whom 38 participated in yoga and 37 participated in a control group. Both intention to treat and per protocol analysis showed significant results. At day 90, intention-to-treat analysis showed significant changes in CBF velocities (mean difference -10.85%, 95% CI (-13.26, -6.15), p<0.001), cerebral vasodilatory reserve (mean difference -0.23%, 95% CI (-0.43, -0.03), p=0.02) and cognition (mean difference -12.13%, 95% CI (-17.48, -6.78), p≤0.001). There was no between-group effect. Also, the correlation between the CBF and cognition did not show any significant results. Conclusion The three-month yoga intervention was associated with an improvement in cerebral hemodynamics. The study also revealed an improvement in visio-spatial working memory among patients with T2DM. The study did not show any correlation between the improvement in cerebral haemodynamics and working memory. We recommend larger and longer studies on yoga intervention for T2DM patients to evaluate whether such benefits are sustained and improve their quality of life.

11.
Neurol Neurochir Pol ; 58(1): 47-53, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38393959

RESUMO

AIM OF THE STUDY: Neuronal pentraxin-2 (NPTX2) is a synaptic protein responsible for modulating plasticity at excitatory synapses. While the role of NPTX2 as a novel synaptic biomarker in cognitive disorders has been elucidated recently, its role in idiopathic normal pressure hydrocephalus (iNPH) is not yet understood. CLINICAL RATIONALE FOR STUDY: To determine if NPTX2 predicts cognition in patients with iNPH, and whether it could serve as a predictive marker for shunt outcomes. MATERIAL AND METHODS: 354 iNPH patients underwent cerebrospinal fluid drainage (CSF) as part of the tap test or extended lumbar drainage. Demographic and clinical measures including age, Evans Index (EI), Montreal Cognitive Assessment (MoCA) score, Functional Activities Questionnaire (FAQ) score, and baseline and post-shunt surgery Timed Up and Go (TUG) test scores were ascertained. CSF NPTX2 concentrations were measured using an ELISA. CSF ß-amyloid 1-40 (Aß1-40), ß-amyloid 1-42 (Aß1-42), and phosphorylated tau-181 (pTau-181) were measured by chemiluminescent assays. Spearman's correlation was used to determine the correlation between CSF NPTX2 concentrations and age, EI, MoCA and FAQ, TUG, Aß1-40/Aß1-42 ratio, and pTau-181 concentrations. Logistic regression was used to determine if CSF NPTX2 values were a predictor of short-term improvement post-CSF drainage or long-term improvement post-shunt surgery. RESULTS: There were 225 males and 129 females with a mean age of 77.7 years (± 7.06). Average CSF NPTX2 level in all iNPH patients was 559.97 pg/mL (± 432.87). CSF NPTX2 level in those selected for shunt surgery was 505.61 pg/mL (± 322.38). NPTX2 showed modest correlations with pTau-181 (r = 0.44, p < 0.001) with a trend for Aß42/Aß40 ratio (r = -0.1, p = 0.053). NPTX2 concentrations did not correlate with age (r = -0.012, p = 0.83) or MoCA score (r = 0.001, p = 0.87), but correlated negatively with FAQ (r = -0.15, p = 0.019). CONCLUSIONS: While CSF NPTX2 values correlate with neurodegeneration, they do not correlate with cognitive or functional measures in iNPH. CSF NPTX2 cannot serve as a predictor of either short-term or long-term improvement after CSF drainage. CLINICAL IMPLICATIONS: These results suggest that synaptic degeneration is not a core feature of iNPH pathophysiology.


Assuntos
Proteína C-Reativa , Hidrocefalia de Pressão Normal , Proteínas do Tecido Nervoso , Masculino , Feminino , Humanos , Idoso , Hidrocefalia de Pressão Normal/cirurgia , Hidrocefalia de Pressão Normal/líquido cefalorraquidiano , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Proteínas tau/líquido cefalorraquidiano , Biomarcadores/líquido cefalorraquidiano , Cognição
12.
DNA Repair (Amst) ; 136: 103633, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38422792

RESUMO

Inherited photosensitivity syndromes are a heterogeneous group of genetic skin disorders with tremendous phenotypic variability, characterized by photosensitivity and defective DNA repair, especially nucleotide excision repair. A cohort of 17 Iranian families with heritable photosensitivity syndromes was evaluated to identify their genetic defect. The patients' DNA was analyzed with either whole-exome sequencing or RNA sequencing (RNA-Seq). The interpretations of the genomic results were guided by genome-wide homozygosity mapping. Haplotype analysis was performed for cases with recurrent mutations. RNA-Seq, in addition to mutation detection, was also utilized to confirm the pathogenicity. Thirteen sequence variants, including six previously unreported pathogenic variants, were disclosed in 17 Iranian families, with XPC as the most common mutated gene in 10 families (59%). In one patient, RNA-Seq, as a first-tier diagnostic approach, revealed a non-canonical homozygous germline variant: XPC:c.413-9 T > A. The Sashimi plot showed skipping of exon 4 with dramatic XPC down-expression. Haplotype analysis of XPC:c.2251-1 G>C and XPC:1243 C>T in four families showed common haplotypes of 1.7 Mb and 2.6 Mb, respectively, denoting a founder effect. Lastly, two extremely rare cases were presented in this report: a homozygous UVSSA:c .1990 C>T was disclosed, and ERCC2-related cerebro-oculo-facio-skeletal (COFS) syndrome with an early childhood death. A direct comparison of our data with the results of previously reported cohorts demonstrates the international mutation landscape of DNA repair-related photosensitivity disorders, although population-specific differences were observed.


Assuntos
Transtornos de Fotossensibilidade , Xeroderma Pigmentoso , Humanos , Pré-Escolar , Consanguinidade , Xeroderma Pigmentoso/genética , Família Estendida , Irã (Geográfico) , Proteínas de Ligação a DNA/genética , Mutação , Reparo do DNA , Transtornos de Fotossensibilidade/genética , Proteína Grupo D do Xeroderma Pigmentoso , Proteínas de Transporte
13.
Enferm Clin (Engl Ed) ; 34(1): 56-60, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38185372

RESUMO

OBJECTIVE: Many older adults in Indonesia decide to live in nursing homes. Living in a nursing home has been associated with the incidence of cognitive decline in older adult that leads to decreasing ability to perform daily activity. This study aimed to determine the association between demographic and clinical characteristics with cognitive functions in older adults living in nursing homes in Indonesia. METHODS: This study used a cross-sectional design and involved 60 older adults in a nursing home. Cognitive function was evaluated using the Montreal Cognitive Assessment (MoCA) instrument. Demographic and clinical characteristics such as age, education level, length of stay in the nursing home, as well as serum levels of brain-derived neurotrophic factor (BDNF) and dopamine were studied. Spearman-Rank test was used for data analysis. RESULTS: Cognitive function of attention had a positive correlation with age (r=0.314, P=.015), length of stay in the nursing home (r=0.268, P=.038), and negative correlation with dopamine serum levels (r=-0.425, P=.001). The cognitive function of naming has a positive correlation with age (r=0.263, P=.042). CONCLUSIONS: Age, length of stay, and dopamine levels associated with cognitive function in older adult living in nursing homes. The older adult should be assessed in term of factors associated with cognitive function to make the cognitive improvement programs in nursing homes.


Assuntos
Dopamina , Casas de Saúde , Humanos , Idoso , Indonésia , Estudos Transversais , Cognição
14.
Intern Med ; 63(5): 635-638, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37380451

RESUMO

Since it is widely accepted that there is a positive correlation between the salt intake and hypertension or cerebro-cardiovascular-renal events, salt intake restriction is currently widely recommended, especially in patients with hypertension. However, salt intake restriction does not always have beneficial effects. Indeed, an excessively low salt intake has been reported to be harmful to health. While a reasonable vegetable and fruit intake reportedly decreases blood pressure, whether or not vegetable and fruit intake truly leads to reductions in cerebro-cardiovascular-renal events or all-cause mortality remains unclear. We reviewed the importance of vegetable and fruit intake for health, focusing on the relationship between urinary potassium excretion, a marker of vegetable and fruit intake, and cerebro-cardiovascular-renal events or all-cause mortality. In conclusion, vegetable and fruit intake may be essential for reducing cerebro-cardiovascular-renal events and all-cause mortality.


Assuntos
Hipertensão , Verduras , Humanos , Frutas , Potássio , Cloreto de Sódio na Dieta , Dieta
15.
FEBS J ; 291(2): 272-291, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37584444

RESUMO

Although gene splicing occurs throughout the body, the phenotype of spliceosomal defects is largely limited to specific tissues. Cerebro-costo-mandibular syndrome (CCMS) is one such spliceosomal disease, which presents as congenital skeletal dysmorphism and is caused by mutations of SNRPB gene encoding Small Nuclear Ribonucleoprotein Polypeptides B/B' (SmB/B'). This study employed in vitro cell cultures to monitor osteo- and chondro-differentiation and examined the role of SmB/B' in the differentiation process. We found that low levels of SmB/B' by knockdown or mutations of SNRPB led to suppressed osteodifferentiation in Saos-2 osteoprogenitor-like cells, which was accompanied by affected splicing of Dlx5. On the other hand, low SmB/B' led to promoted chondrogenesis in HEPM mesenchymal stem cells. Consistent with other reports, osteogenesis was promoted by the Wnt/ß-catenin pathway activator and suppressed by Wnt and BMP blockers, whereas chondrogenesis was promoted by Wnt inhibitors. Suppressed osteogenic markers by SNRPB knockdown were partly rescued by Wnt/ß-catenin pathway activation. Reporter analysis revealed that suppression of SNRPB results in attenuated Wnt pathway and/or enhanced BMP pathway activities. SNRPB knockdown altered splicing of TCF7L2 which impacts Wnt/ß-catenin pathway activities. This work helps unravel the mechanism underlying CCMS whereby reduced expression of spliceosomal proteins causes skeletal phenotypes.


Assuntos
Deficiência Intelectual , Micrognatismo , Costelas/anormalidades , Spliceossomos , beta Catenina , beta Catenina/genética , Diferenciação Celular/genética , Spliceossomos/genética , Proteínas Centrais de snRNP/genética , Osteogênese/genética , Via de Sinalização Wnt/genética , Células Cultivadas
16.
J Med Life ; 16(9): 1433-1435, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38107719

RESUMO

Approximately two-thirds of the Guillain-Barré syndrome (GBS) cases are preceded by upper respiratory tract infection or enteritis. There has been previous documentation of a clear association between Covid-19 and GBS. Covid-19 can affect the nervous tissue either through direct damage or through triggering a host immune response with subsequent development of autoimmune diseases such as GBS. Covid-19 can affect the host`s immune system through the activation and interaction of the T-and B-lymphocytes with subsequent production of antibodies that cross-react with the gangliosides. Depending on the nature of the neuronal autoimmune destruction, the affected individual may have either a demyelinating or axonal subtype of GBS. These subtypes differ not only in symptoms but also in the likelihood of recovery. This report presents two cases of GBS that developed after the respiratory symptoms of Covid-19. Their neurological features indicated demyelination, axonal damage, irritation of spinal nerve roots, and impaired sensory and motor transmission with additional facial nerve palsy in the second-studied case. This case report highlights the relationship between GBS and Covid-19 infection.


Assuntos
COVID-19 , Síndrome de Guillain-Barré , Humanos , Síndrome de Guillain-Barré/etiologia , Síndrome de Guillain-Barré/diagnóstico , COVID-19/complicações , Pesquisa
18.
Cureus ; 15(10): e48034, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38034217

RESUMO

Stroke remains one of the world's greatest causes of disability and death. Insulin resistance (IR) impairs insulin's beneficial effects on the brain and can change the course of illness in post-stroke patients. This review aims to find sufficient evidence to support the causal association of IR in ischemic stroke and with post-stroke prognosis (PSP). The review will also list probable mechanisms to better understand how IR affects stroke pathology. Various articles from PubMed Central, MEDLINE, and PubMed databases were reviewed, and then after careful consideration, 17 articles were selected. The studies, using various genetic and metabolic markers, have linked IR to increased incidence of ischemic stroke. Among the various types of strokes investigated from this standpoint, silent lacunar infarct stands out as a widely researched subtype. Even though the exact pathogenesis is still unclear, current evidence shows an interplay of atherosclerosis, embolism, and platelet dysfunction. The development of early neurological decline (END) in post-stroke patients has been used to link IR to poor PSP. It is also acknowledged to have contributed in some way to poor three-month outcomes. Modifying inflammatory pathways and developing glucotoxicity are some of the pathways by which IR affects PSP. After reviewing the studies, significant evidence was found to support the role of IR in causing ischemic stroke as well as in poor PSP. Additional investigation is required to assess its influence on three-month prognosis and its significance in various stroke subcategories.

19.
Front Cardiovasc Med ; 10: 1288109, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38034378

RESUMO

Introduction: Cardiovascular parameters characterizing blood pressure (BP), heart rate (HR), endothelial function and arterial stiffness predict cerebro-cardiovascular events (CCVE) in the general population. Considering the paucity of data in stroke patients, we assessed these parameters as potential predictors of recurrent CCVE at acute stroke stroke. Patients and methods: This is a secondary outcome analysis of a prospective observational longitudinal Sleep Deficiency & Stroke Outcome Study (ClinicalTrials.gov Identifier: NCT02559739). The study consecutively recruited acute ischemic stroke patients. Cardiovascular parameters (blood pressure variability [BPV], heart rate variability [HRV], endothelial function, and arterial stiffness) were assessed within the first week post-stroke. Future CCVE were recorded over a 3-year follow-up. Multivariate Cox regression analysis was used to investigate the prognostic value of 48 cardiovascular parameters regarding CCVE risk. Results: Out of 447 recruited patients, 359 were included in this analysis. 20% of patients developed a future CCVE. A high variability of systolic BP (n = 333) and nocturnal HR (non-linear parameters; n = 187) at acute stroke predicted CCVE risk after adjustment for demographic parameters, cardiovascular risk factors and mean BP or HR, respectively. Endothelial dysfunction (n = 105) at acute stroke predicted CCVE risk after adjustment for age and sex, but not after adjustment for cardiovascular risk factors. Diurnal HR and arterial stiffness at acute stroke were not associated with CCVE risk. Conclusion: High blood pressure variability, high nocturnal HRV and endothelial function contribute to the risk for future CCVE after stroke.

20.
Front Neurol ; 14: 1268131, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37840935

RESUMO

Background and aim: Paraneoplastic coagulopathy can present as stroke and is associated with specific biomarker changes. Identifying paraneoplastic coagulopathy can help guide secondary prevention in stroke patients, and early cancer detection might improve outcomes. However, unlike ischemic stroke, it remains unclear whether paraneoplastic coagulopathy is associated with transient ischemic attacks (TIA). This study assessed the presence of cancer-related biomarkers in TIA patients and evaluated long-term mortality rates in patients with and without active cancer. Methods: Active cancer was retrospectively identified in consecutive TIA patients treated at a comprehensive stroke center between 2015 and 2019. An association between the presence of cancer and cancer-related biomarkers was assessed using multivariable logistic regression. Long-term mortality after TIA was analyzed using multivariable Cox regression. Results: Among 1436 TIA patients, 72 had active cancer (5%), of which 17 were occult (1.2%). Cancer-related TIA was associated with male gender (adjusted odds ratio [aOR] 2.29, 95% CI 1.12-4.68), history of smoking (aOR 2.77, 95% CI 1.34-5.7), elevated D-dimer (aOR 1.77, 95% CI 1.26-2.49), lactate dehydrogenase (aOR 1.003, 95% CI 1.00-1.005), lower leukocyte count (aOR 1.20, 95% CI 1.04-1.38), and lower hemoglobin (aOR 1.02, 95% CI 1.00-1.04). Long-term mortality was associated with both active cancer (adjusted hazard ratios [aHR] 2.47, 95% CI 1.58-3.88) and occult cancer (aHR 3.08, 95% CI 1.30-7.32). Conclusion: Cancer-related TIA is not uncommon. Biomarkers known to be associated with cancer-related stroke also seem to be present in TIA patients. Early identification would enable targeted treatment strategies and could improve outcomes in this patient population.

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