Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

104 patients with progressive forms of funnel chest deformity of the II-III degree with Ehlers-Danlos-Marfan syndrome, Marfan-like phenotype, isolated funnel chest deformity and unclassified funnel chest deformity of the first degree were subjected to synromologic examination. There were detected 10 dysplastic signs, indicating funnel chest deformity progression: anti-Mongol shape of the eyes, arachnodactyly, high palate, Ehlers-Danlos syndrome, floor of the auricle's dysplasia, dolichostenomely, posture disturbance, mitral valve prolapse, umbilical hernia, wide filter. The results of biochemical examination of collagen metabolite--hydroxyproline++ (the first and the second hydroxyproline++ fraction ratio disturbance, decrease of the first hydroxyproline++ fraction percentage, disturbance of direct correlation between total hydroxyproline++ and percentage of the first hydroxyproline++ fraction)--corroborated the clinical data.
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PMID:[Early diagnosis of progression of funnel chest in children]. 209 88

Pain dominates the lives of many patients with hyperlaxity syndromes, most commonly the Benign Joint Hypermobility Syndrome (BJHS/EDS). As a result they may experience psychosocial problems, which in many cases severely affects their healthy functioning. Above all is the overriding chronic pain in joints, muscles and ligaments, which arises from an inherent predisposition to the effects of everyday trauma, but other factors such as associated osteoarthritis or fibromyalgia are also important. There may also be neurophysiological factors at play producing nociceptive enhancement. Pain and distress of visceral origin can result from laxity of connective tissue within or providing support for the abdominal, thoracic or pelvic viscera leading to hernia, uterine and/or rectal prolapse, mitral valve prolapse or spontaneous pneumothorax. In children joint hyperlaxity is an important (and often unrecognised) source of rheumatic symptoms, which may be ignored or erroneously ascribed to juvenile idiopathic arthritis. The management of pain and distress in the hyperlaxity syndromes requires skill, patience, compassion and understanding. Often the results of conventional anti-rheumatic therapy (including anti-rheumatic drugs and surgery) as applied to other rheumatic diseases are disappointing and innovative approaches are required. Amongst these, for which evidence of efficacy is available, are physiotherapeutic and orthotic stabilisation of hyperlax joints, proprioceptive enhancement and the newer pain management techniques including cognitive behavioural therapy.
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PMID:Pain, distress and joint hyperlaxity. 1087 11

A patient with Shprintzen-Goldberg syndrome was followed up for 24 years. The patient's parents were unrelated and unaffected. Walking and speech were delayed. Facial dysmorphism was obvious as well as pectus excavatum, scoliosis, bilateral dislocation of the radial heads, hammer toes and hallux valgus, pes planus, arachnodactyly, and camptodactyly. Skin was thin and fragile. CT scan showed ventricular enlargement. He had a mitral valve prolapse. He was operated on twice for bilateral inguinal and crural hernia and several times for his foot deformities. Puberty was delayed until 18 years. At 24 years of age he was still thin, dolichocephalic, and the facial dysmorphic features were still obvious. Pectus excavatum was still severe but the thoracolumbar scoliosis was mild. His foot deformities had improved and his joints were less hypermobile. Psychomotor development was quite normal. His main concern was the minimal subcutaneous fat and fragility of skin. Echocardiography was now normal.
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PMID:Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years. 1182 98

A 59-year-old female patient with mitral valve prolapse and a previous history of lumbosacral spondyloarthrosis and lumbar disk hernia had an episode of infective endocarditis due to Streptococcus viridans, which evolved with peripheral embolism to the left kidney, spleen, and left iliac artery, and intraventricular cerebral hemorrhage. Her clinical manifestations were low back pain and hematuria, which were initially attributed to an osteoarticular condition. Infective endocarditis is a severe polymorphic disease with multiple clinical manifestations and it should always be included in the differential diagnosis by clinicians.
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PMID:Multiple embolism in a female patient with infective endocarditis. Low back pain and hematuria as the initial clinical manifestations. 1218 59

The primary joint hypermobility syndrome (pJH) is an overlap disorder of connective-tissue dysplasias, which incorporates features seen in the Marfan syndromes (MFS), Ehlers-Danlos syndromes (EDS), and osteogenesis imperfecta. Patients with pJH usually present arthralgia, back pain, soft-tissue lesions, recurrent joint dislocation, or subluxation. Extraarticular features may include, e. g., striae cutis, keratoconus, easy bruising, mitral valve prolapse, aortic incompetence, aneurysms, pneumothorax, hernia, urinary incontinence, and pelvic floor prolapse. Due to the high frequency of critical dissection and rupture, the early recognition of rare life-threatening complications such as dilatation of the aortic root and aneurysms is important. Therefore, patients (and their family members) with pJH should also be examined for life-threatening features seen in MFS and EDS.
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PMID:[Concomitant diseases in primary joint hypermobility syndrome]. 1549 74

Although asymptomatic in most patients, extrarenal manifestations of ADPKD may become more clinically relevant with the increasing life expectancy of affected patients. They mainly encompass cysts in other organs than the kidney (liver: 94%, seminal vesicle: 40%, pancreas: 9%, arachnoid membrane: 8%, and spinal meningeal, 2%) and connective tissue abnormalities (mitral valve prolapse: 25%, intracranial aneurysms: 8%, and abdominal hernia: 10%). Their recognition may spare the patient from other, useless investigations (eg, when an arachnoid cyst is incidentally found) or lead to the implementation of prophylactic or therapeutic measures (eg, screening, sometimes followed by the treatment of an asymptomatic intracranial aneurysm in at-risk patients, or, in the presence of a severe polycystic liver disease, avoidance from estrogens and treatment aimed to slow cyst growth).
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PMID:Extrarenal manifestations of autosomal dominant polycystic kidney disease. 2021 20

The examination results of 78 patients with recurrent inguinal hernia revealed presence of systemic connective tissue abnormalities in addition to dysplasia of posterior wall of inguinal canal in 48 (61.6%) patients. Hernial disease was observed in 37 (47.4%) patients including umbilical hernia in 12 cases, femoral hernia in 8 patients, hiatal hernia in 3 patients and bilateral inguinal hernia in 14 cases. Group of other diseases included varicose veins of lower limbs in 15 (19.2%) patients, mitral valve prolapse in 3 (3.8%) patients, violation of skin elasticity (striae) in 6 (7.7%) cases, diverticulum of bladder in 2 (2.6%) patients, diverticulum of esophagus in 1 (1.3%) patient, diverticulosis of small intestine in 2 (2.6%) cases. Our data prove that inguinal hernia is local manifestation of systemic disease.
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PMID:[Connective tissue dysplasia as a reason of recurrent inguinal hernia]. 2532 48

Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive- and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction.Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.
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PMID:Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease. 3182 51