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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.
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Congenital hypothyroidism (CHT) is a diverse condition with various genetic etiologies. This study aimed to investigate the utility of next-generation sequencing (NGS) analysis in guiding treatment decisions and predicting prognosis for CHT patients with gland in situ (GIS). A retrospective analysis was conducted on 33 CHT patients with GIS who underwent NGS analysis at a single institution between 2018 and 2023. Patients were classified as having permanent (PCH), transient congenital hypothyroidism, or ambiguous congenital hypothyroidism (ACH) CHT based on their response to levothyroxine discontinuation at 3 years of age. Among the 33 patients, genetic variants were identified in 26, with the most prevalent variants found in DUOX2 (26.92%), TSHR (30.77%), TG (19.35%), and DUOXA2 (19.23%). Patients with high initial thyroid-stimulating hormone levels (>50 mIU/L) and low free thyroxine levels (<0.89 ng/dL) at diagnosis tended to have compound heterozygous or homozygous variants in DUOX2, DUOXA2, and TG, and were more likely to develop PCH. In contrast, patients with heterozygous variants in these genes often exhibited ACH. TSHR variants were associated with diverse clinical manifestations, ranging from PCH to ACH, and were more common in patients with initial thyroid-stimulating hormone levels <50 mIU/L. The study highlights the potential utility of NGS analysis in predicting the clinical course and guiding treatment decisions for CHT patients with GIS. Genetic analysis may aid in determining the appropriate duration of levothyroxine therapy and monitoring strategies, particularly in cases where traditional clinical indicators are inconclusive.
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Hipotireoidismo Congênito , Oxidases Duais , Sequenciamento de Nucleotídeos em Larga Escala , Receptores da Tireotropina , Tiroxina , Humanos , Hipotireoidismo Congênito/genética , Hipotireoidismo Congênito/tratamento farmacológico , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/sangue , Feminino , Masculino , Estudos Retrospectivos , Oxidases Duais/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Tiroxina/uso terapêutico , Receptores da Tireotropina/genética , Pré-Escolar , Lactente , Recém-Nascido , Tireoglobulina/genética , Tireoglobulina/sangue , Proteínas de MembranaRESUMO
Bone is a highly dynamic tissue undergoing continuous formation and resorption. Here, we investigated differential but complementary roles of hypoxia-inducible factor (HIF)-1α and HIF-2α in regulating bone remodeling. Using RNA-seq analysis, we identified that specific genes involved in regulating osteoblast differentiation were similarly but slightly differently governed by HIF-1α and HIF-2α. We found that increased HIF-1α expression inhibited osteoblast differentiation via inhibiting RUNX2 function by upregulation of Twist2, confirmed using Hif1a conditional knockout (KO) mouse. Ectopic expression of HIF-1α via adenovirus transduction resulted in the increased expression and activity of RANKL, while knockdown of Hif1a expression via siRNA or osteoblast-specific depletion of Hif1a in conditional KO mice had no discernible effect on osteoblast-mediated osteoclast activation. The unexpected outcome was elucidated by the upregulation of HIF-2α upon Hif1a overexpression, providing evidence that Hif2a is a transcriptional target of HIF-1α in regulating RANKL expression, verified through an experiment of HIF-2α knockdown after HIF-1α overexpression. The above results were validated in an ovariectomized- and aging-induced osteoporosis model using Hif1a conditional KO mice. Our findings conclude that HIF-1α plays an important role in regulating bone homeostasis by controlling osteoblast differentiation, and in influencing osteoclast formation through the regulation of RANKL secretion via HIF-2α modulation.
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Fatores de Transcrição Hélice-Alça-Hélice Básicos , Homeostase , Subunidade alfa do Fator 1 Induzível por Hipóxia , Camundongos Knockout , Osteoblastos , Animais , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Camundongos , Osteoblastos/metabolismo , Feminino , Osso e Ossos/metabolismo , Diferenciação Celular , Osteoclastos/metabolismo , Osteogênese/genética , Camundongos Endogâmicos C57BL , Osteoporose/genética , Osteoporose/metabolismoRESUMO
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.
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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.
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Fibrose , Piridonas , Ratos Sprague-Dawley , Bexiga Inativa , Bexiga Urinária , Micção , Animais , Piridonas/farmacologia , Piridonas/uso terapêutico , Bexiga Urinária/efeitos dos fármacos , Bexiga Urinária/patologia , Bexiga Urinária/fisiopatologia , Ratos , Micção/efeitos dos fármacos , Bexiga Inativa/tratamento farmacológico , Bexiga Inativa/fisiopatologia , Bexiga Inativa/etiologia , Modelos Animais de Doenças , Feminino , MasculinoRESUMO
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.
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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.
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Aprendizado de Máquina , Oximetria , Saturação de Oxigênio , Humanos , Oximetria/métodos , Oximetria/instrumentação , Oximetria/estatística & dados numéricos , Saturação de Oxigênio/fisiologia , Algoritmos , Feminino , Masculino , Oxigênio/metabolismo , Oxigênio/análiseRESUMO
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.
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Apoptose , Autofagia , Neoplasias Colorretais , Neoplasias Pulmonares , Ácido Oleanólico , Saponinas , Saponinas/farmacologia , Ácido Oleanólico/farmacologia , Ácido Oleanólico/análogos & derivados , Autofagia/efeitos dos fármacos , Neoplasias Colorretais/patologia , Neoplasias Colorretais/tratamento farmacológico , Apoptose/efeitos dos fármacos , Humanos , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/patologia , Animais , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Camundongos , Camundongos Endogâmicos BALB C , Antineoplásicos Fitogênicos/farmacologia , Ensaios Antitumorais Modelo de Xenoenxerto , Sobrevivência Celular/efeitos dos fármacos , Camundongos NusRESUMO
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.
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Biomarcadores , Morte Súbita Cardíaca , Parada Cardíaca Extra-Hospitalar , Sistema de Registros , Deficiência de Vitamina D , Vitamina D , Humanos , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/epidemiologia , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/diagnóstico , Masculino , Feminino , Vitamina D/sangue , Vitamina D/análogos & derivados , Pessoa de Meia-Idade , Estudos de Casos e Controles , Medição de Risco , Idoso , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controle , Parada Cardíaca Extra-Hospitalar/sangue , Parada Cardíaca Extra-Hospitalar/diagnóstico , Parada Cardíaca Extra-Hospitalar/epidemiologia , Parada Cardíaca Extra-Hospitalar/fisiopatologia , Fatores de Risco , Biomarcadores/sangueRESUMO
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.
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Hiperplasia Suprarrenal Congênita , Puberdade Precoce , Virilismo , Síndrome de Williams , Humanos , Feminino , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Puberdade Precoce/diagnóstico , Puberdade Precoce/genética , Puberdade Precoce/etiologia , Síndrome de Williams/complicações , Síndrome de Williams/genética , Síndrome de Williams/diagnóstico , Pré-Escolar , Virilismo/genética , Virilismo/diagnóstico , Esteroide 21-Hidroxilase/genética , MutaçãoRESUMO
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.
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Aprendizado Profundo , Estrabismo , Humanos , Estrabismo/diagnóstico , Estrabismo/classificação , AlgoritmosRESUMO
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.
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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.
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Antibacterianos , Claritromicina , Farmacorresistência Bacteriana , Infecções por Helicobacter , Helicobacter pylori , Humanos , Infecções por Helicobacter/tratamento farmacológico , Infecções por Helicobacter/microbiologia , Claritromicina/uso terapêutico , Claritromicina/farmacologia , Helicobacter pylori/efeitos dos fármacos , Helicobacter pylori/genética , Masculino , Feminino , Antibacterianos/uso terapêutico , Antibacterianos/administração & dosagem , Antibacterianos/efeitos adversos , Antibacterianos/farmacologia , Pessoa de Meia-Idade , Adulto , Estudos Prospectivos , Quimioterapia Combinada , Idoso , Resultado do Tratamento , Rabeprazol/uso terapêutico , Rabeprazol/administração & dosagem , Bismuto/uso terapêutico , Bismuto/administração & dosagem , RNA Ribossômico 23S/genéticaRESUMO
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.
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Procedimentos Cirúrgicos Robóticos , Neoplasias da Glândula Tireoide , Tireoidectomia , Humanos , Tireoidectomia/métodos , Tireoidectomia/efeitos adversos , Feminino , Procedimentos Cirúrgicos Robóticos/métodos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Adulto , Neoplasias da Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/patologia , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Axila , Idoso , Mama/cirurgia , Mama/patologia , Adulto Jovem , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Duração da CirurgiaRESUMO
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.
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COVID-19 , Pandemias , Adulto , Humanos , Admissão do Paciente , COVID-19/epidemiologia , Unidades de Terapia Intensiva , Serviço Hospitalar de Emergência , República da Coreia/epidemiologia , Estudos RetrospectivosRESUMO
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.
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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.
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Repetições de Microssatélites , Paternidade , Feminino , Humanos , Masculino , Análise Mutacional de DNA/métodos , Frequência do Gene , Genética Populacional/métodos , Taxa de Mutação , República da Coreia , População do Leste Asiático/genéticaRESUMO
BACKGROUND: Congenital dyserythropoietic anemia â ¡ (CDA â ¡) is a rare inherited disorder of defective erythropoiesis caused by SEC23B gene mutation. CDA â ¡ 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 â ¡. 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 â ¡ patients, particularly for those with GS coexisting.
Assuntos
Anemia Diseritropoética Congênita , Doença de Gilbert , Proteínas de Transporte Vesicular , Humanos , Anemia Diseritropoética Congênita/genética , Anemia Diseritropoética Congênita/diagnóstico , Masculino , Proteínas de Transporte Vesicular/genética , Doença de Gilbert/genética , Doença de Gilbert/complicações , Doença de Gilbert/diagnóstico , Splicing de RNA , MutaçãoRESUMO
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.