clinical feature

临床特征
  • 文章类型: Journal Article
    背景:经常指示对鸡蛋过敏的患者避免食用其他禽类鸡蛋,比如鹌鹑蛋。然而,目前尚不清楚对鸡蛋有获得性耐受性的患者是否继续避免食用鹌鹑蛋。本研究旨在评估鹌鹑蛋摄入的临床特征。
    方法:本前瞻性病例系列包括2019年10月至2021年2月在我院招募的年龄≥1岁的鸡蛋过敏儿童。我们用三个煮熟的鹌鹑蛋进行了口服食物挑战(OFC),以评估对鸡蛋具有获得性耐受性的患者摄入鹌鹑蛋的临床特征。主要结果是摄入三个鹌鹑卵后OFC呈阳性。次要结果是通过皮肤点刺试验(SPT)观察到的母鸡和鹌鹑卵之间的交叉抗原性和鹌鹑卵过敏模式,包括反应的开始,和严重性。使用Pearson乘积-矩相关系数评估了母鸡和鹌鹑卵中的车轮直径与SPT之间的相关性。
    结果:共有62例患者接受了鹌鹑卵OFC。参与者的中位年龄(四分位距)为3(2-5)岁。33例(53%)患者有鸡蛋引起的过敏反应史。使用半个加热的整个鸡蛋接受OFC的患者的中位总免疫球蛋白E(IgE)水平为271(98-593)IU/mL。卵清和卵粘蛋白中的特异性IgE水平中位数分别为9.7(3.2-21.5)和4.4(1.3-6.9)UA/mL,分别。鹌鹑蛋OFC结果显示,吃了三个鹌鹑蛋的59名患者中没有一个完全有过敏反应。生鸡和水煮母鸡和鹌鹑蛋清的SPT阳性和SPT阴性率均相关。生母鸡和鹌鹑蛋清和蛋黄中具有SPT的风团直径呈正相关。
    结论:对鸡蛋具有获得性耐受性的患者可能不需要避免食用鹌鹑蛋。
    BACKGROUND: Patients with hen\'s egg allergy are often instructed to avoid consuming other avian eggs, such as quail eggs. However, it is unclear whether patients with an acquired tolerance to hen eggs continue to avoid consuming quail eggs. This study aimed to evaluate the clinical features of quail egg ingestion.
    METHODS: This prospective case series included children aged ≥1 year with hen\'s egg allergy who were recruited between October 2019 and February 2021 in our hospital. We conducted an oral food challenge (OFC) with three boiled quail eggs to evaluate the clinical features of quail egg ingestion in patients with acquired tolerance to hen eggs. The primary outcome was a positive OFC after ingesting three quail eggs. Secondary outcomes were cross-antigenicity between hen and quail eggs observed through the skin prick test (SPT) and pattern of quail egg allergy, comprising the onset of reaction, and severity. The correlation between the diameters of the wheals with SPT in hen and quail eggs was evaluated using the Pearson product-moment correlation coefficient.
    RESULTS: A total of 62 patients underwent the quail egg OFC. The median (interquartile range) age of the participants was 3 (2-5) years. Thirty-three (53%) patients had a history of anaphylaxis due to hen eggs. The median total immunoglobulin E (IgE) level in patients who underwent the OFC with half a heated whole hen\'s egg was 271 (98-593) IU/mL. The median specific IgE level in egg white and ovomucoid was 9.7 (3.2-21.5) and 4.4 (1.3-6.9) UA/mL, respectively. The quail egg OFC results revealed that none of the 59 patients who ate the three quail eggs completely had an allergic reaction. The SPT-positive and SPT-negative rates in raw and boiled hen and quail egg whites were both correlated. The diameters of wheals with SPT in raw hen and quail egg whites and yolks were positively correlated.
    CONCLUSIONS: Patients with an acquired tolerance to hen eggs may not be required to avoid consuming quail eggs.
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  • 文章类型: Case Reports
    布鲁氏菌病,由布氏杆菌引起的,是通过接触受感染的动物或其分泌物传播的传染病。临床疾病以发热和头痛为特征。相对心动过缓是心率对体温的不适当反应,尽管高烧,但心率不会成比例增加。在这份报告中,我们记录了一例布鲁氏菌感染,表明相对心动过缓。据我们所知,这是布氏杆菌病患者的相对心动过缓的首次报告。
    Brucellosis, caused by Brucella species, is an infectious disease transmitted through contact with infected animals or their secretions. The clinical disease is characterized by fever and headache. Relative bradycardia is an inappropriate response of heart rate to body temperature, in which the heart rate does not increase proportionally despite a high fever. In this report, we document one case of Brucella melitensis infection demonstrating relative bradycardia. To our knowledge, this is the first report of relative bradycardia in a patient with brucellosis.
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  • 文章类型: Case Reports
    背景:新生儿高胆红素血症是儿科医生面临的常见问题。遗传因素在新生儿黄疸中的作用已逐渐得到认可。这项研究旨在使用下一代测序(NGS)确定影响五名患者胆红素水平的遗传变异。
    方法:对5例重度高胆红素血症新生儿进行回顾性分析。他们表现出胆红素脑病,甲状腺功能减退,ABO血型不相容溶血,葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症和早产,分别。设计了一个定制的22基因面板,并对这些新生儿进行了NGS。八个变体(G6PDc.G1388A,HBA2c.C369G,ABCC2c.C3825G,UGT1A1c.G211A,SPTBc.A1729G,EPB41c.G520A,在这五名新生儿中鉴定出c.1213-4T>G和c.A1474G)。这些基因的基因突变与G6PD缺乏有关,地中海贫血,杜宾-约翰逊综合征,吉尔伯特综合征,遗传性球形红细胞增多症,和遗传性椭圆形细胞。发现其中一名新生儿具有EPB41剪接位点c.1213-4T>G和c.G520A的复合变体(p。E174K),但是在他4岁的血涂片上没有看到椭圆细胞。
    结论:重度新生儿高胆红素血症的病理因素复杂。遗传变异可能在新生儿高胆红素血症的风险增加中起重要作用。新生儿的严重黄疸可能与遗传变异的累积效应有关。
    BACKGROUND: Neonatal hyperbilirubinemia is a common problem faced by pediatricians. The role of genetic factors in neonatal jaundice has been gradually recognized. This study aims to identify genetic variants that influence the bilirubin level in five patients using next-generation sequencing (NGS).
    METHODS: Five neonates with severe hyperbilirubinemia were retrospectively studied. They exhibited bilirubin encephalopathy, hypothyroidism, ABO blood type incompatibility hemolysis, glucose-6-phosphate dehydrogenase (G6PD) deficiency and premature birth, respectively. A customized 22-gene panel was designed, and NGS was carried out for these neonates. Eight variations (G6PD c.G1388A, HBA2 c.C369G, ABCC2 c.C3825G, UGT1A1 c.G211A, SPTB c.A1729G, EPB41 c.G520A, c.1213-4T>G and c.A1474G) were identified in these five neonates. Genetic mutations of these genes are associated with G6PD deficiency, thalassemia, Dubin-Johnson syndrome, Gilbert syndrome, hereditary spherocytosis, and hereditary elliptocytosis. One of the neonates was found to have compound variants of the EPB41 splice site c.1213-4T>G and c.G520A (p.E174K), but no elliptocyte was seen on his blood smear of 4 years old.
    CONCLUSIONS: Pathological factors of severe neonatal hyperbilirubinemia are complicated. Genetic variants may play an important role in an increased risk of neonatal hyperbilirubinemia, and severe jaundice in neonates may be related to a cumulative effect of genetic variants.
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  • 文章类型: Case Reports
    我们介绍了一例罕见的COVID-19相关性结膜炎病例,患者出现红肿,异物感,浇水,和痛苦。症状开始时患者为COVID-19阳性。在检查中,存在严重的结膜充血和卵泡。双眼视力为6/6。患者开始使用局部抗生素,并表现出改善,但症状再次加重。结膜拭子被送去培养和敏感,这对任何生物都是阴性的。然后患者开始口服和局部类固醇,显示出改善。尽管COVID-19相关的结膜炎是自限性的,在这里,它显示了一个渐进的过程,只有在类固醇后才解决。
    We present a rare case of COVID-19 associated conjunctivitis where patient presented with redness, foreign body sensation, watering, and pain. Symptoms started while patient was COVID-19 positive. On examination, severe conjunctival congestion was present along with follicles. Visual acuity was 6/6 in both eyes. The patient was started on topical antibiotics and showed improvement but again presented with aggravated symptoms. Conjunctival swab was sent for culture and sensitivity, which was negative for any organisms. The patient was then started on oral and topical steroid, which showed improvement. Even though COVID-19 associated conjunctivitis is self-limiting, here it showed a progressive course and resolved only after steroid.
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  • 文章类型: Case Reports
    BACKGROUND: Myxopapillary ependymoma (MPE) is a pathological grade I tumor that arises in the filum terminale. MPE with anaplastic features is extremely rare, and only 5 cases have shown malignancy at the time of recurrence.
    METHODS: The patient (a 46-year-old woman) had undergone a MPE operation 30 years ago. After subtotal resection of the tumor located in L4-S1, it had a solid component that extended to the adjacent subcutaneous region. Histologically, the tumor consisted of a typical MPE with anaplastic features. The anaplastic areas of the tumor showed hypercellularity, a rapid mitotic rate, vascular proliferation, and connective tissue proliferation. Pleomorphic cells and atypical mitotic figures were occasionally observed. The MIB-1 index in this area was 12.3%. The immunohistochemical study showed immunoreactivity for vimentin, glial fibrillary acidic protein and S100. The morphological pattern and immunohistochemical profile were consistent with anaplastic MPE. The patient tolerated surgery well without new neurological deficits. She underwent local irradiation for the residual tumor and rehabilitation.
    CONCLUSIONS: Although extremely rare, anaplastic MPE occurs in both pediatric and adult patients, similar to other ependymomas. At a minimum, close monitoring is recommended, given concerns about aggressive biological potential. In the future, further study is needed to determine the WHO classification criteria and genetic indicators of tumor progression. The possibility of malignant transformation of MPE should be taken into account, and patients with MPE should be treated with care and follow-up.
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  • 文章类型: Case Reports
    免疫球蛋白G4相关疾病(IgG4-RD)是一种自身免疫性炎性疾病,其特征在于可以模拟表现为肿瘤样肿块的肿瘤的IgG4+浆细胞的浸润。这种疾病涉及胰腺,胆道,肾脏,唾液腺,淋巴结,主动脉,和腹膜后其他器官。然而,睾丸受累是这种疾病的罕见实体。IgG4-RD中睾丸受累的治疗目前存在争议。我们介绍了三个月前一名65岁男子的右阴囊肿胀和疼痛。在检查中,在右侧阴囊发现了一个直径约2厘米的移动肿块.血清学测试显示IgG4水平升高且肿瘤标志物阴性。阴囊的增强计算机断层扫描显示,右附睾上有一个直径约23毫米的结节状高密度阴影。右侧附睾病理活检显示浆细胞浸润,淋巴细胞,还有一些中性粒细胞.IgG4+浆细胞染色阳性,IgG4/IgG比例超过40%,每个高功率场超过30个IgG4浆细胞。诊断为涉及睾丸的IgG4-RD。给予泼尼松30mg/d,连续3周。6个月后随访未见阴囊肿胀或疼痛。每当遇到具有涉及多个器官/解剖部位的典型组织形态学特征的肿块样病变时,应考虑IgG4相关疾病。睾丸是男性重要的生殖器官,尤其是有生育要求的年轻男性患者。对于IgG4-RD睾丸受累的患者,手术或药物治疗需要进一步研究。
    Immunoglobulin G4-related disease (IgG4-RD) is an autoimmune inflammatory disease characterized by infiltration of IgG4+ plasma cells that can simulate a tumor manifesting as a tumor-like mass. This disease involves the pancreas, biliary tract, kidneys, salivary glands, lymph nodes, aorta, and retroperitoneum amongst other organs. However, testicular involvement is a rare entity in this disease. The treatment of testicular involvement in IgG4-RD is currently controversial. We present the case of a 65-year-old man with swelling and pain in his right scrotum three months ago. On examination, a mobile mass of approximately 2 cm in diameter was found in the right scrotum. Serological tests showed elevated levels of IgG4 and negative for tumor markers. Enhanced computed tomography of the scrotum showed a nodular hyperdense shadow with a diameter of approximately 23 mm on the right epididymis. Pathological biopsy of the right epididymis showed infiltration of plasma cells, lymphocytes, and a few neutrophils. IgG4+ plasma cells stained positive, with an IgG4/IgG ratio of more than 40% and more than 30 IgG4+ plasma cells per high-power field. A diagnosis of IgG4-RD involving the testicles was made. Prednisone 30 mg/d was given for three weeks. No scrotum swelling or pain was observed at the follow-up after six months. IgG4-related disease should be considered whenever a mass-like lesion with typical histomorphologic features involving multiple organs/anatomical sites is encountered. The testicles are an important male reproductive organ, especially for young male patients with fertility requirements. For patients with IgG4-RD testicular involvement, surgical or medical treatment requires further study.
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  • 文章类型: Case Reports
    脊髓小脑性共济失调3型(SCA3)是由共济失调蛋白3基因(ATXN3)中的杂合CAG重复扩增引起的神经退行性疾病。然而,在ATXN3的两个等位基因中携带扩展的CAG重复的纯合SCA3患者极为罕见.在这里,我们介绍了一例50岁女性患者,该患者的SCA3纯合子有62/62重复扩增.患者家庭的隔离分析显示CAG重复长度的收缩模式和稳定的传播。与杂合个体相比,本病例表现出更早的发病和更严重的临床表型,表明基因剂量增加了疾病的严重程度。
    Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely rare. Herein, we present a case of a 50-year-old female who had homozygous SCA3 with expansion of 62/62 repeats. Segregation analysis of the patient\'s family showed both a contraction pattern of CAG repeat length and stable transmission. The present case demonstrated an earlier onset and more severe clinical phenotype than that seen in heterozygous individuals, suggesting that the gene dosage enhances disease severity.
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  • 文章类型: Case Reports
    累及桥脑小脑角(CPA)区的畸胎瘤极为罕见,根据以往的文献仅描述了几例病例.在这里,我们报告了位于左CPA的罕见小儿畸胎瘤。本文件的目的是探讨临床表现,这种疾病的诊断和治疗。
    我们通过分析以前的文献和本病例报告来完成它。
    通过临床表现,影像学检查和HE染色,可以诊断畸胎瘤,并可以区分其他病变。在显微手术下完全切除肿瘤后获得了优异的结果。
    Teratoma involving of cerebellopontine angle (CPA) area is extremely rare, only several cases were described based on previous literature. Here we reported uncommon pediatric teratoma located in the left CPA. The purpose of this document is to explore clinical manifestations, diagnosis and and treatment of this disease.
    We accomplish it by analyzing the previous literature and this case report.
    Through clinical manifestations, imaging examination and HE staining, teratoma can be diagnosed and other lesions can be distinguished. The excellent outcome was obtained after tumor was totally removed under microsurgery.
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  • 文章类型: Case Reports
    先天性角化病(DC)是一种罕见的遗传性骨髓衰竭综合征,与多系统疾病有关。总结临床特点,流行病学,以及DC在中国大陆的治疗,我们回顾性回顾了在我院诊断为DC的2例患者的病历,并发表了中国大陆其他DC患者的报告.总结82例DC患者的临床特点。发病年龄中位数为5岁,但诊断时的中位年龄为16岁.骨髓衰竭发生率高达44%,而且很早就发生,中位发病年龄为6岁(范围1-40岁)。仅报道了DKC1、TINF2和TERT突变,这是一个相对简单的签名。再生障碍性贫血主要用低剂量雄激素治疗,糖皮质激素,或异基因造血干细胞移植,疗效为39%(14/36)。在中国,DC在婴儿中相对常见,发病年龄早,但诊断延迟。骨髓衰竭发生率高,发生率早。提高对DC的知识和认识,结合基因突变测试将有助于早期诊断和治疗。
    Dyskeratosis congenita (DC) is a rare-inherited bone marrow failure syndrome associated with multi-system disorder. To summarize the clinical features, epidemiology, and treatment of DC in mainland China, we retrospectively reviewed the medical records of two patients diagnosed with DC at our hospital and published reports on other DC patients in mainland China. The clinical features of 82 DC patients were summarized. The median age of onset was 5 years, but the median age at diagnosis was 16 years. Bone marrow failure occurred at a high rate of 44% and early, with a median onset age of 6 years (range 1-40 years). Only DKC1, TINF2, and TERT mutations were reported, which is a relatively simple signature. Aplastic anemia was treated mainly with low-dose androgens, glucocorticoids, or allogeneic hematopoietic stem cell transplantation, with an efficacy of 39% (14/36). In China, DC is relatively common in infants, with early age of onset but delayed diagnosis. Bone marrow failure occurred at a high rate and early. Improvement in the knowledge and awareness of DC combined with gene mutation tests will facilitate diagnosis and therapy in its early stages.
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  • 文章类型: Journal Article
    BACKGROUND: In adults, the emerging human adenovirus (HAdV) type 55 (HAdV-55) has been reported to cause more severe cases of adenovirus induced acute lower respiratory tract infections (ALRTIs) compared to other HAdV serotypes (HAdV-3, HAdV-7, HAdV-14). However, there is a dearth of comparative studies in children that address differences in the clinical epidemiological features between HAdV-55 and other HAdV serotypes that can also induce severe infection (such as HAdV-7).
    METHODS: We conducted a retrospective review of pediatric patients hospitalized at Beijing Children\'s Hospital with ALRTI from April 2008 to December 2013 who had adenovirus detected from nasopharyngeal or throat samples by PCR. We further compared pediatric patients infected with HAdV-55 to those infected with HAdV-7 using a case-control methodology by matching each subject with HAdV-55 infection to 4 patients with HAdV-7 infection within 2 months of each HAdV-55 infection. Demographic, clinical, and etiological data were collected and analyzed.
    RESULTS: Over the five-year period, HAdV was detected in 194 children. Of these, 8 were HAdV-55 positive. Epidemiological results showed that HAdV-55 infection was observed only in 4% of adenovirus infected children whereas HAdV-7 infection proportioned 53%. Most cases of HAdV-55 infection were identified during March and April, whereas HAdV-7 infection occurred throughout the year. Wheezing was significantly less frequent in the HAdV-55 group. No patients infected with HAdV-55 presented with vomiting or had any underlying disease. Coinfections with other respiratory tract pathogens were frequent among children infected with either HAdV-55 or HAdV-7.
    CONCLUSIONS: HAdV-55 circulated in Beijing during spring and appeared to cause pediatric respiratory infections that were as severe as HAdV-7 infections. Broader surveillance studies are needed.
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