Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation

Monocarboxylate transporter 8 (MCT8 or SLC16A2) is important for the neuronal uptake of triiodothyronine (T3) in its function as a specific and active transporter of thyroid hormones across the cell membrane, thus being essential for human brain development. We report on a German male with Allan-Herndon-Dudley syndrome presenting with severe intellectual and motor disability, paroxysmal dyskinesia combined with truncal muscular hypotonia, and peripheral muscular hypertonia at his current age of 9 years. Additionally, the patient has a lesion in the left putamen region revealed by magnetic resonance imaging and elevated serum T3 levels. The male appeared to have a hemizygous mutation (R271H) in the MCT8 gene that was sequenced directly from genomic DNA and occurred de novo in the maternal germline, as both his mother and his sister were not carriers of the mutation. Ruling out a common polymorphism, 50 normal individuals of the same ethnic background did not harbour the mutation. The identified MCT8 gene mutation (R271H) is very likely to be the genetic cause for neuronal hypothyroidism despite elevated serum T3 levels.

Predictors of temporary and permanent work disability in patients with inflammatory bowel disease: results of the swiss inflammatory bowel disease cohort study

BACKGROUND Inflammatory bowel disease can decrease the quality of life and induce work disability. We sought to (1) identify and quantify the predictors of disease-specific work disability in patients with inflammatory bowel disease and (2) assess the suitability of using cross-sectional data to predict future outcomes, using the Swiss Inflammatory Bowel Disease Cohort Study data. METHODS A total of 1187 patients were enrolled and followed up for an average of 13 months. Predictors included patient and disease characteristics and drug utilization. Potential predictors were identified through an expert panel and published literature. We estimated adjusted effect estimates with 95% confidence intervals using logistic and zero-inflated Poisson regression. RESULTS Overall, 699 (58.9%) experienced Crohn's disease and 488 (41.1%) had ulcerative colitis. Most important predictors for temporary work disability in patients with Crohn's disease included gender, disease duration, disease activity, C-reactive protein level, smoking, depressive symptoms, fistulas, extraintestinal manifestations, and the use of immunosuppressants/steroids. Temporary work disability in patients with ulcerative colitis was associated with age, disease duration, disease activity, and the use of steroids/antibiotics. In all patients, disease activity emerged as the only predictor of permanent work disability. Comparing data at enrollment versus follow-up yielded substantial differences regarding disability and predictors, with follow-up data showing greater predictor effects. CONCLUSIONS We identified predictors of work disability in patients with Crohn's disease and ulcerative colitis. Our findings can help in forecasting these disease courses and guide the choice of appropriate measures to prevent adverse outcomes. Comparing cross-sectional and longitudinal data showed that the conduction of cohort studies is inevitable for the examination of disability.

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity

We report two patients with microdeletions in chromosomal subdomain 15q26.1 encompassing only two genes, CHD2 and RGMA. Both patients present a distinct phenotype with intellectual disability, epilepsy, behavioral issues, truncal obesity, scoliosis and facial dysmorphism. CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients.

Medical Advisory Committee report and recommendations on the administration of the OASI disability freeze provision : preservation of rights of individuals with extended total disability, Social security amendments of l954.

"July 1955."

Manual of state employment security legislation. Supplement: Draft language with commentary for a state temporary disability insurance law coordinated with unemployment insurance.

Mode of access: Internet.

Remarks on the life and death of the fam'd Mr. Blood : giving an account [brace]of his plot in Ireland, to surprize Dublin Castle; several transactions in his head-quarters in the city; rescue of Captain Mason at Doncaster; attempt on the person of his Grace the Duke of Ormond; seizing on the crown and scepter in the Tower; coming into favour with his Prince; concern about his Grace the Duke of Buckingham; sickness, death, and twice interment : published for publick information.

Leaf A₂ mis-signed as A₁.

Register of officers and agents, civil, military, and naval, in the service of the United States, on the ... : showing the state or territory from which each person was appointed to office, the state or country in which he was born, and the compensation, pay, and emoluments allowed to each; together with the names and compensation of all printers in any way employed by Congress, or any department or officer of the government.

Description based on: 1863.

The Washington directory, showing the name, occupation, and residence, of each head of a family and person in business; the names of the members of Congress, and where they board; together with other useful information.

p. [143]-148, advertising matter.

The DOD Recruitment Program for Persons with Targeted Disabilities : we've put the disability behind us.

Shipping list no : 92-211-P.

A vade mecum for malt-worms: or, A guide to good fellows. Being a description of the manners and customs of the most eminent publick houses, in and about the cities of London and Westminster. With a hint on the props (or principal customers) of each house. In a method so plain that any thirsty person (of the meanest capacity) may easily find the nearest way from one house to another.

Mode of access: Internet.