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)

We have presented the case of an elderly woman with severe kyphoscoliosis, osteoarthritis and left knee effusion who had symptoms and signs of intermittent intestinal obstruction. Operation showed a left-sided obturator hernia. In any elderly, debilitated, chronically ill woman, symptoms and signs of recurrent small-bowel obstruction (without a history of abdominal surgery or external hernias) and pain along the ipsilateral thigh and knee (Howship-Romberg sign) should raise suspicion for an obturator hernia. If the hernia is not palpable by physical examination, a CT scan of the pelvis and upper aspect of the thigh would confirm the diagnosis before operation and allow prompt treatment and better chance of patient survival.
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PMID:Obturator hernia: a difficult diagnosis. 219 70

The Inuit (Eskimo) gene pool is in many respects similar to that of East Asian populations. Some polymorphisms imply frequent occurrence of disorders comparatively rare in Western Europe (e.g. lactose and sucrose malabsorptions). Low frequencies of alleles for slow isoniazid acetylation and sparteine/debrisoquine oxidation indicate slow elimination of a multitude of drugs. Autoimmune disorders (e.g. rheumatoid arthritis, insulin dependent diabetes mellitus, Graves' disease and psoriasis) are rare, possibly explained by the associations of these disorders with HLA-alleles rare in Inuit (e.g. HLA-B8). Correspondingly high incidence of reactive arthritis may be explained by a frequent HLA-B27 allele. Prevalence of disorders due to instability of mesenchymal tissues (e.g. spondylolisthesis, osteoarthrosis, hernia, heart block) are still in want of a biochemical explanation. Attention is drawn to the urgency of genetic studies in the Arctic because of the accelerating hybridization of Inuit in all circumpolar areas.
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PMID:Genetic epidemiology of Greenland. 259 Mar 15

The Inuit (Eskimo) gene pool is in many respects similar to that of East Asian populations. Some polymorphisms imply frequent occurrence of disorders comparatively rare in Western Europe (e.g. lactose and sucrose malabsorptions). Low frequencies of alleles for slow isoniazid acetylation and sparteine/debrisoquine oxidation indicate slow elimination of a multitude of drugs. Autoimmune disorders (e.g. rheumatoid arthritis, insulin-dependent diabetes mellitus, Graves' disease and psoriasis) are rare, possibly explained by the associations of these disorders with HLA-alleles rare in the Inuit (e.g. HLA-B8). A correspondingly high incidence of reactive arthritis may be explained by a frequent HLA-B27 allele. The prevalence of disorders due to instability of mesenchymal tissues (e.g. spondylolisthesis, osteoarthrosis, hernia, heart block) still requires a biochemical explanation. Attention is drawn to the urgency of genetic studies in the Arctic because of the accelerating hybridization of the Inuit in all circumpolar areas.
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PMID:Genetic epidemiology of Greenland. 268 6

Two groups of subjects have been studied: the first one affected by varicose veins in lower legs, the second one as control (both groups include 138 subjects, mostly corresponding about age, sex and general health conditions). Acrocyanosis, blue sclerae, juvenile spontaneous epistaxis, hand's primary osteoarthrosis, articular hypermobility, thin skin and hernia were present more frequently in the group affected by varicose veins, the difference being statistically very significant. We suggest that mechanical revealing factors lead to the development of varicose veins in subjects who have a constitutional and probably hereditary systemic weakness of connective tissue network.
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PMID:[Incidence of the manifestations of the so-called status varicosus of Curtius in subjects with idiopathic varices of the lower extremities]. 743 83

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

There are numerous etiologies to low back pain. Even if the degenerative origin is the most frequent one, other possible aetiologies have to be kept in mind. Inflammatory low back pain is encountered in the young patient, appearing at night and can be associated with extra-spinal symptoms (e.g. psoriasis, M. Reiter, etc.). The lumbar spine is rarely involved in chronic polyarthritis. In case of tumors, the metastasis is the most frequent cause whereas the plasmocytoma is the most frequent primitive bone tumor of the spine. Infectious diseases can be of hematogenous origin or by direct iatrogenic inoculation. Surgical treatment is indicated in case of inefficient medical treatment or if there is a risk of neurologic compromise or instability. Low back pain of metabolic origin is related to osteoporosis. Pain is secondary to vertebral compression fractures which makes it come close to post-traumatic low back pain caused by static disorders. Finally, in most cases low back pain is has a degenerative origin. The degenerative disease is dominated by the disc degeneration, primum movens of the degenerative disease. Alteration of the mechanical properties of the disc leads to degenerative arthritis in the intervertebral joints by modifying their motion pattern. These changes can lead to osteophytes which can, together with the narrowing of the disc space lead to a narrowing either of the foramen intervertebrale or the spinal canal (acquired lumbar stenosis). Treatment is nonoperative first except in urgent situations (conus cauda syndrome, disc hernia with paresia).
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PMID:[Etiologies of lumbago]. 1460 81

Benign familial hyperphosphatasemia is a rare biochemical abnormality characterized by the presence of persistently elevated levels of serum alkaline phosphatase in several members of the same familiy, in the absence of disease or any known cause of hyperphosphatasemia. We describe one family affected with this biochemical abnormality and the epidemiology, genetic, isoenzymatic patterns and clinical significance of this entity are discussed.A 61-year-old man was referred to the Unit of Metabolic Bone Diseases for investigation of a lumbar pain with a history of urolithiasis and inguinofemoral hernia repair. The results of the physical examination and laboratory analysis were normal except for a high serum alkaline phosphatase level of 690 UI/l (reference range 40-129 UI/l). Isoenzymatic profile showed a 50% of intestinal variant, 33% of bone variant and 17% of liver variant isoenzymes. Skeletal radiographs and lumbar magnetic resonance imaging showed signs of osteoarthritis in the spine, bone scan showed a skeletal distribution of the radioisotope.One year later the biochemical exams showed similar raised levels of alkaline phosphatase. Family investigation revealed that one of the three sons of the patient had the same biochemical disorder.
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PMID:[Benign familial hyperphosphatasemia. A report of one case and diagnostic considerations]. 1802 Aug 79

Exercise therapy is generally recommended in osteoarthritis (OA) of the hip or knee. However, coexisting disorders may bring additional impairments, which may necessitate adaptations to exercise for OA of the hip or knee. For the purpose of developing an adapted protocol for exercise therapy in OA patients with coexisting disorders, information is needed on which specific coexisting disorders in OA are associated with activity limitations and pain. To describe the relationship between specific coexisting disorders, activity limitations, and pain in patients with OA of the hip or knee, a cross-sectional cohort study among 288 older adults (50-85 years of age) with OA of hip or knee was conducted. Subjects were recruited from three rehabilitation centers and two hospitals. Demographic data, clinical data, information about coexisting disorders (i.e., comorbidity and other disorders), activity limitations (WOMAC: physical functioning domain), and pain (visual analogue scale (VAS)) were collected by questionnaire. Statistical analysis included descriptive statistics and multivariate regression analysis. Coexisting disorders associated with activity limitations were chronic back pain or hernia, arthritis of the hand or feet, and other chronic rheumatic diseases (all musculoskeletal disorders); diabetes and chronic cystitis (non-musculoskeletal disorders); hearing impairments in a face-to-face conversation, vision impairments in long distances, and dizziness in combination with falling (all sensory impairments); and overweight and obesity. Coexistent disorders associated with pain were arthritis of the hand or feet, other chronic rheumatic diseases (musculoskeletal disorders), and diabetes (non-musculoskeletal disorder). Specific disorders coexisting next to OA and associated with additional activity limitations and pain were identified. These coexisting disorders need to be addressed in exercise therapy and rehabilitation for patients with OA of the hip or knee.
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PMID:Osteoarthritis of the hip or knee: which coexisting disorders are disabling? 2017 25

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 microg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally <100 microg/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is generally absent in MPS VI, central nervous system findings may include cervical cord compression caused by cervical spinal instability, meningeal thickening and/or bony stenosis, communicating hydrocephalus, optic nerve atrophy and blindness. The disorder is transmitted in an autosomal recessive manner and is caused by mutations in the ARSB gene, located in chromosome 5 (5q13-5q14). Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation. Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). The finding of elevated urinary dermatan sulfate with the absence of heparan sulfate is supportive. In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS I, II IVA, VII), sialidosis and mucolipidosis. Before enzyme replacement therapy (ERT) with galsulfase (Naglazyme), clinical management was limited to supportive care and hematopoietic stem cell transplantation. Galsulfase is now widely available and is a specific therapy providing improved endurance with an acceptable safety profile. Prognosis is variable depending on the age of onset, rate of disease progression, age at initiation of ERT and on the quality of the medical care provided.
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PMID:Mucopolysaccharidosis VI. 2038 7

Herniation pits (HPs) of the femoral neck were first described in a radiological publication in 1982 as round to oval radiolucencies in the proximal superior quadrant of the femoral neck on anteroposterior radiographs of adults. In following early clinical publications, HPs were generally recognized as an incidental finding. In contrast, in current clinical literature they are mentioned in the context of femoroacetabular impingement (FAI) of the hip joint, which is known to cause osteoarthritis (OA). The significance of HPs in chronic skeletal disorders such as OA is still unclear, but they are discussed as a possible radiological indicator for FAI in a large part of clinical studies.In this paleoradiological study we examined a sample of mummies from the Capuchin Catacombs of Palermo, Sicily, by a mobile computed tomography (CT) scanner. Evaluation of the CT examinations revealed HPs in six out of 16 (37.5%) adult male mummies.The first aim of this study was to compare the characteristics of HPs shown in our mummy collection to the findings described in clinical literature. Thereby CT evaluation revealed that their osseous imaging characteristics are in accordance, consisting of round to oval subcortical lesions at the anterior femoral neck, clearly demarcated by a sclerotic margin.The second aim was to introduce HPs to the paleoradiological and paleopathological methodology as an entity that underwent a renaissance from an incidental finding to a possible radiological indicator of FAI in the clinical situation. As FAI plays an important role in the development of OA of the hip, which is a very common finding in human skeletal remains, HPs should always be considered in paleoradiological evaluation of hip joint diseases.
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PMID:Herniation pits in human mummies: a CT investigation in the Capuchin Catacombs of Palermo, Sicily. 2256 64


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