Epidemiologic and clinical features of hidradenitis suppurativa.

Hidradenitis suppurativa (HS) is an inflammatory condition characterized by recurrent abscesses which may result in sinus tracts and dermal scarring. This article reviews current epidemiologic data on HS in diverse populations, including prevalence based on geography, age, gender, ethnicity, and details the spectrum of clinical features of hidradenitis suppurativa with discussion of disease severity and risk factors. Recently proposed HS diagnostic criteria are also presented.

Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.

Purpose: Periventricular nodular heterotopia (PVNH) is a malformation of cortical development due to impaired neuronal migration resulting in the formation of nodular masses of neurons and glial cells in close proximity to the ventricular walls. We report the clinical characteristics of the largest case series of FLNA-negative patients with seizures and bilateral periventricular heterotopia.

Methods: Participants were recruited through the Epilepsy Phenome/Genome Project (EPGP), a multicenter collaborative effort to collect detailed phenotypic data and DNA on a large number of individuals with epilepsy, including a cohort with symptomatic epilepsy related to PVNH.

Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project.

Purpose: Polymicrogyria (PMG) is an epileptogenic malformation of cortical development. We describe the clinical epilepsy and imaging features of a large cohort with PMG-related epilepsy.

Methods: Participants were recruited through the Epilepsy Phenome/Genome Project, a multicenter collaborative effort to collect detailed phenotypic data on individuals with epilepsy.

Predictors of seizure occurrence in children undergoing pre-surgical monitoring.

Purpose: Long-Term-Monitoring (LTM) is a valuable tool for seizure localization/lateralization among children with refractory-epilepsy undergoing pre-surgical-monitoring. The aim of this study was to examine the factors predicting occurrence of single/multiple seizures in children undergoing pre-surgical monitoring in the LTM unit.

Methods: Chart review was done on 95 consecutive admissions on 92 children (40 females) admitted to the LTM-unit for pre-surgical workup.

Dicer inactivation in osteoprogenitor cells compromises fetal survival and bone formation, while excision in differentiated osteoblasts increases bone mass in the adult mouse.

MicroRNA attenuation of protein translation has emerged as an important regulator of mesenchymal cell differentiation into the osteoblast lineage. A compelling question is the extent to which miR biogenesis is obligatory for bone formation. Here we show conditional deletion of the Dicer enzyme in osteoprogenitors by Col1a1-Cre compromised fetal survival after E14.