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Neural Regeneration Research 2025年第7期20卷 2011-2012页

作者： Sharon J.Brown Rafael J.Yáñez-Muñoz Heidi R.Fuller School of Pharmacy and Bioengineering Keele UniversityKeeleUK Wolfson Center for Inherited Neuromuscular Disease TORCH BuildingRJAH Orthopaedic HospitalOswestryUK *** Center of Gene and Cell TherapyDepartment of Biological SciencesSchool of Life Sciences and the EnvironmentRoyal Holloway University of LondonEghamUK

Spinal muscular atrophy(SMA)is a genetic condition that results in selective lower motor neuron loss with concomitant muscle weakness and *** genetic cause of SMA was understood in 1995 when loss or impairment of the survival motor neuron 1(SMN1)gene was identified as the main contributing factor(Lefebvre et al.,1995).This,in combination with the discovery that humans have a“back-up”gene,SMN2,which can produce low levels(approximately 10%)of the full-length functional SMN protein,has led to the generation of SMA-specific gene *** was traditionally classified according to age of symptom onset and developmental milestones achieved,with life expectancy and severity varying between ***,SMN2 copy number is used as a proxy for the prediction of disease severity,with higher SMN2 copy number typically being associated with reduced severity of SMA,although this relationship is not absolute:some individuals with low SMN2 copy number have less severe SMA phenotypes and vice ***,the etiology of SMA is further complicated by other factors,such as non-typical nucleotide variants and SMN2-independent modifiers of disease severity.

关键词： atrophy traditionally absolute

Evolution of techniques in robotic kidney transplantation with perspectives on future developments

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Laparoscopic, Endoscopic and Robotic Surgery 2021年第1期4卷 3-8页

作者： Thomas Fonseka Urology Royal Derby HospitalUniversity Hospitals of Derby and Burton Foundation TrustDerbyUK

Robotic kidney transplantation(RKT)has brought the benefits of minimally invasive surgery to the field of renal *** across the globe have varied and there is a need for standardization within evidence-based frameworks in order to justify its widespread utilization and ensure safe and effective innovation.A comprehensive literature review was conducted to identify studies reporting on techniques used in RKT between 2010 and *** abstracts,published papers and the latest guidelines were reviewed in this rapidly progressing *** results have been demonstrated so far with unique benefits identified for obese patients who would have otherwise been denied an open kidney *** developments have been found in gasless surgery,scarless surgery,RKT using grafts with multiple vessels and robotic dual kidney *** order to continue advancing innovation in kidney transplant surgery,further expansion of RKT is needed to deceased donor *** in the robotic technology itself will also improve technique,and as the financial costs of the technology decrease the use of RKT is set to grow.

关键词： Minimally invasive surgery Transplantation surgery Robotic urology IDEAL framework

Primary hepatic solitary fibrous tumor with histologically benign and malignant areas

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Hepatobiliary & Pancreatic Diseases International 2015年第6期14卷 665-668页

作者： Anna Silvanto Nariman D Karanjia Izhar N Bagwan Departments of Histopathology Royal Surrey County Hospital General Sugery Royal Surrey County Hospital

Extrapleural solitary fibrous tumor （SFT） is an uncommon mesenchymal neoplasm, presenting most commonly in the intrathoracic sites but which has been reported at nu- merous extrathoracic locations. The majority of intra-thoracic SFTs are benign, but 10%-15% behave aggressively. We report a case of primary hepatic SFT with histologically benign and ma- lignant areas. A 65-year-old man underwent an abdominal CT scan following a cerebrovascular accident, which demonstrated a sharply demarcated large liver mass with a heterogenous enhancing area and occupying most of the left lobe of the liver. Histological examination following a hemihepatectomy showed an SFT with morphological patterns ranging from benign to malignant areas, including pleomorphism, increased cellularity, herringbone pattern, necrosis and a raised mitotic count. On review of the literature, only an occasional case report with malignant areas in a hepatic SFT was identified. This case highlights that SFT should be included in the differential diagnosis of a hepatic spindle cell lesion, and that on rare occasions, malignant areas can occur in this already uncommon neoplasm.

关键词： liver tumors malignant (non-HCC) liver surgery pathological changes

Can patients determine the level of their dysphagia?

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World Journal of Gastroenterology 2017年第6期23卷 1038-1043页

作者： Hafiz Hamad Ashraf Joanne Palmer Harry Richard Dalton Carolyn Waters Thomas Luff Madeline Strugnell Iain Alexander Murray Departments of Gastroenterology Royal Cornwall Hospital NHS Trust Research and Development Royal Cornwall Hospital NHS Trust Clinical Imaging Royal Cornwall Hospital NHS Trust

To determine if patients can localise dysphagia level determined endoscopically or radiologically and association of gender, age, level and *** review of consecutive patients presenting to dysphagia hotline between March 2004 and March 2015 was carried out. Demographics, clinical history and investigation findings were recorded including patient perception of obstruction level (pharyngeal, mid sternal or low sternal) was documented and the actual level of obstruction found on endoscopic or radiological examination (if any) was noted. All patients with evidence of obstruction including oesophageal carcinoma, peptic stricture, Schatzki ring, oesophageal pouch and cricopharyngeal hypertrophy were included in the study who had given a perceived level of dysphagia. The upper GI endoscopy reports (barium study where upper GI endoscopy was not performed) were reviewed to confirm the distance of obstructing lesion from central incisors. A previously described anatomical classification of oesophagus was used to define the level of obstruction to be upper, middle or lower oesophagus and this was compared with patient perceived *** thousand six hundred and sixty-eight patients were included, 42.0% of who were female, mean age 70.7 ± 12.8 years old. Of those with obstructing lesions, 726 gave a perceived level of dysphagia: 37.2% had oesophageal cancer, 36.0% peptic stricture, 13.1% pharyngeal pouches, 10.3% Schatzki rings and 3.3% achalasia. Twenty-seven point five percent of patients reported pharyngeal level (upper) dysphagia, 36.9% mid sternal dysphagia and 25.9% lower sternal dysphagia (9.5% reported multiple levels). The level of obstructing lesion seen on diagnostic testing was upper (17.2%), mid (19.4%) or lower (62.9%) or combined (0.3%). When patients localised their level of dysphagia to a single level, the kappa statistic was 0.245 (P < 0.001), indicating fair agreement. 48% of patients reporting a single level of dysphagia

关键词： Deglutition disorders Oesophageal stenosis Oesophageal neoplasm Gastroscopy Fluoroscopy Patient perception Pharyngeal pouch

Phenotyping emphysema and airways disease: Clinical value of quantitative radiological techniques

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World Journal of Respirology 2017年第1期7卷 1-16页

作者： Diana Crossley Alice Turner Deepak Subramanian Centre for Translational Inflam-mation Research Queen Elizabeth Hospital Birmingham royal derby hospital

The pathophysiology of chronic obstructive pulmonary disease(COPD) and Alpha one antitrypsin deficiency is increasingly recognised as complex such that lung function alone is insufficient for early detection, clinical categorisation and dictating management. Quantitative imaging techniques can detect disease earlier and more accurately, and provide an objective tool to help phenotype patients into predominant airways disease or emphysema. Computed tomography provides detailed information relating to structural and anatomical changes seen in COPD, and magnetic resonance imaging/nuclear imaging gives functional and regional information with regards to ventilation and perfusion. It is likely imaging will become part of routine clinical practice, and an understanding of the implications of the data is essential. This review discusses technical and clinical aspects of quantitative imaging in obstructive airways disease.

关键词： Chronic obstructive pulmonary disease Alpha one antitrypsin deficiency Computed tomography Densitometry Phenotype Spirometry Magnetic resonance imaging

Night blindness due to vitamin A deficiency associated with resected adenocarcinoma of the pancreas

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International Journal of Ophthalmology(English edition) 2015年第1期8卷 206-207页

作者： Andreas Kontos Hamzeh Kayhanian Fatima El-Khouly Roopinder Gillmore Department of Ophthalmology Royal Free Hospital Department of Oncology Royal Free Hospital

Dear Sir,W e write to present a rare case of night blindness caused by vitamin A deficiency secondary to resected adenocarcinoma of the *** our knowledge this is the first reported case of this association.A 62 year-o... 详细信息

关键词： ERG Night blindness due to vitamin A deficiency associated with resected adenocarcinoma of the pancreas

Colonic gallstones:a case report

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Hepatobiliary & Pancreatic Diseases International 2007年第3期6卷 324-325页

作者： Zakir K Mohamed Shlok Balupuri Leslie H Boobis Sunderland royal hospital SunderlandUK

BACKGROUND:Colonic gallstone is an uncommon entity with high morbidity and mortality due to various reasons. It remains a diagnostic challenge because of delayed and non-specific presentations,especially in the elderly population,often with multiple co-morbidities. METHOD:We present a case of 81-year-old woman who had a large bowel obstruction due to colonic gallstone. RESULTS:Immediately after a cholecysto-colonic fistula was found by laporotomy,she underwent a single stage enterolithotomy,cholecystectomy and fistula closure. CONCLUSIONS:A single stage enterolithotomy,cholecys- tectomy and fistula closure is ideal for this condition. Various other surgical options in the literature are discussed.

关键词： large bowel obstruction gallstone ileus colonic gallstone

Perforated jejunal ulcer associated with gastric mucosa in a jejunal diverticulum

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World Journal of Clinical Cases 2014年第6期2卷 209-210页

作者： John Bunni Helen L Barrett Tim A Cook Department of Surgery Gloucester-shire Royal Hospital Department of Pathology Gloucestershire Royal Hospital

Jejunal diverticula are rare and subsequent complications even more so. The usual small bowel diverticulum encountered by general surgeons is a Meckel's. These are embryological remnants of the vitello-intestinal duct and are on the anti-mesenteric surface of the terminal ileum. They may contain heterotopic gastric or pancreatic mucosa. Herein we explore the case of a young girl who presented with features of peritonitis secondary to a complication from a jejunal diverticulum. The case, pathology, complications and treatment of jejunal diverticulosis and heterotopic gastric mucosa in the jejunum are explored.

关键词： Jejunum Perforation Heterotopic gastric mucosa Meckel’s gastrointestinal diverticulum

Current protective strategies in liver surgery

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World Journal of Gastroenterology 2010年第48期16卷 6098-6103页

作者： Kurinchi S Gurusamy Hector D Gonzalez Brian R Davidson HPB and Liver Transplantation Royal Free CampusUniversity College London Medical SchoolRoyal Free Hospital

During liver resection surgery for cancer or liver transplantation,the liver is subject to ischaemia (reduction in blood flow) followed by reperfusion (restoration of blood flow),which results in liver injury [ischemiareperfusion (IR) or IR injury]. Modulation of IR injury can be achieved in various ways. These include hypothermia,ischaemic preconditioning (IPC) (brief cycles of ischaemia followed by reperfusion of the organ before the prolonged period of ischaemia i.e. a conditioning response),ischaemic postconditioning (conditioning after the prolonged period of ischaemia but before the reperfusion),pharmacological agents to decrease IR injury,genetic modulation of IR injury,and machine perfusion (pulsatile perfusion). Hypothermia decreases the metabolic functions and the oxygen consumption of organs. Static cold storage in University of Wisconsin solution reduces IR injury and has prolonged organ storage and improved the function of transplanted grafts. There is currently no evidence for any clinical advantage in the use of alternate solutions for static cold storage. Although experimental data from animal models suggest that IPC,ischaemic postconditioning,various pharma-cological agents,gene therapy,and machine perfusion decrease IR injury,none of these interventions can be recommended in clinical practice. This is because of the lack of randomized controlled trials assessing the safety and efficacy of ischaemic postconditioning,gene therapy,and machine perfusion. Randomized controlled trials and systematic reviews of randomized controlled trials assessing the safety and efficacy of IPC and various pharmacological agents have demonstrated biochemical or histological improvements but this has not translated to clinical benefit. Further well designed randomized controlled trials are necessary to assess the various new protective strategies in liver resection.

关键词： Liver Hepatectomy Liver transplantation Ischemia-reperfusion injury Hypothermia Ischaemic preconditioning

Male fertility following childhood cancer: current conceptsand future therapies

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Asian Journal of Andrology 2003年第4期5卷 325-337页

作者： Mark F. H. Brougham Christopher J. H.Kelnar Richard M.Sharpe W.Hamish B.Wallace royal hospital for Sick Children Edinburgh United KingdomRoyal Hospital for Sick Children Edinburgh United KingdomMRC Human Reproductive Sciences Unit Centre for Reproductive Biology University of Edinburgh United KingdomRoyal Hospital for Sick Children Edinburgh United Kingdom

Prepubertal boys treated for cancer may exhibit impaired fertility in later life. A number of chemotherapeu tic agents have been identified as being gonadotoxic, and certain treatment regimens, such as that used for Hodgkin's disease, are particularly associated with subsequent infertility. Radiotherapy may also cause gonadal damage, most notably following direct testicular irradiation or total body irradiation. Because of the varied nature of the cytotoxic insult, it can be difficult to predict the likelihood of infertility in later life. Currently it is not possible to detect gonadal damage early due to the lack of a sensitive marker of gonadal function in the prepubertal age *** cryopreservation is currently the only method of preserving fertility in patients receiving gonadotoxic therapy. This is only applicable to postpubertal patients and can be problematic in the adolescent age group. At present there is no provision for the prepubertal boy, although there are a number of experimental methods currently being investigated. By harvesting testicular tissue prior to gonadotoxic therapy, restoration of fertility could be achieved following treatment, either by germ cell transplantation or by in vitro maturation of the germ cells harvested. Alternatively, rendering the testes quiescent during cytotoxic treatment may protect the germ cells from subsequent damage. In addition to the many scientific and technical issues to be overcome prior to clinical application of these techniques, a number of ethical and legal issues must also be addressed to ensure a safe and realistic prospect for future fertility in these patients.

关键词： infertility childhood cancer semen cryopreservation germ cell transplantation In vitro germ cell maturation assisted reproductive techniques