Heterozygosity for the Budapest 3 mutation in SERPINC1 in a family with thrombophilia and structural anomalies of the inferior vena cava.

BACKGROUND: Atresia of the infrarenal inferior vena cava (IVC) is associated with thrombophilia and antithrombin (AT) deficiency (ATD) due to homozygosity for the so-called Budapest 3 variant, c.391C > T, in the gene, SERPINC1. CASE PRESENTATION: We report on a father and his two sons that had severe thrombosis at a young age. One son had absence of, and the other had very gracile infrarenal IVC. The father had gracile vena iliaca. All had significant collateral building. AT activity was determined with four different methods and varied between moderately reduced and borderline normal values, depending on the method. While all were heterozygous for c.391C > T, the father was also heterozygous for a variant of uncertain significance in SERPINC1. CONCLUSIONS: The findings support the association between c.391C > T in SERPINC1, thrombophilia, and atresia of the IVC system and indicate that even heterozygosity for c.391C > T may contribute to such anomalies. ATD detection was hampered by the varying sensitivity of methods used for AT activity measurement.

Budapest nephrology school - 30 years of history - from modest start to an international success: systematic summary of the 27th BNS held between 28th August and 2nd of September 2023.

Budapest Nephrology School (BNS) could have celebrated its 30th event if it had not been interrupted by COVID pandemic for a few years. Yet, the organization of 27th BNS in August 2023 resumed its successful and traditional activities at Semmelweis University, in the beautiful central European city of Budapest. In over two decades, BNS has faithfully adapted to the changes and developments of medical science and clinical nephrology, the fact which has kept it unique and attractive for nephrologists from across the globe. With such a long history and representing the top international professors of nephrology, BNS has proved to be a successful one-week, in-person refreshing course which has attracted over 1600 medical doctors from more than 60 countries. It has well served as an academic meeting point suitable for networking and exchange of up-to-date knowledge presented by the best international experts in nephrology. The dedication and focus of these experts on education, research and patient care represent the very concept of translational medicine. The invaluable experience of the past 27 years has set the standards for BNS to contribute to the evolution of translational nephrology in Europe in the next decade.

Clinical results of lumbar sympathetic blocks in lower limb complex regional pain syndrome using infrared thermography as a support tool.

AIM: To describe the clinical outcomes for a group of complex regional pain syndrome patients using infrared thermography as an intraprocedural support tool when undertaking fluoroscopy-guided lumbar sympathetic blocks. SUBJECTS: 27 patients with lower limb complex regional pain syndrome accompanied by severe pain and persistent functional impairment. METHODS: A series of three fluoroscopic-guided lumbar sympathetic blocks with local anesthetic and corticoids using infrared thermography as an intraprocedural support tool were performed. Clinical variables were collected at baseline, prior to each block, and one, three, and six months after blocks in a standardized checklist assessing each of the clinical categories of complex regional pain syndrome stipulated in the Budapest criteria. RESULTS: 23.75% of the blocks required more than one chance to achieve the desired thermal pattern and therefore to be considered as successful. A decrease in pain measured on a visual analogic scale was observed at all time points compared to pre-blockade data, but only 37% of the cases were categorized as responders, representing a ≥ 30% decrease in VAS, with the disappearance of pain at rest. An improvement of most of the clinical variables recorded was observed, such as tingling, edema, perception of thermal asymmetry, difference in coloring and sweating. There was a significant decrease of neuropathic pain and improvement of functional limitation. Logistic regression analysis showed the main variable to explain the probability of being a responder was immobilization time (odds ratio of 0.89). CONCLUSION: A series of fluoroscopy-guided lumbar sympathetic blocks controlled by infrared thermography in the treatment of lower limb CRPS showed a responder rate of 37%.

Academic relationships between Hungarian professors and the Second Vienna Medical School.

This article discusses the impact of the 'second' Vienna Medical School, hallmarked by Karl Rokitansky, Joseph Skoda and Ferdinand Hebra, on the study and practice of medicine in Hungary. Six medical doctors' lives and achievements are outlined, who formed a bridge between Vienna and Budapest through their studies and work. Four of them returned to Hungary and promoted the cause of medicine and medical education there. Lajos Arányi (1812-1877) founded in 1844 the Institute of Pathology at the University of Pest. János Balassa (1814-1868) took the Chair of the Surgical Department. Ignaz Philip Semmelweis (1818-1865), the 'Saviour of Mothers', received a position at the Department of Obstetrics and Gynaecology in Vienna in 1846. Gustav Scheuthauer (1832-1894) became Arányi's successor. Each of them continued to keep contact with their tutors in Vienna, especially with Karl Rokitansky, and followed the clinicopathological conception pioneered by the Vienna Medical School regarding diagnostics, treatment and prevention of diseases. Two physicians remained in Vienna: Mór Kaposi (1837-1902), who became known worldwide posthumously due to the connection between Kaposi's sarcoma and AIDS, was the director of the Department of Dermatology of the Vienna University in 1878. Salomon Stricker (1837-1898) undertook the leadership of the Department of General and Experimental Pathology in 1872.

Supervision for our times: countertransference and the rich legacy of the Budapest School.

In this paper I ask what an investigation of the Budapest model of supervision may add to our psychoanalytic imagination. The Budapest model confronts us with a number of crucial questions for contemporary psychoanalysis, including the question of envisioning ways of working on the countertransference of the analyst. I discuss the lack of memory that surrounds the Budapest model, and I read it in relation to the unsettling issues it stirs up, including those of authority, horizontality, and the ethics of psychoanalysis. In the Budapest model, supervision can be seen as a form of "double dreaming" or of "dreaming up of a dream". In particular, in drawing on the writings of Sándor Ferenczi and Michael Balint, I point to some principles behind the Budapest model and to the epistemic, technical, and ethical implications of their ideas. I also work toward a Ferenczian "translation" of the idea of "parallel process".

Complex Regional Pain Syndrome, Current Concepts and Treatment Options.

PURPOSE OF REVIEW: Complex regional pain syndrome (CRPS) refers to a chronic pain condition that is characterized by progressively worsening spontaneous regional pain without dermatomal distribution. The symptomatology includes pain out of proportion in time and severity to the inciting event. The purpose of this review is to present the most current information concerning epidemiology, diagnosis, pathophysiology, and therapy for CRPS. RECENT FINDINGS: In recent years, discovery of pathophysiologic mechanisms of CRPS has led to significant strides in the understanding of the disease process. Continued elucidation of the underlying pathophysiological mechanisms will allow for the development of more targeted and effective evidence-based therapy protocols. Further large clinical trials are needed to investigate mechanisms and treatment of the disorder.

[Complex regional pain syndrome]. / Komplexes regionales Schmerzsyndrom.

Complex regional pain syndrome (CRPS) is not a very common yet typical complication of extremity trauma in the daily practice of a trauma surgeon. The pathophysiology of this puzzling disease is still not completely understood and its impact on the patient cannot be overestimated. However, advantages have been made in diagnostics and therapy. While a multitude of different diagnostic systems has led to confusion in the past, we now have an internationally accepted, validated and easy to reproduce diagnostic algorithm in the form of the Budapest criteria. The adequate therapy is still a field for debate, but there is now a broad choice of conservative and interventional treatments for the out- and inpatient setting.

[Complex regional pain syndrome following distal fractures of the radius : Epidemiology, pathophysiological models, diagnostics and therapy]. / Komplexes regionales Schmerzsyndrom nach distaler Radiusfraktur : Aktuelle Epidemiologie, pathophysiologische Modelle, Diagnostik und Therapie.

The complex regional pain syndrome (CRPS) still represents an incompletely etiologically understood complication following fractures of the distal radius. The incidence of CRPS following fractures of the distal radius varies between 1 % and 37 %. Pathophysiologically, a complex interaction of inflammatory, somatosensory, motor and autonomic changes is suspected, leading to a persistent maladaptive response and sensitization of the central and peripheral nervous systems with development of the corresponding symptoms. Decisive for the diagnostics are a detailed patient medical history and a clinical hand surgical, neurological and pain-related examination with confirmation of the Budapest criteria. Among the types of apparatus used for diagnostics, 3­phase bone scintigraphy and temperature measurement have a certain importance. A multimodal therapy started as early as possible is the most promising approach for successful treatment. As part of a multimodal rehabilitation the main focus of therapy lies on pain relief and functional aspects.

Characteristics of complex regional pain syndrome in patients referred to a tertiary pain clinic by community physicians, assessed by the Budapest clinical diagnostic criteria.

OBJECTIVE: The aim of this study was to describe the characteristics of patients referred with complex regional pain syndrome (CRPS) diagnosis to a tertiary care pain center. METHOD: Descriptive chart review study of all patients referred by family physicians or community specialists as having CRPS (2006-2010). Data extraction included demographics, pain ratings, and diagnosis utilizing the Budapest CRPS criteria. RESULTS: The study population consisted of 54 subjects (male [M] =7, female [F] =47). Only 27.7% were classified as CRPS by the clinical expert. Four additional subjects carrying other diagnoses but found to have CRPS were added to the analysis. The non-CRPS group consisted of 39 subjects (M=8, F=31) and the CRPS group of 19 (M=2, F=17). CRPS patients were statistically significantly more likely to 1) have suffered a fracture; 2) report symptoms in each of the four symptom categories, as well as signs in three or four categories collectively; and 3) have allodynia/hyperalgesia alone or in combination (85/90%) as compared with the non-CRPS group (23/25%, respectively). The non-CRPS group was much more likely to report no symptoms or signs at all in the different symptom and sign categories. Of the 39 non-CRPS patients, 74% had other diagnosable entities (1/3 suffering from specific neuropathic pain conditions, e.g., radiculopathy, diabetic neuropathy, etc. and 2/3 from discreet musculoskeletal entities), while 18% were diagnosed with psychogenic pain disorders including conversion reaction associated with immobility or paralysis. DISCUSSION: Besides fulfilling the Budapest CRPS diagnostic criteria, the most important other factor for diagnosing CRPS is the exclusion of a neuropathic, musculoskeletal, or non-biomedical condition accounting for the presentation.

Postoperative Medial Plantar and Sural Neuropathy With Complex Regional Pain Syndrome.

This case illustrates a distinct presentation of coexistent medial plantar and sural neuropathy leading to the development of complex regional pain syndrome (CRPS) in a 49-year-old male patient. CRPS is a broad medical diagnosis describing prolonged and excessive pain that is out of proportion to exam and has historically been diagnosed according to the Budapest criteria. To our knowledge, this is a rare report of a case of medial plantar and sural neuropathy further complicated with CRPS, status-post calcaneal fracture, surgery, and post-surgical boot placement. The case highlights the complexity of diagnosing and managing multiple concurrent neuropathies and underscores the need for interdisciplinary approaches in treating CRPS to improve patient outcomes.

A brief review of complex regional pain syndrome and current management.

Complex regional pain syndrome (CRPS) is a debilitating chronic pain condition that, although exceedingly rare, carries a significant burden for the affected patient population. The complex and ambiguous pathophysiology of this condition further complicates clinical management and therapeutic interventions. Furthermore, being a diagnosis of exclusion requires a diligent workup to ensure an accurate diagnosis and subsequent targeted management. The development of the Budapest diagnostic criteria helped to consolidate existing definitions of CRPS but extensive work remains in identifying the underlying pathways. Currently, two distinct types are identified by the presence (CRPS type 1) or absence (CRPS type 2) of neuronal injury. Current management directed at this disease is broad and growing, ranging from non-invasive modalities such as physical and psychological therapy to more invasive techniques such as dorsal root ganglion stimulation and potentially amputation. Ideal therapeutic interventions are multimodal in nature to address the likely multifactorial pathological development of CRPS. Regardless, a significant need remains for continued studies to elucidate the pathways involved in developing CRPS as well as more robust clinical trials for various treatment modalities.

Complex regional pain syndrome (CRPS) is a debilitating and complex condition that places a significant physical, psychological and emotional burden upon afflicted patients necessitating multi-modal approaches to treatment.The development of the Budapest criteria provided a robust and well-tested set of diagnostic criteria to aid clinicians in the diagnosis of CRPS.The pathophysiology of CRPS has been challenging to elucidate with numerous proposed mechanisms, altogether suggesting a multi-factorial process is involved in the development of this condition.Non-invasive treatments for CRPS are essential in addressing the physical limitations this disease can cause as well as addressing the significant psychological burden that involves increased incidence of depression and suicidal ideation.Invasive treatments offer promising results, especially when considering dorsal root ganglion stimulation; however, the need for more robust clinical trials remains, especially when considering a small portion of patients who have refractory CRPS resort to amputation to control their pain symptoms.

Comparison of Epidemiological Data of Complex Regional Pain Syndrome (CRPS) Patients in Relation to Disease Severity-A Retrospective Single-Center Study.

A retrospective data analysis of 159 complex regional pain syndrome (CRPS) patients (n = 116 women, 73.0%, mean age 60.9 ± 14.4 years; n = 43 men, 27.0%, mean age 52.3 ± 16.7 years) was performed from 2009 to 2020. The right side was affected in 74 patients (46.5%), the left in 84 patients (52.8%), and 1 patient (0.7%) developed a bilateral CRPS. Data were analyzed for the frequency and distribution of symptoms. The number of reduction maneuvers and the number of Budapest criteria were compared in relation to the severity of CRPS. Hand and wrist (n = 107, 67.3%), followed by foot and ankle (n = 36, 22.6%) and other locations (n = 16, 10.1%) were mainly affected by CRPS. The main causes included direct trauma (n = 120, 75.5%), surgery without previous trauma (n = 25, 15.7%), other causes (n = 9, 5.7%), and spontaneous development (n = 3, 1.9%); there was also missing documentation (n = 2, 1.3%). The most common symptoms were difference in temperature (n = 156, 98.1%), limitation of movement (n = 149, 93.7%), and swelling (n = 146, 91.8%). There was no correlation between the number of reduction maneuvers and the number of Budapest criteria. In summary, patients with the following constellation are at increased risk of CRPS: a female, over 60 years old, who has fallen and has sustained a fracture in the hand or wrist with persistent pain and has been immobilized with a cast for approx. 4 weeks.

The utility of using Volunteered Geographic Information (VGI) for evaluating pluvial flood models.

Pluvial floods are increasingly threatening urban environments worldwide due to human-induced climate change. High-resolution, state-of-the-art pluvial flood models are urgently needed to inform climate change adaptation and disaster risk reduction measures but are generally not empirically tested because of the rarity of local high-intensity precipitation events and the lack of monitoring capabilities. Volunteered Geographic Information (VGI) collected by professionals, non-professionals and citizens and made available on the internet can be used to monitor the dynamic extent of a pluvial flood during and after an extreme rain event but is sometimes considered to be unreliable. In this paper, we explore the general utility of VGI to evaluate the performance of pluvial flood models and gain new insights to improve these models. As background for our research, we use the capital city of Budapest, which recently suffered three heavy rainfall events in just five years (2015, 2017 and 2020). For each pluvial flood event, we collected photographic evidence from different online media sources and estimated the associated water depths at various locations in the city from the image context. These were compared with the results of a 2D pluvial flood model that has been shown to provide comparable results to other state-of-the-art inundation models and is easily transferred to other urban areas due to its reliance on open data sources. We introduce a general methodology for comparing VGI with model data by probing different spatial resolutions. Our findings highlight untapped potential and fundamental challenges in using VGI for model evaluation. It is proposed that VGI may become an essential tool and improve the confidence in model-based risk assessments for climate change adaptation and disaster risk reduction.

Managing Chronic Regional Pain Syndrome: The Potential Impact of the Food and Drug Omnibus Reform Act.

Complex regional pain syndrome (CRPS) is a neurological disorder characterized by persistent limb symptoms. With there being no definitive tests, diagnosis can be challenging. The Budapest criteria are the standard for diagnosis. The underlying mechanisms of CRPS involve changes in skin innervation, sensitization of the nervous system, inflammatory cytokines, and genetic and psychological factors. Treatment typically involves a multidisciplinary approach. We present a case of a 71-year-old male with CRPS involving the right upper extremity and a complex history of management including physical therapy, oxycodone, muscle relaxers, non-steroidal anti-inflammatory drugs, and multiple stellate ganglion blocks. The patient manages his pain with off-label medications, including methadone, duloxetine, and pregabalin. In the United States, the management of chronic pain may be affected by potential usage restrictions imposed by the Food and Drug Omnibus Reform Act (FDORA). Under this new act, physicians may face limitations in prescribing off-label medications for specific diagnoses. We aim to highlight the need for prioritizing patient care and individualized treatment in healthcare policy decision-making.

Severity of behavioral addiction symptoms among young adults using non-prescribed sedatives/hypnotics.

Introduction: Young adulthood is considered a critical period in terms of non-medical use of sedatives/hypnotics (NMUSH) as well as different types of behavioral addictions (BAs). However, the relationship between these behaviors has received scarce attention among young adult samples. Therefore, the aim of the present study was to investigate the association between NMUSH and symptoms of distinct BAs among young adults. Materials and methods: Analyses were conducted based on the data of two large sample studies (including a representative sample) carried out with young adult samples. The following BAs were assessed: problematic internet use, problematic video gaming, problematic social media use, problem gambling, exercise addiction, eating disorders, compulsive buying behavior, problematic mobile phone use, work addiction, and hair pulling. Symptoms of distinct BAs were analyzed in three groups formed based on the NMUSH: non-users, lifetime users, and current users. Results: The symptoms of problematic internet use, problematic social media use, problem gambling, exercise addiction, eating disorders, compulsive buying behavior and work addiction were significantly more severe among lifetime and/or current non-medical sedative and hypnotic users, compared to the non-user participants. The symptoms of problematic mobile phone use were the most severe in the non-user group. Conclusions: The results suggest co-occurrence between NMUSH and distinct BAs among young adults. These findings draw attention to the need for preventive interventions for this high-risk population.

"I Know That My Redeemer Liveth": Schreber and the Matter of Music.

For Imre Hermann, a central figure of Hungarian psychoanalysis, the aesthetic relation to music, entailing an objectless, affect-laden situation, offers a privileged point for understanding infantile sexuality and its reemergence in regressive states. Schreber's Memoirs of My Nervous Illness, a text permeated with music, drew Hermann's interest as a model for comprehending psychotic regression. Building upon Hermann's observations, it is argued that music becomes a contested means to give form to affect where language is compromised. Within the throes of psychotic regression where there is no third and representation is experienced as violent and perverse, the aesthetic relation becomes a means of survival.

Progression and variation of competitive 100 and 200m performance at the 2021 European Swimming Championships.

Competitive progressions are necessary to ensure that peak performance occurs when medals are decided. This study aimed to: i) study the coefficient of variation (CV) and performance changes (%Δ) among swimmers who participated in different rounds (i.e., heats, semi-finals and finals); ii) study the CV changes as a function of FINA-points. A total of 1447 performances were analysed in the 100 and 200 m-races during the Budapest 2021 European-Championships. Linear mixed-effects models were applied for total and split-times to obtain intra-athlete CV and %Δ. The FINA-points were studied with two-way ANOVA and Pearson's correlation assessed the relations with CV. The CV in 100 m-races was: 0.48 ± 0.21% for males and 0.50 ± 0.20% for females (Δ = -0.66%); in 200 m-races: 0.63 ± 0.36% and 0.60 ± 0.34% (Δ = -0.82%). There were differences in FINA-points between strokes and distances (p < 0.02) associated with higher CV for the 200 m-races (r = 0.37; p = 0.003), indicating changes in performance over the rounds. Swimmers' finalists performed easier during the heats by going slower in the first 50 m-lap; however, some of them would have little chance of qualifying during major championships because some events were below FINA-points world-standards.

The Budapest Amyloid Predictor and Its Applications.

The amyloid state of proteins is widely studied with relevance to neurology, biochemistry, and biotechnology. In contrast with nearly amorphous aggregation, the amyloid state has a well-defined structure, consisting of parallel and antiparallel ß-sheets in a periodically repeated formation. The understanding of the amyloid state is growing with the development of novel molecular imaging tools, like cryogenic electron microscopy. Sequence-based amyloid predictors were developed, mainly using artificial neural networks (ANNs) as the underlying computational technique. From a good neural-network-based predictor, it is a very difficult task to identify the attributes of the input amino acid sequence, which imply the decision of the network. Here, we present a linear Support Vector Machine (SVM)-based predictor for hexapeptides with correctness higher than 84%, i.e., it is at least as good as the best published ANN-based tools. Unlike artificial neural networks, the decisions of the linear SVMs are much easier to analyze and, from a good predictor, we can infer rich biochemical knowledge. In the Budapest Amyloid Predictor webserver the user needs to input a hexapeptide, and the server outputs a prediction for the input plus the 6 × 19 = 114 distance-1 neighbors of the input hexapeptide.

Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods.

Antithrombin (AT) is a serine protease inhibitor, its activity is highly accelerated by heparin. Mutations at the heparin-binding region lead to functional defect, type II heparin-binding site (IIHBS) AT deficiency. The aim of this study was to investigate and compare the molecular background of AT Budapest 3 (p.Leu131Phe, ATBp3), AT Basel (p.Pro73Leu), and AT Padua (p.Arg79His) mutations. Advanced in silico methods and heparin-binding studies of recombinant AT proteins using surface plasmon resonance method were used. Crossed immunoelectrophoresis and Differential Scanning Fluorimetry (NanoDSF) were performed in plasma samples. Heparin affinity of AT Padua was the lowest (KD = 1.08 × 10-6 M) and had the most severe consequences affecting the allosteric pathways of activation, moreover significant destabilizing effects on AT were also observed. KD values for AT Basel, ATBp3 and wild-type AT were 7.64 × 10-7 M, 2.15 × 10-8 M and 6.4 × 10-10 M, respectively. Heparin-binding of AT Basel was slower, however once the complex was formed the mutation had only minor effect on the secondary and tertiary structures. Allosteric activation of ATBp3 was altered, moreover decreased thermostability in ATBp3 homozygous plasma and increased fluctuations in multiple regions of ATBp3 were observed by in silico methods suggesting the presence of a quantitative component in the pathogenicity of this mutation due to molecular instability.

Space use of wild boar (Sus Scrofa) in Budapest: are they resident or transient city dwellers?

In our study, we examined the movement of two wild boars marked with GPS/GSM transmitters in city of Budapest. We hypothesised that: the wild boars do not leave the urban area (H1); the wild boars prefer places that are less disturbed by people, and which are rich in potential hiding places (H2); and their home ranges would be smaller than that of wild boars living in non-urban environment (H3). Based on our results, we accepted our first hypothesis, as the wild boars had not left the area of Budapest. However, we partly rejected our second hypothesis: the wild boars preferred urban areas that were forested and richly covered with vegetation; however, human presence therefore disturbance was also high in those areas. The home range sizes of both marked wild boar sows were remarkably smaller than those of the wild boars living in natural environment (H3). City habitat modification, e.g. clearing undergrowth vegetation, could result that wild boars cannot find any hiding places. The significant part of food sources will disappear with the elimination of these places. By eliminating the two main factors together could prevent wild boars finding their living conditions within the city.