A Case Series of Patients With Central Hypothyroidism From Oxcarbazepine Therapy.

Many medications can impact thyroid function. Antiseizure medications have been shown to disrupt thyroid function in adults, but information is limited about how antiseizure medications may affect thyroid function in children. Oxcarbazepine is an analog of carbamazepine designed to minimize effects from the hepatic P450 metabolic enzymes.

PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy.

Objective: To determine whether phosphodiesterase type 5 (PDE5) inhibition can alleviate exercise-induced skeletal muscle ischemia in boys with Duchenne muscular dystrophy (DMD).

Methods: In 10 boys with DMD and 10 healthy age-matched male controls, we assessed exercise-induced attenuation of reflex sympathetic vasoconstriction, i.e.

The MECP2 duplication syndrome.

In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder. MECP2 duplication syndrome is 100% penetrant in affected males and is associated with infantile hypotonia, severe to profound mental retardation, autism or autistic features, poor speech development, recurrent infections, epilepsy, progressive spasticity, and, in some cases, developmental regression. Most of the reported cases are inherited, however, de novo cases have been documented.

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Objective: There have been no objective assessments to determine whether boys with MECP2 duplication have autism or whether female carriers manifest phenotypes. This study characterizes the clinical and neuropsychiatric phenotypes of affected boys and carrier females.

Methods: Eight families (9 males and 9 females) with MECP2 duplication participated.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be generated by a non-homologous end joining (NHEJ) mechanism. We investigated the potential mechanisms for MECP2 duplication and examined whether genomic architectural features may play a role in their origin using a custom designed 4-Mb tiling-path oligonucleotide array CGH assay.