clinical manifestations

临床表现
  • 文章类型: Journal Article
    背景:尿道脱垂(UP),首先由Solinger于1732年描述,是一种罕见的疾病,其特征是远端尿道粘膜通过外鼻道圆形突出,形成出血性,外阴敏感肿块.这种情况最常见于青春期前黑人女性。该病例报告详细介绍了三名年轻女孩UP的临床表现和手术治疗。
    方法:三个女孩,4岁,5岁和6岁,因阴道血斑症状入院。体格检查显示中度出血和红色的充血环,通过尿道口脱垂的水肿组织。诊断程序确认为UP,并进行了手术管理。手术方法包括在全身麻醉下完全切除脱垂组织和粘膜到粘膜吻合。平均11年的术后随访显示无复发或尿道狭窄。
    UP是一种罕见的良性疾病,主要影响女性尿道,有几个假设的病因,包括骨盆底结构薄弱和腹内压升高。典型的表现包括阴道出血和尿道口周围的甜甜圈状肿块。轻度病例可考虑保守治疗,但是对于严重的病例建议手术切除,提供安全有效的低复发率解决方案。
    结论:儿童上升,虽然罕见,在不明原因的阴道出血的情况下应考虑。诊断主要是临床,手术切除提供了明确且具有成本效益的治疗方法。
    BACKGROUND: Urethral Prolapse (UP), first described by Solinger in 1732, is a rare condition characterized by the circular protrusion of the distal urethral mucosa through the external meatus, forming a hemorrhagic, sensitive vulvar mass. This condition is most commonly observed in prepubertal black females. This case report details the clinical manifestations and surgical management of UP in three young girls.
    METHODS: Three girls, aged 4, 5, and 6 years, were admitted with symptoms of vaginal blood spotting. Physical examinations revealed moderate bleeding and a red ring of congested, edematous tissue prolapsing through the urethral meatus. Diagnostic procedures confirmed UP, and surgical management was undertaken. The surgical approach involved the complete excision of the prolapsed tissue and mucosal-to-mucosal anastomosis under general anaesthesia. Postoperative follow-up over a mean period of 11 years showed no recurrence or urethral stricture.
    UNASSIGNED: UP is a rare benign condition primarily affecting the female urethra, with several hypothesized etiologies, including weak pelvic floor structures and increased intraabdominal pressure. The typical presentation includes vaginal bleeding and a doughnut-shaped mass around the urethral meatus. Conservative management may be considered for mild cases, but surgical excision is recommended for severe cases, offering a safe and effective solution with low recurrence rates.
    CONCLUSIONS: UP in children, although rare, should be considered in cases of unexplained vaginal bleeding. Diagnosis is primarily clinical, and surgical resection provides a definitive and cost-effective treatment.
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  • 文章类型: Case Reports
    Cowden综合征(CS)是一种与PTEN基因突变相关的罕见遗传性疾病。它的特点是大头畸形,特定的粘膜皮肤特征,和良性和恶性肿瘤的易感性。主要表现为口腔临床表现的CS病例相对少见。
    我们报告了一例41岁的男性先证者,表现为双侧连合和舌外突出对称病变超过两年。先证者还表现出其他特征,包括大头畸形,沟通困难,和肥胖。在家庭成员中观察到类似的口腔临床表现。全外显子组测序分析显示,先证者和他的弟弟的PTEN基因突变与CS相关。此病例提醒人们注意CS在口腔临床实践中的不同表现,并强调了基因检测对指导诊断和治疗的重要性。
    很少报道以口腔病变为主的CS病例。这一发现有助于进一步了解CS发病机理的某些方面,并增强了对主要表现为口腔临床表现的CS病例的认识。
    UNASSIGNED: Cowden syndrome (CS) is a rare genetic disorder associated with PTEN gene mutations. It is characterized by macrocephaly, specific mucocutaneous features, and a predisposition to benign and malignant tumors. Cases of CS primarily presenting with oral clinical manifestations are relatively uncommon.
    UNASSIGNED: We report the case of a 41-year-old male proband who presented with bilateral commissural and lingual externally projecting symmetric lesions for over two years. The proband also exhibited other features, including macrocephaly, communication difficulties, and obesity. Similar oral clinical manifestations were observed in family members. Whole exome sequencing analysis revealed PTEN gene mutations associated with CS in both the proband and his younger brother. This case serves as a reminder to be aware of the diverse presentations of CS in oral clinical practice and highlights the importance of genetic testing for guiding diagnosis and treatment.
    UNASSIGNED: There are few reported cases of CS primarily presenting with oral lesions. This finding contributes to further understanding of certain aspects of the pathogenesis of CS and enhances awareness of CS cases primarily exhibiting oral clinical manifestations.
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  • 文章类型: Case Reports
    角化病,一种病因不明的角质化疾病,表现出常染色体显性遗传模式或表现为孤立的获得性皮肤病。这种情况可以发生在皮肤上的任何部位;然而,阴囊病变极为罕见。通过对相关文献的全面回顾,仅确认了18例阴囊病变。在这里,我们介绍一例19岁的阴囊孔角化症患者。此外,我们提供了病因的总结,临床表现,和阴囊孔角化病的组织病理学,并通过回顾相关文献提出鉴别诊断。
    Porokeratosis, a keratinizing disorder of unknown etiology, exhibits an autosomal dominant inheritance pattern or manifests as an isolated acquired dermatosis. This condition can occur at any site on the skin; however, scrotal lesions are extremely rare. Only 18 cases of scrotal lesions were identified through a comprehensive review of the relevant literature. Herein, we present a case of a 19-year-old patient with porokeratosis of the scrotum. Additionally, we provide a summary of the etiologies, clinical manifestations, and histopathology of scrotal porokeratosis, and present differential diagnoses by reviewing the related literature.
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  • 文章类型: Case Reports
    本研究旨在分析由垂直传播引起的先天性斑疹伤寒的新生儿的临床过程,并探索早期诊断和治疗策略。回顾性分析新生儿的临床资料并复习相关文献。
    新生儿是足月新生儿,出生时阿普加得分很好。新生儿在生命3小时时出现呼吸暂停,对于可疑的败血症,需要NICU护理和IV抗生素(哌拉西林)。检查显示肝脾肿大。血液检查显示贫血和血小板减少症,胸部X光检查显示斑片状炎症。生命的第二天,他发烧了。生命的第三天,他需要机械通气,因为他出现呼吸困难后病情恶化,低血压,抑郁的感觉,和其他败血症的迹象。重要的是,新生儿的母亲在妊娠31周以上有斑疹伤寒病史。虽然血培养结果仍在等待,对血液和脑脊液进行高通量测序.为了解决疑似斑疹伤寒感染,治疗方案中加入口服阿奇霉素干混悬液.生命第5天的高通量测序结果证实血液中存在大量16SrRNA序列,提示是一种东方型的虫虫感染.新生儿稳定康复,住院16天后出院。新生儿随访9个月,结果良好,生长发育正常。
    本文报道了一例先天性东方痴呆的虫虫感染,垂直传播引起的罕见情况。我们对文献的回顾,结合所提出的案例,使记录的由垂直传播引起的先天性斑疹伤寒病例总数达到8例。遗憾的是,该组中的一名患者在住院的第10天意外死亡,导致死亡率为12.5%(1/8)。这种疾病的特殊传播方式和临床表现将成为医生及时诊断和治疗的警报。由于先天性斑疹伤寒的非特异性临床表现,有限的理解,临床医生的怀疑指数低,缺乏诊断设施,在孕妇中,斑疹伤寒被严重低估,胎儿,和新生儿。
    UNASSIGNED: This study aimed to analyze the clinical course of a newborn with congenital scrub typhus caused by vertical transmission and explore early diagnosis and treatment strategies. The clinical data of the neonate were retrospectively analyzed and the related literature was reviewed.
    UNASSIGNED: The newborn was a full-term one, with a good Apgar score at birth. The neonate had apnea at 3 h of life, requiring NICU care and IV antibiotics (piperacillin) for suspected sepsis. An examination revealed hepatosplenomegaly. Blood tests revealed anemia and thrombocytopenia and a chest x-ray showed patchy inflammation. On the second day of life, he developed a fever. On the third day of life, he required mechanical ventilation because his condition worsened after he presented with dyspnea, hypotension, depressed sensorium, and other signs of sepsis. Importantly, the neonate\'s mother had a history of scrub typhus at 31+ weeks of gestation. While the blood culture result was still pending, high-throughput sequencing of blood and cerebrospinal fluid was performed. To address the suspected scrub typhus infection, oral azithromycin dry suspension was added to the treatment regimen. High-throughput sequencing results on the 5th day of life confirmed a significant presence of 16SrRNA sequences in the blood, suggesting an Orientia tsutsugamushi infection. The neonate steadily recovered and was discharged 16 days after hospitalization. The neonate was followed up for 9 months, and the outcome was favorable with normal growth and development.
    UNASSIGNED: This article reports a case of congenital Orientia tsutsugamushi infection, a rare condition caused by vertical transmission. Our review of the literature, combined with the presented case, brings the total number of documented congenital scrub typhus cases caused by vertical transmission to eight. Regrettably, one patient from this group unexpectedly died on the 10th day of hospitalization, resulting in a mortality rate of 12.5% (1/8). The special transmission mode and clinical manifestations of this disease will serve as an alert to doctors for timely diagnosis and treatment. Because of the non-specific clinical manifestations of congenital scrub typhus, limited understanding, low index of suspicion among clinicians, and a lack of diagnostic facilities, scrub typhus is seriously underdiagnosed in pregnant women, fetuses, and neonates.
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  • 文章类型: Case Reports
    破伤风,由严重的潜在致命细菌引起的,是一种严重影响中枢神经系统的疾病,需要警惕和采取全面的预防措施来维护公众健康。这种情况的发作是突然的,其特征是强烈的强直肌痉挛的出现,强调其批判性。在图尔基耶,每年官方报告约50例;然而,人们普遍怀疑许多案件仍未报告,产生更大的影响。本报告旨在阐明涉及一名24岁男性患者的显着病例。尽管有完整的疫苗接种史,该人感染了破伤风,由于其破伤风感染的严重程度,需要重症监护和机械通气。这起案件令人痛心地提醒人们加强管理的重要性,强调持续和及时加强疫苗接种的重要性。
    Tetanus, caused by a grave and potentially lethal bacteria, is a medical condition that severely affects the central nervous system and demands vigilant attention and comprehensive preventive measures to safeguard public health. The onset of this condition is sudden and characterized by the emergence of intense tonic muscle spasms, underscoring its critical nature. In Türkiye, around 50 cases are officially reported each year; however, it is widely suspected that numerous cases remain unreported, contributing to an even more significant impact. This report aims to shed light on a remarkable case involving a 24-year-old male patient. Despite having a complete vaccination history, this individual contracted tetanus and required intensive care and mechanical ventilation due to the severity of his tetanus infection. This case serves as a poignant reminder of the importance of booster administration, highlighting the significance of continued and timely reinforcement of vaccinations.
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  • 文章类型: Journal Article
    多囊卵巢综合征(PCOS)是育龄妇女中最常见的内分泌疾病,与多种疾病的风险增加有关,其发病机制尚不完全清楚。目的:确定在塞得港市妇产科专科医院门诊门诊就诊的育龄埃及妇女多囊卵巢综合症的危险因素,埃及。研究人群包括248名妇女;124名患有PCOS的妇女和124名非PCOS的妇女。方法:-在妇女中进行病例对照研究。PCOS妇女通过经阴道超声和实验室检查进行临床诊断。数据收集使用;I)结构化访谈问卷,包括社会人口状况,病史和家族史,月经和产科史和生活习惯,和临床检查;II)人体测量参数;III)感知压力量表。病例平均年龄为26.18±0.45岁。PCOS最常见的危险因素是城市居住,高等教育,工作,收入不足,贫血史,高血压,癌症,以及PCOS和不孕症的家族史,增加体重指数,快餐,和喝咖啡。该研究得出结论,埃及妇女多囊卵巢疾病的重要危险因素包括社会人口学特征,病史和家族史,增加体重指数,和生活习惯。这项研究建议多囊卵巢综合征女性遵循健康的饮食和定期锻炼。
    Polycystic Ovary Syndrome (PCOS) is the most common endocrine disorder among women of reproductive age, associated with an increased risk of multiple diseases, and its pathogenesis is not fully understood. Purpose: identify risk factors for Polycystic Ovary Syndrome in reproductive-aged Egyptian women attending an outpatient gynecological clinic at a specialized hospital of Obstetrics and Gynecology in Port Said City, Egypt. The study population included 248 women; 124 women suffered from PCOS and 124 Non-PCOS. Methods: - Case-control study was conducted among women. PCOS women were diagnosed clinically by transvaginal ultrasound and laboratory investigations. Data were collected using; I) a structured interview questionnaire, including socio-demographic status, medical and family history, menstrual and obstetrical history and lifestyle habits, and clinical examination; II) anthropometric parameters; III) perceived stress scale. The mean age of cases was 26.18±0.45 years. The most common risk factors for PCOS were urban residence, high education, working, insufficient income, history of anemia, hypertension, cancer, and family history of PCOS and infertility, increasing body mass index, fast food, and drinking of coffee. The study concluded that the significant risk factors for polycystic ovarian disease in Egypt women included socio-demographic characteristics, medical and family history, increasing body mass index, and lifestyle habits. This study recommended that Polycystic Ovary Syndrome women follow a healthy diet and exercise regularly.
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  • 文章类型: Case Reports
    结节性硬化症(TSC)是一种常染色体显性疾病,具有不同的初始症状和复杂的临床表现。一名14岁女性患者表现为持续发烧和严重头痛。医学影像学检查显示颅内多发异常病变。该患者此前曾在多家医院就诊后被误诊为“脑炎和急性播散性脑脊髓炎”。最终,通过对病例特点和基因检测结果的梳理,患者被诊断为TSC并伴有肺炎支原体感染.本病例报告及文献复习旨在提高对TSC临床诊断和治疗的认识,避免误诊,漏诊,和过度治疗。
    Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with different initial symptoms and complex clinical manifestations. A 14-year-old female patient presented with persistent fever and severe headache. Medical imaging examinations revealed multiple abnormal intracranial lesions. The patient had previously been misdiagnosed with \"encephalitis and acute disseminated encephalomyelitis\" after visiting numerous hospitals. Eventually, by combing the characteristics of the case and genetic testing results, the patient was diagnosed with TSC accompanied by Mycoplasma pneumoniae infection. The purpose of this case report and literature review is to improve understanding of the clinical diagnosis and treatment of TSC so as to avoid misdiagnosis, missed diagnosis, and overtreatment.
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  • 文章类型: Case Reports
    X连锁视网膜劈裂在男性儿童中更常见,在女性中很少见。临床上,男性患者主要表现为早发性视力障碍或视力丧失,和视网膜内视网膜分裂。我们报告了由具有复杂杂合突变的CRB1基因引起的家族性视网膜中央凹(FFR)女性患者的长期观察。在这项研究中报告的女性患者的初始症状与涉及黄斑中心凹的RS1突变引起的X连锁视网膜裂(XLRS)的一些早期表现非常相似。然而,随着时间的推移,FFR视网膜中央凹裂开高度逐渐降低,FFR在视网膜中央凹的裂开程度逐渐降低。
    X-linked retinoschisis is more common in male children and rare in females. Clinically, male patients mainly present with early onset visual impairment or vision loss, and retinal retinoschisis due to division of the inner retina. We report a long-term observation of a female patient with familial foveal retinoschisis (FFR) caused by CRB1 gene with complex heterozygotic mutation. The initial symptoms of the female patient reported in this study were very similar to some early manifestations of X-linked retinoschisis (XLRS) caused by RS1 mutations involving macular fovea. However, as time going on, the splitting height at retinal fovea of FFR gradually decreased, and the splitting extent at retinal fovea of FFR gradually decreased.
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  • 文章类型: Journal Article
    2019年冠状病毒病爆发(COVID-19),它起源于严重的急性呼吸道综合症-冠状病毒-2(SARS-COV-2)感染,已成为国际突发公共卫生事件。这项研究的目的是评估感染COVID-19的高血压和非高血压患者的临床症状和身体状况。
    对280名连续未选择的患者进行了一项回顾性观察性病例对照研究,通过实验室确认的测试诊断为COVID-19。这是一项单中心研究。人口统计,实验室,和临床发现数据从医院登记数据库中提取.
    在我们的280名患者中,有149名男性(53%)和138名(50%)年龄超过60岁(平均=67.75),还有50例住院死亡(死亡率,17%)。共有19人(6.9%)服用阿片类药物,和吸烟。发热率无显著差异,咳嗽,痰液生产,胃肠道症状,肌痛,高血压和非高血压组的头痛。老年患者基础疾病患病率明显高于年轻患者(P=0<0.05),COVID-19在高血压患者中的死亡率高于非高血压患者(P=0<0.05)。
    高血压与COVID-19患者的不良预后和较高的死亡率相关。在COVID-19的管理过程中,优化血压至关重要。我们的研究暗示了对患有高血压和其他合并症的老年患者进行早期护理和教育的重要性。
    The outbreak of coronavirus disease 2019 (COVID-19), which was originated from a severe acute respiratory syndrome-coronavirus-2 (SARS-COV-2) infection, has become an international public health emergency. The aim of this study was to assess the clinical symptoms and physical findings in both hypertensive and nonhypertensive patients infected with COVID-19.
    UNASSIGNED: A retrospective observational case-control study with diagnosis of COVID-19 by laboratory-confirmed test was conducted on 280 consecutive unselected patients. This was a single-center study. The demographics, laboratory, and clinical findings data were extracted from the hospital registry database.
    UNASSIGNED: Of our 280 patients in the study, there were 149 men (53%) and 138 (50%) were older than 60 years (mean=67.75), and also 50 in-hospital deaths occurred (mortality rate, 17%). Total 19(6.9%) were taking opioid, and smoking. There were no significant differences in the rate of fever, cough, sputum production, gastrointestinal symptoms, myalgia, and headache in the both hypertensive and nonhypertensive groups. The prevalence of underlying diseases was significantly higher in older patients in comparison with younger ones (P=0<0.05), COVID-19 mortality was noticed to be higher among hypertensive patients as compared with nonhypertensive patients (P=0<0.05).
    UNASSIGNED: Hypertension is associated with a poor prognosis and higher mortality among COVID-19 patients. Optimizing blood pressure is essential during the management of COVID-19. Our research implies the importance of early care and education of old patient with hypertension and other comorbidities.
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  • 文章类型: Case Reports
    布劳综合征(Blausyndrome,BS)是一种罕见的遗传性免疫性疾病,常见于儿童时期。目前,BS诊断漏诊率很高,并且尚未建立有效的BS临床管理。该病例报告描述了一名54岁的男性中国患者,表现为手部畸形,发烧,皮疹和关节痛。根据典型的病史和遗传分析,最终证实了他的诊断。此病例报告将进一步帮助临床医生了解这种罕见的临床实体,以进行正确的诊断和适当的治疗。
    Blau syndrome (BS) is a rare genetic immune disease which commonly presents in childhood. Currently, the miss-rate of BS diagnosis is very high, and an effective clinical management of BS has not been well established. This case report depicts a 54-year-old male Chinese patient presenting with hand malformation, fever, skin rash and joint pain. His diagnosis was ultimately confirmed according to typical medical history and genetic analysis. This case report will further help clinicians to be aware of this rare clinical entity for correct diagnosis and proper treatment.
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