{"title":"Pulmonary hypertension","authors":"N. Morrell","doi":"10.1093/med/9780198746690.003.0374","DOIUrl":"https://doi.org/10.1093/med/9780198746690.003.0374","url":null,"abstract":"Symptoms of unexplained exertional breathlessness or symptoms out of proportion to coexistent heart or lung disease should alert the clinician to the possibility of pulmonary hypertension, and the condition should be actively sought in patients with known associated conditions, such as scleroderma, hypoxic lung disease, liver disease, or congenital heart disease. Heterozygous germ-line mutations in the gene encoding the bone morphogenetic protein type II receptor (BMPR2) are found in over 70% of families with pulmonary arterial hypertension. Pulmonary hypertension is defined as a mean pulmonary arterial pressure greater than 25 mm Hg at rest, and may be due to increased pulmonary vascular resistance (e.g. pulmonary arterial hypertension), increased transpulmonary blood flow (e.g. congenital heart disease), or increased pulmonary venous pressures (e.g. mitral stenosis). Exercise tolerance and survival in pulmonary hypertension is ultimately related to indices of right heart function, such as cardiac output.","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125360886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Frailty and sarcopenia","authors":"A. Clegg, H. Patel","doi":"10.1093/med/9780198746690.003.0053","DOIUrl":"https://doi.org/10.1093/med/9780198746690.003.0053","url":null,"abstract":"Sarcopenia and frailty are inter-related expressions of ageing which identify people at risk of important adverse health events such as falls, disability, and mortality, and the consequent health and social care needs such as hospitalization or care home admission.\u0000 Sarcopenia is the progressive and generalized loss of skeletal muscle mass and function with age. It has a complex aetiology involving neurohormonal, immunological, and nutritional mechanisms, and is a core component of frailty, which is characterized by reduced biological reserves across a range of physiological systems that increase vulnerability to adverse outcomes following minor stressor events. Detection of frailty should be an essential part of assessment of older people, and the Clinical Frailty Scale is a simple tool based on comprehensive geriatric assessment that enables assignment of a frailty category based on clinical judgement.","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126763845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital abnormalities of the gastrointestinal tract","authors":"H. Uhlig","doi":"10.1093/med/9780198746690.003.0310","DOIUrl":"https://doi.org/10.1093/med/9780198746690.003.0310","url":null,"abstract":"Congenital abnormalities of the gastrointestinal tract can be divided into macroscopic anatomical abnormalities and monogenically determined, high-penetrance functional defects that present either directly postnatally or during the first few months of life. On occasion, symptoms may be delayed for months or years even in patients with substantial anatomical defects. Anatomical and structural abnormalities can affect any part of the gut. These include oesophageal atresia and tracheo-oesophageal fistula, anterior abdominal wall defects, congenital pyloric stenosis, atresia and stenosis of the small intestine, duplication of the gastrointestinal tract, small intestinal malrotation with or without volvulus, small intestinal lymphangiectasia, Meckel’s diverticulum, congenital short intestine syndrome, colonic atresia, Hirschsprung’s disease, and imperforate anus. Meconium ileus is an intestinal obstruction that develops in utero, often associated with subsequent structural abnormalities. The widespread use of ultrasonography allows many abnormalities to be recognized prenatally. Presentation of structural congenital abnormalities of the gastrointestinal tract in adult life is uncommon, but small intestinal lymphangiectasia, Meckel’s diverticulum, or small intestinal obstruction can present beyond childhood. Functional congenital abnormalities include multiple genetic defects that cause congenital diarrhoea due to malabsorption and maldigestion, defects in enterocyte and enterochromaffin cell development, and autoimmune enteropathies. In addition, there is a group of genetic defects that predispose to development of extreme early infantile onset of inflammatory bowel disease. An interdisciplinary approach is required for the optimal management of children with complex congenital abnormalities.","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"92 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123180918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cytokines","authors":"I. McInnes","doi":"10.1093/med/9780198746690.003.0031","DOIUrl":"https://doi.org/10.1093/med/9780198746690.003.0031","url":null,"abstract":"74Cytokines are small glycoprotein mediators that are involved in every facet of immune effector function and regulation, and moreover serve to integrate immune function with other physiologic processes (e.g. metabolism, neurologic function). More than 200 cytokines have been identified. Understanding of the cytokine network has increasing importance in clinical practice with the advent of therapeutic strategies that target particular cytokines with exquisite specificity using biological agents, leading to remarkable advances in the treatment of inflammatory disorders (e.g. anti-TNF therapy in rheumatoid arthritis and anti-IL-17A in psoriasis). The therapeutic potential in their manipulation has not yet been maximized and the future will hold remarkable advances as these molecular networks give up their secrets to provide for highly specific and well-tolerated interventions.","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126429918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Chronic tubulointerstitial nephritis","authors":"M. Broe, P. Haese, M. Elseviers","doi":"10.1093/med/9780199204854.003.210902","DOIUrl":"https://doi.org/10.1093/med/9780199204854.003.210902","url":null,"abstract":"Chronic tubulointerstitial nephritis is usually asymptomatic, presenting with slowly progressive renal impairment. Urinalysis may be normal or show low-grade proteinuria (<1.5 g/day) and/or pyuria. Diagnosis depends on renal biopsy, which reveals variable cellular infiltration of the interstitium, tubular atrophy, and fibrosis. There are many causes including sarcoidosis, drugs (prescribed and nonprescribed), irradiation, toxins, and metabolic disorders. Analgesic nephropathy—characterized by renal papillary necrosis and chronic interstitial nephritis and caused by the prolonged and excessive consumption of combinations of analgesics, mostly including phenacetin. Nonsteroidal anti-inflammatory drugs—the most frequent cause of permanent renal insufficiency after acute interstitial nephritis. Aristolochic acid nephropathy—(1) Chinese herb nephropathy—caused in most cases (but perhaps not all) by aristolochic acid, and is associated with a high incidence of urothelial malignancy. (2) Balkan endemic nephropathy—a chronic, familial, noninflammatory tubulointerstitial disease of the kidneys that is associated with a high frequency of urothelial atypia, occasionally culminating in tumours of the renal pelvis and urethra. 5-Aminosalicylic acid—used in the treatment of chronic inflammatory bowel disease and causes clinical nephrotoxicity in approximately 1 in 4000 patients/year. Chronic interstitial nephritis in agricultural communities (CINAC) —nonproteinuric chronic kidney disease that presents in young, agricultural workers in Central America and Sri Lanka in the absence of any clear aetiology. Lithium—the most common renal side effect is to cause nephrogenic diabetes insipidus. Radiation nephropathy—preventive shielding of the kidneys in patients receiving radiation therapy generally prevents radiation nephropathy, but total body irradiation preceding bone marrow transplantation leads 20% to develop chronic renal failure in the long term. Nephropathies induced by toxins (including lead and cadmium) or by metabolic disorders (chronic hypokalaemia and chronic urate nephropathy).","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121620910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Muscular dystrophy","authors":"K. Bushby, C. Marini‐Bettolo","doi":"10.1093/med/9780198746690.003.0609","DOIUrl":"https://doi.org/10.1093/med/9780198746690.003.0609","url":null,"abstract":"Muscular dystrophy is not a single disease. Many different types of muscular dystrophy can be recognized: all are primary, genetically determined disorders of muscle and all cause muscle weakness and wasting, which is usually progressive. Muscular dystrophies are primary, genetically determined disorders of muscle. All cause muscle weakness, which is usually progressive. They are challenging to classify, but clinical characteristics can be combined with genetic and molecular information to obtain a useful operational nomenclature for prognosis and family counselling. In general, diagnosis is guided by the age at which clinical manifestations appear, the distribution of weakness, and the rate at which muscle function is lost, but unusual features such as muscle pain and rhabdomyolysis may also contribute to the identification of a particular hereditary muscle disorder.","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126365704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Poxviruses","authors":"Geoffrey L. Smith","doi":"10.1093/med/9780198746690.003.0079","DOIUrl":"https://doi.org/10.1093/med/9780198746690.003.0079","url":null,"abstract":"Poxviruses are large, complex DNA viruses that have played several seminal roles in medicine and biological science. Cowpox virus was introduced by Jenner as the first human vaccine in 1796; widespread vaccination with vaccinia virus led to the global eradication of smallpox in 1977, the only human disease to have been eradicated. Smallpox is caused by variola virus, the most infamous poxvirus. Other poxviruses include molluscum contagiosum, which is the only other poxvirus that infects only humans, causing benign skin tumours that may be single or multiple, typically persisting for months before undergoing spontaneous regression. The development of vaccinia virus as an expression vector pioneered the concept of using genetically engineered viruses as live vaccines. Vaccinia virus is also being developed as an oncolytic agent. Poxviruses remain excellent models for studying virus-host interactions and virus immune evasion strategies.","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126621795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Personality disorders","authors":"Iain Jordan","doi":"10.1093/med/9780198746690.003.0639","DOIUrl":"https://doi.org/10.1093/med/9780198746690.003.0639","url":null,"abstract":"People have characteristic ways of perceiving, thinking about, and responding to the world around them that are relatively stable over time and across situations; this is referred to as their personality. A diagnosis of personality disorder is made when the personality is extreme and maladaptive and causes difficulty or distress to the person themselves or to others. People with personality disorders are often encountered in medical settings, which may be because they have self-harmed, suffered problems from drug or alcohol use, or been injured because of unwise behaviour. Personality disorders also complicate the medical management of medical conditions, for example, by non-adherence to recommended treatment. The effective short-term management of personality disorders in medical settings requires: (a) recognition of the diagnosis; (b) creation of a management plan; and (c) consistent response to the problematic behaviours adhered to by all relevant staff.","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121043482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Alphaviruses","authors":"A. Powers, E. Ooi, L. R. Petersen, D. Gubler","doi":"10.1093/med/9780198746690.003.0087","DOIUrl":"https://doi.org/10.1093/med/9780198746690.003.0087","url":null,"abstract":"There are 31 registered alphaviruses belonging to the family Togaviridae, 16 of which are known to cause human infection. They are RNA viruses with global geographical distribution and complex transmission cycles, usually between wild or domestic animals and one or more mosquito species; humans are infected by mosquito bites and are often incidental hosts that do not contribute to the maintenance of the virus. They cause a spectrum of clinical manifestations ranging from non-specific febrile illness to chronic arthralgia to acute encephalitis and death. Diagnosis of infection is made by several methods including serologically by detection of IgM and/or IgG antibodies, virus isolation, molecularly using reverse transcription–polymerase chain reaction, or by immunohistochemistry on tissue samples.","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121064569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cutaneous vasculitis, connective tissue diseases, and urticaria","authors":"V. Shpadaruk, K. Harman","doi":"10.1093/med/9780198746690.003.0556","DOIUrl":"https://doi.org/10.1093/med/9780198746690.003.0556","url":null,"abstract":"Vasculitis (angiitis) denotes necrotizing inflammation of the blood vessels; occlusive vasculopathy implies vascular occlusion without significant vascular inflammation. A small-vessel cutaneous vasculitis is the most common vasculitis affecting the skin, and may be the first sign of a systemic vasculitis, but 50% of patients have no systemic disease. Systemic lupus erythematosus is diagnosed if four or more of the American College of Rheumatology revised criteria for the classification of this disease are present, either sequentially or simultaneously. Meanwhile, dermatomyositis is an uncommon multisystem autoimmune disease in which inflammatory skin changes are associated with polymyositis of skeletal muscle. Scleroderma means thickened, fibrotic, bound-down skin. It might develop in association with a systemic connective tissue disease (systemic sclerosis) or present as a localized cutaneous problem. Panniculitis is inflammation of the subcutaneous fat, sometimes associated with vasculitis. It presents with erythematous subcutaneous nodules, most often on the lower leg.","PeriodicalId":347739,"journal":{"name":"Oxford Textbook of Medicine","volume":"141 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115307867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
求助内容：
应助结果提醒方式：