Phylogenetic relationships of a class of hominoid-specific retro-elements (SINE-R) on human chromosomes 7 and 17

SINE-R elements are a class of retroposon derived from the human endogenous retrovirus HERV-K that has been active in hominoid evolution and may include some members that are Homo sapiens specific. Both SINE-R elements and the HERV-K class of element have potential relevance to recent genome change. Here we report on sequences in the SINE-R class that can be detected on human chromosomes 7 and 17 and compare them with sequences that we have previously reported on the X chromosome and in hominoid primates. The retroposons on chromosomes 7 and 17 showed a high degree of sequence homology (88-96%) with other human retroposons (SINE-R.C2, 11, 14, 19, and HS307/ HS408). Phylogenetic analysis using the neighbour-joining method revealed that SINE-R-type retroposons on chromosomes 7 and 17 were inter-related with those of hominoid primates, suggesting that various sub-classes of these retroposons have been evolving independently during hominoid evolution. One element (17-11) on chromosome 17 shares one hundred per cent identity with a 7-11 element on chromosome 7 which suggests either recent transposition or a chromosomal translocation. Thus further investigation of the chromosomal locations of SINE-R elements that together with the HERV-K LTR sequence from which they are derived have the capacity to influence the function of neighbouring cellular genes may be expected to clarify the potential role of these elements in recent hominoid evolution.

SINE-R Elemente sind eine Klasse von Retroposons, die sich vom endogenen Retrovirus HERV-K ableiten, das wahrend der Evolution der Hominiden aktiv war und einige Vertreter umfassen konnte, die spezifisch sind fur Homo sapiens. Sowohl die SINE-R Elemente als auch die HERV-K Klasse von Elementen hat eine potentielle Bedeutung im Hinblick auf rezente Veranderungen des Genoms. In dieser Arbeit wird uber Sequenzen der SINE-R Klasse berichtet, die auf den Chromosomen 7 und 17 des menschlichen Genoms entdeckt worden sind. Sie werden mit entsprechenden Sequenzen des X-Chromosoms sowie von non-humanen Primaten verglichen, uber die zuvor berichtet wurde. Die Retroposons auf den Chromosomen 7 und 17 weisen ein hohes Ausmass an Sequenzhomologie (88-96%) mit anderen Retroposons auf (SINE-R.C2, 11, 14, 19 und HS307/HS408). Eine phylogenetische Analyse mit der Neighbor-Joining-Methode zeigte, dass die Retroposons vom Typ SINE-R der Chromosomen 7 und 17 mit denen von non-humanen Primaten in Zusammenhang stehen, was nahelegt, dass sich im Verlauf der menschlichen Evolution verschiedene Subklassen dieser Retroposons unabhangig voneinander entwickelt haben. Ein Element auf Chromosom 17 (17-11) weist eine 100%ige Ubereinstimmung mit einem 7-11 Element auf Chromsom 7 auf, was entweder fur eine rezente Transposition oder eine chromosomale Translokation hinweist. Es kann erwartet werden, dass weitere Untersuchungen zur chromosomalen Lokalisation von SINE-R Elementen, die zusammen mit der HERV-K LTR Sequenz, von der sie abstammen, die Kapazitat zur Beeinflussung der Funktion benachbarter zellularer Gene haben, zur Klarung der potentiellen Bedeutung dieser Elemente fur die rezente Hominidenevolution beitragen konnen.

Les elements SINE-R sont une classe de retroposons derives du retrovirus endogene HERV-K qui a ete actif au cours de l'evolution des Hominides et qui peut comprendre quelques formes specifiques de l'Homo sapiens. Aussi bien les elements SINE-R que HERV-K ont potentiellement rapport avec le changement recent du genome. Ici, nous decrivons des sequences de la classe SINE-R qui peuvent etre detectees sur les chromosomes humains 7 et 17 et on les compare avec des sequences que nous avons precedemment decrites sur le chromosome X et chez les primates anthropomorphes. Les retroposons des chromosomes 7 et 17 presentent une forte homologie sequentielle (88-96%) avec d'autres retroposons humains (SINE-R.C2,11,14,19 et HS307/HS408). Une analyse phylogenetique utilisant la methode de recherche du voisin a revele que les retroposons de type SINE-R sur les chromosomes 7 et 17 sont relies a ceux des primates anthropomorphes, suggerant ainsi que diverses sous-classes de ces retroposons ont evolue de maniere independante au cours de l'evolution humaine. Un element (17-11) du chromosome 17 partage une identite a 100% avec un element 7-11 du chromosome 7, ce qui suggere soit une transposition recente, soit une translocation chromosomique. On peut attendre des futures recherches sur les emplacements chromosomiques des elements SINE-R, qui avec la sequence HERV-K LTR dont ils sont derives ont la capacite d'influencer la fonction des genes cellulaires proches, qu'elles eclaircissent le role de ces elements au cours de l'evolution humaine recente.     

腹腔镜手术治疗妇产科疾病临床观察

目的 通过分析腹腔镜手术在治疗妇产科疾病中的临床应用,探讨手术治疗效果.方法 对本院行腹腔镜手术治疗疾病的121例妇科患者临床资料进行回顾性分析.结果 腹腔镜手术在妇产科中疾病的治疗中应用广泛,患者术后恢复比较快,同时疼痛创伤比较小,操作过程简单易行.结论 行腹腔镜手术治疗妇产科疾病效果显著,能够减轻病人的痛苦,有出血少、恢复快、简便易行等优点,是妇产科手术的首选.     

温胆汤化裁治疗心系疾病的临床研究概况

本文综述了近年来临床应用温胆汤化裁治疗冠心病、心律失常、高血压病、病毒性心肌炎、心脏神经官能症、高脂血症等心系疾病的概况.凡符合胆胃不和、痰热内扰的病机,不论病种,皆可在临床各科使用温胆汤.本文同时还提出了目前温胆汤治疗心系疾病的临床研究中所存在的诸多问题,如临床研究设计不完善、综合疗效判定标准不统一、随症加减方案不统一、治疗机理不明确、剂型单一等问题.     

浅谈各种杂症致因在郁

临床各种疑难杂症,病机复杂,作者从临床接触各种病种分析,致因从郁论之。     

Update: medical treatment of onychomycosis

The diagnosis of onychomycosis should be made clinically and mycologically: clinically, by one of seven subtypes of onychomycosis, and mycologically, by evidence of dermatophytes or verified presence of molds and/or yeasts. Dermatophytes are usually considered as pathogens, whereas non‐dermatophyte molds and yeasts are saprophytes. Basic anamnesis and close inspection should be performed to eliminate combined diseases (e.g., onychomycosis and trauma). The gold standard treatment for onychomycosis is basically systemic. Combination with topical agents, such as nail lacquer and/or chemical nail avulsion, produces better results than systemic treatment alone. Topical treatment as monotherapy is not efficient, excluding minor cases. Terbinafine is superior to itraconazole for dermatophyte onychomycosis. Evaluation of the outcome of clinical cure, mycological cure and total cure should be based on the well‐defined worldwide criteria; otherwise, comparison of results is impossible due to lack of uniformity in different studies. In case of treatment failure, the reasons for each failure should be carefully considered.     

Breast implant-associated ALK-negative anaplastic large cell lymphoma: a case report and discussion of possible pathogenesis

Breast implant associated anaplastic large cell lymphoma (BIA-ALCL) is a recently recognized clinical entity, with only 39 well-documented cases reported worldwide, including 3 fatalities. Because of its rarity, the clinical and pathologic features of this malignancy have yet to be fully defined. Moreover, the pathogenesis of ALCL in association with textured silicone gel breast implants is poorly understood. Here we report a case of BIA-ALCL arising in a 67-year-old woman with a mastectomy due to breast cancer followed by implantation of textured silicone gel breast prosthesis. The patient presented with breast enlargement and tenderness 8 years following reconstructive surgery. MRI revealed a fluid collection surrounding the affected breast implant. Pathologic examination confirmed the presence of malignant ALCL T cells that were CD30+, CD8+, CD15+, HLA-DR+, CD25+ ALK- and p53. A diagnosis of indolent BIA-ALCL was made since tumor cells were not found outside of the capsule. Interestingly, an extensive mixed lymphocytic infiltrate and ectopic lymphoid tissue (lymphoid neogenesis) adjacent to the fibrous implant capsule were present. The patient was treated with capsulectomy and implantation of new breast prostheses. Six months later, the patient was found to have BIA-ALCL involvement of an axillary lymph node with cytogenetic evolutionof the tumor. To our knowledge, this is the sixth reported case of aggressive BIA-ALCL. Unique features of this case include the association with lymphoid neogenesis and the in vivo cytogenetic progression of the tumor. This case provides insight into the potential role of chronic inflammation and genetic instability in the pathogenesis of BIA-ALCL.     

Colorectal smartphone apps: opportunities and risks

Aim The increased utilization of smartphones within the clinical environment together with connected applications (apps) provides opportunity for doctors, including coloproctologists, to integrate such technology into clinical practice. However, the reliability of unregulated medical apps has recently been called into question. Here, we review contemporary medical apps specifically themed towards colorectal diseases and assess levels of medical professional involvement in their design and content. Method The most popular smartphone app stores (iPhone, Android, Blackberry, Nokia, Windows and Samsung) were searched for colorectal disease themed apps, using the disease terms colorectal cancer, Crohn’s disease, ulcerative colitis, diverticulitis, haemorrhoids, anal fissure, bowel incontinence and irritable bowel syndrome. Results A total of 68 individual colorectal themed apps were identified, amongst which there were five duplicates. Only 29% of colorectal apps had had customer satisfaction ratings and 32% had named medical professional involvement in their development or content. Conclusion The benefits of apps are offset by lack of colorectal specification. There is little medical professional involvement in their design. Increased regulation is required to improve accountability of app content.     

Genomic Analysis Reveals Distinct Subtypes in Two Rare Cases of Primary Ovarian Lymphoma

Primary (localized) non-Hodgkin lymphoma (NHL) of the ovary is extremely rare; only a few cases have been reported in the literature. We report two cases of primary ovarian lymphoma (POL), one involving bilateral ovaries in a 15-year-old girl and other involving one ovary in a 5-year-old girl. This report describes detailed clinical, histopathological, and imaging findings, along with the review of literature of primary diffuse large B-cell lymphoma (DLBCL) arising from an ovary. In addition, we describe findings of targeted capture panel sequencing on both tumors and identify the major genetic mutations that are recurrently mutated in pan-cancers. Compared to the genomic mutation features of major subtypes of DLBCL, we distinguish that each POL belongs to distinctive subtypes, GCB (germinal center B-cell subtype) DLBCL and ABC (activated B-cell subtype) DLBCL, respectively. The findings from the genomic analysis may help to understand the pathogenesis of POL and to guide potential targeted therapy in the future.     

Percutaneous endoscopic cecostomy (introducer method) in chronic intestinal pseudo‐obstruction: Report of two cases and literature review

We report on two patients with recurrent episodes of chronic intestinal pseudo‐obstruction (CIPO). A 50‐year‐old woman with severe multiple sclerosis and an 84‐year‐old man with Parkinson's disease and dementia had multiple hospital admissions because of pain and distended abdomen. Radiographic and endoscopic findings showed massive dilation of the colon without any evidence of obstruction. Conservative management resolved symptoms only for a short period of time. As these patients were poor candidates for any surgical treatment we carried out percutaneous endoscopic colostomy by placing a 20‐Fr tube in the cecum with the introducer method. The procedure led to durable symptom relief without complications. We present these two cases and give a review through the existing literature of the procedure in CIPO.