Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return.
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Biomedical subjects
C Young
Publications and source records attributed to C Young.
Detection of a single base substitution in a single cell using the LightCycler.
For known mutations, real time polymerase chain reaction followed by melting curve analysis, using hybridization probes, is highly sensitive, rapid and an efficient approach to mutation detection. We have used this approach on the LightCycler for the detection of single base mutations in a single cell, without nested PCR. Hybridization probes were designed for two sequences in the BRCA1 gene containing a single base substitution and deletion, respectively. Polymerase chain reactions of small fragments (100-200 bp) containing the probe sequences were optimized using SYBR Green1, before using hybridization probes. The 5'-probes were 3'-labeled with FITC, whereas the 3'-probes, covering the mutation, were 5'-labeled with LC-Red640 (wild type probes) or LC-Red705 (mutant probes). Dual color detection of wild type and mutant sequences in a single tube was tested on single cells. The reaction mix was prepared in reaction capillaries and a single cell, picked by micromanipulation, was added to this mix. The DNA from the cell is released during the 5-min preheating step of the PCR, using the FastStart hybridization kit (Roche). Reproducible results were obtained, without the need of nested PCR. The technique is useful for microdissected tumors and, with other genes, has great potential for pre-implantation diagnosis in IVF and analysis of residual disease in cancer.
Base Sequence↗
We may be in danger of bribing volunteers.
Explore the source record for details and available documents.
Developing Countries↗
Dissociation between synaptic depression and block of long-term depression induced by raising the temperature in rat hippocampal slices.
The influence of raising the bath temperature (39 degrees C) on synaptic transmission and neuronal plasticity was studied in the CA1 region of the rat hippocampus using an extracellular recording technique. Increasing the bath temperature from 32 to 39 degrees C resulted in a depression of field excitatory postsynaptic potential (fEPSP). Application of the selective A(1) receptor agonist, 2-chloro-adenosine (2-CADO, 1 microM) reduced the fEPSP and subsequently occluded the raised temperature-induced synaptic depression. On the other hand, the selective adenosine A(1) receptor antagonist 8-cyclopentyl-1, 3-dipropylxanthine (DPCPX) blocked depression of fEPSP produced by raising the temperature. These results suggest that raising temperature-induced synaptic depression is due to an alteration of extracellular adenosine concentration. Long-term depression (LTD) could be reliably induced by the standard low-frequency stimulation (LFS, 1 Hz for 15 min) protocol at 32 degrees C but not at 39 degrees C. The raised temperature-induced block of LTD was mimicked by 2-CADO. Unexpectedly, despite the presence of DPCPX, LFS still could not elicit LTD. NMDA receptor-mediated synaptic component (fEPSP(NMDA)) was decreased when increasing the temperature to 39 degrees C and DPCPX failed to reverse such a depression. The increase in the NMDA response in 0.1 mM Mg(++) compared with 1 mM Mg(++) was significantly greater at 32 degrees C than at 39 degrees C. These results suggest that, by increasing the sensitivity of Mg(++) block, an increase in temperature modulates NMDA responses and thereby inhibits the induction of LTD.
2-Amino-5-phosphonovalerate↗
A randomised, controlled and blinded histological and immunohistochemical investigation of Carisolv on pulp tissue.
OBJECTIVES: This investigation was undertaken to test the hypothesis that Carisolv would show the same safety profile as physiologic saline when in direct contact with pulp tissue for 30 min. Furthermore, the sensory nerve fibre reaction in response to the injury was evaluated. METHODS: Incisors and molars in 40 Sprague-Dawley rats were opened and the pulp tissue randomly exposed to either Carisolv or NaCl for 30 min. Observation periods ranged from I day to I week. RESULTS: Light microscopic examination showed an almost identical cellular response in both test teeth and controls, which consisted of a localised inflammation represented predominantly by macrophages. Immunohistochemistry revealed an accumulation of beaded CGRP-immunoreactive fibres in immediate vicinity of the lesion, suggesting that the nerves had emitted small sprouts. Some fibres at this location were SP-positive, but very few, or no nerve fibres, displayed NPY-immunoreactivity. This innervation pattern was seen in both test and controls in similar distribution and at similar intensity. CONCLUSIONS: Results obtained in this study suggests the hypothesis to be valid, i.e. Carisolv does not seem to add appreciable adverse effects over and beyond what is caused by the experimental procedures. Furthermore, Carisolv does not seem to influence the distribution or neuropeptide expression of sensory nerve fibres in the pulp.
Animals↗
National survey of West syndrome in Taiwan.
In the fall of 2000, the Taiwan Child Neurology Society performed a retrospective survey of West syndrome that occurred in 1998 and 1999 in Taiwan. Questionnaires were sent to the child neurologists in 15 major teaching hospitals or medical centers throughout Taiwan. There were totally 41 cases in these 2 years. Among these 41 cases, 35 had complete data and were enrolled for analysis. The male to female ratio was 1:1.19. The mean age of onset was 6.0+/-4.9 months old. Twenty nine percent were classified as cryptogenic and 71% were symptomatic. Adrenocorticotropic hormone (ACTH) was given to 40% of these patients. The initial response rate was 78.6% and the recurrence rate was 36.4%. For those patients not receiving ACTH, vigabatrin and valproic acid were two of the most common choices. At the final visit, 37% patients remained seizure-free, 29% were still suffering from the same seizure, and 34% changed to other seizure types. The final developmental status was normal in 14%, mildly retarded in 20%, and moderate to severely retarded in 66% of the patients.
Adrenocorticotropic Hormone↗
Early epileptic encephalopathy with suppression burst electroencephalographic pattern--an analysis of eight Taiwanese patients.
Early epileptic encephalopathy with suppression burst (SB) comprises two distinct epileptic syndromes, early infantile epileptic encephalopathy (EIEE) and early myoclonic encephalopathy (EME). We reviewed etiologies, neurological outcome and clinico-electroencephalographic features of EIEE and EME. Chart records of early epileptic encephalopathy with SB from January 1997 to December 2000 were reviewed. These cases fulfilled the diagnostic criteria of EIEE and EME. Totally eight patients (four females, four males) were enrolled. They consisted of three cases of EIEE and five cases of EME. The follow-up periods ranged from 6 to 30 months. For EIEE, two cases had migrational disorders, and one was cryptogenic; for EME, three cases had non-ketotic hyperglycinemia (NKH), one was pyridoxine dependency and one was cryptogenic. The main initial seizure patterns were tonic spasms in EIEE, and were erratic myoclonus in EME. The age of seizure onset ranged from 26 h to 5 days after birth for EIEE, and 2 h to 7 days of life for EME. The SB pattern in the electroencephalography (EEG) was noted mainly during sleep state in EME, but in both awake and sleep states in EIEE. Asymmetric SB pattern and background activities in EEG were found in migrational disorders. The EEG in all cases of EIEE changed to hypsarrhythmia at 4-6 months of age. In EME, only the EEG in cases of NKH evolved to hypsarrhythmia. Response to anti-convulsants was generally poor. All had severe psychomotor retardation. Although EIEE and EME share several common features, differences in terms of seizure seminology and evolution, EEG patterns and etiologies still exist.
Anticonvulsants↗
Molecular cloning and genetic analysis of an indole-diterpene gene cluster from Penicillium paxilli.
The indole-diterpene paxilline is a potent tremorgenic mammalian mycotoxin and a known inhibitor of maxi-K ion channels. The gene cluster responsible for paxilline biosynthesis in Penicillium paxilli was identified by mapping four large plasmid-induced chromosome deletions. The cluster is predicted to lie within a 50 kb region of chromosome Va and to contain 17 genes, including a geranylgeranyl pyrophosphate (GGPP) synthase (paxG), two FAD-dependent monooxygenases (paxM and N), two cytochrome P450 monooxygenases (paxP and Q), a dimethylallyltryptophan (DMAT) synthase (paxD) and two possible transcription factors (paxR and paxS), which contain a Zn(II)2Cys6 DNA-binding motif. Targeted replacement of paxG confirmed that it is essential for paxilline biosynthesis but dispensable for growth. The GGPP for primary metabolism is predicted to be provided by a second GGPP synthase (ggs1) that was cloned, sequenced and mapped to chromosome IV. Semi-quantitative reverse transcriptase-polymerase chain reaction analysis demonstrated that the expression of paxG, paxM and paxP in submerged liquid cultures of P. paxilli increased dramatically with the onset of paxilline biosynthesis. In contrast, the expression of beta-tubulin (tub2) and ggs1 was not induced. This is the first description of the molecular cloning and genetic analysis of an indole-diterpene gene cluster.
Alkyl and Aryl Transferases↗
End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
Acetylcholine receptor (AChR) deficiency is the most common of the congenital myasthenic syndromes (CMS). Typically, the number of AChRs, measured by alpha-bungarotoxin binding, is reduced to 10-30% of normal levels, the miniature end-plate potentials are correspondingly reduced, and there are morphological changes at the motor end-plates. The majority of these syndromes are due to either missense or frameshift mutations within the gene encoding the adult-specific epsilon-subunit. These are often null mutations, but some mutant epsilon-subunits can be incorporated, at low levels, into functional AChRs in transfected cell lines. It is not clear, therefore, whether upregulation of the mutant epsilon-subunit mRNA could generate sufficient AChR to support neuromuscular transmission, albeit at a reduced level. Conversely, it might be that the mutant epsilon-subunit transcripts are subject to mRNA surveillance and 'nonsense-mediated' loss, leading to reduced epsilon-subunit mRNA expression. In either case, it is thought that neuromuscular transmission may be provided partly or entirely by incorporation of the foetal-specific gamma-subunit into end-plate AChR. gamma-Subunit mRNA is expressed at low levels in normal human muscle, but might be upregulated in CMS. The study of mRNA levels for AChR subunits should improve our understanding of genotype-phenotype relationships in CMS. Here we have defined homozygous epsilon-subunit mutations in four unrelated families with AChR deficiency and studied the steady-state levels of mRNA for AChR subunits at the motor end-plates by in situ hybridization. Although we demonstrated that each mutation would lead to almost complete absence of surface adult AChR expression, we detected similar robust expression of alpha- and epsilon-subunit mRNAs at end-plates of patient and control muscles, suggesting that mRNA transcripts for the epsilon-subunit are neither upregulated nor degraded preferentially. Interestingly, we were unable to detect any increase in gamma-subunit mRNA expression at CMS end-plates. Transgenic mice lacking the epsilon-subunit die 2-3 months after birth, suggesting that alpha(2)betadelta(2) pentamers cannot sustain neuromuscular transmission. Therefore, we tentatively conclude that the persistent low level expression of the gamma-subunit, which is present in normal human muscles as well as in AChR deficiency syndromes, is sufficient to enable patients with epsilon-subunit null alleles to survive.
Adult↗
Efficacy and safety of gemifloxacin in the treatment of community-acquired pneumonia: a randomized, double-blind comparison with trovafloxacin.
This multicentre, randomized, double blind, parallel group study compared the efficacy and safety of gemifloxacin (320 mg once daily) with trovafloxacin (200 mg once daily) in 571 patients with community-acquired pneumonia (CAP). Although treatment was given routinely for 7 days it could be extended to 14 days; two-thirds of patients were treated for 7 days. High clinical success rates were noted at follow-up in the per-protocol population in both the gemifloxacin group (95.8%) and the trovafloxacin group (93.6%), non-inferiority with 95% CI. In the intent-to-treat population, the clinical success rate at follow-up was significantly superior for gemifloxacin (87.6%) compared with trovafloxacin (81.1%; 95% CI 0.5, 12.4). The pathogens identified most commonly at presentation were Mycoplasma pneumoniae and Streptococcus pneumoniae. Gemifloxacin eradicated 100% of S. pneumoniae. One bacteraemic isolate of S. pneumoniae was associated with clinical failure in the trovafloxacin group (MIC of trovafloxacin 8 mg/L). Gemifloxacin was well tolerated and the incidence of transient liver function abnormalities was very low. Gemifloxacin is an effective and well-tolerated treatment for patients with CAP.
Adolescent↗
Overexpression of p53-related proteins predicts rapid growth rate of head and neck cancer.
OBJECTIVES/HYPOTHESIS: The p53 tumor suppressor gene plays an important role for cell cycle regulation and is the most frequent mutated gene in head and neck cancer. Controversy remains regarding the biological and clinical value of immunohistochemical identification of the proteins accumulated in association with inactivation of the p53 gene and increased tumor growth. Therefore, the objective of the present study was to perform a cell kinetic analysis of cases with untreated squamous cell carcinoma and to compare the result with immunostaining for p53-related proteins in the tumor cells. STUDY DESIGN: A prospective series of 32 patients presenting with various stages of untreated squamous cell carcinoma of the head and neck were included. Bromodeoxyuridine (BrdU) was injected as a tracer dose before tumor biopsy for cell kinetic analysis, and p53 protein accumulation was detected using two antibodies (DO7 and PAb 1801). RESULTS: Antibody DO7 showed the highest and the optimal immunoreactivity. Diploid tumors were found in 27 cases (84%), and the mean potential doubling time (Tpot) was 55 +/- 7 hours for these tumors. Positivity of DO7 (>1%) was demonstrated in 85% of the cases. However, a discrimination level exceeding 20% was required to obtain a significant negative relationship (Spearman's rank correlation coefficient test, P < or = .03) between Tpot and DO7 positivity. At that level, 33% of the tumors remained DO7-positive. The corresponding Tpot was not significantly different from the overall mean. The rates of metastatic disease and survival were not dependent on DO7 immunoreactivity or cancer cell kinetics. CONCLUSION: Accumulation of p53-related proteins is associated with an unrestrained growth of head and neck cancer.
Adult↗
Preparing for bioterrorism: category A agents.
September 11, 2001, brought the possibility of biologic acts of terrorism against the United States into the national consciousness. As the American people brace themselves for this new threat to the national well-being, clinicians must understand how to prevent, recognize, and treat the biologic agents that could be used in terrorist attacks. This article discusses the most likely biologic agents, including diagnostic laboratory procedures, treatment options, psychological effects, special populations, and reporting requirements.
Anthrax↗
Selective enhancement of l-type calcium currents by corticotropin in acutely isolated rat amygdala neurons.
The modulation of voltage-dependent calcium currents (I(Ca)) by corticotropin was studied in acutely dissociated rat amygdala neurons using whole-cell, patch-clamp recording techniques. Application of corticotropin(1-24) or corticotropin(4-10) increased I(Ca) in a concentration-dependent manner, with half-maximal effective concentrations of 65 and 176 nM and maximal increases of approximately 75% and approximately 50%, respectively. Nimodipine (1 microM) reduced the I(Ca) by approximately 30%. Subsequent application of corticotropin in the presence of nimodipine failed to produce an enhancement of I(Ca), suggesting that corticotropin acts selectively on L-type channels. In addition, corticotropin-mediated enhancement of I(Ca) after exposure to omega-conotoxin-GVIA and omega-agatoxin-IV was not significantly different from that observed in the control neurons, ruling out the involvement of N- and P/Q-type channels. The effect of corticotropin was mimicked by forskolin and (S(p))-cyclic adenosine 3',5'-monophosphothioate [(S(p))-cAMPS] and was significantly enhanced in the presence of phosphodiesterase or protein phosphatase inhibitors. On the other hand, the effect of corticotropin was markedly reduced in neurons intracellularly dialyzed with (R(p))-cAMPS, a regulatory site antagonist of cAMP-dependent protein kinase (PKA) or by extracellular perfusion of KT 5720, a catalytic site antagonist of PKA. Taken together, these results show for the first time that corticotropin enhances voltage-dependent Ca(2+) currents in brain neurons and that this increase is mediated through L-type channels and involves a cAMP-dependent mechanism.
Adrenocorticotropic Hormone↗
Correlations between molecular subtyping and serotyping of Listeria monocytogenes.
To define relationships between Listeria monocytogenes genetic lineages, ribotypes, and serotypes, 235 L. monocytogenes isolates were characterized by serotyping and automated EcoRI ribotyping. Genetic lineage predicted the following serovar clusters: lineage I, comprising serotypes 1/2b, 3b, 3c, and 4b; lineage II, comprising serotypes 1/2a, 1/2c, and 3a; and lineage III, comprising serotypes 4a and 4c. Some EcoRI ribotypes contained multiple serotypes; a subset of these isolates was further differentiated with PvuII ribotyping. Of the 12 resultant EcoRI-PvuII combination types, only 4 contained multiple serotypes, demonstrating the potential of ribotyping for serotype prediction.
Animals↗
Solitary rectal ulcer syndrome presenting with rectal prolapse, severe mucorrhea and eroded polypoid hyperplasia: case report and review of the literature.
A case of solitary rectal ulcer syndrome in a 36-year-old woman presenting with severe, persistent mucorrhea and eroded polypoid hyperplasia as the predominant clinical features, who was ultimately noted to have symptoms of rectal prolapse, is presented. Endoscopically, she had multiple (50 to 60) small, whitish polypoid lesions in the rectum that were initially misinterpreted as being a carpeted villous adenoma, juvenile polyposis or atypical proctitis. The lesions were treated with argon plasma coagulation with resolution, but a solitary rectal ulcer developed. The patient then admitted to a history of massive rectal prolapse over the preceding six months and underwent surgical treatment. Severe mucorrhea as the presenting feature and the presence of multiple polypoid lesions consistent with a histological diagnosis of eroded polypoid hyperplasia make the present case unique.
Adult↗
Lipid myopathy associated with renal tubular acidosis and spastic diplegia in two brothers.
Lipid myopathy is a group of disorders involving mitochondrial fatty acid oxidation. We describe two brothers, 3 years 8 months old and 2 years 9 months old, respectively, with progressive spastic diplegia, developmental delay, failure to thrive, and chronic metabolic acidosis who had lipid myopathy and renal tubular acidosis. Brain magnetic resonance imaging revealed demyelinating changes in the periventricular white matter, which was compatible with spastic diplegia. These symptoms may be related to errors in fatty acid metabolism. Cerebral palsy had been misdiagnosed in both of these patients at another hospital. Therefore, for patients with late-onset and progressive spastic diplegia, detailed investigations for underlying diseases are warranted.
Acidosis, Renal Tubular↗
Nerve growth factor and neurotrophin-3 affect functional recovery following peripheral nerve injury differently.
PURPOSE: Many studies have investigated the roles of neurotrophic factors in nerve regeneration by examining either anatomical recovery (regenerated axon count) or functional recovery as measured by sensory and motor behavior. This longitudinal study examined the effects of NGF and NT3 on functional and anatomical recovery following transection of tbc sciatic nerve. METHODS: Alzet osmotic pumps were implanted to deliver a continuous supply of NGF, NT3 or buffer solution to the stumps of the transected sciatic nerve for the first 28 days following implantation. Rats were tested weekly to determine the extent of recovery of motor (footprint gait analysis) or nociceptive (warm water withdrawal), and mechanoreceptive (skin pinch) function. RESULTS: Neither NT3-, nor NGF-treatment significantly enhanced motor recovery as examined by gait analysis. At the end of 12 weeks of behavioral testing, there was no difference in motor recovery. In addition, the recovery of withdrawal response to warm water stimulus was delayed in NGF treated animals. After twelve weeks, nerves were removed for anatomical analysis. Regenerated sciatic nerves from NT3 treated animals had slightly more axons than control- or NGF-treated animals. CONCLUSION: This work shows that there were no long-lasting improvements of anatomical or functional recovery in NGF- or NT3-treated animals 12 weeks following sciatic nerve transection.
Animals↗
Tonsillectomy. A comparative study of dissection/snare vs suction-cautery.
In an optimal situation, a surgical procedure would be one that generates minimal post-operative pain, incurs little or no bleeding, and allows the patient to return to their normal daily activities in the shortest time period. A tonsillectomy is one of the most common operations performed in the world. Various surgical procedures for tonsillectomy are performed with a wide array of opinions to support the pros and cons of each technique. OBJECTIVES/GOALS: To determine if there is a significant difference between two methods of tonsillectomy. METHODS AND MATERIALS: A prospective single blinded randomized control study using (i) A dissection/snare technique, and (ii) A suction-cautery method. Measured outcomes such as blood loss, surgical time, post-op pain, post-op hydration, pyrexia, and the length of time to resume normal daily activities will be assessed. RESULTS: In total, 50 patients were studied, 23 in the dissection/snare technique, and 27 in the suction cautery technique. Inclusion criteria was, the patient must be at least 2 years of age and not older than 16 years of age. Data was collected intra-operatively, at 2 and 4 hour post-op intervals, as well as a 2 week follow-up questionnaire completed by the parents. CONCLUSIONS: The suction cautery group had statistically significant differences in blood loss, surgical time and pain in the immediate post-operative period.
Adolescent↗