“Cross-over” duplication of middle cerebral artery,agenesis of internal carotid artery and saccular aneurysms

Summary The authors describe a patient with anomalous branches of the left internal carotid artery, cross-over duplication of its middle cerebral artery and agenesis of the contra-lateral internal carotid artery associated with two aneurysms successfully clipped. Pertinent literature is reviewed.     

OVERVIEW FOR THE DIAGNOSIS AND TREATMENT OF GALLBLADDER CARCINOMA

Objective. To improve the recognition of diagnosis and treatment of gallbladder cancer. Methods. Retrospective analysis of 52 cases of gallbladder carcinoma in our hospital from 1988 to 1998. Results. Preoperative diagnostic rate was 90.3%, of which 12 cases (23%) were early stage of carcinoma. The total operation resection rate was 55.8%, for which only 17.8% were advance stage of carcinoma. Conclution. The early diagnosis is the key factor of increasing treatment successful rate. The following are the symptoms that raise our special attention to carcinoma of gallbladder: ( 1 ) Age over 50 have recurrent eholecysfitis and with past history of gallstone; (2) Congenital malformation of bile duct; (3) Local thickening and irregularity of gallbladder,gall; (4) Polypoid lesion larger than lem inside gallbladder; (5) Atrophic gallbladder; (6) Intraluminal stone of gallbladder does not move when change in body position; (7) Regional lymph node enlargement.     

A method for the follow-up of clusters of adverse reproductive outcomes

Clusters of adverse reproductive outcomes are reported with increasing frequency to public health authorities. Most are random events and only a very small proportion is likely due to identifiable environmental agents. Often, a preliminary study confirms the existence of a spatial and temporal excess but no biologically plausible cause is found. These cases require a follow-up of incidence to identify any continuing excess. A conceptually simple fixed window technique of follow up is proposed. The power of the test is mainly influenced by the magnitude of the increase in rate, the number of adverse outcomes selected for observation and the acceptable false alarm rate. This technique has several advantages compared with other currently used methods. From a public health point of view, two important factors are to be considered in setting the parameters of the test: the delay in providing an answer for the community and the availability of resources for conducting environmental investigations.     

Diffusion of information about genetic risk within families

Recent developments in genetics are likely to exacerbate the ethical issues in clinical practice, especially with regard to privacy and disclosure of genetic information. To evaluate the behaviour of patients with respect to transmitting carrier information, we undertook a survey of 283 families with a balanced chromosomal rearrangement as a model. In these families, 1816 relatives were considered at risk and 806 of them were karyotyped (44.4%). The percentage of karyotypes performed is significantly related to the number of living children of the index couple, the reason for referral, the nature of the anomaly, the training of the counsellor and the age of the index case. This study shows the limits of the screening of at risk individuals within families, based on the willingness of the patients, and addresses practical and ethical issues around family disclosure in medical genetics.     

Anomalous Insertion of the Superior or the Inferior Vena Cava into the Right Atrium

Three cases with anomalous insertion of the superior or inferior vena cava into the right atrium are presented. One case was a 25-year-old healthy man with anomalous low insertion of the right superior vena cava into the right atrium. The remaining two cases were infants with complex cardiac anomalies showing anomalous high insertion of the inferior vena cava into the right atrium. The congenital anomalies of the connection between the superior and the inferior vena cava and the right atrium are rare. Angiographic and computed tomographic findings of these anomalies were reported.     

Surgery for Syringomyelia: An Analysis Based on 163 Surgical Cases

Summary ? Object. The authors analyzed the cases of 163 patients with syringomyelia to assess the appropriate surgical procedure. Methods. Depending on the aetiological factors and treatment considerations the series was classified into three groups. Group I were cases where there was no definite demonstrable aetiological factor; Group II cases had basilar invagination and/or Chiari malformation; and Group III consisted of cases where the syrinx was secondary to an obvious aetiology, such as a mass lesion either in the posterior cranial fossa or in the spine or a severe kyphotic spinal deformity. Post-traumatic syringomyelia and syrinx in association with spina bifida were not studied. Conclusions. We concluded that for Group I cases syringosubarachnoid shunting is the ideal form of treatment. In Group II cases foramen magnum bony decompression is satisfactory and physiological. Good results were obtained even in cases where either a foramen magnum decompression alone or in combination with a syringo-subarachnoid shunt was done. Only syringosubarachnoid shunt (without a foramen magnum decompression) in Group II cases was found to produce poor outcome. Group III cases should be treated for the primary aetiological problem. Only syrinx drainage procedure without treatment of aetiology in these cases produced poor results. It was observed that clinical outcome rather than radiological improvement is the reliable indicator of the surgical result.     

Peters异常PITX2及PAX6基因型表型分析

目的：分析中国人Peters异常(PA)患者的临床特征,研究Peters异常患者PITX2及PAX6基因变异情况。

方法：选取2016/2019年在常州市第二人民医院及第三人民医院眼科就诊的15例Peters异常患者,并收集详细的相关临床资料。征得患者及其家系成员的同意后抽血制备基因组DNA,用聚合酶链反应(PCR)对致病基因PITX2及PAX6的编码区及其临接内含子进行扩增后,直接测序筛查中国人群Peters异常患者PITX2及PAX6基因变异,异源双链-单链构象多态性分析(HA-SSCP)的方法对突变患者及其家系成员及80例正常对照进行验证; 分析比较国内已报道的Peters异常患者PITX2及PAX6基因突变并研究其相关表型。

结果：Peters异常患者15例PITX2基因突变筛查结果发现了1种新PITX2的突变c.296delG(P.R99fsx56),导致该基因的功能异常,分析突变患者临床特征,该患者右眼诊断为Axenfeld-Rieger综合征(ARS),左眼诊断为Peters异常。而家系成员中该患者父母及无亲缘关系的正常对照者均未发现相同突变,故此突变为新生突变。PAX6基因突变筛查未能发现突变。

结论：PA患者15例中检测到1个新PITX2基因突变,丰富了PITX2基因突变频谱,进一步明确了PA合并ARS眼病的临床特点,为该种少见眼病的临床诊断和发病原因提供了依据。     

320排动态容积CT诊断冠状动脉变异的临床研究

目的评价以320排动态容积CT冠状动脉成像诊断各种类型冠状动脉变异的价值及优势。方法回顾性分析30例经320排动态容积CT血管造影检出的冠状动脉变异病例,并根据CT结果对冠状动脉变异进行分类。结果 30例冠状动脉变异中右冠状动脉起自左冠状窦者6例,左冠状动脉起自右冠状窦者3例,冠状动脉高位开口者4例,心肌桥-壁冠状动脉15例,副冠状动脉3例,冠状动脉-肺动脉瘘2例,合并两种及两种以上变异者3例。结论 320排动态容积CT冠状动脉成像扫描时间短,辐射剂量低,既能准确评估冠状动脉变异类型,又能清晰显示各类病变细节,较常规冠状动脉造影和普通多排螺旋CT具有明显的优势。     

Variable Genomic Landscapes of Advanced Melanomas with Heavy Pigmentation

BackgroundIn the current study, we examined the real-world prevalence of highly pigmented advanced melanomas (HPMel) and the clinicopathologic, genomic, and ICPI biomarker signatures of this class of tumors.Materials and MethodsOur case archive of clinical melanoma samples for which the ordering physician requested testing for both PD-L1 immunohistochemistry (IHC) and comprehensive genomic profiling (CGP) was screened for HPMel cases, as well as for non-pigmented or lightly pigmented advanced melanoma cases (LPMel).ResultsOf the 1268 consecutive melanoma biopsies in our archive that had been submitted for PD-L1 IHC, 13.0% (165/1268) were HPMel and 87.0% (1103/1268) were LPMel. In the HPMel cohort, we saw a significantly lower tumor mutational burden (TMB, median 8.8 mutations/Mb) than in the LPMel group (11.4 mut/Mb), although there was substantial overlap. In examining characteristic secondary genomic alterations (GA), we found that the frequencies of GA in TERTp, CDKN2A, TP53, and PTEN were significantly lower in the HPMel cases than in LPMel. A higher rate of GA in CTNNB1, APC, PRKAR1A, and KIT was identified in the HPMel cohort compared with LPMel.ConclusionsIn this study, we quantified the failure rates of melanoma samples for PD-L1 testing due to high melanin pigmentation and showed that CGP can be used in these patients to identify biomarkers that can guide treatment decisions for HPMel patients. Using this practical clinical definition for tumor pigmentation, our results indicate that HPMel are frequent at 13% of melanoma samples, and in general appear molecularly less developed, with a lower TMB and less frequent secondary GA of melanoma progression.     

原发性色素沉着性结节性肾上腺皮质病1例报道及文献回顾

目的:分析探索原发性色素沉着性结节性肾上腺皮质病（primary pigmented nodular adrenocortical disease,PPNAD）的临床表现、实验室检查特点、辅助检查特征及诊疗方案。方法:对空军军医大学第一附属医院泌尿外科收治的1例PPNAD患者的临床资料及国内文献所报道的46例患者临床资料进行回顾性分析。46例患者中男性16例,女性30例;其中44例表现为典型库欣综合征体貌,2例仅表现为高血压;伴Carney综合征(Carney complex,CNC)者16例,2例有甲状腺占位;疾病确诊年龄为11~58岁。实验室检查证实患者均具备促肾上腺皮质激素（adrenocorticotropic hormone,ACTH）非依赖性特征,大、小剂量地塞米松抑制试验均不被抑制者45例,1例被抑制,16例患者服用地塞米松后尿游离皮质醇（urinary free cortisol,UFC）升高。影像学完善头部MRI检查者发现垂体占位性病变者2例,无病变者20例,肾上腺CT检查可有双侧肾上腺多发结节或增粗、单侧肾上腺结节或肿物、单侧肾上腺增粗或未见明显变化等表现。治疗方式有腹腔镜下双侧肾上腺全切术、单侧肾上腺肿物切除术及单侧肾上腺全切术。结果:双侧肾上腺切除术联合术后终身激素替代治疗疗效确切,无复发;肾上腺次全切除术和单侧肾上腺切除术后无需激素替代治疗,但存在一定的复发风险。结论:PPNAD临床罕见,确诊主要依据病理检查,对于影像学检查阳性的非依赖性ACTH患者应高度怀疑本病。腹腔镜下双侧肾上腺切除联合术后激素替代治疗是目前治疗PPNAD的合理方案,具体术式应根据患者自身情况拟定。