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Dural arteriovenous fistula associated with medullary ependymoma: an unusual association. 硬脑膜动静脉瘘伴髓质上皮瘤:一种不寻常的关联。
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-22 eCollection Date: 2024-01-01 DOI: 10.31744/einstein_journal/2024AI0998
Benedito Jamilson Araújo Pereira
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引用次数: 0
Irreversible electroporation for prostate cancer: another promising focal therapy. 治疗前列腺癌的不可逆电穿孔疗法:另一种前景广阔的病灶疗法。
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-22 eCollection Date: 2024-01-01 DOI: 10.31744/einstein_journal/2024RC0779
Bruno Pagnin Schmid, Guilherme Cayres Mariotti, Guilherme Marcelino de Miranda, Rodrigo Gobbo Garcia, Oskar Kaufmann

Radical treatment for prostate cancer is associated with significant morbidity. Percutaneous image-guided irreversible electroporation is a non-thermal ablative technique that has emerged as a valuable option. This study describes the case of a patient with prostate cancer who was successfully treated using irreversible electroporation. We report the case of a 72-year-old male patient who presented with elevated PSA (4.0ng/mL) during routine testing. Multiparametric magnetic resonance imaging of the prostate revealed a 0.8 cm lesion in the posterolateral aspect of the right midgland with marked hypointensity on ADC (ACR PI-RADS 4). The transperineal prostate revealed acinar adenocarcinoma (Gleason Score 3+3=6; International Society of Urological Pathology=1). Serum PSA levels reduced to 1.04ng/mL 32 days after the procedure and remained within normal limits (1.26ng/mL) after 349 days. Follow-up imaging performed 90 days later with prostate-specific membrane antigen PET/MRI showed size reduction, retraction, and diffuse hypointensity in the peripheral zone of the right prostate lobe, with no increase in prostate-specific membrane antigen uptake. Magnetic resonance imaging found no suspicious lesions 367 days after irreversible electroporation. At the final clinical follow-up at 390 days, the patient was asymptomatic. Our findings illustrate the potential of irreversible electroporation as a possible alternative treatment for prostate cancer.

前列腺癌的根治性治疗与严重的发病率有关。经皮图像引导的不可逆电穿孔是一种非热消融技术,已成为一种有价值的选择。本研究描述了一例使用不可逆电穿孔技术成功治疗前列腺癌的病例。我们报告了一名 72 岁男性患者的病例,他在常规检查中出现 PSA 升高(4.0ng/mL)。前列腺多参数磁共振成像显示,右侧中段后外侧有一个 0.8 厘米的病灶,ADC 明显低密度(ACR PI-RADS 4)。经会阴前列腺显示为针状腺癌(格里森评分 3+3=6;国际泌尿病理学会=1)。术后 32 天,血清 PSA 水平降至 1.04ng/mL,349 天后仍在正常范围内(1.26ng/mL)。90天后进行的前列腺特异性膜抗原PET/MRI随访成像显示,右侧前列腺叶的外周区体积缩小、回缩和弥漫性低密度,前列腺特异性膜抗原摄取量没有增加。不可逆电穿孔术后 367 天,磁共振成像未发现可疑病灶。在 390 天的最后临床随访中,患者没有任何症状。我们的研究结果表明,不可逆电穿孔疗法有可能成为治疗前列腺癌的一种替代疗法。
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引用次数: 0
Investigation of an MCM8 gene variant in women with premature ovarian insufficiency. 卵巢早衰妇女的 MCM8 基因变异研究
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-22 eCollection Date: 2024-01-01 DOI: 10.31744/einstein_journal/2024AO0712
Beatriz Xavier de Camargo Rabello, Laura Alves da Rocha, Caio Parente Barbosa, Bianca Bianco, Denise Maria Christofolini

Introduction: The MCM8 gene is involved in the homologous recombination and repair of double-stranded DNA breaks. It maintains the meiotic process continuously. If the MCM8-9 helicase does not function, the accumulation of DNA breaks can result in cell death. Studies have reported MCM8 gene suppression with primary ovarian insufficiency. In the present study, a variant of the MCM8 gene was investigated in women with primary ovarian insufficiency to elucidate the role of MCM8 in this pathology.

Objective: To evaluate the frequency of the NG_042869.1:g.40270G>A variant of the MCM8 gene in the study population.

Methods: The MCM8 gene variant was analyzed via real-time polymerase chain reaction using a hydrolysis probe in DNA samples from women diagnosed with primary ovarian insufficiency, with a normal karyotype and without FMR1 gene permutation, and from a Control Group, who had menopause after 50 years of age. Frequencies were compared using Fisher's exact test.

Results: A total of 100 samples from the Case Group and 100 samples from the Control Group were selected. The variant was detected in heterozygosity in a Case Group sample but was not identified in the Control Group.

Discussion: This variant was first described in a consanguineous Arab family. This variant is classified as pathogenic and has a prevalence of 1% in women with primary ovarian insufficiency. This study is a pioneering investigation of this variant in Brazilian women.

Conclusion: These findings suggest that the rs138761187 variant of the MCM8 gene is rare in Brazilian women.

简介MCM8 基因参与同源重组和双链 DNA 断裂的修复。它能持续维持减数分裂过程。如果 MCM8-9 螺旋酶失效,DNA 断裂的积累会导致细胞死亡。有研究报告称,MCM8 基因抑制与原发性卵巢功能不全有关。本研究调查了原发性卵巢功能不全妇女的 MCM8 基因变异,以阐明 MCM8 在该病理中的作用:评估研究人群中 MCM8 基因 NG_042869.1:g.40270G>A 变异的频率:方法:使用水解探针,通过实时聚合酶链反应分析被诊断为原发性卵巢功能不全、核型正常且无 FMR1 基因变异的女性和 50 岁后绝经的对照组女性的 DNA 样本中的 MCM8 基因变异。采用费雪精确检验对频率进行比较:结果:共从病例组和对照组各抽取了 100 个样本。在病例组样本中检测到该变异的杂合性,但在对照组中未发现该变异:讨论:该变异体首次出现在一个阿拉伯近亲家庭中。讨论:该变异首次在阿拉伯近亲家庭中被描述,被归类为致病性变异,在原发性卵巢功能不全妇女中的发病率为 1%。本研究是在巴西妇女中对该变异体进行的首次调查:这些研究结果表明,MCM8 基因 rs138761187 变体在巴西女性中较为罕见。
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引用次数: 0
Face mask use and viral load in patients with mild symptoms of COVID-19. COVID-19 轻度症状患者口罩的使用和病毒载量。
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-22 eCollection Date: 2024-01-01 DOI: 10.31744/einstein_journal/2024AO0495
Murilo Soares Costa, Claudia Regina Lindgren Alves, Flávio Guimarães da Fonseca, Hugo Itaru Sato, Raissa Prado Rocha, Alex Fiorini de Carvalho, Karine Lima Lourenço, Nathalia Sernizon Guimarães, Elaine Leandro Machado, Santuza Maria Ribeiro Teixeira, Unaí Tupinambás, Ricardo Hiroshi Caldeira Takahashi

Objective: Previous studies indicated that face masks reduce the probability of infection by SARS-CoV-2 but did not examine the relationship between SARS-CoV-2 viral load and mask usage. This study analyzed this relationship.

Methods: This cross-sectional study evaluated patients admitted to a public Emergency Care Unit in Belo Horizonte, MG, Brazil, between October 2020 and March 2021. Convenience samples were recruited during the study period. Adult patients with COVID-19 symptoms were invited to participate after being examined by a physician according to the Emergency Care Unit routine. This study included 441 adults with mild symptoms diagnosed with COVID-19 via RT-PCR, who were tested until the 14th day after symptom onset. Participants were interviewed about mask usage, oropharyngeal swabs were collected, and the SARS-CoV-2 viral load was measured using RT-PCR. The difference between the SARS-CoV-2 viral load in the groups of individuals who regularly used and did not use masks was subjected to a hypothesis test.

Results: Of the patients who had swabs collected 1-5 days after symptom onset, 64.9% of those not using masks regularly and 45.5% of those using masks regularly presented a high SARS-CoV-2 viral load. This difference was statistically significant (p=0.0073). Considering only the patients who had swabs collected 4-8 days after symptom onset, 44.1% of those not using masks regularly and 30.8% of those using masks regularly presented a high SARS-CoV-2 viral load; this difference was statistically significant (p=0.0364).

Conclusion: When people who regularly wear a face mask contract COVID-19, they have a significantly lower probability of having a high viral load of SARS-CoV-2 compared to those who do not regularly wear masks.

研究目的以前的研究表明,口罩能降低感染 SARS-CoV-2 的概率,但没有研究 SARS-CoV-2 病毒载量与口罩使用之间的关系。本研究分析了这种关系:这项横断面研究评估了 2020 年 10 月至 2021 年 3 月期间在巴西 MG 州贝洛奥里藏特市公立急诊科住院的患者。研究期间招募了方便样本。有 COVID-19 症状的成人患者在接受医生按照急诊科常规进行的检查后被邀请参与研究。本研究包括 441 名通过 RT-PCR 诊断为 COVID-19 的轻微症状成人,他们在症状出现后第 14 天前接受了检测。参与者接受了有关口罩使用情况的访谈,采集了口咽拭子,并使用 RT-PCR 测定了 SARS-CoV-2 病毒载量。对经常使用和不使用口罩人群的 SARS-CoV-2 病毒载量差异进行了假设检验:结果:在症状出现 1-5 天后采集咽拭子的患者中,64.9% 的不经常使用口罩者和 45.5%的经常使用口罩者的 SARS-CoV-2 病毒载量较高。这一差异具有统计学意义(P=0.0073)。如果只考虑在症状出现后 4-8 天采集拭子的患者,则 44.1%不经常戴口罩的患者和 30.8%经常戴口罩的患者的 SARS-CoV-2 病毒载量较高;这一差异具有统计学意义(p=0.0364):结论:与不经常戴口罩的人相比,经常戴口罩的人感染 COVID-19 的几率明显降低。
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引用次数: 0
Temporal trends of the use of dexamethasone for the treatment of bronchopulmonary dysplasia in very low-birth-weight preterm infants: a single-center evaluation. 使用地塞米松治疗超低出生体重早产儿支气管肺发育不良的时间趋势:单中心评估。
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-22 eCollection Date: 2024-01-01 DOI: 10.31744/einstein_journal/2024AO0849
Mei Li Ng Teixeira, Sérgio Tadeu Martins Marba, Jamil Pedro de Siqueira Caldas

Objective: To evaluate temporal trends in the use of dexamethasone for the treatment of bronchopulmonary dysplasia in very-low-birth-weight preterm infants.

Methods: A cohort study was conducted using an electronic database and medical records of all very low-birth-weight preterm infants admitted to a university tertiary neonatal unit between 2006 to 2022. The main outcome was the use of systemic dexamethasone to treat bronchopulmonary dysplasia, regardless of the dose or duration of treatment. Annual rates were evaluated using the Cochran-Armitage test.

Results: A total of 1,691 very-low-birthweight preterm infants were admitted during the study period, with a median birth weight of 1100 g (interquartile range [IQR] 850-1300g) and a median gestational age of 29 weeks (IQR= 27-31g). Infants exposed to dexamethasone were smaller (birth weight: 765 versus 1134g, p<0.001) and more immature (gestational age: 28 versus 31 weeks, p<0.001). The overall rate of dexamethasone use was 9.6% (annual variation 6.7% to 13.9%) and remained stable over the study period (p=0.287), including in infants aged <32 weeks (12.0%; p=0.203) and <28 weeks (24.6%; p=0.851). Mechanical ventilation and mortality rates remained stable at 58.8% (p=0.435) and 14.5% (p=0.078), respectively. However, the birth rate at <28 weeks of gestation increased (28.8%, annual variation of 16.0% to 43.8%, p<0.001).

Conclusion: Approximately one in 10 preterm very low-birth-weight infants and one in four of those <28 weeks received dexamethasone, with a trend towards stable use over time, despite a significant trend towards an increase in extreme preterm newborn infants.

目的:评估使用地塞米松治疗超低体重早产儿支气管肺发育不良的时间趋势:评估使用地塞米松治疗极低出生体重早产儿支气管肺发育不良的时间趋势:一项队列研究利用电子数据库和病历对 2006 年至 2022 年间大学三级新生儿科收治的所有极低出生体重早产儿进行了分析。研究的主要结果是使用全身性地塞米松治疗支气管肺发育不良,而不考虑治疗剂量或持续时间。使用 Cochran-Armitage 检验法对年发病率进行评估:研究期间共收治了1691名极低出生体重早产儿,出生体重中位数为1100克(四分位距[IQR] 850-1300克),胎龄中位数为29周(IQR= 27-31克)。使用地塞米松的婴儿体重较轻(出生体重:765 克对 1134 克,p):大约每 10 个早产超低出生体重儿中就有 1 个,其中每 4 个中就有 1 个。
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引用次数: 0
Robotic thoracic surgery in Brazil. 巴西的机器人胸腔镜手术。
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-15 DOI: 10.31744/einstein_journal/2024EDS1
Ricardo Mingarini Terra
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引用次数: 0
Artificial intelligence in the intensive care unit. 重症监护室中的人工智能。
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-15 DOI: 10.31744/einstein_journal/2024EDS2
Thais Dias Midega, Renato Carneiro de Freitas Chaves, Ricardo Kenji Nawa, Bruno Franco Mazza, Leonardo José Rolim Ferraz, Thiago Domingos Corrêa
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引用次数: 0
Multidisciplinary approach in head and neck cancer. 头颈部癌症的多学科治疗方法。
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-15 DOI: 10.31744/einstein_journal/2024EDS3
Claudio R Cernea, Ana Kober Leite, Bruno Figueiredo Muller, Leandro Luongo de Matos
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引用次数: 0
Hand reanimation: functional free gracilis transfer or transfer of the distal tendon of the biceps to the flexor digitorum profundus and flexor pollicis longus as surgical options. 手部复位:功能性游离腓肠肌转移或将肱二头肌远端肌腱转移至屈指肌和屈股肌作为手术选择。
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-08 eCollection Date: 2024-01-01 DOI: 10.31744/einstein_journal/2024AO0719
Raquel Bernardelli Iamaguchi, Maria Virginia Arranz, Rames Mattar Junior

Objective: Hand reanimation for finger flexion in patients with total paralysis remains a reconstructive challenge, especially when tendon transfers or neurological reconstruction options are no longer viable. This study aimed to describe a series of patients without hand function by evaluating two hand reanimation techniques.

Methods: This observational retrospective study used a case series of hand reanimation. Two techniques were performed-functional free gracilis muscle transfer with microsurgical reconstruction, and transfer of the recovered biceps to the flexor digitorum profundus and flexor pollicis longus with tendon graft augmentation. The two groups, each undergoing one of the techniques, were evaluated for the final functional results using the British Medical Research Council (BMRC) grading system.

Results: Six consecutive patients with total hand paralysis were included, with a mean final follow-up of 7.5 years. After intervention, two patients, one from each technique group, achieved a BMRC grade 2. In the group where tendon transfer of the biceps to the finger flexors was performed, two patients achieved a BMRC grade 3. Additionally, two patients who underwent functional free muscle transfer were achieved a BMRC grade 4.

Conclusion: The transfer of biceps to the finger flexors using tendon grafts, which involves fewer technical difficulties and reduced demands from the surgical team compared to functional free muscle transfer, is a viable alternative for treating patients requiring hand reanimation. However, functional free muscle transfer is recommended as the first option when technically feasible and adequate donor nerves are available, due to its potential for achieving greater final muscular strength in the finger flexors. Reconstructive microsurgeons can use both techniques as viable surgical options for hand reanimation.

目的:全瘫患者手指屈曲的手部复位仍然是一项重建挑战,尤其是在肌腱转移或神经重建方案不再可行的情况下。本研究旨在通过评估两种手部复位技术,描述一系列无手部功能患者的情况:这项观察性回顾研究采用了一系列手部再植病例。研究采用了两种技术--功能性游离腓肠肌转移和显微外科重建,以及将恢复后的肱二头肌转移到屈指肌和屈股肌并进行肌腱移植增强。采用英国医学研究委员会(BMRC)的分级系统对两组患者分别采用其中一种技术的最终功能效果进行评估:结果:连续纳入了六名手部完全瘫痪的患者,平均随访时间为 7.5 年。干预后,两组各有一名患者达到了 BMRC 2 级。在将肱二头肌肌腱转移到指屈肌的组别中,有两名患者的 BMRC 达到了 3 级。此外,两名接受功能性游离肌肉转移的患者达到了 BMRC 4 级:结论:与功能性游离肌肉转移相比,使用肌腱移植将肱二头肌转移至指屈肌涉及的技术难度更低,对手术团队的要求也更低,是治疗需要手部复位的患者的可行替代方案。不过,在技术可行且有足够供体神经的情况下,建议将功能性游离肌肉移植作为首选,因为它有可能使手指屈肌最终获得更大的肌肉力量。整形显微外科医生可以将这两种技术作为手部复位的可行手术方案。
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引用次数: 0
The importance of the debate on occupational risk factors of COVID-19 for dental professionals. 关于 COVID-19 职业风险因素的讨论对牙科专业人员的重要性。
IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-11-08 eCollection Date: 2024-01-01 DOI: 10.31744/einstein_journal/2024CE1217
Érika Mageste de Almeida Candido, Carlos Magno da Costa Maranduba, Melissa Mariana Gómez Vaca, Marcos Henrique de Castro E Souza, Warley Oliveira Silva, Antônio Márcio Resende do Carmo
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引用次数: 0
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