rare condition

罕见的情况
  • 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.
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  • 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.
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  • 文章类型: Journal Article
    背景:整体减少(REM)是一种罕见的情况,在手动腹股沟疝(IH)减少后,疝囊被减少回腹膜前间隙,肠环嵌顿在囊的颈部。它类似于成功的手动还原,因此很容易被忽略。我们在此报告了一例通过腹腔镜成功治疗的IH的REM婴儿病例。
    方法:一名10个月大的男孩,在4个月大的时候有双侧开放性IH修复手术史,他的左腹股沟有隆起和呕吐。怀疑是左监禁复发性IH,并进行手动复位。疝气显然被成功地减少了,但腹胀和呕吐持续存在。他因症状入院接受进一步观察。入院后第2天,腹部X线片显示广泛的小肠梗阻(SBO)。增强的计算机断层扫描(CT)显示小肠突出,左腹股沟呈闭环。怀疑由于术后粘连或内部疝引起的闭环SBO。为了评估SBO的病因,计划紧急腹腔镜探查疝修补术。腹腔镜检查显示左嵌顿IH的REM,囊颈部腹膜增厚。进行了腹腔镜复位术,嵌顿的小肠没有缺血的迹象。疝囊与先前的阴道结扎过程无关,这是由以前的Potts程序关闭的。它位于阴道突起的内部。通过腹腔镜经皮腹膜外闭合手术成功闭合囊,髂耻骨束修复也通过先前的腹股沟切口进行。术后病程顺利。
    结论:小儿IH是由于阴道的专利过程,REM是非常罕见的。腹腔镜REM手术是成人诊断和治疗的一种相对普遍和有用的方法。在我们的婴儿案件中,对于这种罕见的IH患者,腹腔镜方法在调查SBO的病因和进行囊高位结扎方面同样有效.
    BACKGROUND: Reduction en masse (REM) is a rare condition following manual inguinal hernia (IH) reduction in which a hernia sac is reduced back into the preperitoneal space with a loop of the bowel incarcerated at the neck of the sac. It resembles successful manual reduction and may thus be overlooked easily. We herein report an infantile case of REM of an IH that was successfully treated laparoscopically.
    METHODS: A 10-month-old boy with a surgical history of bilateral open IH repair at 4 months old presented with a bulge in his left groin and vomiting. A left incarcerated recurrent IH was suspected, and manual reduction was performed. The hernia was apparently reduced successfully, but abdominal distention and vomiting persisted. He was admitted for further observation due to the symptoms. On day 2 after admission, abdominal X-ray showed extensive small bowel obstruction (SBO). Enhanced computed tomography (CT) revealed protrusion of the small bowel with a closed-loop in the left groin. A closed-loop SBO due to postoperative adhesion or an internal hernia was suspected. To assess the etiology of SBO, emergent laparoscopic exploration with hernia repair was planned. Laparoscopy revealed REM of the left incarcerated IH with a thickened peritoneum at the neck of the sac. Laparoscopic reduction was performed, and the incarcerated small bowel showed no signs of ischemia. The hernia sac was not associated with the previously ligated processes vaginalis, which had been closed by a previous Potts\' procedure. It was located at the inside of the processes vaginalis. The sac was successfully closed by laparoscopic percutaneous extraperitoneal closure procedures, and iliopubic tract repair was also performed via the previous inguinal incision. The postoperative course was uneventful.
    CONCLUSIONS: Pediatric IH is due to the patent processes vaginalis, and REM is extremely rare. Laparoscopic surgery for REM is a relatively common and useful approach for the diagnosis and treatment of adults. In our infantile case, the laparoscopic approach was similarly effective for both investigating the cause of SBO and performing high ligation of the sac for this rare condition with IH.
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  • 文章类型: Case Reports
    一名29岁的男子在脊髓损伤后5天出现亚急性创伤后脊髓上升病。他发烧,血液培养显示出碱性细菌。感染。尽管抗生素和大剂量皮质类固醇治疗,同样的神经缺陷持续存在,随访MRI显示颈髓萎缩和肿胀。
    A 29-year-old man developed subacute posttraumatic ascending myelopathy 5 days after a spinal cord injury. He developed a fever and a blood culture showed an Alkaligenes spp. infection. Despite antibiotic and high-dose corticosteroid therapy, same neurological deficits persisted, and a follow-up MRI showed atrophy and swelling in the cervical cord.
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  • 文章类型: Case Reports
    伴有半径缺失的血小板减少症(TAR)综合征是一种罕见的先天性综合征,遵循常染色体隐性遗传模式。TAR综合征的特征是血小板减少和前臂半径的双侧缺失(发育不全)。这种综合征可能与骨骼缺陷有关,心脏,肾,或胃肠系统。对于治疗TAR综合征患者的临床医生来说,重要的是要意识到其他器官系统中可能出现的各种并发症,以便及时诊断和治疗任何相关的异常。我们介绍了一名诊断为TAR综合征的非裔美国婴儿的病例,该婴儿还被发现患有5级膀胱输尿管反流和中度右肾积水,以及牛奶蛋白过敏。
    Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital syndrome that follows an autosomal recessive pattern of inheritance. TAR syndrome is characterized by thrombocytopenia and bilateral absence (aplasia) of the radii of the forearms. This syndrome can be associated with defects within the skeletal, cardiac, renal, or gastrointestinal systems. It is important for clinicians treating patients with TAR syndrome to be aware of the myriad of complications that may arise in the other organ systems in order to promptly diagnose and treat any associated anomalies. We present a case of an African American infant diagnosed with TAR syndrome who was also found to have grade 5 vesicoureteral reflux and moderate right hydronephrosis, as well as cow\'s milk protein allergy.
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  • 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.
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  • 文章类型: Journal Article
    Polyneuropathy Organomegaly Endocrinopathy Monoclonal gammopathy Skin changes (POEMS) Syndrome is a rare condition with an estimated prevalence rate of 0.3 per 100,000 people. Patient perspectives on healthcare experiences and quality of life have not yet been studied in depth. This novel study aimed to explore one person\'s lived experience of Polyneuropathy Organomegaly Endocrinopathy Monoclonal gammopathy Skin changes (POEMS) Syndrome, taking into consideration healthcare experiences in relation to diagnosis and treatment.
    A mixed-method design was used; one participant completed a semi-structured interview and three self-report measures: Hospital Anxiety and Depression Scale; World Health Organisation Quality of Life Scale (brief); Brief Illness Perception Questionnaire.
    Three qualitative themes appeared to influence the participant\'s healthcare experiences and quality of life: (1) Diagnosis and treatment, (2) identity and adjustment, and (3) recovery. Diagnosis and treatment summarised the patient\'s journey to receiving her diagnosis and the difficulties with treatment for this condition. Identity and adjustment included pre and post-diagnosis identity, frustrations and coping strategies. Recovery included experiences of progression and decline and service provision.
    All Multidisciplinary Team (MDT) interventions for Polyneuropathy Organomegaly Endocrinopathy Monoclonal gammopathy Skin changes (POEMS) Syndrome should be person-centred and focus on identity and personal strengths. Further research and service development should be completed to increase awareness and understanding of Polyneuropathy Organomegaly Endocrinopathy Monoclonal gammopathy Skin changes (POEMS) Syndrome, promote patient wellbeing, reduce psychological distress, and facilitate engagement in neurorehabilitation.Implications for rehabilitationPolyneuropathy Organomegaly Endocrinopathy Monoclonal gammopathy Skin changes (POEMS) Syndrome is a rare condition and incorrect diagnoses and treatment have a significant impact on patients\' physical and psychological wellbeing.Patients and families require support through person-centred care and good communication and continuity of care between multiple services.Multi-disciplinary interventions which focus on identity and strengths were beneficial for the participant in this case study.Further research and education are needed to increase knowledge on patient experiences of Polyneuropathy Organomegaly Endocrinopathy Monoclonal gammopathy Skin changes (POEMS) Syndrome and continue to improve service provision.
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  • 文章类型: Case Reports
    BACKGROUND: Primary central nervous system lymphoma is a rare, malignant non-Hodgkin lymphoma that can arise in the brain, spinal cord, eye, leptomeninges, or cranial nerves. Primary central nervous system lymphoma is rare, accounting for 2-6% of all primary brain neoplasms and 1-2% of all non-Hodgkin lymphomas, and it usually presents as a solitary lesion. Cerebellar involvement is present in only 9% of cases. We present an unusual case of primary central nervous system lymphoma presenting as multiple lesions in the cerebellum in an immunocompetent host.
    METHODS: A 71-year-old Caucasian man presented to our hospital with acute onset of dizziness, nausea, vomiting, and gait imbalance. Contrast-enhanced computed tomography revealed three intensely enhancing masses in the right cerebellar hemisphere. Whole-body positron emission tomography and computed tomography failed to demonstrate a primary tumor of origin outside the central nervous system. The patient underwent right suboccipital craniotomy with partial resection of the visible tumor from the right cerebellum. Histopathology revealed diffuse large B-cell lymphoma, non-germinal center type.
    CONCLUSIONS: Primary central nervous system lymphoma is rare, even more so in the cerebellum. However, the overall incidence of primary central nervous system lymphoma is rising in both immunocompromised and immunocompetent patients. The highly aggressive nature of primary central nervous system lymphoma necessitates timely diagnosis and intervention. In this report, we review the available literature for a better understanding of the pathophysiology and management of primary central nervous system lymphoma. To the best of our knowledge, this is the first reported case of a patient with primary central nervous system lymphoma presenting with multiple masses in the cerebellum.
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  • 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.
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