1/146. Morphological and cytogenetic studies on conjoined twins.Two cases of monoamniotic conjoined male twins, born at term after normal pregnancies, are reported. The first case, a bicephalus, shows hypoplastic and malformed left-side organs, absence of the left umbilical artery, and two communicating hearts, the left one with three cameras. The second case, a pygothoracopagus, consists in a twin "parasite", with no head but with two upper and two lower limbs, slightly less developed than those of the formed twin. The left eye of the formed twin is double than the right one and contains two eye apples -- one well-formed and the other rudimentary. There is a rudiment of a second mouth on the left cheek. The umbilical cord contains five blood vessels |
one umbilical vein and four umbilical arteries. The cytogenetic study of the pygothoracopagus reveals aneuploidy, more pronounced in the "parasite" than in the formed twin. |
2/146. Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of wolff-parkinson-white syndrome.INTRODUCTION: A familial form of wolff-parkinson-white syndrome (WPW) occurs in association with hypertrophic cardiomyopathy and intraventricular conduction abnormalities. This syndrome, demonstrating autosomal dominant inheritance and segregating with a high degree of penetrance but variable expressivity, has been genetically linked to chromosome 7q3. The purpose of this study is to detail the electrophysiologic characteristics of accessory atrioventricular connections (AC) in four members of a kindred with this syndrome. methods AND RESULTS: We clinically evaluated 32 members of a single kindred and identified 20 individuals with ventricular preexcitation, abnormal intraventricular conduction including complete AV block and/or ventricular hypertrophy. genetic linkage analysis mapped the disease gene in this kindred to the chromosome 7q3 locus (maximum logarithm of the odds score = 6.88, theta = 0); recombination events in affected individuals reduced the genetic interval from 7 centimorgans (cM) to 5 cM. Electrophysiologic study of four individuals with preexcitation, identified seven AC (1 right sided, 3 septal, and 3 left sided). All four individuals had inducible orthodromic tachycardia; while three had multiple AC. Bidirectional conduction was demonstrated in 6 of 7 AC. Successful ablation was accomplished in 5 of 7 AC. CONCLUSION: The electrophysiologic characteristics and location of AC in family members having this complex cardiac phenotype are similar to those seen in individuals with isolated WPW. Identification of WPW in more than one family member should prompt clinical evaluation of relatives for additional findings of ventricular hypertrophy or conduction abnormalities.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
3/146. prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping.A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a dna probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. spectral karyotyping (SKY) was performed in this prenatal case and led to a quick and accurate determination of the ESAC as chromosome 14 in origin. The SKY finding was confirmed by conventional FISH analysis using a chromosome 14 specific painting probe. Subsequent hybridizations with a centromeric probe and a 14q subtelomeric probe were also performed to further characterize the ESAC. Absence of (TTAGGG)n sequence on the ESAC, determined postnatally, suggested it is a ring chromosome 14. Genetic counselling concerning these findings was provided to the parents who chose to continue the pregnancy. The male infant had no apparent abnormal phenotype at birth.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
4/146. temporal bone histopathologic findings in a case of interstitial deletion of the long arm of chromosome 2 [del(2) (q31q33)].The temporal bones of a 24-day-old female neonate with an interstitial deletion of the long arm of chromosome 2 [del(2)(q31q33)] were studied histopathologically, focusing mainly on the inner ear. This is, to our knowledge, the first report of a temporal bone study in a case of this chromosomal aberration. The abnormalities included a shortened cochlea with underdeveloped modiolus in both ears. Total absence of the spiral ganglion cells and the cochlear nerve bundle, accompanied by obliteration of the fundus of the internal auditory meatus by a bony plate, and dislocation of some geniculate ganglion cells to the internal auditory meatus were also observed in the right ear. The absence of the spiral ganglion cells is considered to be the result of some complication in the early fetal life, such as dysgenesis or early degeneration of the neuronal cells. The organ of corti in the right ear was well-developed and preserved in the middle turn, suggesting that the differentiation of the cochlear sensory epithelium in humans is not dependent upon the innervation, at least on the gross level.- - - - - - - - - - ranking = 2.4419283559943keywords = nerve, organ (Clic here for more details about this article) |
5/146. Coexistence of inverted Y, chromosome 15p and abnormal phenotype.In this study, we report conventional and molecular cytogenetic studies in a patient with multiple anomalies who is a carrier of a pericentric inversion on chromosome Y and a chromosome 15p . His parents were phenotypically normal. The father is a carrier of a pericentric inversion of chromosome Y, and the mother carries a large chromosome 15p variant. The inverted y chromosome was demonstrated by GTG- and CBG-banding, and DAPI-staining. The presence of extra chromosomal material on the chromosome 15p, that was C-band and DAPI positive, was demonstrated by trypsin G-banding. This suggests that the extra chromosomal material contained repetitive dna sequences. NOR-staining indicated the presence a nuclear organizer region at the junction of the chromosome 15p material. fluorescence in situ hybridization (FISH), with chromosome X and Y painting probes, alpha- and classic-satellite probes specific for chromosome Y, alpha- and beta-satellite III probes for chromosome 15 were used to elucidate the nature of both the inverted y chromosome and chromosome 15p . The result with chromosome X and Y painting probes, alpha-satellite, classic-satellite, and DYS59 probes specific for chromosome Y revealed the rearrangement of the y chromosome was an inv(Y)(p11.2q11.22 or q11.23). FISH with alpha-satellite and beta-satellite III probes for chromosome 15 demonstrated that the extra chromosomal material on the chromosome 15 probably represents beta-satellite III sequences. The possible roles of the simultaneous occurrence of an inverted Y and the amplified dna sequence on chromosome 15p in the abnormal phenotype of the proband are discussed.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
6/146. Neuroaxonal dystrophy with dystonia and pallidal involvement.Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive disease of infantile onset, characterised by progressive clinical course, multi-systemic involvement and widespread presence of dystrophic axons in both the central and peripheral nervous system. Clinical, neurophysiological and neuroradiological criteria of the disease are established, but the occurrence of atypical cases is known. Since the availability of molecular markers is still lacking, diagnostic evidence in vivo is provided by the presence of specific axonal lesions distally in the peripheral nerve fibres. In two children who had a protracted course of the disease with dystonic postures of the upper limbs and showed dystrophic axons following sural nerve biopsy, bilateral pallidal hypointensity was observed after T2-weighted MRI scans. These findings are consistent with iron deposition, and are usually observed in Hallervorden-Spatz syndrome (HSS), a condition which is also characterised by dystrophic axons diffusely present in the central nervous system, but without peripheral nervous system involvement. These observations raise the issue of different phenotypes of INAD, and are consistent with the existence of intermediate forms between INAD and HSS. Altered mechanisms of iron storage and transport to and from the cellular compartments may play a role in the pathogenesis of the disease.- - - - - - - - - - ranking = 2.8838567119885keywords = nerve (Clic here for more details about this article) |
7/146. chediak-higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.chediak-higashi syndrome (CHS) is a rare autosomal recessive disorder (incidence around 1 in 106 births), characterised by a complex immunologic defects, reduced pigmentation, and presence of giant granules in many different cell types. It most likely results from defective organellar trafficking or protein sorting. The causative gene (LYST) has recently been identified and shown to be homologous to the beige locus in the mouse. CHS has always been reported associated with premature-termination-codon mutations in both alleles of LYST. We report a unique patient with CHS, who was homozygous for a stop codon in the LYST gene on chromosome 1 and who had a normal 46,XY karyotype. The mother was found to be a carrier of the mutation, whereas the father had two normal LYST alleles. Non-paternity was excluded by the analysis of microsatellite markers from different chromosomes. The results of 13 informative microsatellite markers spanning the entire chromosome 1 revealed that the proband had a maternal isodisomy of chromosome 1 encompassing the LYST mutation. The proband's clinical presentation also confirms the absence of imprinted genes on chromosome 1.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
8/146. Neurosurgical implications of carney complex.OBJECT: The authors present their neurosurgical experience with carney complex. carney complex, characterized by spotty skin pigmentation, cardiac myxomas, primary pigmented nodular adrenocortical disease, pituitary tumors, and nerve sheath tumors (NSTs), is a recently described, rare, autosomal-dominant familial syndrome that is relatively unknown to neurosurgeons. neurosurgery is required to treat pituitary adenomas and a rare NST, the psammomatous melanotic schwannoma (PMS), in patients with carney complex. Cushing's syndrome, a common component of the complex, is caused by primary pigmented nodular adrenocortical disease and is not secondary to an adrenocorticotropic hormone-secreting pituitary adenoma. methods: The authors reviewed 14 cases of carney complex, five from the literature and nine from their own experience. Of the 14 pituitary adenomas recognized in association with carney complex, 12 developed growth hormone (GH) hypersecretion (producing gigantism in two patients and acromegaly in 10), and results of immunohistochemical studies in one of the other two were positive for GH. The association of PMSs with carney complex was established in 1990. Of the reported tumors, 28% were associated with spinal nerve sheaths. The spinal tumors occurred in adults (mean age 32 years, range 18-49 years) who presented with pain and radiculopathy. These NSTs may be malignant (10%) and, as with the cardiac myxomas, are associated with significant rates of morbidity and mortality. CONCLUSIONS: Because of the surgical comorbidity associated with cardiac myxoma and/or Cushing's syndrome, recognition of carney complex has important implications for perisurgical patient management and family screening. Study of the genetics of carney complex and of the biological abnormalities associated with the tumors may provide insight into the general pathobiological abnormalities associated with the tumors may provide insight into the general pathobiological features of pituitary adenomas and NSTs.- - - - - - - - - - ranking = 2.8838567119885keywords = nerve (Clic here for more details about this article) |
9/146. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion.Human male infertility is often related to chromosome abnormalities. In chromosomally normal infertile males, the rates of chromosome 21 and sex chromosome disomy in spermatozoa are increased. Higher incidences of trisomy 21 (seldom of paternal origin) and sex chromosome aneuploidy are also found. XXY and XYY patients produce increased numbers of XY, XX and YY spermatozoa, indicating an increased risk of production of XXY, XYY and XXX individuals. Since XXYs can reproduce using intracytoplasmic sperm injection (ICSI), this could explain the slight increase of sex chromosome anomalies in ICSI series. Carriers of structural reorganizations produce unbalanced spermatozoa, and risk having children with duplications and/or deficiencies. In some cases, this risk is considerably lower or higher than average. These patients also show increased diploidy, and a higher risk of producing diandric triploids. Meiotic disorders are frequent in infertile males, and increase with severe oligoasthenozoospemia (OA) and/or high follicle stimulating hormone (FSH) concentrations. These patients produce spermatozoa with autosomal and sex chromosome disomies, and diploid spermatozoa. Their contribution to recurrent abortion depends on the production of trisomies, monosomies and of triploids. The most frequent sperm chromosome anomaly in infertile males is diploidy, originated by either meiotic mutations or by a compromised testicular environment.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
10/146. Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive disorder, is characterized by insensitivity to pain, self-mutilating behaviour, anhidrosis and recurrent hyperpyrexia. It is a hereditary sensory and autonomic neuropathy, also classified as HSAN, due to a defect of the receptor for nerve growth factor. CIPA is the first human genetic disorder caused by a defect in the neurotrophin signal transduction system. This is the first clinical report of CIPA patients characterized on molecular grounds. The clinical phenotypes of our patients show that CIPA is characterized by a multisystem involvement besides the nervous system, including bone fracture with slow healing, immunologic abnormalities, such as low response to specific stimuli, chronic inflammatory state ending in systemic amyloidosis. The molecular characterization allows a better understanding of most of the clinical features.- - - - - - - - - - ranking = 7.2096417799713keywords = nerve (Clic here for more details about this article) |
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