Protracted febrile myalgia syndrome in children with familial Mediterranean fever - systematic review and a case report.

INTRODUCTION: Protracted febrile myalgia syndrome (PFMS) is a rare manifestation of familial Mediterranean fever (FMF), characterized by myalgia, fever and elevated inflammatory markers lasting several weeks. As the hallmark of FMF are short episodes of disease symptoms, the long duration of PFMS may lead to a delayed diagnosis and treatment. OBJECTIVES: 1. To perform a review of literature and rheumatology textbooks focused on clinical features and treatment of PFMS in children. 2. To present our own case. METHODS: All articles in Pub Med generated using the keywords "protracted febrile myalgia" and information on PFMS in seven rheumatology textbooks were collected. The systematic review was supplemented with our own case presentation. RESULTS: In total, 18 articles with 78 pediatric patients (including our own) were retrieved. More than half of the patients presented with PFMS as the first manifestation of FMF. All complained of myalgia, 65% of abdominal pain and 26% had a rash. Corticosteroids (CS) were effective in 77%. In all CS-refractory cases, anakinra was shown efficient. MRI was used in 5 patients and showed myositis in all of them. The scrutiny of seven rheumatology textbooks showed that PFMS presenting with myalgia was mentioned in six. Possible accompanying symptoms were described only once, the long duration of symptoms twice, the efficacy of corticosteroids three times and anakinra only once. The presented 6 year old patient manifested with fever, myalgia, abdominal pain and petechial rash lasting 6 weeks. She had undergone multiple diagnostic procedures before her parents mentioned a positive family history for FMF. The subsequent genetic testing confirmed a homozygosity for M694V pathogenic variant in the MEFV gene. CONCLUSION: The long duration of PFMS may be misleading to clinicians especially if PFMS occurs at manifestation of FMF. The fact that more than half of the reported patients experienced PFMS as the presenting symptom of FMF is one of the key findings of our study. Our case presentation demonstrates the importance of genetic testing early in suspected autoinflammatory diseases. Furthermore, MRI may be an important diagnostic tool showing myositis in PFMS.

A Rare Case of Pneumonia Caused by Capnocytophaga canimorsus.

We present the case of a 59-year-old immunocompetent female with a mild cough, fever, and rash. She was diagnosed with mild pneumonitis caused by Capnocytophaga canimorsus, with no history of dog bites. An indolent clinical course with transmission via canine face licking in immunocompetent individuals is a rare occurrence according to the literature. The diagnosis was made on positive blood cultures and polymerase chain reaction, following which the patient was treated with beta-lactam antibiotics. C. canimorsus is a gram-negative bacterium found in the saliva of dogs and cats. The incidence of human infections is rare, particularly affecting immunocompromised patients exposed to the saliva of these animals. Typical manifestations include severe sepsis, with a high case fatality.

Distinct FLT3 Pathways Gene Expression Profiles in Pediatric De Novo Acute Lymphoblastic and Myeloid Leukemia with FLT3 Mutations: Implications for Targeted Therapy.

Activating FLT3 mutations plays a crucial role in leukemogenesis, but identifying the optimal candidates for FLT3 inhibitor therapy remains controversial. This study aims to explore the impacts of FLT3 mutations in pediatric acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) and to compare the mutation profiles between the two types to inspire the targeted application of FLT3 inhibitors. We retrospectively analyzed 243 ALL and 62 AML cases, grouping them into FLT3-mutant and wild-type categories, respectively. We then assessed the associations between FLT3 mutations and the clinical manifestations, genetic characteristics, and prognosis in ALL and AML. Additionally, we compared the distinct features of FLT3 mutations between ALL and AML. In ALL patients, those with FLT3 mutations predominantly exhibited hyperdiploidy (48.6% vs. 14.9%, p < 0.001) and higher FLT3 expression (108.02 [85.11, 142.06] FPKM vs. 23.11 [9.16, 59.14] FPKM, p < 0.001), but lower expression of signaling pathway-related genes such as HRAS, PIK3R3, BAD, MAP2K2, MAPK3, and STAT5A compared to FLT3 wild-type patients. There was no significant difference in prognosis between the two groups. In contrast, AML patients with FLT3 mutations were primarily associated with leucocytosis (82.90 [47.05, 189.76] G/L vs. 20.36 [8.90, 55.39] G/L, p = 0.001), NUP98 rearrangements (30% vs. 4.8%, p = 0.018), elevated FLT3 expression (74.77 [54.31, 109.46] FPKM vs. 34.56 [20.98, 48.28] FPKM, p < 0.001), and upregulated signaling pathway genes including PIK3CB, AKT1, MTOR, BRAF, and MAPK1 relative to FLT3 wild-type, correlating with poor prognosis. Notably, internal tandem duplications were the predominant type of FLT3 mutation in AML (66.7%) with higher inserted base counts, whereas they were almost absent in ALL (6.3%, p < 0.001). In summary, our study demonstrated that the forms and impacts of FLT3 mutations in ALL differed significantly from those in AML. The gene expression profiles of FLT3-related pathways may provide a rationale for using FLT3 inhibitors in AML rather than ALL when FLT3 mutations are present.

Comprehensive Clinical Profile and Hemodialysis Outcomes in Patients Attending a Tertiary Care Hospital.

Background Chronic kidney disease (CKD) can lead to serious conditions such as anemia and cardiovascular disease, posing a growing global health challenge. End-stage renal disease (ESRD) requires treatments such as dialysis or kidney transplantation. Despite the widespread impact and rising prevalence of CKD and ESRD, comprehensive data remains limited in India. This study seeks to investigate the clinical, socio-demographic, and etiological profiles of CKD patients undergoing hemodialysis at a tertiary care hospital, with the goal of enhancing understanding and improving patient care. Methodology This retrospective cohort study, conducted at a tertiary care center, included 500 CKD patients undergoing hemodialysis, with comprehensive medical records. Data collected covered demographics (age, sex, education, and occupation), CKD etiology, disease duration, hemodialysis duration, viral marker status, blood transfusions, and vascular access details. With continuous variables reported as mean ± standard deviation (SD) and categorical variables as counts (percentages), statistical analysis was carried out using SPSS version 21 (IBM Corp., Armonk, New York, USA). The connections were examined using the Pearson Chi-square test, with P≤0.05 being deemed significant. Results The study revealed that hypertension was the primary cause of CKD in 58% of patients, followed by diabetes mellitus in 13%. A significant 93% of patients tested negative for viral markers such as human immunodeficiency virus (HIV), hepatitis C virus (HCV), and hepatitis B surface antigen (HBsAg). Hemodialysis duration varied, with 68% of patients undergoing dialysis for one to five years. Most patients had two (40%) or three (58%) dialysis sessions per week, and 84% had only one arteriovenous (AV) fistula surgery. Blood transfusions were common, with 62% of patients receiving between one and five transfusions. The gender distribution showed more males (372) than females (201), and the majority of patients were aged between 41 and 60 years. Conclusion This study highlights the importance of early detection and management of CKD, emphasizing preventive health measures, enhanced diagnostic capabilities, and sufficient resource allocation to reduce the disease burden. It also calls for further research into unknown CKD causes and strategies to improve patient care and outcomes.

Genetic susceptibility and clinical features of CYP2D6 associated with systemic lupus erythematosus in a Chinese population.

OBJECTIVE: This study aims to explore possible susceptibility genes and clinical features for systemic lupus erythematosus (SLE) patients in a Chinese population. METHODS: Expanding on the results of a prior single-center observational study involving 60 systemic lupus erythematosus patients, a subsequent single-center prospective observational study was conducted on SLE patients undergoing treatment at Nanfang Hospital Affiliated to Southern Medical University from 2021 to 2023. The identification process for drug-related target genes entailed an extensive search across PharmGKB (https://www.pharmgkb.org/), the Clinical Pharmacogenetics Implementation Consortium (CPIC),and PubMed literature databases, to pinpoint common drugs and target single nucleotide polymorphisms(SNPs)for SLE. Blood samples were individually collected and genotyped using MassARRAY® high-throughput nucleic acid mass spectrometry. Genotype frequency differences were assessed through Chi-square tests against both the larger East Asian population as well as kidney transplant recipients. Data collection relied on electronic medical records, encompassing demographic details(age, gender),medication regimens(hormones, NSAIDs, hydroxychloroquine, DMARDs, biologic agents, stomach medications, calcitriol, etc.),laboratory indicators(RF, Anti-CCP antibody, ESR, CRP, anti-ANA antibodies, dsDNA antibodies, anti-SM antibodies, S m. RNP antibodies, A LT, ALB, CR, UA, WBC, PLT, HGB, Ca, K, Glu, CHOL, TG, LDL-C, HDL-C) and lupus activity scores(SLEDAI-2K). Possible disease susceptibility genes were categorized, and SPSS26 software facilitated statistical analyses. RESULTS: The research encompassed a total of 137 SLE patients along with 50 SNPs. After conducting statistical analyses, it emerged that there existed significant disparities in CYP2D6 gene (rs1065852) distribution when compared against allele mutation rates within both East Asian populations (p < .05) and kidney transplant patients(p < .05). Wild-type gene (GG) constituted 14% of cases while mutant gene (GA + AA) constituted 86%. Allele mutation rate (A63.6%) was significantly higher among SLE patients (RR = 0.802; p = .0355). Furthermore, the variant rs1065852 genotype (GA + AA) demonstrated significant associations with lower CRP levels, higher HGB levels, and higher HDL-C levels (p < 0 0.05). CONCLUSION: The metabolic enzyme CYP2D6 may be used as susceptibility gene for predicting systemic lupus erythematosus and are correlated with CRP and other indicators.

Impact of extrathyroidal autoimmune diseases on clinical features and the efficacy of Iodine-131 therapy in patients with differentiated thyroid cancer.

OBJECTIVE: The aim of this study is to assess the impact of extrathyroidal autoimmune diseases (ADs) on the clinical characteristics and efficacy of iodine-131 (131I) therapy in patients with differentiated thyroid cancer (DTC). METHODS: Patients with DTC who were received 131I therapy simultaneously were classified into the combination group (n = 35) and noncombination group (n = 146) depending on the presence of ADs. The clinical characteristics, such as gender, age, tumor lesions, lymph node metastasis, distant metastasis, 131I therapy efficacy, and use of levothyroxine, were compared between the two groups. Statistical analysis was conducted using SPSS 26.0 and R 4.0.3. RESULTS: There was a statistically significant difference in age between the combination and noncombination groups (t = -2.872, p < .01), and the optimal cutoff value was 50.5 years. Propensity score matching was completed effectively on a total of 121 patients, using age as the matching factor, comprising 32 cases in the combination group and 80 cases in the noncombination group. The baseline demographic features of the two groups were equivalent after matching (p > .05), and there was no significant difference in the therapeutic efficacy of 131I between the two groups (p > .05). In the subgroup analysis involving patients aged great than 50.5 years, the levothyroxine/weight (µg/kg) was increased in the combination group, and the difference was statistically significant (p < .05). CONCLUSION: While extrathyroidal ADs may enhance the detection of DTC among elderly women, they have no impact on the clinical characteristics of thyroid cancer or the efficacy of 131I therapy. ADs may necessitate higher per-unit dosages of levothyroxine in patients with DTC, regardless of the clinical status. Consequently, it is not essential for nuclear medicine physicians to consider the presence of ADs when designing treatment plans for patients with DTC.

Model Predicting the Risk of Endometrial Hyperplasia Developing into Endometrial Cancer.

Background: This study retrospectively analyzed the medical records of 200 patients with endometrial hyperplasia to predict the risk of concurrent endometrial cancer. Methods: Patients were categorized into either the endometrial cancer group or the endometrial hyperplasia group based on post-hysterectomy pathology. The investigation compared general information, tumor indices, fertility history, preoperative endometrial sampling methods, comorbidities, and clinical symptoms between the groups to identify risk factors for endometrial hyperplasia complicating endometrial cancer. Results: (1) Of the 200 patients, 68 (34.0%) were diagnosed with concurrent endometrial cancer post-hysterectomy. Among these, 60 (88.24%) had endometrioid adenocarcinoma, while 8 (11.76%) had other types. Stage I was identified in 58 patients (85.29%) and Stage II in 10 patients (14.71%). High differentiation was observed in 57 cases (83.82%), moderate differentiation in 7 cases (10.29%), and poor differentiation in 4 cases (5.89%), indicating that most endometrial cancers complicated by hyperplasia were early-stage, well-differentiated endometrioid carcinomas; (2) Univariate analysis revealed statistically significant differences in age, menopausal status, length of menopause, and preoperative endometrial pathology of severe atypical hyperplasia between the groups; (3) Multivariate analysis indicated significant differences for age ≥ 53.5 years (OR: 4.307, 95% CI: 2.018-9.192, p < 0.05), menopausal status (OR: 5.250, 95% CI: 2.449-11.252, p < 0.05), and severe atypical endometrial hyperplasia (OR: 4.817, 95% CI: 1.260-18.419, p < 0.05); (4) Significant differences were observed among patients with endometrial hyperplasia when stratified by the presence of zero, one, two, or three high-risk factors. Conclusion: In conclusion, patients aged ≥ 53.5 years, those who are menopausal, and those with severe atypical endometrial hyperplasia preoperatively are at higher risk for endometrial cancer. The risk increases with the number of high-risk factors present in patients with atypical endometrial hyperplasia.

Clinical features and prognostic biomarkers in patients with SMARCA4-mutated non-small cell lung cancer.

Background: Patients with non-small cell lung cancer (NSCLC) carrying SMARCA4 mutations (SMARCA4-Mut) tend to have more advanced disease and a poor prognosis. However, due to the rarity of this mutation and the lack of related studies, the characteristics of SMARCA4-Mut NSCLC patients remains poorly determined. To clarify the clinical characteristics and prognostic factors of SMARCA4-Mut NSCLC, we initiated the present study to provide a clinical reference. Methods: We used data from two cohorts of NSCLC-SMARCA4-mutated samples: The Cancer Genome Atlas (TCGA) database and our center's clinical data. The TCGA database was used to obtain 481 NSCLC-SMARCA4-Mut samples for clinical characterization. The center collected data on 224 consecutive NSCLC patients treated between December 2020 to July 2022. Among them, 26 harbored SMARCA4 mutations, and 20 were eligible for inclusion in the study. Clinical, pathological, and molecular features, as well as prognostic role of SMARCA4 mutations were analyzed. Additionally, we analyzed the prognostic impact of Napsin A expression in SMARCA4-Mut patients. Results: The TCGA database included 480 patients with SMARCA4-Mut NSCLC, 311 males (64.8%) and 169 females (35.2%), with a median age of 67 years. Among the 20 SMARCA4-Mut patients in our center series, 12 (60%) were males and 8 (40%) females, with a median age of 63. The intergroup prognostic correlation analysis showed that SMARCA4-Mut patients had significantly worse prognosis than those the wild-type SMARCA4 (SMARCA4-WT) (P=0.04). Within the SMARCA4-Mut group, patients with Napsin A expression had longer overall survival (OS) (P=0.03) than those without expression. Median survival in the Napsin A-positive and negative groups was 32 and 15 months, respectively. According to time-dependent receiver operating curve analysis, patients with Napsin A expression had significantly longer first-line treatment progression-free survival (PFS1) [area under the curve (AUC) =0.748] and OS (AUC =0.586). No prognostic value of Napsin A was found in patients SMARCA4-WT patients. Conclusions: SMARCA4-Mut is an adverse prognostic feature in NSCLC patients. Napsin A expression in SMARCA4-Mut patients is associated with prolonged OS.

Targeted gene sequencing and transcriptome sequencing reveal characteristics of NUP98 rearrangement in pediatric acute myeloid leukemia.

BACKGROUND: NUP98 rearrangements (NUP98-r) are rare but overrepresented mutations in pediatric acute myeloid leukemia (AML) patients. NUP98-r is often associated with chemotherapy resistance and a particularly poor prognosis. Therefore, characterizing pediatric AML with NUP98-r to identify aberrations is critically important. METHODS: Here, we retrospectively analyzed the clinicopathological features, genomic and transcriptomic landscapes, treatments, and outcomes of pediatric patients with AML. RESULTS: Nine patients with NUP98-r mutations were identified in our cohort of 142 patients. Ten mutated genes were detected in patients with NUP98-r. The frequency of FLT3-ITD mutations differed significantly between the groups harboring NUP98-r and those without NUP98-r (P = 0.035). Unsupervised hierarchical clustering via RNA sequencing data from 21 AML patients revealed that NUP98-r samples clustered together, strongly suggesting a distinct subtype. Compared with that in the non-NUP98-r fusion and no fusion groups, CMAHP expression was significantly upregulated in the NUP98-r samples (P < 0.001 and P = 0.001, respectively). Multivariate Cox regression analyses demonstrated that patients harboring NUP98-r (P < 0.001) and WT1 mutations (P = 0.030) had worse relapse-free survival, and patients harboring NUP98-r (P < 0.008) presented lower overall survival. CONCLUSIONS: These investigations contribute to the understanding of the molecular characteristics, risk stratification, and prognostic evaluation of pediatric AML patients.

Bladder endometriosis: symptoms and pregnancy outcomes.

OBJECTIVE: To investigate the clinical features of bladder endometriosis and factors associated with urinary symptoms, pregnancy outcomes, and long-term effects of symptom relief and recurrence. DESIGN: A single-center retrospective cohort study. SETTING: A tertiary referral hospital. PARTICIPANTS: Forty-seven patients who were surgically confirmed to have bladder endometriosis at Peking Union Medical College Hospital between January 2012 and December 2023 were included in this study. INTERVENTIONS: A retrospective study of the clinical and pathological features and reproductive outcomes in patients with bladder endometriosis. MEASUREMENTS AND MAIN RESULTS: Among 47 patients with bladder endometriosis, 27 (57.4%) presented with urinary symptoms, including urinary frequency, urgency, dysuria, and hematuria. Patients with urinary symptoms were more likely to have previous cesarean sections (odds ratio [OR] 4.5, 95% confidence interval [CI] 1.1-19.2, p=0.032) and experience dysmenorrhea compared to those without (p=0.008, OR 5.3, 95%CI 1.5-18.8). Anterior compartment obliteration was another factor associated with urinary symptoms (OR 7.2, 95%CI 1.3-40.4, p=0.016). Bladder lesions located within 1 cm of the ureteral orifice (OR 7.2, 95%CI 1.3-40.4, p=0.020) and the deeper invasive layer of lesions (mucosal layer, OR 6.1, 95%CI 1.4-25.8, p=0.009) were also found to be associated with symptoms. Regarding reproductive outcomes, 12 patients desired to conceive. Of the patients who desired pregnancy, 66.7% achieved pregnancy; 5 spontaneously and 3 after IVF treatment. The miscarriage rate among patients with bladder endometriosis was 25.0% in the age range of 27-40 years. Additionally, all patients experienced symptom relief after one year of follow-up. Only two patients experienced bladder endometriosis recurrence. CONCLUSIONS: Previous cesarean section, dysmenorrhea, anterior compartment obliteration, lesion in the trigone, and mucosal layer invasion were identified as factors associated with urinary symptoms. Although some patients conceived successfully after surgery, disentangling the independent effect of bladder endometriosis on fertility remains challenging.

Application of a combined clinical prediction model based on enhanced T1-weighted image(T1WI) full volume histogram in peripheral nerve invasion (PNI) and lymphatic vessel invasion (LVI) in rectal cancer.

PURPOSE: This study aims to use a combined clinical prediction model based on enhanced T1-weighted image(T1WI) full volume histogram to predict preoperative peripheral nerve invasion (PNI) and lymphatic vessel invasion (LVI) in rectal cancer. METHODS: We included a total of 68 PNI patients and 80 LVI patients who underwent surgical resection and pathological confirmation of rectal cancer. According to the PNI/LVI status, patients were divided into PNI positive group (n = 39), the PNI negative group (n = 29), LVI positive group (n = 48), and the LVI negative group (n = 32). External validation included a total of 42 patients with nerve and vascular invasion in patients with surgically resected and pathologically confirmed rectal cancer at another healthcare facility, with a PNI positive group (n = 32) and a PNI-negative group (n = 10) as well as an LVI positive group (n = 35) and LVI-negative group (n = 7). All patients underwent 3.0T magnetic resonance T1WI enhanced scanning. We use Firevoxel software to delineate the region of interest (ROI), extract histogram parameters, and perform univariate analysis, LASSO regression, and multivariate logistic regression analysis in sequence to screen for the best predictive factors. Then, we constructed a clinical prediction model and plotted it into a column chart for personalized prediction. Finally, we evaluate the performance and clinical practicality of the model based on the area under curve (AUC), calibration curve, and decision curve. RESULTS: Multivariate logistic regression analysis found that variance and the 75th percentile were independent risk factors for PNI, while maximum and variance were independent risk factors for LVI. The clinical prediction model constructed based on the above factors has an AUC of 0.734 (95% CI: 0.591-0.878) for PNI in the training set and 0.731 (95% CI: 0.509-0.952) in the validation set; The training set AUC of LVI is 0.701 (95% CI: 0.561-0.841), and the validation set AUC is 0.685 (95% CI: 0.439-0.932). External validation showed an AUC of 0.722 (95% CI: 0.565-0.878) for PNI; and an AUC of 0.706 (95% CI: 0.481-0.931) for LVI. CONCLUSIONS: This study indicates that the combination of enhanced T1WI full volume histogram and clinical prediction model can be used to predict the perineural and lymphovascular invasion status of rectal cancer before surgery, providing valuable reference information for clinical diagnosis.

Neuromyelitis optica spectrum disorder: Exploring the diverse clinical manifestations and the need for further exploration.

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder characterized by inflammatory assaults on the central nervous system (CNS), particularly on the optic nerves and spinal cord. In recent years, a wider range of clinical manifestations of this complex disease have been observed, emphasizing the importance of gaining a more profound understanding beyond optic neuritis (ON) and transverse myelitis (TM). CURRENT KNOWLEDGE: This study explores the many clinical symptoms of NMOSD, including common and uncommon presentations. Distinctive aspects of ON, TM, and diencephalic/brainstem syndromes are examined, highlighting their unique characteristics in contrast to conditions such as multiple sclerosis. We also discuss extra-CNS involvement, such as unusual signs, including muscle involvement, retinal injury, auditory impairment, and rhinological symptoms. AIMS AND OBJECTIVES: Our study intends to highlight the wide range and complexity of NMOSD presentations, emphasizing the significance of identifying unusual symptoms for precise diagnosis and prompt management. The specific processes that contribute to the varied clinical presentation of NMOSD are not well understood despite existing information. This emphasizes the necessity for more study to clarify the mechanisms that cause different symptoms and discover new treatment targets for this complex autoimmune disorder. CONCLUSION: It is essential to acknowledge the complex and varied clinical manifestations of NMOSD to enhance diagnosis, treatment, and patient results. By enhancing our comprehension of the fundamental processes and investigating innovative therapeutic approaches, we may aim to enhance the quality of life for persons impacted by this illness.

Prediction of malignant risk stratification model for parotid gland nodules based on clinical and conventional ultrasound features: construction and validation.

Background: Ultrasound is widely used in the examination of the parotid gland, but no single ultrasound feature has demonstrated satisfactory diagnostic performance in predicting the nature of parotid nodules. Unlike the established and widely used grading systems for breast and thyroid nodules, a universally adopted and clinically accepted risk stratification system for malignancy in parotid gland nodules remains absent at present. This study aims to establish a malignant risk stratification model for parotid nodules by analyzing patients' clinical features and conventional ultrasound image characteristics. Methods: In this study, clinical data and ultrasound images of 736 patients with parotid nodules were retrospectively analyzed. Pathological results served as the gold standard, and the patients were randomly divided into training and validation groups in a 7:3 ratio. Clinical and ultrasound features of parotid nodules in the training group were compared. Multifactor logistic regression analysis was employed to screen for risk factors of malignant nodules and quantify scores. The probability of malignant risk was assessed and classified into five grades (Grade 1, normal parotid; Grade 2, definitive benign; Grade 3, possibly benign; Grade 4, suspicious malignant; Grade 5, high probability of malignancy). The diagnostic performance of the model was assessed by using calibration curves, receiver operating characteristic curves, decision curves, and clinical impact curves. Results: Facial symptoms, unclear margin, irregular shape, microcalcification, and abnormal cervical lymph nodes were independent risk factors for malignant parotid nodules. The area under the curve of the model was 0.850 [95% confidence interval (CI): 0.816-0.879] in the training group and 0.846 (95% CI: 0.791-0.891) in the validation group. Conclusions: The malignancy risk stratification model based on clinical and ultrasound image features has a good differentiation between benign and malignant parotid nodules, which is helpful for diagnosis and guiding clinical treatment.

Disseminated gonococcal infection during two decades in the university hospital, Thailand.

Background: Disseminated gonococcal infection (DGI) caused by Neisseria gonorrhoeae commonly presents with the classic triad of polyarthritis, tenosynovitis, and dermatitis. There is no clinical and microbiological data of DGI in Thailand. Objective: To study the clinical features, outcomes of treatments, and antimicrobial susceptibility data of DGI patients. Methods: All medical records of DGI patients at King Chulalongkorn Memorial Hospital (KCMH) from January 2002 through September 2019 were reviewed and analyzed. The patients were defined as definite DGI (the clinical features and the evidence of gonococcal infection) and probable DGI (clinical features with response to treatment with third-generation cephalosporins and with no evidence of gonococcal infection). Results: There were 41 patients (27 definite and 14 probable DGI), with a male-to-female ratio of 1:1.4 and median age of 30 years. The middle-age and elderly group accounted for 20% of the patients. The clinical features were fever (90.27%), arthritis (92.7%), tenosynovitis (63.4%), and genitourinary symptoms (29.3%). The most common pattern of joint involvement was oligoarthritis (52.6%). The majority of the patients had good clinical outcomes, while complications occurred in 4.8% of the patients including osteomyelitis and pyomyositis. All 19 antimicrobial-susceptibility results were susceptible to ceftriaxone. Conclusions: During the past 2 decades in KCMH, the age of the DGI patients tends to be older, and there is no gender difference as in the historical studies. The clinical features are still similar to the previous studies. The majority of the patients had good clinical outcomes. There is no case of ceftriaxone-resistant N. gonorrhoeae.

Deep learning-based multimodal fusion of the surface ECG and clinical features in prediction of atrial fibrillation recurrence following catheter ablation.

BACKGROUND: Despite improvement in treatment strategies for atrial fibrillation (AF), a significant proportion of patients still experience recurrence after ablation. This study aims to propose a novel algorithm based on Transformer using surface electrocardiogram (ECG) signals and clinical features can predict AF recurrence. METHODS: Between October 2018 to December 2021, patients who underwent index radiofrequency ablation for AF with at least one standard 10-second surface ECG during sinus rhythm were enrolled. An end-to-end deep learning framework based on Transformer and a fusion module was used to predict AF recurrence using ECG and clinical features. Model performance was evaluated using areas under the receiver operating characteristic curve (AUROC), sensitivity, specificity, accuracy and F1-score. RESULTS: A total of 920 patients (median age 61 [IQR 14] years, 66.3% male) were included. After a median follow-up of 24 months, 253 patients (27.5%) experienced AF recurrence. A single deep learning enabled ECG signals identified AF recurrence with an AUROC of 0.769, sensitivity of 75.5%, specificity of 61.1%, F1 score of 55.6% and overall accuracy of 65.2%. Combining ECG signals and clinical features increased the AUROC to 0.899, sensitivity to 81.1%, specificity to 81.7%, F1 score to 71.7%, and overall accuracy to 81.5%. CONCLUSIONS: The Transformer algorithm demonstrated excellent performance in predicting AF recurrence. Integrating ECG and clinical features enhanced the models' performance and may help identify patients at low risk for AF recurrence after index ablation.

A Proliferating Trichilemmal Tumor at an Uncommon Site Treated With Radical Excision: A Case Report and Literature Review.

A proliferating trichilemmal tumor (PTT) is a rare, benign, exophytic tumor originating from the isthmus region of the outer root sheath of the hair follicle. Clinically, PTTs manifest as isolated, exophytic, firm nodules that have the potential to ulcerate. These tumors may occasionally originate from a pre-existing trichilemmal cyst, or they can emerge spontaneously. Most exclusively these lesions are seen on the scalp. However, rarely these tumors can be found in other anatomical areas. Our patient had a protruding mass in her shoulder for 20 years, and this is a rare site for the occurrence of these lesions; it could be the first case to document such a site, as far as we found in the literature. The mainstay treatment of the PTT is surgical excision of the tumor, assessing the histological margins to ensure sufficient resection was made, close monitoring, and follow-up with the patient.

Ultrasound scanning in diagnosing primary thyroid lymphoma.

OBJECTIVE: This study aimed to summarize the clinical manifestations and ultrasound characteristics of primary thyroid lymphoma (PTL) and explore the key aspects in the process of diagnosing PTL. METHODS: We conducted a retrospective analysis of the clinical and ultrasound features of 11 patients with PTL who were admitted to Shandong Provincial Third Hospital, China, between May 2009 and August 2023. The pathology was confirmed in all cases through an ultrasound-guided core needle biopsy or surgical resection. RESULTS: The mean age of the 11 patients was 64.45±9.85 years. In six patients, the main clinical manifestation was a palpable mass in the neck, five of whom had a significant increase in the size of the mass within 3 months to 2 years. Eleven patients had coexisting Hashimoto's thyroiditis (HT). Three patients were diagnosed as having diffuse-type PTL, wherein the ultrasound showed enlargement of the affected thyroid gland with diffusely uneven hypoechoic parenchyma. In 7 patients with nodular type PTL and 1 case of mixed type PTL, the ultrasonographic features of the nodular lesions were of irregular morphology and yet had distinct borders, and only 1 case had gross calcification. There were 7 cases of hypoechoic lesions (7/11 cases, 63.6%), 9 cases where the lesions had linear echo chains (9/11 cases, 81.8%), and 10 cases (90.9%) where there was echogenic enhancement posterior to the lesion. CONCLUSION: In elderly patients with HT, the thyroid volume increases significantly in a short period of time and symptoms associated with compression in the neck region appear. The ultrasound characteristics were extremely hypoechoic lesions in the thyroid parenchyma, with more linear echo chains visible inside, accompanied by posterior echo enhancement. When encountering such presentations, physicians must consider the possibility of PTL. Performing a core needle biopsy in cases that raise suspicion can reduce the incidence of misdiagnosis.

A Systematic Review of Clinical Features and Treatment Outcomes of Xanthoma Disseminatum.

Xanthoma disseminatum (XD) is a rare normolipidemic mucocutaneous xanthomatosis within the spectrum of cutaneous non-Langerhans histiocytosis. Managing XD poses substantial challenges, with limited available data. This study aims to comprehensively evaluate existing literature on clinical features of XD and treatment outcomes. A systematic search of MEDLINE, Embase, and PubMed was performed, using "xanthoma disseminatum" and "Montgomery syndrome" as search terms, without restrictions. Screening was performed in duplicate by 2 reviewers. One hundred fifty-one studies met the inclusion criteria, yielding 166 cases of XD (106 females, 60 males), mean age at diagnosis 35.3 years (range: 9 months-87 years). XD typically presented as yellow-to-brown coalescing papules/plaques and nodules. Distribution affects mainly the face (n = 116/166), flexures (n = 45/166), trunk (n = 65/166), and genitalia/inguinal areas (n = 63/166). Most cases (99.4%; n = 165/166) exhibited extracutaneous manifestations, including the pituitary gland and the oropharynx. Treatment options rendered low complete response rates (CRRs). Treatments with reported outcomes included surgical resection (n = 17/99), systemic steroids (n = 40/99), immunosuppressants/immunomodulators (n = 73/99), energy-based devices (n = 7/99), lipid-lowering agents (n = 24/99), cryotherapy (n = 6/99), lasers (n = 10/99), topical steroids (n = 6/99), oral retinoids (n = 2/99), and radiotherapy (n = 5/99), with CCRs of 23.5% (n = 4/17), 5.0% (n = 2/40), 9.6% (n = 7/73), 14.3% (n = 1/7), 4.2% (n = 1/24), 16.7% (n = 1/6), 10.0% (n = 1/10), 0% (n = 0/6), 0% (n = 0/2), and 0% (n = 0/5), respectively. The most promising therapy is cladribine, with the highest CRR of 27.1% (n = 6/22) and the lowest no response rate (9.1%; n = 2/22) of all reported treatments. This review confirms the high prevalence of systemic manifestations in XD. Treatment options vary widely; thus, further research is needed to establish management strategies for this challenging condition.

Risk Factors and Clinical Features of Peripartum Cardiomyopathy in a Chinese Population.

Purpose: We investigated the risk factors and characteristic clinical features of peripartum cardiomyopathy (PPCM) to lay the groundwork for early identification, screening, diagnosis, and intervention in high-risk pregnant women. Patients and methods: A retrospective case-control study was conducted to analyze data from 44 patients with PPCM and 226 normal pregnant women from a Chinese population. Results: Significant differences were found between the groups in terms of various factors such as age, body mass index (BMI), heart rate, and medical history. Logistic regression models identified abnormal electrocardiography (OR=18.852), upper respiratory tract infection (OR=41.822), gestational hypertension (OR=18.188), and cesarean section (OR=8.394) as risk factors for PPCM. Common clinical features observed in patients with PPCM included cough, wheezing, and chest tightness (68.18%), left heart enlargement (56.82%) and valvular insufficiency (81.82%). Additionally, cardiotropic virus was detected in a subset of patients (43.18%) and NT-proBNP was elevated ≥ 400 pg/mL (81.82%). Conclusion: In the Chinese population, the presence of abnormal electrocardiograms during pregnancy, history of upper respiratory tract infection, gestational hypertension, and maternal choice of cesarean section suggest the possibility of PPCM development. Factors such as advanced age, family history of cardiovascular disease, gestational diabetes mellitus, eclampsia, anemia, and hypoproteinemia should be considered. Clinically, patients present with cough, wheezing, chest tightness, enlarged left heart, valvular insufficiency and NT-proBNP elevated ≥ 400 pg/mL. This study could serve as a valuable reference for medical practitioners for the early identification and screening of patients with PPCM.

[Analysis of 14 cases of sarcoidosis of head and neck].

Objective:To explore the clinical characteristics of sarcoidosis of head and neck symptoms, and to summarize the diagnosis and treatment experience. Methods:A retrospective study was conducted on patients with nodular disease with main symptoms in the head and neck who visited Henan Provincial People's Hospital from January 2020 to August 2023. The clinical data including symptom characteristics, pathological characteristics, treatment methods, and prognosis were analyzed. Results:A total of 14 patients were included, with 4 males（28.6%） and 10 females（71.4%）, age ranged from 11 to 71 years, with an average age of（52.0±15.8） years. The lesions were located in the parotid gland in 2 cases and the neck in 12 cases. Twelve cases underwent neck mass resection surgery, and 2 cases underwent ultrasound-guided core biopsy of parotid gland tumor and postoperative pathological diagnosis was confirmed in all cases. Four cases received steroid treatment postoperatively, and showed good prognosis with reduced lesion size after 3 months. Three cases did not take medication and the lesions continued to persist, causing discomfort. Seven cases did not take medication postoperatively, and the lesions expanded with multi-organ progression. Conclusion:Patients with head and neck sarcoidosis are rare in clinical practice, and it is prone to misdiagnosis and missed diagnosis. Steroid therapy can achieve good therapeutic effects.