bluuebunny/crossref_metadata_2025_split huggingface dataset:
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
Authors: Liu Wenwei , Gao Kai , Du Xilong , Wen Sijia , Yan Huifang , Wang Jingmin , Wang Yong , Song Conglei , Lin Li , Ji Taoyun , Gu Weiyue , Jiang Yuwu 
Published: December 2024

Abstract
Background
Developmental and epileptic encephalopathy (DEE) is a group of neurodevelopmental disorders characterized by early-onset seizures predominantly attributed to genetic causes. Nevertheless, numerous patients remain without identification of a genetic cause.

Methods
We present four unrelated Chinese patients with SPOUT1 compound heterozygous variants, all of whom were diagnosed with DEE. We also investigated functions of SPOUT1 using the spout1 knockout zebrafish model.

Results
The four unrelated DEE patients with SPOUT1 compound heterozygous variants were all males. Their onset age of seizure ranged from 3 months to 6 months (median age 5 months). All patients had epileptic spasms, and were diagnosed with infantile epileptic spasms syndrome (IESS). Three patients had microcephaly during infancy. Brain MRI in three patients showed white matter hypomyelination and bilaterally widened frontotemporal subarachnoid space. At the last follow-up, two patients exhibited drug-resistant epilepsy, one achieved seizure freedom following vigabatrin treatment, and one died at the age of 4 years and 5 months from probable sudden unexpected death in epilepsy. Seven different SPOUT1 variants were identified in the four patients, including six missense variants and one deletion variant. AlphaFold2 prediction indicated that all variants alternated the number or the length of bonds between animo acids in protein SPOUT1. Neurophysiological results from spout1 knockout zebrafish revealed the presence of epileptiform signals in 9 out of 63 spout1 knockout zebrafishes (P = 0.009). Transcriptome sequencing revealed 21 differentially expressed genes between spout1 knockout and control groups, including 13 up-regulated and 8 down-regulated genes. Two axonal transport-related genes, kif3a and ap3d1, were most prominently involved in enriched Gene Ontology (GO) terms.

Conclusions
This study identified SPOUT1 as a novel candidate gene of DEE, which follows the autosomal-recessive inheritance pattern. IESS is the most common epilepsy syndrome. Downregulation of axonal transport-related genes, KIF3A and AP3D1, may play a crucial role in the pathogenesis of DEE.
COVID-19 in the Central Nervous System - clinical manifestations and post-COVID syndrome - an update
Authors: Śmigiel Aleksandra , Mularczyk Zuzanna , Oleksy Piotr , Reclik Magdalena , Góralczyk Ewa , Rzepka Michalina , Siuda Joanna 
Published: December 2024

Introduction: The COVID-19 pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), represents a significant global public health challenge. While respiratory symptoms dominate, the virus's impact on other systems, particularly the central nervous system (CNS), has gained increasing attention. SARS-CoV-2 demonstrates tropism for Angiotensin-Converting Enzyme 2 (ACE2) receptors, expressed in the olfactory epithelium, lungs, endothelium, kidneys, enterocytes, and neurons, contributing to neurological manifestations observed during the acute phase of the disease.
Materials and Methods: A literature review was conducted using PubMed, Scopus, Web of Science, and ScienceDirect databases. Keywords included: COVID-19, Post Acute COVID-19 Syndrome, SARS-CoV-2 Virus, Neurological Manifestations, and Central Nervous System Viral Diseases. A total of 58 articles were selected for analysis based on relevance and quality of evidence regarding neurological symptoms and complications associated with COVID-19.
Basic Results: The acute phase of COVID-19 frequently involves neurological symptoms such as frontal and holocranial headaches, dizziness, gustatory and olfactory dysfunctions, and alterations in consciousness. Severe complications, though less common, include encephalitis, ischemic and hemorrhagic stroke, cerebral venous thrombosis, and myelitis. These conditions often present as altered mental status, seizures, aphasia, headaches, or focal deficits, contributing substantially to patient morbidity and mortality.
Conclusions: Neurological symptoms and complications constitute a significant aspect of COVID-19, highlighting the virus's potential to affect the CNS. While severe complications are rare, their profound impact on prognosis underscores the importance of early recognition and management. Further research is essential to understand the pathophysiology and optimise therapeutic approaches for affected patients.
Sarcoidosis: Pathogenesis, Diagnosis, and Clinical Management
Authors: Kuliga Marcin , Mateusz Bajak  , Dominik Maciej Feret  , Jadwiga Inglot  , Julia Inglot  , Maciej Mamczur  , Julia Słowik  , Damian Sowa  , Michał Szczepański  , Daniel Zapasek  
Published: December 2024

Introduction: Sarcoidosis is a multisystem inflammatory disease of unknown etiology. It is more common in women and in people suffering from obesity. A characteristic feature is the formation of non-sarcomatous granulomas, which could occure important organs. It could also present as an asymptomatic form, and its diagnosis may be made incidentally on a routine chest X-ray.
Aim of the study: The aim of this study was to review the literature describing the disease sarcoidosis-its course, clinical forms, diagnosis and treatment.
Methods and materials: : We reviewed the literature available in the PubMed database, using the key words: "sarcoidosis"; "granulomatosis’’; “cardiac sarcoidosis”; “neurosarcoidosis”; "pulmonary sarcoidosis''.
Results: The most common form of sarcoidosis is pulmonary, with enlargement of hilar lymph nodes and parenchymal lesions. The disease could manifest itself in the form of skin lesions-specifically and non-specifically, ocular lesions, where nay most often appears as uveitis, usually bilateral, and could also involve the heart. Patients with neurosarcoidosis usually have involvement of the pituitary, hypothalamus, meninges and cranial nerves.
Conclusion: The diagnosis of sarcoidosis is difficult because its symptoms are often nonspecific. Diagnosis is based on exclusion of other diseases and is confirmed through imaging, histopathological, and immunological tests. In most cases, the prognosis of sarcoidosis is positive, and the disease may resolve spontaneously or under treatment. Treatment of sarcoidosis depends on the severity of the disease and the involvement of specific organs, the most common treatment is glucocorticoids.
Are GLP-1 Analogues a New Solution for the Treatment of NAFLD?
Authors: Sudoł Maria , Dąbek Katarzyna , Ochwat Michał , Piekarska Martyna , Skowronek Anna , Kajtel Aleksandra , Mierzwa Gabriela , Sudoł Zofia 
Published: December 2024

ABSTRACT
Introduction and purpose:
There is currently a pandemic of overweight and obesity, which is closely associated with non-alcoholic fatty liver disease (NAFLD). It is the most common cause of chronic liver disease [1]. The global prevalence of this condition reaches 25% of the population and 65-70% of patients with type 2 diabetes [2]. There is no approved pharmacological treatment for NAFLD, and the current mainstay of NAFLD treatment is lifestyle modification and weight reduction, which is difficult to achieve and even more difficult to maintain. NAFLD represents a serious health and economic burden, which is why the search for an effective therapy is so important [1,2,3].
The purpose of this review was to assess the current knowledge of the efficacy of GLP-1 (Glucagon-like peptide-1) analogs in the treatment of NAFLD.
Material and methods:
Data bases such as Pubmed and GoogleScholar were used for research with the key words included: MAFLD, NAFLD, GLP‐1 receptor agonists, GLP‐1 analogues, incretin mimetics. The review included studies that evaluated the efficacy of GLP-1 receptor agonists in the adult population.
Description of the state of knowledge:
Glucagon-like peptide-1 (GLP-1) analogues are drugs approved for the treatment of type 2 diabetes and obesity with pleiotropic effects. They have a beneficial effect on the glycemic profile, reduce body weight and have an anti-inflammatory effect. They appear to be a promising therapy for the treatment of NAFLD, as these patients are usually overweight/obese and have insulin resistance and/or diabetes [1,3].
Conclusions:
It is hoped that in the coming years the efficacy of these drugs in NAFLD will be confirmed and they will be approved for this indication [1].
Complications of anorexia nervosa - literature review
Authors: Buszek Sylwia , Widawska Katarzyna , Bajak Mateusz , Czerniak Piotr , Buszek Julia , Wajdowicz Halszka , Warzocha Mateusz , Sokołowska Aldona , Dacz Krzysztof 
Published: December 2024

Introduction
Anorexia nervosa is a serious mental disorder characterised by a strong fear of gaining weight, impaired self-perception and weight loss activities. It mainly affects young females and has the highest mortality rate of mental disorders. The aetiology is multifactorial, and treatment most often consists of psychotherapy and pharmacotherapy. The sooner it is started, the better the effect it brings.
Aim of the Study
The aim of this publication is to present possible complications in the course of anorexia nervosa. This is to emphasise that anorexic patients require multidisciplinary care.
Materials and Methods
An analysis of papers available in PubMed was performed. The following keywords were used: anorexia nervosa, anorexia nervosa complications.
Description of the state of knowledge
Anorexia nervosa is classified as a mental disorder, but it nevertheless has many physical consequences. Patients hospitalised for AN often present multiple somatic symptoms. It affects, among others, the cardiovascular, endocrine, respiratory, pulmonary and digestive systems. Malnutrition triggers many mechanisms that manifest themselves in different ways and sometimes lead to irreversible changes.
Conclusions
Malnutrition has consequences in almost every system and organ. They range from mild to life-threatening. Some of them can even contribute to or trigger sudden death. It is worth emphasising that most complications disappear after returning to normal body weight and proper nutrition. The recovery process is also fraught with risk, as complications can also occur in its course.
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Impact of Nutritional Supplementation in Selected Chronic Medical Conditions: A Review
Authors: Chodkowski Jakub 
Published: December 2024

Introduction: Nutritional supplementation has become an integral part of managing chronic medical conditions, offering potential benefits in improving patient outcomes and quality of life. This review explores the evidence supporting the role of dietary supplements in selected chronic conditions, including cardiovascular disease, diabetes, osteoporosis, and inflammatory disorders, while highlighting potential risks and limitations.
Materials and Methods: A systematic review of peer-reviewed literature was conducted using databases such as PubMed, Scopus, and Google Scholar. Studies published between 2010 and 2023 were included if they examined the clinical impact of supplements like omega-3 fatty acids, vitamin D, calcium, chromium, and curcumin. Meta-analyses, randomized controlled trials, and observational studies were prioritized. Data extraction focused on efficacy, safety, and recommended dosages.
Results: Evidence suggests that omega-3 fatty acids reduce inflammation and improve lipid profiles in cardiovascular patients. Vitamin D and calcium significantly enhance bone mineral density in osteoporosis. Chromium and alpha-lipoic acid demonstrate modest improvements in glycemic control for diabetes. However, concerns about supplement overuse, potential drug interactions, and variability in product quality persist.
Conclusions: While supplementation offers therapeutic benefits in managing specific chronic conditions, its efficacy depends on patient-specific factors, including baseline nutrient status and disease severity. Clinicians must adopt an evidence-based approach, ensuring personalized recommendations and emphasizing the importance of quality control in supplementation practices. Further research is needed to clarify long-term effects and optimal dosages.
Species diversity and spatial distribution of bats in Butuan City, Philippines
Authors: PASTOR PAUL JOHN B. , SUSI CHRISTIAN GUILLEMORE O. , QUIDET JEDIDIAH JARA , LADESMA JUVY IMEE A. , ESTAÑO LEONARDO A. 
Published: December 2024

Abstract. Pastor PJB, Susi CGO, Quidet JJ, Ladesma JIA, Estaño LA. 2024. Species diversity and spatial distribution of bats in Butuan City, Philippines. Biodiversitas 25: 2791-2799. Southeast Asia's mammalian biodiversity is exceptional in the Philippines, especially on Mindanao Island, where 53 bat species have been documented. While prior studies in the Caraga region identified vulnerable and endemic bat species, research on diversity and conservation in Butuan City remains limited. Bat biodiversity is essential in the country, and understanding Butuan City's bat populations is critical for conservation. This study recorded a total of 2,583 bats belonging to the family Pteropodidae with species Ptenochirus jagori Peters 1861, Ptenochirus minor Yoshiyuki 1979, Macroglossus minimus E.Geoffroy 1810, Cynopterus brachyotis Müller 1838, Rousettous amplexicaudatus E.Geoffroy 1810, as well as Scotophilus kuhlii Leach 1821 belonging to the family Vespertillionidae. Across six sampling sites, moderate species richness of Pteropodidae bats was observed (Shannon-Weiner Diversity Index, H' 1.13-1.47). However, analyses of evenness and dominance revealed variations in community structure. Barangay De Oro displayed the most balanced abundance, while other sites likely harbored a dominant species, potentially C. brachyotis or P. jagori. Bray-Curtis Similarity results corroborated these findings, grouping sites based on shared assemblages. Moreover, the significance of Butuan City for bat conservation is emphasized by the capture of a substantial proportion of a Philippine endemic (38.37%, P. jagori) and a Mindanao endemic (3.99%, P. minor). Distribution patterns across the sampled barangays suggested habitat specialization, with some species exhibiting preferences for specific features. Notably, S. kuhlii was captured exclusively in Ampayon. These findings highlight the need for multifaceted conservation strategies. Protecting core habitat areas within Bilay, Maguinda, and Sumile of Butuan, particularly for endemic species, is crucial.
Moiré effect in combined planar and curved objects: erratum
Authors: Saveljev Vladimir , Heo Gwanghee 
Published: December 2024

This erratum corrects errors in a cited figure number and in
Eqs. (20), (28), and (29) of the original paper [J. Opt. Soc. Am. A
41, 1884 (2024)JOAOD60740-323210.1364/JOSAA.527707].
Olokizumab plus methotrexate: safety and efficacy over 106 weeks of treatment
Authors: Feist Eugen , Fleischmann Roy M. , Fatenejad Saeed , Bukhanova Daria , Grishin Sergey , Kuzkina Sofia , Luggen Michael , Nasonov Evgeniy , Samsonov Mikhail , Smolen Josef S. 
Published: December 2024

Objective. To report long-term safety and tolerability of olokizumab (OKZ) in combination with methotrexate (MTX) in subjects with active rheumatoid arthritis (RA), using pooled data from three randomised clinical trials (RCT) followed by open-label extension (OLE) study.Methods. Cumulative data from three phase 3 core trials and their OLE were analysed. Safety variables assessed included treatment-emergent adverse events (AEs), serious AEs (SAEs), AEs of special interest and laboratory results. Efficacy assessments included ACR20/50/70 responses, Disease Activity Score 28 (C-reactive protein) <3.2, CDAI remission and low disease activity (LDA), SDAI remission and LDA, HAQ-DI decrease of 0.22 unit and Boolean 2.0 remission.Results. A total of 2304 patients received OKZ in combination with MTX either once every 2 weeks or once every 4 weeks. Event rates per 100 patient-years in OKZ every 2 weeks and OKZ every 4 weeks, respectively, were 9.57 and 9.13 for SAEs; 2.95 and 2.34 for serious infections; 0.09 and 0.05 for gastrointestinal perforations; 0.58 and 0.83 for major adverse cardiovascular events; and 0.45 and 0.50 for malignancies. No increase in the rate of any AE was observed over 106 weeks of treatment. The evaluation of laboratory variables demonstrated the expected changes, like neutropenia, elevation of liver enzymes and blood lipids. Clinical response rates remained stable during the OLE.Conclusion. The long-term safety and tolerability of OKZ in combination with MTX remained stable. The efficacy of OKZ was maintained through week 106. These findings support OKZ as a treatment option for patients with active RA.
Comparative study of the clinical efficacy of the first domestic bioanalogue of tocilizumab based on the results of a randomized clinical trial of phase III
Authors: Akatova E. V. , Bakhareva Yu. S. , Bugrova O. V. , Vinogradova I. B. , Gerasimova E. V. , Drevina Yu. E. , Ershova O. B. , Zonova E. V. , Ivanova Yu. I. , Ilivanova E. P. , Kostik M. M. , Krechikova D. G. , Kusevich D. A. , Maslyansky A. L. , Meshkov A. D. , Mosesova N. S. , Nagornova K. A. , Nosovich D. V. , Polyakova S. A. , Popova T. A. , Smolyarchuk E. A. , Sorotskaya V. N. , Shvarts Yu. G. , Shilova L. N. , Shostak M. S. , Yunonin I. Yu. , Akhtyamova-Givirovskaya N. E. , Khamitov R. A. , Markova O. A. , Zagoruiko E. I. , Zuev E. V. 
Published: December 2024

The article discusses the results of a comparative phase III clinical trial of the efficacy and safety of the biosimilar Complarate (CPR; JSC Generium, Russia) and the reference drug Actemra (ACT; F. Hoffmann-La Roche Ltd., Switzerland) to assess their equivalence in patients with rheumatoid arthritis, RA (NCT06475508 clinicaltrials.gov).Materials and methods. Male and female patients aged 18–75 years with RA with moderate to high disease activity and insufficient response to methotrexate (MTX) monotherapy and/or poor tolerability of MTX and/or insufficient response or intolerance to other standard DMARDs in combination with or without MTX were enrolled in the study. 464 (89.4%) patients were randomized in a 2:1 ratio into two groups. The study and the reference drug were administered as an intravenous infusion at a dose of 8 mg/kg once every 4 weeks. The primary endpoint was the proportion of patients with an ACR20 after 24 weeks of therapy.Results and discussion. The proportion of responders in CPR group was 91.2%, and in ACT group – 90.7% (p = 0.866). The difference between the groups was 0.5% (95% CI: -5,2%−6,1%), which is fully within the declared boundaries of recognition of therapeutic equivalence. Comparability of the biosimilar CPR and the reference drug ACT is also confirmed by the results of secondary efficacy endpoints: the proportion of patients with ACR50/70, dynamics of the DAS28, SDAI, CDAI, the functional activity of patients (HAQ), laboratory parameters of inflammatory activity (ESR and CRP). Comparability of the study and the reference drugs is also demonstrated by the results of the safety analysis.Conclusion. Based on the results of the clinical study, it has been proven that CPR (JSC Generium, Russia) is a biological analogue of ACT (F. Hoffmann-La Roche Ltd., Switzerland).
Serum calprotectin in Behcet's disease
Authors: Nurbaeva K. S. , Cherkasova M. V. , Goloeva R. G. , Lila A. M. , Reshetnyak T. M. 
Published: December 2024

Objective: to assess the level of serum calprotectin (CLP) in Behcet's disease (BD).Material and methods. The study included 90 patients with BD (35 women and 55 men) and 30 healthy controls (22 women and 8 men). The mean age of the BD patients was 32 [26; 37] years, that of the control subjects was 30 [25; 37] years. Serum CLP levels were measured with an enzyme immunoassay using a reagent kit from Bulhmann Laboratories AG (Switzerland). Results and discussion. CLP levels were statistically significantly higher in patients with BD compared to healthy controls (median 4.08 [2.81; 7.25] vs. 2.86 [2.15; 3.92] μg/ml; p=0.003). Elevated serum CLP levels were found in 23 (26%) of the 90 patients with BD. Patients with high CLP levels were more likely to have active uveitis (odds ratio, OR 4.741; p=0.011), pustulosis (OR 3.41; p=0.044), arthritis (OR 13.89; p=0.014) and high BD activity (OR 3.195; p=0.029). A direct correlation was found between CLP level and BDCAF activity index (rs=0.415, p<0.0001), CRP (rs=0.466, p <0.0001) and ESR (rs=0.357, p=0.001).Conclusion. Serum CLP levels are elevated in patients with BD and are associated with high disease activity, active uveitis, pustulosis and arthritis.
Dynamics of laboratory markers of endothelial dysfunction in patients with psoriatic arthritis under the influence of the interleukin-17A inhibitor netakimab
Authors: Petrov A. V. , Pritulo O. A. , Petrov A. A. 
Published: December 2024

Objective: a comparative evaluation of the effect of the interleukin-17A inhibitor (iIL) netakimab (NTK) and methotrexate (MTX) on laboratory markers of endothelial dysfunction in patients with psoriatic arthritis (PsA) in comparison with the dynamics of clinical efficacy indicators during 6 months of therapy.Material and methods. We performed a dynamic observation of 66 patients with PsA who were prescribed MTX and NTK for the first time. Thirty of them (group 1) received MTX 15 mg/week in the form of subcutaneous (s/c) injections in combination with folic acid 5 mg/week orally; 36 patients (group 2) received NTK as s/c injections at a dose of 120 mg at weeks 0, 1 and 2, and then once every 2 weeks until week 14, from week 14 – once every 4 weeks. The control group consisted of 20 substantially healthy individuals without skin diseases, rheumatic immune-inflammatory diseases of the musculoskeletal system and clinically significant diseases of the cardiovascular system. The clinical data were analyzed before, 3 and 6 months after the start of treatment. In all patients, the concentration of vascular endothelial growth factor (VEGF), endothelin 1 (En-1) and nitric oxide (NO) was analyzed before the start of treatment and at the end of the third month of treatment.Results and discussion. The concentration of laboratory markers for endothelial dysfunction was increased in patients with PsA compared to the control group: the median value of VEGF was 19.8 [4.5; 49.4] and 5.2 [0.5; 9.8] pg/ml (p=0.004), En-1 – 286.4 [154; 439] and 96.5 [32; 188] pg/ml (p=0.002), NO – 4.3 [2.1; 12.5] and 2.2 [0.2; 5.0] pg/ml (p=0.02), respectively. By the end of the 3rd month of therapy, a decrease in the concentration of indicators of endothelial dysfunction was observed. The dynamics of VEGF and En-1 concentrations was more pronounced in patients receiving NTK during the first 3 months of treatment than in patients receiving MTX treatment. The median decrease in VEGF concentration was 10.2 [8.4; 13.7] and 7.0 [5.6; 11.7] pg/ml (p=0.043), in En-1 – 184.6 [167; 202] and 112.7 [97; 136] pg/ml (p=0.008), respectively. A more significant decrease in LEI, PASI and NAPSI was achieved when NTK was used for 3 and 6 months compared to MTX therapy.Conclusion. The work demonstrated the ability of NTK, iIL17A, to reduce the initially elevated levels of laboratory markers of endothelial dysfunction.