RESUMO
When medical genetic syndromes are influenced by allelic hierarchies, mutant alleles have distinct effects on clinical phenotypes. Genotype-phenotype correlations for Usher syndrome type 2 (USH2) suggest that the USH2A gene exhibits an allelic hierarchy. Here, we analyzed the phenotypes and genotypes of 16 South Korean patients with USH2A biallelic variants to investigate an allelic hierarchy from audiological and ophthalmological perspectives. Using whole exome and genome sequencing, 18 mutant alleles, including 4 novel alleles, were identified and implicated in USH2A-related disorders. Truncated alleles were linked to earlier onset of subjective hearing loss and more severe thresholds; biallelic truncated alleles had more severe effects. Truncated alleles were also associated with retinal structure degeneration and severe functional deterioration. However, younger patients (aged < 16 years) did not exhibit overt retinitis pigmentosa even when they had biallelic truncated alleles, suggesting that USH2A-related USH2 can mimic nonsyndromic hearing loss. For truncated alleles, there was a clear correlation between mean hearing threshold and 30-Hz flicker electroretinography implicit time. This study provides the first evidence of an USH2A-related allelic hierarchy among South Korean patients; our data yield valuable insights concerning the natural courses of clinical phenotypes and how genotype-based therapies may be used.
Assuntos
Síndromes de Usher , Humanos , Síndromes de Usher/genética , Alelos , Fenótipo , República da Coreia , Proteínas da Matriz Extracelular/genética , MutaçãoRESUMO
BACKGROUND: Academic performance is an important issue for Korean students. Various psychological factors contribute to academic performance. We aimed to evaluate the psychological factors that affect academic performance integratively. METHODS: A total of 102 academic high achievers and 120 comparison participants were recruited. We evaluated psychological factors (test anxiety, perfectionism, personality traits, resilience, and self-efficacy) and measured academic performance using the College Scholastic Ability Test and the current college grade. We compared psychological factors and academic performance between the academic high achiever and comparison groups. Multiple linear regression was then conducted to identify the significant psychological factors for high academic performance. Further, we used cluster analysis to classify the comparison group by the significant psychological factors and compared them among clusters and academic high achievers to determine the psychological characteristics of academic high achievers. RESULTS: The academic high achiever group showed lower test anxiety (p = .002), less neuroticism (p = .001), higher self-efficacy (p = .028), and less socially prescribed perfectionism (p < .001) than the comparison group. Multiple linear regression results (p = .020) clarified that neuroticism (p = .020), test anxiety level (p = .047), and perfectionism (p = .035) were important factors predicting better academic performance. Academic high achievers had moderate test anxiety and perfectionism levels, with the best performance on the College Scholastic Ability Test. CONCLUSIONS: Neuroticism, test anxiety levels, and perfectionism are important psychological factors for high academic performance. Interventions targeting these factors may help to improve academic accomplishments.
Assuntos
Perfeccionismo , Humanos , Neuroticismo , Personalidade , Estudos Transversais , Ansiedade aos ExamesRESUMO
Chemotherapies are used for treating retinoblastoma; however, numerous patients suffer from recurrence or symptoms due to chemotherapy, which emphasizes the need for alternative therapeutic strategies. The present study demonstrated that protein arginine deiminase â ¡ (PADI2) was highly expressed in human and mouse retinoblastoma tissues due to the overexpression of E2 factor (E2F). By inhibiting PADI2 activity, the expression of phosphorylated AKT was reduced, and cleaved poly (ADPribose) polymerase level was increased, leading to induced apoptosis. Similar results were obtained in orthotopic mouse models with reduced tumor volumes. In addition, BBClamidine showed low toxicity in vivo. These results suggested that PADI2 inhibition has potential clinical translation. Furthermore, the present study highlights the potential of epigenetic approaches to target RB1deficient mutations at the molecular level. The current findings provide new insights into the importance of retinoblastoma intervention by managing PADI2 activity according to the treatment of specific inhibitors and depletion approaches in vitro and in orthotopic mouse models.
Assuntos
Neoplasias da Retina , Retinoblastoma , Humanos , Camundongos , Animais , Desiminases de Arginina em Proteínas/genética , Desiminases de Arginina em Proteínas/metabolismo , Retinoblastoma/tratamento farmacológico , Retinoblastoma/genética , Retinoblastoma/patologia , Modelos Animais de Doenças , Mutação , Neoplasias da Retina/tratamento farmacológico , Neoplasias da Retina/genéticaRESUMO
As surgical procedures continue to be more complex, the need for more effective training in anatomy has increased. The study of anatomy plays a significant role in the understanding of the human body as well as in basic and advanced clinical training. Among the different cadaver models, fresh frozen cadavers (FFCs) are known for their realistic tissue quality. The purpose of this article was to review and summarize the preparation procedures for and reported cases involving FFCs. PubMed, Scopus, Medline, and Web of Science were searched for relevant studies. The preparation procedures were divided into five steps: washing, irrigation, freezing, defrosting, and arterial infusion. Not all steps were reported to be mandatory, but omitting one or more could result in a loss of quality. FFCs were reported to be used for various purposes: undergraduate education, general surgery training, vascular surgery training, minimal access surgery (laparoscopic surgery) training, and microsurgery training. In all categories, expert opinions and statistical analyses indicated successful outcomes. The reasons for high satisfaction with FFCs included realistic texture, capability of reenacting actual operations, and accuracy of anatomical locations. The results also revealed the importance and advantages of the dissection courses in surgical training. Since the direct comparison between cadaver models is insufficient, future studies regarding this topic are deemed necessary. In addition, it would be advantageous to develop methods to improve FFC quality, or ideas to optimize this model for certain purposes.
Assuntos
Anatomia , Anatomia/educação , Cadáver , Competência Clínica , Dissecação , Escolaridade , HumanosRESUMO
BACKGROUND AND OBJECTIVES: During minimally invasive surgery (MIS), it is impossible to directly detect marked clips around tumors via palpation. Therefore, we developed a novel method and device using Radio Frequency IDentification (RFID) technology to detect the position of clips during minimally invasive gastrectomy or colectomy. METHODS: The feasibility of the RFID-based detection system was evaluated in an animal experiment consisting of seven swine. The primary outcome was to successfully detect the location of RFID clips in the stomach and colon. The secondary outcome measures were to detect time (time during the intracorporeal detection of the RFID clip), and accuracy (distance between the RFID clip and the detected site). RESULTS: A total of 25 detection attempts (14 in the stomach and 11 in the colon) using the RFID antenna had a 100% success rate. The median detection time was 32.5 s (range, 15-119 s) for the stomach and 28.0 s (range, 8-87 s) for the colon. The median detection distance was 6.5 mm (range, 4-18 mm) for the stomach and 6.0 mm (range, 3-13 mm) for the colon. CONCLUSIONS: We demonstrated favorable results for a RFID system that detects the position of gastric and colon tumors in real-time during MIS.
Assuntos
Neoplasias do Colo/cirurgia , Modelos Animais de Doenças , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Dispositivo de Identificação por Radiofrequência/métodos , Neoplasias Gástricas/cirurgia , Algoritmos , Animais , Sistemas Computacionais , Estudos de Viabilidade , Procedimentos Cirúrgicos Minimamente Invasivos/instrumentação , Suínos , Resultado do TratamentoRESUMO
We report a rare synchronous presentation of primary lung cancer and adrenal pheochromocytoma. A 59-year-old woman was diagnosed with right upper lobe non-small cell lung carcinoma measuring 2.8 cm and a right adrenal gland mass measuring 3.5 cm, which displayed increased metabolic activity on (18)F-fluorodeoxyglucose positron emission tomography-computed tomography. The adrenal lesion was revealed to be asymptomatic. The patient underwent right adrenalectomy and histological examination revealed a pheochromocytoma. Ten days later, right upper lobectomy was performed for lung cancer. This case indicates that incidental adrenal lesions found in cases of resectable primary lung cancer should be investigated.
RESUMO
Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.
Assuntos
Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/diagnóstico , Dor Abdominal/etiologia , Adulto , Proteínas do Citoesqueleto/metabolismo , Análise Mutacional de DNA , Febre Familiar do Mediterrâneo/genética , Febre/etiologia , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Pirina , República da Coreia , Tomografia Computadorizada por Raios X , Vômito/etiologiaRESUMO
Polyarteritis nodosa (PAN) is characterized by inflammatory necrosis of medium sized arteries. PAN can also be associated with stenosis or aneurysm of the coronary artery. However, the involvement of PAN at a coronary artery is usually asymptomatic, which makes it difficult to diagnose. In addition, all of the three main coronary arteries involved with chronic total occlusion (CTO) is a rare finding in patients with PAN. We report a patient that presented with PAN complicated by CTO and aneurysms of three main coronary arteries, without typical symptoms of angina.