Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The relationship between a fragile site on the X chromosome and autism has been well documented. The authors report a three-year-old child with partial duplication of the short arm of chromosome Y, who had an autistic disorder. He was microcephalic, but otherwise had a normal phenotype. There was a history of preterm birth and maternal diabetes. This is the sixth case of sex chromosome Y aneuploidy associated with autism, but the first with an isodicentric Y. In well-substantiated cases of autism, clinicians should now consider abnormalities of the Y as well as the X chromosome.
 ...
PMID:Autistic disorder associated with an iso-dicentric Y chromosome. 201 85

During the last 30 years the Frambu Health Centre has evolved from a summer-camp site for children with poliomyelitis to a modern information and treatment Centre for families with disabled members. Since 1976, fortnightly courses have been held for an increasing number of patients with rare, often congenital and/or hereditary disorders (anorectal anomalies, bladder extrophy, congenital heart defects, cystic fibrosis, severe diabetes, hemophilia, hip joint defects, juvenile rheumatoid arthritis, minimal brain dysfunction, muscular dystrophy, phenylketonuria, psychosis/autism, spina bifida, Huntington's chorea, osteogenesis imperfecta, retitinitis pigmentosa, a. o.). This article describes the facilities, operation, financing and staff at Frambu. An outline of the course programme is given. The contents of two research projects carried out at Frambu are described. When families with rare disorders meet for the first time, new perspectives open up. Exchange of experience and feelings, establishing lay organizations, collating and distributing information to professionals and families are some of the important results of the Frambu courses.
 ...
PMID:Frambu Health Centre: promoting family focused care for disabled children. 622 40

Data are reviewed on the effects of massage therapy on infants and children with various medical conditions. The infants include: premature infants, cocaine-exposed infants, HIV-exposed infants, infants parented by depressed mothers, and full-term infants without medical problems. The childhood conditions include: abuse (sexual and physical), asthma, autism, burns, cancer, developmental delays, dermatitis (psoriasis), diabetes, eating disorders (bulimia), juvenile rheumatoid arthritis, posttraumatic stress disorder, and psychiatric problems. Generally, the massage therapy has resulted in lower anxiety and stress hormones and improved clinical course. Having grandparent volunteers and parents give the therapy enhances their own wellness and provides a cost-effective treatment for the children.
 ...
PMID:Massage therapy for infants and children. 779 May 16

A hospital-based adult learning disabled population (n = 371) was screened for polydipsia with the help of a purpose-designed questionnaire. Polydipsia was defined as excessive drinking of more than 3 l of non-alcoholic fluid over a 24-h period. Altogether, 23 (6.2%) subjects were found to have polydipsia. The polydipsic group was compared with the whole hospital population on variables such as age and IQ distribution. A matched group of 23 individuals without a history of polydipsia was drawn from the same hospital population. The polydipsic and the matched group were compared using various biochemical and psychological measures. Thirty-five per cent of polydipsic patients, compared to 13% of the matched group, showed evidence of compensated hyponatraemia. This difference was not significant. There was no significant difference between the polydipsic and the matched group in the frequency of psychiatric illness, behavioural problems or autism. There also was no significant difference in the IQ levels of the polydipsic patients and the total hospital population. Polydipsia in this population is largely seen as part of an abnormal behavioural repertoire without any evidence of possible organic cause, except unidentified diabetes mellitus. Klein Levin syndrome and pica were represented in the polydipsic group, but not amongst the matched group.
 ...
PMID:Polydipsia amongst adults with a learning disability in an institution. 794 88

It is widely accepted that genes play a role in the etiology of autism. Evidence for this derives, in part, from twin data. However, despite converging evidence from gene-mapping studies, aspects of the genetic contribution remain obscure. In a sample of families selected because each had exactly two affected sibs, we observed a remarkably high proportion of affected twin pairs, both MZ and DZ. Of 166 affected sib pairs, 30 (12 MZ, 17 DZ, and 1 of unknown zygosity) were twin pairs. Deviation from expected values was statistically significant (P<10(-6) for all twins); in a similarly ascertained sample of individuals with type I diabetes, there was no deviation from expected values. We demonstrate that to ascribe the excess of twins with autism solely to ascertainment bias would require very large ascertainment factors; for example, affected twin pairs would need to be, on average, approximately 10 times more likely to be ascertained than affected non-twin sib pairs (or 7 times more likely if "stoppage" plays a role). Either risk factors (related to twinning or to fetal development) or other factors (genetic or nongenetic) in the parents may contribute to autism.
 ...
PMID:Excess of twins among affected sibling pairs with autism: implications for the etiology of autism. 1238 74

Vaccinations protect to a high degree against infectious diseases, but may cause side effects. In the Netherlands since 1962 the adverse events following immunizations are registered and analysed by the National Institute of Health and Environment (RIVM). Since 1983 a permanent Committee of the Dutch Health Council reviews adverse events reported to the RIVM. With the so-called killed vaccines the side effects are mainly local (redness, swelling, pain) or general (fever, listlessness, irritability, sleep and eating problems). They are seen mainly after DPT-IPV vaccination against diphtheria, pertussis, tetanus and poliomyelitis. Some side effects occur rarely (collapse reactions, discoloured legs, persistent screaming and convulsions) and very rarely serious neurological events are reported. After MMR vaccination against measles, mumps and rubella, cases of arthritis, thrombocytopenia and ataxia are reported sporadically. Usually, they have a spontaneous recovery. During recent years a scala of diseases or symptoms have been associated with vaccination (presumed side effects). Careful and extensive investigations have shown that such hypotheses could not be supported. Examples are allergic diseases as asthma, diabetes mellitus, multiple sclerosis (after hepatitis B vaccination), autism and inflammatory bowel disease (after MMR vaccination) and sudden infant death syndrome. The total number of cases where at least a possible relation between side effects and vaccination is observed--apart from local reactions and moderate general symptoms--is very rare (about 0.25 per 1000 vaccinations) and does not balance the benefits from vaccination. There appears increasing doubt about the use and safety of vaccinations. More research is needed about the motives of people to choose for and against vaccination. The education about vaccination for parents and professionals who are involved with vaccination has to be improved. Internet can play an important role.
 ...
PMID:[Childhood vaccinations anno 2004. II. The real and presumed side effects of vaccination]. 1503 89

The final phase of the Disability Discrimination Act (DDA) comes into force in October 2004. The DDA Code of Practice is a document to guide organizations in the implementation of and compliance with the Act. The DDA Code of Practice (2002) makes reference to specific impairments, such as hearing and visual impairments, and there are numerous examples of how 'reasonable adjustments' can be made to enable access to those so disabled. There is recognition that some impairments are hidden, e.g. learning disabilities and diabetes. However, no mention is made of those with autism. The impairments of autism including Asperger syndrome are also 'hidden impairments' as defined by the DDA and this will mean that it will not be immediately obvious as to how the Act will help nurses to amend their practice to enable people with autism full inclusion and access to health care. This article will explore practical implications and outline how nurses can develop their practice to be compliant with the Act and to ensure good 'health care' practice for people diagnosed within the autism spectrum.
 ...
PMID:Autism: developing a strategy for nursing to prevent discrimination. 1528 43

The complement system is an important humoral defense mechanism that plays a relevant role against microbial agents, inflammatory response control, and immunocomplex clearance. Classical complement pathway activation is antibody-dependent. The C4 component participates in the initial step of activation, and C4 expression is determined by 2 pairs of allotypes: C4A and C4B. Deficiencies in C4 allotypes have been associated with several diseases. The aim of the present review is evaluate the reported data in the literature regarding specific C4A and C4B deficiencies and characterize their clinical relevance. We searched the MEDLINE and LILACS databases. Papers referring to total C4 deficiency without allotype evaluation and case reports of primary C4 deficiency were not included. Deficiencies in C4 allotypes have been associated with Mycobacterium leprae infection, erythema nodosum, systemic sclerosis with anti-topoisomerase I antibodies, intermediate congenital adrenal hyperplasia with DR5 genotype, diabetes mellitus type 1 with DR3,4 genotype, and diabetes mellitus with antibodies against islet cells. C4 allotype deficiency is also related to C4B deficiency and autoimmune-associated diseases, such as systemic lupus erythematosus, or diseases with an autoimmune component, such as autism. Some reports associate C4A with thyroiditis after delivery as well as limited and systemic sclerosis without anti-topoisomerase I antibodies. However, the studies with C4A and C4B have been concentrated in isolated populations, and some of the studies could not be reproduced by other authors.
 ...
PMID:Involvement of C4 allotypes in the pathogenesis of human diseases. 1528 35

Comorbidity is the rule, not the exception, in bipolar disorder. The most common mental disorders that co-occur with bipolar disorder in community studies include anxiety, substance use, and conduct disorders. Disorders of eating, sexual behavior, attention-deficit/hyperactivity, and impulse control, as well as autism spectrum disorders and Tourette's disorder, co-occur with bipolar disorder in clinical samples. The most common general medical comorbidities are migraine, thyroid illness, obesity, type II diabetes, and cardiovascular disease. Bipolarity is a marker for comorbidity, and comorbid disorders, especially multiple conditions occurring when a patient is young, may be a marker for bipolarity. Relatively few controlled clinical studies have examined the treatment of bipolar disorder in the context of comorbid conditions (i.e., complicated or comorbid bipolar disorder). However, the first step in treating any type of complicated bipolar disorder--stabilizing a patient's mood--may be associated with improving the comorbid disorder. Standard mood stabilizers, atypical antipsychotics, and non-antimanic antiepileptic agents are emerging as potentially useful treatments for several of the disorders that frequently co-occur with bipolar disorder, and therefore may be useful treatments for comorbid bipolar disorder.
 ...
PMID:Diagnosing and treating comorbid (complicated) bipolar disorder. 1555 95

CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.
 ...
PMID:CHARGE association in Sweden: malformations and functional deficits. 1563 80


1 2 3 4 5 6 7 8 9 10 Next >>