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 explored the manifestations of an autosomal-recessive multisystemic disorder in several Saudi families. Recognized causes of progressive extra-pyramidal disorder and white matter disease were excluded and the neurological, imaging, endocrine, and skin manifestations of this syndrome described. The onset of these symptoms in these patients began in early adolescence and progressed more rapidly in males. All affected patients had total or partial alopecia, clinical and chemical evidence of hypogonadism (low levels of estradiol and testosterone); females had clear evidence of hypogonadism (streak or absent ovaries), and some patients had diabetes mellitus and/or sensorineural deafness. The constant biochemical abnormality was the low IGF-1. The neurological manifestations included moderate to severe intellectual decline and abnormality of muscle tone and posture with choreo-athetoid and dystonic movements resulting in gait difficulty, dysarthria, difficulty swallowing, and scoliosis. The MRI of brain demonstrated white matter involving cerebellum, brain stem, and cerebral structures, as well as abnormal decreased signal intensity in the basal ganglia with involvement of the substantia nigra. We conclude that the association of hypogonadism, alopecia, and persistent low IGF-1 is a significant autosomal recessive syndrome; it is prevalent in Saudi Arabia. We also demonstrate that the progressive extra-pyramidal disorder, white matter disease, and abnormal signals of the basal ganglia are common features of this syndrome. Sensorineural deafness and diabetes mellitus were recognized features.
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PMID:Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. 1716 99

We retrospectively evaluated the efficacy of combination therapy with steroid and hyperbaric oxygenation for sudden idiopathic sensorineural hearing loss (SISNHL). Patients (n: 109; 111 ears) visited our clinic within 14 days from onset before receiving treatment between January 1999 and March 2003. Hearing loss was assessed based on criteria prepared by the Ministry of Health and Welfare Acute Severe Hearing Loss Study Group. Patients were distributed into Group I-95 patients who started treatment within 7 days from onset-, and Group II-14 patients who started treatment within 8-14 days from onset. We evaluated the outcome of therapy using grading established by The Research Committee on Acute Profound Deafness, Ministry of Health and Welfare, Japan. The complete recovery of hearing was worse in patients with severe hearing loss. It was 4.8% in grade 4a, 18.2% in grade 3a, 25% in grade 2a, 20.0% in grade 4b, 38.5% in grade 3b, and 66.7% in grade 2b. We studied the relationship between type of hearing loss and recovery after treatment. The complete recovery of hearing was most favorable in patients with low tone hearing loss, followed by those with middle tone hearing loss and those with horizontal hearing loss. These findings indicate that the type of hearing loss was the most significant determinant of SISNHL prognosis and course. Twenty patients with acute stage SISNHL had diabetes mellitus. The recovery of hearing was almost the same in those with and without diabetes mellitus. Recovery was complete in 32.4%, Niarked in 32.4%, and slight in 21.6%. In 13.5%, no change was observed. Our results and data from previous reports, involving more than 70 Japanese patients treated with steroids alone, suggest that combination therapy with steroid and hyperbaric oxygenation is effective for SISNHL.
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PMID:[Combination steroid and hyperbaric oxygenation therapy for sudden idiopathic sensorineural hearing loss]. 1756 29

Sensorineural hearing loss is more common in patients with diabetes than in the control nondiabetic patients, and severity of hearing loss seemed to correlate with progression of disease. This may be due to microangiopathic disease in the inner ear. References for diabetic microangiopathy are presented. Sensorineural hearing loss can often be helped by hearing aids. During the last decade there have been significant developments in hearing aid technology. Progress began with the presentation of programmable hearing aids in the late 1980's. The first hearing aids with fully digital signal processing became commercially available in 1995. The hearing aid is programmable, which means that it can be adjusted individually by a hearing healthcare professional (hearing aid fitting at departments of phoniatrics and of audiology in our country). The article gives an outline of indications for hearing aids.
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PMID:[Sensorineural hearing loss in diabetes. Prosthetic care in hearing impaired patients]. 1764 38

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive condition, characterized by megaloblastic anaemia, non-autoimmune diabetes mellitus, and sensorineural hearing loss. We describe three infants with TRMA from two consanguineous Pakistani families, who were not known to be related but originated from the same area in Pakistan. All children were homozygous, and the parents were heterozygous for a c.196G>T mutation in the SLC19A2 gene on chromosome 1q23.3, which encodes a high-affinity thiamine transporter. The result is an abnormal thiamine transportation and vitamin deficiency in the cells. Thiamine in high doses (100-200 mg/d) reversed the anaemia in all our patients. Two patients discontinued insulin treatment successfully after a short period, while the third patient had to continue with insulin. The hearing loss persisted in all three children. The diagnosis of TRMA should be suspected in patients with syndromic diabetes including hearing loss and anaemia, even if the latter is only very mild and, particularly, in the case of consanguinity.
Pediatr Diabetes 2007 Aug
PMID:Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood. 1765 67

Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissection. These patients also are at risk of congenital lymphedema, renal malformation, sensorineural hearing loss, osteoporosis, obesity, diabetes, and atherogenic lipid profile. Patients usually have normal intelligence but may have problems with nonverbal, social, and psychomotor skills. Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus. A Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea. Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. Almost all women with Turner syndrome are infertile, although some conceive with assisted reproduction.
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PMID:Turner syndrome: diagnosis and management. 1770 42

A 38-year-old man with mild sensorineural hearing loss, diabetes mellitus, proteinuria, and slight renal dysfunction was admitted to our hospital for a renal biopsy to determine the cause of kidney disease. His elder sister and mother also had sensorineural hearing loss and renal failure, suggesting the existence of a common genetic disease in this family. Although the clinical features of the patient were similar to features of Alport syndrome, renal biopsy revealed no sign of Alport syndrome. We next considered a possibility of a mitochondrial kidney disease described by Jansen in 1997. Indeed, genetic analysis of mitochondrial DNA clarified the existence of A3243G mutation in the patient and his sister. This syndrome should be recognized by nephrologists as a differential diagnosis of Alport syndrome, diabetic nephropathy, and primary glomerular diseases.
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PMID:A familial case of mitochondrial disease resembling Alport syndrome. 1818 Aug 72

Loss of olfaction in old age is a frequent problem, which occurs at the same frequency as diabetes or severe sensorineural hearing loss. Problems caused by loss of the sense of smell may include weight loss due to loss of appetite, intake of rotten foods, social isolation and depression. Until now the loss of olfactory function has received relatively little attention compared to diabetes or hearing loss. In this article we review the loss of the sense of smell with age. Possible therapies are discussed to improve the quality of life in older people.
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PMID:[Loss of olfaction with aging: a frequent disorder receiving little attention]. 1832 94

Most familial cases of autosomal dominant low frequency sensorineural hearing loss (LFSNHL) are attributable to mutations in the wolframin syndrome 1 (WFS1) gene at the DFNA6/14/38 locus. WFS1 mutations at this locus were first described in 2001 in six families segregating LFSNHL that was non-progressive below 2,000 Hz; the causative mutations all clustered in the C-terminal domain of the wolframin protein. Mutations in WFS1 also cause Wolfram syndrome (WS), an autosomal recessive neurodegenerative disorder defined by diabetes mellitus, optic atrophy and often deafness, while numerous single nucleotide polymorphisms (SNPs) in WFS1 have been associated with increased risk for diabetes mellitus, psychiatric illnesses and Parkinson disease. This study was conducted in an American family segregating autosomal dominant LFSNHL. Two hearing impaired family members also had autoimmune diseases-Graves disease (GD) and Crohn disease (CD). Based on the low frequency audioprofile, mutation screening of WFS1 was completed and a novel missense mutation (c.2576G --> A) that results in an arginine-to-glutamine substitution (p.R859Q) was identified in the C-terminal domain of the wolframin protein where most LFSNHL-causing mutations cluster. The family member with GD also carried polymorphisms in WFS1 that have been associated with other autoimmune diseases.
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PMID:Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 1868 68

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency, and is characterized by hypoplastic nasal alae, mental retardation, sensorineural hearing loss, short stature, scalp defects, dental abnormalities and abnormal hair patterns. Growth hormone deficiency, hypopituitarism, and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however, normal intelligence can occur. In the pancreas, there is a selective defect of acinar tissue, whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children, suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features, in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.
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PMID:Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. 1905 15

Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. Mutations in the SLC19A2 gene, encoding a high-affinity thiamine transporter protein, THTR-1, are responsible for the clinical features associated with thiamine-responsive megaloblastic anemia syndrome in which treatment with pharmacological doses of thiamine correct the megaloblastic anemia and diabetes mellitus. The anemia can recur when thiamine is withdrawn. Thiamine may be effective in preventing deafness if started before two months. Our patient was found homozygous for a mutation, 242insA, in the nucleic acid sequence of exon B, with insertion of an adenine introducing a stop codon at codon 52 in the high-affinity thiamine transporter gene, SLC19A2, on chromosome 1q23.3.
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PMID:Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness. 1981 79


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