CASE REPORT
treatment
Bayaspirin 0.1 qd Clopidogrel 75mg qd Lipitor 20mg qn Metformin 0.5 tid Glucobay 50mg tid Diovan 80mg qd Amlodipine 5mg qd Mexiletine 150mg tid
Biological tests
Sodium,Potassium,Glucose,Serum Creatinine,AST,ALT(normal)
Triglycerides 0.99(0.56-1.70mmol/L)
Total cholesterol 4.63(2.8-5.9mmol/L) HDL-C 1.3(0.9-1.55mmol/L) LDL-C2.85(2.07-3.36mmol/L)
Risk factors:
Hypertension:one year /level 2 Smoking-no Diabetes :fifteen years
Past medical history
No rheumatic heart disease, asthma,jaundice. No symptom of gastrointestinal tract
Case Report 2012.6.6
• Age :84 • Sex:male • Race :Han
Chief complaint:Recurrent chest discomfort and palpitation for a month
History of present illness:The patient suffered from Chest discomfort one month ago. The duration is several minutes, and the symptoms can be released without treatment. ECG showed premature ventricular contractions.
question
1. Diagnosis ?
2. Following treatment: CAG?
3. 16/64 /128/256 MSCT or Gemstone Spectral HBCT?
Coronary CT
Diagnosis:
The images of multiple calcification plaque and noncalcified plaque can be seen in middle part of RCA, LAD and first diagonal branch. And the above vessel lumens are generally narrowed. The narrowest part is about 80%. The vessel lumen of LCX is moderate narrowed.
Two-dimensional echocardiography: Diastolic function of left ventricular was decreased Holter: sinus rhythm with frequent premature ventricular contractions (30296 beats / 24 hours).
Physical examination:
Cardiovascular system BP:165/85mmHg,
Jugular venous pulse: normห้องสมุดไป่ตู้l
heart rate 85bpm, irregular
Premature: 20 bpm
No parasternal heave/thrills Apex beat: normal Heart sounds: normal ,no cardical murmurs No ankle edema
迈向SCI之路：新英格兰杂志Casereport全文解析
迈向SCI之路：新英格兰杂志Casereport全⽂解析作为医学科研狗，当你没有经费，没有数据，统计跟英语都是渣渣的时候怎么样才能发表SCI呢，除了Meta分析，病例报道（Case report）可能是你迈向SCI之门的⾸选论⽂模式。
Case report是通过对⼀两个⽣动的病例进⾏记录和描述，使抽象的⼀般性的疾病表现和诊疗过程有了具体的形象的内容，试图在疾病的表现、机理以及诊断治疗等⽅⾯提供第⼀⼿感性资料的医学报告。
总结发现，⼀篇漂亮的Case report⾄少具备三个特征：1. 临床意义⼀篇个案报道最重要的是对临床实践的指导意义，这⼀点需要明确表达出来。
2. 引⼈⼊胜⼀篇个案报道必须写成⼀个简练但引⼈⼊胜的故事，这⼀点可以借鉴别⼈已经发表的东西。
注意：每个⼈都可能有不良习惯，需要借鉴的是学术界内能被⼴泛接受的东西，不能认为 “有⼈这么写，所以我也这么写”。
3. 符合习惯个案报道的语⾔表述必须符合学术界普遍认可的基本习惯。
举例⼀位医⽣⽂章第⼀句话是：In September 13, a 56-year-old male was admitted witha history of DiscTrode radiofrequency treatment ……编辑分析第⼀句话需要把⼊院的基本原因（例如双腿肿胀／疼痛2周）写出来。
⾄于以前接受过的治疗（即使被认为是主要症状的原因），需要放在稍后去说。
今天将⽤⼤篇幅从专业⽤词、典型句式、常⽤语法结构等⽅⾯，详细解读⼀篇Case report，标题为Thinking Inside the Box，于2010年8⽉发表在新英格兰杂志（The New England Journalof Medicine, IF 51.658）第363期574-579页(获取这篇⽂献全⽂可分享此⽂到朋友圈，截图发给⼩编后（微信号mrwxiaobian)即可获得。
A 62-year-old woman presented to a community hospital with nausea, vomiting, diarrhea, and fever, all of 1 week's duration.第⼀句话：主述。
case report SCI刀笔历
当你一无所有，没有资源、没有数据、不会统计、英语很差，怎么开始你的第一篇SCI呢？可以考虑做一个Case report（病例报道）。
作为一位医生，你可能没有时间做大样本的回顾，没有课题支持，没有经费可用，没有人手帮忙。
而且，在你有足够数量的SCI论文前，这些也绝不会有。
万事开头难。
怎样在你一无所有的时候开始你的第一篇SCI呢？作为一个中国医生，Case Report是一个很好的选择。
在我国，医生的优势就是患者量实在太大，千奇百怪的病例足够多。
只要这个病例够特别，而且你能够拿到这个病例完整的资料，那么这篇Case就可以写。
一个完整的Case Report包括以下几个部分：1. Abstract2. Introduction3. Case presentation4. Discussion5.References让我们以一个例子来说明。
这是一例关于肺腺癌患者中EGFR基因和EML-ALK基因共同突变的Case。
EGFR基因和EML-ALK基因是互斥的，极少共同突变，这个病例的特殊性，成为它可以发表的亮点。
1. Abstract六句话：第一句：关于肺癌；第二句：关于EGFR；第三句：EGFR基因与肺癌；第四句：关于EML4-ALK；第五句：EML4-ALK与肺癌；第六句：EGFR与EML4-ALK关系2. Introduction写两个部分：第一部分：逻辑上与摘要相同，只是展开一些讲，每一点用2-3句话，重点部分用4-6句话（本例就是：EGFR与EML4-ALK互斥，很少同时在同一患者肿瘤组织中发现。
同时陈述支持这一观点的几个重要文献和数据）。
第二部分：套话。
我们在这里报道EGFR与EML4-ALK同时positive的一例肺腺癌患者。
3. Case presentation这部分是文章的主体，最关键。
但却是全文最好写的部分。
为什么？因为你只需要陈述这个病例的全部情况就可以，女，45岁，因为XX入院，实验室检查发现……，手术发现……，病理提示……，免疫组化提示……而且，很多话是可以“拿来”的，好比一个填空一样，只是个别数值需要修改下就好。
case report范文
case report范文Title: A Miraculous Recovery: A Case ReportIntroduction:In this case report, we present the extraordinary journey of Mr. Smith, a 62-year-old man who experienced a life-threatening medical condition. This report aims to provide a comprehensive overview of his case, including the initial presentation, diagnostic workup, treatment interventions, and the remarkable recovery that followed. Mr. Smith's case highlights the importance of timely medical intervention, multidisciplinary collaboration, and the resilience of the human spirit.Clinical Presentation:Mr. Smith presented to the emergency department with severe chest pain, shortness of breath, and profuse sweating. His symptoms were suggestive of a myocardialinfarction, commonly known as a heart attack. Upon arrival, he appeared pale, diaphoretic, and in distress. His vital signs were unstable, with a blood pressure of 80/50 mmHgand a heart rate of 120 beats per minute. The gravity ofhis condition necessitated immediate resuscitative measures. Diagnostic Workup:An electrocardiogram (ECG) revealed ST-segmentelevation in leads II, III, and aVF, confirming the diagnosis of an inferior myocardial infarction. Further investigations, including cardiac enzyme markers and echocardiography, supported the diagnosis and provided valuable information regarding the extent of myocardial damage. Additionally, coronary angiography revealed acritical stenosis in the right coronary artery.Treatment Interventions:Given the severity of Mr. Smith's condition, a multidisciplinary team consisting of cardiologists, interventional radiologists, and cardiac surgeonscollaborated to devise an optimal treatment plan. Initially, he was stabilized with intravenous fluids, oxygen supplementation, and pain relief. Subsequently, he underwent emergent percutaneous coronary intervention (PCI) to restore blood flow in the occluded coronary artery. A drug-eluting stent was successfully placed, effectively resolving the stenosis.Recovery and Rehabilitation:Following the successful PCI, Mr. Smith's condition gradually improved. He was closely monitored in theintensive care unit for the first few days to manage potential complications and ensure optimal recovery. Physical therapy and cardiac rehabilitation were initiated early to enhance his cardiovascular fitness and prevent deconditioning. With each passing day, Mr. Smith's strength and endurance improved, and he regained his independence.Psychological Impact:While the physical recovery was remarkable, it isimportant to acknowledge the psychological impact that such a traumatic event can have on patients. Mr. Smith experienced anxiety, fear, and a sense of vulnerability during his hospitalization. A multidisciplinary team, including psychologists and social workers, provided emotional support, counseling, and education to help him cope with the psychological aftermath of the myocardial infarction. This holistic approach played a crucial role in his overall recovery.Conclusion:Mr. Smith's case demonstrates the critical importance of timely intervention, collaborative care, and comprehensive rehabilitation in achieving a successful recovery from a life-threatening medical condition. It also highlights the resilience and determination of individuals in overcoming adversity. By sharing this case report, we hope to inspire healthcare professionals to continue providing compassionate care and innovative interventions that can transform lives and restore hope.。
case report写作顺序
case report写作顺序
Case Report写作顺序
Case Report是医学文献中常见的一种写作形式，其主要目的是通过报告真实世界中的病例，展示某种疾病的临床特征、诊断、治疗方法和结局。
Case Report的写作顺序一般包括以下几个步骤：
1. 引言：简要介绍该病例的基本信息，包括患者年龄、性别、症状、体征、临床诊断等。
2. 病例描述：详细描述该病例的临床表现，包括症状、体征、检查结果等。
3. 诊断方法：阐述该病例的诊断方法和依据。
4. 治疗方法：描述该病例的治疗方法和过程，包括药物治疗、手术治疗、放射治疗等。
5. 治疗结果：描述该病例的治疗结果，包括治愈、好转、无效等。
6. 结论：总结该病例的特点和教训，提出建议和展望。
在撰写Case Report时，需要注意以下几点：
1. 病例描述要详细，尽量客观、准确、完整。
2. 诊断方法和治疗方法的描述要具体，要有依据。
3. 结论要简明扼要，要有针对性。
4. 语言要简洁明了，尽量避免使用过于复杂的句子和词汇。
关于SCI杂志中Casereport（个案报告）的写作与投稿
关于SCI杂志中Casereport（个案报告）的写作与投稿不会做实验，流行病学也不懂，meta好像很难的样子，在魔都三甲医院快被逼疯了，好像case report是我的唯一出路了。
真的么？让我们来八一八case report那些真相。
case report字数少，工作量小，写起来简单，轻松。
因此倍受很多国内作者的青睐，但这只是一个看起来“简单”的事情，实际“不简单”。
主要原因有三：1、绝大多数杂志发表case report的标准是：该类case report 没有人报道过；该case report对本专业的知识有重大贡献。
前一个标准好确定，到PUBMED上查一下就知道了。
第二个标准比较主观，不好确定，什么是“重大贡献”，不同的editors可能有不同的标准，有时候是否能够被接受完全取决于editors当时的心情；2、杂志给case report版面远少于给researcharticle的版面。
绝大多数杂志给case report的版面很有限，每期就1-3个cases的版面。
更有甚者，有些杂志根本不接受case report，有些杂志说：由于已接受的case report太多，2年内发不完，故近2年不接受casereport投稿。
至于为什么杂志case report版面少于researcharticle，是因为case report不易被引用，影响杂志社的IF 值，杂志社也是要活的嘛。
3、向杂志投稿的case report量大，因为casereport字数少，工作量小，故大多数临床作者都愿意写，愿意投，故投稿量大。
因此，发表标准有些主观，发表版面很少，但投稿量又大，造成了发表case report实际上是一件看起来“简单”但实际上“不简单”的事情。
若要投稿casereport，我们有以下建议：1、查看是否有创新性，如新发现基因位点突变，比以往报道长的20年（尤其在一些老医院多有这些资料）的随访等等，如PUBMED 上查询，已经有人报道，就直接放弃。
案例报告 Case Report Template
INSTRUCTIONS TO AUTHORSCase ReportsCASE REPORTS (Fewer than 2000 words)We receive a large number of case reports and typically accept those of exceptional teaching value.DEFINITION: Articles reporting a small number of patients (typically 1-5) patients with: (1) a diagnostic dilemma; (2) an unusual manifestation of disease processes; (3) an unusual treatment challenge; (4) an unanticipated early failure or complications of some treatment. We typically do not accept cases in which two entities are associated since conditions may occur coincidentally, rather than causally. Authors must include a comprehensive literature review if a rare event.∙ Must contain Introduction, Case Report, and Discussion. The Introduction should include the need and rationale for the new technique.∙Must use text TEMPLATE for guide: (see below).Authorship (Navigate below)We believe it important to document the adequate participation of all authors in at least three major elements of a study and report; the number of authors will generally relate to the scope of the project. For case reports we request no more than 4 authors. In all cases, however, multiple contributions of each author must be documented in our required form addressing copyright transfer, authorship, and conflicts of interest. Authors are encouraged to read “Thoughts on Authorship” Clin Orthop Rel Res 2008; 466:1002-5. Conflict of Interest statement (Navigate below)Authors of all manuscripts published in CORR must clarify any and all potential conflicts of interest. On the Title Page please note any funding or financial support or potential sources of conflict of interest:∙Consultancies, stock ownership, equity interest, patent/licensing arrangements, etc.∙If any author has directly received research funding and/or has potential conflicts of interest, State "One or more of the authors () has received funding from" and note the source and the initials of those authors who received funding in the parentheses.∙If your institution received any sort of support state, "The institution of the authors has received funding from" and note the source.∙If you received no financial support please note, "Each author certifies that he or she has no commercial associations (eg, consultancies, stock ownership, equity interest, patent/licensing arrangements, etc) that might pose a conflict of interest in connection with the submitted article."If you or any author have received or may receive any personal payment or in-kind benefit or other professional benefits from a commercial entity (eg, serve as aconsultant), please note, "Each author certifies that he or she has or may receive payments or benefits from a commercial entity related to this work."Ethical Review Committee Statement (Navigate below)Manuscripts involving humans or human data must be accompanied by a copy of the letter from your ethical committee approving your studyREMOVE ALL INSTRUCTIONS ABOVE PRIOR TO UPLOADING FINALDRAFT TO EDITORIAL MANAGERCase ReportTITLE PAGEThis page must include the following:∙ Title (containing fewer than 80 characters including spaces)∙ Running title (containing fewer than 40 characters including spaces)∙Author name(s) and final degree(s) (must follow authorship guidelines)∙The affiliation(s), and address(es), and e-mail addresses of all author(s)∙Conflict of interest statement∙Ethical review committee statement∙ A statement of the location where the work was performed (only if authors from multiple institutions)∙Word Count (Introduction through Discussion): Limit manuscript to fewer than 2000 words.∙The Corresponding Author name and e-mail address (must be same as Corresponding Author in Editorial Manager).1Abstract: Your Abstract must be structured with the following four sections and contain 2fewer than 250 words.3∙Background4∙Case Description∙Literature Review56∙Clinical Relevance7Introduction (maximum of 500 words)89∙All manuscripts must contain an Introduction, typically three paragraphs.10∙We suggest one paragraph of background (citing but not amplifying relevant11literature), one or two of rationale, and a final paragraph only stating the purposes 12of the report.13Case Report (maximum of 250 words for each case.)14∙Describe the history, physical examination, laboratory tests and imaging, treatment, 15and followup of each case.16Discussion ( maximum of 1000 words)∙Begin with a restatement of the novelty of the case or cases.1718∙Compare and contrast your case or cases with those in the literature; when relatively few cases have been reported, provide a table comparing the key findings or1920outcomes.21∙End with a summary of the literature.AcknowledgmentsNote any nonfinancial acknowledgments. Begin with, “We thank…” and note the nature of the contribution.∙Ensure your references are complete and in alphabetical order and proper format (modified AMA style - please see our published instructions on our Website).∙In-text citations should appear before commas and periods and located in a sentence immediately after the point they are documenting.∙Provide brief legends to include the major point.∙Figure legends should be written in complete sentences.∙Illustrations with multiple figures (eg, 1A, 1B, 1C) must be labeled "A," "B," and "C"in the lower left hand corner. Each illustration requires a separate legend.∙Figures should be uploaded and separately labeled in Editorial Manager.∙Color illustrations may be used for surgical photographs, photomicrographs, complex graphics; black and white should be used for other illustrations.。
case report 写作顺序 -回复
case report 写作顺序-回复1. 引言（Introduction）- 介绍案例背景和目的（200-300字）在引言中，作者首先应该提供一个简要的案例背景，描述患者的基本信息和相关症状。
此外，还应明确指出本次案例报告的目的，即要解决的问题或要提供的新见解。
2. 患者病史（Patient History）- 描述患者的医疗史和诊断过程（200-300字）在患者病史部分，作者应详细叙述患者就诊的时间、原因和医疗过程。
包括从患者首次就诊到最终的诊断和治疗方案的过程。
也可以包括一些重要的实验室检查结果和影像学报告。
3. 临床表现（Clinical Presentation）- 描述患者的症状和体征（200-300字）在这一部分，作者详细描述患者的临床表现，包括主诉、症状和体征。
可以根据时间顺序描述患者各个阶段的变化，并与相关文献进行对比分析。
4. 诊断过程（Diagnostic Process）- 描述患者的诊断过程和结果（200-300字）在这一部分，作者详细描述医生是如何通过不同的检查和实验室结果对患者进行诊断的。
还可以包括一些相关的影像学检查和生化检查结果。
最后，作者应明确指出最终的诊断结果。
5. 治疗过程（Treatment Process）- 描述患者的治疗过程和效果（200-300字）在治疗过程部分，作者详细描述患者接受的治疗方案以及治疗结果。
可以包括手术细节（如有），使用的药物和其他治疗方法。
同时，还应提供患者的疗效评估和随访结果。
6. 病因分析（Etiology Analysis）- 分析可能的病因和相关因素（200-300字）在这一部分，作者可以根据文献资料和自身观察，分析患者病因的可能性。
可以讨论各种可能性和其依据，并提供对每种可能性的评估和论证。
7. 讨论和结论（Discussion and Conclusion）- 对案例进行分析和总结（200-300字）在讨论和结论部分，作者可以根据已有的文献资料对患者的病情进行深入的分析和讨论。
医学病例报道case report文章英语用词用句
出生/妊娠情况∙was the first child born to unrelated healthy parents after a full-term pregnancy.∙The patient was born after a full-term pregnancy by caesarean section because of premature rupture of the membranes足月、剖腹产、胎膜早破∙she spontaneously breathed and cried.∙The proposita, a 15-year-old girl, was the product of the fifth full-term pregnancy.∙Polyhydramnios was present in the third trimester. 晚期妊娠羊水过多∙Anthropometrical data recorded at birth were: weight 1700g ( < 3rd centile) and height 40cm ( < 3rd centile).∙He was the first child of a nonconsanguineous 非近亲结婚Turkish couple born at term by normal spontaneous vaginal delivery. 顺产∙This 13-year-old boy was born to non-consanguineous Pakistani parents by Caesarean section and weighed 3.6 kg (50th centile) at birth.∙She was delivered by Cesarean for failure to progress 停育at 37 weeks’ gestation.∙Pregnancy was characterized by intrauterine growth retardation宫内发育迟缓, nuchal thickness, and turbidity of amniotic fluid requiring a caesarean birth at the 39th week of gestation.∙short femora 股骨短家人情况∙Her younger sister is healthy.∙ A 13-year-old girl was the second child born to a 42-yearold mother and an unrelated 43-year-old father∙There was no family history of short stature, mental deficiency or congenital anomalies∙He is the only affected member in his pedigree∙At the time of his birth, his father was 35 year-old, 170 cm tall, his mother was32 year-old, 157 cm tall and obese.∙He had two brothers; one was obese but had neither learning difficulties nor visual impairment.生长发育∙Her developmental milestones were normal∙At 11.5 years of age, her height was 129 cm ( – 3 SD), weight 29 kg ( – 1.5 SD), and occipitofrontal circumference 49 cm ( – 2.75 SD).∙Along with her cognitive profile, she showed difficulty in mathematics, reading and writing. 学习困难∙His height and weight have remained markedly below the 3rd percentile∙His height and weight have always been below the 3rd percentile∙Stature (115 cm, 10–25th centile) was disproportionate to the weight (30 kg, 97th centile)∙病情发现∙We call attention to∙Soon after birth, were noted.∙She attained menarche at∙The patient exhibited a full MS phenotype of the clinical and radiological criteria reported in MS, including∙Multiple/ Several congenital anomalies were noted at birth including cleft lip and palate唇腭裂, left facial paralysis左面部瘫痪, systolic heart murmur左面部瘫痪, pilonidal dimple, hypospadias with meatal stricture尿道下裂, congenital phimosis先天性包茎, right crytorchidism右隐睾and inguinal hernia腹股沟疝.∙Hypertension was documented at age 1 1 years∙Marked hyperopia was found on an ophthalmologic examination at age 21 years ∙At age 1 year he was felt to be developmentally delayed∙From infancy the mother noticed the existence of hearing-loss which remained untreated until adolescence.∙He has hypernasal speech because of adenoid hypertrophy.∙From age 3 years he frequently refused to walk complaining of painful legs.就诊原因∙She was referred to us for investigating her short stature at the age of 10 years ∙He was admitted to a state institution for the mentally retarded at age 30 years with ∙He was first referred to a pediatric nutritionist at the age of seven years for the exploration and management of polyphagia and obesity.∙He presented to endocrine clinic at age 11 for short stature and precocious puberty (onset at age 10), and had elevated FSH, and an enlarged left testis.∙特殊面容Craniofacial features/ Craniofacial features∙She had a flat wide facies with prominent prognathism, blepharophimosis, anda narrow mouth with a thin vermilion of the upper lip∙She had a short stature and an unusual square-shaped body habitus with horizontal position of the clavicles and shoulders along with a short neck∙flat wide facies with upward slanting palpebral fissures, blepharophimosis, and a flat nasal bridge with hypoplastic left nares and flat maxillary regions.∙She had a muscular build肌肉身材, brachycephaly短头畸形, frontal bossing 额部隆起, hypertelorism眼距过宽, a broad and prominent nasal bridge宽鼻梁, deep-set eyes 凹眼with short palpebral fissures短睑裂, midfacial hypoplasia面中部发育不良, small external ears小外耳, a short philtrum短人中, a narrow mouth窄嘴, a thin upper lip上嘴唇薄, downturned corners to the mouth嘴角向下翘, hypoplastic teeth发育不全的牙齿, a high palate高上腭, prognathism凸颚, a short neck短颈, Tanner III breast development and external genitalia, short upper limbs 短上肢(rhizo-acromelic shortening), cubitus valgus肘外翻, brachydactyly of the hands and feet手脚短指, clinodactyly of the fifth fingers指过弯, generalized nail dysplasia指甲发育不良, and normal skin and joint movements∙Facial dysmorphism indicative of Myhre syndrome included short palpebral fissures with ptosis, a flat face with mid-face hypoplasia, prognathism and a high arched palate∙Facial and limb morphology further suggested the diagnosis of MS检查∙Audiological examination revealed mixed conductive and sensorial hearing loss∙Radiological examination revealed a thick calvarium, mandibular protrusion，, shortening of the tubular bones, and large pedicles and thick neural arches, resulting in a narrow spinal canal.∙MRI showed thick basilar bone and large and thick clivus.∙The patient underwent a provocative test by insulin-induced hypoglycemia (ITT), thyrotropin-releasing hormone (TRH), and luteinizing hormone-releasing hormone (LHRH)∙Radiographic studies (Fig. 2) showed∙the peak GH response was∙the serum IGF-1 level was appropriate for a pubertal girl∙Physical findings at age 24 years (Fig. I) revealed/ showed a height of 140 cm, weight of 45 kg and a head circumference of 56 cm.∙On physical exam/ examination at age 18 years he had a height of 146 cm, a weight of 50.5 kg and a head circumference of 54.7 cm∙The skeletal survey showed multiple abnormalities∙His muscle mass and strength werc increased 升高∙The skeletal survey demonstrated multiple skeletal ab normalities identical to those pictiired in Case 1∙Psychological evaluation showed an IQ of 48∙ A muscle biopsy revealed fascicles of normal looking muscle fibres∙Gene sequencing analysis was carried out of all 11 coding exons of SMAD4 using the MiSeq next-generation sequencing platform∙Musculoskeletal examination revealed generalised stiff muscles, limited phalangeal extension∙Neurological examination was normal apart from clumsy gait with toe walking. ∙he was normotensive (120/65 mm Hg) 血压正常∙he had mild learning difficulties that necessitated additional educational support. 特殊教育∙Dermatological assessment of the proband revealed keratosis pilaris with a clinical impression of thickened skin. 皮肤病学Skin biopsy findings confirmed∙Three additional clinical genetics evaluations failed to identify a unifying diagnosis.∙检查结果正常∙Results of the routine biochemical studies were within the normal ranges.∙Results of the screening tests for metabolic defects, including analysis of urinary mucopolysaccharides and blood amino acids were normal.∙Routine karyotyping (G-bands) showed 46,XX, and the results of the array CGH (Agilent SurePrint G3 60K) were also negative∙EMG showed no abnormalities.∙Endocrinological studies (basalthyroid profile,LH, FSH, estradiol, cortisol, and IGF-1 serum determinations，thyroid profile) showed normal results.∙No signs of polycystic ovary syndrome were identified.∙The histology of a striated muscle biopsy was normal.∙Cardiovascular evaluations began at age 3 years when a twodimensional echocardiogram showed mild valvar pulmonic stenosis, and clinical follow-up suggested resolution∙Sequencing for Kabuki and Rubinstein–Taybi syndromes, (MLL2, CREBBP, and EP300) was normal∙Psychomotor development was normal 智力，精神发育正常被诊断∙She was diagnosed with∙We propose that∙The thick calvarium and thick and stiff skin were clues to the diagnosis of MS ∙She fulfilled the clinical criteria reported for MS.∙This finding indicated that her GH secretion was not defective.∙Gonadotropin responses were not excessive or inappropriate for an early pubertal girl.治疗∙necessitating hormone replacement therapy.∙The patient was diagnosed with skeletal dysplasia of unknown origin and treated for this condition for several years∙He required surgery for right cryptorchidism at the age of 1.5 years.∙The prednisone dose was raised (1 mg/kg/day) with a good clinical response ∙mycophenolate-mofetil (500 mg twice/day) was added for two months to the prednisone therapy.∙The starting dosage of anakinra was 1 mg/kg/day, subcutaneously. 皮下注射∙年龄At the age of 15,测序∙Direct sequence analysis of the coding lesions led to the identification of three missense mutations in the region ofSMAD4 coding for the MH2 domain∙No likely pathological copy number variants (CNVs) were detected in either case 1 or his mother on a 180 K oligo array CGH报道发病情况∙All cases have been sporadic and an autosomal dominant inheritance was suggested because of advanced paternal age.青春期∙These findings suggest that endocrinological abnormalities related to the hypothalamus–hypophysis feedback may be part of the syndrome. This has been proven at least in one male patient (Case 2, Burglen et al., 2003).∙the abnormal onset of puberty observed in three of our cases, two showing early onset (before the age of 9 years) and another one showing delayed puberty with hypergonadotrophic hypogonadism. Although these phenotypic manifestations are discordant, they may point to a disturbance in the hypothalamohypophyso-gonadal axis that should be investigated in further cases.疾病∙Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in SMAD4∙The characteristic phenotype includes∙Cardiomyopathy and pericardial abnormalities distinguish Myhre syndrome from other disorders caused by mutations in the TGF-b signaling cascade (Marfan, Loeys–Dietz, or Shprintzen–Goldberg syndromes)∙Major facial features were病例报道∙We report four newly described patients with typical features of Myhre syndrome who had∙To our knowledge, the severely shortened distal phalanges, shortened third metacarpals, and shortened proximal phalanges of digit 5 have not yet been reported elsewhere as being associated with BDA1 据我们所知，在其他地方尚未报道严重缩短远端指骨，缩短第三掌骨和缩短指骨5位与BDA1相关不明were not recorded。
如何写casereport97-2003文档
如何写casereport97-2003文档引言临床病例报告是描述和分析诊断和/或管理1或2 患者健康的第一线证据。
care.1，2,3病例报告已使用多年作为健康科学的方法教导学生，2,4是作者学术写作的最佳开端之一，他可以成为作者和读者共同2,5,6和宝贵的学习经验，尽管病例报告很有价值但由于各种原因许多期刊不再公布了这项研究设计。
过去的在病例报告上的侵权行为终于在一些杂志上消失。
有些期刊不再公布，一般应用中实践水平低，因为案件以证据为基础的，使得有一定的病例报告固有limitations.2，8,9,10,11有些案件增加量以科学知识体系来说太少了，这是作为一个停止出版原因cases.12其他因素，包括有限的页面空间在一本杂志，往往专注于实验研究，以及身材矮小的影响情况报告对日记？？的影响评价factor.13因此，这些期刊那些继续发表个案报告他们接受更多的，如果一个人渴望看到他或她的手稿宽限期1页同行评议的杂志，它需要的高品质。
使用一案的报告发表在一份杂志并没有很困难。
许多麻烦可避免通过了解必要的属性和零件的出版物案件report15值得，16 并具有一对同侪审查和理解出版过程。
本文讨论的原因写一份报告，报告的一个可写的风格，对病例报告的局限性，达到高潮的1病例报告编制一步一步的述。
会前提交检查表被列入在写作过程中提供协助。
这是我们的打算使写作过程更愉快的新和经验丰富的作家一样。
方法这篇文章是对一个先前的文件，是更新创建使用一对文献进行全面检讨通过年中2000.17因为很多人改变的案例报告，我们的要求认为这是适当的和必要的更新上次审查。
对于当前文件，我们搜查医学，护理累积索引和联合健康文学（CINAHL资料）和索引捏脊通过文学的2000年2006年9月。
搜索范围包括以下关键词：病例报告，作者，同行评审，手稿。
检索有关手稿来源进一步审查发现有关在每个环节提供的数据库和通过审查该论文的参考阅读。
英文写作 Case Report
Case ReportCase report can divided into three parts, namely, Introduction, Case History, and Discussion.1, INTRODUCTION is used to tell content, its purpose and significance. It should be as brief, and concise as possible and in present tense.Sample 1,Isolated false aneurysms of the innominate artery resulting from penetrating trauma are rare. We present one such case that was successful managed by resection and interposition grafting and emphasize the importance of arch aortography in the management of penetrating thoracic trauma.Sample 2,Malignant disease should be remembered in the differential diagnosis of common rheumtological disorders. We present a patient whose pain proved to be due to malignant disorder and not to simple trochanteric bursitis.2, CASE HISTORY consists of the patient’s gender, age, history, symptoms, tests, diagnosis as well as treatment. Details of the normal test results, the clinical process of post-operational and medication treatment should be recorded when necessary. If more cases are to be reported they should be numbered respectively “case 1”,” case 2”…2-1, General Introduction of Case History consists of the name, sex, general conditions and complaints of the patient as well as occupation and race if necessary. The real name and residential number shouldn’t be referred to. The language should be brief and in past tense.Sample 1, a 37-year-old woman with the previously uncomplicated pregnancies was seen 5 months into her third pregnancy with a two-week history of severe lower back pain.Sample 2, two women, aged 17 and 22 years, came to the accident and emergency department early in the afternoon. They described the acute on set of a diffuse rash 15 to 30 minutes after they had lunched together in a local pub.2-2 Symptoms and Clinical treatment;1), to tell about the typical symptoms, complications, diagnosis and treatment instead of other irrelevant materials.2), to tell about special examining method as well as its result.3), to tell about medication dosage; either smaller one or bigger one should be marked.4), to tell about effects of treatment: Are the symptoms relieved? Are there any complications? Are these in expectation?5), to tell about the result of treatment: Is the patient alive or dead? What are the current conditions? What treatment is the patient to be given?Sample 1 (description of symptoms), They described the acute onset of a diffuse rash 15 to 30minutes after they had lunched together in a local pub. Both felt hot and had passed two or three bowel motions. They had no respiratory symptoms and were otherwise systematically well. Neither had ever experienced an allergic reaction and the only medical history of note was that both used occasional salbutamol for mild asthma.Sample 2 (exanimation); On examination, both had diffuse erythematous rash widely spread over the face, torso and limbs. When symptoms did not resolve she was refereed to hospital where clinical examination revealed saddle anesthesia, reduced anal tone and absent ankle reflexes bilaterally.Sample 3 (treatment); They were given intravenous chlorpheniramine, hydrocortisone and fluids. After that, they were observed for a few hours and discharged when improved. Note: passive voice should be used in this description.3, DISCUSSIONTo focus on the case and to sum up the special experience and new views from the process of diagnosis and treatment. Present tense is used to show the objectivenessSample 1; Intravenous chlorpheniramine and hydrocortisone are helpful in treatment of diffuse erythematous rash.Sample 2, Many factors contribute to back pain during pregnancy.Sample 3, Diagnosis of midlife prolapse of a disc causing cauda equine compression is particularly important since a delay in surgical intervention can lead to permanent neurological deficits.Sample 4, We recommend that in pregnant and postpartum women back pain should not be looked upon merely as a normal occurrence. Detailed history and neurological examination are essential to identify the danger signs.(from “Back Pain During Pregnancy and After Childbirth: an Unusual Cause Not to Miss）。