BACKGROUND Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosens...

Intestinal lymphangiectasia is a rare autosomal dominant disorder or acquired condition that leads to lymph obstruction, poor chyle transport, and concomitant problems of hypoproteinemia, lymphocytopenia, hypogammaglobulinemia, and peripheral edema. Patients develop diarrhea, steatorrhea, and hypocalcemia secondary to fat-soluble vitamin malabsorption. Treatment is a restrictive diet of low fat...

The purpose of this brief communication is to add a footnote to a paper published in this journal 19 years ago (Ottley, 1932) describing a family of which many members showed the hereditary condition named by Lobstein, who in 1833 gave the first account of it, osteopsathyrosis. The cardinal hair, and deficient formation of dental enamel. The hypothesis that the condition originates in an inheri...

Amelogenesis Imperfecta (AI) is a genetic disease affecting primary and permanent tooth enamel. The incidence varies between 1:700 to 1:4000. The clinical findings include enamel defects, tooth sensitivity, poor dental aesthetics, reduced vertical dimension, dentin dysplasia, and pulpal calcification. Effective treatment planning should incorporate numerous factors such as the patient’s age, di...

The prevalence of developmental defects of enamel (DDE) in the permanent dentition in developed countries has been reported to be in the range of 9–68 % and with no gender predilection. Several etiological factors have been implicated as being responsible for DDE in the permanent teeth. Although local, systemic, genetic or environmental factors have been attributed to DDE frequently they are li...

Amelogenesis features two major developmental stages-secretory and maturation. During maturation stage, hydroxyapatite deposition and matrix turnover require delicate pH regulatory mechanisms mediated by multiple ion transporters. Several members of the Slc26 gene family (Slc26a1, Slc26a3, Slc26a4, Slc26a6, and Slc26a7), which exhibit bicarbonate transport activities, have been suggested by pre...

Enamelin (ENAM) has three putative phosphoserines (pSers) phosphorylated by a Golgi-associated secretory pathway kinase (FAM20C) based on their distinctive Ser-x-Glu (S-x-E) motifs. Fam20C-knockout mice show severe enamel defects similar to those in the Enam-knockout mice, implying an important role of the pSers in ENAM. To determine the role of pSer55 in ENAM, we characterized ENAMRgsc514 mice...

OBJECTIVES The aim of this study was to determine the probable side effects of electrosurgery in pulpectomy of deciduous teeth on succedaneous teeth in dogs. MATERIALS AND METHODS In this animal study, all maxillary and mandibular teeth at one side of five puppies' mouths were treated employing electrosurgical pulpectomy and were then compared with those of the other side treated using the co...