Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the absence of paternally expressed imprinted genes on chromosome 15q11–13. Individuals with PWS typically experience feeding difficulties and a lack of appetite in infancy, followed by weight gain, uncontrolled appetite, and a lack of satiety. Hyperphagia in PWS is exacerbated by impaired satiety, low energy expenditure, and intellectual difficulties, including obsessive-compulsive disorder and/or autistic behaviors.Without rigorous external management of their eating behaviors, patients with PWS become severely obese and are at a higher risk of obesity-related morbidities, such as type 2 diabetes, obstructive sleep apnea, and hypertension. Moreover, the main causes of death for PWS are obesity-related comorbidities, such as renal failure, pulmonary embolism, and respiratory and heart failure. Clinical experiences with different supplements, diets, and other methods have not been encouraging.However, therapeutic options for patients with PWS may be improving, based on recent clinical trials for a number of medications. This report reviews the causes and management of hyperphagia, as well as previous and recent clinical trials aimed at treating hyperplasia in PWS. We are optimistic that the novel treatments currently in development will help alleviate the complex metabolic issues associated with PWS.

Objective: Amid the coronavirus disease 2019 (COVID-19) pandemic, the pervasive threat of infection has heightened public and individual health concerns. In the context of instability, although the dysfunctional aspect of self-focus was prominent, preoccupation with viral infection was greater. This study explored the applicability of a cognitive-behavioral model of hypochondriasis to individuals infected with COVID-19 and assessed whether dysfunctional self-focus were associated with the development of preoccupation. Methods: An anonymous online survey was conducted via a professional survey platform in December 2022. Participants’ clinical characteristics and responses to rating scales were collected, including Obsession with COVID-19 Scale (OCS), Coronavirus Reassurance-Seeking Behaviors Scale (CRBS), Stress and Anxiety to Viral Epidemic-6 items (SAVE-6), Patient Health Questionnaire-2 items (PHQ-2), and Dysfunctional Self-focus Attributes Scale (DSAS). Results: Among the 265 participants, preoccupation with COVID-19 was predicted using CRBS (β=0.60, p<0.001), SAVE-6 (β=0.20, p=0.007), and PHQ-2 (β=0.13, p<0.001) scores. Mediation analysis revealed that viral anxiety influenced this COVID-19 preoccupation, with the relationship mediated by coronavirus reassurance-seeking behavior. Another analysis indicated that dysfunctional self-focus had a significant total effect on preoccupation with COVID-19. However, its direct impact was statistically insignificant, with the association primarily influenced by three mediating factors: viral anxiety, depression, and reassurance-seeking behavior. Conclusion Preoccupation with coronavirus is influenced by viral anxiety, depression, and reassurance-seeking behavior. Two mediation analyses showed that the application of the cognitive-behavioral model of hypochondriasis is feasible among COVID-19-infected cases and the association of dysfunctional self-focus with mediating factors. This finding highlights the need for personalized psychological support in managing COVID-19 cases.

BACKGROUND: The International Prognostic Index (IPI) has been a useful tool for predicting the prognosis of aggressive non-Hodgkin lymphoma in the last 20 years. Herein, we aimed to develop a new prognostic model for diffuse large B-cell lymphoma (DLBCL) in the rituximab era. METHODS: Between March 2004 and June 2012, patients with DLBCL treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone chemotherapy regimen were identified in the database of the Asan Medical Center (AMC) Lymphoma Registry. The primary and secondary endpoints were a new prognostic index for DLBCL and validation of the National Comprehensive Cancer Network-International Prognostic Index in our cohort, respectively. RESULTS: The AMC cohort comprised 621 patients. The median follow-up duration was 43.3 months (range, 6.2–122.5 mo). Univariate analysis revealed that age (≤60 vs. >60 yr), lactate dehydrogenase (LDH; within normal vs. increased), Eastern Cooperative Oncology Group performance status (ECOG PS; 0 or 1 vs. ≥2), advanced stage (Ann Arbor stage I/II vs. III/IV), extra-nodal involvement (≤1 vs. >1), B symptoms (no vs. yes), and beta-2 microglobulin (β2MG, ≤2.5 vs. >2.5) can be used to predict overall survival (OS). In multivariate analysis, only age, LDH, ECOG performance status, and β2MG were significantly associated with OS, and we developed a new prognostic model with these 4 factors. The new prognostic model showed better discriminative power compared with the classic IPI. CONCLUSION: Our new prognostic index model for DLBCL in the rituximab era has good discriminative power and is convenient to use.
B-Lymphocytes* ; Chungcheongnam-do ; Cohort Studies ; Cyclophosphamide ; Doxorubicin ; Drug Therapy ; Follow-Up Studies ; Humans ; L-Lactate Dehydrogenase ; Lymphoma ; Lymphoma, B-Cell* ; Lymphoma, Non-Hodgkin ; Multivariate Analysis ; Prednisolone ; Prognosis ; Rituximab* ; Vincristine

PURPOSE: The genus Aeromonas is a pathogen that is well known to cause severe clinical illnesses, ranging from gastroenteritis to sepsis. Accurate identification of A. hydrophila, A. caviae, and A. veronii is important for the care of patients. However, species identification remains difficult using conventional methods. The aim of this study was to compare the accuracy of different methods of identifying Aeromonas at the species level: a biochemical method, matrix-assisted laser desorption ionization mass spectrometry-time of flight (MALDI-TOF MS), 16S rRNA sequencing, and housekeeping gene sequencing (gyrB, rpoB). MATERIALS AND METHODS: We analyzed 65 Aeromonas isolates recovered from patients at a university hospital in Korea between 1996 and 2012. The isolates were recovered from frozen states and tested using the following four methods: a conventional biochemical method, 16S rRNA sequencing, housekeeping gene sequencing with phylogenetic analysis, and MALDI-TOF MS. RESULTS: The conventional biochemical method and 16S rRNA sequencing identified Aeromonas at the genus level very accurately, although species level identification was unsatisfactory. MALDI-TOF MS system correctly identified 60 (92.3%) isolates at the species level and an additional four (6.2%) at the genus level. Overall, housekeeping gene sequencing with phylogenetic analysis was found to be the most accurate in identifying Aeromonas at the species level. CONCLUSION: The most accurate method of identification of Aeromonas to species level is by housekeeping gene sequencing, although high cost and technical difficulty hinder its usage in clinical settings. An easy-to-use identification method is needed for clinical laboratories, for which MALDI-TOF MS could be a strong candidate.
Aeromonas/classification/*genetics/isolation & purification ; DNA, Bacterial/genetics ; Genes, Essential/*genetics ; Humans ; Molecular Typing/*methods ; Phylogeny ; RNA, Ribosomal, 16S/*genetics ; Republic of Korea ; Sensitivity and Specificity ; Sequence Analysis, DNA/*methods ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/*methods

BACKGROUND: Local steroid injection is used to treat carpal tunnel syndrome (CTS). The aim of this study was to evaluate the clinical and electrophysiological effects of local steroid injection in patients with CTS over a 3-months period. METHODS: Twenty-one patients (35 hands) with clinical and electrophysiological evidence of CTS were treated by injection of triamcinolone 40 mg to the carpal tunnel. Visual analog scale (VAS), Boston Carpal Tunnel Questionnaire (BCTQ), rates of paresthesia, night awakening, and electrophysiological studies were used as outcomes. Clinical and electrophysiological assessments were performed before, 1 and 3 months after treatment. RESULTS: Prior to treatment, 86% of patients complained of night awakening. At 1 and 3 months after injection, only 17% and 29% of the patients, respectively, had night awakening (p<0.001). All patients complained of paresthesia before the treatment. This symptom disappeared in 60% and 31% of the patients after 1 and 3 months, respectively (p<0.001). Compared to baseline, both BCTQ and VAS show significant improvement during the 3 months of the study (p<0.005). Although significant improvements in clinical parameters were shown, electrophysiological parameters were not significantly improved at 1 and 3 months. CONCLUSIONS: Local corticosteroid injection for the treatment of CTS provides significant improvement in symptoms for 3 months. On the other hand, no significant improvement was observed in electrophysiological parameters.
Boston ; Carpal Tunnel Syndrome ; Electrophysiology ; Hand ; Humans ; Paresthesia ; Triamcinolone

STUDY DESIGN: An experimental animal study. OBJECTIVES: To create a more appropriate disc degeneration model which shows how Interleukin 1alpha may induce the activation of metalloproteinases within the nucleus pulposus. SUMMARY OF LITERATURE REVIEW: There are few disc degeneration models wherein there is activation of metalloproteinases within the nucleus pulposus without structural destruction of the intervertebral disc. MATERIALS AND METHODS: Three consecutive intervertebral discs in New Zealand White Rabbits were exposed. Each disc was injected with 0.1ml of saline (Saline group), 0.1ml of 1microg/ml (IL-1 group), 0.1ml of 10microg/ml (IL-10 group) of IL-1alpha through a 30-gauge needle. The lumbar spine was harvested 12 weeks after operation. We then analyzed radiographic findings and histological changes. RESULTS: There was no difference in the radiological disc height index among the three groups; 0.071 in saline group, 0.045 in IL-1 group and 0.058 in IL-10 group (p=0.194). The histological cellularity of the nucleus pulposus revealed a decrease in the number of cells (p=0.0001, 1.42 in saline group vs. 3.00 in IL-10 group; p=0.001, 2.00 in IL-1 group and 3.00 in IL-10). The histological matrix of the nucleus pulposus was 1.42 in saline group and 2.42 in IL-10(p=0.007), which meant that there had been condensation of the extracellular nucleus pulposus matrix. CONCLUSIONS: The results of this study demonstrate that interleukin-1alpha may contribute to degradation of the nucleus pulposus. This is useful for future study into the effects of the cytokine inhibitor on matrix regeneration and cellularity in the nucleus pulposus in intervertebral disc disease.
Animals ; European Continental Ancestry Group ; Humans ; Interleukin-1 ; Interleukin-10 ; Interleukin-1alpha ; Intervertebral Disc ; Intervertebral Disc Degeneration ; Intervertebral Disc Displacement ; Metalloproteases ; Needles ; Rabbits ; Regeneration ; Spine

Next-generation sequencing (NGS) technologies have revolutionized genetic testing and enabled efficient screening of various genetic conditions in clinical settings. However, the clinical application of genetic test results presents numerous significant challenges. This review aims to provide a comprehensive overview of key concepts for the clinical application of NGS, including (1) technical aspects and limitations, (2) variant classification, (3) clinical interpretation, (4) familial testing and genetic counseling, and (5) ethical considerations.Current Concepts: In short-read-based NGS, several limitations exist in detecting genomic variations, including repetitive sequences or complex structural variations. The variant classification process can be influenced by suspected genomic conditions and the accessibility of genomic databases. Therefore, the final genetic diagnosis depends on the physician’s discretion, which relies on the genotype-phenotype correlations and reverse phenotyping through additional evaluations. Familial testing can help trace the origin of variants and allele segregation and aid in variant interpretation, risk assessment, disease prevention, and family planning. In addition to addressing the clinical impact of genetic results, genetic counselors should also consider potential consequences related to ethical, legal, and social issues, including family dynamics.Discussion and Conclusion: NGS-based genetic testing is a promising diagnostic tool for genetic disorders, but proper variant interpretation and clinical evaluation are crucial for optimal clinical practice. Notably, ethical considerations and regulatory measures are required to prepare for the next era of genomic medicine.

Background: Research on the status of many chemicals used in the semiconductor industry is needed. The purpose of this study was to describe the overall status of chemical use in the semiconductor industry in Korea and to examine it from a health perspective. Methods: Data on the status of chemical use and safety data sheets at 11 of 12 major semiconductor workplaces in Korea were collected. The number of chemical products and chemical constituents, quantities of chemicals, and trade secret ingredients used, as well as the health hazards were examined. Results: On average, 210 chemical products and 135 chemical constituents were used at the surveyed workplaces. Among all chemical products, 33% (range: 16–56%) contained at least one trade secret ingredient. Most of the trade secret ingredients were used in the photolithography process. Several carcinogens, including sulfuric acid, chromic acid, ethylene oxide, crystalline silica, potassium dichromate, and formaldehyde were also used. Only 29% (39 of 135) of the chemical constituents had occupational exposure limits, and more than 60% had no National Fire Protection Association health, safety, and reactivity ratings. Based on the aforementioned results, this study revealed the following. First, many chemical products and constituents are being used in the semiconductor industry and many products contained trade secret ingredients. Second, many products contained significant amounts of carcinogenic, mutagenic, and reproductive toxicant materials. Conclusion We conclude that protecting workers in the semiconductor industry against harm from chemical substances will be difficult, due to widespread use of trade secret ingredients and a lack of hazard information. The findings of the status of chemical use and the health and safety risks in semiconductor industry will contribute to epidemiological studies, safe workplace, and worker health protection.

Background: Research on the status of many chemicals used in the semiconductor industry is needed. The purpose of this study was to describe the overall status of chemical use in the semiconductor industry in Korea and to examine it from a health perspective. Methods: Data on the status of chemical use and safety data sheets at 11 of 12 major semiconductor workplaces in Korea were collected. The number of chemical products and chemical constituents, quantities of chemicals, and trade secret ingredients used, as well as the health hazards were examined. Results: On average, 210 chemical products and 135 chemical constituents were used at the surveyed workplaces. Among all chemical products, 33% (range: 16–56%) contained at least one trade secret ingredient. Most of the trade secret ingredients were used in the photolithography process. Several carcinogens, including sulfuric acid, chromic acid, ethylene oxide, crystalline silica, potassium dichromate, and formaldehyde were also used. Only 29% (39 of 135) of the chemical constituents had occupational exposure limits, and more than 60% had no National Fire Protection Association health, safety, and reactivity ratings. Based on the aforementioned results, this study revealed the following. First, many chemical products and constituents are being used in the semiconductor industry and many products contained trade secret ingredients. Second, many products contained significant amounts of carcinogenic, mutagenic, and reproductive toxicant materials. Conclusion We conclude that protecting workers in the semiconductor industry against harm from chemical substances will be difficult, due to widespread use of trade secret ingredients and a lack of hazard information. The findings of the status of chemical use and the health and safety risks in semiconductor industry will contribute to epidemiological studies, safe workplace, and worker health protection.