Search results for "RECESS"
showing 10 items of 379 documents
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
2001
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.
Two new cases of Thrombocytopenia Absent Radius (TAR) syndrome: Clinical, Genetic and Nosologic Features
1988
Two unrelated children affected by TAR syndrome, autosomic recessive disease with congenital thrombocytopenia and bilateral radial aplasia, are described. In the first case a mild thrombocytopenia has been compatible with a fairly normal life until the second year of age. The other child shows radial aplasia associated with other anomalies of the upper limbs, severe thrombocytopenia and leukemoid reaction. The relationship among TAR syndrome, Fanconi's anemia and Roberts' syndrome are briefly discussed.
Periodontal Treatment with an Er:YAG Laser or Scaling and Root Planing. A 2-Year Follow-Up Split-Mouth Study
2003
Non-surgical periodontal treatment with an Er:YAG laser has been shown to result in significant clinical attachment level gain; however, clinical results have not been established on a long-term basis following Er:YAG laser treatment. Therefore, the aim of the present study was to present the 2-year results following non-surgical periodontal treatment with an Er:YAG laser or scaling and root planing.Twenty patients with moderate to advanced periodontal destruction were treated under local anesthesia, and the quadrants were randomly allocated in a split-mouth design to either 1) Er:YAG laser (ERL) using an energy level of 160 mJ/pulse and 10 Hz, or 2) scaling and root planing (SRP) using han…
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deaf…
1993
Two sibs, whose parents are first cousins, had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Both patients had pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman had secondary amenorrhea and polycystic ovaries and the boy gynecomastia and hypergonadotrophic hypogonadism. This appears to be the second family with a new autosomal recessive disorder differing from Alstrom syndrome by the presence of mental retardation and absence of renal insufficiency. Impaired insulin rec…
Spontaneous cerebrospinal fluid rhinorrhea: A clinical and anatomical study
2010
Objectives/Hypothesis: Spontaneous nasal cerebrospinal fluid (CSF) fistula represents a rare clinical entity. The possible etiology and the localization of the rhinorrhea remain an ongoing clinical challenge. The purpose of this study was to evaluate the localization of spontaneous CSF fistula and to correlate it with anatomical studies. Study Design: Retrospective clinical study, prospective anatomical study. Methods: Twenty-nine patients with spontaneous CSF rhinorrhea were retrospectively studied, 10 males and 19 females. Ages ranged from 10 to 92 years (mean, 50 years). In addition, 48 human skulls from newborns to adults were examined for the postnatal development of the anterior and m…
The effect of postsurgical administration of a selective cyclo-oxygenase-2 inhibitor on the healing of intrabony defects following treatment with ena…
2003
Regenerative treatment with enamel matrix proteins (EMD) has been shown to promote regeneration in intrabony periodontal defects. However, up to now various postoperative regimens such as the routine administration of nonsteroidal anti-inflammatory drugs (NSAIDs) were often used in combination with enamel matrix proteins. Therefore, it cannot be excluded that the results might have been influenced by the effect of the postoperative medication. The aim of this randomized, controlled, blinded, clinical investigation was to determine the effect of postsurgical administration of a selective cyclo-oxygenase-2 inhibitor on the healing of intrabony periodontal defects following regenerative period…
The parkin gene is not a major susceptibility locus for typical late-onset Parkinson's disease
2001
We investigated the parkin gene in 118 patients with typical Parkinson's disease (PD), i. e. in patients who had an onset of PD after the age of 45 years. The study group included 95 subjects with sporadic PD and 23 subjects from 18 families with autosomal recessive PD. No pathogenetic mutations in the parkin gene were detected either in familial or in sporadic patients. Our findings indicate that the parkin gene is not involved in the pathogenesis of classic late-onset PD.
The Jervell and Lange-Nielsen syndrome.
1991
Deafness and electrocardiographic changes (prolongation of the Q-T interval and inversion of the T wave) with a clinical picture of syncopal attacks and sudden death, were described as a distinct syndrome by Jervell and Lange-Nielsen in 1957. The syndrome is inherited as an autosomal recessive trait. In this study, all the cases reported since 1957 and their proposed prevalence are reviewed. The authors describe the 4 cases they have studied, all of which presented congenital sensorineural hearing loss and electrocardiographic changes characteristic of the syndrome. The relatively high number of cases they have encountered casts doubt on literature that states that the syndrome occurs more …
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
2004
Repeated occurrence of a hitherto unrecognized form of spondyloepiphyseal dysplasia tarda (SED tarda) has been studied in two independent families. Because parental consanguinity was also present in one family, autosomal recessive inheritance is proposed. The onset was in late childhood. The slowly evolving disorder shared several features of the already known types of SED tarda. The radiographic abnormalities were limited to the spine and proximal femora. The patients' hands were normal. The entity described is set apart not only from the X-linked and autosomal-dominant forms of SED tarda but also from the already delineated autosomal recessive types by significant clinical and radiographi…
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family
1995
A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unus…