Background: and Purpose Epidemiological data on narcolepsy are rare in South Korea.We aimed to provide an overview of the burden of narcolepsy and its temporal trend in South Korea. Methods: Patients with narcolepsy were identified by their registration in the Rare and Intractable Disease (RID) register and the Health Insurance Review and Assessment database.Individuals registered in the RID program with the code V234 were considered as having ‘definite narcolepsy’, while those who claimed health insurance with G47.4 as the primary diagnostic code were considered as having ‘probable narcolepsy’. We estimated the annual prevalence, incidence, and medical costs of narcolepsy between 2010 and 2019. Results: The prevalence of definite narcolepsy was 8.4/100,000 in 2019, peaking at 32.0/100,000 in those aged 15–19 years. The prevalence was higher in males, with a relative risk of 1.72. The prevalence has increased over the past 6 years, with an average annual growth rate (AAGR) of 12.2%. The prevalence of probable narcolepsy was 10.7/100,000 in 2019. The incidence of definite narcolepsy increased up to 1.3/100,000 in 2019 with an AAGR of 7.1%. Annual medical expenditure for definite narcolepsy gradually increased up to 4.1 billion KRW in 2019, with a compound annual growth rate of 11.9%. Conclusions This study has provided the first nationwide estimates for narcolepsy in South Korea. The prevalence of diagnosed narcolepsy in South Korea was at the low end of the range of narcolepsy prevalence rates reported for other countries. However, the prevalence and incidence have been steadily increasing over the past decade.

Purpose: In this study, we investigated the prognostic implications of focal breast edema on preoperative breast magnetic resonance imaging (MRI) in patients with breast cancer. Methods: Data of 899 patients with breast cancer at a single institution were retrospectively analyzed. The patients were divided into an edema-positive group (EPG) and an edemanegative group (ENG) based on the presence of peritumoral, prepectoral, or subcutaneous edema. Two radiologists evaluated the presence or absence of focal edema and its subtypes on preoperative breast MRI. Clinicopathologic characteristics and survival outcomes were compared between the two groups and among the three subtypes using Pearson’s χ2 test, Kaplan–Meier estimator, and Cox proportional hazards model. Results: There were 399 (44.4%) and 500 (55.6%) patients in the EPG and ENG, respectively.The EPG showed significantly higher rates of axillary lymph node metastasis (55.6% vs.19.2%, p < 0.001) and lymphovascular invasion (LVI) (57.9% vs. 12.6%, p < 0.001) than the ENG. Patients in the EPG showed significantly worse overall survival (OS) rate (log-rank p < 0.001; hazard ratio [HR], 4.83; 95% confidence interval [CI], 2.56–9.11) and recurrencefree survival rate (log-rank p < 0.001; HR, 3.00; 95% CI, 1.94–4.63) than those in the ENG.After adjusting for other variables, focal breast edema remained a significant factor affecting the OS rate, regardless of the edema type. Specifically, the presence of subcutaneous edema emerged as the strongest predictor for OS with the highest HR (p < 0.001; HR, 9.10; 95% CI, 3.05–27.15). Conclusion Focal breast edema on preoperative breast MRI implies a higher possibility of LVI and axillary lymph node metastasis, which can lead to a poor prognosis. A detailed description of focal breast edema, especially subcutaneous edema, on preoperative breast MRI may provide prognostic predictions. More intensive surveillance is required for patients with breast cancer and focal preoperative breast edema.

OBJECTIVES: We examined whether pericardial adipose tissue (PAT) is predictive of prediabetes and type 2 diabetes over time. METHODS: In total, 2,570 adults without prediabetes/diabetes from the Coronary Artery Risk Development in Young Adults Study were followed up over 15 years. PAT volume was measured by computed tomography scans, and the new onset of prediabetes/diabetes was examined 5 years, 10 years, and 15 years after the PAT measurements. Multivariable Cox regression models were used to examine the association between the tertile of PAT and incident prediabetes/diabetes up to 15 years later. The predictive ability of PAT (vs. waist circumference [WC], body mass index [BMI], waist-to-height ratio [WHtR]) for prediabetes/diabetes was examined by comparing the area under the receiver operating characteristic curve (AUC). RESULTS: The highest tertile of PAT was associated with a 1.56 times (95% confidence interval [CI], 1.03 to 2.34) higher rate of diabetes than the lowest tertile; however, no association was found between the highest tertile of PAT and prediabetes in the fully adjusted models, including additional adjustment for BMI or WC. In the fully adjusted models, the AUCs of WC, BMI, WHtR, and PAT for predicting diabetes were not significantly different, whereas the AUC of WC for predicting prediabetes was higher than that of PAT. CONCLUSIONS PAT may be a significant predictor of hyperglycemia, but this association might depend on the effect of BMI or WC. Additional work is warranted to examine whether novel adiposity indicators can suggest advanced and optimal information to supplement the established diagnosis for prediabetes/diabetes.

A lateral neck mass can be the initial presentation of a papillary thyroid carcinoma. A 24-year-old female presented with a 2.0 x 2.0 cm, non-erythematous, non-tender, right lateral neck mass. A neck ultrasound showed an enlarged right jugulodigastric (Level II) lymph node and a normal-sized thyroid gland exhibiting mild parenchymal disease with no nodules. Positron emission tomography-computed tomography scan (PET-CT) showed an enlarged intensely fluorodeoxyglucose (FDG)-avid right level III lymph node, which may be primary versus metastatic. Fine-needle aspiration biopsy (FNAB) of the lymph node showed the presence of atypical cells that are highly suspicious for metastatic carcinoma. A cervical lymph node excision biopsy was performed and histopathology showed metastatic papillary thyroid carcinoma. The patient underwent total thyroidectomy with neck dissection. The final histopathologic examination of the thyroid gland revealed chronic lymphocytic thyroiditis with the lymph nodes negative for metastasis. She eventually underwent radioactive iodine ablation (RAI) with a dose of 30mCi. Post-RAI whole-body scan showed functioning thyroid tissue remnants with no distant metastasis. This case adds to the limited data that ectopic thyroid carcinoma can be present in patients who initially present with neck masses.
Thyroid Gland ; Carcinoma, Papillary

OBJECTIVES: To study the early clinical efficacy of combined therapy of stage 4 neuroblastoma. METHODS: A retrospective analysis was performed on the medical data and follow-up data of 14 children with stage 4 neuroblastoma who were diagnosed in Hong Kong University-Shenzhen Hospital from January 2016 to June 2021. RESULTS: The median age of onset was 3 years and 7.5 months in these 14 children. Among these children, 9 had positive results of bone marrow biopsy, 4 had N-Myc gene amplification, 13 had an increase in neuron-specific enolase, and 7 had an increase in vanilmandelic acid in urine. Based on the results of pathological examination, differentiated type was observed in 6 children, undifferentiated type in one child, mixed type, in one child and poorly differentiated type in 6 children. Of all the children, 10 received chemotherapy with the N7 regimen (including 2 children receiving arsenic trioxide in addition) and 4 received chemotherapy with the Rapid COJEC regimen. Thirteen children underwent surgery, 14 received hematopoietic stem cell transplantation, and 10 received radiotherapy. A total of 8 children received Ch14.18/CHO immunotherapy, among whom 1 child discontinued due to anaphylactic shock during immunotherapy, and the other 7 children completed Ch14.18/CHO treatment without serious adverse events, among whom 1 child was treated with Lu177 Dotatate 3 times after recurrence and is still undergoing chemotherapy at present. The median follow-up time was 45 months for all the 14 children. Four children experienced recurrence within 2 years, and the 2-year overall survival rate was 100%; 4 children experienced recurrence within 3 years, and 7 achieved disease-free survival within 3 years. CONCLUSIONS Multidisciplinary combined therapy is recommended for children with stage 4 neuroblastoma and can help them achieve better survival and prognosis.
Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Child ; Child, Preschool ; Combined Modality Therapy ; Humans ; Infant ; Neuroblastoma/drug therapy* ; Positron-Emission Tomography ; Radionuclide Imaging ; Retrospective Studies ; Treatment Outcome

Objective:To summarize the clinical characteristics, common images, pathogens, and gene mutation types of chronic granulomatosis disease (CGD) in 19 children.Methods:The clinical manifestations, laboratory findings, treatment, and prognosis of 19 patients diagnosed with CGD in Hong Kong University-Shenzhen Hospital from December 2012 to December 2018 were analyzed.Results:The 19 patients were all males and confirmed as CGD by the dihydrorhodamine test and gene sequencing.The age of the first infection was mostly 1 month after birth(13 cases), and the age of clinical diagnosis ranged from 2 months to 10 years.Sixteen mothers were carriers.The patients presented with pulmonary fungal infection (19/19 cases), Bacillus Calmette Guerin (BCG)-osis (14/19 cases), lymphadenitis (14/19 cases), perianal abscess (9/19 cases), skin abscess (5/19 cases) and ulcerative colitis (2/19 cases). There were 59 positive cultures.Pathogens included fungi (9 cases), Klebsiella pneumonia (8 cases), mycobacteria (7 cases), Streptococcus Viridans (5 cases), Escherichia coli (3 cases), gram-positive bacteria (3 cases), Staphylococcus aureus (3 cases), and Burkholderia cenocepacia (2 cases). Gene mutations were found in all 19 patients, including 17 cases of CYBB, 1 case of CYBA and 1 case of NCF2.The type of mutations included nonsense mutations (6 cases), deletion mutations (5 cases, including 2 large fragment deletions), splice mutations (3 cases) and missense mutations (5 cases). Five mutations were novel.Splice mutations in 3 cases often led to skin abscess, perianal abscess and lymphadenitis.Two patients with large deletion mutations had more serious infection than other patients. Conclusions:In China, CGD is characterized with pulmonary infection and disseminated BCG-osis.Mycobacteria are common pathogens of CGD, and fungi are dominant pathogens of CGD.The most common infection is respiratory infection. Klebsiella pneumonia and Escherichia coli often lead to perianal abscess.The relationship between gene mutation types and clinical phenotypes requires further verification by big data.

Neuromyelitis optica spectrum disorder (NMOSD) is a rare inflammatory demyelinating disease. Anti-aquaporin-4 antibodies serve as a specific biomarker, while other factors including antecedent infection may also play a role in the development of NMOSD. Abnormal cerebrospinal fluid (CSF) findings such as leukocytosis with concentration >50/mm3 are one of the characteristics of NMOSD, but these were not specific for identifying other infective neurological diseases. Here we describe a rare case of NMOSD with CSF findings suggestive of bacterial meningomyelitis.

BACKGROUND: AND PURPOSE: Shift workers frequently suffer from insomnia and mood disturbances, but little is known about the relationships of these conditions with the chronotypes and different working schedules of shift workers. We hypothesized that different shift-work schedules are associated with different severities of sleep and mood disturbances, and that the individual chronotype plays a role in sleep disturbances in shift workers. METHODS: This study enrolled 276 participants, comprising 77 nurses working in a three-shift schedule (3S, 27.9%), 60 firefighters working in a 24-h-every-other-day shift schedule (EOD, 21.7%), and 139 day workers (DW, 50.4%). All of the participants completed the following questionnaires to assess their sleep disturbances, mood, and chronotype: Insomnia Severity Index (ISI), Epworth Sleepiness Scale, Hospital Anxiety and Depression Scale, and Morningness-Eveningness Questionnaire. RESULTS: ISI questionnaires were worse in both shift workers compare to DW, 35.1% of 3S, 23% of EOD had clinically significant insomnia (ISI score >14). Depressive mood and anxiety symptom were significantly worse in 3S compare to EOD. The sleep disturbance by ISI score had significant correlations with depressive mood and anxiety symptoms for both EOD and 3S (EOD: rho=0.57, rho=0.57, 3S: rho=0.37, rho=0.33 respectively). Chronotype type in shift workers had no significant correlation with sleep disturbance, depressive mood, nor anxiety symptom. However, after adjustment, the eveningness chronotype have relationship to the depressive mood in shift workers. CONCLUSIONS Sleep disturbances are more frequent in shift workers than DW. Depressive mood and anxiety symptoms were frequently reported in 3S, then EOD. Different shift schedules cab be a determinant of depressive mood and anxiety symptom.

Objective:To analyze the clinical course and targeted therapy of pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.Methods:The clinical history of a 6-year-old boy with PAPA syndrome, who was admitted to Hong Kong University Shenzhen Hospital in September 2017, was reviewed. His genetic diagnosis was confirmed by whole exome sequencing. The response to targeted therapy was evaluated by comparing the inflammatory markers (erythrocyte sedimentation rate (ESR) and C reactive protein (CRP) and serum cytokines (interleukin (IL)-1, IL-6 and tumor necrosis factor-α (TNF-α)) before and after biological agents treatment. For literature review, "PAPA syndrome" and"PSTPIP1 gene"were used as keywords to retrieve papers published from January 1997 to December 2019 from Pubmed, Wanfang and CNKI database.Results:The patient was a 6-year-old boy, admitted to the hospital due to recurrent joint swelling and pain for more than 4 years. Before treatment, the CRP (256 mg/L), ESR (105 mm/1 h) and cytokines including serum TNF-α (7.43 ng/L), IL-1 (<5 ng/L), IL-6 (301 ng/L) were significantly elevated. Culture of the joint effusion was negative, but the IL-6 level was above 1 000 ng/L. MRI showed osteomyelitis at the lower end of the right femur. Gene detection found a heterozygous variation of PSTPIP1 gene (c.748G>A, p.E250K). Arthralgia once alleviated after the initiation of tocilizumab and infliximab, but recurred after 1 year of treatment. Thereafter, the anti-IL-1 receptor antagonist (Anakinra) was commenced, followed by a significant improvement of the arthralgia, and a complete remission during the follow-up. Besides, the level of CRP, ESR, serum TNF-α, IL-1 and IL-6 were all decreased to normal on the last followed up in December 2019. Literature review found 29 articles and 87 patients in total. The initial symptoms included those of arthritis ( n=58), pyoderma gangrenosum ( n=33), and acne ( n=24). Among all the cases, 13 genotypes were confirmed, and 47 variations involved amino acid p.E250. Steroid and/or biological agents were used in most patients. Conclusions:PAPA syndrome should be suspected in children with recurrent pyogenic sterile arthritis, and an early diagnosis could be achieved by genetic test. Targeted treatment with biological agent may control the symptoms effectively. Biological agents can control symptoms of this disorder effectively.

OBJECTIVE: To evaluate whether computed tomography (CT) reconstruction algorithms affect the CT texture features of the liver parenchyma. MATERIALS AND METHODS: This retrospective study comprised 58 patients (normal liver, n = 34; chronic liver disease [CLD], n = 24) who underwent liver CT scans using a single CT scanner. All CT images were reconstructed using filtered back projection (FBP), hybrid iterative reconstruction (IR) (iDOSE4), and model-based IR (IMR). On arterial phase (AP) and portal venous phase (PVP) CT imaging, quantitative texture analysis of the liver parenchyma using a single-slice region of interest was performed at the level of the hepatic hilum using a filtration-histogram statistic-based method with different filter values. Texture features were compared among the three reconstruction methods and between normal livers and those from CLD patients. Additionally, we evaluated the inter- and intra-observer reliability of the CT texture analysis by calculating intraclass correlation coefficients (ICCs). RESULTS: IR techniques affect various CT texture features of the liver parenchyma. In particular, model-based IR frequently showed significant differences compared to FBP or hybrid IR on both AP and PVP CT imaging. Significant variation in entropy was observed between the three reconstruction algorithms on PVP imaging (p < 0.05). Comparison between normal livers and those from CLD patients revealed that AP images depend more strongly on the reconstruction method used than PVP images. For both inter- and intra-observer reliability, ICCs were acceptable (> 0.75) for CT imaging without filtration. CONCLUSION: CT texture features of the liver parenchyma evaluated using the filtration-histogram method were significantly affected by the CT reconstruction algorithm used.
Entropy ; Filtration ; Humans ; Liver Diseases ; Liver ; Methods ; Retrospective Studies ; Tomography, X-Ray Computed