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)

A 55-year-old female with progressed dementia, cerebellar ataxia was reported. There was no family history of the same symptoms although her brothers, sisters and a son showed hypoceruloplasminemia and decrease of the serum copper content. On physical examination, anemia, dementia, dysarthria, torticollis, choreic involuntary movement of respiratory muscles, hyperreflexia in extremities and cerebellar ataxia were noted. Blood analysis revealed microcytic hypochromic anemia, diabetes mellitus, decrease of copper content of the serum and urine. Serum ferritin concentration was increased. Serum ceruloplasmin could not be detected. Biopsy of the liver showed that copper content in the liver was slightly increased and iron content was remarkably increased. On MRI study, dentate nucleus of the cerebellum, the thalamus, the putamen and the caudate nucleus and the liver showed low intensity in both T1 and T2 weighted images. Based on increased iron content in the liver, the radiological findings of the brain suggested deposition of iron in the brain. This deposition was considered as caused by deficiency of function of ceruloplasmin as ferroxidase. This disorder is suggested as a new disease due to ceruloplasmin deficiency different from Wilson's disease.
 ...
PMID:[A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. 145 25

The natural history of cervical dystonia (spasmodic torticollis) was investigated in a population-based study in Rochester, Minnesota. Eleven new cases were identified with onset during the 20-year period 1960-1979. The overall incidence rate was 1.2 per 100,000 person-years (95% confidence interval 0.5-1.9) with a female:male ratio of age-adjusted incidence rates of 3.6:1. A unitary etiology was not apparent: injury antedated onset in four of the 11 patients, whereas six had documented thyroid disease and four had diabetes. A family history of movement disorder was recorded for only one subject. Only one of the cases would have been classified as moderate in severity; the others were mild. In follow-up through 1993, progressive disability was noted in only two patients, and two others went into remission. Three cases of intracranial aneurysm were confirmed, two of which produced fatal subarachnoid hemorrahage. A third death was due to amyotrophic lateral sclerosis.
 ...
PMID:Epidemiology and outcome of cervical dystonia (spasmodic torticollis) in Rochester, Minnesota. 855 13

The Ekbom's syndrome, also known as delirium of parasitic infestation, acarophobia, delusional parasitosis, psychogenic parasitosis, is a disease of rare occurrence. Generally it is characterized by the firm conviction of the patients to be infected by worms that come out of the skin, usually from the scalp or even from the mouth, from the eyes or from the genital region. Most of the patients are elderly and female, and with frequent social isolation. Some cases are associated with organic diseases as hyperthyroidism, diabetes, cortical lesion, intoxication by medicines. To our knowledge the association between delusional parasitosis with spasmodic torticollis was not described in literature. We report the case of a 72-year-old-woman with delusional parasitosis associated with spasmodic torticollis.
 ...
PMID:[Ekbom's sydrome and spasmodic torticollis: case report]. 1196 28

This report concerns a neonatal case of oculoauriculovertebral spectrum born to a thirty-five years old preexisting diabetic mother. The clinical presentation included left atretic external auditory canal with pre-auricular skin tag, asymmetric hypoplastic left face, bilateral additional 13th ribs, left torticollis, micrognathia, and low hair line. The possible association of oculoauriculovertebral spectrum and maternal diabetes is discussed, and the literature is reviewed.
 ...
PMID:Oculoauriculovertebral spectrum in an infant of diabetic mother. 1586 52

Retropharyngeal abscesses are rare in adults. They occur mostly in immunocompromised patients or as a foreign body complication. We report 5 cases of retropharyngeal abscess collected in the ENT Department of CHU Mohammed VI of Marrakech, during a two-year period (December 2008 to December 2009). Local trauma by foreign body ingestion was the aetiology in four patients. The presenting symptoms, for all patients, were fever, odynophagia, torticollis, and trismus, and the clinical examination showed bulging of the posterior wall of the oropharynx. The radiography of cervical spine showed prevertebral thickening in all cases, this thickening was associated with an aspect of vertebral lysis of the fourth cervical vertebra in one case. A CT scan was performed in all our cases and showed features of retropharyngeal abscess which was associated, in one case, with spondylodiscitis. The biological assessment found one case of diabetes. The intradermal reaction to the tuberculin was clearly positive in one case. Endobuccal abscess puncture was practiced in 4 cases; only one organism was identified by culture: Staphylococcus aureus treatment was based on triple intravenous antibiotics and anti-Koch's therapy (in one case), and the surgical drainage under general anesthesia was also performed in the case of the diabetes patient which required also the correction of hyperglycemia in intensive care unit. The outcome was good in all our patients. The diagnosis of retropharyngeal abscess can be difficult and one must seek a comorbidity; a tuberculosis aetiology must be considered in countries with a high prevalence. The management of these cases is based on antibiotics and surgical drainage.
 ...
PMID:Retropharyngeal abscess in adults: five case reports and review of the literature. 2212 22

During 2006 through 2012, spontaneous group B Streptococcus infections were reported in 22 female KK-Ay mice, an animal model of type 2 diabetes. The affected mice were 5 to 27 wk old, and the cases involved various body sites, including cases of submandibular, caudal, and lumbar abscesses (n =18) or led to torticollis (n = 2), hydrocephalus (n = 1), or moribund clinical signs (n = 1). At necropsy, the mouse with hydrocephalus also demonstrated retained exudate in the uterus, and the moribund mouse showed renal inflammation. Streptococcus agalactiae was isolated in pure culture from all except 2 cases: the facial abscess also yielded Klebsiella pneumoniae, and the uterine exudate was coinfected with Staphylococcus aureus. In addition, S. agalactiae was isolated from the oral cavity and feces of normal KK-Ay mice. S. agalactiae potentially can cause a clinically significant spontaneous infection in a mouse model of diabetes.
 ...
PMID:Spontaneous Infection Caused by Streptococcus agalactiae in KK-Ay Mice. 2893 3

BACKGROUND We present a case of a 24-year-old woman with type 1- diabetes mellitus who developed necrotizing fasciitis (NF) due to Streptococcus agalactiae after a recent colposcopy. Literature review suggests this as the first case to be reported. CASE REPORT The patient initially presented to the emergency department (ED) with right lower neck pain and spasm of the right sternocleidomastoid muscle (SCM), with decreased range of motion. She was diagnosed with torticollis and was sent home on a nonsteroidal anti-inflammatory drug and spasmolytic. She returned 5 days later because of a lack of response. Magnetic resonance imaging of her neck revealed edema and inflammatory changes in the distal portion of her right SCM; an oral-systemic steroid was added to her treatment. However, she presented to the ED 3 days after her second visit with worsening symptoms. Her complaints of severe pain involving the right chest wall, development of fever, and the findings on imaging studies prompted the diagnosis of necrotizing soft-tissue infection and NF. She promptly underwent successful surgical debridement. Tissue cultures grew abundant Streptococcus agalactiae. Her antibiotics were readjusted and she was discharged to rehabilitation. Retrospective analysis of the case was notable for colposcopy with cervical biopsy and endocervical curettage for chronic cervicitis and low-grade squamous intraepithelial lesion within a week of her first ED visit. CONCLUSIONS NF caused by Streptococcus agalactiae should be suspected in patients who have had recent genitourinary/gastrointestinal procedures.
 ...
PMID:Streptococcus agalactiae-Induced Soft Tissue Infection in a Nonpregnant Adult After a Gynecological Procedure. 3268 Sep 80