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1.
Article in English | MEDLINE | ID: mdl-38959955

ABSTRACT

Objectives: Since nasal valve surgery for internal nasal valve (INV) compromise has gained popularity, controversies over its indications and insurance coverage disputes have emerged due to the absence of a gold-standard evaluation. Therefore, we aimed to identify the objective parameters for the INV compromise. Methods: We analyzed 186 INVs in 93 patients who underwent nasal valve surgery. The data included facial computed tomography images, acoustic rhinometry, modified Cottle test, and symptom scores. The patients were categorized based on their symptoms and modified Cottle's test results. We measured the INV angle, area, volume, lateral wall thickness, septal angle, and nasal bone area using computed tomography (CT). Results: The compromised INV group (nasal obstruction with a positive modified Cottle test) was characterized by smaller INV areas on both the coronal and axial views, smaller INV volume on the axial view, and thinner lateral wall on the coronal view (all P < 0.05). Acoustic rhinometry revealed a smaller minimal cross-sectional area and volume in the compromised INV group (both P < .001). Regression analysis revealed significant associations between a compromised INV and the INV area on the axial view and the minimal cross-sectional area on acoustic rhinometry. Conclusion: Relying solely on the INV angle in CT scans has limitations in assessing compromised INV. Instead, the INV area on axial CT scans and the minimal crosssectional area on acoustic rhinometry hold potential as objective parameters for evaluating INV compromise.

2.
Biomedicines ; 12(6)2024 May 26.
Article in English | MEDLINE | ID: mdl-38927388

ABSTRACT

Amid the deepening imbalance in the supply and demand of allogeneic organs, xenotransplantation can be a practical alternative because it makes an unlimited supply of organs possible. However, to perform xenotransplantation on patients, the source animals to be used must be free from infectious agents. This requires the breeding of animals using assisted reproductive techniques, such as somatic cell nuclear transfer, embryo transfer, and cesarean section, without colostrum derived in designated pathogen-free (DPF) facilities. Most infectious agents can be removed from animals produced via these methods, but several viruses known to pass through the placenta are not easy to remove, even with these methods. Therefore, in this narrative review, we examine the characteristics of several viruses that are important to consider in xenotransplantation due to their ability to cross the placenta, and investigate how these viruses can be detected. This review is intended to help maintain DPF facilities by preventing animals infected with the virus from entering DPF facilities and to help select pigs suitable for xenotransplantation.

3.
Health Informatics J ; 30(2): 14604582241259341, 2024.
Article in English | MEDLINE | ID: mdl-38847787

ABSTRACT

This study develops machine learning-based algorithms that facilitate accurate prediction of cerebral oxygen saturation using waveform data in the near-infrared range from a multi-modal oxygen saturation sensor. Data were obtained from 150,000 observations of a popular cerebral oximeter, Masimo O3™ regional oximetry (Co., United States) and a multi-modal cerebral oximeter, Votem (Inc., Korea). Among these observations, 112,500 (75%) and 37,500 (25%) were used for training and test sets, respectively. The dependent variable was the cerebral oxygen saturation value from the Masimo O3™ (0-100%). The independent variables were the time of measurement (0-300,000 ms) and the 16-bit decimal amplitudes values (infrared and red) from Votem (0-65,535). For the right part of the forehead, the root mean square error of the random forest (0.06) was much smaller than those of linear regression (1.22) and the artificial neural network with one, two or three hidden layers (2.58). The result was similar for the left part of forehead, that is, random forest (0.05) vs logistic regression (1.22) and the artificial neural network with one, two or three hidden layers (2.97). Machine learning aids in accurately predicting of cerebral oxygen saturation, employing the data from a multi-modal cerebral oximeter.


Subject(s)
Machine Learning , Oximetry , Oxygen Saturation , Humans , Oximetry/methods , Oximetry/instrumentation , Oximetry/statistics & numerical data , Oxygen Saturation/physiology , Algorithms , Female , Male , Oxygen/metabolism , Oxygen/analysis
4.
AMIA Jt Summits Transl Sci Proc ; 2024: 249-257, 2024.
Article in English | MEDLINE | ID: mdl-38827054

ABSTRACT

In the rapidly evolving field of healthcare, the integration of artificial intelligence (AI) has become a pivotal component in the automation of clinical workflows, ushering in a new era of efficiency and accuracy. This study focuses on the transformative capabilities of the fine-tuned KoELECTRA model in comparison to the GPT-4 model, aiming to facilitate automated information extraction from thyroid operation narratives. The current research landscape is dominated by traditional methods heavily reliant on regular expressions, which often face challenges in processing free-style text formats containing critical details of operation records, including frozen biopsy reports. Addressing this, the study leverages advanced natural language processing (NLP) techniques to foster a paradigm shift towards more sophisticated data processing systems. Through this comparative study, we aspire to unveil a more streamlined, precise, and efficient approach to document processing in the healthcare domain, potentially revolutionizing the way medical data is handled and analyzed.

5.
Article in English | MEDLINE | ID: mdl-38866622

ABSTRACT

BACKGROUND AND AIMS: Vitamin D is known to influence the risk of cardiovascular disease, which is a recognized risk factor for sudden cardiac arrest (SCA). However, the relationship between vitamin D and SCA is not well understood. Therefore, this study aims to investigate the association between vitamin D and SCA in out-of-hospital cardiac arrest (OHCA) patients compared to healthy controls. METHODS AND RESULTS: Using the Phase II Cardiac Arrest Pursuit Trial with Unique Registration and Epidemiologic Surveillance (CAPTURES II) registry, a 1:1 propensity score-matched case-control study was conducted between 2017 and 2020. Serum 25-hydroxyvitamin D (vitamin D) levels in patients with OHCA (454 cases) and healthy controls (454 cases) were compared after matching for age, sex, cardiovascular risk factors, and lifestyle behaviors. The mean vitamin D levels were 14.5 ± 7.6 and 21.3 ± 8.3 ng/mL among SCA cases and controls, respectively. Logistic regression analysis was used adjusting for cardiovascular risk factors, lifestyle behaviors, corrected serum calcium levels, and estimated glomerular filtration rate (eGRF). The adjusted odds ratio (aOR) for vitamin D was 0.89 (95% confidence interval [CI] 0.87-0.91). The dose-response relationship demonstrated that vitamin D deficiency was associated with SCA incidence (severe deficiency, aOR 10.87, 95% CI 4.82-24.54; moderate deficiency, aOR 2.24, 95% CI 1.20-4.20). CONCLUSION: Vitamin D deficiency was independently and strongly associated with an increased risk of SCA, irrespective of cardiovascular and lifestyle factors, corrected calcium levels, and eGFR.

6.
Nutrients ; 16(12)2024 Jun 12.
Article in English | MEDLINE | ID: mdl-38931199

ABSTRACT

Saikosaponin D (SSD), derived from Bupleurum falcatum L., has various pharmacological properties, including immunoregulatory, anti-inflammatory, and anti-allergic effects. Several studies have investigated the anti-tumor effects of SSD on cancer in multiple organs. However, its role in colorectal cancer (CRC) remains unclear. Therefore, this study aimed to elucidate the suppressive effects of SSD on CRC cell survival and metastasis. SSD reduced the survival and colony formation ability of CRC cells. SSD-induced autophagy and apoptosis in CRC cells were measured using flow cytometry. SSD treatment increased LC3B and p62 autophagic factor levels in CRC cells. Moreover, SSD-induced apoptosis occurred through the cleavage of caspase-9, caspase-3, and PARP, along with the downregulation of the Bcl-2 family. In the in vivo experiment, a reduction in the number of metastatic tumor nodules in the lungs was observed after the oral administration of SSD. Based on these results, SSD inhibits the metastasis of CRC cells to the lungs by inducing autophagy and apoptosis. In conclusion, SSD suppressed the proliferation and metastasis of CRC cells, suggesting its potential as a novel substance for the metastatic CRC treatment.


Subject(s)
Apoptosis , Autophagy , Colorectal Neoplasms , Lung Neoplasms , Oleanolic Acid , Saponins , Saponins/pharmacology , Oleanolic Acid/pharmacology , Oleanolic Acid/analogs & derivatives , Autophagy/drug effects , Colorectal Neoplasms/pathology , Colorectal Neoplasms/drug therapy , Apoptosis/drug effects , Humans , Lung Neoplasms/secondary , Lung Neoplasms/drug therapy , Lung Neoplasms/pathology , Animals , Cell Line, Tumor , Cell Proliferation/drug effects , Mice , Mice, Inbred BALB C , Antineoplastic Agents, Phytogenic/pharmacology , Xenograft Model Antitumor Assays , Cell Survival/drug effects , Mice, Nude
7.
Eur J Pharmacol ; 977: 176721, 2024 Aug 15.
Article in English | MEDLINE | ID: mdl-38851561

ABSTRACT

Underactive bladder (UAB), characterized by a complex set of symptoms with few treatment options, can significantly reduce the quality of life of affected people. UAB is characterized by hyperplasia and fibrosis of the bladder wall as well as decreased bladder compliance. Pirfenidone is a powerful anti-fibrotic agent that inhibits the progression of fibrosis in people with idiopathic pulmonary fibrosis. In the current study, we evaluated the efficacy of pirfenidone in the treatment of bladder fibrosis in a UAB rat model. UAB was induced by crushing damage to nerve bundles in the major pelvic ganglion. Forty-two days after surgery, 1 mL distilled water containing pirfenidone (100, 300, or 500 mg/kg) was orally administered once every 2 days for a total of 10 times for 20 days to the rats in the pirfenidone-treated groups. Crushing damage to the nerve bundles caused voiding dysfunction, resulting in increased bladder weight and the level of fibrous related factors in the bladder, leading to UAB symptoms. Pirfenidone treatment improved urinary function, increased bladder weight and suppressed the expression of fibrosis factors. The results of this experiment suggest that pirfenidone can be used to ameliorate difficult-to-treat urological conditions such as bladder fibrosis. Therefore, pirfenidone treatment can be considered an option to improve voiding function in patient with incurable UAB.


Subject(s)
Fibrosis , Pyridones , Rats, Sprague-Dawley , Urinary Bladder, Underactive , Urinary Bladder , Urination , Animals , Pyridones/pharmacology , Pyridones/therapeutic use , Urinary Bladder/drug effects , Urinary Bladder/pathology , Urinary Bladder/physiopathology , Rats , Urination/drug effects , Urinary Bladder, Underactive/drug therapy , Urinary Bladder, Underactive/physiopathology , Urinary Bladder, Underactive/etiology , Disease Models, Animal , Female , Male
8.
Helicobacter ; 29(3): e13084, 2024.
Article in English | MEDLINE | ID: mdl-38717034

ABSTRACT

BACKGROUND: Recently, a simple tailored therapy based on clarithromycin resistance has been implemented as Helicobacter pylori (H. pylori) eradication therapy. Nonetheless, despite the tailored therapy and frequent adverse events, studies on treatment period are lacking. This study aimed to compare the H. pylori eradication rates of 7-day and 14-day tailored therapy regimens according to clarithromycin resistance. MATERIALS AND METHODS: This multicenter, prospective, randomized, noninferiority trial enrolled H. pylori-positive patients who were randomly assigned to 7-day and 14-day regimen groups, depending on the presence or absence of clarithromycin resistance by 23S rRNA gene point mutations. Standard triple therapy (STT) (20 mg rabeprazole, 1 g amoxicillin, and 500 mg clarithromycin twice daily) or bismuth quadruple therapy (BQT) (20 mg rabeprazole twice daily, 500 mg metronidazole thrice daily, 120 mg bismuth four times daily, and 500 mg tetracycline four times daily) was assigned by clarithromycin resistance. Eradication rates and adverse events were evaluated. RESULTS: A total of 314 and 278 patients were included in the intention-to-treat (ITT) and per-protocol (PP) analyses, respectively; however, 31 patients were lost to follow-up, whereas five patients violated the protocol. Both the 7-day and 14-day regimens showed similar eradication rates in the ITT (7-day vs. 14-day: 78.3% vs. 78.3%, p > 0.99) and PP (87.9% vs. 89.1%, p = 0.851) analyses. Non-inferiority was confirmed (p < 0.025). A subgroup analysis according to clarithromycin resistance (clarithromycin resistance rate: 28.7%) revealed no significant difference in eradication rates between the 7-day and 14-day STT (90.0% vs. 90.1%, p > 0.99) and BQT (82.5% vs. 86.5%, p = 0.757). Furthermore, adverse events did not significantly differ between the two groups. CONCLUSIONS: The 7-day triple and quadruple therapy according to clarithromycin resistance showed similar eradication rates, as compared to the 14-day therapy.


Subject(s)
Anti-Bacterial Agents , Clarithromycin , Drug Resistance, Bacterial , Helicobacter Infections , Helicobacter pylori , Humans , Helicobacter Infections/drug therapy , Helicobacter Infections/microbiology , Clarithromycin/therapeutic use , Clarithromycin/pharmacology , Helicobacter pylori/drug effects , Helicobacter pylori/genetics , Male , Female , Anti-Bacterial Agents/therapeutic use , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/adverse effects , Anti-Bacterial Agents/pharmacology , Middle Aged , Adult , Prospective Studies , Drug Therapy, Combination , Aged , Treatment Outcome , Rabeprazole/therapeutic use , Rabeprazole/administration & dosage , Bismuth/therapeutic use , Bismuth/administration & dosage , RNA, Ribosomal, 23S/genetics
9.
Front Endocrinol (Lausanne) ; 15: 1352552, 2024.
Article in English | MEDLINE | ID: mdl-38699383

ABSTRACT

Congenital adrenal hyperplasia (CAH) and Williams Syndrome (WS; MIM # 194050) are distinct genetic conditions characterized by unique clinical features. 21-Hydroxylase deficiency (21-OHD; MIM #201910), the most common form of CAH, arises from mutations in the CYP21A2 gene, resulting in virilization of the external genitalia in affected females, early puberty in males, and short stature. Williams syndrome, caused by a microdeletion of 7q11.23, presents with distinctive facial features, intellectual disability, unique personality traits, early puberty, and short stature. This case report describe the clinical features of a 4-year-old girl referred due to progressive virilization and developmental delay. Genetic analysis confirmed concurrent CAH and WS, identifying a novel mutation in the CYP21A2 gene (c.1442T>C). Following corticosteroid therapy initiation, the patient developed central precocious puberty. This case report delves into the pubertal change patterns in a patient affected by overlapping genetic conditions, providing valuable insights in to the intricate clinical manifestation and management of these rare complex disorders.


Subject(s)
Adrenal Hyperplasia, Congenital , Puberty, Precocious , Virilism , Williams Syndrome , Humans , Female , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/genetics , Puberty, Precocious/diagnosis , Puberty, Precocious/genetics , Puberty, Precocious/etiology , Williams Syndrome/complications , Williams Syndrome/genetics , Williams Syndrome/diagnosis , Child, Preschool , Virilism/genetics , Virilism/diagnosis , Steroid 21-Hydroxylase/genetics , Mutation
10.
Article in English | MEDLINE | ID: mdl-38738274

ABSTRACT

Hematuria is a relatively common condition among school-aged children. Because international guidelines for asymptomatic hematuria in children are unavailable, developing practical guidelines for the diagnosis and management of asymptomatic hematuria based on scientific evidence while considering real-world practice settings, values, and patient and physician preferences is essential. The Korean Society of Pediatric Nephrology developed clinical guidelines to address key questions regarding the diagnosis and management of asymptomatic hematuria in children.

12.
PLoS One ; 19(5): e0303355, 2024.
Article in English | MEDLINE | ID: mdl-38787813

ABSTRACT

In this study, we propose a generative data augmentation technique to overcome the challenges of severely limited data when designing a deep learning-based automated strabismus diagnosis system. We implement a generative model based on the StyleGAN2-ADA model for system design and assess strabismus classification performance using two classifiers. We evaluate the capability of our proposed method against traditional data augmentation techniques and confirm a substantial enhancement in performance. Furthermore, we conduct experiments to explore the relationship between the diagnosis agreement among ophthalmologists and the generation performance of the generative model. Beyond FID, we validate the generative samples on the classifier to establish their practicality. Through these experiments, we demonstrate that the generative model-based data augmentation improves overall quantitative performance in scenarios of extreme data scarcity and effectively mitigates overfitting issues during deep learning model training.


Subject(s)
Deep Learning , Strabismus , Humans , Strabismus/diagnosis , Strabismus/classification , Algorithms
13.
Sci Rep ; 14(1): 11646, 2024 05 21.
Article in English | MEDLINE | ID: mdl-38773181

ABSTRACT

The study investigated the feasibility of robotic bilateral axillo-breast approach (BABA) thyroidectomy for patients with thyroid tumors larger than 4 cm. BABA thyroidectomy has previously shown safety and effectiveness for thyroid surgeries but lacked extensive data on its application to larger tumors. Between October 2008 and August 2022, there were 74 patients underwent robotic BABA thyroidectomy due to thyroid nodules exceeding 4 cm in size. The mean patient age was 40.3 years. Fine needle aspiration results classified the tumors as benign (50.0%), atypia of undetermined significance (27.0%), follicular neoplasm (16.2%), suspicious for malignancy/malignancy (5.4%), or lymphoma (1.4%). The average tumor size was 4.9 cm, with the majority (85.1%) undergoing thyroid lobectomy, and the rest (14.9%) receiving total thyroidectomy. The mean total operation time was 178.4 min for lobectomy and 207.3 min for total thyroidectomy. Transient vocal cord palsy (VCP) was found in 3 patients (4.1%), and there was no permanent VCP. Among patients who underwent total thyroidectomy, transient hypoparathyroidism was observed in three (27.2%), and permanent hypoparathyroidism was observed in one (9.1%). There were no cases of open conversion, tumor spillage, bleeding, flap injury, or tumor recurrence. In conclusion, robotic BABA thyroidectomy may be a safe treatment option for large-sized thyroid tumors that carries no significant increase in complication rates.


Subject(s)
Robotic Surgical Procedures , Thyroid Neoplasms , Thyroidectomy , Humans , Thyroidectomy/methods , Thyroidectomy/adverse effects , Female , Robotic Surgical Procedures/methods , Robotic Surgical Procedures/adverse effects , Adult , Thyroid Neoplasms/surgery , Thyroid Neoplasms/pathology , Male , Middle Aged , Treatment Outcome , Axilla , Aged , Breast/surgery , Breast/pathology , Young Adult , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Operative Time
14.
J Anim Sci Technol ; 66(1): 156-166, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38618033

ABSTRACT

Pigs are genetically, anatomically, and physiologically similar to humans. Recently, pigs are in the spotlight as a suitable source animal for xenotransplantation. However, to use pigs as source animals, pigs should be raised in designated pathogen-free facilities. There is abundant data from embryo transfer (ET) experiments using farm pigs as surrogates, but data on ET experiments using minipigs are scarce. Eighty minipigs were used for ET experiments and after transplantation, the implantation and delivery rates were investigated. It was also confirmed whether the pregnancy rate could be increased by changing the condition or surgical method of the surrogate. In the case of minipigs that gave birth, the size of the fetal sac on the 28th day of ET was also measured. The factors that can affect the pregnancy rate such as estrus synchronization program, ovulation status at the time of ET, the number of repeated ET surgeries, and the ET sites, were changed, and the differences on the pregnancy rate were observed. However there were no significant differences in pregnancy rate in minipigs. The diameter of the implanted fetal sac on the 28th day after ET in the minipigs whose delivery was confirmed was calculated to be 4.7 ± 0.5 cm. In conclusion, there were no significant differences in pregnancy rate of minipigs in the comparative experiment on various factors affecting the pregnancy rate. However, additional experiments and analyses are needed due to the large individual differences of the minipigs.

15.
Ann Surg Treat Res ; 106(4): 203-210, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38586553

ABSTRACT

Purpose: Bilateral axillo-breast approach robotic parathyroidectomy (BABA-RP) aims to remove overactive or enlarged parathyroid glands with no visible neck collar incision. In this study, we compared the safety and surgical outcomes of BABA-RP vs. those of an open surgery group to ascertain whether BABA-RP is a safe and feasible surgical approach for patients with primary hyperparathyroidism (pHPT). Methods: This single-institution retrospective cohort study included 74 patients with primary HPT who underwent open parathyroidectomy (n = 37) or BABA-RP (n = 37) at our institution between November 2014 and March 2023. Patient demographics, biochemical cure rates, operative time, blood loss rates, and complication rates were examined and compared. Results: The patients in the BABA-RP group were younger and had a longer mean operative time. Regarding complication events, 2 patients in the open surgery group and 1 patient in the BABA-RP group had transient hypoparathyroidism. All 74 patients achieved biochemical cure at <6 months, regardless of the approach used. Two patients in the BABA-RP group and 1 patient in the open surgery group had carcinoma on surgical pathology. All 3 patients with parathyroid carcinoma remained recurrence-free at 1-year follow-up. Conclusion: Compared with the open procedure, BABA-RP is a safe and feasible procedure that provides an excellent biochemical cure rate for patients with pHPT and has superior cosmetic benefits with equivalent surgical outcomes.

16.
BMC Emerg Med ; 24(1): 51, 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38561666

ABSTRACT

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic resulted in significant disruptions to critical care systems globally. However, research on the impact of the COVID-19 pandemic on intensive care unit (ICU) admissions via the emergency department (ED) is limited. Therefore, this study evaluated the changes in the number of ED-to-ICU admissions and clinical outcomes in the periods before and during the pandemic. METHODS: We identified all adult patients admitted to the ICU through level 1 or 2 EDs in Korea between February 2018 and January 2021. February 2020 was considered the onset point of the COVID-19 pandemic. The monthly changes in the number of ED-to-ICU admissions and the in-hospital mortality rates before and during the COVID-19 pandemic were evaluated using interrupted time-series analysis. RESULTS: Among the 555,793 adult ED-to-ICU admissions, the number of ED-to-ICU admissions during the pandemic decreased compared to that before the pandemic (step change, 0.916; 95% confidence interval [CI] 0.869-0.966], although the trend did not attain statistical significance (slope change, 0.997; 95% CI 0.991-1.003). The proportion of patients who arrived by emergency medical services, those transferred from other hospitals, and those with injuries declined significantly among the number of ED-to-ICU admissions during the pandemic. The proportion of in-hospital deaths significantly increased during the pandemic (step change, 1.054; 95% CI 1.003-1.108); however, the trend did not attain statistical significance (slope change, 1.001; 95% CI 0.996-1.007). Mortality rates in patients with an ED length of stay of ≥ 6 h until admission to the ICU rose abruptly following the onset of the pandemic (step change, 1.169; 95% CI 1.021-1.339). CONCLUSIONS: The COVID-19 pandemic significantly affected ED-to-ICU admission and in-hospital mortality rates in Korea. This study's findings have important implications for healthcare providers and policymakers planning the management of future outbreaks of infectious diseases. Strategies are needed to address the challenges posed by pandemics and improve the outcomes in critically ill patients.


Subject(s)
COVID-19 , Pandemics , Adult , Humans , Patient Admission , COVID-19/epidemiology , Intensive Care Units , Emergency Service, Hospital , Republic of Korea/epidemiology , Retrospective Studies
17.
J Intern Med ; 296(1): 68-79, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38659304

ABSTRACT

BACKGROUND: The prevalence of metastatic pheochromocytoma and paraganglioma (PPGL) is approximately 15%-20%. Although there are indicators to assess metastatic risks, none of them predict metastasis reliably. Therefore, we aimed to develop and validate a scoring system using clinical, genetic, and biochemical risk factors to preoperatively predict the metastatic risk of PPGL. METHODS: In the cross-sectional cohort (n = 180), clinical, genetic, and biochemical risk factors for metastasis were identified using multivariate logistic regression analysis, and a novel scoring system was developed. The scoring system was validated and compared with the age, size of tumor, extra-adrenal location, and secretory type (ASES) score in the longitudinal cohort (n = 114). RESULTS: In the cross-sectional cohort, pseudohypoxia group-related gene variants (SDHB, SDHD, or VHL), methoxytyramine >0.16 nmol/L, and tumor size >6.0 cm were independently associated with metastasis after multivariate logistic regression. Using them, the gene variant, methoxytyramine, and size of tumor (GMS) score were developed. In the longitudinal cohort, Harrell's concordance index of the GMS score (0.873, 95% confidence interval [CI]: 0.738-0.941) was higher than that of the ASES score (0.713, 95% CI: 0.567-0.814, p = 0.007). In the longitudinal cohort, a GMS score ≥2 was significantly associated with a higher risk of metastasis (hazard ratio = 25.07, 95% CI: 5.65-111.20). A GMS score ≥2 (p < 0.001), but not ASES score ≥2 (p = 0.090), was associated with shorter progression-free survival. CONCLUSION: The GMS scoring system, which integrates gene variant, methoxytyramine level, and tumor size, provides a valuable preoperative approach to assess metastatic risk in PPGL.


Subject(s)
Adrenal Gland Neoplasms , Biomarkers, Tumor , Paraganglioma , Pheochromocytoma , Humans , Pheochromocytoma/genetics , Pheochromocytoma/pathology , Adrenal Gland Neoplasms/genetics , Adrenal Gland Neoplasms/pathology , Male , Female , Middle Aged , Paraganglioma/genetics , Paraganglioma/pathology , Cross-Sectional Studies , Adult , Biomarkers, Tumor/genetics , Succinate Dehydrogenase/genetics , Risk Factors , Von Hippel-Lindau Tumor Suppressor Protein/genetics , Cohort Studies , Metanephrine/urine , Metanephrine/blood , Longitudinal Studies , Neoplasm Metastasis , Aged , Tumor Burden , Dopamine/analogs & derivatives
18.
Hematology ; 29(1): 2343163, 2024 Dec.
Article in English | MEDLINE | ID: mdl-38655690

ABSTRACT

BACKGROUND: Congenital dyserythropoietic anemia Ⅱ (CDA Ⅱ) is a rare inherited disorder of defective erythropoiesis caused by SEC23B gene mutation. CDA Ⅱ is often misdiagnosed as a more common type of clinically related anemia, or it remains undiagnosed due to phenotypic variability caused by the coexistence of inherited liver diseases, including Gilbert's syndrome (GS) and hereditary hemochromatosis. METHODS: We describe the case of a boy with genetically undetermined severe hemolytic anemia, hepatosplenomegaly, and gallstones whose diagnosis was achieved by targeted next generation sequencing. RESULTS: Molecular analysis revealed a maternally inherited novel intronic variant and a paternally inherited missense variant, c.[994-3C > T];[1831C > T] in the SEC23B gene, confirming diagnosis of CDA Ⅱ. cDNA analysis verified that the splice acceptor site variant results in two mutant transcripts, one with an exon 9 skip and one in which exons 9 and 10 are deleted. SEC23B mRNA levels in the patient were lower than those in healthy controls. The patient was also homozygous for the UGT1A1*6 allele, consistent with GS. CONCLUSION: Identification of the novel splice variant in this study further expands the spectrum of known SEC23B gene mutations. Molecular genetic approaches can lead to accurate diagnosis and management of CDA Ⅱ patients, particularly for those with GS coexisting.


Subject(s)
Anemia, Dyserythropoietic, Congenital , Gilbert Disease , Vesicular Transport Proteins , Humans , Anemia, Dyserythropoietic, Congenital/genetics , Anemia, Dyserythropoietic, Congenital/diagnosis , Male , Vesicular Transport Proteins/genetics , Gilbert Disease/genetics , Gilbert Disease/complications , Gilbert Disease/diagnosis , RNA Splicing , Mutation
19.
Leg Med (Tokyo) ; 69: 102447, 2024 Apr 16.
Article in English | MEDLINE | ID: mdl-38640874

ABSTRACT

This study aimed to estimate A-STR mutation rates in 2,317 Korean parent-child trios by examining 20 Combined DNA Index System (CODIS) core loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, CSF1PO, FGA, TH01, TPOX, vWA, D1S1656, D2S441, D2S1338, D10S1248, D12S391, D19S433, and D22S1045) and three non-CODIS loci (Penta E, Penta D, and SE33). Locus-specific mutation rate estimates varied from 0.00 to 8.63 × 10-3 per generation, with an average mutation rate of 1.62 × 10-3 (95 % CI, 1.39-1.88 × 10-3). We also combined data from previous studies to obtain comprehensive genetic values for the Korean population, and the average mutation rate was 1.59 × 10-3 (95 % CI, 1.38-1.82 × 10-3). Single-step mutations (95.69 %) and double-step mutations (3.35 %) were observed in the mutation pattern analysis, and cases expected to have multi-step mutations (0.96 %) were also observed. Large-sized alleles exhibited more loss mutations than gain mutations, and paternal mutations (62.68 %) were more frequently observed than maternal mutations (19.62 %). The calculated values and features of the 23 A-STRs explored in this study are expected to play a crucial role in establishing criteria for forensic genetic interpretation.

20.
Int J Surg ; 110(6): 3425-3432, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38498353

ABSTRACT

PURPOSE: This study aimed to investigate the effectiveness of a novel wound protector in enhancing the cosmetic outcomes of thyroidectomy. MATERIAL AND METHODS: This multicenter, double-blinded randomized controlled trial enrolled 129 patients undergoing open thyroidectomy. The patients were divided into a wound protector group and a control group. Subjective patient assessments were conducted, measuring wound satisfaction, pain, and itchiness. Additionally, blinded observers evaluated scars using the Vancouver Scar Scale. RESULTS: The Vancouver Scar Scale revealed significant advantages for the wound protector group, demonstrating improvements in pigmentation ( P =0.002), vascularity ( P =0.014), pliability ( P =0.001), and height ( P =0.001). CONCLUSION: The thyroid wound protector offers a potential to improve postoperative cosmetic outcomes. Further research is warranted to explore patient experiences and optimize the application of this innovative wound protector across diverse surgical contexts.


Subject(s)
Cicatrix , Thyroidectomy , Humans , Thyroidectomy/adverse effects , Thyroidectomy/methods , Double-Blind Method , Female , Cicatrix/prevention & control , Cicatrix/etiology , Male , Middle Aged , Adult , Neck/surgery , Treatment Outcome
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