Search results for " Abnormal"
showing 10 items of 597 documents
Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome)
1999
The genetic mucopolysaccharidosis syndromes (MPS) are autosomal recessive inborn errors of metabolism. Heart valve involvement in MPS is not uncommon but only a few case reports of successful cardiac surgery are available. In particular, reports of combined aortic and mitral stenosis associated with MPS type I-S are very rare. Both type I and type VI MPS are associated with significant left sided valvar heart disease that requires surgical valve replacement because of irregular valve thickening, fibrosis, and calcification. A 35 year old man had severe mitral valve stenosis after successful surgical replacement of a stenotic aortic valve. Valvar heart disease was investigated by cardiac ult…
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
2013
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare genic CNVs over one megabase (p = 1.48×10−3; odds ratio [OR] = 3.19; 95% confidence interval [CI] = 1.89–5.39). Rare genic CNVs were those that impacted at least one gene in less than 1% of the combined population of patients and controls. Compared to controls, significantly more AC…
Upper incisor to Soft Tissue Plane (UI-STP) : a new reference for diagnosis and planning in dentofacial deformities
2009
Planning in orthognathic surgery has been and still is an open issue. We have evolved from 2D classical cephalometric hard-tissue planning to 2D soft tissue planning, and finally to 3D and hard and soft tissue evaluation. This, to our knowledge, is the first description of a new Soft Tissue Plane (STP) and its relationship with the anterior position of the upper incisor (UI). Profile photographs of 110 ?attractive individuals? with lips at rest or smiling and with upper incisor shown were used. The photographs used were of 65 professional models from two international agencies and 45 individuals considered most attractive in the internet forums, which included catwalk models and actors. In …
Failure of endodontic treatment due to a palatal gingival groove in a maxillary lateral incisor with talon cusp and two root canals.
1990
A case is presented in which endodontic treatment of a maxillary lateral incisor with a talon cusp and two root canals failed following a mistaken diagnosis. What was first diagnosed as an endodontic lesion was, in all probability, a primary periodontal lesion caused by the advance of bacteria from the gingival crevice to the apex along the radicular groove between the main tooth and the talon cusp.
Push-and-Pull Enteroscopy Using the Double-Balloon Technique (Double-Balloon Enteroscopy) for the Diagnosis of Meckel's Diverticulum in Adult Patient…
2006
Meckel's diverticulum (MD) occurs in 2-3% of the population. Although the clinical, histopathologic, and radiologic features of the complications of MD are well known, the diagnosis may be difficult before surgery.Three patients (age 22-34 yr, two women) presenting with gastrointestinal (GI) bleeding of obscure origin underwent multiple endoscopic and radiologic tests including capsule endoscopy and Tc-99m pertechnetate scintigraphy before push-and-pull enteroscopy using a double-balloon technique (double-balloon enteroscopy). Double-balloon enteroscopy was performed in all three patients using oral and anal approaches to evaluate the entire intestine. In one case, MD was detected using the…
Association of Birth Weight With Foveolar Thickness in Adulthood: Results From a Population-Based Study
2021
Purpose Low birth weight (BW) is associated with alterations of foveal shape development in childhood—leading to an increased retinal thickness of the fovea. The aim of the present study was to assess whether BW has a long-term effect on foveal retinal thickness (RT) and is still present in adulthood. Methods In the German population-based Gutenberg Health Study (GHS), participants were examined with spectral-domain optical coherence tomography. The association between self-reported BW and RT in the foveolar and perifoveal locations was assessed. Multivariable linear regression analyses with adjustment for potential confounders and grading of foveal hypoplasia were performed. Results Overal…
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
2015
Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. Results Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential and abnormally elongated cilia. Investigation of disease pathophysiology revealed that Kiaa0556-/- null mice possess…
Investigation of the maxillary lateral incisor agenesis and associated dental anomalies in an orthodontic patient population
2011
CEYLAN, Ismail/0000-0002-8693-4175; KAMAK, HASAN/0000-0003-1910-3694 WOS: 000314401800025 PubMed: 22549676 Objectives: The aim of this study was to investigate the prevalence of maxillary lateral incisor (MLI) agenesis and associated dental anomalies as well as skeletal patterns in an orthodontic population, and then to compare it with the prevalence of these anomalies in the general population. Study Design: The material of the present study included the records of the 3872 orthodontic patients. The followings were recorded for each subject with the agenesis of MLI: Age, sex, unilateral or bilateral absence, anterior-posterior skeletal relationship of the maxilla and mandible, and presence…
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
Periodontal health and esthetic results in impacted teeth exposed by apically positioned flap technique.
2010
Objectives: This study evaluates the periodontal health status and the esthetic results of teeth subjected to orthodontic traction, after their exposure by an apically positioned flap. Study design: Fifteen patients were included in the study, ages between 11 and 28 years old. The fenestrated teeth and their homologous contralateral normally erupted teeth, used as control, were evaluated. Results: Statistically significant differences were found in the position of the gingival margin (p = 0.005), with an average distance between cemento-enamel junction (CEJ) and gingival margin of 2.47 mm (SD 1.19) in control teeth and of 1 mm (SD 1.31) in the operated teeth, and in the depth of palatal pro…