Postepy psychiatrii neurologii最新文献

Purpose: Schizophrenia is a chronic condition that is associated with various comorbidities, including metabolic ones. Particular attention has been paid to the metabolic dysfunction-associated steatotic liver disease (MASLD), the liver equivalent of the metabolic syndrome. It is postulated that ferroptosis, a form of novel cell death connected with iron overload and lipid peroxidation, may be an interplaying factor in both of these conditions. This review aims to show the specific role of ferroptosis in the development and possible progression of MASLD among patients with schizophrenia. It will be accompanied by a consideration of the probable causes of the associations that occur.

Views: Scientific reports suggest that there may be a genetic predisposition, in terms of ferroptosis, to the development of both schizophrenia and MASLD. Moreover, the role of poor dietary habits, specifically a high-fat diet and insufficient antioxidant intake, in excessive lipid peroxidation and iron overload is emphasized. Additionally, intestinal permeability, caused by iron overload, may contribute to a state of inflammation within the liver tissue. Finally, we cannot forget about the impact of antipsychotic drugs on the ferroptosis process - some of them may initiate this process through carbohydrate-lipid metabolism dysregulation, or causing hepatocyte iron overload, as well as disturbing cellular redox balance.

Conclusions: The process of ferroptosis should be considered as one of the possible pathways which predispose a group of patients with schizophrenia to the development and progression of MASLD. Finding a possible marker of ferroptosis among the mentally ill population may be helpful in the identification of a subgroup of patients particularly vulnerable to steatotic liver disease.

Purpose: While traditional theories suggest a link between language lateralization and handedness, recent evidence indicates more complex neural networks underlying speech processing. This study aimed to investigate the involvement of the left and right hemispheres in speech production using repetitive transcranial magnetic stimulation (rTMS).

Methods: A cohort of 58 healthy volunteers with a median age of 23 (range 19-34) were included in the study. With the use of the Edinburgh Handedness Inventory (EHI), 43 individuals were determined to be right-handed, 13 left-handed, 2 mix-handed and subsequently subdivided according to handedness decile values. rTMS was applied with 2Hz frequency and 2 seconds of duration over the left and right hemispheres to trigger speech arrest while counting downwards.

Results: Overall prevalence of speech arrest was 96.6%. Twenty-four subjects developed speech arrest after stimulation exclusively over the left hemisphere (42.9%), two people exclusively over the right hemisphere (3.5%) and 30 participants bilaterally (53.6%). Notably, the right-handed exhibited speech arrest predominantly over the left hemisphere, while the left-handed showed more variability. Receiver operating characteristics analysis revealed handedness deciles as predictors of speech lateralization. Individuals with handedness values over the 2nd right decile of EHI were more likely to have speech arrest over the left hemisphere, while left-handed over the 7th left decile were more likely to show speech arrest after rTMS over the right hemisphere.

Conclusions: This study highlights the complexity of the relationship between speech lateralization and handedness. Further research using rTMS may provide insights into the neural mechanisms underlying speech processing and enable further studies on the treatment of aphasia.

Purpose: Skeletal-related events (SREs) are common complications of bone metastases that include the need for radiation or surgery to bone, pathological and radiological fractures, and hypercalcemia. Available data indicate that significant bone pain is associated with SREs, leading to an increased risk of death, higher medication costs, and reduced quality of life for patients. Bisphosphonate agents and denosumab are therapeutic options for preventing SREs in advanced cancer patients with bone metastases. This study aims to compare the effect of denosumab and zoledronic acid in SREs, with a particular focus on pain-related SREs.

Views: Three scientific databases - PubMed, the Cochrane Library, and Google Scholar - were selected and searched for articles published in English up to March 2023. Also, a manual search of related articles was conducted. From the systematic search, four randomized clinical trial studies were identified and further assessed using the Cochrane Collaboration Risk of Bias Tool.

Conclusions: Denosumab was found to have outcomes that are not inferior to Zoledronic acid in delaying the first incidence of SREs, which include pathologic fracture, radiotherapy to bone, surgery to bone, or spinal cord compression. This review concludes that both therapies effectively reduce pain and prevent SREs in cancer patients at risk.

Purpose: Extracellular vesicles are the subject of many studies in various medical specialties. Their role in neurodegenerative diseases is increasing and they worth introducing in more detail.

Methods: This review was performed following an electronic search of the database PubMed/Medline and Web of Science for English-language articles between 2010 and 2024 in the fields of medicine, molecular biology, and biochemistry. Keywords searches included combinations of the following terms: "extracellular vesicles" OR "exosomes" AND "neurodeg*" AND "microRNA" OR "miRNA" AND "AD" OR "PD" OR "ALS" OR "HD". Articles had to be original work or reviews.

Results: The classification of extracellular vesicles is based on their size or origin. Their content is of key importance in communication between cells and can be treated as a physiological determinant of the normal or pathological condition of a body. The cargo transported in the extracellular space and over longer distances in various body fluids is diversified and may be nucleic acids (DNA, RNA, miRNA) as well as proteins and lipids, and, in the case of apoptotic bodies also a cell's organelles. Exosomes are the most thoroughly studied extracellular vesicles and the most often considered for therapeutic applications. Vesicles carrying biological substances in the body perform three basic functions: participation in a pathological mechanism, a biomarker role that also has diagnostic and prognostic functions, and a role in therapeutic activities. In the case of neurodegenerative diseases, it appears that extracellular vesicles can transport misfolded proteins, initiating pathological processes in previously normal cells.

Conclusions: The transport of various substances enclosed in vesicles seems to be very promising in therapeutic prospects in various diseases, and the possibility of their crossing the blood-brain barrier particularly indicates diseases of the central nervous system. Despite many years of research on extracellular vesicles in the context of neurodegenerative diseases, their practical use is currently limited to studies on animal and cellular models, and their practical application in clinical trials in neurodegenerative diseases is to date extremely rare.

Purpose: Stroke mimics (SMs) are conditions that present similarly to acute cerebrovascular accidents (CVA), potentially leading to diagnostic errors made by physicians or emergency medical teams (EMT). This study aimed to analyse the profile of patients transferred by EMT to the neurological emergency department (NED) with suspected CVA, and to assess the incidence and characteristics of SMs.

Methods: This retrospective study analyzed data from patients admitted to the NED with suspected CVA, transferred by EMT between August 1, 2021 and to January 31, 2022. Data collected included demographic and clinical information obtained both from NED and EMT records.

Results: During the study period, 281 patients with suspected CVA were admitted to the NED, of which 74 (26.3%) were diagnosed as SMs. The most common SMs were seizures (24.3%) and infections (14.9%). CVA occurrence was significantly associated with central facial palsy, speech disorders, pyramidal signs and arterial hypertension, but confusion and active cancer were more commonly linked to SMs diagnosis. Patients whose emergency medical cards were correctly completed were less likely to be diagnosed with SMs compared to those with at least one missing parameter (36% in the CVA group vs. 21% in the SMs group, p = 0.029).

Conclusions: Focal neurological signs are indicative of CVA, whereas confusion and a history of active cancer are more commonly associated with SMs. The accuracy and completeness of data collected by EMTs may play a crucial role in the CVA diagnostic process, potentially reducing misdiagnoses of SMs.

Purpose: The purpose of this review is to present current scientific reports on the pathophysiology, diagnosis and treatment of pantothenate kinase-associated neurodegeneration (PKAN).

Views: The condition is caused by a mutation in the PANK2 gene, which results in iron accumulation in the brain and changes in the functioning of biochemical pathways dependent on coenzyme A. There are two clinical types of PKAN, which differ in the time of onset of symptoms and speed of disease progression. Imaging studies, specifically magnetic resonance (MR), and genetic testing are commonly used in the diagnosis process. The characteristic radiological image seen in T2-MR images is the "eye of the tiger". Patients with PKAN can only receive treatment for symptoms because there are no effective treatment methods available. Pharmacological methods include symptomatic medications, such as pregabalin, gabapentin, or botulinum toxin, and disease-modifying agents, such as iron chelators. Surgical procedures or deep brain stimulation as alternative methods can also be considered. The review presents data from studies published between 2017 and 2024.

Conclusions: There are many studies on the pathophysiology and treatment methods for PKAN patients, but the results are still limited. The future of PKAN treatment will be characterized by personalized treatment that is based on the patient's genetic and environmental factors. Further investigation of these is necessary.

Purpose: Sarcoidosis, a multi-organ granulomatous disease, occasionally involves the nervous system, presenting as neurosarcoidosis. The following case demonstrates a potential association between COVID-19 and brain and spinal cord injury mimicking neurosarcoidosis.

Case description: A 51-year-old woman presented with persistent holocranial headache, nausea, vertigo, and neurological deficits one month after a COVID-19 hospitalization. Neurological examination revealed hemiparesis, dysphagia, and ataxia. Imaging showed lesions in the central nervous system. A diagnosis of neurosarcoidosis was considered, supported by clinical criteria, imaging findings, and elevated ACE levels. Steroid therapy led to symptom improvement.

Comment: This case underscores the broad range of the consequences of COVID-19 and challenges in diagnosing neurosarcoidosis, suggesting the need for further research in this area.

Purpose: This mini-review presents strategies for assessing and treating communication difficulties in individuals with comorbid attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Standardized assessments such as the Clinical Evaluation of Language Fundamentals and the Test of Language Development provide quantitative insights, while pragmatic tools, such as the Pragmatic Language Skills Inventory and the Social Communication Questionnaire provide qualitative measures of social communication skills. A comprehensive assessment also integrates clinical interviews, multi-contextual observations.

Views: A multifaceted approach tailored to individual needs is required to effectively treat communication difficulties. Evidence suggests benefits from social skills training, structured group therapy sessions, and speech and language therapy focusing on expressive, receptive, and pragmatic language skills. Augmentative and alternative communication systems provide support for individuals with limited verbal skills. In addition, the development of supportive academic frameworks, such as Individualized Education Programs or Individualized Accommodation Plans, involves environmental modifications and collaborative educational planning including psychologists, educators, and families.

Conclusions: Comorbid ADHD and ASD significantly impair communication, necessitating precise evaluation and multimodal interventions such as social skills training and augmentative and alternative communication tools. Collaborative, evidence-based approaches enhance functional outcomes and quality of life in affected individuals.

Purpose: This study explores the recovery process and its key components in patients diagnosed with schizophrenia, with a particular focus on the role of gratitude. The research aimed to determine whether gratitude can be confirmed as a positive factor in the recovery journey of women and men with schizophrenia.

Methods: The study involved 25 women and 25 men receiving care in day wards and a support center in Warsaw that provide specialized assistance and therapeutic interventions for schizophrenia patients.

Results: The findings indicate that gratitude is a positive component of the recovery process in women, but not in men. Additionally, notable differences were observed in the recovery trajectories of women and men.

Conclusions: The study offers practical implications, suggesting that understanding gratitude's role in recovery could inform the development of targeted therapeutic interventions. These interventions could potentially monitor and modify patients' levels of gratitude, thereby influencing their overall recovery progress.

Purpose: Muscular dystrophy is a group of heterogeneous diseases causing progressive muscle weakness and atrophy. Many types have been defined, including Duchenne/Becker, myotonic, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies. This study aims to present the first patient with both a homozygous CAPN3 mutation and a CCTG expansion in the CNBP gene, which suggests the co-occurrence of two diseases in a single patient.

Case description: Homozygous pathogenic variant c.550delA (p.Thr184ArgfsTer36) in the CAPN3 gene, as well as a heterozygous expansion of a CCTG repeat of the CNBP gene, were identified in a single patient. Segregation analysis showed both maternal and paternal heterozygous carriers for CAPN3 mutation, and a maternally inherited CNBP expansion.

Comment: In general, the co-occurrence of two diseases in a single patient is considered as uncommon, although possible, and therefore it should be taken into consideration in the populations with a relatively high prevalence of myotonic dystrophy type 2.