bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mast cell activation syndrome: A new outlook
Authors: Mikryukova N. V. , Kalinina N. M. 
Published: January 2024

Mast Cell Activation Syndrome (MCAS) is a severe relapsing disease requiring inpatient treatment, with clinical pattern including the features of anaphylaxis. The article presents diagnostic criteria aimed for differentiation of MCAS from similar severe conditions as well as discusses local forms of mast cell activation. The consensus group has established distinct criteria for diagnosing MCAS. The agreed criteria include episodic (recurrent) occurrence of typical systemic symptoms caused by release of mast cell mediators and involve, at least, two organs; an increase in serum tryptase level by, at least, 20% over individual baseline tryptase plus 2 ng/mL tryptase during 3-4 hours of the pathological reaction; a positive response to drugs that either target mast cells mediators, or their effects. In principle, the classification of MCAS is based on its etiology being subdivided into primary (clonal) MCAS, secondary MCAS, and idiopathic MCAS. The primary MCAS is determined by clonal expansion of mast cells and is considered systemic mastocytosis. In secondary MCAS, normal mast cells are activated by the known triggers, e.g., IgE. If neither clonal expansion nor a trigger for mast cells activation are identified, the condition is defined as idiopathic MCAS.The new COVID-19 infection has attracted particular interest in MCAS, since the severe course of COVID-19 was thought to develop due to latent MCAS, but the criteria for MCAS in these patients were not reproduced. In the presence of local symptoms, such as urticaria, or in cases of single-organ involvement, e.g., isolated gastrointestinal symptoms, and suspected mast cell activation being basic to pathogenesis, the term mast cell activation disorder was introduced. Moreover, the article discusses several different mediators that are proposed as markers in the diagnosis of MCAS.However, over-diagnosis of MCAS entails the risk of missing the underlying pathology, which is not associated with MCAS, and requires differential diagnosis with a number of diseases. In the absence of severe attacks (with hypotension and shock), the likelihood of MCAS is generally very low. Of course, the patients with mastocytosis and/or confirmed IgE-dependent allergy are at higher risk of developing MCAS, but a key diagnostic marker is an event-related increase in mast cells tryptase from baseline determined over the asymptomatic period. The diagnosis of MCAS is highly likely if the tryptase level rises above a certain threshold (20% of baseline plus 2 ng/mL).
Systemic cytokines in elderly patients with coronary heart disease at early recovery from COVID-19
Authors: Agarkov N. M. , Zhernakova N. I. , Negrebetskiy V. A. 
Published: January 2024

The development of COVID-19 is accompanied by involvement of various cytokines in pathological process. Their change depends on age, concomitant pathology and some other factors that have not been sufficiently studied in elderly patients with coronary heart disease (CHD). The content of cytokines in blood plasma of patients aged 60-74 in the early period of recovery from COVID-19 also remains unknown. The aim of our study was to determine the content of systemic cytokines in elderly patients with coronary heart disease at the early stages of recovery after COVID-19. The patients aged 60-74 with CHD who had COVID-19 of moderate severity grade (n = 40) made up the main group. in which the study of The cytokine levels were studied in blood plasma 3 to 4 weeks after recovery. The control group consisted of 38 elderly patients with coronary heart disease and negative tests for COVID-19. of cytokines in both groups were determined by means of flow cytometry with “Becton Dickinson FACS Canto 2 (USA)” machine using appropriate reagent sets. We have found that, in elderly patients with CHD at 3-4 weeks after recovery from COVID-19, if compared with elderly patients with CHD without COVID-19, the content of IL-6 in blood plasma was increased to higher degree and at statistically significant difference, up to 32.9±2.3 pg/mL versus 6.5±0.7 pg/mL in the control group (p < 0.001). Excessive content in the main group was also detected for IL-17 in blood plasma which was 25.4±1.9 pg/mL at the early post-COVID-19 period, whereas it was 7.8±0.7 pg/mL (p < 0.001) in the age-matched patients with CHD only. TNFα and IFNγ levels were elevated among 60-74-year-old patients with CHD and COVID-19 at 3-4 weeks after recovery, being 128.6±2.7 pg/mL and 57.6±2.8 pg/mL, respectively. In control group, the concentration of these cytokines was significantly lower, i.e., 56.3±2.2 pg/mL and 25.9±1.7 pg/mL, respectively (p < 0.001). The changes in contents of other cytokines studied seemed less pronounced, and the level of IL-4 was not significantly different between the both groups. Hence, in elderly patients with CHD and COVID-19 at 3-4 weeks after recovery, IL-6, IL-17, TNFα and IFNγ are the most elevated cytokines at the systemic level.
The clinical significance of the determination of urinary biomarkers of podocytic damage and fibroangiogenesis in patients with diabetes mellitus
Authors: Bobkova I. N. , Shestakova M. V. , Schukina A. A. 
Published: January 2024

Chronic kidney disease (CKD) in patients with diabetes mellitus (DM) remains a global medical and social problem of the 21st century and the leading cause of end-stage renal disease (ESRD). Kidney damage in diabetes is multifactorial, and diagnosis is often delayed, since structural changes in the glomeruli of the kidneys are detected before the appearance of significant albuminuria (AU) and a decrease in glomerular filtration rate. In this regard, the search for new, early informative biomarkers for the diagnosis of CKD in patients with DM is extremely relevant.Target: To establish the significance of biomarkers of podocyte dysfunction and fibro and angiogenesis excreted in the urine for early diagnosis and assessment of the risk of progression of kidney damage in patients with DM. Materials and Methods: in 74 patients with type 1 and type 2 diabetes (30 and 44, respectively), podocyte proteins and markers of fibro and angiogenesis were determined in the urine by enzyme immunoassay.Results: in patients with diabetes, compared to healthy people, there is increased urinary excretion of podocyte damage markers - nephrin, podocin, and fibroaniogenesis markers – type IV collagen, TGFβ-1, VEGF. Concentrations of nephrin in urine >7.18 ng/U/Cr urine and collagen >12.88 ng/U/Cr urine reliably indicate kidney damage. In patients with diabetes in the absence of traditional signs of CKD, diagnostically significant concentrations of nephrin were detected in 22% of cases, and collagen in 16.6%.Conclusion: determination of nephrin and/or type IV collagen in urine can be used both for early diagnosis and for monitoring kidney damage in diabetes.
A comprehensive clinico‐pathological and genetic evaluation of bottom‐of‐sulcus focal cortical dysplasia in patients with difficult‐to‐localize focal epilepsy
Authors: Ying Zhong , Wang Irene , Blümcke Ingmar , Bulacio Juan , Alexopoulos Andreas , Jehi Lara , Bingaman William , Gonzalez‐Martinez Jorge , Kobow Katja , Niestroj Lisa Marie , Lal Dennis , Koelble Konrad , Najm Imad 
Published: January 2024

ABSTRACTAims. We comprehensively studied the clinical presentation, stereo‐EEG and MRI findings, histopathological diagnosis, and brain somatic mutations in a retrospective series of drug‐resistant patients with difficult‐to‐localize epilepsy due to focal cortical dysplasia at the bottom of a sulcus (BOS‐FCD).Methods. We identified 10 patients with BOS‐FCD from the Cleveland Clinic epilepsy surgery database submitted for intracranial video‐EEG monitoring. Brain MRI, including voxel‐based morphometric analysis and surgical tissue submitted for histopathology, was reviewed. Paraffin tissue samples from five patients were made available for targeted next‐generation sequencing. Postsurgical follow‐up was available in nine patients.Results. BOS‐FCD was identified in the superior frontal sulcus in six patients, inferior frontal sulcus in one patient, central sulcus in one patient, and intraparietal sulcus in two patients. All patients had stereotyped seizures. Intracranial EEG recordings identified ictal onset at the BOS‐FCD in all 10 patients, whereas ictal scalp EEG had a localizing value in only six patients. Complete resection was achieved by lesionectomy or focal corticectomy in nine patients. Histopathologically, six patients had FCD type IIb and three had FCD type IIa. Next‐generation sequencing analysis of DNA extracted from lesion‐enriched (micro‐dissected) tissue from five patients with FCD type II led to the identification of a germline frameshift insertion in DEPDC5, introducing a premature stop in one patient. Eight out of nine patients with available follow‐up were completely seizure‐free (Engel Class IA) after a mean follow‐up period of six years.Conclusion. Our results confirm previous studies classifying difficult‐to‐localize BOS‐FCD into the emerging spectrum of FCD ILAE type II mTORopathies. Further studies with large patient numbers and ultra‐deep genetic testing may help to bridge the current knowledge gap in genetic aetiologies of FCD.
Absence status induced by lacosamide adjunctive therapy
Authors: Ákos Szabó Charles , Morgan Lola C. , Sonnenberg Suzanne , Karkar Kameel M. 
Published: January 2024

ABSTRACTSince lacosamide was approved as an adjuvant agent for the treatment of medically refractory focal epilepsy over ten years ago, it is becoming more widely used for the treatment of idiopathic (genetic) generalized epilepsies. Several studies have demonstrated efficacy in reducing primary generalized tonic‐clonic seizures (GTCS), but efficacy is less well‐characterized for myoclonic and absence seizures. A 29‐year‐old man with juvenile myoclonic epilepsy and medically refractory GTCS on a combination of levetiracetam and topiramate was started on lacosamide adjunctive therapy with the plan to replace topiramate. While his GTCS became controlled, he was witnessed to have confusional episodes, with waxing and waning responsiveness, lasting a few days, several times a month. After eight months of adjunctive lacosamide therapy, he was admitted to the epilepsy monitoring unit, where paroxysms of generalized spike‐and‐wave complexes, lasting for 30‐90 minutes, were recorded, interrupted only by sleep. During these periods, he demonstrated psychomotor slowing and disorientation on examination. The absence status was successfully broken by lorazepam, and lacosamide was discontinued. The patient had no further confusional episodes at the most recent follow‐up visit, four months after discharge.
Roadmap for a competency‐based educational curriculum in epileptology: report of the Epilepsy Education Task Force of the International League Against Epilepsy
Authors: Blümcke Ingmar , Arzimanoglou Alexis , Beniczky Sandor , Wiebe Samuel ,   the EpiEd Task Force
Published: January 2024

ABSTRACTTeaching competency in the diagnosis and clinical management of epilepsy is of utmost importance for the ILAE. To achieve this mission, the Task Force for Epilepsy Education (EpiEd) developed a competency‐based curriculum for epileptology, covering the spectrum of skills and knowledge for best medical practice. The curriculum encompasses seven domains, 42 competencies, and 124 learning objectives, divided into three levels: entry (Level 1), proficiency (Level 2), and advanced proficiency (Level 3). A survey of the currently existing ILAE‐endorsed teaching activities identified a significant gap in education of basic knowledge of epileptology (Level 1). To bridge this gap, a web‐based educational tool is being developed. A virtual campus will be constructed around the curriculum, integrating the various educational activities of the ILAE. This paper describes the development of the curriculum and future tasks necessary to achieve the educational goal of the ILAE.
Current treatment options for Encephalopathy related to Status Epilepticus during slow Sleep
Authors: Jansen Floor E. , Nikanorova Marina , Peltola Martina 
Published: January 2024

AbstractThe major goal of therapy in patients with Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is to prevent or reduce associated cognitive deficits. Whether or not the EEG pattern of ESES should be completely suppressed to improve cognition is unknown. In clinical practice, there are two major challenges: to establish the optimal treatment strategy in patients with ESES, and to identify the patients who will benefit most from therapy, including atypical cases. Here, we provide a comprehensive overview of the current literature on treatment efficacy in patients with ESES.
Indications and expectations for neuropsychological assessment in epilepsy surgery in children and adults
Authors: Baxendale Sallie , Wilson Sarah J. , Baker Gus A. , Barr William , Helmstaedter Christoph , Hermann Bruce P. , Langfitt John , Reuner Gitta , Rzezak Patricia , Samson Séverine , Smith Mary‐Lou 
Published: January 2024

ABSTRACTIn our first paper in this series (Epilepsia 2015; 56(5): 674–681), we published recommendations for the indications and expectations for neuropsychological assessment in routine epilepsy care. This partner paper provides a comprehensive overview of the more specialist role of neuropsychological assessment in the pre and postoperative evaluation of epilepsy surgery patients. The paper is in two parts. The first part presents the framework for the mandatory role of neuropsychologists in the presurgical evaluation of epilepsy surgery candidates. A preoperative neuropsychological assessment should be comprised of standardised measures of cognitive function in addition to wider measures of behavioural and psychosocial function.The results from the presurgical assessment are used to: (1) establish a baseline against which change can be measured following surgery; (2) provide a collaborative contribution to seizure characterization, lateralization and localization; (3) provide evidence‐based predictions of cognitive risk associated with the proposed surgery; and (4) provide the evidence base for comprehensive preoperative counselling, including exploration of patient expectations of surgical treatment.The second part examines the critical role of the neuropsychologist in the evaluation of postoperative outcomes. Neuropsychological changes following surgery are dynamic and a comprehensive, long‐term assessment of these changes following surgery should form an integral part of the postoperative follow‐up. The special considerations with respect to pre and postoperative assessment when working with paediatric populations and those with an intellectual disability are also discussed.The paper provides a summary checklist for neuropsychological involvement throughout the epilepsy surgery process, based on the recommendations discussed.
Surgical treatment of extra‐hypothalamic epilepsies presenting with gelastic seizures
Authors: Joswig Holger , Rejas‐Pinelo Patricia , Suller Ana , McLachlan Richard S. , Steven David A. 
Published: January 2024

ABSTRACTWe provide an overview of the surgical outcome of extra‐hypothalamic epilepsies with gelastic seizures based on an original case report and a summary of the literature. Twenty‐two articles providing information on the outcome of resective surgery in 39 patients with extra‐hypothalamic gelastic seizures from the temporal (19 patients) or frontal lobe (20 patients) were selected. We add another case of temporal lobe gelastic seizures to the literature with a video demonstrating the mirthful component of this patient's laughing seizures. Drug‐refractory cases of gelastic seizures from the temporal or frontal lobes are amenable to surgical treatment following thorough investigation with imaging, as well as scalp and intracranial EEG.
Juvenile myoclonic epilepsy phenotype in a family with Unverricht‐Lundborg disease
Authors: Berrechid Amina Gargouri , Bendjebara Mouna , Bouteiller Delphine , Nasri Amina , Peuvion Jean‐Noël , Marie Yannick , Baulac Stéphanie , Mrabet Saloua , Ribierre Théo , Cazeneuve Cecile , Imenkacem  , Leguern Eric , Gouider Riadh 
Published: January 2024

ABSTRACT

Aims
. Unverricht‐Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation, of the cystatin B (
CSTB
) gene. We report a clinical and molecular study of a Tunisian ULD family with five affected members presenting with a juvenile myoclonic epilepsy (JME)‐like phenotype.

Methods
. The expansion of dodecamers was detected by a deamination/PCR assay. The expression profiles of
CSTB
and other candidate modifying genes, cathepsin B and cystatin C, were established by quantitative RT‐PCR, and their respective transcription levels were compared with those from patients with a classic picture of ULD.

Results
. Three patients had a fixed phenotype mimicking JME after 29 years of evolution. Only a discrete dysarthria was noticed in the two other patients. No correlation was observed between transcription level and severity of disease.

Conclusion
. Genetic screening should be performed in patients with a JME‐like phenotype, when careful examination reveals discrete atypical signs of JME. This particular phenotype may be due to modifying genes and/or gene‐environment interactions which require further clarification.
Bilateral synchronous gamma range firing of bulbar motor units during tonic seizures
Authors: Zwarts Machiel , van Erp Gerard , van Dijk Hans 
Published: January 2024

ABSTRACT
We present a patient with tonic seizures of the bulbar muscles. Video‐EEG recording during the multiple attacks showed no ictal EEG abnormalities. The tonic seizures were clearly visible as EMG artefacts on the EEG recording and consisted of 3–6 symmetric tonic bursts of EMG activity of 2–4 seconds and an interval of 2–6 seconds. Spectral analysis showed a very distinct, bilateral synchronous, dominant gamma peak on the EMG spectra during the seizures with a cross correlation of 0.67 between left and right without a time lag. We discuss whether this peak originates from the firing frequencies of the bulbar motor units, and whether this is consistent with the Piper rhythm described during maximal voluntary contraction in controls and related to firing in the gamma range of the cortical motor neurons. We conclude that the EMG artefacts recorded on EEG during seizures can be informative with regards to the type and pathophysiology of epilepsy.
Yield and cost‐effectiveness of tilt table tests combined with video‐EEG
Authors: Chen Hai , Mercader Marco , AlGaeed Mohanad , Koubeissi Mohamad 
Published: January 2024

ABSTRACT

Aim
. To study the outcomes of a series of consecutive tilt table tests combined with video‐EEG (TTVE) at a single center, and assess their cost‐effectiveness compared with other neurophysiological tests.

Methods
. We retrospectively reviewed medical records of patients who underwent TTVE studies between March 1
st
, 2013 to April 1
st
, 2018. Detailed clinical history, including patient demographics, reasons for referral, anti‐seizure medications, and neurophysiological studies obtained prior to the TTVE studies were extracted from chart reviews. The fee for each neurophysiological test was identified from the Centers for Medicare & Medicaid Services.

Results
. Fifty‐two patients underwent TTVE studies. Thirteen patients (25%) were diagnosed with vasovagal syncope, two (3.8%) were diagnosed with postural orthostatic tachycardia syndrome, and three (5.8%) had psychogenic non‐epileptic events during the test. Four out of 12 patients stopped anti‐seizure medication(s) after the TTVE. Prior to referral for TTVE, an average of $3,748 per person was spent on neurophysiological tests, which were inconclusive. The average fee for one TTVE test was $535.32, and the fee per test affecting diagnosis or management (defined as the cost divided by the yield of the test) was $1,547.

Conclusions
. The TTVE test is cost‐effective in evaluating refractory episodes of loss of consciousness, atypical of epileptic seizures. In addition to diagnosing syncope, TTVE can be valuable in identifying psychogenic events.
Chronic thromboembolic pulmonary hypertension in a patient with myxoma of the heart and thrombophilia of mixed genesis
Authors: Okorokov V. G. , Evsina O. V. , Fomina V. A. , Tkachenko K. A. , Dubova N. V. , Khashumov R. M. 
Published: January 2024

Objective. To describe the clinical case of a young patient with chronic thromboembolic pulmonary hypertension (CTEPH) with heart myxoma and thrombophilia of mixed origin, who underwent surgical treatment.Materials and methods. Patient Z., 24 years old, was admitted to the cardiology department with cough with sputum production that occurs during physical activity, including streaks of blood, shortness of breath with slight physical exertion, legs and feets edema, weakness and dizziness. The examination was carried out: electrocardiography; multislice computed tomography pulmonary angiography; echocardiography (EchoCG); transesophageal EchoCG; magnetic resonance imaging of the heart with contrast; screening for coagulopathy.Results. Based on clinical data, medical history, laboratory, instrumental diagnostic, we have put the diagnosis: Myxoma of the right atrium. Patent foramen ovale. Thrombophilia of mixed origin: hereditary – heterozygous mutation of the prothrombin gene (factor 2), acquired – hyperhomocysteinemia. Postthrombotic deep vein disease of the left lower limb. Recurrent pulmonary embolism (last relapse dated October 19, 2022). CTEPH functional class III (World Health Organization), moderate risk. Congestive heart failure with reduced right ventricular ejection fraction, functional class III (by the New York Heart Association). Relative tricuspid valve regurgitation grade 3. The patient underwent surgery: thromboendarterectomy from the right pulmonary artery under conditions of circulatory arrest and deep hypothermia, removal of a right atrium myxoma under conditions of artificial circulation and blood cold cardioplegia: tricuspid valve plasty according to De Vega. After surgery patient’s condition was significantly improved.Conclusion. The features of diagnosis and treatment of a patient suffering from CTEPH and cardiac myxoma are outlined. Surgery: Pulmonary thrombectomy and cardiac myxoma removal may improve the patient’s condition with CTEPH and left atrial myxoma.
TAFRO syndrome associated with C3 nephropathy (an analysis of clinical experience)
Authors: Pozharov I. V. , Grigorevskaya A. O. , Setdikova G. R. , Stolyarevich E. S. 
Published: January 2024

Aim. To present a clinical case of TAFRO syndrome – a recently described subtype of idiopathic multicentric Castleman disease of unknown etiology, characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis of the bone marrow and / or renal dysfunction, organomegaly associated with an increase in serum IL-6 secretion.Materials and methods. Herein, we report a young patient diagnosed with TAFRO combined with C3 nephropathy. The patient was treated with glucocorticoids (methylprednisolone), colchicine, sarilumab, rivaroxaban, and symptomatic treatment.Results. Key aspects of diagnosis, treatment and course of the syndrome were discussed. The possibility of the combined course of two rare pathologies – a subtype of idiopathic multicentric Castleman disease and C3 nephropathy is still unclear.Conclusion. The diagnosis of TAFRO syndrome can be considered after the exclusion of a number of infectious, paraneoplastic, systemic connective tissue diseases, POEMS syndrome, liver cirrhosis against the background of autoimmune hepatitis, autoimmune thrombocytopenic purpura, as well as hemolytic-uremic syndrome. Kidney damage in this category of patients, in most of the described clinical cases, is morphologically represented by thrombotic microangiopathy or mesangioproliferative glomerulonephritis. C3 nephropathy in that clinical case seems to be concomitant. Glucocorticoids in high and ultrahigh doses, cyclosporine, IL-6 type inhibitors, as well as anti-CD20 antibodies are used as therapy.