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

We here present three cases with Alopecia Areata and Narcolepsy, an association we believe to be hitherto undescribed. Narcolepsy is a low-frequency (0.5%) disorder. It is now accepted that the majority of patients with narcolepsy are DR2 positive. Alopecia Areata is a disease whose incidence in Caucasian population is between 0.05% and 1%. In both diseases there is a set of common data and the origins of the two diseases have been related to an autoimmunity mechanism. In both, a higher than normal incidence of diabetes has been recorded, together with a predominant HLA type pattern. We believe that this association is not casual although epidemiological studies are needed to test our working hypothesis.
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PMID:[Narcolepsy and alopecia areata: a new association?]. 150 4

It is nearly 20 years since the first reports appeared linking genes within the human major histocompatibility complex, the HLA region, with disease. The literature now contains many hundreds of papers confirming an increased frequency of different HLA antigens in a diverse spectrum of conditions, ranging from narcolepsy to diabetes. Over the years many different hypotheses have been proposed to explain this association, but none has been proven. Nevertheless, our knowledge of the HLA region and the function of its many genes is expanding rapidly and the pathogenesis of many HLA-linked diseases may soon become apparent. In this review we aim to provide clinicians with a broad understanding of the basis for the association between HLA and disease. We will describe the genes of the HLA region before discussing the diseases with which they are linked. Finally, we will explore mechanisms through which HLA genes might influence disease.
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PMID:HLA and disease. 179 96

GH is secreted episodically. Its pattern is regulated by the interplay of a releasing and a release-inhibiting hormone of hypothalamic origin. Modulation occurs by metabolic factors (glucose, free fatty acids, ketone bodies, amino acids). Altered GH secretion has been observed in states of metabolic derangement such as diabetes mellitus, malnutrition and obesity. Further modulation occurs by extrahypothalamic CNS structures. In man--but not in animals, including subhuman primates--sleep has an important effect on GH secretion. A defective GH secretory pattern has been found to occur in several states of sleep disturbance, such as sleep deprivation, narcolepsy, severe psychosocial derangement, the apallic syndrome. Other CNS influences on GH secretion are related to stress, emotional changes and psychiatric disturbances. The exact mechanisms by which most of these influences are relayed to the GH secretory apparatus of the hypothalamus remain yet to be investigated.
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PMID:Hypothalamic control of GH secretion: pathophysiology and clinical implications. 285 44

We have studied in 22 informative families typed for HLA the segregation of DNA restriction fragments obtained with five restriction enzymes and hybridized with one class I and three class II probes. Most of the fragments correlate with serologically defined specificities. Many fragments can be grouped in clusters, whose genetic significance is discussed. The RFLP distribution in patients with insulin-dependent diabetes mellitus, multiple sclerosis or narcolepsy, three diseases known to be associated with some HLA-DR specificities, has been also studied. Many fragments allow to distinguish between patients and HLA-DR matched controls. Hybridization of genomic DNA with synthetic oligomers will refine moreover the understanding of the HLA system polymorphism.
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PMID:New methods for detection of HLA genes polymorphism useful for associated diseases studies. 353 98

We report the findings of a total population survey of Thugbah community in the Eastern Province of Saudi Arabia (SA) to determine its point prevalence of neurological diseases. During this two-phase door-to-door study, all Saudi nationals living in Thugbah were first screened by trained interviewers using a pretested questionnaire (sensitivity 98%, specificity 89%) administered at a face-to-face interview. Individuals with abnormal responses were then evaluated by a neurologist using specific guidelines and defined diagnostic criteria to document neurological disease. The questionnaire was readministered blind by a neurologist to all those with abnormal responses and a 1-in-20 random sample of those without abnormal responses, respectively. The family members of an individual with an abnormal response were also screened to improve accuracy. A total of 23,227 Saudis (98% of the eligible subjects) were screened and those residing in Thugbah on the reference date (22,630) were used to calculate the point prevalence rates. Forty-two percent of those screened were in the first decade of life and only 1.5% were more than 60 years old. There were marginally more females (50.2%) than males (49.8%). Consanguineous marriages especially between first cousins were present in 54.6%. The demographic characteristics of Thugbah community were similar to those in other parts of SA. The overall crude prevalence ratio (PR) for all forms of neurological disease was 131/1,000 population. All subsequent PRs are per 1,000 population. Headache syndromes were the most prevalent disorder (PR 20.7). The PR for all seizure disorders was 7.60, and the epilepsies (6.54) were more frequent than febrile convulsions (0.84). Mental retardation, cerebral palsy syndrome, and microcephaly were common pediatric problems with PRs of 6.27, 5.30 and 1.99, respectively. Stroke, Parkinson's disease, and Alzheimer's disease were uncommon with respective PRs of 1.8, 0.27 and 0.22. Central nervous system (CNS) malformations (0.49) such as hydrocephalus and meningomyelocele were more prevalent than spinal muscular atrophy (0.13), congenital brachial palsy (0.13) and narcolepsy (0.04). Multiple sclerosis was rare (0.04). Osteoarthritis and low back pain syndromes were the main non-neurological conditions seen. The major medical diseases that may be neurologically relevant were diabetes mellitus, hypertension, and connective tissue disorders.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:A community survey of neurological disorders in Saudi Arabia: the Thugbah study. 827 77

A new autosomal dominant syndrome in a Swedish pedigree is described. Five patients were affected with cerebellar ataxia and sensorineural deafness. Four of these patients had symptoms of narcolepsy. Optic atrophy, other neurological abnormalities and psychiatric symptoms developed with increasing disease duration. Three patients had non-neurological disease in addition, including diabetes mellitus in two and hypertrophic cardiomyopathy in one. Autopsy with neuropathological examination was performed in one case. Molecular studies focused on the short arm of chromosome 6, including the HLA DR2 locus associated with narcolepsy and the (CAG)n repeat at the spinocerebellar ataxia type 1 (SCA1) locus. Biochemical investigation of muscle biopsy of one case indicated mitochondrial dysfunction with selective decrease in ATP production for substrates that normally give the highest rates. The activity of glutamate dehydrogenase was reduced, indicating a low mitochondrial density. We postulate an autosomal dominant genetic factor responsible for this syndrome. Linkage was excluded to HLA DR2, and a normal sized SCA1 repeat was observed. We conclude that a locus predisposing to ataxia, deafness and narcolepsy exists outside this region of chromosome 6.
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PMID:Autosomal dominant cerebellar ataxia deafness and narcolepsy. 874 54

The periodic limb movements (PLM) are defined as stereotyped, periodic movements of the legs and/or upper limbs during sleep. The patient exhibits dorsifilexion of the ankle and extension of the big toe with occasional flexion of the knee and hip. PLM originally was described as "nocturnal myoclonus" by Symonds in 1953. Recently, the term "nocturnal myoclonus" has been replaced with PLM, because the movements are slower than true myoclonic movement. The appearance of PLM was reported in sleep apnea syndrome, delayed sleep phase syndrome, narcolepsy, spinal cord tumor, diabetes mellitus and uremia. The prevalence of PLM statistically increase with age. Patients with PLM show excessive daytime sleepiness or insomnia. Several reports show the difficulty recognizing periodic limb movement disorder (PLMD) without polysomnography (PSG). The diagnosis of PLMD is established only by PSG.
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PMID:[Periodic limb movement disorder]. 950 40

Chromosome 6 is probably best known for encoding the major histocompatibility complex (MHC) which is essential to the human immune response. In addition, it has been shown to be associated with many diseases such Schizophrenia, Diabetes, Arthritis, Haemochromatosis, Narcolepsy, Epilepsy, Retinitis Pigmentosa, Deafness, Ovarian Cancer, and many more. Chromosome 6 is about 180 Mb in size and is estimated to encode around 3500 genes of which only about 10% are currently known. It is our aim to map, sequence and annotate the entire chromosome in close collaboration with the chromosome 6 community.
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PMID:The chromosome 6 sequencing project at the Sanger Centre. 1066 56

Increased Body Mass Indices (BMIs), increased prevalences of non insulin-dependent diabetes and sleep apnoe syndrome have been reported to be associated with narcolepsy. Our objective was to explore and possibly confirm the association of narcolepsy and increased BMI. In addition, we addressed the question whether increased BMIs also occur in relatives of narcoleptic patients. Together with narcolepsy-related clinical parameters we measured body weight and height of 132 narcoleptic patients who agreed to participate in our narcolepsy research program. In addition, 52 first degree relatives of 22 index patients, mostly from multiplex families, were included in the study. Data were compared to published general population surveys, recently conducted in Germany and Switzerland as well as to collective of 104 psychiatric inpatients. Narcoleptic patients had significantly increased BMIs in comparison to general populations or psychiatric controls. BMIs of first degree relatives were lower than those of index patients but significantly higher than those found in the general population. BMIs were not related to symptom severity or to medication status. Thus, the elevated BMIs appeared not to be secondary to behavioral consequences of narcolepsy but may reflect a trait at least partially common to index patients and relatives.
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PMID:Increased prevalence of obesity in narcoleptic patients and relatives. 1140 43

(1) Amphetamine-like drugs are not only authorised for use as appetite suppressants. (2) Bupropion, otherwise known as amfebutamone, is licensed as an aid to smoking withdrawal. It has amphetamine-like adverse effects, such as seizures; in addition it causes hypersensitivity reactions. (3) Benfluorex is sold in France as an adjunctive treatment for hypertriglyceridemia and diabetes with overweight. The lack of data on its adverse effects is hardly reassuring. A case of severe cardiac valve disease has been published. (4) The ephedrine derivatives norephedrine (phenylpropanolamine) and pseudoephedrine are used in ENT as decongestants because of their vasoconstrictive properties. They expose patients to serious cardiovascular risks. Ephedrine and plants belonging to the genus Ephedra (used in freshly prepared appetite suppressant mixtures) have negative risk-benefit ratios. (5) Methylphenidate is used as a psychostimulant in patients with narcolepsy and children with attention-deficit disorder. It can lead to serious mental and physical dependence.
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PMID:Hidden amphetamines: from smoking cessation to diabetes. 1505 18


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