Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.

encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental delay, lactic acidosis, and encephalopathy. Twenty-one patients have been described so far.

Craniofacial growth patterns in patients with congenitally missing permanent teeth.

Objective: Aim of this study was to investigate any correlations between the congenital absence of certain permanent teeth and individual craniofacial growth patterns.

Material And Methods: The lateral cephalograms of n = 101 patients (65 female und 36 male) with various congenitally missing teeth were analyzed according to Hasund [11] prior to orthodontic treatment. Cephalometric data to determine the craniofacial growth pattern comprised GntgoAr, NSBa, ML-NSL, NL-NSL, MLNL angles and the index between upper and lower facial heights.

Molar inclination in panoramic x-rays as an indicator for extraction decisions.

Objective: Recommendations concerning the necessity of extraction therapy are often based upon clinical findings and panoramic x-rays. Since the success of this approach greatly depends on the individual examiner's clinical expertise, we believed it to be of interest to evaluate whether panoramic x-ray findings alone suffice for making the decision to extract. The aim of this study was to evaluate whether the need for extraction therapy can be verified by measuring the angulations between the first and second lower molars.

Health-related quality of life in hereditary hemorrhagic telangiectasia.

Objective: To assess and differentiate the health-related quality of life (HR-QoL) in patients with hereditary hemorrhagic telangiectasia (HHT).

Study Design And Setting: A prospective, open, cross-sectional questionnaire-based study (including the Short Form-36 Health Survey [SF-36]) performed by a tertiary care center.

Results: A total of 77 patients (36 females) were included.

New anisotropic ceramic membranes from chemically fixed dissipative structures.

The formation of highly ordered capillaries in alginate gels is due to a dissipative convective process resulting from opposing diffusion gradients and friction. Ceramic membranes with an anisotropic pore structure have been gained from this self-organization process by incorporating inorganic particles into the gel matrix, followed by subsequent ion exchange, drying, and sintering. The aim of this study was to overcome existing preparative deficiencies and to optimize the capillary structure and surface properties with respect to specific technical applications.

The promotion of oriented axonal regrowth in the injured spinal cord by alginate-based anisotropic capillary hydrogels.

Appropriate target reinnervation and functional recovery after spinal cord injury depend on longitudinally directed regrowth of transected axons. To assess the capacity to promote directed axon regeneration, alginate-based highly anisotropic capillary hydrogels (ACH) were introduced into an axon outgrowth assay in vitro and adult rat spinal cord lesions in vivo. In an entorhino-hippocampal slice culture model, alginate-based scaffolds elicit highly oriented linear axon regrowth and appropriate target neuron reinnervation.

Protecting nanoscaled non-oxidic particles from oxygen uptake by coating with nitrogen-containing surfactants.

To suppress the reactivity of nanoscaled non-oxidic powders of titanium nitride (TiN) and silicon carbonitride (SiCN) against hydrolysis and oxidation, chemical surface modification with nitrogen-containing surfactants was investigated. Among these surfactants, long-chain primary amines, ethylenediamines, guanidines, nitriles, isocyanates, and succinimides were examined. Thermogravimetry, elemental analysis, and behavior against the water-vapor adsorption of the modified particles were used as methods to estimate the protective capacity of the organic coating material.

Cloning, characterization and expression of the polypeptide release factor gene, eRF1, of Blepharisma japonicum.

The polypeptide release factor gene, eRF1, of Blepharisma japonicum (Bj-eRF1) was cloned and sequenced. Its coding region was 1314 base pairs and encodes a protein of 437 amino acids. The cloned gene was expressed in Escherichia coli and the recombinant Bj-eRF1 polypeptide was purified by Ni2+-nitrilotriacetic acid agarose and Superose12 chromatography.

Preliminary X-ray crystallographic analysis of ciliate Euplotes octocarinatus release factor eRF1a.

eRF1a, one of the class-I release factors from ciliate Euplotes octocarinatus, has been crystallized by the vapor-diffusion method using polyethylene glycol 4000 as the precipitant at pH 7.5. The crystal belongs to space group P2(1) and the unit-cell parameters are a=90.

Programmed translational frameshifting is likely required for expressions of genes encoding putative nuclear protein kinases of the ciliate Euplotes octocarinatus.

Three macronuclear genes encoding putative nuclear protein kinases of the ciliate Euplotes octocarinatus syngen 1 were isolated and sequenced. All three deduced gene products share significant properties with a group of recently identified nuclear serine/threonine protein kinases named Ndr. The three predicted proteins contain the twelve conserved catalytic subdomains of protein kinases and 22 near universally-conserved amino acids residues that are characteristic of serine/threonine protein kinases.

Analysis of micronuclear, macronuclear and cDNA sequences encoding the regulatory subunit of cAMP-dependent protein kinase of Euplotes octocarinatus: evidence for a ribosomal frameshift.

We have isolated and characterized the micronuclear gene encoding the regulatory subunit of cAMP-dependent protein kinase of the ciliated protozoan Euplotes octocarinatus, as well as its macronuclear version and the corresponding cDNA. Analyses of the sequences revealed that the micronuclear gene contains one small 69-bp internal eliminated sequence (IES) that is removed during macronuclear development. The IES is located in the 5'-noncoding region of the micronuclear gene and is flanked by a pair of tetranucleotide 5'-TACA-3' direct repeats.

Vascular abnormalities in reflex sympathetic dystrophy (CRPS I): mechanisms and diagnostic value.

Complex regional pain syndrome type I (CRPS I, formerly known as reflex sympathetic dystrophy) is a painful neuropathic disorder that develops after trauma affecting the limbs without overt nerve injury. Clinical features are spontaneous pain, hyperalgesia, impairment of motor function, swelling, changes in sweating, and vascular abnormalities. In this study, the pathophysiological mechanisms of vascular abnormalities were investigated.

The ciliate Euplotes octocarinatus expresses two polypeptide release factors of the type eRF1.

Amplification of macronuclear DNA of the ciliate Euplotes octocarinatus revealed the presence of two genes encoding putative polypeptide release factors (RFs) of the codon specific class-I type. They are named eRF1a and eRF1b, respectively. cDNA amplification revealed that both eRF1 genes are expressed.

Molecular mechanism of stop codon recognition by eRF1: a wobble hypothesis for peptide anticodons.

We propose that the amino acid residues 57/58 and 60/61 of eukaryotic release factors (eRF1s) (counted from the N-terminal Met of human eRF1) are responsible for stop codon recognition in protein synthesis. The proposal is based on amino acid exchanges in these positions in the eRF1s of two ciliates that reassigned one or two stop codons to sense codons in evolution and on the crystal structure of human eRF1. The proposed mechanism of stop codon recognition assumes that the amino acid residues 57/58 interact with the second and the residues 60/61 with the third position of a stop codon.

The micronuclear gene encoding a putative aminoacyl-tRNA synthetase cofactor of the ciliate Euplotes octocarinatus is interrupted by two sequences that are removed during macronuclear development.

The micronuclear gene of the ciliated protozoan Euplotes octocarinatus (Eo) syngen 1 encoding the putative aminoacyl-tRNA synthetase cofactor (ARCE), as well as its macronuclear version and the corresponding cDNA, were amplified and sequenced. Analyses of the sequences revealed that the micronuclear gene contains two sequences (430 and 625bp long) that are missing in the macronuclear version of this gene. These sequences are called 'internal eliminated sequences' (IESs) and appear to occur in all ciliates.

Vascular abnormalities in acute reflex sympathetic dystrophy (CRPS I): complete inhibition of sympathetic nerve activity with recovery.

Background: Reflex sympathetic dystrophy/complex regional pain syndrome type I (RSD/CRPS I) is a painful neuropathic disorder that may develop as a disproportionate consequence of a trauma affecting the limbs without overt nerve injury. Clinical features are spontaneous pain, hyperalgesia, impairment of motor function, swelling, changes in sweating, and vascular abnormalities.

Objective: To investigate pathophysiological mechanisms of vascular abnormalities in RSD/CRPS I.

The hypotrichous ciliate Euplotes octocarinatus has only one type of tRNACys with GCA anticodon encoded on a single macronuclear DNA molecule.

Deviations from the universal genetic code have evolved independently several times in ciliated protozoa. Thus, in some species UAA and UAG are no longer used as termination codons, but are read as glutamine, whereas in the genus Euplotes , UGA is translated as cysteine. We have investigated the nature of the tRNACys isoacceptor responsible for decoding UGA in Euplotes cells.

The two gamma-tubulin-encoding genes of the ciliate Euplotes crassus differ in their sequences, codon usage, transcription initiation sites and poly(A) addition sites.

We have isolated and sequenced two gamma-tubulin (gamma-Tub)-encoding macronuclear genes of the ciliate Euplotes crassus (Ec), as well as their corresponding cDNAs. Our results reveal that the two genes (gamma-tub 1 and gamma-tub 2) have introns in homologous positions, but differ in their sequences, codon usage, transcription initiation sites and poly(A) addition sites. They both consist of three exons, two introns and two short non-coding sequences on both ends, and they both code for polypeptides of 462 amino acids (aa).

Pheromones of the ciliate Euplotes octocarinatus not only induce conjugation but also function as chemoattractants.

Cells of the ten mating types of the ciliate Euplotes octocarinatus communicate by pheromones before they enter conjugation. The pheromones induce homotypic pairing when applied to mating types that do not secrete the same pheromone(s). Heterotypic pairs (i.

Respiratory modulation of blood flow in normal and sympathectomized skin in humans.

Sympathetic vasoconstrictor neurons innervating hairless skin of the cat show a respiratory rhythm of activity discharging in inspiration. The following questions arise: (1) Is it possible to detect respiratory variations in cutaneous blood flow in humans? (2) Are these variations actively mediated by rhythmic activity in vasoconstrictor neurons (active rhythms), or do they depend on blood flow changes induced passively due to respiratory blood pressure waves (passive rhythms)? Three patients who had been sympathectomized unilaterally and four healthy controls were studied. Cutaneous blood flow was measured bilaterally using a laser-Doppler flowmeter during physiological breathing (14/min, tidal volume 500-600 ml.

Gamma-tubulin is permanently associated with basal bodies in ciliates.

Ciliates are of special interest owing to the multiplicity and diversity of their microtubule organizing centers (MTOCs). The subcellular localization of gamma-tubulin in these protozoa has not been extensively studied. The cloning of a gamma-tubulin gene in Euplotes (Liang, A.

Conjugation in the ciliate Euplotes octocarinatus: comparison of ciliary and cell body-associated glycoconjugates of non-mating-competent, mating-competent, and conjugating cells.

Pair formation in the hypotrichous ciliate Euplotes octocarinatus is a poorly understood phenomenon. In order to obtain information about the molecules involved in this process, we compared ciliary and cell body-associated glycoconjugates of non-mating-competent, mating-competent, and conjugating cells. Detection of glycoconjugates was carried out on Western blots by immunostaining of oxidized, digoxigenin-labeled carbohydrate moieties.

Expression of the pheromone 3-encoding gene of Euplotes octocarinatus using a novel bacterial secretion vector.

The pheromone 3-encoding gene (phr3) of Euplotes octocarinatus was expressed in Escherichia coli using a novel expression-secretion vector. The vector, pExSec1, contains a strong and tightly regulated T7 promoter, the corresponding Shine-Dalgarno sequence and the T7 terminator region. Translation starts at the protein A leader sequence followed by the synthetic ZZ sequence of protein A.

The alpha- and beta-tubulin genes of Euplotes octocarinatus.

The alpha- and the beta-tubulin genes of the hypotrichous ciliate Euplotes octocarinatus were isolated from a size-selected macronuclear DNA library. The alpha-tubulin gene is located on a 1,587 bp macronuclear DNA molecule and the beta-tubulin gene on a 1,524 bp macronuclear DNA molecule. Sequencing revealed that all the cysteine residues of the two genes are encoded by the common cysteine codons UGU and UGC and none by an UGA codon.

The macronuclear gamma-tubulin-encoding gene of Euplotes octocarinatus contains two introns and an in-frame TGA.

The gamma-tubulin (gamma-Tub)-encoding gene (gamma-tub) of Euplotes octocarinatus was amplified from macronuclear DNA with the help of the polymerase chain reaction (PCR) and sequenced. The polypeptide deduced from the gene consists of 462 amino acids (aa). It shares 61% aa identity with the Aspergillus nidulans gamma-Tub.