Classic Syndrome Research Articles

Real world application of the 2023 ACR/EULAR antiphospholipid antibody syndrome classification criteria in a pharmacist directed anticoagulation clinic.

To determine the number of patients that met classification for antiphospholipid antibody syndrome (APS) after applying the 2023 American College of Rheumatology and the European Alliance for Associations of Rheumatology (ACR/EULAR) classification criteria, to identify reasons patients did not meet the new criteria, and determine the number of patients who were single, double, or triple positive based on laboratory criteria. A single center, retrospective chart review of patients with APS on anticoagulation managed by ambulatory care clinical pharmacists. Data collected included patient demographics, type of anticoagulation, and clinical and laboratory criteria for APS as defined by the 2023 ACR/EULAR criteria. Data is presented using descriptive statistics. A total of 51 patients previously diagnosed with APS were included. There were 42 patients on warfarin (82.3%), 4 patients on direct oral anticoagulants (19%), 3 patients on low molecular weight heparin (5.8%), and 2 patients on fondaparinux (3.9%). Of the 51 patients, 12 (23.5%) met classification criteria, 33 (64.7%) did not meet classification criteria and 6 (11.7%) had insufficient data. Of the 27 patients that did not meet criteria, 13 patients did not meet the laboratory criteria (39.4%), 6 patients did not meet the clinical criteria (18.2%) and 14 patients did not meet both laboratory and clinical criteria (42.4%). Of the 12 patients that met classification criteria, 2 patients were triple positive (16.7%), 3 were double positive (25%), and 7 were single positive (58.3%). Results from this study indicate that APS continues to be a complex disease state with challenges in diagnosis and classification. Since only a small number of patients in our clinic continued to meet the classification criteria, opportunities for patient re-evaluation of management strategies at our institution could be considered.

Спадкові нейрошкірні синдроми (факоматози) — огляд літератури

The article summarizes the issues of modern classification, clinical course, manifestations, diagnosis and symptomatic treatment of hereditary neurocutaneous syndromes — phakomatoses.

Characteristics of Gut Microbiome in the Murine Model of Pancreatic Cancer with Damp-Heat Syndrome.

Murine models of pancreatic cancer with damp-heat syndrome were established based on two methods to explore the differences in the composition of intestinal flora and to seek characteristic genera with potential for model evaluation. In our study, thirty-four C57BL/6J male mice were randomly divided into a control group (Con), a model group (Mod), a classic damp-heat syndrome group (CDHS), and a climate-chamber group (CC). CDHS and CC groups were fed with a high-fat diet and glucose water, while the CDHS group was given 2.4 g/kg alcohol by gavage for 10 days, and the CC group was placed in a climatic chamber with a set temperature of (32 ± 1) °C and humidity of (92 ± 2)% for 10 days. The Mod group, CDHS group, and CC group underwent tumor-building experiments on day 11. Tumorigenicity was then assessed twice a week. After 4 weeks, feces, colon tissue, and tumor tissue were taken from the mice and were tested, and the mice were euthanized afterwards. Mice in the CDHS and CC groups showed symptoms similar to the clinical damp-heat syndrome observed in traditional Chinese medicine (TCM), and exhibited a worse general condition and more rapid tumor growth trend than those in the Mod group. The pathological examination indicated that inflammation was prevalent in the CDHS and CC groups. Both groups had a disrupted intestinal barrier and an overgrowth of pathogenic bacteria such as c_Gammaproteobacteria, o_Enterobacteriales, and g_Bacteroides. Their microbiota composition showed greater diversity. Intestinal flora may have a promising future in the discovery of indicators for evaluating a model of damp-heat syndrome in pancreatic cancer.

9220 Machine Learning Methods In Differential Diagnosis Of Genetically Confirmed Multiple Endocrine Neoplasia Type 1 And Its Phenocopies

Abstract Disclosure: D. Trukhina: None. K. Voronov: None. E. Mamedova: None. A. Solodovnikov: None. Z. Belaya: None. Background. MEN-1 is a rare autosomal dominant disorder caused by mutations in the MEN1 gene encoding the menin protein (gMEN1). This syndrome is characterised by the occurrence of parathyroid tumours, gastroenteropancreatic neuroendocrine tumours, pituitary adenomas, and other endocrine and non-endocrine neoplasms. If a patient with the MEN-1 phenotype does not have any mutation in the MEN1 gene, the condition is considered a phenocopy of the syndrome (phMEN1). The goal of this study was to develop a machine learning algorithm to estimate the probability of gMEN-1 vs phMEN-1 based on easily available clinical features at first line differential diagnostics. Materials and methods. A single-center, one-stage, cohort, retrospective study was carried out. Patients were randomly stratified into 2 cohorts: training (80%) and test (20%). Eight machine learning algorithms were used to develop predictive models: Logistic Regression, k-nearest neighbors (kNN), Naive Bayes, binary decision tree (CART), C5.0 decision tree algorithms, Bagged CART, Random Forest, Gradient Boosting (Stochastic Gradient Boosting, GBM). Results. The study included 95 patients with genetically confirmed gMEN-1 syndrome and 60 patients with its phenocopies. As a result of preliminary data processing and selection for the most informative features, the final variables for the classification and prediction of gMEN-1 syndrome were identified: the number of affected parathyroid glands, age at diagnostics, pancreatic tumour existence, heredity, type of pituitary adenoma secretion, and gender. The kNN algorithm demonstrated the best diagnostic performance in a training sample (ROC-AUC - 0.96, sensitivity - 84%, specificity - 100%), which was confirmed in a test sample (ROC-AUC - 1.0; sensitivity - 94.4%, specificity - 100%) to determine genetically confirmed MEN-1 syndrome. Conclusion. The k-nearest neighbours (kNN) algorithm may be used as a first-line differential diagnostics method to select patients to be refered for genetic testing for gMEN-1. Presentation: 6/1/2024

7845 Machine Learning Methods In Differential Diagnosis Of Genetically Confirmed Multiple Endocrine Neoplasia Type 1 And Its Phenocopies

Abstract Disclosure: D. Trukhina: None. K. Voronov: None. E. Mamedova: None. A. Solodovnikov: None. Z. Belaya: None. Background. MEN-1 is a rare autosomal dominant disorder caused by mutations in the MEN1 gene encoding the menin protein (gMEN1). This syndrome is characterised by the occurrence of parathyroid tumours, gastroenteropancreatic neuroendocrine tumours, pituitary adenomas, and other endocrine and non-endocrine neoplasms. If a patient with the MEN-1 phenotype does not have any mutation in the MEN1 gene, the condition is considered a phenocopy of the syndrome (phMEN1).The goal of this study was to develop a machine learning algorithm to estimate the probability of gMEN-1 vs phMEN-1 based on easily available clinical features at first line differential diagnostics. Materials and methods. A single-center, one-stage, cohort, retrospective study was carried out. Patients were randomly stratified into 2 cohorts: training (80%) and test (20%). Eight machine learning algorithms were used to develop predictive models: Logistic Regression, k-nearest neighbors (kNN), Naive Bayes, binary decision tree (CART), C5.0 decision tree algorithms, Bagged CART, Random Forest, Gradient Boosting (Stochastic Gradient Boosting, GBM). Results. The study included 95 patients with genetically confirmed gMEN-1 syndrome and 60 patients with its phenocopies. As a result of preliminary data processing and selection for the most informative features, the final variables for the classification and prediction of gMEN-1 syndrome were identified: the number of affected parathyroid glands, age at diagnostics, pancreatic tumour existence, heredity, type of pituitary adenoma secretion, and gender. The kNN algorithm demonstrated the best diagnostic performance in a training sample (ROC-AUC - 0.96, sensitivity - 84%, specificity - 100%), which was confirmed in a test sample (ROC-AUC - 1.0; sensitivity - 94.4%, specificity - 100%) to determine genetically confirmed MEN-1 syndrome. Conclusion. The k-nearest neighbours (kNN) algorithm may be used as a first-line differential diagnostics method to select patients to be refered for genetic testing for gMEN-1. Presentation: 6/1/2024

8623 Atypical VHL Genetic Variant Causing Paraganglioma

Abstract Disclosure: G. Mangu: None. J.J. Faria Briceno: None. R. Yatavelli: None. Abstract: Pheochromocytomas and paragangliomas (PPGLs) are rare chromaffin cell tumors that originate from the adrenal medulla and extra-adrenal paraganglia respectively. Previous studies have shown that incidental PPGLs are seen in older patients with mild symptoms. They have lower levels of plasma catecholamines and lower incidence of malignancy than patients with nonincidental PPGLs. We report a case of an incidental paraganglioma in a young female with atypical pathogenic variant in the VHL gene which is known to cause familial erythrocytosis but NOT VHL syndrome or PPGL. Case Presentation: A 33-year-old African American female with no significant medical history presented to the emergency room with the chief complaint of right lower quadrant pain for 2 days, which started with her menstruation. The vitals were BP 128/67, pulse 67 and physical examination was unremarkable. CT showed a 4.0 x 3.0 cm heterogenous enhancing left adrenal mass and MRI with adrenal protocol revealed 3.4 x 3.1 cm mass consistent with pheochromocytoma. Labs revealed elevated plasma nor metanephrines and 24-hour urine normetanephrines were 1020 mcg. She was asymptomatic without hypertension, palpitations, or chest pain. She underwent laparoscopic left adrenalectomy after appropriate alpha blockade. The pathology report showed left periadrenal paraganglioma with immunohistochemistry staining significant for Carbonic anhydrase IX (CAIX) membranous expression which is mostly seen in paragangliomas associated with von Hippel-Lindau syndrome. Clinically, she did not have any stigmata for hereditary PPGL syndrome. Her genetic testing revealed a pathogenic heterozygous variant in the VHL gene, Exon 3, c.598C.T (pArg200Trp), which is a missense variant expected to disrupt VHL protein function. Although she has a germline mutation in VHL, it is not the garden variant which is associated with classic VHL syndrome. It has been reported to cause autosomal recessive erythrocytosis but not PPGL. Conclusion: The pathogenic heterozygous variant in VHL gene, Exon 3, c.598C.T (pArg200Trp) is known to cause autosomal recessive familial erythrocytosis type 2 in the Chuvash population, termed as Chuvash Polycythemia. Our patient did not have polycythemia but had iron deficiency anemia from menorrhagia. Several studies have reported that this variant does not cause VHL syndrome, however it has been reported in a single family with VHL syndrome but WITHOUT pheochromocytoma. To our knowledge, incidental adrenergic paraganglioma associated with this mutation has not been reported in the literature. Presentation: 6/3/2024

ECG classification based on guided attention mechanism

Background and ObjectiveIntegrating domain knowledge into deep learning models can improve their effectiveness and increase explainability. This study aims to enhance the classification performance of electrocardiograms (ECGs) by customizing specific guided mechanisms based on the characteristics of different cardiac abnormalities. MethodsTwo novel guided attention mechanisms, Guided Spatial Attention (GSA) and CAM-based spatial guided attention mechanism (CGAM), were introduced. Different attention guidance labels were created based on clinical knowledge for four ECG abnormality classification tasks: ST change detection, premature contraction identification, Wolf-Parkinson-White syndrome (WPW) classification, and atrial fibrillation (AF) detection. The models were trained and evaluated separately for each classification task. Model explainability was quantified using Shapley values. ResultsGSA improved the F1 score of the model by 5.74%, 5%, 8.96%, and 3.91% for ST change detection, premature contraction identification, WPW classification, and AF detection, respectively. Similarly, CGAM exhibited improvements of 3.89%, 5.40%, 8.21%, and 1.80% for the respective tasks. The combined use of GSA and CGAM resulted in even higher improvements of 6.26%, 5.58%, 8.85%, and 4.03%, respectively. Moreover, when all four tasks were conducted simultaneously, a notable overall performance boost was achieved, demonstrating the broad adaptability of the proposed model. The quantified Shapley values demonstrated the effectiveness of the guided attention mechanisms in enhancing the model's explainability. ConclusionsThe guided attention mechanisms, utilizing domain knowledge, effectively directed the model's attention, leading to improved classification performance and explainability. These findings have significant implications in facilitating accurate automated ECG classification.

The Validation of the 2023 ACR/EULAR Antiphospholipid Syndrome Classification Criteria in a Cohort from Turkey.

Our aim was to validate the performance of the American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) classification criteria for antiphospholipid syndrome (APS), published in 2023, in an APS cohort. A total of 193 patients, 83 with APS (secondary APS, n = 45; primary APS, n = 38) and 110 without APS (systemic lupus erythematosus (SLE), n = 100; others, n = 10), were included in this study. The performance (sensitivity, specificity and area under the curve (AUC)) of the 2023 ACR/EULAR classification criteria for APS was evaluated and the agreement with the revised Sapporo criteria was compared using the kappa test. In our cohort, the sensitivity and specificity of the 2023 ACR/EULAR classification criteria for APS were 73% and 94%, respectively (AUC: 0.836, 95% CI: 0.772-0.899), while the sensitivity and specificity of the revised Sapporo criteria were 66% and 98%, respectively (95% CI: 0.756-0.888). The performance of the two sets of criteria in our cohort was significantly consistent and significant (p < 0.001). When the sensitivity, specificity and ROC curve analysis were performed again by excluding livedo racemosa, the sensitivity of the new criteria in our cohort was 62% and the specificity was 100% (AUC: 0.813, 95% CI: 0.746-0.881). Although the newly published criteria broaden the scope of APS classification by including clinical findings other than thrombosis and obstetric criteria, their sensitivity in our cohort was low. On the other hand, we found that the specificity of the criteria in our cohort reached 100% when livedo findings were excluded.

Practical Assessment of Neuropsychiatric Symptoms: Updated Reliability, Validity, and Cutoffs for the Neuropsychiatric Inventory Questionnaire

ObjectivesTo improve assessment of neuropsychiatric symptoms (NPS) by expanding the measurement properties of the Neuropsychiatric Inventory Questionnaire (NPI-Q). DesignMulticenter, longitudinal observational study. SettingSeveral Alzheimer's Disease Research Centers (ADRCs). ParticipantsIndividuals who presented to an ADRC with a collateral and completed the NPI-Q. MeasurementsThe NPI-Q total severity score, four NPI-Q subscales, dementia stage, expert NPS rating, consensus rating of dementia syndrome, global cognitive screening, collateral rating of daily functioning, and self-rating of depression. ResultsThere was strong evidence of criterion validity with both dementia stage and expert NPS rating for the NPI-Q total severity index, which informed cutoffs and interpretive ranges. Furthermore, subscales had adequate classification of dementia syndromes and appropriate convergent relationships with cognition, daily functioning, and mood. There was good-to-excellent evidence of reliability for the NPI-Q total severity index over several years, and subscales had adequate-to-good reliability. ConclusionsThis is the first study to provide empirically established cutoffs, interpretive ranges, and evidence of reliability over a period longer than a month on the NPI-Q and its subscales. This will improve assessment of NPS in clinical and research contexts. Article SummaryNeuropsychiatric symptoms of neurodegeneration are increasingly understood as early disease markers with tremendous functional impact later in disease, but are often missed or misdiagnosed. The most common measure of these symptoms, the Neuropsychiatric Inventory Questionnaire (NPI-Q), does not have clinically actionable guidance, which this article provided. We established cutscores for several conditions and test-retest reliability over longer periods for the total score and subscales using a multicenter database.

Oxygenation Index, Oxygen Saturation Index vs PaO2/FiO2 *PEEP: A Secondary Analysis of OXIVA-CARDS Study.

The classification of Berlin definition is based on the PaO2/FiO2 ratio, which has been found to have a poor association with mortality. Airway pressures reflect lung compliance and the settings of mechanical ventilators. In this study, we aimed to investigate the change in the severity of COVID-19-associated acute respiratory distress syndrome (ARDS) classification using [PaO2/FiO2 × PEEP] (P/FP) ratio compared to the traditional P/F ratio, and whether the P/FP ratio improves the predictive validity of in-hospital mortality. Our study sample included patients from the OXIVA-CARDS study. In this secondary analysis, we examined the oxygenation index and oxygen saturation index in relation to the P/FP ratio, as well as the risk of P/FP in mortality. We used Pearson's correlation to assess the relationships between various parameters. Receiver operating characteristic analysis with Youden's index was used to compare the prognostic value of the oxygenation index (OI), oxygen saturation index (OSI), P/F ratio, P/FP ratio, and SaO2/FiO2 ratio for predicting overall mortality. Multiple logistic regression was also performed to determine the impact of mean airway pressure (Pmean), S/F ratio, OI, and P/FP ratio on mortality. A total of 201 patients (with 1543 measurements) were included in the analysis. Overall, 522 (34%) were reclassified into either more or less severe categories. Patients who were classified as having severe ARDS based on the P/FP ratio had significantly lower P/FP ratio, oxygenation index, and A-a O2 gradient as compared to those classified as having severe ARDS based on the P/F ratio (p < 0.05) at all levels of ARDS severity. On multivariate regression analysis, only the OI significantly impacted mortality (p < 0.05). We observed that the oxygen index and oxygen saturation index were more sensitive than the PaO2/FiO2 ratio and P/FP ratio. Additionally, only the oxygenation index had a significant impact on mortality. By including airway pressures in the calculation of the OI, its predictive ability is enhanced compared to using the S/F ratio, P/F ratio, or P/FP ratio. The sensitivity of mortality by including Pmean is higher as compared to when only PEEP is taken into consideration. P/FP is a weak predictor of mortality as compared to OI and OSI. Vadi SMR, Sanwalka N, Suthar D. Oxygenation Index, Oxygen Saturation Index vs PaO2/FiO2 *PEEP: A Secondary Analysis of OXIVA-CARDS Study. Indian J Crit Care Med 2024;28(10):917-922.

Surgical menopause and its management. Analysis of literature data and own data

The article presents the main clinical variants of the surgical menopause syndrome (SMS), provides modern views on the treatment of this pathology.The purpose of the study was to identify the features of the clinical course of SMS compared to the typical climacteric syndrome, to present modern views on its management, and to determine ways of prevention.To achieve this goal, a literature search and analysis was conducted in the PubMed scientometric database for the last 15 years, and domestic scientific publications related to the mechanisms of development, clinical course, and management of SMS were selected. At the current stage, there is a significant increase in the prevalence of uterine leiomyomas, as well as a tendency to increase the frequency of this pathology in young women. Given that 50% of uterine leiomyomas have symptomatic course, the number of surgical interventions for leiomyomas is also increasing.Hysterectomy occupies a significant place among operative interventions for benign tumors of the uterus and ovaries. As a result of hysterectomy (with or without oophorectomy) in women, SMS occurs. The main pathogenetic mechanism of SMS is hypoestrogeny. As a result, a symptom complex of menopausal disorders develops: vegetative-vascular, neuropsychic, metabolic and urogenital disorders. Compared to the classic climacteric syndrome, the clinical condition in surgical menopause is more acute and progresses faster.The management of SMS depends on the volume of surgical intervention, the age of the patient, and concomitant pathology. Treatment of SMS should be individualized and include the use of menopausal hormone therapy, herbal preparations, multivitamin complexes against the background of lifestyle modification.The prevention of SMS consists in the wide use of modern conservative and minimally invasive operations in the case of surgical treatment of benign tumors of the uterus and ovaries, a balanced approach to determining the volume of operations.

Research Progress on the Syndrome Differentiation and Treatment of Phlegm-Damp Type Polycystic Ovary Syndrome in Traditional Chinese and Western Medicine

Polycystic Ovary Syndrome (PCOS) is the most common endocrine disorder in women of childbearing age, with complex etiology and classification of traditional Chinese medicine syndromes, among which the phlegm-damp syndrome is the most prevalent. This article provides an overview of the common types and symptomatic characteristics of kidney deficiency type PCOS, the correlation with physicochemical indicators such as glucose and lipid metabolism levels, sex hormone indicators, inflammatory factor levels, as well as syndrome differentiation treatment and integrated traditional and Western medicine approaches, providing a certain scientific basis for clinical diagnosis and treatment.

GFAP expression in the brain during human postnatal development

AbstractGlial fibrillary acidic protein (GFAP) immunohistochemistry was investigated in the developing human brain using two measures; the number of GFAP‐positive cells (density, GFAP+/mm2), and a reactivity score (R‐score), which we recently introduced to indicate astrogliosis, with scores ≥120 indicative of pathological processes. The primary aim was to report on GFAP expression and cell soma size in 26 microscopically defined regions of the amygdala, basal ganglia, cerebellum, hippocampus and medulla, and to determine whether they are affected by postconceptional age (PCA) from 40 to 83 weeks. The secondary aim was to determine if GFAP expression differs according to the classification of sudden infant death syndrome (SIDS) as opposed to infant deaths of known causes, or for the presence of major SIDS risk factors of male sex, cigarette smoke exposure, upper respiratory tract infection (URTI), bed‐sharing and prone sleeping. The cerebellar molecular layer was void of GFAP+ cells, while the internal granular layer (IGL) had the highest density, with &gt;60% of infants having an R‐Score &gt;120. GFAP expression decreased with increasing PCA in the entorhinal and temporal cortex, subiculum and regions of the cerebellum and medulla. GFAP cell soma size corresponded with astrogliosis score and no effect of PCA was evident. Various region‐dependent GFAP expressional differences were seen according to SIDS classification and the risk factors studied. The findings indicate that the density of GFAP decreases in specific regions of the brain within the first year of postnatal development, and that reactive astrocytes are common, particularly within the early postnatal months.

The 2023 ACR/EULAR antiphospholipid syndrome classification criteria identify patients at high risk of complications.

This study aims to evaluate the utility of the 2023 ACR/EULAR antiphospholipid syndrome (APS) classification criteria in identifying primary APS patients at high risk of complications. In this single-center study, primary APS patients were classified according to both the revised Sapporo criteria and the 2023 ACR/EULAR criteria. The risk of complications was assessed using the adjusted Global Antiphospholipid Syndrome Score (aGAPSS). Forty-five patients (73% females, median age 49years) were included. Thirty-six patients met the 2023 ACR/EULAR criteria, all of whom also fulfilled the revised Sapporo criteria. Additionally, four out of nine patients not meeting the 2023 ACR/EULAR criteria satisfied the revised Sapporo criteria. Agreement rate between the two classification criteria was 91%, with a Cohen's kappa index of 0.66. Patients meeting the 2023 ACR/EULAR criteria had significantly higher aGAPSS scores compared to those who did not (13, 8-13 vs. 3, 0-5; p = 0.005). Furthermore, 55% of patients meeting the 2023 ACR/EULAR criteria were categorized as high risk based on aGAPSS scores, while those not meeting the criteria were predominantly categorized as low risk (77%). Interestingly, patients not meeting the 2023 ACR/EULAR criteria but fulfilling the revised Sapporo criteria had significantly higher aGAPSS scores compared to those not meeting either set of criteria (7, 5-13 vs. 0, 0-1.5; p = 0.015). The 2023 ACR/EULAR criteria effectively identify primary APS patients at increased risk of complications, as indicated by the aGAPSS score. Key Points • Identifying primary APS patients at high risk of complications remains a significant challenge. • The 2023 ACR/EULAR criteria show a correlation with the aGAPSS score, exhibiting the highest correlation with laboratory domains and minimal correlation with clinical domains. • The 2023 ACR/EULAR classification criteria are effective in identifying primary APS patients at high risk of complications.

Thrombosis of the superior vena cava in a patient with an implanted cardioverter–defibrillator: A case report

BACKGROUND: Superior vena cava syndrome results from the occlusion of blood flow in the superior vena cava due to external compression, internal obstruction, or infiltration of the vessel wall by a tumor. Although thrombotic complications caused by electrodes of cardiac implantable devices are uncommon in clinical practice, their incidence has been increasing due to the increasing need for such devices, which effectively correct the compromised electrical or mechanical functions of the heart chambers. CLINICAL CASE DESCRIPTION: Herein, we have presented a case of superior vena cava thrombosis syndrome in a patient who had undergone cardioverter–defibrillator implantation for dilated cardiomyopathy. We have discussed the classification of superior vena cava syndromes, its pathogenesis, and the types of collateral circulation. CONCLUSION: As observed in our patient, the concurrent presence of chronic heart failure syndrome can make it challenging to recognize superior vena cava syndrome in the early stages of diagnosis.

A case of paraprotein-negative POEMS syndrome: Case report and literature review.

POEMS syndrome is a rare monoclonal plasma cell disease. The diagnosis of POEMS requires polyradiculoneuropathy and monoclonal plasma proliferating as 2 mandatory criteria, at least 1 of the major criteria (Castleman disease, elevated vascular endothelial growth factor level, and sclerotic bone lesion), and at least 1 of the minor criteria (organomegaly, extravascular volume overload, endocrinopathy, skin changes, papilledema, and thrombocytosis/polycythemia). This multisystem disorder is of high heterogeneity, and few variants of POEMS with no evidence of monoclonal gammopathy have been described, which further complicates the diagnosis in clinical practice. Now, we report a case of paraprotein-negative POEMS syndrome. A 45-year-old woman complained of lower extremity edema, shortness of breath, abdominal distension, and lymphadenopathy for few years. Finally, she was diagnosed with paraprotein-negative POEMS syndrome. With the lenalidomide-based regimen, the symptoms were all relieved. Paraprotein-negative POEMS syndrome. Lenalidomide-based regimen and some supportive therapy. All symptoms were relieved after 1 year of treatment. Physicians should pay more attention to the POEMS syndrome, especially the POEMS syndrome variants, which are absence of paraprotein; probably, these variants are just "on the way" to classic POEMS syndrome antiplasma cell therapy, which remains the treatment of choice.

The Spectrum of Self-Limited Infantile Epilepsy Syndromes

AbstractInfantile epilepsy syndromes' nomenclature has changed over time. The International League Against Epilepsy (ILAE) revised its 2021 classification and definition of epilepsy syndromes in neonates and infants, replacing the term “benign” with “self-limited,” and now identifies them as “self-limited infantile epilepsy” (SeLIE). SeLIE is characterized by seizures that begin during infancy and resolve spontaneously with normal developmental progress. The recognition of infantile seizures with favorable outcomes dates back more than 60 years, as noted by Fukuyama in Japan. Thirty years later, Watanabe et al reported benign focal seizures in infancy, with the majority of cases being nonfamilial. These seizures' self-limited nature during infancy has since been acknowledged in various countries, spanning diverse ethnic populations beyond Japan. Infants who undergo such seizures are now recognized as having self-limited nonfamilial infantile epilepsy (SeLNFIE). Initially, Vigevano et al detailed the familial variant in five infants, coining the term “benign familial infantile seizures” to characterize this condition, now known as self-limited familial infantile epilepsy (SeLFIE). SeLNFIE and SeLFIE may present similarly with the exception of a positive family history. After the initial description and classification of these syndromes (familial and nonfamilial) in the ILAE's 1989 Classification of Epilepsies and Epileptic Syndromes, several less frequently encountered related syndromes have been recognized. These conditions comprise a spectrum including SeLFIE with choreoathetosis and paroxysmal dyskinesia, now termed infantile convulsions with paroxysmal choreoathetosis syndrome (ICCA); self-limited focal epilepsy in infancy with midline spikes and waves during sleep (SeLIMSE); self-limited infantile seizures with mild gastroenteritis (SeLISwG); SeLFIE associated with familial hemiplegic migraine (FHM); and self-limited familial neonatal-infantile epilepsy (SeLFNIE). This review aims to document the prevalence of these SeLIEs, elucidate their unique characteristics, and underscore their self-limited nature.

Application of the K-Nearest Neighbor Algorithm for Polycystic Ovarian Syndrome (PCOS) Classification: A Diagnostic Tool

Application of the K-Nearest Neighbor Algorithm for Polycystic Ovarian Syndrome (PCOS) Classification: A Diagnostic Tool

Bone aluminum accumulation in the current era.

In the last few years, evidence from the Brazilian Registry of Bone Biopsy (REBRABO) has pointed out a high incidence of aluminum (Al) accumulation in the bones of patients with CKD under dialysis. This surprising finding does not appear to be merely a passive metal accumulation, as prospective data from REBRABO suggest that the presence of Al in bone may be independently associated with major adverse cardiovascular events. This information contrasts with the perception of epidemiologic control of this condition around the world. In this opinion paper, we discussed why the diagnosis of Al accumulation in bone is not reported in other parts of the world. We also discuss a range of possibilities to understand why bone Al accumulation still occurs, not as a classical syndrome with systemic signs of intoxication, as occurred it has in the past.

Trades-offs between pollinator attraction and florivore defense maximize reproductive success in the self-incompatible Rivea ornata (Convolvulaceae)

BackgroundRivea ornata, a rare species from the morning glory family, exhibits uncommon characteristics compared to other typical morning glories, including nocturnal flowers that fit the classic moth pollination syndrome. However, the accuracy of its predicted pollination syndrome and its mating system have never been assessed. Additionally, R. ornata flowers attract not only pollinators but also florivores, potentially reducing plant reproductive success. Therefore, this study examined two populations of R. ornata in Thailand and assessed traits related to pollinator attraction and reward, determined its mating system, identified floral visitors and effective pollinators, and investigated the effect of florivory on reproductive success.ResultsRivea ornata is highly fertile but self-incompatible and an obligate outcrosser, rendering it highly dependent on pollinators. Lepidopterans, particularly nocturnal hawk moths, were found to account for a significant proportion of all visits and were the sole effective pollinators of this plant species, in correspondence with its predicted pollination syndrome. Surprisingly, florivory did not significantly reduce reproductive success. This phenomenon may be explained by the strategies employed by R. ornata, which align with the optimal defense hypothesis and functional trade-offs. Specifically, R. ornata appears to invest resources in defending key floral structures while, simultaneously, guard ants are conspicuously absent from flowers, resulting in some florivore damage to non-vital floral organs but ensuring that pollinators are not deterred by ants and thus maintaining high pollinator visitation rates.ConclusionsOur findings indicate that reproduction-related traits in R. ornata, including those involved in pollinator attraction and reward and florivore defense, are highly effective and work in concert to maximize plant reproductive success. Therefore, a main risk that R. ornata faces is the decline or disappearance of hawk moths and other lepidopterans given its extreme specialization and high dependence on pollinators, and conservation efforts should include habitat protection for both R. ornata and its pollinators.