Physiological and structural anorectal abnormalities in patients with systemic sclerosis and fecal incontinence.

Objective: Fecal incontinence is common in systemic sclerosis (SSc), but the underlying mechanisms are not fully understood. The objectives of this study were to characterize anorectal physiological and morphological defects in SSc patients and to correlate the results with incontinence symptoms.

Materials And Methods: Twenty-five SSc patients underwent anorectal neurophysiological investigations, anal manometry, and ultrasound.

Association between sociodemographic status and antiepileptic drug prescriptions in children with epilepsy.

Purpose: We investigated whether in Sweden sociodemographic differences are associated with access to expert health care and antiepileptic drug (AED) prescriptions in children with epilepsy.

Methods: Data on epilepsy, prescription of AEDs, and sociodemographic variables were obtained from several national administrative registers. We linked individual data to examine whether access by pediatric epilepsy patients to neuropediatricians and the prescription of individual AEDs differed according to gender, age, parental education, place of residence, parental region of birth, and household income.

Simplified evaluation of the paradoxical puborectalis contraction with surface electrodes.

Purpose: Paradoxical puborectalis contraction during defecation is one possible explanation for constipation. The degree of paradoxical contraction can be evaluated by intramuscular electromyography from the puborectalis and external anal sphincter muscles. This study aimed to determine whether a noninvasive technique with surface electrodes placed over the subcutaneous part of the external anal sphincter is feasible in the evaluation of paradoxical activity.

Frontotemporal dementia-amyotrophic lateral sclerosis complex is simulated by neurodegeneration with brain iron accumulation.

We describe a case of late onset neurodegeneration with brain iron accumulation (NBIA) presenting as frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS). A male patient presented at age 66 with change of personality: disinhibition, emotional blunting, and socially inappropriate behavior, coupled with dysarthria, dystonia, and corticospinal tract involvement. Magnetic resonance imaging showed general cortical atrophy, iron deposits in the globus pallidus, and the "eye of the tiger" sign.

Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family.

Familial hyperCKemia is a rare condition, and a combination with Duchenne muscular dystrophy (DMD) is extremely rare. A boy showed muscle weakness from the age of 10 months and presented typical signs of DMD at the age of 18 months. The diagnosis was supported by markedly elevated serum creatine kinase (CK) value as well as by neurophysiological and muscle biopsy findings at the age of 23 months.

Evaluation of the paradoxical sphincter contraction by a strain/squeeze index in constipated patients.

Purpose: One finding in patients with constipation is the paradoxical puborectalis contraction, i.e. , activation of the sphincter muscles during straining instead of relaxation.

Analysis of motor pathway involvement in konzo using transcranial electrical and magnetic stimulation.

To elucidate the involvement of motor pathways in konzo, 21 konzo subjects (mean age 22 years) underwent transcranial electrical stimulation (TES) in 1998. Fourteen konzo subjects (mean age 21 years) underwent transcranial magnetic stimulation (TMS) in 2000. Three subjects underwent both TES and TMS.