rare condition

罕见的情况
  • 文章类型: Journal Article
    成釉细胞发育不全(AI)是一种罕见的遗传性疾病,影响儿童和成人。有关AI的知识仅限于临床表现和影像学发现。为患有AI的儿童提供各种治疗,然而,文献中尚未提出明确的治疗指南.本范围审查强调了AI的病因和分类的知识,并在全面审查中综合了这些发现,主要关注儿童中各种形式的人工智能,并采用恢复性保守的方法进行管理。五个电子数据库,即,PubMed,谷歌学者,Embase,WebofScience,还有Scopus,搜索了相关文章。搜索分两个阶段进行:首先是标题和摘要,其次是全文文章。本范围审查中包含的研究发表于2013年至2023年8月。在定制的工作表上进行数据提取。本综述共纳入33项研究,其中19份是报告和系列,七个是观察性的,七个是评论。本综述中包括的大多数患者患有发育不良型AI(54%),其次是低血(36%),钙化不足(10%)。解释的治疗方式分为以下三个阶段:临时,瞬态,和永久的。几乎所有报告都提出了在幼儿中治疗人工智能的指南要求。这项范围审查表明,有必要制定儿童AI治疗指南。此外,儿科牙医应优先考虑儿童AI的早期诊断和治疗以及长期随访,以有效提高患者的心理健康和整体生活质量。
    Amelogenesis imperfecta (AI) is a rare genetic disorder affecting children and adults. Knowledge about AI is limited to clinical representation and radiographical findings. Various treatments are provided to children with AI, yet no definitive treatment guideline has been suggested in the literature. This scoping review highlights the knowledge of the etiology and classification of AI and synthesizes these findings in a comprehensive review, focusing mainly on the various forms of AI in children and management with a restorative conservative approach. Five electronic databases, namely, PubMed, Google Scholar, Embase, Web of Science, and Scopus, were searched for the relevant articles. The search was performed in two phases: first for title and abstract, and second for full-text articles. The studies included in this scoping review were published from 2013 to August 2023. The data extraction was done on a customized sheet. A total of 33 studies were included in this review, of which 19 were reports and series, seven were observational, and seven were reviews. Most patients included in this review suffered from the hypoplastic type of AI (54%), followed by hypomatured (36%), and hypocalcified (10%). The treatment modalities explained were divided into the following three phases: temporary, transient, and permanent. Almost all included reports suggested the requirement for guidelines for treating AI among young children. This scoping review suggests the need for guidelines for treating AI in children. Moreover, pediatric dentists should prioritize early diagnosis and treatment and long-term follow-up for AI in children to effectively enhance the patient\'s psychological well-being and overall quality of life.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    单侧双胎异位妊娠在自然妊娠中极为罕见,发病率仅为200,000-250,000人中有1人,对育龄妇女构成重大健康风险,甚至会导致危及生命的并发症.缺乏体外受精-胚胎移植(IVF-ET)周期后这种罕见疾病患病率的数据。
    我们介绍了一例51岁女性,在冷冻胚胎移植后进行双侧输卵管切除术后,出现罕见的单侧双胎异位妊娠,其次是文献综述。
    双胎异位妊娠是一种非常罕见的妊娠类型,需要高度怀疑才能及早诊断和治疗,以防止并发症和孕产妇死亡。
    UNASSIGNED: Unilateral twin ectopic pregnancy is extremely rare in natural pregnancy, with an incidence rate of only 1 in 200,000-2,500,000, represents a major health risk for reproductive-aged women, leading to even life-threatening complications. There is a lack of data on the prevalence of this rare disease after in-vitro fertilization-embryo transfer (IVF-ET) cycles.
    UNASSIGNED: We present a case of a 51-year-old woman with rare unilateral twin ectopic pregnancy after frozen embryo transfer treated with bilateral salpingectomy, followed by a review of the literature.
    UNASSIGNED: Twin ectopic pregnancy is a very rare type of pregnancy that requires a high index of suspicion to diagnose and treat early to prevent complications and maternal death.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    汗血是一种极其罕见的疾病,其特征是血液通过完整的皮肤和粘膜渗出或分泌,特别是通过内分泌腺体。虽然关于这种情况的文献不多,汗症的例子包括哭泣和出汗。液体可能有血腥的色调或可能是坦率的血液。这种异常没有可识别的病因,患者通常处于良好的健康状况。在这份报告中,我们介绍了一名19岁的女性,她每周都会出现血腥的出汗,并且持续了一年。在她在血液科诊所的演讲中,她被彻底调查了其他原因,但没有找到。患者被诊断为汗症,并接受了普萘洛尔治疗,她拒绝了。她继续在血液学诊所进行常规随访,症状持续存在。
    Hematohidrosis is an extremely rare condition characterized by the oozing or secretion of blood through intact skin and mucosa, particularly through eccrine glands. Although there is not much literature available on the condition, examples of Hematohidrosis include the crying and sweating of blood. The fluid may have a bloody tinge or may be frank blood. The anomaly has no identifiable etiology, and patients generally present in a good state of health. In this report, we present a 19-year-old female who had weekly occurrences of bloody diaphoresis that had been present consistently for one year. During her presentation at the hematology clinic, she was investigated thoroughly for alternative causes, but none were found. The patient was diagnosed with hematohidrosis and was offered treatment with propranolol, which she declined. She continues to follow up routinely in the hematology clinic with persistent symptoms.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    局部淀粉样变是一种罕见的疾病,其特征是错误折叠蛋白在组织中沉积,没有其他系统性表现。迄今仅报道了少数舌的局部淀粉样变性病例,与系统性淀粉样变性相反,在舌头上的定位是常见的。这项研究提出了一种罕见的舌头局部淀粉样变性(淀粉样变性)病例,并提供了已知的局部淀粉样变性文献的总结。这项研究描述了一名36岁女性舌根肿胀的情况。根据体格检查的结果诊断为淀粉样瘤,头颈部MRI表现及偏振光下刚果红染色的组织病理学检查。组织病理学诊断如下:局部λ轻链淀粉样变性。耳鼻喉科和血液/肿瘤科进行了彻底的体检,没有发现全身性疾病的迹象.还进行了一系列血液学和成像测试以验证没有全身受累的迹象。患者拒绝手术切除,2年的随访未发现肿瘤尺寸有任何变化。尽管局限性淀粉样变性的病因尚不清楚,组织浆细胞对环境抗原的长时间反应可能是肿瘤形成过程开始的原因。
    Localized amyloidosis is a rare condition characterized by the deposition of misfolding protein in a tissue, without other systemic manifestations. Only a small number of cases of localized amyloidosis of the tongue have been reported to date, in contrast to systemic amyloidosis, in which localization on the tongue is common. This study presents a rare case of localized amyloidosis of the tongue (amyloidoma) and provides a summary of the known literature of localized amyloidosis. This study describes the case of a 36-year-old female who presented with a swelling of the tongue base. The diagnosis of amyloidoma was made based on the findings of the physical examination, head and neck MRI findings and the histopathological examination with Congo red stain under polarized light. The histopathological diagnosis was as follows: Localized lambda light-chain amyloidosis. A thorough physical examination was performed by the ENT and Hematology/Oncology departments, without revealing signs of systemic disease. A series of hematological and imaging tests were also performed to verify that there was no sign of systemic involvement. The patient declined surgical excision and the 2-year follow-up did not reveal any changes in tumor dimension. Although the etiology of localized amyloidosis is yet not clear, the prolonged reaction of tissue plasma cells to environmental antigens may be a causative factor for the initiation of the neoplastic process.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    BACKGROUND: Hypersensitivity is a rare adverse drug reaction (ADR) associated with anti-epileptic medications. Phenytoin is one of the commonly used drugs for treatment of epilepsy that encounters a hypersensitivity reaction. This reaction can be ranged from mild cutaneous rash to anticonvulsant hypersensitivity syndrome (AHS) or drug reaction with eosinophilia and systemic symptoms (DRESS) that includes fever, rash, eosinophilia and involvement of multiple internal organs.
    METHODS: A 15 year old middle eastern female patient from Gaza strip with free past medical and allergic history. She presented to An-Najah National University Hospital (NNUH) in Nablus with intermittent high grade fever, jaundice, rash and skin peeling. On examination, she had axillary and inguinal lymphadenopathy, moderate splenomegaly and diffuse maculopapular rash. The patient was on phenytoin which started 1 month prior to her presentation as a seizure prophylaxis due to previous head injury. Eventually, the patient was diagnosed with AHS/DRESS.
    CONCLUSIONS: AHS is a diagnosis of exclusion and it is significantly underreported that requires a high index of suspicion. We liked to share this case and shed the light in more details on AHS/DRESS. Our goal was to help making AHS more reported in the literature in adolescent patients, as well as to make physicians more alert of this condition\'s seriousness when they prescribe antiepileptic medications in particular. In this report, we included the first case of AHS which was reported in an adolescent patient in Palestine. Moreover, we reviewed the available literature for a better understanding of the pathophysiology and management of AHS. We still believe that the full understanding of the pathogenesis of AHS is lacking, and also we are lacking a clinical tool or scoring system to determine the severity of AHS/DRESS.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Sci-hub)

公众号