Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper presents epidemiological data on the prevalence of 26 common (i.e., having a lifetime prevalence of more than 1 per 10(4) individuals in the population) multifactorial diseases in Hungary and estimates of detriment associated with them. The detriment is expressed using 3 indicators, namely years of lost life (LL), potentially impaired life (PIL) and actually impaired life (AIL). The total prevalence of these diseases in Hungary has been estimated to be about 6500 per 10(4) individuals in the population. This estimate is in agreement with published data for other parts of the world. On the basis of clinical severity, these diseases have been split into 3 groups, namely (1) very severe (schizophrenia, multiple sclerosis, epilepsy, acute myocardial infarction and related conditions, and systemic lupus erythematosus); (2) moderately severe and/or episodal or seasonal (15 entities including Graves' disease, diabetes mellitus, gout, affective psychoses, essential hypertension, peptic ulcers, asthma, etc.); and (3) less severe than those in the first 2 groups (varicose veins, allergic rhinitis, atopic dermatitis, Scheuermann disease and adolescent idiopathic scoliosis). The essential clinical and genetic aspects of these diseases are briefly discussed. With the exception of epilepsy, none of the diseases included in our list causes mortality between ages 0 and 19. However, they are among the leading causes of death between ages 20 and 69 and thereafter. A sizeable proportion of those with essential hypertension, diabetes mellitus, rheumatoid arthritis, etc. survive to 70 years and beyond, as do those with gout, glaucoma, allergic rhinitis, psoriasis, etc. Overall, about 16% of all deaths that occur in Hungary every year (all age groups) can be attributed to these diseases. The mean number of years of PIL covers a wide range (about 20-40, 12-70 and 40-60 for groups 1, 2 and 3, respectively), the overall mean being about 24 years. However, the nature and degree of impairment and the impact on the life quality of those afflicted differ for the different diseases. Likewise, the mean number of years of AIL (for which the interval between the mean age at premature retirement and mean age at death was used as a rough index) also spans a wide range from 16 to 45, and the overall mean is about 20 years. At the population level, the diseases considered in this paper cause about 2700 years of LL, 96,000 years of PIL and about 5800 years of AIL per 10(4) individuals in the population. Relative to Mendelian diseases as a whole, these multifactorial diseases are associated with much greater detriment (LL: 1.4 X; PIL: 30 X and AIL: 3.9 X).
 ...
PMID:The load of genetic and partially genetic diseases in man. II. Some selected common multifactorial diseases: estimates of population prevalence and of detriment in terms of years of lost and impaired life. 305 77

The case of a 17-year-old boy with Chronic Recurrent Multifocal Osteomyelitis (CRMO) is presented. Clinical manifestations included a three month history of marked antalgic scoliosis, thoracic and mid-sternal pain, mild fever, elevated erythrocyte sedimentation rate, and skin lesions such as acne and psoriasis. Radiologically, osteolytic lesions were seen in the sternum and the thoracic spine. Histopathological examination of the sternal lesion revealed chronic osteomyelitis. Bone cultures of the resected specimen were negative for known pathogens. The combination of the clinical, radiological, histopathological and microbiological features was the clue to the diagnosis of CRMO.
 ...
PMID:Chronic recurrent multifocal osteomyelitis. 964 Aug 74

The prevalence of asymptomatic cardiac valve anomalies was determined in 82 patients (69 females and 13 males) diagnosed as having idiopathic scoliosis and scheduled for corrective surgery (mean age at surgery 16.3 years). The preoperative study in each patient included echocardiography and ultrasound Doppler. Twenty-three valvular anomalies were found in 20 patients (24.4%). The most frequent was mitral valve prolapse. The occurrence of valvular anomalies did not correlate with sex, curve magnitude, or age at diagnosis. Eighteen patients presented a total of 20 comorbid conditions: positive family history of scoliosis (five cases), isthmic spondylolisthesis (five cases), nervous anorexia (two cases), hereditary exostosis, cystic fibrosis, ureteral stenosis, mammary hypoplasia, slipped capital femoral epiphysis, psoriasis, celiac disease, and lactose intolerance. A significant relationship was found between valvular anomalies and comorbidity. Valvular anomalies were detected in 11 out of 64 patients (17.2%) with no comorbidity and in nine out of 18 patients (50%) with a comorbid condition (Chi-square 8.2, p = 0.004). In this latter group of patients, routine echocardiographic study seems advisable in the preoperative evaluation.
 ...
PMID:Prevalence of asymptomatic cardiac valve anomalies in idiopathic scoliosis. 1217 Mar 60

This study explores the psychological wellbeing of twenty-two (n = 22) adults with achondroplasia. The sample was composed of seven (n = 7) males and fifteen (n = 15) females between the ages of 21 and 75 (mean age = 39.6). Each individual completed four self-administered questionnaires: the Beck Depression Inventory (BDI-l), the Beck Anxiety Inventory (BAI), the Beck Hopelessness Scale (BHS), and Derogatis Symptom Check-list-90-Revisited (SCL-90-R). They also filled out a socio-demographic questionnaire. We found that 31.8% of the sample reported at least one comorbid condition such as, hypertension, diabetes, rheumatoid arthritis, asthma, scoliosis, thyroid problems, neuropathy, psoriasis, gastritis and/or sleep apnea; 32% reported mild to severe depressive symp- toms; 55% reported mild to severe symptoms associated to anxiety and 18% reported mild to severe symptoms associated with hopelessness; 22.7% reported mild to severe symptoms in at least one of the sub-scales in Derogatis Symptom Checklist-90-Revisited (SCL-90-R) particularly the obsessive-compulsive, paranoid and depressive subscales. Chi Square correlations (X2) were made to observe if there was interdependence between the socio-demographic variables and the administered tests. In general, no significant correlations were found between BDI-Il, BAI, BHS, SCL-90-R and civil status, gender, income and age. However, a significant correlation was found between age and the somatization sub-scale of the SCL-90-R (rs = 0.510, p < 0.05). Our findings suggest that this particular sample is at risk for developing psycho-medical conditions. There is a marked lack of research in Puerto Rico associated to achondroplasia. The development of preventive and cultural sensitive interventions is suggested in order to protect and treat individuals with the condition.
 ...
PMID:[Achondroplasia: a pilot study on the psychosocial and medical features of a sample in Puerto Rico]. 2674 98