Purpose To report the clinical characteristics of asymptomatic cases with RP1L1 gene mutations in four families with occult macular dystrophy (OMD). Methods Four asymptomatic cases from four families were selected from a cohort of 40 subjects (16 families) with RP1L1 pathogenic variants. Clinical data of the four asymptomatic cases and three symptomatic patients in the same families were revi...

BACKGROUND Low-glycemic index (GI) diet vs. high-GI diet improves glycemic control, but it is not clear whether a low-GI diet is superior to an optimized mixed diet (OMD). METHODS This was a 12-week parallel-group pilot-trial including 17 children with type 1 diabetes. A separate dietary education into the allocated diet (OMD vs. low-GI) was performed. Nutrition was recorded by means of a thr...

The transcription factor osterix (Sp7) is essential for osteoblastogenesis and bone formation in mice. Genome wide association studies have demonstrated that osterix is associated with bone mineral density in humans; however, the molecular significance of osterix in human osteoblast differentiation is poorly described. In this study we have characterized the role of osterix in human mesenchymal...

OBJECTIVES/HYPOTHESIS To review the long-term management of patients with oromandibular dystonia (OMD) treated using botulinum toxin. STUDY DESIGN Retrospective chart review at a clinical research center. METHODS Between 1995 and 2011, 59 patients with a diagnosis of OMD were treated with botulinum toxin. Data were collected on patient demographics, disease characteristics, and long-term tr...

Orofacial Myofunctional Disorders (OMDs) are disorders pertaining to the face and mouth and may affect, directly and indirectly, chewing1, swallowing2, 3, speech4, 5, 6, occlusion7, 8, 9, 10, temporomandibular joint movement11, 12, oral hygiene13, 14, stability of orthodontic treatment15, 16, 8, 17, facial esthetics18, 9, and facial skeletal growth19, 20. Orofacial Myofunctional Disorders may h...