Specific Syndromes Research Articles

Investigation of Insomnia Influencing Factors and Their Relationship with TCM Syndrome Elements in 621 Medical Staff Members

Objectives: Our study examined the incidence of insomnia among Chinese medical professionals, delved into associated factors, and examined its connection with Traditional Chinese Medicine (TCM) diagnostic elements. Methods: Between January 2020 and December 2022, our evaluation included 621 medical personnel, utilizing the Pittsburgh Sleep Quality Index (PSQI). Our team gathered data on demographics and occupations to pinpoint potential risks linked to insomnia. Furthermore, the components of TCM syndrome were assessed to understand their correlation with the quality of sleep. Results: Overall, 523 staff were classified as experiencing insomnia (PSQI score ≥ 8). We found statistically significant differences age, professional title, abnormal menstruation, night shift assignment, work intensity, and years of service between insomnia and non-insomnia groups. Logistic regression analysis revealed age over 40, senior professional title, night shift assignment, and high work intensity as risk factors for insomnia, while longer tenure was protective. Insomnia patients predominantly exhibited TCM syndromes such as phlegm-heat internally, heart-fire hyperactivity, and liver-depression fire. Conclusion: Our results reveal a high prevalence of insomnia among medical staff and its association with various demographic and occupational factors. They underscore the relevance of TCM syndrome elements in understanding sleep disorders and suggest personalized interventions targeting specific syndromes. Effective management of insomnia in medical staff is crucial for promoting both individual well-being and patient care quality.

Inflammation-Triggered Enlargement of Choroid Plexus in Subacute COVID-19 Patients with Neurological Symptoms.

To investigate whether choroid plexus volumes in subacute coronavirus disease 2019 (COVID-19) patients with neurological symptoms could indicate inflammatory activation or barrier dysfunction and assess their association with clinical data. Choroid plexus volumes were measured in 28 subacute COVID-19 patients via cerebral magnetic resonance imaging (MRI), compared with those in infection-triggered non-COVID-19 encephalopathy patients (n = 25), asymptomatic individuals after COVID-19 (n = 21), and healthy controls (n = 21). Associations with inflammatory serum markers (peak counts of leukocytes, C-reactive protein [CRP], interleukin 6), an MRI-based marker of barrier dysfunction (CSF volume fraction [V-CSF]), and clinical parameters like olfactory performance and cognitive scores (Montreal Cognitive Assessment) were investigated. COVID-19 patients showed significantly larger choroid plexus volumes than control groups (p < 0.001, η2 = 0.172). These volumes correlated significantly with peak leukocyte levels (p = 0.001, Pearson's r = 0.621) and V-CSF (p = 0.009, Spearman's rho = 0.534), but neither with CRP nor interleukin 6. No significant correlations were found with clinical parameters. In patients with subacute COVID-19, choroid plexus volume is a marker of central nervous system inflammation and barrier dysfunction in the presence of neurologic symptoms. The absence of plexus enlargement in infection-triggered non-COVID-19 encephalopathy suggests a specific severe acute respiratory syndrome coronavirus 2 effect. This study also documents an increase in choroid plexus volume for the first time as a parainfectious event. ANN NEUROL 2024.

Ovarian neuroendocrine tumor metastases can induce estrogen production in postmenopausal patients.

Neuroendocrine tumors (NETs) are malignant neoplasms that can be associated with specific hormonal syndromes. We describe a novel syndrome of postmenopausal vaginal bleeding and ovarian estradiol overproduction due to ovarian NET localizations. An extensive workup was performed for 2 index patients with ovarian metastases of small bowel neuroendocrine tumors and symptoms of postmenopausal vaginal bleeding. Clinically significant ovarian estrogen production was demonstrated by a combination of ovarian vein sampling and normalization of circulating estrogen levels after oophorectomy. Immunohistochemical analyses revealed marked aromatase immunoactivity in the ovarian NET cells, while CYP17A1 and SF-1 were detected in the adjacent ovarian stromal cells but not the NET cells. Ex vivo and in vivo endocrine tests were unable to identify a paracrine mechanism of ovarian estradiol overproduction by NET cells. A retrospective search of electronic medical records revealed that 21% (14/66) of postmenopausal patients with an ovarian NET localization reported symptoms of vaginal blood loss. Together, these findings support the presence of a novel NET-associated hormonal syndrome.

New valproate regulations, informed choice and seizure risk

Valproate is the most effective medication for generalised epilepsies, and several specific epilepsy syndromes. For some people, it will be the only medication to establish seizure remission, and withdrawing it carries risks of seizure recurrence and Sudden Unexpected Death in Epilepsy (SUDEP). It is also of proven efficacy for bipolar disorder and migraine prevention. Guidelines based on observational and epidemiological studies stress that maternal valproate related teratogenicity and neurodevelopmental effects are significantly higher than for other antiseizure medications (ASMs). It should, therefore, only be used if other medications are ineffective and after balancing the teratogenicity risk. Regulatory restrictions have changed prescribing practices and reduced valproate use. The number of other medications that must be trialled in the different conditions for which valproate has effectiveness and the consequences of the lack of efficacy of those drugs leading to significant harm including death remains unexplored. Risk minimisation measures (RMMs) for valproate, chiefly Pregnancy Prevention practices (PPP), consider foetal risk and not risk to people living with epilepsy. In the United Kingdom (UK), limitations relating to valproate use in all people < 55 years commenced in January 2024. While the evidence in child-bearing women is not disputed, the data in males are based on animal models, case reports, and one commissioned, unpublished, non-peer reviewed report unavailable to the UK public, stakeholder charities or professionals. Evidence suggests that 30–40% of people switching from valproate have breakthrough seizures. Thus, an estimated 21,000–28000 people in the UK will imminently be exposed to the potential hazards of breakthrough seizures, including death. There is little government investment in monitoring the effects of these changes to valproate prescribing on patient health and quality of life. This review summarises the history of valproate regulation, evidence underpinning it and argues how the latest regulations in the UK do not align with the country’s medical regulatory bodies ethical principles nor with the Montgomery principles of informed patient choice and autonomy. It dissects how such regulations infringe Common Law principles, nor give due regard for patient outcomes beyond reproduction. The paper looks to provide recommendations to redress these concerns while appreciating the core need for such governance to emerge in the first place.

Epilepsy, EEG and chromosomal rearrangements.

Chromosomal abnormalities are associated with a broad spectrum of clinical manifestations, one of the more commonly observed of which is epilepsy. The frequency, severity, and type of epileptic seizures vary according to the macro- and microrearrangements present. Even within a single chromosomal anomaly, we most often deal with a phenotypic spectrum. The aim of the study was to look for chromosomal rearrangements with a characteristic electroencephalographic pattern. Only a few disorders have peculiar electroclinical abnormalities: 1p36, 4p16, 6q terminal or trisomy 12p, Angelman syndrome, inv dup 15, 15q13.3 deletions, ring 20, Down syndrome, or Xp11.22-11.23 duplication. We also reviewed studies on epileptic seizures and typical electroencephalographic patterns described in certain chromosomal rearrangements, focusing on the quest for potential electroclinical biomarkers. The comprehensive review concludes with clinical presentations of the most common micro and macro chromosomal rearrangements, such as 17q21.31 microdeletion, 6q terminal deletion, 15q inv dup syndrome, 2q24.4 deletion, Xp11.22-11.23 duplication, 15q13.3 microdeletion, 1p36 terminal deletion, 5q14.3 microdeletion, and Xq28 duplication. The papers reviewed did not identify any specific interictal electroencephalographic patterns that were unique and significant biomarkers for a given chromosomal microrearrangement. The types of seizures described varied, with both generalized and focal seizures of various morphologies being reported. Patients with chromosomal anomalies may also meet the criteria for specific epileptic syndromes such as Infantile Epilepsy Spasms Syndrome (IESS, West syndrome): 16p13.11, 15q13.3 and 17q21.31 microdeletions, 5q inv dup. syndrome; Dravet syndrome (2q24.4 deletion), Lennox-Gastaut syndrome (15q11 duplication. 1q13.3, 5q inv dup.); or Self-Limited Epilepsy with Autonomic Features (SeLEAS, Panayiotopoulos syndrome: terminal deletion of 6q.n), Self-Limited Epilepsy with Centrotemporal Spikes (SeLECT): fragile X syndrome. It is essential to better characterize groups of patients to more accurately define patterns of epilepsy and EEG abnormalities. This could lead to new treatment strategies. Future research is required to better understand epileptic syndromes and chromosomal rearrangements. PLAIN LANGUAGE SUMMARY: This paper presents EEG recording abnormalities in patients with various gene abnormalities that can cause epilepsy. The authors summarize these EEG variations based on a literature review to see if they occur frequently enough in other chromosomal abnormalities (in addition to those already known) to be a clue for further diagnosis.

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study

BackgroundEpilepsy is a hallmark of IQSEC2-related encephalopathy within a phenotypic variability ranging between early onset epileptic and developmental encephalopathy and X-linked intellectual disability with epilepsy. Patients and MethodsData including demographic aspects, gene variants, seizure semiology and timing, EEG features, neuroimaging and response to therapy were retrospectively collected in patients with IQSEC2-related epilepsy referring to 8 Italian tertiary centres. ResultsThe reported cohort included 11 patients (8 males and 3 females). Mean age at the onset of epilepsy was 3.90±2.80 years. No cases were reported in the first year of life. No specific epileptic syndromes were recognized. Predominant seizure-types in the age range 12–36 months included focal onset tonic seizures with impaired awareness, myoclonic seizures, and late onset spasms. Generalized motor seizures were predominant in patients between 3 and 6 years and between 12 and 18 years while focal motor seizures with impaired awareness were the most represented types between 6 and 12 years. No patients experienced status epilepticus. EEG patterns included a delayed maturation of EEG organization, irregular focal or diffuse slow activity, multifocal or diffuse epileptiform abnormalities. No structural epileptogenic lesions were detected at MRI. Valproate, lamotrigine, clobazam, topiramate and levetiracetam were the most used antiseizure medication. Complete seizure freedom was achieved only in 2 patients. ConclusionsOnset of epilepsy after the first year of age, predominance of focal seizures with impaired awareness and generalized motor seizures, no pathognomonic underlying epileptic syndrome and infrequent occurrence of status epilepticus emerged as the main features of IQSEC2-related epilepsy phenotype.

Acculturation, Enculturation, Culture-Specific Emotional Distress, and Parenting Among Korean Immigrant Mothers.

This study examined how Korean immigrant mothers' cultural orientations (i.e., acculturation and enculturation) were related to their mental health, specifically depression and the culturally specific syndrome of Hwa-byung (HB), and had direct and indirect relations to their parenting practices (i.e., authoritative, authoritarian, acceptance, rejection). In a sample of 412 Korean immigrant mothers (99.5% foreign-born; Mage = 45.31), a path analysis was conducted by using the maximum-likelihood and bootstrapping methods. Results revealed that mothers' cultural orientations were indirectly related to parenting practices via depression and HB. Specifically, mothers' acculturation and enculturation had positive indirect relationships to authoritative parenting and acceptance versus a negative relationship to rejection, via their links to depression. Mothers' acculturation had a negative relationship to rejection via its link to HB, while enculturation was not related to HB. Additionally, cultural orientations were directly associated with parenting. Overall, the current findings highlighted that HB holds a unique role in parenting after controlling for the effects of depression, which suggests the importance of assessing culture specific syndrome, above and beyond depression, to have a better understanding of Korean immigrant mothers' mental health and its relation to parenting. Implications for research and practice are discussed.

Развитие синдрома алкогольной дислипидемии — фактор нарушения социальной безопасности в Арктическом регионе.

Alcoholism aggravates the nutritional component of developing comorbid somatic pathology risk in the Arctic region. Against the background of alcohol dependence syndrome (ADS) development peculiar changes in lipid metabolism are revealed: a low low-density lipoproteins (LDL) and triglycerides (TG) content, but a high high-density lipoproteins (HDL) content. The revealed changes stimulate the search for new diagnostic approaches, with the help of which it is possible to identify hidden alcohol-associated changes in lipid metabolism and influence the mechanisms of cardiovascular system (CVS) pathology development at different stages. The aim was to identify lipid metabolism disorders in practically healthy individuals and in individuals with alcohol dependence to substantiate the specific clinical and biological syndrome isolation — alcoholic dyslipidemia and to develop an algorithm for detecting hidden alcohol-associated disorders. 208 men were examined: 96 people — with II stage SCA; 112 — practically healthy individuals. The content of total cholesterol, TG, HDL was determined by enzymatic colorimetric method, LDL — by turbidimetric method, concentrations of apolipoproteins (apo-A and apo-B) — by immuno-turbidimetric method, fatty acids — by gas-liquid chromatography. A low content of SFA (pentadecanoic, margarine, arachine, geneicosene), multidirectional changes in MSFA with a low content of myristooleic and eicosene lipid acids, but high palmitooleic and heptadecanoic; PUFA ω-6 linoleic, arachidonic. At the same time, an increase in the content of linoleic lipid acids trans-form was noted, the content of ω-3 PUFA was also lower than that of PP due to α-linolenic (C18:3ω3), docosohexaenoic (DHA), but the content of eicosopentaenoic (EPA) was higher. In narcological patients, weak correlations between LDL, TG and NLC were found, which indicates a lipid acids into LDL and TG integration violation. The absence of interrelations of ω-3 linoleic acid with EPA and DHA forming from it in patients with ADS may indicate anenzymatic processes violation.

Causal effect between gut microbiota and metabolic syndrome in European population: a bidirectional mendelian randomization study

BackgroundObservational studies have reported that gut microbiota composition is associated with metabolic syndrome. However, the causal effect of gut microbiota on metabolic syndrome has yet to be confirmed.MethodsWe performed a bidirectional Mendelian randomization study to investigate the causal effect between gut microbiota and metabolic syndrome in European population. Summary statistics of gut microbiota were from the largest available genome-wide association study meta-analysis (n = 13,266) conducted by the MiBioGen consortium. The summary statistics of outcome were obtained from the most comprehensive genome-wide association studies of metabolic syndrome (n = 291,107). The inverse-variance weighted method was applied as the primary method, and the robustness of the results was assessed by a series of sensitivity analyses.ResultsIn the primary causal estimates, Actinobacteria (OR = 0.935, 95% CI = 0.878–0.996, P = 0.037), Bifidobacteriales (OR = 0.928, 95% CI = 0.868–0.992, P = 0.028), Bifidobacteriaceae (OR = 0.928, 95% CI = 0.868–0.992, P = 0.028), Desulfovibrio (OR = 0.920, 95% CI = 0.869–0.975, P = 0.005), and RuminococcaceaeUCG010 (OR = 0.882, 95% CI = 0.803–0.969, P = 0.009) may be associated with a lower risk of metabolic syndrome, while Lachnospiraceae (OR = 1.130, 95% CI = 1.016–1.257, P = 0.025), Veillonellaceae (OR = 1.055, 95% CI = 1.004–1.108, P = 0.034) and Olsenella (OR = 1.046, 95% CI = 1.009–1.085, P = 0.015) may be linked to a higher risk for metabolic syndrome. Reverse MR analysis demonstrated that abundance of RuminococcaceaeUCG010 (OR = 0.938, 95% CI = 0.886–0.994, P = 0.030) may be downregulated by metabolic syndrome. Sensitivity analyses indicated no heterogeneity or horizontal pleiotropy.ConclusionsOur Mendelian randomization study provided causal relationship between specific gut microbiota and metabolic syndrome, which might provide new insights into the potential pathogenic mechanisms of gut microbiota in metabolic syndrome and the assignment of effective therapeutic strategies.

Traditional Chinese herbal formulas modulate gut microbiome and improve insomnia in patients with distinct syndrome types: insights from an interventional clinical study.

Traditional Chinese medicine (TCM) comprising herbal formulas has been used for millennia to treat various diseases, such as insomnia, based on distinct syndrome types. Although TCM has been proposed to be effective in insomnia through gut microbiota modulation in animal models, human studies remain limited. Therefore, this study employs machine learning and integrative network techniques to elucidate the role of the gut microbiome in the efficacies of two TCM formulas - center-supplementing and qi-boosting decoction (CSQBD) and spleen-tonifying and yin heat-clearing decoction (STYHCD) - in treating insomnia patients diagnosed with spleen qi deficiency and spleen qi deficiency with stomach heat. Sixty-three insomnia patients with these two specific TCM syndromes were enrolled and treated with CSQBD or STYHCD for 4 weeks. Sleep quality was assessed using the Pittsburgh Sleep Quality Index (PSQI) and Insomnia Severity Index (ISI) every 2 weeks. In addition, variations in gut microbiota were evaluated through 16S rRNA gene sequencing. Stress and inflammatory markers were measured pre- and post-treatment. At baseline, patients exhibiting only spleen qi deficiency showed slightly lesser severe insomnia, lower IFN-α levels, and higher cortisol levels than those with spleen qi deficiency with stomach heat. Both TCM syndromes displayed distinct gut microbiome profiles despite baseline adjustment of PSQI, ISI, and IFN-α scores. The nested stratified 10-fold cross-validated random forest classifier showed that patients with spleen qi deficiency had a higher abundance of Bifidobacterium longum than those with spleen qi deficiency with stomach heat, negatively associated with plasma IFN-α concentration. Both CSQBD and STYHCD treatments significantly improved sleep quality within 2 weeks, which lasted throughout the study. Moreover, the gut microbiome and inflammatory markers were significantly altered post-treatment. The longitudinal integrative network analysis revealed interconnections between sleep quality, gut microbes, such as Phascolarctobacterium and Ruminococcaceae, and inflammatory markers. This study reveals distinct microbiome profiles associated with different TCM syndrome types and underscores the link between the gut microbiome and efficacies of Chinese herbal formulas in improving insomnia. These findings deepen our understanding of the gut-brain axis in relation to insomnia and pave the way for precision treatment approaches leveraging TCM herbal remedies.

Genome-wide sequencing in children with epilepsy and developmental disorders

The progress of genetic diagnostic methods and a significant improvement in the quality of next-generation sequencing (NGS) have led to a revolution in the study of the genetics of epilepsy. Genome-wide sequencing (PSG) is the «gold standard» in genetic research in epilepsy.Material and methods. Genome-wide sequencing was performed in 168 probands aged from 1 month to 18 years with a suspected diagnosis of genetic epilepsy. PSG was prescribed to patients who, alongside with epilepsy, had delayed intellectual/speech development and/or motor disorders and behavioral disorders.Results. According to the results of PSG, genetic variants related to the phenotype of the disease were detected in 137 out of 168 (81.5%) children, variations in the number of DNA copies were noted in 14 out of 168 (8.3%) patients. Variants with unclear clinical significance were described in 35 of 137 (25.54%). In the remaining 102 out of 137 (74.45%) patients, the identified causative genetic variants were described as probably pathogenic and pathogenic. Monogenic developmental and epileptic encephalopathies (DEE) were detected in 37/137 or 27% of all patients, while the spectrum of these genetic encephalopathies was extremely wide (from DEE type 1 to DEE type 97). In 52/137 (37.9%) children, the presence of a specific genetic syndrome outside the framework of the DEE, classified in OMIM, was confirmed.Conclusion. The results confirm the high informative value of genome-wide sequencing in a group of children with a combination of epilepsy, intellectual, speech, motor and behavioral disorders. In most cases, the results allow either to prescribe a genotype-oriented symptomatic (less often pathogenetic) treatment, or rationally justify the tactics of further observation and examination, as well as to increase the effectiveness of medical and genetic counseling. The authors express their sincere gratitude to the Charity foundation for medical and social genetic aid projects «Life Genome” for assistance in conducting genome-wide sequencing of most of the described patients.

Diagnostic performance of lactate dehydrogenase as a potential biomarker in predicting preeclampsia and associated factors.

Preeclampsia (PE), a pregnancy specific syndrome, is defined as new-onset hypertension (≥140/90 mmHg) and proteinuria diagnosed after gestational week 20 or new-onset pre-eclampsia associated signs in the absence of proteinuria, and it may tend to present as late as 4-6 weeks' postpartum period. It is a leading cause of maternal mortality in both developed and developing countries. In order to prevent PE, the disease must be diagnosed at its earliest stage, however, the triads of high blood pressure, edema and albuminuria is neither specific nor sensitive enough for diagnosing the disease. Lactate dehydrogenase (LDH) is useful biochemical marker reflecting the occurrence of complications associated with preeclampsia. Besides, it has been suggested as potential biomarker to predict the severity of preeclampsia and as indicator of multi-organ involvement. The aim of this study was to investigate the diagnostic accuracy of LDH, which is affordable and easy to test, as a potential clinical biomarker to predict onset of preeclampsia. A hospital based cross-sectional study was conducted as of September 9 to December 24, 2022 at Debre Birhan Comprehensive Specialized Hospital (DBCSH). A total of 132 study subjects (66 preeclamptic and 66 normotensive controls) were enrolled in the study. A receiver operating characteristics (ROC) curve was used to calculate the area under the curve (AUC) and determine diagnostic accuracy of LDH. Youden's index was used to identify an optimal cut-off point for LDH in detecting preeclampsia associated complications. AUC for LDH was found to be 0.963 (95% CI, 0.91, 1.0; p = 0.000) from ROC curve analysis. An optimal cut-off point for LDH was 376.5 U/L having a sensitivity and specificity of 87.5 and 90.8%, respectively. Serum LDH had an AUC of greater than 0.8 and showed good diagnostic accuracy in predicting development of preeclampsia. Disease duration, gestational age, systolic and diastolic blood pressure among enormous number of predictor variables had association with serum level of LDH.

Joubert Syndrome-Related Disorder: Report of Six Cases and Literature Review

Background: The prevalence of Joubert syndrome in most Arab countries is unknown, yet it has an estimated prevalence of 1/5,000 live births in the United Arab Emirates. Geographic areas where consanguinity represent high percentage (40-60%) of marriages, similar prevalence might be expected.Findings: In Case 1 (Figure 2), we found the neuroimaging features of classic JS in the form of MTS and mild vermian hypoplasia. In Case 2, (Figure 3) the imaging features included the appearance of persistent Blake’s pouch cyst. In Case 3 (Figure 4), we found the additional imaging features of Dandy Walker malformation. Case 4 (Figure 5) revealed classic JS features of the posterior fossa but with partial dysgenesis of the corpus callosum. In Case 5 (Figure 6), we found the unidentified JSRD that would help in recognizing the prognosis and clinical outcome. Case 6 (Figure 7) demonstrated the associated small posterior fossa, dysplastic superior vermis, occipital meninigocele, platybasia and compression of the cervicomedullary junction.Conclusion: First, these cases emphasize the importance of raising the clinical suspicion in this diagnosis in newborns presenting with abnormal respiration. Second, it is essential for the radiologist to look for other posterior fossa anomalies in case of finding an entity before jumping to a certain or specific syndrome. Additionally, follow-up cases of hydrocephalus should be thoroughly searched again for congenital malformations.Limitations: Our main limitation is the lack of genetic study of the presented cases due to outsourcing. That could help better classification of the Joubert syndrome in children.

Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.

Tumors of the central nervous system (CNS) comprise the second most common group of neoplasms in childhood. The incidence of germline predisposition among children with brain tumors continues to grow as our knowledge on disease etiology increases. Some children with brain tumors may present with nonmalignant phenotypic features of specific syndromes (e.g., nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch-repair deficiency), while others may present with a strong family history of cancer (e.g., Li-Fraumeni syndrome) or with a rare tumor commonly found in the context of germline predisposition (e.g., rhabdoid tumor predisposition syndrome). Approximately 50% of patients with a brain tumor may be the first in a family identified to have a predisposition. The past decade has witnessed a rapid expansion in our molecular understanding of CNS tumors. A significant proportion of CNS tumors are now well characterized and known to harbor specific genetic changes that can be found in the germline. Additional novel predisposition syndromes are also being described. Identification of these germline syndromes in individual patients has not only enabled cascade testing of family members and early tumor surveillance but also increasingly affected cancer management in those patients. Therefore, the AACR Cancer Predisposition Working Group chose to highlight these advances in CNS tumor predisposition and summarize and/or generate surveillance recommendations for established and more recently emerging pediatric brain tumor predisposition syndromes.

Rules of prescriptions for heart failure of dilated cardiomyopathy based on latent structure model and association rules

The latent structure model and association rules analysis were employed to explore the compatibility rules of prescriptions for heart failure of dilated cardiomyopathy, with a view to providing theoretical support for the clinical treatment of this disease based on syndrome differentiation and the formulation of guidelines. The articles about the treatment of heart failure of dilated cardiomyopathy were retrieved from CNKI, Wanfang, VIP, and SinoMed. The database was established in Microsoft Excel 2019. Lantern 5.0 and Rstudio were used to analyze the latent structure and association rules of Chinese medicine with the frequency greater than 4.00%. Furthermore, the frequency structure model was used to mine the rules of prescriptions for heart failure of dilated cardiomyopathy. The study included 175 traditional Chinese medicine(TCM) prescriptions, involving 128 Chinese medicines, with the cumulative frequency of 1 847. High-frequency medicines included Astragali Radix, Salviae Miltiorrhizae Radix et Rhizoma, Poria, Cinnamomi Ramulus, Glycyrrhizae Radix et Rhizoma, with the main effects of tonifying, activating blood, resolving stasis, and releasing exterior. A total of 17 hidden variables, 34 hidden categories, and 6 comprehensive cluster models, along with 15 core prescriptions, were obtained. According to the prescriptions, the patients mainly had the syndromes of heart-Yang and Qi deficiency, Qi deficiency and blood stasis, heart-kidney Yang deficiency or Qi-Yin deficiency. Fifty-four strong association rules were obtained through association rule analysis. The highest degree of support was observed for the combination of Salviae Miltiorrhizae Radix et Rhizoma-Astragali Radix, while the highest degree of confidence was found for the combination of Salviae Miltiorrhizae Radix et Rhizoma-Cinnamomi Ramulus-Ophiopogonis Radix-Astragali Radix. The heart failure of dilated cardiomyopathy, characterized by internal deficiency and excess manifestations, is attributed to deficiency, stasis, and water. These factors are closely associated with the heart, lung, and spleen. The treatment should follow the principle of invigorating Qi and warming Yang, and meanwhile the method of activating blood and resolve stasis or moving Qi and promoting urination can be adopted according to the specific syndrome of patients.

Differential diagnosis of acute psychosis after cocaine consumption: a case report

IntroductionPsychosis is a common clinical presentation of mental disorder in many psychiatric patients, however, an etiological diagnosis is important when it occurs for the first time in a patient. Regarding a case seen in the Emergency Department recently, with major depression and acute cocaine use, a differential diagnosis was made after adequate organic screening. When presenting delusion of infestation after the consumption of the substance, the main hypothesis was what we call Ekbom syndrome. However, among other possibilities we consider a toxic psychosis or a major depression with psychotic symptoms.ObjectivesReview the different causes of acute psychosis and the importance of a good clinical history to achieve a specific diagnosis. Perform a differential diagnosis between the main causes of psychosis in a patient with depression who has recently consumed cocaine.MethodsPresentation of the case and review of the available literature on the risk of developing psychosis after cocaine use and depression concomitantly.ResultsThere is a low number of reported cases of delusional infestation after acute cocaine use, being more likely toxic psychosis or major depression with psychotic symptoms. A good anamnesis, with systematic questions about toxic habits, can lead us to a more accurate main hypothesis.ConclusionsWe mark the importance of a systematic anamnesis to achieve a better diagnosis, as well as a correct study by the clinician of the specific syndromes described in phenomenology such as Ekbom syndrome, to make a correct association of ideas in the differential diagnosis.Disclosure of InterestNone Declared

Paraneoplastic Syndromes in Hepatocellular Carcinoma, Epidemiology, and Survival: A Retrospective Seven Years Study.

Background and Objectives: Liver cancer poses a significant global health threat, ranking among the top three causes of cancer-related deaths. Patients with hepatocellular carcinoma (HCC) often present with symptoms associated with neoplasms or unusual clinical features such as paraneoplastic syndromes (PNS), including hypoglycemia, hypercholesterolemia, thrombocytosis, and erythrocytosis. Our study aimed to investigate the prevalence, clinical characteristics, and survival outcomes associated with PNS in HCC patients and assess each PNS's impact on patient survival. Materials and Methods: We conducted a retrospective analysis of PNS clinical features and survival among consecutive HCC patients diagnosed at our department over seven years, comparing them with HCC patients without PNS. The study involved a retrospective data evaluation from 378 patients diagnosed with HCC between January 2016 and October 2023. Results: We obtained a PNS prevalence of 25.7%, with paraneoplastic hypercholesterolemia at 10.9%, hypoglycemia at 6.9%, erythrocytosis at 4.5%, and thrombocytosis at 3.4%. Patients with PNS tended to be younger and predominantly male. Multivariate analysis revealed a strong correlation between PNS and levels of alpha-fetoprotein and tumor size, with diabetes also showing a significant statistical association (p < 0.05). Subgroup analysis based on specific paraneoplastic syndromes demonstrated shorter survival in patients with PNS, albeit without significant statistical differences, except for hypoglycemia (p < 0.0001). Matched analysis indicated a shorter survival rate for patients with PNS, although no significant statistical differences were observed. Conclusions: PNS are frequently observed in HCC cases and are associated with unfavorable prognoses and decreased survival rates due to their correlation with increased tumor burdens. However, they do not independently predict poor survival. The impact of individual PNS on HCC prognosis varies.

The acute toxic effect of Chinese medicine Fuzi is exacerbated in kidney yang deficiency mice due to metabolic difference

Ethnopharmacological relevanceThe proper application of toxic medicines is one of the characteristics of traditional Chinese medicines, and the use of traditional Chinese medicines follows the principle of dialectical treatment. It is necessary to combine different “syndrome” or “disease” states with the toxicity of traditional Chinese medicines to form a reliable toxicity evaluation system. Fuzi, the lateral root of Aconitum carmichaelii Debx, is recognized as a panacea for kidney yang deficiency syndrome, however, its toxic effects significantly limit its clinical application. Aim of the studyHerein, our research aimed to explore the toxic effects of Fuzi on syndrome models, and tried to reveal the underlying mechanisms. Materials and methodsFirstly, the mouse model of kidney yang deficiency syndrome was established through intramuscular injection of 25 mg/kg hydrocortisone per day for 10 consecutive days. Then, the acute toxicity of Fuzi in normal mice and kidney yang deficiency model mice was explored. Finally, the plasma metabolite concentrations and liver CYP3A4 enzyme activity were analyzed to reveal the possible mechanisms of the different pharmacological and toxicological effects of Fuzi in individuals with different physical constitutions. ResultsIt was found that the treatment with Fuzi (138 g/kg) had serious toxic effects on kidney yang deficiency mice, leading to the death of 80% of the mice, whereas it showed no lethal toxicity in normal mice. This indicates that Fuzi induced greater toxicity in kidney yang deficiency mice than in normal ones. The liver CYP3A4 enzyme activity in kidney yang deficiency mice was decreased by 20% compared to the controls, resulting in slower metabolism of the toxic diester diterpenoid alkaloids in Fuzi. ConclusionIn conclusion, our study showed that changes of the metabolic enzyme activity in individuals with different syndromes led to different toxic effects of Chinese medicines, emphasizing the crucial importance of considering individual physical syndromes in the clinical application of traditional Chinese medicine, and the significance of conducting safety evaluations and dose predictions on animal models with specific syndromes for traditional Chinese medicines.

(150) Assessment of Using the Syndromic Approach in Managing Patients with Sexually Transmitted Diseases Among the National Guard Primary Health Care Physicians, Jeddah City, Saudi Arabia

Abstract Introduction Sexually transmitted infections (STIs) include a group of clinical syndromes that can be transmitted mainly through sexual activity. Using STIs’ syndromic approach for diagnosis and management is widely recommended to control and reduce the burden of these transmissible diseases Objective to assess the knowledge and practice of physicians concerning syndromic management of STIs in National Guard Primary Health Care (PHC) centers in Jeddah city, Saudi Arabia. Methods This observational study was conducted at the National Guard PHC centers in Jeddah City, Saudi Arabia. An interview-administered questionnaire was designed. Fifty physicians have met the inclusion criteria, and all of them were included in the present study. Results Of the study population, 47 PHC physicians (response rate was 94%) were interviewed and the questionnaire was completed. Overall, the physicians' knowledge was different from one syndrome to another; it was highest for urethral discharge (72%) and lowest for vaginal discharge in pregnant women (21%). During the last 10 days, the physicians in the present study reported that two-thirds of their cases of STI were urethral discharge cases. However, during the previous 10 days, the practice assessment revealed that most physicians (76%) were correctly prescribed the medications as indicated by specific patients' syndromes. Conclusions Syndromic management is essential guidance to control and reduce the burden of STIs. Overall knowledge and practice of physicians were different from one syndrome to another. There is a need to design continuing medical education programs targeting PHC physicians to be clinically and culturally competent against socially sensitive diseases like STIs. Disclosure No.

The Genetic Approach to Stillbirth: A Systematic Review

ABSTRACT Stillbirth represents a significant burden to individuals and families and has a great variety of causes, but much is still unknown about the underlying etiologies. The overall contribution of genetic abnormalities to stillbirth is not well known; this study was designed to evaluate known genetic causes of unexplained stillbirths, as well as understand the current position and future direction for using genetic and genomic testing in this field. This study was a systematic review of literature published between 1953 and 2020 on genetic testing and stillbirth. Inclusion criteria for studies were human cases, details and specific data on cohorts that included proportion of unexplained fetal deaths, and data on genetic testing and the subsequent results. Exclusion criteria were pregnancy loss before 22 weeks of gestation, focus on known causes of stillbirth, focus on fetal pathology or abnormalities, investigating neonatal death, genetic testing in populations with congenital anomalies or suspected specific syndromes, and those without details on genetic testing. The final review included 9 studies, 1 comparing karyotyping and chromosomal microarray analysis (CMA); 1 comparing karyotyping, CMA, and quantitative fluorescence–polymerase chain reaction; 2 with CMA only; and 5 with exome sequencing data. The studies that examined only CMA found 1 case of copy number variants (CNVs) in 24 cases and 31 CNVs in 96 cases. The largest study included here analyzed 532 stillbirths and compared CMA and karyotyping. Chromosomal microarray analysis showed a higher rate of detection of CNVs, increasing from 5.8% to 8.3% (P = 0.007) when compared with karyotype analysis. One challenge presented by this topic is that some disorders that could contribute to unexplained stillbirth are typically diagnosed when symptoms appear later in life and so are not usually associated with stillbirth or the risk of stillbirth. One example of this could be cardiac rhythm anomalies or other rare genetic variants that lead to stillbirth when appearing in a particular variation. One study included a cohort of unexplained stillbirth after postmortem examination that excluded obvious causes. Genetic analysis showed that several cases carried a variant that was functionally disruptive that may have contributed to stillbirth, but several additional cases that were functionally normal. Genetic variations relating to unexplained stillbirth are a broad and largely unexplored topic. Genetics play a vital role in clinical exploration and treatment of many disorders and in diagnosing causes of fetal mortality and morbidity. This review shows that genetic testing for stillbirth varies greatly according to test availability and guidelines of use, with some tests showing greater diagnostic yield than others. Although these studies incorporated large cohorts of unexplained stillbirths, genetic analysis identified potential causes for only a small percentage. Future research is needed to explain potential genetic causes for stillbirth.