Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Hedera”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 145 records · Page 8Linked to original sources
PubMed2003

Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.

We report a patient with severe mental retardation (MR), microcephaly, Dandy-Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, including Y-shaped metacarpals and urogenital abnormalities. High-resolution karyotype and subtelomeric fluorescence in situ hybridization were normal. We propose that his clinical picture is most consistent with Juberg-Hayward or orocraniodigital syndrome. Several clinical features present in our patient (unilateral distal displacement of elbow position, second-site radioulnar synostosis, bilateral Y-shaped metacarpal, lobular tongue, hypertrophic frenuli, Dandy-Walker malformation) have not previously been reported in this condition, thus expanding the phenotypic spectrum of this rare condition. The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes.

Adolescent↗
PubMed2003

Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance.

Oculo-facio-cardio-dental syndrome (OFCD) is an uncommon multiple congenital anomaly syndrome that is characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects, and dental anomalies including canine radiculomegaly and oligodontia. Although most cases of OFCD are sporadic, since all reported OFCD individuals have been female, it has been suggested that OFCD is an X-linked dominant trait. Here we report two affected female patients with OFCD, a mother and daughter, who both had congenital cataracts, microphthalmia, characteristic dental anomalies, and typical facial dysmorphisms. These features were diagnostic for OFCD; thus, these cases represent the second documented instance of mother-to-daughter OFCD transmission. In addition to the clinical features typically seen in OFCD individuals, the affected daughter exhibited several additional congenital anomalies including intestinal malrotation and hypoplastic thumbs. Thus, these cases further define and expand the OFCD clinical phenotype. These two individuals also displayed a skewed pattern of X chromosome inactivation. Together, these data strongly support the hypothesis that OFCD is inherited as an X-linked dominant condition.

Abnormalities, Multiple↗
PubMed2004

Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome.

We have studied two unrelated boys with isolated left mirror hand and ulnar duplication. Neither had facial anomalies and family histories were unremarkable. We suggest that these boys have segmental Laurin-Sandrow syndrome, or mirror-image duplication, due to somatic mutation involving precursor cells of the left upper limb and that the facial and digital abnormalities in Laurin-Sandrow syndrome are consistent with ectopic anterior hedgehog signaling in the developing limb bud and in the maxillary processes of the face, which closely resemble findings in the Doublefoot (Dbf) mouse mutant.

Abnormalities, Multiple↗
PubMed2002

Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.

We evaluated a kindred with X-linked mental retardation and epilepsy. Seven affected males with mild to moderate mental retardation developed seizures (primarily generalized, tonic-clonic, and atonic) that began on average at 6.8 months of age (range, 4 to 14 months). These patients did not have a history of infantile spasms. There were no dysmorphic features. Other than mental retardation, the neurological examination was unremarkable, with exception of 2 affected subjects who had mild generalized rigidity and ataxia. We identified tight linkage to a group of markers on Xp21.1-p11.4. A maximum two-point LOD score of +3.83 at straight theta = 0 was obtained for markers DXS8090, DXS1069, DXS8102, and DXS8085. This locus spans 7.7cM between DXS1049 and DXS8054 and does not overlap the locus for X-linked West syndrome. The tetraspanin gene, implicated in nonspecific mental retardation, is mapped to this region. We sequenced the tetraspanin coding sequence in subjects with X-linked mental retardation and epilepsy and did not identify disease-specific mutations. The syndrome we describe, designated X-linked mental retardation and epilepsy, is clinically and genetically distinct from X-linked West syndrome and other X-linked mental retardation-epilepsy syndromes.

Adolescent↗
PubMed2000

Treatment of Wilson's disease with zinc. XVII: treatment during pregnancy.

Therapy of Wilson's disease continues to evolve. In 1997, zinc acetate was added to the list of drugs approved by the Food and Drug Administration, which includes penicillamine and trientine. The mechanism of zinc's anticopper action is unique. It induces intestinal cell metallothionein, which binds copper and prevents its transfer into blood. As intestinal cells die and slough, the contained copper is eliminated in the stool. Thus, zinc prevents the intestinal absorption of copper. It is universally agreed that pregnant Wilson's disease patients should remain on anticopper therapy during pregnancy. There are numerous reports of such patients stopping penicillamine therapy to protect their fetus from teratogenicity, only to undergo serious deterioration and even death from renewed copper toxicity. Penicillamine and trientine have teratogenic effects in animals, and penicillamine has known teratogenic effects in humans. In this report we discuss the results of 26 pregnancies in 19 women who were on zinc therapy throughout their pregnancy. The evidence is good that zinc protects the health of the mother during pregnancy. Fetal outcomes were generally quite good, although one baby had a surgically correctable heart defect and one had microcephaly.

Adult↗
PubMedDate not supplied

Assessment of cerebral blood flow reserve using functional magnetic resonance imaging.

Imaging of activated brain areas based on changes of blood deoxyhemoglobin levels is now possible with MRI. Acetazolamide (ACZ) increases cerebral blood flow (CBF) without changing cerebral oxygen consumption; this results in signal changes observed in gradient echo MR images from the areas with an increase in CBF. We assessed signal changes after ACZ application in seven healthy subjects with a conventional 1.5-T MRI scanner. The susceptibility-sensitized three-dimensional fast low-angle shot (FLASH) sequence was used to visualize signal changes induced by ACZ. We analyzed anatomic localization of different ranges of detected signal changes. ACZ caused significant signal changes in the gray matter and at the edge of the cerebral cortex, the latter corresponding to draining surface veins. No significant differences were seen among different brain areas within the same slice. Using the maximal intensity projection technique, we were able to partially separate signal changes originating in draining veins from signal originating in the gray matter microvasculature. Signal changes from the microvessels reflect cerebrovascular reserve. Blood-oxygen-level-dependent (BOLD) based MRI can evaluate CBF reserve with high spatial and temporal resolution. To assess cerebrovascular reserve, it is necessary to separate signal changes originating in large vessels from signal from brain microvasculature.

Acetazolamide↗
PubMed2005

Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.

We describe the clinical features of a brother and sister with non-dopa-responsive, childhood-onset, generalized dystonia. The children were born to consanguineous parents, had no family history of neurologic disease, no evidence of structural or metabolic causes of dystonia, and negative testing for the GAG946 deletion mutation in the DYT1 gene. This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2).

Child↗
PubMed2006

Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?

A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not entirely a genetic disorder. Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET. There is also evidence for further genetic heterogeneity. We evaluated 4 unrelated large kindreds with ET with an apparent AD mode of transmission. Each kindred spanned at least 3 generations and contained at least 13 living affected subjects who met criteria for definitive ET. None of the pedigrees had evidence for inheritance of ET from both parents. Known genetic ET loci were excluded in these families. We detected a preferential transmission of ET in every kindred and the proportion of affected offspring varied from 75% to 90% (P < 0.05) in the generations with complete ascertainment. Our data indicate that non-Mendelian preferential transmission of an affected allele is a feature in many ET kindreds with multiple affected members and an apparent AD mode of inheritance. ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors.

Adolescent↗
PubMed1993

Identification of vascular structures as a major source of signal contrast in high resolution 2D and 3D functional activation imaging of the motor cortex at 1.5T: preliminary results.

We have measured the T2* signal response associated with cortical activation due to finger motion at 1.5 Tesla. Both thin slice 2D and 3D images show signal intensity changes which vary from 2% to 32% depending on volunteer, echo time, slice thickness, and in-plane resolution. The largest signal change occurred for the thinnest slices and highest resolution (2 mm3). This is consistent with reducing partial volume effects and a simple difference in phase between the intravascular signal and surrounding parenchyma. No inflow enhancement was seen on the 2D or 3D scans, confirming the nature of the signal difference for this approach was due to local field inhomogeneity effects. Using 3D imaging, multiple effects can be seen simultaneously. With a 3D MRA method, it was possible to locate the vessel that was the source of the T2* behavior; it was in each case a vein on the surface of the cortical parenchyma.

Brain↗
PubMed1994

2D and 3D high resolution gradient echo functional imaging of the brain: venous contributions to signal in motor cortex studies.

Recent emphasis on high resolution gradient echo studies in functional imaging has led to the conclusion that there are likely three domains of response to the blood circulation in the brain when considering field inhomogeneity effects of the venous blood pre- and during activation. The first is a coherent effect due to large or macroscopic vessels on the order of the size of the voxel (ca 200-500 microns in most studies). These can lead to very large signal changes (up to 100%). The second is at the venule level (ca 50-200 microns) and is associated with smaller parenchymal changes (usually ca 10% or less). The third is at the capillary level and is associated with much smaller signal changes at 1.5 T and even up to 4 T. The actual signal changes depend on field strength and sequence design. In this paper, we present our experience in detecting the first two domains with 2D and 3D gradient echo imaging at 1.5 T. We find that high resolution enables visualization of the larger small veins in motor cortex studies and that, on occasion, it is possible to see the venule effects as well. We suggest a simple model to explain the large signal changes based on susceptibility changes and partial volume effects. Comparisons of the functional imaging data to this model and to MR angiographic studies are also shown as evidence of the venous sources of the susceptibility changes.

Brain↗
PubMed2005

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower extremity weakness and spasticity. HSP pathology involves axonal degeneration that is most pronounced in the terminal segments of the longest descending (pyramidal) and ascending (dorsal columns) tracts. In this study, we compared spinal cord magnetic resonance imaging (MRI) in 13 HSP patients with four different types of autosomal dominant hereditary spastic paraplegia (SPG3A, SPG4, SPG6, and SPG8) with age-matched control subjects. The cross-section area of HSP subjects at cervical level C2 was 59.42 +/- 12.57 mm2 and at thoracic level T9 was 28.58 +/- 5.25 mm2. Both of these values were less than in the healthy controls (p < 0.001). The degree of cord atrophy was more prominent in patients with SPG6 and SPG8 who had signs of severe cord atrophy (47.60 +/- 6.58 mm2 at C2, 21.40 +/- 2.4 mm2 at T9) than in subjects with SPG3 and SPG4 (66.0 +/- 8.94 mm2 at C2, p < 0.02; 31.75 +/- 2.76 mm2 at T9, p < 0.001). These observations indicate that spinal cord atrophy is a common finding in the four genetic types of HSP. Spinal cord atrophy was more severe in SPG6 and SPG8 HSP subjects than in other types of HSP we studied. This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations.

Adult↗
PubMed2006

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

Autosomal dominant hereditary spastic paraplegia (AD HSP) linked to chromosome 12q (SPG10) is caused by mutations in the neuronal kinesin heavy-chain KIF5A gene. This is a rare cause of AD HSP, and only two disease-causing mutations have been reported thus far. In both instances, affected individuals harboring mutations in the KIF5A gene displayed symptom onset at a very early age. Here we present the results of clinical and genetic analyses of a large kindred with uncomplicated AD HSP. We were able to establish a definitive linkage to the SPG10 locus, and sequencing of the KIF5A gene revealed a heterozygous missense mutation 1,035 A>G in exon 10, resulting in tyrosine-to-cysteine substitution. This mutation is located in a highly conserved kinesin motor domain of the neuronal kinesin heavy-chain protein, but in contrast to two previously reported missense mutations, the age of symptom onset in our family was much later, with an average age of 36.1+/-4 years. Our results demonstrate that mutations in the KIF5A gene can also be associated with an adult age of onset of AD HSP.

Adult↗
PubMed1995

Concurrence of Alzheimer's disease, Parkinson's disease, diffuse Lewy body disease, and amyotrophic lateral sclerosis.

A 71-year-old man developed signs of progressive dementia, followed by extrapyramidal and motor neuron disease symptoms, which led to death in 6 years. Neuropathological examination revealed neuritic plaques, neurofibrillary tangles, and Lewy bodies in the substantia nigra and neocortex. Atrophy and gliosis with intraneuronal ubiquitin inclusions were present in the anterior horns of the spinal cord. Overlapping of Alzheimer's disease, Parkinson's disease, diffuse Lewy body disease and amyotrophic lateral sclerosis is rare and can increase our understanding of the process of neurodegeneration.

Aged↗
PubMed1995

Influence of extreme head rotations on brainstem auditory evoked potentials (BAEP).

The influence of extreme head rotations on BAEP was studied in 47 patients who had vertebral artery angiogram. Patients with and without unilateral hypoplasia of the vertebral artery (VA) lumen were identified and all patients were further divided into two groups: with and without hypertension. The subjects underwent a BAEP examination in three head positions: neutral position, extreme right and extreme left rotation. In the subgroup of patients with hypertension and unilateral VA hypoplasia, and following the rotation away from the non-hypoplastic vessel a statistically significant decrease in the PV wave amplitude and prolonged PV wave latency was found. Head maneuvers in subjects with normal blood pressure or in hypertensive patients with symmetrical VA did not cause significant changes in BAEP. These results document the effect of head rotation in subjects with potentially impaired collateral flow. An increase in the PV wave latency and decrease in its amplitude may reflect subtle changes in the brainstem perfusion in hypertensive patients. These changes maybe due to a reduced capacity to compensate for dynamic obstruction of VA following the head rotations.

Adult↗