Search results for "abnormal"
showing 10 items of 761 documents
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…
Abnormal facilitatory mechanisms in motor cortex of migraine with aura
2010
Experimental evidence suggests impairment of inhibitory intracortical circuits in migraine, while not much is known about activity of facilitatory intracortical circuits. In the present work we evaluated the effects of high frequency-repetitive transcranial magnetic stimulation (hf-rTMS) on the activity of facilitatory circuits of motor cortex in 18 patients affected by migraine with aura and 18 healthy subjects. Trains of 10 stimuli were applied to the motor cortex at 5-Hz frequency with recording of the EMG traces from the contralateral abductor pollicis brevis muscle (APB). Two intensities of stimulation (110% and 130% of resting motor threshold) were used in order to explore whether mot…
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…
New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis
1994
To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1). © 1994 Wiley-Liss, Inc.
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 …
Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?
1985
Peroneal muscular atrophy is now known to be heterogeneous and to be due to various underlying genetic mechanisms. Exploring this heterogeneity further, we report on a German kinship with the clinical, genetic, and nerve conduction features of hereditary motor and sensory neuropathy type II (HMSN type II) but whose sural nerves on biopsy were found to show infrequent axonal swellings with neurofilament accumulations not previously described. The dominant inheritance and absence of kinky hair set this disorder apart from giant axonal neuropathy. There was no history of toxic exposure to industrial chemicals. We conclude that the disorder either is a new type of HMSN or is HMSN type II with p…
End-plate dysfunction in acute organophosphate intoxication.
1989
Acute organophosphate intoxication resulting from suicide attempts in 14 patients produced a series of electrophysiologic abnormalities that correlated with the clinical course. Spontaneous repetitive firing of single evoked compound muscle action potentials (CMAP) was the earliest and most sensitive indicator of the acetylcholinesterase inhibition. A decrement of evoked CMAP following repetitive nerve stimulation was the most severe abnormality. At the height of the intoxication no CMAP was evoked after the first few stimuli. The decrement-increment phenomenon occurred only at milder stages of intoxication and its features are characteristic of acetylcholinesterase inhibition. These electr…
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…
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.
2007
Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Proban…