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Typical Imaging Findings of Renal Oncocytoma 肾嗜瘤细胞瘤的典型影像学表现
Pub Date : 2022-01-27 DOI: 10.29245/2572-9411/2022/1.1203
B. Dua, Rajaram Sharma, T. Tiwari, S. Goyal
For the past few decades, a solid mass in the kidney with avid enhancement was considered renal cell carcinoma (RCC). With the advancement in radiological interventions, the understanding and treatment of a large number of tumours has changed. Oncocytomas are solid benign renal masses contributing 3-7% in all renal neoplasms. We report a case of a 32-year-old male who presented to our medicine OPD with abdominal pain and discomfort for about one month, later diagnosed with oncocytoma. We emphasize the importance of the typical imaging findings for the diagnosis and characterization of renal tumors.
在过去的几十年里,肾内有明显强化的固体肿块被认为是肾细胞癌(RCC)。随着放射干预技术的进步,对大量肿瘤的认识和治疗发生了变化。嗜瘤细胞瘤是良性实性肾肿块,占所有肾肿瘤的3-7%。我们报告一个32岁的男性病例,他以腹痛和不适就诊于我们的内科门诊,后来被诊断为嗜瘤细胞瘤。我们强调典型的影像学表现对肾脏肿瘤的诊断和特征的重要性。
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引用次数: 1
Ankylosing Spondylitis associated with Adult Still's Disease: The First Senegalese Case Report 与成人Still病相关的强直性脊柱炎:塞内加尔首例病例报告
Pub Date : 2021-12-10 DOI: 10.29245/2572-9411/2021/2.1202
M. Niasse, A. Ndao, Ramadhane Bouchrane, S. Charifah, A. Bah, S. Diallo
Ankylosing spondylitis is the most common type of spondyloarthritis1, a group of diseases characterized by axial skeleton and sacroiliac involvement, peripheral joints and/or entheseal involvement and extra-articular manifestations1,2. Other types of spondyloarthritis are psoriatic arthritis, reactive arthritis, arthritis associated with cryptogenetic inflammatory bowel disease, S.A.P.H.O. (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis), juvenile spondyloarthritis and undifferentiated forms. All other forms of spondyloarthritis can develop into ankylosing spondylitis1,2. This form, which can also occur at the outset, is characterized by the presence of sacroiliitis, often associated with stiffness and spinal deformities1,2,3.
强直性脊柱炎是最常见的一种脊柱炎1,是一组以累及中轴骨骼和骶髂关节、周围关节和/或骨骺受累以及关节外表现为特征的疾病1,2。其他类型的脊柱炎有银屑病关节炎、反应性关节炎、与隐源性炎症性肠病相关的关节炎、S.A.P.H.O.(滑膜炎、痤疮、脓疱病、骨质增生和骨炎)、青少年脊柱炎和未分化形式。所有其他形式的脊柱炎都可以发展成强直性脊柱炎1,2。这种形式,也可以在一开始就发生,其特征是存在骶髂炎,通常与僵硬和脊柱畸形有关1,2,3。
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引用次数: 0
Caregiver Support in Fibrodysplasia Ossificans Progressiva 进行性骨化性纤维发育不良患者的护理支持
Pub Date : 2021-07-05 DOI: 10.29245/2572-9411/2021/1.1200
M. Mukaddam, K. Cheung, Sammi Kile, Michelle R. Davis, F. Kaplan, R. Pignolo
Background:Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease characterized by malformed great toes and progressive heterotopic ossification (HO) in soft tissues. Current standard-of-care is aimed at palliation of symptoms; there are no currently approved therapies to prevent HO. Recurrent episodes of HO starting in early life lead to cumulative disability, severe functional limitations, and shortened life span. Most individuals require assistive devices and extensive caregiver support before the second decade of life. Caregiver support is thought to be high, but the timing and extent of caregiver support in FOP has not been formally assessed. Methods: Using data from the International FOP Association (IFOPA) Global Registry on 299 patients (median age 21 years; range 0.1 to 78 years) from 54 countries, we characterized the extent of caregiver support by assessing the number of part-time and full-time caregivers and school aides reported by participants, based on age. Results: Over 50% of FOP Registry respondents reported a need for part-time or full-time home personal care attendants. The percentage of individuals who reported a requirement for bathing attendants and part- or full-time home personal care attendants increased with age (>1 part-time or full-time caregiver exceeded 30% for individuals >15 years of age), as did the number of part-time or full-time attendants. Support from school aides peaked between 9 and 15 years of age. Conclusion: Caregiver support in FOP is high in terms of time and amount of support needed, increases rapidly with age, and is substantial by the second decade of life. These findings highlight the urgent need for transformative treatments that will preserve the independence of individuals with FOP.
背景:进行性骨化纤维发育不良(FOP)是一种极其罕见的疾病,其特征是大脚趾畸形和软组织进行性异位骨化(HO)。目前的护理标准旨在减轻症状;目前还没有批准的治疗方法来预防HO。早期开始的HO反复发作会导致累积性残疾、严重的功能限制和缩短寿命。大多数人在生命的第二个十年之前需要辅助装置和广泛的护理人员支持。护理人员的支持被认为是高的,但在FOP中护理人员支持的时间和程度尚未得到正式评估。方法:使用来自国际FOP协会(IFOPA)全球注册中心的299例患者(中位年龄21岁;范围从0.1岁到78岁),我们通过评估参与者报告的兼职和全职照顾者和学校助手的数量来描述照顾者支持的程度,基于年龄。结果:超过50%的FOP登记处受访者报告需要兼职或全职家庭个人护理人员。报告需要洗浴服务人员和兼职或全职家庭个人护理人员的个人百分比随着年龄的增长而增加(>1名兼职或全职护理人员超过15岁的个人的30%),兼职或全职护理人员的数量也是如此。学校助理的支持在9岁到15岁之间达到顶峰。结论:FOP患者需要的照顾者支持在时间和数量上都很高,随着年龄的增长而迅速增加,并且在生命的第二个十年是实质性的。这些发现强调了迫切需要变革性治疗,以保持FOP患者的独立性。
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引用次数: 2
Prolactinoma as a Cause of Persistent Hyperprolactinemia in 6-Pyruvoyl-tetrahydropterin synthase Deficiency 催乳素瘤是6-丙酮酰四氢蝶呤合酶缺乏症患者持续高催乳素血症的原因
Pub Date : 2020-07-01 DOI: 10.29245/2572-9411/2020/2.1191
Zainab Almasseri, Manal Jilwan, A. Almadani, M. Al-Owain, R. Gama, R. Sulaiman
Prolactinoma as a Cause of Persistent Hyperprolactinemia in 6-Pyruvoyl-tetrahydropterin synthase Deficiency Zainab Almasseri1, Manal NicolasJilwan2, Ahmad Khaled Almadani1, Mohammad Al-Owain1,5, Rousseau Gama3,4, Raashda Ainuddin Sulaiman1,5* 1Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia 2Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia 3Blood sciences, The Royal Wolverhampton NHS trust, Wolverhampton, UK. 4School of Medicine and Clinical Practice, Wolverhampton University, UK 5College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
催乳素瘤是6-Pyruvoyl-tetrahydropterin synthase缺乏症患者持续高催乳素血症的原因Zainab Almasseri1, Manal NicolasJilwan2, Ahmad Khaled Almadani1, Mohammad Al-Owain1,5, Rousseau gam3,4, Raashda Ainuddin Sulaiman1,5* 1沙特阿拉伯利雅得费萨尔国王专科医院和研究中心医学遗传学部2沙特阿拉伯利雅得费萨尔国王专科医院和研究中心放射科3血液科学皇家伍尔弗汉普顿NHS信托,伍尔弗汉普顿,英国。4英国伍尔弗汉普顿大学医学与临床实践学院5沙特阿拉伯利雅得阿尔费萨尔大学医学院
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引用次数: 1
The Known Unknowns: Missing Pieces in in vivo Models of Fragile X Syndrome 已知的未知:脆性X综合征体内模型中的缺失部分
Pub Date : 2020-06-01 DOI: 10.29245/2572-9411/2020/1.1190
P. Kulkarni, Aarti Sevilimedu
Fragile X Syndrome (FXS) is a rare disease and the leading monogenic cause of Autism Spectrum Disorders (ASD). It is caused by the silencing of the Fragile X mental retardation (FMR1) gene and the subsequent reduction or loss of fragile X mental retardation protein (FMRP). The clinical effects seen in FXS patients are several and highly variable making it difficult to model them in a single model or even one organism. Furthermore, several human behaviours can be measured only through surrogate endpoints in animals. Therefore, it has been challenging to develop in vivo models of FXS for drug discovery.
脆性X染色体综合征(FXS)是一种罕见的疾病,是自闭症谱系障碍(ASD)的主要单基因原因。它是由脆性X智力发育迟滞(FMR1)基因的沉默和随后脆性X智力发育迟滞蛋白(FMRP)的减少或丢失引起的。在FXS患者中观察到的临床效果是多种多样且高度可变的,因此很难在单个模型甚至一个生物体中对其进行建模。此外,人类的一些行为只能通过动物的替代终点来测量。因此,开发FXS的体内模型用于药物发现一直是一个挑战。
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引用次数: 3
Malignant Degeneration into Chondrosarcoma of Multiple Exostosis Disease: The First Senegalese Case Report 多发性外生性疾病的恶性变性软骨肉瘤:第一例塞内加尔病例报告
Pub Date : 2019-11-01 DOI: 10.29245/2572-9411/2019/3.1185
M. Niasse, B. S. Kane, A. Gaye, E. Ndiaye, I. Faye, M. Sow, Tafsir Ka, A. Diallo, A. Faye, S. Diallo
Malignant Degeneration into Chondrosarcoma of Multiple Exostosis Disease: The First Senegalese Case Report Moustapha Niasse1*, Baïdy Sy Kane2, Abdou Majib Gaye3, El Hadji Modou Ndiaye2, Ibrahima Faye4, Maïmouna Sow2, Tafsir Ngary Ka2, Alioune Badara Diallo2, Atoumane Faye2, Saïdou Diallo1 1Department of Rheumatology, Aristide Le Dantec Teaching Hospital; Cheikh Anta DIOP University of Dakar, Senegal 2Department of Internal Medicine, Aristide Le Dantec Teaching Hospital; Cheikh Anta DIOP University of Dakar, Senegal 3Department of Anatomy and pathology, Aristide Le Dantec Teaching Hospital; Cheikh Anta DIOP University of Dakar, Senegal 4Department of Radiology, Aristide Le Dantec Teaching Hospital; Cheikh Anta DIOP University of Dakar, Senegal
多发性外生骨病恶性变性为软骨肉瘤:塞内加尔首例报告Moustapha niass1 *, Baïdy Sy kan2, Abdou Majib gay3, El Hadji Modou ndiay2, Ibrahima Faye4, Maïmouna Sow2, Tafsir Ngary Ka2, Alioune Badara Diallo2, Atoumane Faye2, Saïdou Diallo12 aritide Le Dantec教学医院内科;3 aritide Le Dantec教学医院解剖病理教研室;4 aritide Le Dantec教学医院放射科;谢赫·安塔·迪奥普大学,塞内加尔
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引用次数: 0
Commentary: "Quality of Life in Caregivers of Children and Adolescents with Osteogenesis Imperfecta" 评论:“患有成骨不全症的儿童和青少年护理人员的生活质量”
Pub Date : 2019-07-01 DOI: 10.29245/2572-9411/2019/3.1175
Ana Paula Vanz, T. Félix, N. S. Rocha, I. Schwartz
Commentary: “Quality of Life in Caregivers of Children and Adolescents with Osteogenesis Imperfecta” Ana Paula Vanz1, Têmis Maria Félix2,3, Neusa Sica da Rocha4, Ida Vanessa D. Schwartz2,5* 1Nurse department, Faculdades Integradas de Taquara, Taquara, Brazil 2Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil 3Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil 4Postgraduate Program in Medical Sciences: Psychiatry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil 5Department of Genetics, Universidade Federal do Rio Grande do Sul, Brazil
评论:“成骨不全儿童和青少年护理人员的生活质量”Ana Paula Vanz1, Têmis Maria f, 2,3, Neusa Sica da Rocha4, Ida Vanessa D. schwartz2,5 * 1护理部,Taquara综合学院,Taquara, Taquara,巴西2医学遗传学服务,Clínicas de de Alegre Porto,巴西3儿童和青少年健康研究生课程,南里奥格兰德州联邦大学,巴西4医学科学研究生课程;南里奥格兰德州联邦大学精神病学,阿雷格里港,巴西5南里奥格兰德州联邦大学遗传学系,巴西
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引用次数: 4
Metastatic Carcinoma to the Testis - A Mini Review 睾丸转移癌-一个小回顾
Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1177
Gang-ping Wang
Metastatic carcinomas to the testis are extremely rare and have been reported only in autopsy series or case reports. However, when they occur, the metastatic tumors in the testis are usually unilateral and solitary, may have overlap growth patterns and cytological features with primary testicular tumors, including those of rete/epididymis origin, mesothelial origin and Sertoli cell tumor. It will make the diagnosis very challenging, especially when there is no known history of a primary tumor in other sites. Metastatic prostatic adenocarcinoma counts nearly half of the overall metastatic carcinoma in the testis, followed by colorectal carcinoma and renal cell carcinoma. Here, we review our experience and summarize the reported cases from the literature, to emphasize some of the unusual aspects of metastatic carcinoma to the testis, and discuss the main differential diagnoses for this rare condition. Awareness of the features of these tumors, consideration of the possibility of metastasis and appropriate ancillary studies are the keys to the accurate diagnosis of these cases.
睾丸转移癌极为罕见,仅在尸检系列或病例报告中报道过。然而,当它们发生时,睾丸转移性肿瘤通常是单侧和孤立的,可能与原发性睾丸肿瘤有重叠的生长模式和细胞学特征,包括起源于尿道/附睾、间皮起源和支持细胞肿瘤。这将使诊断非常具有挑战性,特别是当没有其他部位的原发肿瘤病史时。转移性前列腺腺癌占睾丸转移性癌的近一半,其次是结直肠癌和肾细胞癌。在此,我们回顾我们的经验,总结文献中报道的病例,强调睾丸转移癌的一些不寻常的方面,并讨论这种罕见疾病的主要鉴别诊断。了解这些肿瘤的特点,考虑转移的可能性并进行适当的辅助研究是准确诊断这些病例的关键。
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引用次数: 4
http://www.rarediseasesjournal.com/old-issues.php?journal=jrdrt&&v=4&&i=2&&y=2019&&m=April http://www.rarediseasesjournal.com/old-issues.php?journal=jrdrt&&v=4&&i=2&&y=2019&&m=April
Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1172
Boris Ariel, I. Dvorakovskaya, L. Novikova, M. Ilkovich
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引用次数: 1
High Molecular Weight Hyaluronic Acid (Hyalubrix/HyalOne) for Treating Symptomatic Hip Osteoarthritis 高分子量透明质酸(Hyalubrix/HyalOne)用于治疗症状性髋关节骨关节炎
Pub Date : 2019-04-01 DOI: 10.29245/2572-9411/2019/2.1181
A. Migliore, G. Gigliucci, S. Tormenta, A. Cata, L. Gallelli, G. Iolascon
High Molecular Weight Hyaluronic Acid (Hyalubrix/HyalOne) for Treating Symptomatic Hip Osteoarthritis Alberto Migliore1*, Gianfranco Gigliucci1, Sandro Tormenta2, Angelo De Cata3, Luca Gallelli4, Giovanni Iolascon5 1Rheumatology Unit and Research Center, S. Pietro Fatebenefratelli Hospital, Rome, Italy 2Radiology Unit, S. Pietro Fatebenefratelli Hospital, Rome, Italy 3Department of Medical Sciences, Division of Internal Medicine and Rheumatology Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy 4Chair of Pharmacology Department of Health Science, University of Catanzaro School of Medicine, and Operative Unit of Clinical Pharmacology and Pharmacovigilance, Azienda Ospedaliera MaterDomini, Catanzaro, Italy 5Department of Medical and Surgical Specialties and Dentistry, University of Campania “Luigi Vanvitelli”, Naples, Italy
高分子透明质酸(hyalbrix /HyalOne)治疗症状性髋关节骨关节炎Alberto Migliore1*, Gianfranco Gigliucci1, Sandro torment2, Angelo De cat3, Luca Gallelli4, Giovanni Iolascon5 1意大利罗马S. Pietro Fatebenefratelli医院风湿病科和研究中心2意大利罗马S. Pietro Fatebenefratelli医院放射科3内科和风湿病科医学学部;IRCCS Casa Sollievo della Sofferenza医院,San Giovanni Rotondo (FG),意大利4卡坦扎罗大学医学院药理学系主任,临床药理学和药物警戒手术单元,意大利卡坦扎罗,意大利5意大利那不勒斯坎帕尼亚大学“Luigi Vanvitelli”医学和外科专业和牙科学系
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引用次数: 1
期刊
Journal of rare diseases research & treatment
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