Intelligent monitoring and control of semiconductor manufacturing equipment
NASA Technical Reports Server (NTRS)
Murdock, Janet L.; Hayes-Roth, Barbara
1991-01-01
The use of AI methods to monitor and control semiconductor fabrication in a state-of-the-art manufacturing environment called the Rapid Thermal Multiprocessor is described. Semiconductor fabrication involves many complex processing steps with limited opportunities to measure process and product properties. By applying additional process and product knowledge to that limited data, AI methods augment classical control methods by detecting abnormalities and trends, predicting failures, diagnosing, planning corrective action sequences, explaining diagnoses or predictions, and reacting to anomalous conditions that classical control systems typically would not correct. Research methodology and issues are discussed, and two diagnosis scenarios are examined.
LIPID ABNORMALITIES AND LIPID-BASED REPAIR STRATEGIES IN ATOPIC DERMATITIS
Elias, Peter M.
2013-01-01
Prior studies have revealed the key roles played by Th1/Th2 cell dysregulation, IgE production, mast cell hyperactivity, and dendritic cell signaling in the evolution of the chronic, pruritic, inflammatory dermatosis that characterizes atopic dermatitis (AD). We review here increasing evidence that the inflammation in AD results primarily from inherited abnormalities in epidermal structural and enzymatic proteins that impact permeability barrier function. We also will show that the barrier defect can be attributed to a paracellular abnormality due to a variety of abnormalities in lipid composition, transport and extracellular organization. Accordingly, we also review the therapeutic implications of this emerging pathogenic paradigm, including several current and potentially novel, lipid-based approaches to corrective therapy. PMID:24128970
Method and system for providing work machine multi-functional user interface
Hoff, Brian D [Peoria, IL; Akasam, Sivaprasad [Peoria, IL; Baker, Thomas M [Peoria, IL
2007-07-10
A method is performed to provide a multi-functional user interface on a work machine for displaying suggested corrective action. The process includes receiving status information associated with the work machine and analyzing the status information to determine an abnormal condition. The process also includes displaying a warning message on the display device indicating the abnormal condition and determining one or more corrective actions to handle the abnormal condition. Further, the process includes determining an appropriate corrective action among the one or more corrective actions and displaying a recommendation message on the display device reflecting the appropriate corrective action. The process may also include displaying a list including the remaining one or more corrective actions on the display device to provide alternative actions to an operator.
Prenatal neurogenesis in autism spectrum disorders
NASA Astrophysics Data System (ADS)
Kaushik, Gaurav; Zarbalis, Konstantinos
2016-03-01
An ever-increasing body of literature describes compelling evidence that a subset of young children on the autism spectrum show abnormal cerebral growth trajectories. In these cases, normal cerebral size at birth is followed by a period of abnormal growth and starting in late childhood often by regression compared to unaffected controls. Recent work has demonstrated an abnormal increase in the number of neurons of the prefrontal cortex suggesting that cerebral size increase in autism is driven by excess neuronal production. In addition, some affected children display patches of abnormal laminar positioning of cortical projection neurons. As both cortical projection neuron numbers and their correct layering within the developing cortex requires the undisturbed proliferation of neural progenitors, it appears that neural progenitors lie in the center of the autism pathology associated with early brain overgrowth. Consequently, autism spectrum disorders associated with cerebral enlargement should be viewed as birth defects of an early embryonic origin with profound implications for their early diagnosis, preventive strategies, and therapeutic intervention.
Nair, Shalini; Nair, Bijesh Ravindran; Vidyasagar, Ajay; Joseph, Mathew
2016-08-01
The routine management of coagulopathy during surgery involves assessing haemoglobin, prothrombin time (PT), activated partial thromboplastin time (aPTT) and platelets. Correction of these parameters involves administration of blood, fresh frozen plasma and platelet concentrates. The study was aimed at identifying the most common coagulation abnormality during neurosurgical procedures and the treatment of dilutional coagulopathy with blood components. During 2 years period, all adult patients undergoing neurosurgical procedures who were transfused two or more units of red cells were prospectively evaluated for the presence of a coagulopathy. PT, aPTT, platelet count and fibrinogen levels were estimated before starting a component therapy. After assessing PT, aPTT, platelet count and fibrinogen levels following two or more blood transfusions, thirty patients were found to have at least one abnormal parameter that required administration of a blood product. The most common abnormality was a low fibrinogen level, seen in 26 patients; this was the only abnormality in three patients. No patient was found to have an abnormal PT or aPTT without either the fibrinogen concentration or platelet count or both being low. Low fibrinogen concentration was the most common coagulation abnormality found after blood transfusions for neurosurgical procedures.
Detection of Abnormal Operation Noise Using CHLAC of Sound Spectrograph and Continuous DP Matching
NASA Astrophysics Data System (ADS)
Hattori, Koosuke; Ohmi, Taishi; Taguchi, Ryo; Umezaki, Taizo
It is a general way that the industrial product is tested by individual inspector. If the product involves sound factors, each inspector will evaluate the test product to sort out a strange engine noise from the natural sound. However, it is hard to cover the consistency in evaluation criteria due to the personal equation referred to the idea that every individual had an inherent bias, plus a physical and mental conditions can be a negative effect on his/her evaluation criteria. It would be ideal if the criteria would not be affected by anyone, anywhere, circumstances; accordingly the quality of products must be equated. In this paper, we propose a noise detection method based on Cubic Higher-order Local Auto-Correlation (CHLAC) scheme and DP Matching provided by Cepstrum Analysis to extract the correct solution. This technique is practically used for detecting any human abnormal movements out of a monitored video clip and identifying individual persons by voice. The study results are shown to be highly effective in our proposed method.
Dixon, V L; Bzoch, K R; Habal, M B
1979-07-01
A comparison is made of the preoperative and postoperative speech evaluations of 15 selected subjects who had pharyngeal flap operations combined with palatal pushback. Postoperatively, 13 of the 15 patients (86 percent) showed no abnormal nasal emission and no evidence of significant hypernasality during word production. Gross substitution errors were also corrected by the surgical repair. While the number of patients is small, this study indicates equal effectiveness of the surgical technique described--regardless of the sex, the medical diagnosis, whether the procedure was primary or secondary, or the amount of postoperative time--providing there is good function of the muscles of the soft palate.
Pregnancy outcomes among patients with recurrent pregnancy loss and uterine anatomic abnormalities.
Gabbai, Daniel; Harlev, Avi; Friger, Michael; Steiner, Naama; Sergienko, Ruslan; Kreinin, Andrey; Bashiri, Asher
2017-07-25
Different etiologies for recurrent pregnancy loss have been identified, among them are: anatomical, endocrine, genetic, chromosomal and thrombophilia pathologies. To assess medical and obstetric characteristics, and pregnancy outcomes, among women with uterine abnormalities and recurrent pregnancy loss (RPL). This study also aims to assess the impact of uterine anatomic surgical correction on pregnancy outcomes. A retrospective case control study of 313 patients with two or more consecutive pregnancy losses followed by a subsequent (index) pregnancy. Anatomic abnormalities were detected in 80 patients. All patients were evaluated and treated in the RPL clinic at Soroka University Medical Center. Out of 80 patients with uterine anatomic abnormalities, 19 underwent surgical correction, 32 did not and 29 had no clear record of surgical intervention, and thus were excluded from this study. Women with anatomic abnormalities had a higher rate of previous cesarean section (18.8% vs. 8.6%, P=0.022), tended to have a lower number of previous live births (1.05 vs. 1.37, P=0.07), and a higher rate of preterm delivery (22.9% vs. 10%, P=0.037). Using multivariate logistic regression analysis, anatomic abnormality was identified as an independent risk factor for RPL in patients with previous cesarean section after controlling for place of residence, positive genetic/autoimmune/endocrine workup, and fertility problems (OR 7.22; 95% CI 1.17-44.54, P=0.03). Women suffering from anatomic abnormalities tended to have a higher rate of pregnancy loss compared to those without anatomic abnormalities (40% vs. 30.9%, P=0.2). The difference in pregnancy loss rate among women who underwent surgical correction compared to those who did not was not statistically significant. In patients with previous cesarean section, uterine abnormality is an independent risk factor for pregnancy loss. Surgical correction of uterine abnormalities among RPL patients might have the potential to improve live birth rate.
Bloem, B R; Beckley, D J; van Dijk, J G; Zwinderman, A H; Remler, M P; Roos, R A
1996-09-01
It is still unclear why balance impairment in Parkinson's disease (PD) often responds insufficiently to dopaminergic medication. We have studied this issue in 23 patients with idiopathic PD and 24 healthy controls. Our specific purposes were (a) to investigate the contribution of abnormal automatic postural responses to balance impairment in PD and (b) to assess the influence of dopaminergic medication on abnormal automatic postural responses and balance impairment. Standing subjects received 4 degrees "toe-up" rotational perturbations of a supporting forceplate. We bilaterally recorded posturally destabilizing medium latency (ML) responses from the stretched gastrocnemius muscles and functionally corrective long latency (LL) responses from the shortened tibialis anterior (TA) muscles. We also assessed changes in the center of foot pressure (CFP) and the center of gravity (COG). All patients were tested in the "off" and "on" phases. All controls were tested and retested after 1 h. During the off phase, we found enlarged ML amplitudes and diminished LL amplitudes in patients, together with a markedly increased posterior displacement of the COG. The abnormal ML and LL responses were partially responsible for the increased body sway in patients because the initial forward (destabilizing) displacement of the CFP was increased, while the subsequent backward displacement of the CFP (a measure of the corrective braking action of LL responses) was delayed. Abnormal late automatic or possibly more voluntary postural corrections also contributed substantially to the increased body sway. During the on phase, ML amplitudes were reduced in patients but remained increased compared with controls. LL amplitudes no longer differed between both groups due to a modest, possibly dopamine-related increase in patients and a simultaneous decrease in controls. The abnormal CFP displacement was only partially improved by dopaminergic medication. The later postural corrections were not improved at all. Consequently, the increased posterior COG displacement was not ameliorated during the on phase. We conclude that (a) a combination of abnormal automatic and perhaps more voluntary postural corrections contributes to increased body sway in PD and (b) dopaminergic medication fails to improve balance impairment in PD because early automatic postural responses are only partially corrected, while later occurring postural corrections are not improved at all. These electrophysiological results support clinical observations and suggest that nondopaminergic lesions play a significant role in the pathophysiology of postural abnormalities in PD.
Nonsurgical correction of congenital ear abnormalities in the newborn: Case series.
Smith, Wg; Toye, Jw; Reid, A; Smith, Rw
2005-07-01
To determine whether a simple, nonsurgical treatment for congenital ear abnormalities (lop-ear, Stahl's ear, protruding ear, cryptotia) improved the appearance of ear abnormalities in newborns at six weeks of age. This is a descriptive case series. All newborns with identified abnormalities were referred by their family physician to one paediatrician (WGS) in a small level 2 perinatal centre. The ears were waxed and taped in a standard manner within 10 days of birth. Pictures were taken before taping and at the end of taping (one month). All patients and pictures were assessed by one plastic surgeon (JWT) at six weeks of age and scored using a standard scoring system. A telephone survey of the nontreatment group was conducted. The total number of ears assessed was 90. Of this total, 69 ears were taped and fully evaluated in the study (77%). The refusal rate was 23%. In the treatment group, 59% had lop-ear, 19% had Stahl's ear, 17% had protruding ear and 3% had cryptotia. Overall correction (excellent/improved) for the treatment group was 90% (100% for lop-ear, 100% for Stahl's ear, 67% for protruding ear and 0% for cryptotia). In the nontreatment (refusal) group, 67% of the ears failed to correct spontaneously. No complications were recognized by the authors or parents by six weeks. The percentage of newborns in one year in the perinatal centre with recognized ear abnormalities was 6% (90 of 1600). A simple, nonsurgical treatment in a Caucasian population appeared to be very effective in correcting congenital ear abnormalities with no complications and high patient/parent satisfaction.
Xu, Xiaohong; Tay, Yilin; Sim, Bernice; Yoon, Su-In; Huang, Yihui; Ooi, Jolene; Utami, Kagistia Hana; Ziaei, Amin; Ng, Bryan; Radulescu, Carola; Low, Donovan; Ng, Alvin Yu Jin; Loh, Marie; Venkatesh, Byrappa; Ginhoux, Florent; Augustine, George J; Pouladi, Mahmoud A
2017-03-14
Huntington disease (HD) is a dominant neurodegenerative disorder caused by a CAG repeat expansion in HTT. Here we report correction of HD human induced pluripotent stem cells (hiPSCs) using a CRISPR-Cas9 and piggyBac transposon-based approach. We show that both HD and corrected isogenic hiPSCs can be differentiated into excitable, synaptically active forebrain neurons. We further demonstrate that phenotypic abnormalities in HD hiPSC-derived neural cells, including impaired neural rosette formation, increased susceptibility to growth factor withdrawal, and deficits in mitochondrial respiration, are rescued in isogenic controls. Importantly, using genome-wide expression analysis, we show that a number of apparent gene expression differences detected between HD and non-related healthy control lines are absent between HD and corrected lines, suggesting that these differences are likely related to genetic background rather than HD-specific effects. Our study demonstrates correction of HD hiPSCs and associated phenotypic abnormalities, and the importance of isogenic controls for disease modeling using hiPSCs. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.
Congenital completely buried penis in boys: anatomical basis and surgical technique.
Liu, Xing; He, Da-wei; Hua, Yi; Zhang, De-ying; Wei, Guang-hui
2013-07-01
WHAT'S KNOWN ON THE SUBJECT? AND WHAT DOES THE STUDY ADD?: Surgical correction of the congenital completely buried penis (CCBP) is a difficult challenge and there is no unanimous consensus about the surgical 'gold standard' and patient eligibility for surgery. In the present study, dysgenetic fundiform ligaments were found to be attached to the distal or middle shaft of the penis. This abnormality can be successfully corrected by releasing the fundiform ligament and mobilising the scrotal skin to cover the length of the penile shaft. The study shows that the paucity and traction of the penile skin and an abnormal fundiform ligament are important anatomical defects in CCBP. Dorsal curve and severe shortage of penile skin in erectile conditions are the main indications for surgical correction. To present our experience of anatomical findings for congenital completely buried penis (CCBP), which has no unanimous consensus regarding the 'gold standard' for surgical correction and patient eligibility, by providing our surgical technique and illustrations. Between February 2006 and February 2011, 22 children with a median (range) age of 4.2 (2.5-5.8) years, with CCBP underwent surgical correction by one surgeon. Toilet training and photographs of morning erections by parents were advised before surgery. The abnormal anatomical structure of buried penis during the operation was observed. The technique consisted of the release of the fundiform ligament, fixation of the subcutaneous penile skin at the base of the degloved penis, penoscrotal Z-plasty and mobilisation of the penile and scrotal skin to cover the penile shaft. In reflex erectile conditions, CCBP presents varying degrees of dorsal curve and shortage of penile skin. Dysgenetic fundiform ligaments were found to be attached to the distal or middle shaft of the penis in all patients. All wounds healed well and the cosmetic outcome was good at 6-month follow-up after the repair. The appearance of the dorsal curve in CCBP mainly results from the traction of penile dorsal skin and the abnormal attachment of the fundiform ligament to the shaft. This abnormality can be successfully corrected by releasing the abnormal fundiform ligament and mobilising scrotal skin to cover the length of the penile shaft. © 2013 BJU International.
NASA Astrophysics Data System (ADS)
Tang, Jing; Wang, Xinhui; Gao, Xiangzhen; Segars, W. Paul; Lodge, Martin A.; Rahmim, Arman
2017-06-01
ECG gated cardiac PET imaging measures functional parameters such as left ventricle (LV) ejection fraction (EF), providing diagnostic and prognostic information for management of patients with coronary artery disease (CAD). Respiratory motion degrades spatial resolution and affects the accuracy in measuring the LV volumes for EF calculation. The goal of this study is to systematically investigate the effect of respiratory motion correction on the estimation of end-diastolic volume (EDV), end-systolic volume (ESV), and EF, especially on the separation of normal and abnormal EFs. We developed a respiratory motion incorporated 4D PET image reconstruction technique which uses all gated-frame data to acquire a motion-suppressed image. Using the standard XCAT phantom and two individual-specific volunteer XCAT phantoms, we simulated dual-gated myocardial perfusion imaging data for normally and abnormally beating hearts. With and without respiratory motion correction, we measured the EDV, ESV, and EF from the cardiac-gated reconstructed images. For all the phantoms, the estimated volumes increased and the biases significantly reduced with motion correction compared with those without. Furthermore, the improvement of ESV measurement in the abnormally beating heart led to better separation of normal and abnormal EFs. The simulation study demonstrated the significant effect of respiratory motion correction on cardiac imaging data with motion amplitude as small as 0.7 cm. The larger the motion amplitude the more improvement respiratory motion correction brought about on the EF measurement. Using data-driven respiratory gating, we also demonstrated the effect of respiratory motion correction on estimating the above functional parameters from list mode patient data. Respiratory motion correction has been shown to improve the accuracy of EF measurement in clinical cardiac PET imaging.
Preoperative Status and Risk of Complications in Patients with Hip Fracture
McLaughlin, Mary Ann; Orosz, Gretchen M; Magaziner, Jay; Hannan, Edward L; McGinn, Thomas; Morrison, R Sean; Hochman, Tsivia; Koval, Kenneth; Gilbert, Marvin; Siu, Albert L
2006-01-01
BACKGROUND Limited information is available on preoperative status and risks for complications for older patients having surgery for hip fracture. Our objective was to identify potentially modifiable clinical findings that should be considered in decisions about the timing of surgery. METHODS We conducted a prospective cohort study with data obtained from medical records and through structured interviews with patients. A total of 571 adults with hip fracture who were admitted to 4 metropolitan hospitals were included. RESULTS Multiple logistic regression was used to identify risk factors (including 11 categories of physical and laboratory findings, classified as mild and severe abnormalities) for in-hospital complications. The presence of more than 1 (odds ratiol [OR] 9.7, 95% confidence interval [CI] 2.8 to 33.0) major abnormality before surgery or the presence of major abnormalities on admission that were not corrected prior to surgery (OR 2.8, 95% CI 1.2 to 6.4) was independently associated with the development of postoperative complications. We also found that minor abnormalities, while warranting correction, did not increase risk (OR 0.70, 95% CI 0.28 to 1.73). CONCLUSIONS In this study of older adults undergoing urgent surgery, potentially reversible abnormalities in laboratory and physical examination occurred frequently and significantly increased the risk of postoperative complications. Major clinical abnormalities should be corrected prior to surgery, but patients with minor abnormalities may proceed to surgery with attention to these medical problems perioperatively. PMID:16390507
Spittle, Alicia J; Boyd, Roslyn N; Inder, Terrie E; Doyle, Lex W
2009-02-01
The objective of this study was to compare the predictive value of qualitative MRI of brain structure at term and general movements assessments at 1 and 3 months' corrected age for motor outcome at 1 year's corrected age in very preterm infants. Eighty-six very preterm infants (<30 weeks' gestation) underwent MRI at term-equivalent age, were evaluated for white matter abnormality, and had general movements assessed at 1 and 3 months' corrected age. Motor outcome at 1 year's corrected age was evaluated with the Alberta Infant Motor Scale, the Neuro-Sensory Motor Development Assessment, and the diagnosis of cerebral palsy by the child's pediatrician. At 1 year of age, the Alberta Infant Motor Scale categorized 30 (35%) infants as suspicious/abnormal; the Neuro-Sensory Motor Development Assessment categorized 16 (18%) infants with mild-to-severe motor dysfunction, and 5 (6%) infants were classified with cerebral palsy. White matter abnormality at term and general movements at 1 and 3 months significantly correlated with Alberta Infant Motor Scale and Neuro-Sensory Motor Development Assessment scores at 1 year. White matter abnormality and general movements at 3 months were the only assessments that correlated with cerebral palsy. All assessments had 100% sensitivity in predicting cerebral palsy. White matter abnormality demonstrated the greatest accuracy in predicting combined motor outcomes, with excellent levels of specificity (>90%); however, the sensitivity was low. On the other hand, general movements assessments at 1 month had the highest sensitivity (>80%); however, the overall accuracy was relatively low. Neuroimaging (MRI) and functional (general movements) examinations have important complementary roles in predicting motor development of very preterm infants.
ERIC Educational Resources Information Center
Hamer, Elisa G.; Bos, Arend F.; Hadders-Algra, Mijna
2011-01-01
Aim: Abnormal general movements at around 3 months corrected age indicate a high risk of cerebral palsy (CP). We aimed to determine whether specific movement characteristics can improve the predictive power of definitely abnormal general movements. Method: Video recordings of 46 infants with definitely abnormal general movements at 9 to 13 weeks…
Speech therapy for errors secondary to cleft palate and velopharyngeal dysfunction.
Kummer, Ann W
2011-05-01
Individuals with a history of cleft lip/palate or velopharyngeal dysfunction may demonstrate any combination of speech sound errors, hypernasality, and nasal emission. Speech sound distortion can also occur due to other structural anomalies, including malocclusion. Whenever there are structural anomalies, speech can be affected by obligatory distortions or compensatory errors. Obligatory distortions (including hypernasality due to velopharyngeal insufficiency) are caused by abnormal structure and not by abnormal function. Therefore, surgery or other forms of physical management are needed for correction. In contrast, speech therapy is indicated for compensatory articulation productions where articulation placement is changed in response to the abnormal structure. Speech therapy is much more effective if it is done after normalization of the structure. When speech therapy is appropriate, the techniques involve methods to change articulation placement using standard articulation therapy principles. Oral-motor exercises, including the use of blowing and sucking, are never indicated to improve velopharyngeal function. The purpose of this article is to provide information regarding when speech therapy is appropriate for individuals with a history of cleft palate or other structural anomalies and when physical management is needed. In addition, some specific therapy techniques are offered for the elimination of common compensatory articulation productions. © Thieme Medical Publishers.
Genomic interval engineering of mice identified a novel modulator of triglyceride production
DOE Office of Scientific and Technical Information (OSTI.GOV)
Zhu, Y.; Jong, M.C.; Frazer, K.A.
1999-10-01
To accelerate the biological annotation of novel genes discovered in sequenced of mammalian genomes, we are creating large deletions in the mouse genome targeted to include clusters of such genes. Here we describe the targeted deletion of a 450 kb region on mouse chromosome 11 which, based on computational analysis of the deleted murine sequences and human 5q orthologous sequences, codes for nine putative genes. Mice homozygous for the deletion had a variety of abnormalities including severe hypertriglyceridemia, hepatic and cardiac enlargement, growth retardation and premature mortality. Analysis of triglyceride metabolism in these animals demonstrated a several-fold increase in hepaticmore » very-low density lipoprotein (VLDL) triglyceride secretion, the most prevalent mechanism responsible for hypertriglyceridemia in humans. A series of mouse BAC and human YAC transgenes covering different intervals of the 450 kb deleted region were assessed for their ability to complement the deletion induced abnormalities. These studies revealed that OCTN2, a gene recently shown to play a role in carnitine transport, was able to correct the triglyceride abnormalities. The discovery of this previously unappreciated relationship between OCTN2, carnitine and hepatic triglyceride production is of particular importance due to the clinical consequence of hypertriglyceridemia and the paucity of genes known to modulate triglyceride secretion.« less
Surgical correction of urethral dilatation in an intersex goat.
Karras, S; Modransky, P; Welker, B
1992-11-15
Multiple congenital urethral abnormalities were successfully corrected in a polled goat kid. Anatomic genito-urinary abnormalities identified were paired testes with associated epididymis, ductus deferens, and active endometrial tissue. Blood karyotyping revealed the female state--XX sex chromosomes. This case exemplifies the complex interactions in addition to Y dominant Mendelian genetics that determine reproductive tract development in goats. The resultant intersex state is clinically recognized with greater frequency in polled progeny.
Wyma, John M.; Herron, Timothy J.; Yund, E. William
2016-01-01
In verbal fluency (VF) tests, subjects articulate words in a specified category during a short test period (typically 60 s). Verbal fluency tests are widely used to study language development and to evaluate memory retrieval in neuropsychiatric disorders. Performance is usually measured as the total number of correct words retrieved. Here, we describe the properties of a computerized VF (C-VF) test that tallies correct words and repetitions while providing additional lexical measures of word frequency, syllable count, and typicality. In addition, the C-VF permits (1) the analysis of the rate of responding over time, and (2) the analysis of the semantic relationships between words using a new method, Explicit Semantic Analysis (ESA), as well as the established semantic clustering and switching measures developed by Troyer et al. (1997). In Experiment 1, we gathered normative data from 180 subjects ranging in age from 18 to 82 years in semantic (“animals”) and phonemic (letter “F”) conditions. The number of words retrieved in 90 s correlated with education and daily hours of computer-use. The rate of word production declined sharply over time during both tests. In semantic conditions, correct-word scores correlated strongly with the number of ESA and Troyer-defined semantic switches as well as with an ESA-defined semantic organization index (SOI). In phonemic conditions, ESA revealed significant semantic influences in the sequence of words retrieved. In Experiment 2, we examined the test-retest reliability of different measures across three weekly tests in 40 young subjects. Different categories were used for each semantic (“animals”, “parts of the body”, and “foods”) and phonemic (letters “F”, “A”, and “S”) condition. After regressing out the influences of education and computer-use, we found that correct-word z-scores in the first session did not differ from those of the subjects in Experiment 1. Word production was uniformly greater in semantic than phonemic conditions. Intraclass correlation coefficients (ICCs) of correct-word z-scores were higher for phonemic (0.91) than semantic (0.77) tests. In semantic conditions, good reliability was also seen for the SOI (ICC = 0.68) and ESA-defined switches in semantic categories (ICC = 0.62). In Experiment 3, we examined the performance of subjects from Experiment 2 when instructed to malinger: 38% showed abnormal (p< 0.05) performance in semantic conditions. Simulated malingerers with abnormal scores could be distinguished with 80% sensitivity and 89% specificity from subjects with abnormal scores in Experiment 1 using lexical, temporal, and semantic measures. In Experiment 4, we tested patients with mild and severe traumatic brain injury (mTBI and sTBI). Patients with mTBI performed within the normal range, while patients with sTBI showed significant impairments in correct-word z-scores and category shifts. The lexical, temporal, and semantic measures of the C-VF provide an automated and comprehensive description of verbal fluency performance. PMID:27936001
Ben Jehuda, Ronen; Eisen, Binyamin; Shemer, Yuval; Mekies, Lucy N; Szantai, Agnes; Reiter, Irina; Cui, Huanhuan; Guan, Kaomei; Haron-Khun, Shiraz; Freimark, Dov; Sperling, Silke R; Gherghiceanu, Mihaela; Arad, Michael; Binah, Ofer
2018-02-01
Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine monophosphate kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial Wolff-Parkinson-White (WPW) syndrome. Patients carrying the R302Q mutation in PRKAG2 present with sinus bradycardia, escape rhythms, ventricular preexcitation, supraventricular tachycardia, and atrioventricular block. This mutation affects AMPK activity and increases glycogen storage in cardiomyocytes. The link between glycogen storage, WPW syndrome, HCM, and arrhythmias remains unknown. The purpose of this study was to investigate the pathological changes caused by the PRKAG2 mutation. We tested the hypothesis that patient's induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) display clinical aspects of the disease. Using clustered regularly interspaced short palindromic repeats (CRISPR) technology, we corrected the mutation and then generated isogenic iPSC-CMs. Action potentials were recorded from spontaneously firing and paced cardiomyocytes using the patch clamp technique. Using a microelectrode array setup, we recorded electrograms from iPSC-CMs clusters. Transmission electron microscopy was used to detect ultrastructural abnormalities in the mutated iPSC-CMs. PRKAG2-mutated iPSC-CMs exhibited abnormal firing patterns, delayed afterdepolarizations, triggered arrhythmias, and augmented beat rate variability. Importantly, CRISPR correction eliminated the electrophysiological abnormalities, the augmented glycogen, storage, and cardiomyocyte hypertrophy. PRKAG2-mutated iPSC-CMs displayed functional and structural abnormalities, which were abolished by correcting the mutation in the patient's iPSCs using CRISPR technology. Copyright © 2017 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.
Fluid therapy in small ruminants and camelids.
Jones, Meredyth; Navarre, Christine
2014-07-01
Body water, electrolytes, and acid-base balance are important considerations in the evaluation and treatment of small ruminants and camelids with any disease process, with restoration of these a priority as adjunctive therapy. The goals of fluid therapy should be to maintain cardiac output and tissue perfusion, and to correct acid-base and electrolyte abnormalities. Hypoglycemia, hyperkalemia, and acidosis are the most life-threatening abnormalities, and require most immediate correction. Copyright © 2014 Elsevier Inc. All rights reserved.
Orthotopic Liver Transplantation for Urea Cycle Enzyme Deficiency
Todo, Satoru; Starzl, Thomas E.; Tzakis, Andreas; Benkov, Keith J.; Kalousek, Frantisek; Saheki, Takeyori; Tanikawa, Kyuichi; Fenton, Wayne A.
2010-01-01
Hyperammonemia, abnormalities in plasma amino acids and abnormalities of standard liver functions were corrected by orthotopic liver transplantation in a 14-day-old boy with carbamyl phosphate synthetase-I deficiency and in a 35-yr-old man with argininosuccinic acid synthetase deficiency. The first patient had high plasma glutamine levels and no measureable citrulline, whereas citrulline values were markedly increased in Patient 2. Enzyme analysis of the original livers showed undetectable activity of carbamyl phosphate synthetase-I in Patient 1 and arginosuccinic acid synthetase in Patient 2. Both patients were comatose before surgery. Intellectual recovery of patient 1 has been slightly retarded because of a brain abscess caused by Aspergillus infection after surgery. Both patients are well at 34 and 40 mo, respectively, after surgery. Our experience has shown that orthotopic liver transplantation corrects the life-threatening metabolic abnormalities caused by deficiencies in the urea cycle enzymes carbamyl phosphate synthetase-I and arginosuccinic acid synthetase. Seven other patients–six with ornithine transcarbamylase deficiency and another with carbamyl phosphate synthetase-I deficiency–are known to have been treated elsewhere with liver transplantation 1½ yr or longer ago. Four of these seven recipients also are well, with follow-ups of 1½ to 5 yr. Thus liver transplantation corrects the metabolic abnormalities of three of the six urea cycle enzyme deficiencies, and presumably would correct all. PMID:1544622
A survey of the accuracy of interpretation of intraoperative cholangiograms.
Sanjay, Pandanaboyana; Tagolao, Sherry; Dirkzwager, Ilse; Bartlett, Adam
2012-10-01
There are few data in the literature regarding the ability of surgical trainees and surgeons to correctly interpret intraoperative cholangiograms (IOCs) during laparoscopic cholecystectomy (LC). The aim of this study was to determine the accuracy of surgeons' interpretations of IOCs. Fifteen IOCs, depicting normal, variants of normal and abnormal anatomy, were sent electronically in random sequence to 20 surgical trainees and 20 consultant general surgeons. Information was also sought on the routine or selective use of IOC by respondents. The accuracy of IOC interpretation was poor. Only nine surgeons and nine trainees correctly interpreted the cholangiograms showing normal anatomy. Six consultant surgeons and five trainees correctly identified variants of normal anatomy on cholangiograms. Abnormal anatomy on cholangiograms was identified correctly by 18 consultant surgeons and 19 trainees. Routine IOC was practised by seven consultants and six trainees. There was no significant difference between those who performed routine and selective IOC with respect to correct identification of normal, variant and abnormal anatomy. The present study shows that the accuracy of detection of both normal and variants of normal anatomy was poor in all grades of surgeon irrespective of a policy of routine or selective IOC. Improving operators' understanding of biliary anatomy may help to increase the diagnostic accuracy of IOC interpretation. © 2012 International Hepato-Pancreato-Biliary Association.
A survey of the accuracy of interpretation of intraoperative cholangiograms
Sanjay, Pandanaboyana; Tagolao, Sherry; Dirkzwager, Ilse; Bartlett, Adam
2012-01-01
Objectives There are few data in the literature regarding the ability of surgical trainees and surgeons to correctly interpret intraoperative cholangiograms (IOCs) during laparoscopic cholecystectomy (LC). The aim of this study was to determine the accuracy of surgeons' interpretations of IOCs. Methods Fifteen IOCs, depicting normal, variants of normal and abnormal anatomy, were sent electronically in random sequence to 20 surgical trainees and 20 consultant general surgeons. Information was also sought on the routine or selective use of IOC by respondents. Results The accuracy of IOC interpretation was poor. Only nine surgeons and nine trainees correctly interpreted the cholangiograms showing normal anatomy. Six consultant surgeons and five trainees correctly identified variants of normal anatomy on cholangiograms. Abnormal anatomy on cholangiograms was identified correctly by 18 consultant surgeons and 19 trainees. Routine IOC was practised by seven consultants and six trainees. There was no significant difference between those who performed routine and selective IOC with respect to correct identification of normal, variant and abnormal anatomy. Conclusions The present study shows that the accuracy of detection of both normal and variants of normal anatomy was poor in all grades of surgeon irrespective of a policy of routine or selective IOC. Improving operators' understanding of biliary anatomy may help to increase the diagnostic accuracy of IOC interpretation. PMID:22954003
Olsen, Joy E; Allinson, Leesa G; Doyle, Lex W; Brown, Nisha C; Lee, Katherine J; Eeles, Abbey L; Cheong, Jeanie L Y; Spittle, Alicia J
2018-01-01
To examine the associations between Prechtl's General Movements Assessment (GMA), conducted from birth to term-equivalent age, and neurodevelopmental outcomes at 12 months corrected age, in infants born very preterm. One hundred and thirty-seven infants born before 30 weeks' gestation had serial GMA (categorized as 'normal' or 'abnormal') before term and at term-equivalent age. At 12 months corrected age, neurodevelopment was assessed using the Alberta Infant Motor Scale (AIMS); Neurological, Sensory, Motor, Developmental Assessment (NSMDA); and Touwen Infant Neurological Examination (TINE). The relationships between GMA at four time points and 12-month neurodevelopmental assessments were examined using regression models. Abnormal GMA at all time points were associated with worse continuous scores on the AIMS, NSMDA, and TINE (p<0.05). Abnormal GMA before term and at term-equivalent age were associated with increased odds of mild-severe dysfunction on the NSMDA (odds ratio [OR] 4.26, 95% confidence interval [CI] 1.55-11.71, p<0.01; and OR 4.16, 95% CI 1.55-11.17, p<0.01 respectively) and abnormal GMA before term with increased odds of suboptimal-abnormal motor function on the TINE (OR 2.75, 95% CI 1.10-6.85, p=0.03). Abnormal GMA before term and at term-equivalent age were associated with worse neurodevelopment at 12 months corrected age in children born very preterm. Abnormal general movements before term predict developmental deficits at 1 year in infants born very preterm. General Movements Assessment before term identifies at-risk infants born very preterm. © 2017 Mac Keith Press.
ANOMALOUS HEAD POSTURES IN STRABISMUS AND NYSTAGMUS - DIAGNOSIS AND MANAGEMENT -
Teodorescu, Luminita
2015-01-01
Abnormal head positions are adopted in order to improve visual acuity, to avoid diplopia or to obtain a more comfortable binocular vision. The head can be turned or tilted toward right or left, with the chin rotated up or downwards or combination of these positions. The ophthalmologic examination including the assessment of versions leads to the diagnosis. When versions are free, the cause may be congenital nystagmus or strabismus with large angle. When versions are limited we suspect paralytic or restrictive strabismus. The head tilted to one shoulder suggests cyclotropia (IV Nerve Palsy) or congenital nystagmus. We present few of the above cases. An adequate surgical treatment can improve or correct the ocular deviation, diplopia and the abnormal head posture. Conclusions: The abnormal head posture must be assessed and treated early in order to correct the ocular position and head posture. All patient presenting abnormal head position HAD TO BE investigated by an ophthalmologist. PMID:26978880
Pectus excavatum in children: pulmonary scintigraphy before and after corrective surgery
DOE Office of Scientific and Technical Information (OSTI.GOV)
Blickman, J.G.; Rosen, P.R.; Welch, K.J.
1985-09-01
Regional distribution of pulmonary function was evaluated preoperatively and postoperatively with xenon-133 perfusion and ventilation scintigraphy in 17 patients with pectus excavatum. Ventilatory preoperative studies were abnormal in 12 of 17 patients, resolving in seven of 12 postoperatively. Perfusion scans were abnormal in ten of 17 patients preoperatively; six of ten showed improvement postoperatively. Ventilation-perfusion ratios were abnormal in ten of 17 patients, normalizing postoperatively in six of ten. Symmetry of ventilation-perfusion ratio images improved in six out of nine in the latter group. The distribution of regional lung function in pectus excavatum can be evaluated preoperatively to support indicationsmore » for surgery. Postoperative improvement can be documented by physiological changes produced by the surgical correction.« less
Bronchial abnormalities found in a consecutive series of 40 brachycephalic dogs.
De Lorenzi, Davide; Bertoncello, Diana; Drigo, Michele
2009-10-01
To detect abnormalities of the lower respiratory tract (trachea, principal bronchi, and lobar bronchi) in brachycephalic dogs by use of endoscopy, evaluate the correlation between laryngeal collapse and bronchial abnormalities, and determine whether dogs with bronchial abnormalities have a less favorable postsurgical long-term outcome following correction of brachycephalic syndrome. Prospective case series study. 40 client-owned brachycephalic dogs with stertorous breathing and clinical signs of respiratory distress. Brachycephalic dogs anesthetized for pharyngoscopy and laryngoscopy between January 2007 and June 2008 underwent flexible bronchoscopy for systematic evaluation of the principal and lobar bronchi. For dogs that underwent surgical correction of any component of brachycephalic syndrome, owners rated surgical outcome during a follow-up telephone survey. Correlation between laryngeal collapse and bronchial abnormalities and association between bronchial abnormalities and long-term outcome were assessed. Pugs (n = 20), English Bulldogs (13), and French Bulldogs (7) were affected. A fixed bronchial collapse was recognized in 35 of 40 dogs with a total of 94 bronchial stenoses. Abnormalities were irregularly distributed between hemithoraces; 15 of 94 bronchial abnormalities were detected in the right bronchial system, and 79 of 94 were detected in the left. The left cranial bronchus was the most commonly affected structure, and Pugs were the most severely affected breed. Laryngeal collapse was significantly correlated with severe bronchial collapse; no significant correlation was found between severity of bronchial abnormalities and postsurgical outcome. Bronchial collapse was a common finding in brachycephalic dogs, and long-term postsurgical outcome was not affected by bronchial stenosis.
Cho, Woojin; Lenke, Lawrence G; Bridwell, Keith H; Hu, Guangxun; Buchowski, Jacob M; Dorward, Ian G; Pahys, Joshua M; Cho, Samuel K; Kang, Matthew M; Zebala, Lukas P; Koester, Linda A
2014-10-01
Retrospective. The purpose of this study was to report the prevalence of abnormal neurological findings detected by physical examination in Scheuermann kyphosis and to correlate it to radiographs, magnetic resonance imaging (MRI) findings, and results of operative treatment. There have been sporadic reports about abnormal neurological findings in patients with Scheuermann kyphosis. Among 82 patients with Scheuermann kyphosis who underwent corrective surgery, 69 primary cases were selected. Patients' charts were reviewed retrospectively in terms of pre and postoperative neurological examinations. Sensory or motor change was defined as an abnormal neurological examination. Their duration, associated problems, and various parameters on preoperative radiographs and MRI examinations were also measured to search for any atypical findings associated with an abnormal neurological examination. There were 6 cases (9%) (group AbN), with an abnormal neurological examination ranging from severe myelopathy to a subtle change (e.g., sensory paresthesias on trunk). Five patients recovered to a normal neurological examination after corrective surgery. The remaining 1 patient with severe myelopathy also showed marked improvement and was ambulatory unassisted by 2-year follow-up. In patients with a normal neurological examination (group N, n = 63), only 1 patient had neurological sequelae because of anterior spinal artery syndrome after combined anterior-posterior correction. No preoperative radiographical parameters were significantly different between groups. Average age was 21.3 (AbN) and 18.6 (N) years (P = 0.55). Average preoperative T5-12 kyphosis was 69.0° (AbN) and 72.5° (N) (P = 0.61). Forty-two magnetic resonance images were obtained and all showed typical findings of Scheuermann kyphosis. Five patients in the AbN group (1 patient underwent computed tomography/myelography) and 37 patients in the N group underwent an MRI. The prevalence of abnormal neurological findings in Scheuermann kyphosis was 9%, emphasizing the importance of performing a detailed preoperative neurological examination. If congenital stenosis or a herniated thoracic disc is present, myelopathy can occur. No radiographical findings correlated with the abnormal preoperative neurological examinations. A normal MRI can exist in the face of an abnormal neurological examination, and conversely, a normal neurological examination can be seen with an abnormal MRI. Surgery was successful in alleviating abnormal neurological issues. 4.
Shih, Ching-Hsiang; Shih, Ching-Tien; Chu, Chiung-Ling
2010-01-01
The latest researches adopted software technology turning the Nintendo Wii Balance Board into a high performance change of standing posture (CSP) detector, and assessed whether two persons with multiple disabilities would be able to control environmental stimulation using body swing (changing standing posture). This study extends Wii Balance Board functionality for standing posture correction (i.e., actively adjust abnormal standing posture) to assessed whether two persons with multiple disabilities would be able to actively correct their standing posture by controlling their favorite stimulation on/off using a Wii Balance Board with a newly developed standing posture correcting program (SPCP). The study was performed according to an ABAB design, in which A represented baseline and B represented intervention phases. Data showed that both participants significantly increased time duration of maintaining correct standing posture (TDMCSP) to activate the control system to produce environmental stimulation during the intervention phases. Practical and developmental implications of the findings were discussed.
Tang, Mariann; Fenger-Eriksen, Christian; Wierup, Per; Greisen, Jacob; Ingerslev, Jørgen; Hjortdal, Vibeke; Sørensen, Benny
2017-06-01
Cardiac surgery may cause a serious coagulopathy leading to increased risk of bleeding and transfusion demands. Blood bank products are commonly first line haemostatic intervention, but has been associated with hazardous side effect. Coagulation factor concentrates may be a more efficient, predictable, and potentially a safer treatment, although prospective clinical trials are needed to further explore these hypotheses. This study investigated the haemostatic potential of ex vivo supplementation of coagulation factor concentrates versus blood bank products on blood samples drawn from patients undergoing cardiac surgery. 30 adults were prospectively enrolled (mean age=63.9, females=27%). Ex vivo haemostatic interventions (monotherapy or combinations) were performed in whole blood taken immediately after surgery and two hours postoperatively. Fresh-frozen plasma, platelets, cryoprecipitate, fibrinogen concentrate, prothrombin complex concentrate (PCC), and recombinant FVIIa (rFVIIa) were investigated. The haemostatic effect was evaluated using whole blood thromboelastometry parameters, as well as by thrombin generation. Immediately after surgery the compromised maximum clot firmness was corrected by monotherapy with fibrinogen or platelets or combination therapy with fibrinogen. At two hours postoperatively the coagulation profile was further deranged as illustrated by a prolonged clotting time, a reduced maximum velocity and further diminished maximum clot firmness. The thrombin lagtime was progressively prolonged and both peak thrombin and endogenous thrombin potential were compromised. No monotherapy effectively corrected all haemostatic abnormalities. The most effective combinations were: fibrinogen+rFVIIa or fibrinogen+PCC. Blood bank products were not as effective in the correction of the coagulopathy. Coagulation factor concentrates appear to provide a more optimal haemostasis profile following cardiac surgery compared to blood bank products. Copyright © 2017 Elsevier Ltd. All rights reserved.
Sugimoto, Mitsushige; Hasegawa, Tomohiko; Nishino, Masafumi; Sahara, Shu; Uotani, Takahiro; Ichikawa, Hitomi; Kagami, Takuma; Sugimoto, Ken; Yamato, Yu; Togawa, Daisuke; Kobayashi, Sho; Hoshino, Hironobu; Matsuyama, Yukihiro; Furuta, Takahisa
2016-01-01
Spinal kyphotic deformity occasionally results in gastroesophageal reflux disease (GERD). The effects of acid reflux on the esophagus in kyphotic patients are unclear, however, and it is unknown whether acid reflux, endoscopic GERD, and reflux-related symptoms improve following surgical spinal correction in these patients. Herein, we investigated the characteristics of GERD in kyphotic patients and the improvement in GERD following surgical correction. In 48 patients with severe kyphotic deformity scheduled for surgical spinal correction, we conducted esophagogastroduodenoscopy, 24-h pH monitoring and three questionnaire surveys, including the frequency scale for the symptoms of GERD (FSSG). We repeated these measurements after surgical correction and compared pre- and post-surgery values. Of 48 patients, 70.8% [95% CI: 55.9-83.0%, 34/48] had endoscopically evaluated esophageal mucosal injury. Regarding pH before surgery, 64.9% (CI: 47.5-79.8%, 24/37) had abnormal acid reflux (intraesophageal pH < 4 more than 5% of the time). FSSG score was significantly associated with the severity of GERD, and the positive rate was 52.6% (CI: 35.8-69.0%, 20/38). Following surgical correction, esophageal mucosal injury improved endoscopically in 90% of patients, and median total FSSG score significantly decreased from 8 (0-30) to 5 (0-19) (P = 0.005). Regarding pH after surgery, prevalence of abnormal acid reflux decreased from 66.7% (95% CI: 41.0-86.7%) to 33.3% (95% CI: 13.3-59.0%) (P = 0.045). Surgical spinal correction in kyphosis patients improves not only kyphotic deformity-related disorders but also esophageal mucosal injury, abnormal acid reflux, and reflux-related symptoms. © 2015 Japan Gastroenterological Endoscopy Society.
Zhang, Shiqiang; Chen, Shen; Li, Wen; Guo, Xiangpeng; Zhao, Ping; Xu, Jianyong; Chen, Yan; Pan, Qiong; Liu, Xiaorong; Zychlinski, Daniela; Lu, Hai; Tortorella, Micky D; Schambach, Axel; Wang, Yan; Pei, Duanqing; Esteban, Miguel A
2011-08-15
Directed hepatocyte differentiation from human induced pluripotent stem cells (iPSCs) potentially provides a unique platform for modeling liver genetic diseases and performing drug-toxicity screening in vitro. Wilson's disease is a genetic disease caused by mutations in the ATP7B gene, whose product is a liver transporter protein responsible for coordinated copper export into bile and blood. Interestingly, the spectrum of ATP7B mutations is vast and can influence clinical presentation (a variable spectrum of hepatic and neural manifestations), though the reason is not well understood. We describe the generation of iPSCs from a Chinese patient with Wilson's disease that bears the R778L Chinese hotspot mutation in the ATP7B gene. These iPSCs were pluripotent and could be readily differentiated into hepatocyte-like cells that displayed abnormal cytoplasmic localization of mutated ATP7B and defective copper transport. Moreover, gene correction using a self-inactivating lentiviral vector that expresses codon optimized-ATP7B or treatment with the chaperone drug curcumin could reverse the functional defect in vitro. Hence, our work describes an attractive model for studying the pathogenesis of Wilson's disease that is valuable for screening compounds or gene therapy approaches aimed to correct the abnormality. In the future, once relevant safety concerns (including the stability of the mature liver-like phenotype) and technical issues for the transplantation procedure are solved, hepatocyte-like cells from similarly genetically corrected iPSCs could be an option for autologous transplantation in Wilson's disease.
Mehta, Manish; Jacobson, Timothy; Peters, Dawn; Le, Elizabeth; Chadderdon, Scott; Allen, Allison J; Caughey, Aaron B; Kaul, Sanjiv
2014-10-01
The purpose of this study was to test the hypothesis that handheld ultrasound (HHU) provides a more accurate diagnosis than physical examination in patients with suspected cardiovascular abnormalities and that its use thus reduces additional testing and overall costs. Despite the limitations of physical examination and the demonstrated superiority of HHU for detecting cardiac abnormalities, it is not routinely used for the bedside diagnosis of cardiac conditions. Patients referred for a standard echocardiogram for common indications (cardiac function, murmur, stroke, arrhythmias, and miscellaneous) underwent physical examination and HHU by different cardiologists, who filled out a form that also included suggestions for additional testing, if necessary, based on their findings. Of 250 patients, 142 had an abnormal finding on standard echocardiogram. Of these, HHU correctly identified 117 patients (82%), and physical examination correctly identified 67 (47%, p < 0.0001). HHU was superior to physical examination (p < 0.0001) for both normal and abnormal cardiac function. It was also superior to physical examination in correctly identifying the presence of substantial valve disease (71% vs. 31%, p = 0.0003) and in identifying miscellaneous findings (47% vs. 3%, p < 0.0001). Of 108 patients without any abnormalities on standard echocardiography, further testing was suggested for 89 (82%) undergoing physical examination versus only 60 (56%) undergoing HHU (p < 0.0001). Cost modeling showed that HHU had an average cost of $644.43 versus an average cost of $707.44 for physical examination. This yielded a savings of $63.01 per patient when HHU was used versus physical examination. When used by cardiologists, HHU provides a more accurate diagnosis than physical examination for the majority of common cardiovascular abnormalities. The finding of no significant abnormality on HHU is also likely to result in less downstream testing and thus potentially reduce the overall cost for patients being evaluated for a cardiovascular diagnosis. Copyright © 2014 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
Simmonite, Molly; Bates, Alan Thomas; Groom, Madeleine; Hollis, Chris; Liddle, Peter Francis
2015-04-30
Low-frequency oscillations in the electroencephalogram (EEG) have been found to be abnormal in patients with schizophrenia. It is unclear, however, whether these abnormalities are related to severity of illness or are a marker for risk. This study investigated total and evoked theta and delta activity in schizophrenia patients, unaffected siblings, and healthy controls (HCs). EEG data were recorded whilst 24 individuals with schizophrenia, 26 unaffected siblings of individuals with schizophrenia and 26 healthy control participants completed a Go/No-Go task. Event-related total activity and evoked theta and delta activity were calculated for correct hits (CH), failed inhibitions (FI) and correct inhibitions (CI) trials. Patients displayed significantly less total delta, evoked delta, total theta and evoked theta activity when compared with healthy controls. Unaffected siblings displayed abnormalities of evoked delta, but other measures were similar to those in control participants. The findings of this study add to evidence that abnormal low-frequency EEG oscillations contribute to impairments in information processing seen in schizophrenia. These findings also suggest abnormal evoked delta oscillations are associated with an increased familial risk of developing the disorder. Copyright © 2015. Published by Elsevier Ireland Ltd.
Improving Novice Radiology Trainees' Perception Using Fine Art.
Goodman, Thomas Rob; Kelleher, Michael
2017-10-01
To determine if fine art perception training improved performance in novice radiology trainees. On the first day of their residency, 15 radiology residents underwent a basic radiology perception test in which they were shown 15 different radiographs that each had a significant abnormality. This was followed by a focused session of interpretation training at a local art gallery where art experts taught the trainees how to thoroughly analyze a painting. After this fine art session, the residents were once again shown 15 different radiographs and asked, in the same manner as before, to identify the location of the abnormality. The results of both radiograph assessments were then compared. The 15 residents correctly identified the areas of abnormality on 35 of 225 cases pre-art training with a mean score of 2.33 and a SD of 1.4. After art training, the figure for correctly identifying the area of abnormality rose to 94 of 225 cases with a mean score of 6.27 and a SD of 1.79 (P < .0001). The implementation of a focused teaching session on perception improved first-year residents' ability to localize imaging abnormalities. This improvement was significant (P < .0001). Most errors in radiology occur due to failures of perception rather than failures to correctly interpret a finding and, as such, it behooves the profession to ensure that perception training is adequately addressed as part of a radiology training curriculum. Using an art gallery may be a novel, effective transitional starting point for novice radiology trainees. Copyright © 2017. Published by Elsevier Inc.
Wilson, Bailey; Burt, Bryan; Baker, Byron; Clark, Steven L; Belfort, Michael; Gandhi, Manisha
2016-01-01
Spontaneous pneumothorax during pregnancy has potentially serious implications for the mother and fetus. When surgical correction is required, complex maternal physiologic alterations may significantly affect fetal well-being. A woman underwent thoracoscopic lung resection and pleurodesis at 29 weeks of gestation. At various points during the procedure, maternal hemodynamic and respiratory consequences of anesthetic and surgical management resulted in severe fetal heart rate (FHR) decelerations and bradycardia. In each instance, physiologic manipulations based on an understanding of the likely cause of fetal hypoxia allowed correction of the FHR abnormalities without delivery. Nonsurgical perinatal intervention based on FHR monitoring and analysis of the likely pathophysiologic abnormalities underlying fetal decelerations may allow the gravid woman to undergo complex procedures and continue the pregnancy.
Airway surface liquid homeostasis in cystic fibrosis: pathophysiology and therapeutic targets.
Haq, Iram J; Gray, Michael A; Garnett, James P; Ward, Christopher; Brodlie, Malcolm
2016-03-01
Cystic fibrosis (CF) is a life-limiting disease characterised by recurrent respiratory infections, inflammation and lung damage. The volume and composition of the airway surface liquid (ASL) are important in maintaining ciliary function, mucociliary clearance and antimicrobial properties of the airway. In CF, these homeostatic mechanisms are impaired, leading to a dehydrated and acidic ASL. ASL volume depletion in CF is secondary to defective anion transport by the abnormal cystic fibrosis transmembrane conductance regulator protein (CFTR). Abnormal CFTR mediated bicarbonate transport creates an unfavourable, acidic environment, which impairs antimicrobial function and alters mucus properties and clearance. These disease mechanisms create a disordered airway milieu, consisting of thick mucopurulent secretions and chronic bacterial infection. In addition to CFTR, there are additional ion channels and transporters in the apical airway epithelium that play a role in maintaining ASL homeostasis. These include the epithelial sodium channel (ENaC), the solute carrier 26A (SLC26A) family of anion exchangers, and calcium-activated chloride channels. In this review we discuss how the ASL is abnormal in CF and how targeting these alternative channels and transporters could provide an attractive therapeutic strategy to correct the underlying ASL abnormalities evident in CF. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
Clinical trials of GMP products in the gene therapy field.
Bamford, Kathleen B
2011-01-01
Advances in gene therapy are increasingly leading to clinical assessment in many fields of medicine with diverse approaches. The basic science stems from approaches aimed at different functions such as correcting a missing/abnormal gene, altering the proportion or expression of normal genes to augment a physiological process or using this principle to destroy malignant or infected cells. As the technology advances, it is increasingly important to ensure that clinical trials answer the questions that need to be asked. In this chapter we review examples of published clinical trials, resources for accessing information about registered trials, the process of regulating trials, good clinical practice, and good manufacturing practice as well as summarising the approach taken by regulatory authorities in reviewing applications for the introduction of products for use in the clinic.
Garçon, Loïc; Ge, Jingping; Manjunath, Shwetha H.; Mills, Jason A.; Apicella, Marisa; Parikh, Shefali; Sullivan, Lisa M.; Podsakoff, Gregory M.; Gadue, Paul; French, Deborah L.; Mason, Philip J.; Bessler, Monica
2013-01-01
Diamond Blackfan anemia (DBA) is a congenital disorder with erythroid (Ery) hypoplasia and tissue morphogenic abnormalities. Most DBA cases are caused by heterozygous null mutations in genes encoding ribosomal proteins. Understanding how haploinsufficiency of these ubiquitous proteins causes DBA is hampered by limited availability of tissues from affected patients. We generated induced pluripotent stem cells (iPSCs) from fibroblasts of DBA patients carrying mutations in RPS19 and RPL5. Compared with controls, DBA fibroblasts formed iPSCs inefficiently, although we obtained 1 stable clone from each fibroblast line. RPS19-mutated iPSCs exhibited defects in 40S (small) ribosomal subunit assembly and production of 18S ribosomal RNA (rRNA). Upon induced differentiation, the mutant clone exhibited globally impaired hematopoiesis, with the Ery lineage affected most profoundly. RPL5-mutated iPSCs exhibited defective 60S (large) ribosomal subunit assembly, accumulation of 12S pre-rRNA, and impaired erythropoiesis. In both mutant iPSC lines, genetic correction of ribosomal protein deficiency via complementary DNA transfer into the “safe harbor” AAVS1 locus alleviated abnormalities in ribosome biogenesis and hematopoiesis. Our studies show that pathological features of DBA are recapitulated by iPSCs, provide a renewable source of cells to model various tissue defects, and demonstrate proof of principle for genetic correction strategies in patient stem cells. PMID:23744582
Garçon, Loïc; Ge, Jingping; Manjunath, Shwetha H; Mills, Jason A; Apicella, Marisa; Parikh, Shefali; Sullivan, Lisa M; Podsakoff, Gregory M; Gadue, Paul; French, Deborah L; Mason, Philip J; Bessler, Monica; Weiss, Mitchell J
2013-08-08
Diamond Blackfan anemia (DBA) is a congenital disorder with erythroid (Ery) hypoplasia and tissue morphogenic abnormalities. Most DBA cases are caused by heterozygous null mutations in genes encoding ribosomal proteins. Understanding how haploinsufficiency of these ubiquitous proteins causes DBA is hampered by limited availability of tissues from affected patients. We generated induced pluripotent stem cells (iPSCs) from fibroblasts of DBA patients carrying mutations in RPS19 and RPL5. Compared with controls, DBA fibroblasts formed iPSCs inefficiently, although we obtained 1 stable clone from each fibroblast line. RPS19-mutated iPSCs exhibited defects in 40S (small) ribosomal subunit assembly and production of 18S ribosomal RNA (rRNA). Upon induced differentiation, the mutant clone exhibited globally impaired hematopoiesis, with the Ery lineage affected most profoundly. RPL5-mutated iPSCs exhibited defective 60S (large) ribosomal subunit assembly, accumulation of 12S pre-rRNA, and impaired erythropoiesis. In both mutant iPSC lines, genetic correction of ribosomal protein deficiency via complementary DNA transfer into the "safe harbor" AAVS1 locus alleviated abnormalities in ribosome biogenesis and hematopoiesis. Our studies show that pathological features of DBA are recapitulated by iPSCs, provide a renewable source of cells to model various tissue defects, and demonstrate proof of principle for genetic correction strategies in patient stem cells.
Acetazolamide in the treatment of metabolic alkalosis in critically ill patients.
Marik, P E; Kussman, B D; Lipman, J; Kraus, P
1991-09-01
Metabolic alkalosis is a common acid-base disturbance in critically ill patients. In many patients correction of fluid and electrolyte status does not fully correct the metabolic derangement. In this study we examined the effect of 500 mg of intravenous acetazolamide, after correcting for fluid and electrolyte abnormalities, on the acid-base status of 30 ventilated patients. In all patients studied there was a fall of total serum bicarbonate; the mean reduction at 24 hours was 6.4 mmol/L, with a normalization of the base excess and pH. The onset of action was rapid (within 2 hours), and the maximal effect occurred at a mean of 15.5 hours, although there was wide variation. The effect of acetazolamide was still apparent at 48 hours. No adverse effects were noted. We conclude that in patients with metabolic alkalosis, once fluid and electrolyte abnormalities have been corrected, acetazolamide is an effective and safe form of therapy with a quick onset and long duration of action.
Intra-Ocular Pressure Measurement in a Patient with a Thin, Thick or Abnormal Cornea.
Clement, Colin I; Parker, Douglas G A; Goldberg, Ivan
2016-01-01
Accurate measurement of intra-ocular pressure is a fundamental component of the ocular examination. The most common method of measuring IOP is by Goldmann applanation tonometry, the accuracy of which is influenced by the thickness and biomechanical properties of the cornea. Algorithms devised to correct for corneal thickness to estimate IOP oversimplify the effects of corneal biomechanics. The viscous and elastic properties of the cornea influence IOP measurements in unpredictable ways, a finding borne out in studies of patients with inherently abnormal and surgically altered corneal biomechanics. Dynamic contour tonometry, rebound tonometry and the ocular response analyzer provide useful alternatives to GAT in patients with abnormal corneas, such as those who have undergone laser vision correction or keratoplasty. This article reviews the various methods of intra-ocular pressure measurement available to the clinician and the ways in which their utility is influenced by variations in corneal thickness and biomechanics.
Computer-Aided Diagnostic System For Mass Survey Chest Images
NASA Astrophysics Data System (ADS)
Yasuda, Yoshizumi; Kinoshita, Yasuhiro; Emori, Yasufumi; Yoshimura, Hitoshi
1988-06-01
In order to support screening of chest radiographs on mass survey, a computer-aided diagnostic system that automatically detects abnormality of candidate images using a digital image analysis technique has been developed. Extracting boundary lines of lung fields and examining their shapes allowed various kind of abnormalities to be detected. Correction and expansion were facilitated by describing the system control, image analysis control and judgement of abnormality in the rule type programing language. In the experiments using typical samples of student's radiograms, good results were obtained for the detection of abnormal shape of lung field, cardiac hypertrophy and scoliosis. As for the detection of diaphragmatic abnormality, relatively good results were obtained but further improvements will be necessary.
Xiaobing, Li
2016-12-01
The etiology of malocclusions basically involves both congenital and environmental factors. Malocclusion is the result of the abnormal development of the orofacial complex (including tooth, dental alveolar bone, upper and lower jaws). Early orthodontic interceptive treatments involve the elimination of all congenital and environmental factors that contribute to the malformation of the orofacial complex, as well as interrupt the deviated development of the orofacial complex and the occlusion. Early orthodontic interceptive treatments mainly aim to use children's growth potential to correct abnormal developments of occlusions and orthodontically treat malocclusions more efficiently. The early orthodontic interceptive treatments include correcting the child's bad oral habits, training the abnormal functioned para-oral muscles, maintaining the normal eruptions of succeeding permanent teeth, applying interceptive treatments to the mal-developed teeth, and employing functional orthopedic treatments for abnormal growths of the upper and lower jaws. In orthodontics, correcting mal-positioned teeth is called orthodontic treatment, while rectifying the abnormal relationships of the upper and lower jaws is called functional orthopedic treatment. However, no clear definition is available as regards to the early orthodontic interceptive treatment of malocclusions caused by the deviated development of the dental alveolar bone. This new theory of "early dental alveolar bone and dental arch remodeling technique" was proposed by Professor Li Xiaobing of the Department of Pediatric Dentistry, Faculty of Pediatric Dentistry and Orthodontics in West China Hospital of Stomatology through his clinical analyses and investigation of his early orthodontic interceptive treatments. He defined the early orthodontic corrections of abnormal growth of dental alveolar bone as "remodel". The "early dental alveolar bone and dental arch remodeling theory and technique" is proved useful in malocclusion diagnosis and treatment planning during early orthodontic interceptive treatment with malformed dental arch. With the development of the theory and technique, the author intended to prevent and intercept the malocclusion development more effectively and efficiently. This review presents the development and clinical usages of the theory which to provide a new vision in the analysis of malocclusions on the basis of the developmental mechanism of the alveolar bone and dental arch. With clinical case illustration, the author demonstrateshis successful orthodontic clinical practices with this theory, which may contribute to the development of contemporary orthodontic theories and techniques.
Metastatic pulmonary calcification in a dialysis patient: case report and a review.
Eggert, Christoph H; Albright, Robert C
2006-10-01
A 19-year-old male presented with chest pain and dyspnea. He was anephric following nephrectomy for focal segmental glomerulosclerosis, had a subsequent failed transplant, and had been dialysis dependent for 3 years. Workup revealed hyperparathyroidism and an abnormal chest X-ray and computed tomography scan, significant for massive extra-skeletal pulmonary calcification. A markedly abnormal Technitium99 methylene diphosphonate (Tc99m-MDP) bone scan confirmed the clinical suspicion of metastatic pulmonary calcification. Metastatic pulmonary calcification (MPC) is common, occurring in 60% to 80% of dialysis patients on autopsy and bone scan series. It may lead to impaired oxygenation and restrictive lung disease. Typically, the calcium crystal is whitlockite rather than hydroxyapatite, which occurs in vascular calcification. Four major predisposing factors may contribute to MPC in dialysis patients. First, chronic acidosis leaches calcium from bone. Second, intermittent alkalosis favors deposition of calcium salts. Third, hyperparathyroidism tends to cause bone resorption and intracellular hypercalcemia. Finally, low glomerular filtration rate can cause hyperphosphatemia and an elevated calcium-phosphorus product. There may be other factors. Some authors suggest that the incidence of MPC in recent years may be lower due to improved dialysis techniques. The diagnosis is confirmed by biopsy, but can be suspected by typical findings on a Tc99m-MDP bone scan. Therapy is limited to ensuring adequate dialysis, correcting calcium-phosphorus product, and hyperparathyroidism; discontinuing vitamin D analogues may help. Conflicting reports show that transplantation may either improve or worsen the situation. MPC should be considered in dialysis patients who have characteristic abnormal chest radiography and/or pulmonary symptoms.
Terashita, Yukari; Yamagata, Kazuo; Tokoro, Mikiko; Itoi, Fumiaki; Wakayama, Sayaka; Li, Chong; Sato, Eimei; Tanemura, Kentaro; Wakayama, Teruhiko
2013-01-01
Somatic cell nuclear transfer to an enucleated oocyte is used for reprogramming somatic cells with the aim of achieving totipotency, but most cloned embryos die in the uterus after transfer. While modifying epigenetic states of cloned embryos can improve their development, the production rate of cloned embryos can also be enhanced by changing other factors. It has already been shown that abnormal chromosome segregation (ACS) is a major cause of the developmental failure of cloned embryos and that Latrunculin A (LatA), an actin polymerization inhibitor, improves F-actin formation and birth rate of cloned embryos. Since F-actin is important for chromosome congression in embryos, here we examined the relation between ACS and F-actin in cloned embryos. Using LatA treatment, the occurrence of ACS decreased significantly whereas cloned embryo-specific epigenetic abnormalities such as dimethylation of histone H3 at lysine 9 (H3K9me2) could not be corrected. In contrast, when H3K9me2 was normalized using the G9a histone methyltransferase inhibitor BIX-01294, the Magea2 gene-essential for normal development but never before expressed in cloned embryos-was expressed. However, this did not increase the cloning success rate. Thus, non-epigenetic factors also play an important role in determining the efficiency of mouse cloning.
Liu, Jun; Ben-Shahar, Tom Rolef; Riemer, Dieter; Treinin, Millet; Spann, Perah; Weber, Klaus; Fire, Andrew; Gruenbaum, Yosef
2000-01-01
Caenorhabditis elegans has a single lamin gene, designated lmn-1 (previously termed CeLam-1). Antibodies raised against the lmn-1 product (Ce-lamin) detected a 64-kDa nuclear envelope protein. Ce-lamin was detected in the nuclear periphery of all cells except sperm and was found in the nuclear interior in embryonic cells and in a fraction of adult cells. Reductions in the amount of Ce-lamin protein produce embryonic lethality. Although the majority of affected embryos survive to produce several hundred nuclei, defects can be detected as early as the first nuclear divisions. Abnormalities include rapid changes in nuclear morphology during interphase, loss of chromosomes, unequal separation of chromosomes into daughter nuclei, abnormal condensation of chromatin, an increase in DNA content, and abnormal distribution of nuclear pore complexes (NPCs). Under conditions of incomplete RNA interference, a fraction of embryos escaped embryonic arrest and continue to develop through larval life. These animals exhibit additional phenotypes including sterility and defective segregation of chromosomes in germ cells. Our observations show that lmn-1 is an essential gene in C. elegans, and that the nuclear lamins are involved in chromatin organization, cell cycle progression, chromosome segregation, and correct spacing of NPCs. PMID:11071918
Karampetsou, Maria P; Comte, Denis; Kis-Toth, Katalin; Terhorst, Cox; Kyttaris, Vasileios C; Tsokos, George C
2016-06-15
T cells from patients with systemic lupus erythematosus (SLE) display a number of abnormalities, including increased early signaling events following engagement of the TCR. Signaling lymphocytic activation molecule family cell surface receptors and the X-chromosome-defined signaling lymphocytic activation molecule-associated protein (SAP) adaptor are important in the development of several immunocyte lineages and modulating the immune response. We present evidence that SAP protein levels are decreased in T cells and in their main subsets isolated from 32 women and three men with SLE, independent of disease activity. In SLE T cells, SAP protein is also subject to increased degradation by caspase-3. Forced expression of SAP in SLE T cells normalized IL-2 production, calcium (Ca(2+)) responses, and tyrosine phosphorylation of a number of proteins. Exposure of normal T cells to SLE serum IgG, known to contain anti-CD3/TCR Abs, resulted in SAP downregulation. We conclude that SLE T cells display reduced levels of the adaptor protein SAP, probably as a result of continuous T cell activation and degradation by caspase-3. Restoration of SAP levels in SLE T cells corrects the overexcitable lupus T cell phenotype. Copyright © 2016 by The American Association of Immunologists, Inc.
Siu King Cheung, Catherine; Tak Keung Lee, Warren; Kit Tse, Yee; Ping Tang, Sheng; Man Lee, Kwong; Guo, Xia; Qin, Lin; Chun Yiu Cheng, Jack
2003-09-15
A cross-sectional study of anthropometric parameters in adolescent idiopathic scoliosis (AIS). To compare anthropometric parameters and growth pattern of AIS girls versus normal controls during peri-puberty. Abnormal pattern of growth has been reported in AIS patients. The sequential changes of growth and the correlation with curve severity have not been properly studied. Five hundred ninety-eight AIS girls and 307 healthy girls entered the study. Weight, height, body mass index (BMI), arm span, sitting height, and leg length were determined using standard techniques. Height and sitting height were adjusted by using the greatest Cobb angle to correct for spinal deformity (Bjure's formula). Puberty was graded by Tanner's staging. AIS girls had significantly shorter height (P = 0.001), corrected height (P = 0.005), arm span (P = 0.022), sitting height (P = 0.005) and leg length (P = 0.004) than the controls at pubertal stage I. From pubertal stages II through V, corrected height (P
Validation of an improved abnormality insertion method for medical image perception investigations
NASA Astrophysics Data System (ADS)
Madsen, Mark T.; Durst, Gregory R.; Caldwell, Robert T.; Schartz, Kevin M.; Thompson, Brad H.; Berbaum, Kevin S.
2009-02-01
The ability to insert abnormalities in clinical tomographic images makes image perception studies with medical images practical. We describe a new insertion technique and its experimental validation that uses complementary image masks to select an abnormality from a library and place it at a desired location. The method was validated using a 4-alternative forced-choice experiment. For each case, four quadrants were simultaneously displayed consisting of 5 consecutive frames of a chest CT with a pulmonary nodule. One quadrant was unaltered, while the other 3 had the nodule from the unaltered quadrant artificially inserted. 26 different sets were generated and repeated with order scrambling for a total of 52 cases. The cases were viewed by radiology staff and residents who ranked each quadrant by realistic appearance. On average, the observers were able to correctly identify the unaltered quadrant in 42% of cases, and identify the unaltered quadrant both times it appeared in 25% of cases. Consensus, defined by a majority of readers, correctly identified the unaltered quadrant in only 29% of 52 cases. For repeats, the consensus observer successfully identified the unaltered quadrant only once. We conclude that the insertion method can be used to reliably place abnormalities in perception experiments.
To Correct or Not to Correct: Age Adjustment for Prematurity.
ERIC Educational Resources Information Center
Aylward, Glen P.; And Others
To evaluate whether conceptional or chronologic age should be used to determine scores in developmental follow-up studies, a study was made of 236 normal and 66 neurologically abnormal infants who were similar with respect to conceptional age but different with respect to degree of prematurity. Assessments of possible differences in cognitive and…
Common Leg Injuries of Long-Distance Runners
Gallo, Robert A.; Plakke, Michael; Silvis, Matthew L.
2012-01-01
Context Long-distance running (greater than 3000 m) is often recommended to maintain a healthy lifestyle. Running injury rates increase significantly when weekly mileage extends beyond 40 miles cumulatively. With the development of running analysis and other diagnostic tests, injuries to the leg secondary to bone, musculotendinous, and vascular causes can be diagnosed and successfully managed. Evidence Acquisition Searches used the terms running, injuries, lower extremity, leg, medial tibial stress syndrome, compartment syndrome, stress fractures, popliteal artery entrapment, gastrocnemius soleus tears, and Achilles tendinopathy. Sources included Medline, Google Scholar, and Ovid from 1970 through January 2012. Results Tibial stress fractures and medial tibial stress syndrome can sometimes be prevented and/or treated by correcting biomechanical abnormalities. Exertional compartment syndrome and popliteal artery entrapment syndrome are caused by anatomic abnormalities and are difficult to treat without surgical correction. Conclusion Leg pain due to bone, musculotendinous, and vascular causes is common among long-distance runners. Knowledge of the underlying biomechanical and/or anatomic abnormality is necessary to successfully treat these conditions. PMID:24179587
Brain pertechnetate SPECT in perinatal asphyxia
DOE Office of Scientific and Technical Information (OSTI.GOV)
Sfakianakis, G.; Curless, R.; Goldberg, R.
1984-01-01
Single photon emission computed tomography of the brain was performed in 6 patients with perinatal asphyxis aged 8-26 days. A single-head (LFOV) commercial SPECT system (Picker) was used and data were acquired 2-3 hr after an IV injection of 1-2 mCi Tc-99m-pertechnetate (360/sup 0/ rotation, 60 views, 64 x 64 matrix, 50K cts/view). Reconstruction in three planes was performed using MDS software (Hanning medium resolution filter, with or without attenuation correction using Sorenson's technique). For each clinical study, a ring type phantom source was used to identify the level of reconstruction noise in the tomographic planes. Abnormalities were found inmore » all patients studied, 3 central (moderate intensity), 2 peripheral (1 severe, 1 moderate) and 1 diffuse (mild intensity). Despite use of oral perchlorate (50 mg) in one patient the choroid plexus was visible. Since attenuation correction tended to amplify noise, the clinical studies were interpreted both with and without this correction. All 3 patients with central lesions were found abnormal on early (1-4 mo) neurologic follow-up examination, whereas the others were normal. No correlation was found between SPECT and 24 hr blood levels of CPK, ammonia, base excess, or the Apgar scores. Ct scans were reported abnormal (3 diffuse, 1 peripheral, 1 central and 1 questionable). Planar scintigrams obtained immediately after SPECT were normal (2), questionable (2) and abnormal (2). Follow-up SPECT brain scintigrams in two of the patients showed partial resolution. SPECT of the brain appears promising in perinatal asphyxia but long-term correlation with patient development is necessary.« less
Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit
2018-05-01
Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.
Cortical thickness and surface area in neonates at high risk for schizophrenia.
Li, Gang; Wang, Li; Shi, Feng; Lyall, Amanda E; Ahn, Mihye; Peng, Ziwen; Zhu, Hongtu; Lin, Weili; Gilmore, John H; Shen, Dinggang
2016-01-01
Schizophrenia is a neurodevelopmental disorder associated with subtle abnormal cortical thickness and cortical surface area. However, it is unclear whether these abnormalities exist in neonates associated with genetic risk for schizophrenia. To this end, this preliminary study was conducted to identify possible abnormalities of cortical thickness and surface area in the high-genetic-risk neonates. Structural magnetic resonance images were acquired from offspring of mothers (N = 21) who had schizophrenia (N = 12) or schizoaffective disorder (N = 9), and also matched healthy neonates of mothers who were free of psychiatric illness (N = 26). Neonatal cortical surfaces were reconstructed and parcellated as regions of interest (ROIs), and cortical thickness for each vertex was computed as the shortest distance between the inner and outer surfaces. Comparisons were made for the average cortical thickness and total surface area in each of 68 cortical ROIs. After false discovery rate (FDR) correction, it was found that the female high-genetic-risk neonates had significantly thinner cortical thickness in the right lateral occipital cortex than the female control neonates. Before FDR correction, the high-genetic-risk neonates had significantly thinner cortex in the left transverse temporal gyrus, left banks of superior temporal sulcus, left lingual gyrus, right paracentral cortex, right posterior cingulate cortex, right temporal pole, and right lateral occipital cortex, compared with the control neonates. Before FDR correction, in comparison with control neonates, male high-risk neonates had significantly thicker cortex in the left frontal pole, left cuneus cortex, and left lateral occipital cortex; while female high-risk neonates had significantly thinner cortex in the bilateral paracentral, bilateral lateral occipital, left transverse temporal, left pars opercularis, right cuneus, and right posterior cingulate cortices. The high-risk neonates also had significantly smaller cortical surface area in the right pars triangularis (before FDR correction), compared with control neonates. This preliminary study provides the first evidence that early development of cortical thickness and surface area might be abnormal in the neonates at genetic risk for schizophrenia.
NASA Astrophysics Data System (ADS)
Ravera, Emiliano Pablo; Catalfamo Formento, Paola Andrea; José Crespo, Marcos; Andrés Braidot, Ariel
2011-12-01
Cerebral Palsy represents the most common cause of physical disability in modern world and within the pediatrics orthopedics units. The gait analysis provides great contributions to the understanding of gait disorders in CP. Giving a more comprehensive treatment plan, including or excluding surgical procedures that can potentially decrease the number of surgical interventions in the life of these patients. Recommendations for orthopedic surgery may be based on a quantitative description of how to alter the properties probably muscle force generation, and how this affects the action of the muscle to determine how these muscles, impaired by disease or surgery, contributing to the movement of the segments of the limb during crouch gait. So the causes and appropriate treatment of gait abnormalities are difficult to determine because the movements generated by the muscular forces of these patients are not clearly understood. A correct determination of the etiology of abnormal patterns of the knee is the key to select the appropriate therapy, presenting a major challenge at present since there is no theoretical basis to determine the biomechanical causes of abnormal gait of these patients. The potential and necessity of using correct biomechanical models that consistently study the abnormalities becomes clear. Reinforcing and correcting a simple gait analysis and eliminating the unknowns when selecting the appropriate treatment is crucial in clinical settings. In this paper a computer muscle-skeletal model is proposed. The model represents a person's thigh simulating the six most representative muscles and joints of the hip and knee. In this way you can have a better understanding of gait abnormalities present in these patients. So the quality of these estimates of individual muscle dynamics facilitate better understanding of the biomechanics of gait pathologies helping to reach better diagnosis prior to surgery and rehabilitation treatments.
Atrial corrected Fourier amplitude ratios for the scintigraphic quantitation of valvar regurgitation
DOE Office of Scientific and Technical Information (OSTI.GOV)
Dae, M.W.; Botvinick, E.H.; O'Connell, J.W.
1984-01-01
Current scintigraphic methods commonly overestimate the degree of valvar regurgitation (VR), and displace normal ratios from unity, owing largely to RA contamination of the RV region of interest in the ''best septal'' LAO projection. The authors developed a method to correct for this overlap, using the Fourier amplitude (AMP) ratio. Amplitude is first ''weighted'' for phase angle using a vectorial sum, to improve assessment in patients (PTS) with contraction abnormalities. RV AMP is then corrected for underestimation by adding the product of mean LAO RA AMP times the difference between RA areas in anterior and LAO projections to the calculatedmore » RV AMP. In 15 PTS with aortic or mitral VR, corrected AMP ratios (CAR) were compared to ratios assessed angiographically and in 12 PTS without VR were compared to uncorrected AMP ratios (UAR), and to stroke volume ratios (SVR) from SV images (SVI), and ED and ES counts data (CT). CAR interobserver agreement was high (R=.97). When VR PTS ranked by CAR as mild (1.3-1.8), moderate (1.9-2.5), or severe (>2.5) were compared to similar chatheterization based ranks, there were no significant differences using the Mann Whitney test for ordinal data. CAR is a simple, objective and reproducible method of quantitating VR. It reduces the error in those without VR, allows sensitive identification of mild VR, and maintains accurate assessment of severe VR.« less
Bhattacharya, Deepta; Bryder, David; Rossi, Derrick J.; Weissman, Irving L.
2015-01-01
The replacement of abnormal hematopoietic stem cells (HSCs) with normal transplanted HSCs can correct a wide range of hematologic disorders. Here, we provide evidence that transplantation of more differentiated progenitor cells can be used to more rapidly correct lymphoid deficiencies in unconditioned immunocompromised mice. Transplantation of flk2+ multipotent progenitors led to robust B and T cell reconstitution that was maintained for at least 16 weeks. Antigenic challenge at 16 weeks post-transplantation revealed that reconstituted lymphocytes maintained a functional repertoire. In contrast to the persistent lymphocytic engraftment, myeloid chimerism was lost by 12 weeks post-transplantation consistent with the fact that flk2+ progenitors are non-self-renewing. Thus, while more differentiated progenitors are capable of rescuing lymphoid deficiencies, transplantation of HSCs must be used for the correction of non-lymphoid disorders, and, we propose, very long-term immune reconstitution. Based on recent evidence, we discuss novel strategies to achieve the replacement of abnormal HSCs without the use of cytotoxic conditioning regimens. PMID:16760650
Kraft, Kate H.; Shukla, Aseem R.; Canning, Douglas A.
2011-01-01
Hypospadias results from abnormal development of the penis that leaves the urethral meatus proximal to its normal glanular position. Meatal position may be located anywhere along the penile shaft, but more severe forms of hypospadias may have a urethral meatus located at the scrotum or perineum. The spectrum of abnormalities may also include ventral curvature of the penis, a dorsally redundant prepuce, and atrophic corpus spongiosum. Due to the severity of these abnormalities, proximal hypospadias often requires more extensive reconstruction in order to achieve an anatomically and functionally successful result. We review the spectrum of proximal hypospadias etiology, presentation, correction, and possible associated complications. PMID:21516286
Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J
2009-01-01
Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.
Terashita, Yukari; Yamagata, Kazuo; Tokoro, Mikiko; Itoi, Fumiaki; Wakayama, Sayaka; Li, Chong; Sato, Eimei; Tanemura, Kentaro; Wakayama, Teruhiko
2013-01-01
Somatic cell nuclear transfer to an enucleated oocyte is used for reprogramming somatic cells with the aim of achieving totipotency, but most cloned embryos die in the uterus after transfer. While modifying epigenetic states of cloned embryos can improve their development, the production rate of cloned embryos can also be enhanced by changing other factors. It has already been shown that abnormal chromosome segregation (ACS) is a major cause of the developmental failure of cloned embryos and that Latrunculin A (LatA), an actin polymerization inhibitor, improves F-actin formation and birth rate of cloned embryos. Since F-actin is important for chromosome congression in embryos, here we examined the relation between ACS and F-actin in cloned embryos. Using LatA treatment, the occurrence of ACS decreased significantly whereas cloned embryo-specific epigenetic abnormalities such as dimethylation of histone H3 at lysine 9 (H3K9me2) could not be corrected. In contrast, when H3K9me2 was normalized using the G9a histone methyltransferase inhibitor BIX-01294, the Magea2 gene—essential for normal development but never before expressed in cloned embryos—was expressed. However, this did not increase the cloning success rate. Thus, non-epigenetic factors also play an important role in determining the efficiency of mouse cloning. PMID:24205216
1983-09-01
uncovering unsuspected organ system malfunctions. In animals with subclinical or undiagnosed abnormalities, the emphasis is placed on the correct...normochromic, normocytic anemia are suggestive of hypothyroidism , although they do not occur in all hypothyroid animals. The thyroid hormones, thyroxine (T4...evaluation increased the opportunity to detect subclinical abnormalities and follow their pathophysiological course. Open-field assessment was conducted
2007-01-01
including scoliosis and pseudoarthrosis, which are compounded by osteoporosis and poor bone healing. Corrective orthopaedic intervention often fails...3 - Introduction: A large proportion of patients with Neurofibromatosis Type 1 display skeletal abnormalities including scoliosis and...abnormalities including alterations in bone size and shape, the presence of scoliosis , and a tendency to develop pseudoarthrosis. These skeletal
Correction of anterior crossbite using modified transparent aligners: An esthetic approach
Abraham, K. Korath; James, Arun Roy; Thenumkal, Elza; Emmatty, Tharian
2016-01-01
Anterior crossbite results from the abnormal axial inclination of one or more anterior teeth. It is a major esthetic and functional anomaly which has to be corrected in the primary and early mixed dentition period to allow the normal development of maxilla and mandible as well as the occlusion. Several treatment options are available to correct the problem. A unique appliance, “modified transparent tray aligners” was used to correct the anterior crossbite in an 8-year-old child. The clinical presentation, fabrication of the appliance, and the outcome are discussed. PMID:27630508
Longitudinal assessment of spirometry in the World Trade Center medical monitoring program.
Skloot, Gwen S; Schechter, Clyde B; Herbert, Robin; Moline, Jacqueline M; Levin, Stephen M; Crowley, Laura E; Luft, Benjamin J; Udasin, Iris G; Enright, Paul L
2009-02-01
Multiple studies have demonstrated an initial high prevalence of spirometric abnormalities following World Trade Center (WTC) disaster exposure. We assessed prevalence of spirometric abnormalities and changes in spirometry between baseline and first follow-up evaluation in participants in the WTC Worker and Volunteer Medical Monitoring Program. We also determined the predictors of spirometric change between the two examinations. Prebronchodilator and postbronchodilator spirometry, demographics, occupational history, smoking status, and respiratory symptoms and exposure onset were obtained at both examinations (about 3 years apart). At the second examination, 24.1% of individuals had abnormal spirometry findings. The predominant defect was a low FVC without obstruction (16.1%). Between examinations, the majority of individuals did not have a greater-than-expected decline in lung function. The mean declines in prebronchodilator FEV(1) and FVC were 13 mL/yr and 2 mL/yr, respectively (postbronchodilator results were similar and not reported). Significant predictors of greater average decline between examinations were lack of bronchodilator responsiveness at examination 1 and weight gain [corrected]. Elevated rates of spirometric abnormalities were present at both examinations, with reduced FVC most common. Although the majority had a normal decline in lung function, lack of bronchodilator response at examination 1 and weight gain were significantly associated with greater-than-normal lung function declines [corrected]. Due to the presence of spirometric abnormalities > 5 years after the disaster in many exposed individuals, longer-term monitoring of WTC responders is essential.
Momota, Yukihiro; Takano, Hideyuki; Kani, Koichi; Matsumoto, Fumihiro; Motegi, Katsumi; Aota, Keiko; Yamamura, Yoshiko; Omori, Mayuko; Tomioka, Shigemasa; Azuma, Masayuki
2013-03-01
Burning mouth syndrome (BMS) is characterized by the following subjective complaints without distinct organic changes: burning sensation in mouth or chronic pain of tongue. BMS is also known as glossodynia; both terms are used equivalently in Japan. Although the real cause of BMS is still unknown, it has been pointed out that BMS is related to some autonomic abnormality, and that stellate ganglion near-infrared irradiation (SGR) corrects the autonomic abnormality. Frequency analysis of heart rate variability (HRV) is expected to be useful for assessing autonomic abnormality. This study investigated whether frequency analysis of HRV could reveal autonomic abnormality associated with BMS, and whether autonomic changes were corrected after SGR. Eight subjects received SGR; the response to SGR was assessed by frequency analysis of HRV. No significant difference of autonomic activity concerning low-frequency (LF) norm, high-frequency (HF) norm, and low-frequency/high-frequency (LF/HF) was found between SGR effective and ineffective groups. Therefore, we proposed new parameters: differential normalized low frequency (D LF norm), differential normalized high frequency (D HF norm), and differential low-frequency/high-frequency (D LF/HF), which were defined as differentials between original parameters just before and after SGR. These parameters as indexes of responsiveness of autonomic nervous system (ANS) revealed autonomic changes in BMS, and BMS seems to be related to autonomic instability rather than autonomic imbalance. Frequency analysis of HRV revealed the autonomic instability associated with BMS and enabled tracing of autonomic changes corrected with SGR. It is suggested that frequency analysis of HRV is very useful in follow up of BMS and for determination of the therapeutic efficacy of SGR. Wiley Periodicals, Inc.
Kong, Lingtao; Chen, Kaiyuan; Womer, Fay; Jiang, Wenyan; Luo, Xingguang; Driesen, Naomi; Liu, Jie; Blumberg, Hilary; Tang, Yanqing; Xu, Ke; Wang, Fei
2013-06-01
Sex differences are observed in both epidemiological and clinical aspects of major depressive disorder (MDD). The cortico-limbic-striatal neural system, including the prefrontal cortex, amygdala, hippocampus, and striatum, have shown sexually dimorphic morphological features and have been implicated in the dysfunctional regulation of mood and emotion in MDD. In this study, we utilized a whole-brain, voxel-based approach to examine sex differences in the regional distribution of gray matter (GM) morphological abnormalities in medication-naïve participants with MDD. Participants included 29 medication-naïve individuals with MDD (16 females and 13 males) and 33 healthy controls (HC) (17 females and 16 males). Gray matter morphology of the cortico-limbic-striatal neural system was examined using voxel-based morphometry analyzes of high-resolution structural magnetic resonance imaging scans. The main effect of diagnosis and interaction effect of diagnosis by sex on GM morphology were statistically significant (p < 0.05, corrected) in the left ventral prefrontal cortex, right amygdala, right hippocampus and bilateral caudate when comparing the MDD and HC groups. Posthoc analyzes showed that females with MDD had significant GM decreases in limbic regions (p < 0.05, corrected), compared to female HC; while males with MDD demonstrated significant GM reduction in striatal regions, (p < 0.05, corrected), compared to HC males. The observed sex-related patterns of abnormalities within the cortico-limbic-strial neural system, such as predominant prefrontal-limbic abnormalities in MDD females vs. predominant prefrontal-striatal abnormalities in MDD males, suggest differences in neural circuitry that may mediate sex differences in the clinical presentation of MDD and potential targets for sex-differentiated treatment of the disorder. Copyright © 2013 Elsevier Ltd. All rights reserved.
Ozcan, H Nursun; Gormez, Ayşegul; Ozsurekci, Yasemin; Karakaya, Jale; Oguz, Berna; Unal, Sule; Cetin, Mualla; Ceyhan, Mehmet; Haliloglu, Mithat
2017-02-01
Computed tomography (CT) is commonly used to detect pulmonary infection in immunocompromised children. To compare MRI and multidetector CT findings of pulmonary abnormalities in immunocompromised children. Seventeen neutropaenic children (6 girls; ages 2-18 years) were included. Non-contrast-enhanced CT was performed with a 64-detector CT scanner. Axial and coronal non-enhanced thoracic MRI was performed using a 1.5-T scanner within 24 h of the CT examination (true fast imaging with steady-state free precession, fat-saturated T2-weighted turbo spin echo with motion correction, T2-weighted half-Fourier single-shot turbo spin echo [HASTE], fat-saturated T1-weighted spoiled gradient echo). Pulmonary abnormalities (nodules, consolidations, ground glass opacities, atelectasis, pleural effusion and lymph nodes) were evaluated and compared among MRI sequences and between MRI and CT. The relationship between MRI sequences and nodule sizes was examined by chi- square test. Of 256 CT lesions, 207 (81%, 95% confidence interval [CI] 76-85%) were detected at MRI. Of 202 CT-detected nodules, 157 (78%, 95% CI 71-83%) were seen at motion-corrected MRI. Of the 1-5-mm nodules, 69% were detected by motion-corrected T2-weighted MRI and 38% by HASTE MRI. Sensitivity of MRI (both axial fat-saturated T2-weighted turbo spin echo with variable phase encoding directions (BLADE) images and HASTE sequences) to detect pulmonary abnormalities is promising.
... and tendons and abnormal curvature of the spine ( scoliosis ). Bracing may be needed. Surgery may be needed to correct skeletal deformities, such as scoliosis. Outlook (Prognosis) Children with SMA type I rarely ...
Oh, J-Y; Sung, Y-A; Lee, H J
2013-04-01
The lipid accumulation product, a combination of waist circumference and triglycerides concentration, has been suggested as a better marker for abnormal glucose regulation than BMI. We aimed to compare the lipid accumulation product and BMI as useful markers for abnormal glucose regulation in young Korean women. The lipid accumulation product was calculated using the formula [waist circumference (cm) - 58] × triglycerides (mmol/l). Glucose tolerance status was determined using a 75-g oral glucose tolerance test in 2810 Korean women aged 18-39 years from the general population. The prevalence of abnormal glucose regulation was 6.8% (isolated impaired fasting glucose 1.8%, isolated impaired glucose tolerance 4.0%; impaired fasting glucose + impaired glucose tolerance 0.4% and diabetes mellitus 0.6%). According to the quintile distributions of the lipid accumulation product and BMI, women with a lipid accumulation product quintile greater than their BMI quintile exhibited significantly greater areas under the curve and higher levels of 2-h post-load glucose, insulin, homeostasis model analysis of insulin resistance and lipid profiles than did women with a BMI quintile greater than their lipid accumulation product quintile. Multiple logistic regression revealed that the lipid accumulation product exhibited a higher odds ratio for abnormal glucose regulation than did BMI after adjusting for age, systolic blood pressure, HDL cholesterol, previous history of gestational diabetes and family history of diabetes (odds ratios 3.5 and 2.6 of the highest vs. the lowest quintiles of lipid accumulation product and BMI, respectively). The lipid accumulation product could be useful for identifying the young Korean women with abnormal glucose regulation. © 2012 The Authors. Diabetic Medicine © 2012 Diabetes UK.
Growth failure and nutrition considerations in chronic childhood wasting diseases.
Kyle, Ursula G; Shekerdemian, Lara S; Coss-Bu, Jorge A
2015-04-01
Growth failure is a common problem in many children with chronic diseases. This article is an overview of the most common causes of growth failure/growth retardation that affect children with a number of chronic diseases. We also briefly review the nutrition considerations and treatment goals. Growth failure is multifactorial in children with chronic conditions, including patients with cystic fibrosis, chronic kidney disease, chronic liver disease, congenital heart disease, human immunodeficiency virus, inflammatory bowel disease, short bowel syndrome, and muscular dystrophies. Important contributory factors to growth failure include increased energy needs, increased energy loss, malabsorption, decreased energy intake, anorexia, pain, vomiting, intestinal obstruction, and inflammatory cytokines. Various metabolic and pathologic abnormalities that are characteristic of chronic diseases further lead to significant malnutrition and growth failure. In addition to treating disease-specific abnormalities, treatment should address the energy and protein deficits, including vitamin and mineral supplements to correct deficiencies, correct metabolic and endocrinologic abnormalities, and include long-term monitoring of weight and growth. Individualized, age-appropriate nutrition intervention will minimize the malnutrition and growth failure seen in children with chronic diseases. © 2014 American Society for Parenteral and Enteral Nutrition.
da Silva, O; Alexandrou, D; Knoppert, D; Young, G B
1999-03-01
To describe the association between opioid administration in the newborn period and neurologic abnormalities. Case reports of two infants who presented with seizure activity and abnormal electroencephalograms associated with opiate administration, and reversed by naloxone. The first was a preterm infant who developed a burst-suppression pattern on the electroencephalogram while receiving a continuous infusion of morphine and muscle paralysis. Naloxone injection during the electroencephalogram recording reversed the burst-suppression pattern. The second was a term infant receiving fentanyl infusion for pain control following surgery, who presented with motor seizure that was only partially controlled with barbiturates. An abnormal electroencephalogram recording during the opiate infusion improved with naloxone administration. Our observations indicate a potential for neurologic abnormalities, including induction of seizure activity and electroencephalogram abnormalities, suggesting caution when opiates are used for sedation and/or pain control in the newborn period.
[A follow-up on first-year growth and development of 61 very low birth weight preterm infants].
Deng, Ying; Xiong, Fei; Wu, Meng-Meng; Yang, Fan
2016-06-01
To investigate the physical growth and psychomotor development of very low birth weight (VLBW) preterm infants in the first year after birth and related influencing factors. A total of 61 VLBW preterm infants received growth and development monitoring for 12 months. Z score was used to evaluate parameters for physical growth, and Denver Development Screen Test (DDST) was used for development screening. Among the 61 VLBW preterm infants, 27 (44.3%) were small-for-gestational-age (SGA) infants, and 34 (55.7%) were appropriate-for-gestational-age (AGA) infants. During the 1-year follow-up, the median weight-for-age Z-score (WAZ), height-for-age Z-score (HAZ), head circumference-for-age Z-score (HCZ), and weight-for-height Z score (WHZ) were >-1 SD in all age groups. The peaks of body mass index-for-age Z-score (BAZ) and WHZ appeared at 1 month of corrected age. At a corrected age of 40 weeks, the incidence rates of underweight, growth retardation, emaciation, microcephalus, overweight, and obesity were 15%, 16%, 11%, 13%, 20%, and 10%, respectively. Compared with those with a corrected age of 40 weeks, the infants with a corrected age of 6 months or 9-12 months had a significantly reduced incidence rate of overweight (3%) (P<0.05). Up to 1 year after birth, 15 infants (25%) had abnormal developmental quotient (DQ). The SGA group had a significantly higher incidence rate of abnormal DQ than the AGA group (P<0.05). SGA was the independent risk factor for retarded growth in the first year after birth in VLBW preterm infants. VLBW preterm infants experience an obvious growth deviation within 3 months of corrected age. Within the first year after birth, the proportion of infants with abnormal DQ screened by DDST is high.
Shoulder Impingement Treatment
... imbalance in the rotator cuff or scapular muscles, postural abnormalities, shoulder joint instability, or improper training or ... and corrected. Phase Goals Methods Comments I Pain control Limit overhead activity or anything that causes pain. ...
... include: Abnormal development of bones, including the spine Bell-shaped chest with ribs flared out at the ... may slip and damage the spinal cord, causing paralysis. Surgery to correct such problems should be done ...
Neuropathological aspects of conservative treatment of scoliosis. A theoretical view point.
Czupryna, Krzysztof; Nowotny-Czupryna, Olga; Nowotny, Janusz
2012-01-01
An upright body posture cannot be maintained passively for reasons including a high location of the centre of gravity (COG) and a small support area. Proper alignment of body parts is maintained automatically, tending towards a pattern encoded in the CNS. A particularly important role in posture regulation is played by the short muscles of the back, which respond to being stretched with a contraction. During the early phase of scoliosis, the CNS automatically corrects abnormalities, but over time habituation occurs and the CNS treats them as something normal. Any attempt to restore proper body alignment is treated as an error and CNS automatically restores this abnormal pattern. With a prolonged deviation in body part alignment, CNS treats it as a defect and runs compensatory mechanisms to restore the balance of the body as a whole. Balance is ensured by postural compensation, but this does not restore proper body part alignment. In the treatment of scoliosis, it is important both to slow down progression and to prevent the development of abnormal postural habits, which are part of a vicious circle even without progression. Secondary prevention is therefore needed in all patients. Passive observation limits the possibilities for prevention and contradicts the principle of early implementation of rehabilitation. Depending on the size of the angle of curvature, recommended treatments of scoliosis comprise observation, corset bracing, and surgery. Physiotherapy is often treated as an unconventional and ineffective treatment. Often, the biggest problem is transferring the resulting correction to automatic maintenance of a correct posture in the vertical position. The aim of this paper was to discuss the conservative treatment of scoliosis with regard to difficulties maintaining the correct alignment of the body parts in the vertical position that accompany scoliosis.
ERIC Educational Resources Information Center
Shih, Ching-Hsiang; Shih, Chia-Ju; Shih, Ching-Tien
2011-01-01
The latest researches have adopted software technology by applying the Nintendo Wii Remote Controller to the correction of hyperactive limb behavior. This study extended Wii Remote Controller functionality for improper head position (posture) correction (i.e. actively adjusting abnormal head posture) to assess whether two people with multiple…
Anatomical substrates of cognitive and clinical dimensions in first episode schizophrenia.
Rigucci, S; Rossi-Espagnet, C; Ferracuti, S; De Carolis, A; Corigliano, V; Carducci, F; Mancinelli, I; Cicone, F; Tatarelli, R; Bozzao, A; Girardi, P; Comparelli, A
2013-10-01
To explore gray (GM) and white matter (WM) abnormalities and the relationships with neuropsychopathology in first-episode schizophrenia (FES). Nineteen patients with first episode of non-affective psychosis and 18 controls underwent a magnetic resonance voxel-based morphometry. Additionally, WM fractional anisotropy (FA) was calculated. For correlative analysis, symptoms and neuropsychological performances were scored by PANSS and by a comprehensive neuropsychological assessment respectively. Patients showed significantly decreased volume of left temporal lobe and disarray of all major WM tracts. Disorganized PANSS factor was inversely related to left cerebellar GM volume (corrected P = 0.03) and to WM FA of the left cerebellum, inferior fronto-occipital fasciculi (IFOF), and inferior longitudinal fasciculi (corrected P < 0.05). PANSS negative factor was inversely related to FA in the IFOF and superior longitudinal fasciculi (corrected P < 0.05). Impairment in facial emotion identification showed associations with temporo-occipital GM volume decrease (corrected P = 0.003) and WM disarray of superior and middle temporal gyri, anterior thalamic radiation, and superior longitudinal fasciculi (corrected P < 0.05). Speed of processing and visual memory correlated with WM abnormalities in fronto-temporal tracts. These results confirm how the structural development of key brain regions is related to neuropsychopathological dysfunction in FES, consistently with a neurodevelopmentally derived misconnection syndrome. © 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
The influence of parity and gravidity on first trimester markers of chromosomal abnormality.
Spencer, K; Ong, C Y; Liao, A W; Nicolaides, K H
2000-10-01
We have studied changes in first trimester fetal nuchal translucency (NT) and maternal serum free beta-hCG and PAPP-A with gravidity and parity in 3252 singleton pregnancies unaffected by chromosomal abnormality or major pregnancy complications. We have shown that gravidity and parity is associated with a small but progressive decrease in fetal NT and a small but progressive increase in free beta-hCG and PAPP-A. None of these small changes with increasing gravidity or parity are statistically significant and hence correction for these variables is not necessary when considering first trimester screening for chromosomal abnormalities. Copyright 2000 John Wiley & Sons, Ltd.
The Institutional Tour: Some Reflections.
ERIC Educational Resources Information Center
LeUnes, Arnold
1984-01-01
A rationale for using field trips to correctional institutions in an abnormal psychology class is presented. Also discussed are reasons why, over the years, student interest in these field trips has declined. (RM)
Khan, Sheraz; Michmizos, Konstantinos; Tommerdahl, Mark; Ganesan, Santosh; Kitzbichler, Manfred G.; Zetino, Manuel; Garel, Keri-Lee A.; Herbert, Martha R.; Hämäläinen, Matti S.
2015-01-01
Functional connectivity is abnormal in autism, but the nature of these abnormalities remains elusive. Different studies, mostly using functional magnetic resonance imaging, have found increased, decreased, or even mixed pattern functional connectivity abnormalities in autism, but no unifying framework has emerged to date. We measured functional connectivity in individuals with autism and in controls using magnetoencephalography, which allowed us to resolve both the directionality (feedforward versus feedback) and spatial scale (local or long-range) of functional connectivity. Specifically, we measured the cortical response and functional connectivity during a passive 25-Hz vibrotactile stimulation in the somatosensory cortex of 20 typically developing individuals and 15 individuals with autism, all males and right-handed, aged 8–18, and the mu-rhythm during resting state in a subset of these participants (12 per group, same age range). Two major significant group differences emerged in the response to the vibrotactile stimulus. First, the 50-Hz phase locking component of the cortical response, generated locally in the primary (S1) and secondary (S2) somatosensory cortex, was reduced in the autism group (P < 0.003, corrected). Second, feedforward functional connectivity between S1 and S2 was increased in the autism group (P < 0.004, corrected). During resting state, there was no group difference in the mu-α rhythm. In contrast, the mu-β rhythm, which has been associated with feedback connectivity, was significantly reduced in the autism group (P < 0.04, corrected). Furthermore, the strength of the mu-β was correlated to the relative strength of 50 Hz component of the response to the vibrotactile stimulus (r = 0.78, P < 0.00005), indicating a shared aetiology for these seemingly unrelated abnormalities. These magnetoencephalography-derived measures were correlated with two different behavioural sensory processing scores (P < 0.01 and P < 0.02 for the autism group, P < 0.01 and P < 0.0001 for the typical group), with autism severity (P < 0.03), and with diagnosis (89% accuracy). A biophysically realistic computational model using data driven feedforward and feedback parameters replicated the magnetoencephalography data faithfully. The direct observation of both abnormally increased and abnormally decreased functional connectivity in autism occurring simultaneously in different functional connectivity streams, offers a potential unifying framework for the unexplained discrepancies in current findings. Given that cortical feedback, whether local or long-range, is intrinsically non-linear, while cortical feedforward is generally linear relative to the stimulus, the present results suggest decreased non-linearity alongside an increased veridical component of the cortical response in autism. PMID:25765326
Associated phoria and the measuring and correcting methodology after H.-J. Haase (MKH).
Brautaset, R L; Jennings, J A
2001-09-01
The test charts included in the Polatest, designed by H.-J. Haase and manufactured by Zeiss, are used in Germany, Switzerland and Scandinavia for prism correction of 'associated phoria.' From clinical experience with the Polatest Haase developed a motor and sensory theory of the different stages of decompensation of 'associated phoria ' and a strategy for its prismatic correction - the MKH (Measuring and Correcting Methodology after H.-J. Haase). The theory challenges many accepted ideas about the plasticity of the visual system and the use of prisms in the treatment of sensory abnormalities. This article, the first full description in English, describes and critically discusses the MKH.
Velickaite, V; Ferreira, D; Cavallin, L; Lind, L; Ahlström, H; Kilander, L; Westman, E; Larsson, E-M
2018-04-01
To find cut-off values for different medial temporal lobe atrophy (MTA) measures (right, left, average, and highest), accounting for gender and education, investigate the association with cognitive performance, and to compare with decline of cognitive function over 5 years in a large population-based cohort. Three hundred and ninety 75-year-old individuals were examined with magnetic resonance imaging of the brain and cognitive testing. The Scheltens's scale was used to assess visually MTA scores (0-4) in all subjects. Cognitive tests were repeated in 278 of them after 5 years. Normal MTA cut-off values were calculated based on the 10th percentile. Most 75-year-old individuals had MTA score ≤2. Men had significantly higher MTA scores than women. Scores for left and average MTA were significantly higher in highly educated individuals. Abnormal MTA was associated with worse results in cognitive test and individuals with abnormal right MTA had faster cognitive decline. At age 75, gender and education are confounders for MTA grading. A score of ≥2 is abnormal for low-educated women and a score of ≥2.5 is abnormal for men and high-educated women. Subjects with abnormal right MTA, but normal MMSE scores had developed worse MMSE scores 5 years later. • Gender and education are confounders for MTA grading. • We suggest cut-off values for 75-year-olds, taking gender and education into account. • Males have higher MTA scores than women. • Higher MTA scores are associated with worse cognitive performance.
Moini, Ashraf; Kiani, Kiandokht; Ghaffari, Firouzeh; Hosseini, Fatemeh
2012-01-01
Background This study was designed to evaluate the incidence of uterine pathologies in infertile women with a history of two implantation failures after in vitro fertilization (IVF) and estimate the effect of hysteroscopic correction on achieving a pregnancy in these patients. Materials and Methods The retrospective study population included 238 infertile women attended the outpatient infertility clinic between November 2007 and December 2008. Patients with at least two previous IVF failures were eligible for this study. All patients had normal findings on hysterosalpingography performed prior their first attempt for IVF. Standard transvaginal ultrasonography and diagnostic hysteroscopy were performed in patients before the subsequent IVF attempt. Results Out of 238 patients with previous IVF failure who underwent hysteroscopic evaluation, 158 patients (66.4%) showed normal uterine cavity. Abnormal cavity was found in 80 patients (33.6%). We found polyp as the most common abnormality (19.7%) in the patients with previous history of IVF failure. The pregnancy rate was similar between IVF failure patients who treated by hysteroscopy for a detected uterine abnormality (24.6%) and similar patients with normal uterine cavity (21.2%) in hysteroscopic examinations. Conclusion The intrauterine lesions diagnosed by hysteroscopy in patients with previous IVF failure ranges from 0.8%-19.7%. Correction of abnormalities such as myoma and polyp showed good outcome, similar to that achieved in patients with a normal hysteroscopy. PMID:25505508
Jaeger, Jason O.; Oakley, Paul A.; Moore, Robert R.; Ruggeroli, Edward P.; Harrison, Deed E.
2018-01-01
[Purpose] To present the case of the resolution of right temporomandibular joint dysfunction (TMJD) following the correction of a right lateral head translation posture. [Subject and Methods] A 24 year old female reported facial pain and jaw clicking in the right TMJ. Radiography revealed a 19 mm right head (shift) translation posture. TMJ vibration analysis showed characteristic abnormalities for the right TMJ. The patient was treated with CBP® technique mirror image® left sided exercises, and traction methods as well as spinal manipulative therapy (SMT). [Results] After 36 treatments over a 12-week time period, a complete correction of the lateral head posture was achieved corresponding with a complete resolution of jaw pain and clicking. TMJ vibration analysis demonstrated normal right side TMJ characteristics following treatment. [Conclusion] Abnormal head/neck postures, such as lateral head translation, may be an unrealized source of TMJD and may be explained through the ‘regional interdependence’ model or by how seemingly unrelated anatomy may be associated with a primary complaint. PMID:29410576
Jaeger, Jason O; Oakley, Paul A; Moore, Robert R; Ruggeroli, Edward P; Harrison, Deed E
2018-01-01
[Purpose] To present the case of the resolution of right temporomandibular joint dysfunction (TMJD) following the correction of a right lateral head translation posture. [Subject and Methods] A 24 year old female reported facial pain and jaw clicking in the right TMJ. Radiography revealed a 19 mm right head (shift) translation posture. TMJ vibration analysis showed characteristic abnormalities for the right TMJ. The patient was treated with CBP ® technique mirror image ® left sided exercises, and traction methods as well as spinal manipulative therapy (SMT). [Results] After 36 treatments over a 12-week time period, a complete correction of the lateral head posture was achieved corresponding with a complete resolution of jaw pain and clicking. TMJ vibration analysis demonstrated normal right side TMJ characteristics following treatment. [Conclusion] Abnormal head/neck postures, such as lateral head translation, may be an unrealized source of TMJD and may be explained through the 'regional interdependence' model or by how seemingly unrelated anatomy may be associated with a primary complaint.
Code of Federal Regulations, 2010 CFR
2010-07-01
... education, basis skills instruction, and abnormal psychology; (5) Guidance and counseling programs; (6... programs with educational institutions, community-based organizations of demonstrated effectiveness, and...
Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line.
Cavard, C; Grimber, G; Dubois, N; Chasse, J F; Bennoun, M; Minet-Thuriaux, M; Kamoun, P; Briand, P
1988-01-01
The sparse fur with abnormal skin and hair (Spf-ash) mouse is a model for the human X-linked hereditary disorder, ornithine transcarbamylase (OTC) deficiency. In Spf-ash mice, both OTC mRNA and enzyme activity are 5% of control values resulting in hyperammonemia, pronounced orotic aciduria and an abnormal phenotype characterized by growth retardation and sparse fur. Using microinjection, we introduced a construction containing rat OTC cDNA linked to the SV40 early promoter into fertilized eggs of Spf-ash mice. The expression of the transgene resulted in the development of a transgenic mouse whose phenotype and orotic acid excretion are fully normalized. Thus, the possibility of correcting hereditary enzymatic defect by gene transfer of heterologous cDNA coding for the normal enzyme has been demonstrated. Images PMID:3162766
NASA Astrophysics Data System (ADS)
King, Jill L.; Gur, David; Rockette, Howard E.; Curtin, Hugh D.; Obuchowski, Nancy A.; Thaete, F. Leland; Britton, Cynthia A.; Metz, Charles E.
1991-07-01
The relationship between subjective judgments of image quality for the performance of specific detection tasks and radiologists' confidence level in arriving at correct diagnoses was investigated in two studies in which 12 readers, using a total of three different display environments, interpreted a series of 300 PA chest images. The modalities used were conventional films, laser-printed films, and high-resolution CRT display of digitized images. For the detection of interstitial disease, nodules, and pneumothoraces, there was no statistically significant correlation (Spearman rho) between subjective ratings of quality and radiologists' confidence in detecting these abnormalities. However, in each study, for all modalities and all readers but one, a small but statistically significant correlation was found between the radiologists' ability to correctly and confidently rule out interstitial disease and their subjective ratings of image quality.
Peculiarity of methoxy group-substituted phenylhydrazones in Fischer indole synthesis
MURAKAMI, Yasuoki
2012-01-01
We found that the Fischer indole synthesis of ethyl pyruvate 2-methoxyphenylhydrazone (5) with HCl/EtOH gave an abnormal product, ethyl 6-chloroindole-2-carboxylate (7), as the main product, with a smaller amount of ethyl 7-methoxyindole-2-carboxylate (6) as the normal product. This abnormal reaction was the result of a cyclization on the side with the substituent (methoxy group) of a benzene ring on phenylhydrazone, which was not previously observed. In this initial investigation, we focused on 1) the application of the above-mentioned abnormal Fischer indole synthesis, 2) the details of this reaction of phenylhydrazone with other kinds of substituents, 3) the mechanism of the first step of the Fischer indole synthesis, 4) the abnormal reaction in methoxydiphenylhydrazones, and 5) a synthetic device to avoid an abnormal reaction. The results of these studies are summarized herein. PMID:22241067
Electrocardiogram interpretation in general practice: relevance to prehospital thrombolysis.
McCrea, W A; Saltissi, S
1993-01-01
OBJECTIVE--To assess, in the context of their possible role in prehospital thrombolysis, the ability of general practitioners to recognise acute transmural myocardial ischaemia/infarction on an electrocardiogram. DESIGN--150 doctors (every fifth name) were selected from the alphabetical list of 750 on Merseyside general practitioner register and without prior warning were asked to interpret a series of six 12 lead electrocardiograms. Three of these showed acute transmural ischaemia/infarction, one was normal, and two showed non-acute abnormalities. Details of doctors' ages, postgraduate training, and clinical practice were sought. SETTING--General practitioners' surgeries and postgraduate centres within the Merseyside area. PARTICIPANTS--106 general practitioners (mean age 45 years) agreed to participate. MAIN OUTCOME MEASURE--Accuracy of general practitioners' interpretations of the six electrocardiograms. RESULTS--82% of general practitioners correctly recognised a normal electrocardiogram. Recognition of acute abnormalities was less reliable. Between 33% and 61% correctly identified acute transmural ischaemia/infarction depending on the specific trace presented. Accurate localisation of the site of the infarct was achieved only by between 8% and 30% of participants, while between 22% and 25% correctly interpreted non-acute abnormalities. Neither routine use of electrocardiography nor postgraduate hospital experience in general medicine was associated with significantly greater expertise. CONCLUSION--The current level of proficiency of a sample of general practitioners in the Merseyside area in recognising acute transmural ischaemia/infarction on an electrocardiogram suggests that refresher training is needed if general practitioners are to give prehospital thrombolysis. Images PMID:8398491
Hamer, Elisa G; Bos, Arend F; Hadders-Algra, Mijna
2011-08-01
Abnormal general movements at around 3 months corrected age indicate a high risk of cerebral palsy (CP). We aimed to determine whether specific movement characteristics can improve the predictive power of definitely abnormal general movements. Video recordings of 46 infants with definitely abnormal general movements at 9 to 13 weeks corrected age (20 males; 26 females; median gestational age 30wks; median birthweight 1200g) were analysed for the following characteristics: presence of fidgety, cramped synchronized, stiff, or jerky movements and asymmetrical tonic neck reflex pattern. Neurological condition (presence or absence of CP), gross motor development (Alberta Infant Motor Scales), quality of motor behaviour (Infant Motor Profile), functional mobility (Pediatric Evaluation of Disability Inventory), and Mental Developmental Index (Bayley Scales) were assessed at 18 months corrected age. Infants were excluded from participating in the study if they had severe congenital anomalies or if their caregivers had an insufficient knowledge of the Dutch language. Of the 46 assessed infants, 10 developed spastic CP (Gross Motor Function Classification System levels I to V; eight bilateral spastic CP, two unilateral spastic CP). The absence of fidgety movements and the presence of predominantly stiff movements were associated with CP (Fisher's exact test, p=0.018 and p=0.007 respectively) and lower Infant Motor Profile scores (Mann-Whitney U test, p=0.015 and p=0.022 respectively); stiff and predominantly stiff movements were associated with lower Alberta Infant Motor Scales scores (Mann-Whitney U test, p=0.01 and p=0.004 respectively). Cramped synchronized movements and the asymmetrical tonic neck reflex pattern were not related to outcome. None of the movement characteristics were associated with Pediatric Evaluation of Disability Inventory scores or the Mental Developmental Index. The assessment of fidgety movements and movement stiffness may improve the predictive power of definitely abnormal general movements for developmental outcome. However, the presence of fidgety movements does not preclude the development of CP. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.
Dual Purkinje-Image Eyetracker
1996-01-01
Abnormal nystagmus can also be detected through the use of an eyetracker [4]. Through tracking points of eye gaze within a scene, it is possible to...moving, even when gazing . Correcting for these unpredictable micro eye movements would allow corrective procedures in eye surgery to become more accurate...victim with a screen of letters on a monitor. A calibrated eyetracker then provides a processor with information about the location of eye gaze . The
Various attitudes to the use of corrective exercises in conservative treatment of scoliosis.
Nowotny, Janusz; Nowotny-Czupryna, Olga; Czupryna, Krzysztof
2010-01-01
In acquired scoliosis, the degree of the curve is initially low and its type becomes apparent only after it has progressed. The characteristics of scoliosis include an abnormal spatial arrangement of individual body segments, which the central nervous system (CNS) interprets as a defect and automatically launches compensatory mechanisms. Neglecting low-degree scoliosis poses a two-fold danger. It usually leads to the development of structural changes, while the child gets used to the abnormal body arrangement, thus reinforcing the poor postural habits. The basic aim of early rehabilitation is to manage the compensatory mechanisms and prevent the development of adverse secondary changes, rehabilitation in scoliosis being no exception.Some cases of scoliosis require surgery. The point is to minimise the changes resulting from the progression of scoliosis. The role of corrective exercises seems to be significant here. However, views on the usefulness of such exercises are sometimes extremely varied, even though both favourable and sceptical opinions are not fully supported by the literature. However, a number of reports indicate that corrective exercises are useful.
The selection and of corrective exercises and how they should be performed are another question. A number of methods of conservative treatment of scoliosis have been devised. Currently, none of them is considered a comprehensive regimen since each patient requires an individual approach. The most difficult aspect is to ensure that local correction translates to the automatic maintenance of the corrected body posture in a standing position. This is facilitated by corrective exercises supported with biofeedback.
The aim of this paper is to elucidate this complex issue that often leads to divergent and improper attitudes to the conservative treatment of scoliosis.
Jeong, Kyeong-Hoon; Sakihara, Satoru; Widmaier, Eric P; Majzoub, Joseph A
2004-07-01
Leptin has been postulated to comprise part of an adipostat, whereby during states of excessive energy storage, elevated levels of the hormone prevent further weight gain by inhibiting appetite. A physiological role for leptin in this regard remains unclear because the presence of excessive food, and therefore the need to restrain overeating under natural conditions, is doubtful. We have previously shown that CRH-deficient (Crh(-/-)) mice have glucocorticoid insufficiency and lack the fasting-induced increase in glucocorticoid, a hormone important in stimulating leptin synthesis and secretion. We hypothesized that these mice might have low circulating leptin. Indeed, Crh(-/-) mice exhibited no diurnal variation of leptin, whereas normal littermates showed a clear rhythm, and their leptin levels were lower than their counterparts. A continuous peripheral CRH infusion to Crh(-/-) mice not only restored corticosterone levels, but it also increased leptin expression to normal. Surprisingly, 36 h of fasting elevated leptin levels in Crh(-/-) mice, rather than falling as in normal mice. This abnormal leptin change during fasting in Crh(-/-) mice was corrected by corticosterone replacement. Furthermore, Crh(-/-) mice lost less body weight during 24 h of fasting and ate less food during refeeding than normal littermates. Taken together, we conclude that glucocorticoid insufficiency in Crh(-/-) mice results in impaired leptin production as well as an abnormal increase in leptin during fasting, and propose that the fast-induced physiological reduction in leptin may play an important role to stimulate food intake during the recovery from fasting.
PHACE syndrome misdiagnosed as a port-wine stain
Thomson, Jason; Greig, Aina; Lloyd, Claire; Morrison, Danny; Flohr, Carsten
2015-01-01
We present the case of a boy born with a large macular, segmental vascular anomaly over the left face, initially diagnosed as a capillary malformation (port-wine stain) by the postnatal paediatric team. The vascular anomaly in the face then grew rapidly during the first few weeks of life and started to occlude the left eye, causing parental concerns about the infant's vision. A dermatological opinion established that the lesion was a segmental infantile haemangioma (IH). This, in combination with the posterior fossa malformation previously detected on antenatal scanning and confirmed by an MRI postnatally, satisfied the criteria for Posterior fossa abnormalities, Haemangiomas, Arterial abnormalities, Cardiac abnormalities and Eye abnormalities (PHACE) syndrome: a rare cutaneous neurovascular syndrome. This case highlights the diagnostic challenge posed by early phenotypes of haemangiomas as well as the importance of correctly diagnosing PHACE syndrome. PMID:26177999
Iwata, Hitoshi; Tsuzuki, Seiichiro; Iwata, Mitsunaga; Terasawa, Teruhiko
2017-01-01
Strict restriction of carbohydrates can induce symptomatic ketoacidosis. We herein report a 76-year-old demented woman who developed ketoacidosis after 1 month of abnormal eating behavior involving selectively eating hamburger steak (estimated carbohydrate =12.7 g/day). Laboratory tests showed high-anion-gap metabolic acidosis with elevated blood ketone levels. She was successfully treated with intravenous fluids followed by oral intake of a regular diet. She remained relapse-free after correcting her eating habits. Healthcare providers should know that abnormal eating behavior in demented people can lead to an extremely-low-carbohydrate diet and cause atypical ketoacidosis unexplained by diabetes, heavy alcohol intake, or starvation conditions. PMID:28883241
Iwata, Hitoshi; Tsuzuki, Seiichiro; Iwata, Mitsunaga; Terasawa, Teruhiko
2017-10-01
Strict restriction of carbohydrates can induce symptomatic ketoacidosis. We herein report a 76-year-old demented woman who developed ketoacidosis after 1 month of abnormal eating behavior involving selectively eating hamburger steak (estimated carbohydrate =12.7 g/day). Laboratory tests showed high-anion-gap metabolic acidosis with elevated blood ketone levels. She was successfully treated with intravenous fluids followed by oral intake of a regular diet. She remained relapse-free after correcting her eating habits. Healthcare providers should know that abnormal eating behavior in demented people can lead to an extremely-low-carbohydrate diet and cause atypical ketoacidosis unexplained by diabetes, heavy alcohol intake, or starvation conditions.
Patanè, Salvatore; Marte, Filippo
2010-01-21
Thalassemia is a congenital hemoglobinopathy leading to anemia because of impaired erythropoiesis and peripheral hemolysis. Thalassemia major patients are transfusion dependent and it results in iron accumulation. The heart is one of the major organs affected with iron overload and iron induced cardiac dysfunction (pump and conduction abnormalities) remains the number one cause of death among thalassemia major patients. It has been reported that a high ferritin concentration is related to high troponin levels in hemodialysis patients receiving more intravenous iron sucrose. Abnormal troponin I levels have also been reported without acute coronary syndrome. We present a case of abnormal troponin I levels in Thalassemia major patient with high ferritin concentration, permanent atrial fibrillation and without acute coronary syndrome. To our knowledge, this is the first report of abnormal troponin I levels in a Thalassemia major patient with high ferritin concentration and without acute coronary syndrome and also this case focuses attention on the importance of the correct evaluation of abnormal troponin I levels. Copyright (c) 2008 Elsevier Ireland Ltd. All rights reserved.
The agreement between self-reported cervical smear abnormalities and screening programme records.
Canfell, Karen; Beral, Valerie; Green, Jane; Cameron, Rebecca; Baker, Krys; Brown, Anna
2006-01-01
The Million Women Study is a cohort study of women aged 50-64 years in England and Scotland. As a component of the follow-up questionnaire, participants were asked to indicate if they had an abnormal cervical smear in the previous five years. This study compared self-reported cervical abnormalities with screening records obtained from the National Health Service Cervical Screening Programme. For 1944 randomly selected Million Women Study participants in Oxfordshire, screening records were assessed over a six-year period prior to the date of self-reporting. The six-year period was chosen to allow for errors in the recall of timing of abnormal smears. A total of 68 women (3.5%) had a record of at least one equivocal or abnormal smear within the last six years, whereas 49 women (2.5%) self-reported an abnormality. There was a strong trend for an increased probability of self-reporting a history of an abnormal smear as the severity of the recorded abnormality increased (P <0.001). For women with an NHS record of borderline dyskaryosis, mild dyskaryosis, or moderate dyskaryosis/severe dyskaryosis/invasive cancer, the proportions reporting an abnormality were 40%, 58% and 77%, respectively. For women with negative and inadequate smears, the proportion self-reporting an abnormality were 0.6% and 0.7%, respectively. These results indicate that among women whose screening programme records show an abnormal smear, the proportion self-reporting an abnormality increases with the severity of the recorded lesion. Almost all women with a record of negative or inadequate smear(s) correctly interpret the result and do not self-report an abnormality.
Clinical Correlation between Perverted Nystagmus and Brain MRI Abnormal Findings
Han, Won-Gue; Yoon, Hee-Chul; Kim, Tae-Min; Rah, Yoon Chan
2016-01-01
Background and Objectives To analyze the clinical correlation between perverted nystagmus and brain magnetic resonance imaging (MRI) abnormal findings and to evaluate whether perverted nystagmus is clinically significant results of brain abnormal lesions or not. Subjects and Methods We performed medical charts review from January 2008 to July 2014, retrospectively. Patients who were suspected central originated vertigo at Frenzel goggles test were included among patients who visited our hospital. To investigate the correlation with nystagmus suspected central originated vertigo and brain MRI abnormal findings, we confirmed whether performing brain MRI or not. Then we exclude that patients not performed brain MRI. Results The number of patients with perverted nystagmus was 15, upbeating was 1 and down-beating was 14. Among these patients, 5 patients have brain MRI abnormal findings. However, 2 patients with MRI abnormal findings were not associated correctly with perverted nystagmus and only 3 patients with perverted nystagmus were considered central originated vertigo and further evaluation and treatment was performed by the department of neurology. Conclusions Perverted nystagmus was considered to the abnormalities at brain lesions, especially cerebellum, but neurologic symptoms and further evaluation were needed for exact diagnosis of central originated vertigo. PMID:27626081
New animal models to study the role of tyrosinase in normal retinal development.
Lavado, Alfonso; Montoliu, Lluis
2006-01-01
Albino animals display a hypopigmented phenotype associated with several visual abnormalities, including rod photoreceptor cell deficits, abnormal patterns of connections between the eye and the brain and a general underdevelopment of central retina. Oculocutaneous albinism type I, a common form of albinism, is caused by mutations in the tyrosinase gene. In mice, the albino phenotype can be corrected by functional tyrosinase transgenes. Tyrosinase transgenic animals not only show normal pigmentation but the correction of all visual abnormalities associated with albinism, confirming a role of tyrosinase, a key enzyme in melanin biosynthesis, in normal retinal development. Here, we will discuss recent work carried out with new tyrosinase transgenic mouse models, to further analyse the role of tyrosinase in retinal development. We will first report a transgenic model with inducible tyrosinase expression that has been used to address the regulated activation of this gene and its associated effects on the development of the visual system. Second, we will comment on an interesting yeast artificial chromosome (YAC)-tyrosinase transgene, lacking important regulatory elements, that has highlighted the significance of local interactions between the retinal pigment epithelium (RPE) and developing neural retina.
Pryde, P G; Isada, N B; Hallak, M; Johnson, M P; Odgers, A E; Evans, M I
1992-07-01
This study evaluated factors influencing the decision to abort after abnormalities in the karyotypically normal fetus were found through ultrasonography. We reviewed all pregnancies complicated by ultrasound-detected abnormalities managed on our service from April 1990 through August 1991 (N = 262). Cases with associated karyotypic abnormalities were excluded (N = 35), as were cases diagnosed after the legal gestational age limit for abortion (N = 68). The remaining 159 cases were stratified into prognosis groups of "severe," "uncertain," and "mild." The prognostic severity of the ultrasound abnormality strongly correlated with the decision to abort (P less than .0001). Rates of termination were 0, 12, and 66% in the "mild," "uncertain," and "severe" groups, respectively. The patients' age, gravidity, and parity, and the fetal gestational age at diagnosis did not differ significantly between the groups. 1) In non-aneuploid pregnancies with an ultrasound diagnosis of fetal abnormality, the major predictor of the decision to abort was the severity of fetal prognosis. 2) The gestational age at diagnosis was not an important variable in the decision to abort for fetal structural abnormalities. 3) Parents who had fetuses with abnormalities associated with uncertain prognoses usually opted to continue the pregnancy. This appeared to be particularly true for defects that were potentially correctable in utero or by neonatal intervention (even if investigational).
A review of tropospheric refraction effects on Earth-to-satellite systems
NASA Technical Reports Server (NTRS)
Althsuler, E. E.
1983-01-01
Abnormal refractivity gradients may cause radio waves to be trapped within tropospheric layers, thus producing regions through which the waves do not pass called radio holes. For some locations and for many applications, refractive corrections based on the surface refractivity are adequate for elevation angles above a few degrees. However, new systems which operate at elevation angles near the horizon often require improved accuracies. Techniques for obtaining these improved corrections are reviewed.
Suh, Young Joo; Kim, Young Jin; Kim, Jin Young; Chang, Suyon; Im, Dong Jin; Hong, Yoo Jin; Choi, Byoung Wook
2017-11-01
We aimed to determine the effect of a whole-heart motion-correction algorithm (new-generation snapshot freeze, NG SSF) on the image quality of cardiac computed tomography (CT) images in patients with mechanical valve prostheses compared to standard images without motion correction and to compare the diagnostic accuracy of NG SSF and standard CT image sets for the detection of prosthetic valve abnormalities. A total of 20 patients with 32 mechanical valves who underwent wide-coverage detector cardiac CT with single-heartbeat acquisition were included. The CT image quality for subvalvular (below the prosthesis) and valvular regions (valve leaflets) of mechanical valves was assessed by two observers on a four-point scale (1 = poor, 2 = fair, 3 = good, and 4 = excellent). Paired t-tests or Wilcoxon signed rank tests were used to compare image quality scores and the number of diagnostic phases (image quality score≥3) between the standard image sets and NG SSF image sets. Diagnostic performance for detection of prosthetic valve abnormalities was compared between two image sets with the final diagnosis set by re-operation or clinical findings as the standard reference. NG SSF image sets had better image quality scores than standard image sets for both valvular and subvalvular regions (P < 0.05 for both). The number of phases that were of diagnostic image quality per patient was significantly greater in the NG SSF image set than standard image set for both valvular and subvalvular regions (P < 0.0001). Diagnostic performance of NG SSF image sets for the detection of prosthetic abnormalities (20 pannus and two paravalvular leaks) was greater than that of standard image sets (P < 0.05). Application of NG SSF can improve CT image quality and diagnostic accuracy in patients with mechanical valves compared to standard images. Copyright © 2017 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.
Kantor, Sandor; Varga, Janos; Morton, A Jennifer
2016-06-01
Sleep and electroencephalogram abnormalities are prominent early features of Huntington's disease (HD) that typically appear before the onset of characteristic motor symptoms. The changes in sleep and electroencephalogram seen in HD patients are largely recapitulated in mouse models of HD such as transgenic R6/2 lines. To test whether or not drugs with hypnotic properties can correct the sleep and electroencephalogram abnormalities seen in HD mice, we treated male wild-type (WT; N = 7) and R6/2 mice (N = 9) acutely with intraperitoneal injections of vehicle, zolpidem (5, 10 or 20 mg/kg) or amitriptyline (5, 10 or 20 mg/kg), and then monitored their sleep-wake behavior. In R6/2 mice, both zolpidem and amitriptyline suppressed the abnormally high REM sleep amount and electroencephalographic gamma (30-46 Hz) oscillations in a dose-dependent manner. Amitriptyline's effect on sleep was similar in both genotypes, whereas zolpidem showed significant genotype differences. Zolpidem exerted a strong hypnotic effect in WT mice by increasing electroencephalographic delta power, doubling the mean bout duration and the total amount of non-rapid eye movement sleep. However, no such effect was seen in R6/2 mice. Our study demonstrates that the pathophysiological changes seen in sleep and electroencephalogram are not 'hard-wired' in HD brain and can be reversed even at late stages of the disease. The diminished hypnotic effect of zolpidem suggests that the GABAergic control of sleep-wake states is impaired in HD mice. A better understanding of the neurochemical basis underlying these abnormalities should lead to more effective and rational therapies for HD. Copyright © 2016 Elsevier Ltd. All rights reserved.
Motor Development of Premature Infants Born between 32 and 34 Weeks
Prins, S. A.; von Lindern, J. S.; van Dijk, S.; Versteegh, F. G. A.
2010-01-01
Little is known about motor development in late preterm born infants. Our objective was to determine long-term outcome of motor skills of infants born between 32 and 34 weeks. All infants were assessed at corrected ages of 3 and 9 months, using the Alberta Infant Motor Scale. At corrected ages of 4 years, the Movement Assessment Battery for Children was done. Seventy infants were seen at 4 years of age (median of 3 assessments per infant). Abnormal assessment at 3 or 9 months of age resulted in normal outcome in almost 80% at 4 years. On the other hand, a normal outcome in the first year of life resulted in an abnormal outcome at 4 years in 10% of the infants. Our results suggest that long-term followup of these late preterm born infants is necessary, as the assessments in the first year do not predict the long-term outcome. PMID:20885965
Windsor, J S; Rodway, G W; Mukherjee, R; Firth, P G; Shattock, M; Montgomery, H E
2011-03-01
In the mountain environment sudden cardiac death (SCD) has been shown to be responsible for the deaths of up to 52% of downhill skiers and 30% of hikers. The majority of SCD's are precipitated by a ventricular arrhythmia. Although most are likely to result from structural abnormalities associated with conditions such as ischaemic heart disease, a small but significant number may be due to abnormalities in ion channel activity, commonly known as, "channelopathies". Channelopathies have the potential to lengthen the time between ventricular depolarisation and repolarisation that can result in prolongation of the corrected QT interval (QTc) and episodes of polymorphic ventricular tachycardia (PVT) and eventually, ventricular fibrillation. This review examines the factors that prolong the QTc interval in the mountain environment and outlines a practical framework for preventing the life threatening arrhythmias that are associated with this condition.
Wang, Bo; Bao, Jianwei; Wang, Shikui; Wang, Houjun; Sheng, Qinghong
2017-01-01
Remote sensing images could provide us with tremendous quantities of large-scale information. Noise artifacts (stripes), however, made the images inappropriate for vitalization and batch process. An effective restoration method would make images ready for further analysis. In this paper, a new method is proposed to correct the stripes and bad abnormal pixels in charge-coupled device (CCD) linear array images. The method involved a line tracing method, limiting the location of noise to a rectangular region, and corrected abnormal pixels with the Lagrange polynomial algorithm. The proposed detection and restoration method were applied to Gaofen-1 satellite (GF-1) images, and the performance of this method was evaluated by omission ratio and false detection ratio, which reached 0.6% and 0%, respectively. This method saved 55.9% of the time, compared with traditional method. PMID:28441754
Pourier, Milanthy S; Mavinkurve-Groothuis, Annelies M C; Loonen, Jacqueline; Bökkerink, Jos P M; Roeleveld, Nel; Beer, Gil; Bellersen, Louise; Kapusta, Livia
2017-03-01
ECG and echocardiography are noninvasive screening tools to detect subclinical cardiotoxicity in childhood cancer survivors (CCSs). Our aims were as follows: (1) assess the prevalence of abnormal ECG patterns, (2) determine the agreement between abnormal ECG patterns and echocardiographic abnormalities; and (3) determine whether ECG screening for subclinical cardiotoxicity in CCSs is justified. We retrospectively studied ECG and echocardiography in asymptomatic CCSs more than 5 years after anthracycline treatment. Exclusion criteria were abnormal ECG and/or echocardiogram at the start of therapy, incomplete follow-up data, clinical heart failure, cardiac medication, and congenital heart disease. ECG abnormalities were classified using the Minnesota Code. Level of agreement between ECG and echocardiography was calculated with Cohen kappa. We included 340 survivors with a mean follow-up of 14.5 years (range 5-32). ECG was abnormal in 73 survivors (21.5%), with ventricular conduction disorders, sinus bradycardia, and high-amplitude R waves being most common. Prolonged QTc (>0.45 msec) was found in two survivors, both with a cumulative anthracycline dose of 300 mg/m 2 or higher. Echocardiography showed abnormalities in 44 survivors (12.9%), mostly mild valvular abnormalities. The level of agreement between ECG and echocardiography was low (kappa 0.09). Male survivors more often had an abnormal ECG (corrected odds ratio: 3.00, 95% confidence interval: 1.68-5.37). Abnormal ECG patterns were present in 21% of asymptomatic long-term CCSs. Lack of agreement between abnormal ECG patterns and echocardiographic abnormalities may suggest that ECG is valuable in long-term follow-up of CCSs. However, it is not clear whether these abnormal ECG patterns will be clinically relevant. © 2016 Wiley Periodicals, Inc.
Sacchet, Matthew D; Ho, Tiffany C; Connolly, Colm G; Tymofiyeva, Olga; Lewinn, Kaja Z; Han, Laura Km; Blom, Eva H; Tapert, Susan F; Max, Jeffrey E; Frank, Guido Kw; Paulus, Martin P; Simmons, Alan N; Gotlib, Ian H; Yang, Tony T
2016-11-01
Major depressive disorder (MDD) often emerges during adolescence, a critical period of brain development. Recent resting-state fMRI studies of adults suggest that MDD is associated with abnormalities within and between resting-state networks (RSNs). Here we tested whether adolescent MDD is characterized by abnormalities in interactions among RSNs. Participants were 55 unmedicated adolescents diagnosed with MDD and 56 matched healthy controls. Functional connectivity was mapped using resting-state fMRI. We used the network-based statistic (NBS) to compare large-scale connectivity between groups and also compared the groups on graph metrics. We further assessed whether group differences identified using nodes defined from functionally defined RSNs were also evident when using anatomically defined nodes. In addition, we examined relations between network abnormalities and depression severity and duration. Finally, we compared intranetwork connectivity between groups and assessed the replication of previously reported MDD-related abnormalities in connectivity. The NBS indicated that, compared with controls, depressed adolescents exhibited reduced connectivity (p<0.024, corrected) between a specific set of RSNs, including components of the attention, central executive, salience, and default mode networks. The NBS did not identify group differences in network connectivity when using anatomically defined nodes. Longer duration of depression was significantly correlated with reduced connectivity in this set of network interactions (p=0.020, corrected), specifically with reduced connectivity between components of the dorsal attention network. The dorsal attention network was also characterized by reduced intranetwork connectivity in the MDD group. Finally, we replicated previously reported abnormal connectivity in individuals with MDD. In summary, adolescents with MDD show hypoconnectivity between large-scale brain networks compared with healthy controls. Given that connectivity among these networks typically increases during adolescent neurodevelopment, these results suggest that adolescent depression is associated with abnormalities in neural systems that are still developing during this critical period.
Sacchet, Matthew D; Ho, Tiffany C; Connolly, Colm G; Tymofiyeva, Olga; Lewinn, Kaja Z; Han, Laura KM; Blom, Eva H; Tapert, Susan F; Max, Jeffrey E; Frank, Guido KW; Paulus, Martin P; Simmons, Alan N; Gotlib, Ian H; Yang, Tony T
2016-01-01
Major depressive disorder (MDD) often emerges during adolescence, a critical period of brain development. Recent resting-state fMRI studies of adults suggest that MDD is associated with abnormalities within and between resting-state networks (RSNs). Here we tested whether adolescent MDD is characterized by abnormalities in interactions among RSNs. Participants were 55 unmedicated adolescents diagnosed with MDD and 56 matched healthy controls. Functional connectivity was mapped using resting-state fMRI. We used the network-based statistic (NBS) to compare large-scale connectivity between groups and also compared the groups on graph metrics. We further assessed whether group differences identified using nodes defined from functionally defined RSNs were also evident when using anatomically defined nodes. In addition, we examined relations between network abnormalities and depression severity and duration. Finally, we compared intranetwork connectivity between groups and assessed the replication of previously reported MDD-related abnormalities in connectivity. The NBS indicated that, compared with controls, depressed adolescents exhibited reduced connectivity (p<0.024, corrected) between a specific set of RSNs, including components of the attention, central executive, salience, and default mode networks. The NBS did not identify group differences in network connectivity when using anatomically defined nodes. Longer duration of depression was significantly correlated with reduced connectivity in this set of network interactions (p=0.020, corrected), specifically with reduced connectivity between components of the dorsal attention network. The dorsal attention network was also characterized by reduced intranetwork connectivity in the MDD group. Finally, we replicated previously reported abnormal connectivity in individuals with MDD. In summary, adolescents with MDD show hypoconnectivity between large-scale brain networks compared with healthy controls. Given that connectivity among these networks typically increases during adolescent neurodevelopment, these results suggest that adolescent depression is associated with abnormalities in neural systems that are still developing during this critical period. PMID:27238621
Meiotic behavior as a selection tool in silage corn breeding.
Souza, V F; Pagliarini, M S; Scapim, C A; Rodovalho, M; Faria, M V
2010-10-19
In breeding programs, commercial hybrids are frequently used as a source of inbred lines to obtain new hybrids. Considering that maize production is dependent on viable gametes, the selection of populations to obtain inbred lines with high meiotic stability could contribute to the formation of new silage corn hybrids adapted to specific region. We evaluated the meiotic stability of five commercial hybrids of silage corn used in southern Brazil with conventional squashing methods. All of them showed meiotic abnormalities. Some abnormalities, such as abnormal chromosome segregation and absence of cytokinesis, occurred in all the genotypes, while others, including cytomixis and abnormal spindle orientation, were found only in some genotypes. The hybrid SG6010 had the lowest mean frequency of abnormal cells (21.27%); the highest frequency was found in the hybrid P30K64 (44.43%). However, the frequency of abnormal meiotic products was much lower in most genotypes, ranging from 7.63% in the hybrid CD304 to 43.86% in Garra. Taking into account the percentage of abnormal meiotic products and, hence, meiotic stability, only the hybrids CD304, P30K64, SG6010, and P30F53 are recommended to be retained in the breeding program to obtain inbred lines to create new hybrids.
Marie, Pierre J
2015-04-01
Several metabolic, genetic and oncogenic bone diseases are characterized by defective or excessive bone formation. These abnormalities are caused by dysfunctions in the commitment, differentiation or survival of cells of the osteoblast lineage. During the recent years, significant advances have been made in our understanding of the cellular and molecular mechanisms underlying the osteoblast dysfunctions in osteoporosis, skeletal dysplasias and primary bone tumors. This led to suggest novel therapeutic approaches to correct these abnormalities such as the modulation of WNT signaling, the pharmacological modulation of proteasome-mediated protein degradation, the induction of osteoprogenitor cell differentiation, the repression of cancer cell proliferation and the manipulation of epigenetic mechanisms. This article reviews our current understanding of the major cellular and molecular mechanisms inducing osteoblastic cell abnormalities in age-related bone loss, genetic skeletal dysplasias and primary bone tumors, and discusses emerging therapeutic strategies to counteract the osteoblast abnormalities in these disorders of bone formation.
PHACE syndrome misdiagnosed as a port-wine stain.
Thomson, Jason; Greig, Aina; Lloyd, Claire; Morrison, Danny; Flohr, Carsten
2015-07-15
We present the case of a boy born with a large macular, segmental vascular anomaly over the left face, initially diagnosed as a capillary malformation (port-wine stain) by the postnatal paediatric team. The vascular anomaly in the face then grew rapidly during the first few weeks of life and started to occlude the left eye, causing parental concerns about the infant's vision. A dermatological opinion established that the lesion was a segmental infantile haemangioma (IH). This, in combination with the posterior fossa malformation previously detected on antenatal scanning and confirmed by an MRI postnatally, satisfied the criteria for Posterior fossa abnormalities, Haemangiomas, Arterial abnormalities, Cardiac abnormalities and Eye abnormalities (PHACE) syndrome: a rare cutaneous neurovascular syndrome. This case highlights the diagnostic challenge posed by early phenotypes of haemangiomas as well as the importance of correctly diagnosing PHACE syndrome. 2015 BMJ Publishing Group Ltd.
Queen, Saulette R; Smulevitz, Beverly; Rentfro, Anne R; Vatcheva, Kristina P; Kim, Hyunggun; McPherson, David D; Hanis, Craig L; Fisher-Hoch, Susan P; McCormick, Joseph B; Laing, Susan T
2012-04-01
Resting ischemic electrocardiographic abnormalities have been associated with cardiovascular mortality. Simple markers of abnormal autonomic tone have also been associated with diabetes, obesity, and the metabolic syndrome in some populations. Data on these electrocardiographic abnormalities and correlations with coronary risk factors are lacking among Mexican Americans wherein these conditions are prevalent. This study aimed to evaluate the prevalent resting electrocardiographic abnormalities among community-dwelling Mexican Americans, and correlate these findings with coronary risk factors, particularly diabetes, obesity, and the metabolic syndrome. Study subjects (n=1280) were drawn from the Cameron County Hispanic Cohort comprised of community-dwelling Mexican Americans living in Brownsville, Texas at the United States-Mexico border. Ischemic electrocardiographic abnormalities were defined as presence of ST/T wave abnormalities suggestive of ischemia, abnormal Q waves, and left bundle branch block. Parameters that reflect autonomic tone, such as heart rate-corrected QT interval and resting heart rate, were also measured. Ischemic electrocardiographic abnormalities were more prevalent among older persons and those with hypertension, diabetes, obesity, and the metabolic syndrome. Subjects in the highest quartiles of QTc interval and resting heart rate were also more likely to be diabetic, hypertensive, obese, or have the metabolic syndrome. Among Mexican Americans, persons with diabetes, obesity, and the metabolic syndrome were more likely to have ischemic electrocardiographic abnormalities, longer QTc intervals, and higher resting heart rates. A resting electrocardiogram can play a complementary role in the comprehensive evaluation of cardiovascular risk in this minority population.
... places, nurses can monitor heart rate, blood pressure, temperature, and the oxygen level in the blood. Any abnormalities in these ... corrected to prevent further damage to the brain. Oxygen is often given immediately, ... body temperature, measures are taken to cool (see Heatstroke : Treatment ) ...
Managing malocclusion in the mixed dentition: six keys to success part 2.
Fleming, Padhraig; Johal, Ama; DiBiase, Andrew T
2008-12-01
Regular recall strategies ensure the general dental practitioner is ideally placed to recognize, manage and correct many occlusal problems in the mixed dentition phase. The first paper focused on recognition of normal and abnormal occlusal development, cessation of habits and correction of crossbites. This paper considers management of leeway space, highlights the importance of palpation of unerupted maxillary canines, and discusses the need for judicious removal of primary teeth (Keys 4-6).
Two-staged Correction of Severe Congenital Scoliosis Associated With Intraspinal Abnormalities.
Zhang, Zhenxing; Hui, Hua; Liu, Tuanjiang; Zhang, Zhenping; Hao, Dingjun
2016-10-01
A retrospective study. To analyze the efficacy and safety of perioperative halo-gravity traction as an adjunct to posterior vertebral column resection (PVCR) in the treatment of patients with severe congenital scoliosis and coexisting asymptomatic intraspinal pathologies (diastematomyelia and/or tethered cord). Few reports to our knowledge review the use of perioperative halo-gravity traction and PVCR in this patient population. A total of 17 patients with a minimum 2-year follow-up who underwent PVCR using perioperative halo-gravity traction were analyzed. Patients were analyzed by age at date of examination (range, 11-23 y; mean, 14.4 y), sex (7 male, 10 female), major coronal curve magnitude (range, 108-149 degrees; average, 125 degrees), major sagittal curve magnitude (range, 72-118 degrees; average, 91 degrees). Complications related to halo traction and PVCR were reviewed. Radiographic outcomes demonstrated Cobb angle of major curve had an average correction of 28% after halo traction and it measured 53 degrees (range, 42-84 degrees) at the last follow-up, for a 58% correction. Maximal kyphosis improved to 58 degrees (range, 43-76 degrees) at ultimate follow-up. There were no permanent neurological deficits in this series. The study results suggested that surgical treatment for intraspinal abnormality may be unnecessary in asymptomatic patients with severe congenital scoliosis who are undergoing scoliosis corrective surgery. PVCR combined with perioperative traction is a safe and effective alternative for such patients.
Yiu, Wai Han; Pan, Chi-Jiunn; Allamarvdasht, Mohammad; Kim, So Youn; Chou, Janice Y.
2008-01-01
Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT), an endoplasmic reticulum-associated transmembrane protein that is ubiquitously expressed. GSD-Ib patients suffer from disturbed glucose homeostasis and myeloid dysfunctions. To evaluate the feasibility of gene replacement therapy for GSD-Ib, we have infused adenoviral (Ad) vector containing human G6PT (Ad-hG6PT) into G6PT-deficient (G6PT-/-) mice that manifest symptoms characteristics of the human disorder. Ad-hG6PT-infusion restores significant levels of G6PT mRNA expression in the liver, bone marrow, and spleen and corrects metabolic as well as myeloid abnormalities in G6PT-/- mice. The G6PT-/- mice receiving gene therapy exhibit improved growth; normalized serum profiles for glucose, cholesterol, triglyceride, uric acid, and lactic acid; and reduced hepatic glycogen deposition. The therapy also corrects neutropenia and lowers the elevated serum levels of granulocyte colony stimulating factor. The development of bone and spleen in the infused G6PT-/- mice is improved and accompanied by increased cellularity and normalized myeloid progenitor cell frequencies in both tissues. This effective use of gene therapy to correct metabolic imbalances and myeloid dysfunctions in GSD-Ib mice holds promise for the future of gene therapy in humans. PMID:17006547
Salen, Philip; Heller, Michael; Oller, Carlo; Reed, James
2009-07-01
The prevalence of cognitive impairment, as reflected by failure to correctly perform a clock drawing task, in elderly Emergency Department (ED) patients was assessed. Additionally, we evaluated whether primary care provider notification of cognitive impairment spurred further cognitive evaluation. The clock drawing task was administered to a convenience sample of 100 elderly, English-speaking subjects presenting for reasons other than altered mentation at a community hospital ED. Primary care providers were contacted regarding abnormal clock drawing task results immediately and again after 2 months to determine if there was further evaluation of cognition. Of the 100 subjects enrolled, 30% were unable to correctly complete the clock drawing task, but only 8 had further evaluation of their cognitive abilities, resulting in four new diagnoses of dementia. Subjects who drew incorrect clocks (54%; 16/30) were more likely to be reevaluated in the ED within 2 months than those who drew correct clocks (29%; 20/70; p < 0.02). Cognitive screening of elderly ED patients with the clock drawing task identified a substantial number with unsuspected abnormal cognition. Further evaluation by their primary care physicians in follow-up was disappointing.
Disorders of the neonatal nasal cavity: Fundamentals for practice.
Sohal, Maheep; Schoem, Scott R
2016-08-01
Neonatal nasal obstruction is a well-known clinical entity. Fortunately, it is rarely life-threatening and usually resolves with conservative management. As with most conditions, a systematic history and thorough physical examination are crucial for correct diagnosis and management. The initial diagnosis may be elusive and require either serial or more in-depth evaluations. Occasionally, examination may reveal structural abnormalities necessitating surgical intervention. Fortunately most of these abnormalities are amenable to surgery; however, a select few are notoriously difficult to treat. Copyright © 2016. Published by Elsevier Ltd.
Parli, Sara E; Ruf, Kathryn M; Magnuson, Barbara
2014-01-01
Refeeding syndrome may occur after the reintroduction of carbohydrates in chronically malnourished or acutely hypermetabolic patients as a result of a rapid shift to glucose utilization as an energy source. Electrolyte abnormalities of phosphorus, potassium, and magnesium occur, leading to complications of various organ systems, and may result in death. Patients should be screened for risk factors of malnutrition to prevent refeeding syndrome. For those at risk, nutrition should be initiated and slowly advanced toward the patient's goal over several days. Electrolyte disturbances should be aggressively corrected.
Mach, Steven; Garas, Shady; Kim, Ivana K; Vavvas, Demetrios G; Miller, Joan W; Husain, Deeba; Miller, John B
2017-01-01
Purpose Eyes with age-related macular degeneration (AMD) often harbor pathological changes in the retinal periphery and perimacular region. These extramacular changes have not been well classified, but may be phenotypically and functionally relevant. The purpose of this study was to demonstrate a novel grid to systematically study peripheral retinal abnormalities in AMD using geometric distortion-corrected ultra-widefield (UWF) imaging. Methods This is a cross-sectional observational case series. Consecutive patients with AMD without any other coexisting vitreoretinal disease and control patients over age 50 without AMD or any other vitreoretinal disease were imaged using Optos 200 Tx. Captured 200° UWF images were corrected for peripheral geometric distortion using Optos transformation software. A newly developed grid to study perimacular and peripheral abnormalities in AMD was then projected onto the images. Results Peripheral and perimacular changes such as drusen, retinal pigment epithelium changes and atrophy were found in patients with AMD. The presented grid in conjunction with geometric distortion-corrected UWF images allowed for systematic study of these peripheral changes in AMD. Conclusion We present a novel grid to study peripheral and posterior pole changes in AMD. The grid is unique in that it adds a perimacular zone, which may be important in characterizing certain phenotypes in AMD. Our UWF images were corrected for geometric peripheral distortion to accurately reflect the anatomical dimensions of the retina. This grid offers a reliable and reproducible foundation for the exploration of peripheral retinal pathology associated with AMD. PMID:29184386
Gella, Laxmi; Raman, Rajiv; Kulothungan, Vaitheeswaran; Saumya Pal, Swakshyar; Ganesan, Suganeswari; Sharma, Tarun
2016-06-01
To evaluate retinal sensitivity (RS) in subjects with diabetes in a population-based study and to elucidate associated risk factors for abnormal RS. A subset of 357 subjects from Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetics Study-II was included in this study. All subjects underwent detailed ophthalmic evaluation including microperimetry and spectral domain optical coherence tomography. The prevalence of abnormal mean retinal sensitivity (MRS) was 89.1%. MRS was significantly reduced in subjects with diabetes but no retinopathy when compared with non-diabetic subjects. MRS was reduced in moderate non-proliferative diabetic retinopathy (DR) and macular oedema (ME) at 8° (p=0.04, p=0.01, respectively) and in ME at 10° (p=0.009) and 12° (p=0.036) compared with no DR. Significant negative correlation was found between MRS and best corrected visual acuity, duration of diabetes, glycosylated haemoglobin and central foveal thickness. Increased retinal thickness remained a significant risk factor (OR, 1.02; p=0.044) for abnormal MRS. Altered inner retinal layers and foveal contour were associated with reduced MRS among subjects with DR and presence of epiretinal membrane, altered foveal contour and altered retinal pigment epithelium were associated with reduced MRS. Reduced RS in those subjects with diabetes but no retinopathy suggests the early neuronal damage in type 2 diabetes mellitus. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
Jarouliya, Urmila; Zacharia, J Anish; Kumar, Pravin; Bisen, P S; Prasad, G B K S
2012-03-01
Diabetes mellitus is a metabolic disorder characterized by hyperglycaemia. Several natural products have been isolated and identified to restore the complications of diabetes. Spirulina maxima is naturally occurring fresh water cyanobacterium, enriched with proteins and essential nutrients. The aim of the study was to determine whether S. maxima could serve as a therapeutic agent to correct metabolic abnormalities induced by excessive fructose administration in Wistar rats. Oral administration of 10 per cent fructose solution to Wistar rats (n = 5 in each group) for 30 days resulted in hyperglycaemia and hyperlipidaemia. Aqueous suspension of S. maxima (5 or 10%) was also administered orally once daily for 30 days. The therapeutic potential of the preparation with reference to metformin (500 mg/kg) was assessed by monitoring various biochemical parameters at 10 day intervals during the course of therapy and at the end of 30 days S. maxima administration. Significant (P<0.001) reductions in blood glucose, lipid profile (triglycerides, cholesterol and LDL, VLDL) and liver function markers (SGPT and SGOT) were recorded along with elevated level of HDL-C at the end of 30 days therapy of 5 or 10 per cent S. maxima aquous extract. Co-administration of S. maxima extract (5 or 10% aqueous) with 10 per cent fructose solution offered a significant protection against fructose induced metabolic abnormalities in Wistar rats. The present findings showed that S. maxima exhibited anti-hyperglycaemic, anti-hyperlipidaemic and hepatoprotective activity in rats fed with fructose. Further studies are needed to understand the mechanisms.
Jarouliya, Urmila; Anish, Zacharia J.; Kumar, Pravin; Bisen, P.S.; Prasad, G.B.K.S.
2012-01-01
Background & objectives: Diabetes mellitus is a metabolic disorder characterized by hyperglycaemia. Several natural products have been isolated and identified to restore the complications of diabetes. Spirulina maxima is naturally occurring fresh water cyanobacterium, enriched with proteins and essential nutrients. The aim of the study was to determine whether S. maxima could serve as a therapeutic agent to correct metabolic abnormalities induced by excessive fructose administration in Wistar rats. Methods: Oral administration of 10 per cent fructose solution to Wistar rats (n=5 in each group) for 30 days resulted in hyperglycaemia and hyperlipidaemia. Aqueous suspension of S. maxima (5 or 10%) was also administered orally once daily for 30 days. The therapeutic potential of the preparation with reference to metformin (500 mg/kg) was assessed by monitoring various biochemical parameters at 10 day intervals during the course of therapy and at the end of 30 days S. maxima administration. Results: Significant (P<0.001) reductions in blood glucose, lipid profile (triglycerides, cholesterol and LDL, VLDL) and liver function markers (SGPT and SGOT) were recorded along with elevated level of HDL-C at the end of 30 days therapy of 5 or 10 per cent S. maxima aquous extract. Co-administration of S. maxima extract (5 or 10% aqueous) with 10 per cent fructose solution offered a significant protection against fructose induced metabolic abnormalities in Wistar rats. Interpretation & Conclusions: The present findings showed that S. maxima exhibited anti-hyperglycaemic, anti-hyperlipidaemic and hepatoprotective activity in rats fed with fructose. Further studies are needed to understand the mechanisms. PMID:22561632
Early school outcomes for extremely preterm infants with transient neurological abnormalities.
Harmon, Heidi M; Taylor, H Gerry; Minich, Nori; Wilson-Costello, Deanne; Hack, Maureen
2015-09-01
To determine if transient neurological abnormalities (TNA) at 9 months corrected age predict cognitive, behavioral, and motor outcomes at 6 years of age in extremely preterm infants. A cohort of 124 extremely preterm infants (mean gestational age 25.5wks; 55 males, 69 females), admitted to our unit between 2001 and 2003, were classified based on the Amiel-Tison Neurological Assessment at 9 months and 20 months corrected age as having TNA (n=17), normal neurological assessment (n=89), or neurologically abnormal assessment (n=18). The children were assessed at a mean age of 5 years 11 months (SD 4mo) on cognition, academic achievement, motor ability, and behavior. Compared with children with a normal neurological assessment, children with TNA had higher postnatal exposure to steroids (35% vs 9%) and lower adjusted mean scores on spatial relations (84 [standard error {SE} 5] vs 98 [SE 2]), visual matching (79 [SE 5] vs 91 [SE 2]), letter-word identification (97 [SE 4] vs 108 [SE 1]), and spelling (76 [SE 4] vs 96 [SE 2]) (all p<0.05). Despite a normalized neurological assessment, extremely preterm children with a history TNA are at higher risk for lower cognitive and academic skills than those with normal neurological findings during their first year of school. © 2015 Mac Keith Press.
Early school outcomes for extremely preterm infants with transient neurological abnormalities
Harmon, Heidi; Taylor, H Gerry; Minich, Nori; Wilson-Costello, Deanne; Hack, Maureen
2015-01-01
AIM To determine if transient neurological abnormalities (TNA) at 9 months corrected age predict cognitive, behavioral, and motor outcomes at 6 years of age in extremely preterm infants. METHOD A cohort of 124 extremely preterm infants (mean gestational age 25.5wk; 55 males, 69 females), admitted to our unit between 2001 and 2003, were classified based on the Amiel-Tison Neurological Assessment at 9 months and 20 months corrected age as having TNA (n=17), normal neurological assessment (n=89), or neurologically abnormal assessment (n=18). The children were assessed at a mean age of 5 years 11 months (SD 4mo) on cognition, academic achievement, motor ability, and behavior. RESULTS Compared with children with a normal neurological assessment, children with TNA had higher postnatal exposure to steroids (35% vs 9%) and lower adjusted mean scores on spatial relations (84 [standard error {SE} 5] vs 98 [SE 2]), visual matching (79 [SE 5] vs 91 [SE 2]), letter–word identification (97 [SE 4] vs 108 [SE 1]), and spelling (76 [SE 4] vs 96 [SE 2]) (all p<0.05). INTERPRETATION Despite a normalized neurological assessment, extremely preterm children with a history TNA are at higher risk for lower cognitive and academic skills than those with normal neurological findings during their first year of school. PMID:26014665
Frontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.
Valério, R A; Scatena, C; Santos, F R R; Romano, F L; Queiroz, A M; Paula-Silva, F W G
2017-04-01
Frontonasal dysplasia is a complex rare malformation, characterised by abnormalities involving the central portion of the face, especially the eyes, nose and forehead. It can manifest independently or associated with other abnormalities as part of some syndromes. The purpose of this case report was to describe a 5-year-old patient, diagnosed with frontonasal dysplasia. Among the abnormalities characterised with this disorder were ocular hypertelorism, broad nose tip with median notch, median facial cleft, bifid anterior skull, low set hairline, Poland's syndactyly and ankyloglossia. Consisted of behavioural management, oral hygiene instruction, prophylaxis, topical fluoride application, extraction of primary teeth, composite resin restorations and sealants in pits and fissures. Preformed metal crowns were also applied to the right and left primary maxillary second molars. Currently, the patient is 11 years-old in the permanent dentition and therefore was referred for corrective orthodontic and periodontal treatments due to the persistence of gingival retraction of the permanent mandibular right central incisor. The treatment in this case was directed to the promotion of oral health and orthodontic corrections, which are of fundamental importance due to medical, physical and social limitations of children affected by this syndrome, hindering healing and rehabilitative treatment. Paediatric dentists should be included in multidisciplinary teams providing care to patients with special needs, improving their quality of life.
Tchernichovski, Ofer; Marcus, Gary
2014-01-01
Studies of vocal learning in songbirds typically focus on the acquisition of sensory templates for song imitation and on the consequent process of matching song production to templates. However, functional vocal development also requires the capacity to adaptively diverge from sensory templates, and to flexibly assemble vocal units. Examples of adaptive divergence include the corrective imitation of abnormal songs, and the decreased tendency to copy overabundant syllables. Such frequency-dependent effects might mirror tradeoffs between the assimilation of group identity (culture) while establishing individual and flexibly expressive songs. Intriguingly, although the requirements for vocal plasticity vary across songbirds, and more so between birdsong and language, the capacity to flexibly assemble vocal sounds develops in a similar, stepwise manner across species. Therefore, universal features of vocal learning go well beyond the capacity to imitate. PMID:25005823
2014-02-25
prognosis of viral infections, particu- larly in neonates and infants at risk of developing septic shock (Griffin and Moorman, 2001; Griffin et al...2004, 2005). In their studies, it was reported that abnormal HR with reduced variabil- ity and transient decelerations preceded neonatal /infant sepsis...hospital resuscitative treatment in DHF patients. After correction for prevailing HR, LF variability was still significantly increased (both P < 0.01) on day
Le Henaff, Carole; Faria Da Cunha, Mélanie; Hatton, Aurélie; Tondelier, Danielle; Marty, Caroline; Collet, Corinne; Zarka, Mylène; Geoffroy, Valérie; Zatloukal, Kurt; Laplantine, Emmanuel; Edelman, Aleksander; Sermet-Gaudelus, Isabelle; Marie, Pierre J
2016-04-01
Patients with cystic fibrosis (CF) display low bone mass and alterations in bone formation. Mice carrying the F508del genetic mutation in the cystic fibrosis conductance regulator (Cftr) gene display reduced bone formation and decreased bone mass. However, the underlying molecular mechanisms leading to these skeletal defects are unknown, which precludes the development of an efficient anti-osteoporotic therapeutic strategy. Here we report a key role for the intermediate filament protein keratin 8 (Krt8), in the osteoblast dysfunctions in F508del-Cftr mice. We found that murine and human osteoblasts express Cftr and Krt8 at low levels. Genetic studies showed that Krt8 deletion (Krt8(-/-)) in F508del-Cftr mice increased the levels of circulating markers of bone formation, corrected the expression of osteoblast phenotypic genes, promoted trabecular bone formation and improved bone mass and microarchitecture. Mechanistically, Krt8 deletion in F508del-Cftr mice corrected overactive NF-κB signaling and decreased Wnt-β-catenin signaling induced by the F508del-Cftr mutation in osteoblasts. In vitro, treatment with compound 407, which specifically disrupts the Krt8-F508del-Cftr interaction in epithelial cells, corrected the abnormal NF-κB and Wnt-β-catenin signaling and the altered phenotypic gene expression in F508del-Cftr osteoblasts. In vivo, short-term treatment with 407 corrected the altered Wnt-β-catenin signaling and bone formation in F508del-Cftr mice. Collectively, the results show that genetic or pharmacologic targeting of Krt8 leads to correction of osteoblast dysfunctions, altered bone formation and osteopenia in F508del-Cftr mice, providing a therapeutic strategy targeting the Krt8-F508del-CFTR interaction to correct the abnormal bone formation and bone loss in cystic fibrosis. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Lowe, V.J.; Patz, E.; Harris, P.L.
Pleural abnormalities identified on anatomical studies are often nonspecific and may represent benign or malignant disease. We prospectively evaluated the ability of FDG-PET to identify malignancy in patients with pleural abnormalities detected on chest radiographs or chest CT. Thirty-two patients with pleural abnormalities (pleural masses, thickening or effusions) found on chest radiographs or CT were evaluated by FDG-PET. Regions of interest (ROI) were identified on the PET images correlating to anatomic abnormalities and standard uptake ratios (SUR`s) of these ROI`s were calculated. A SUR value of 2.5 or greater was considered positive for malignancy. Physicians blinded to biopsy results gradedmore » their confidence of malignancy (1-5 scale) and graded lesion FDG uptake with respect to mediastinal radioactivity. Twenty-three of the patients had definitive diagnoses by tissue biopsy. Seventeen of these patients had malignant (SUR=7.9{plus_minus}3.8) and 6 had benign (SUR=2.8{plus_minus}2.4) causes of their pleural abnormalities (p=0.001). All but two malignant cases had SURs higher than 2.5 and one of these two was correctly interpreted by the observers. SURs lower than 2.5 were seen in four of the six (67%) benign pleural abnormalities. Using a combination of both visual and semiquantitative analysis, the sensitivity of FDG-PET for detecting malignant pleural abnormalities was 94%. Active infections in the pleural space had increased FDG uptake on PET studies while other benign pleural abnormalities did not. FDG-PET has very high sensitivity for detecting malignant pleural abnormalities and can differentiate benign from malignant pleural abnormalities.« less
The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome.
Veerapandiyan, Aravindhan; Blalock, David; Ghosh, Srija; Ip, Edward; Barnes, Craig; Shashi, Vandana
2011-04-01
To report our experience with cephalometry in evaluating velopharyngeal dysfunction (VPD) in velocardiofacial syndrome (VCFS) and its utility in assessing the role of cervical spine abnormalities in VPD, prior to surgical correction of VPD. Clinical charts and cephalometric radiographs done prior to surgery for VPD were retrospectively analyzed to ascertain velopharyngeal measurements and cervical spine abnormalities. Twenty-six patients (age: 6-23 years) with molecularly confirmed VCFS. Wake Forest University Health Sciences (1997-2005). Cranial base angle, nasopharyngeal depth, velum length, and Need ratio at rest, velar dimple location, and velopharyngeal length during phonation; information on presence/absence of submucous cleft palate and cervical spine abnormalities were also obtained. The relationship between C1 anterior arch abnormalities and Need ratio was examined. Seventy-three percent of the VCFS patients had excessive nasopharyngeal depth, 80% had an abnormal Need ratio, 50% had a short velum, 81% had a submucous or occult submucous cleft palate, 90.5% had a cervical spine abnormality (C1 anterior arch abnormalities in 38%) and 11.5% had platybasia. There was a significant difference in the Need ratio between patients with and without C1 anterior arch abnormalities. Cephalometry can be used to delineate factors such as C1 vertebral abnormalities, excessive pharyngeal depth, and short velum that contribute to VPD in VCFS. This would help otolaryngologists better understand the anatomy prior to surgical treatment of VPD. This is the first study to highlight the frequent occurrence of C1 anterior arch abnormalities in VCFS. Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc., Rhinological, and Otological Society, Inc.
Yamada, Shigehiro; Hotta, Kohji; Yamamoto, Takamasa S; Ueno, Naoto; Satoh, Nori; Takahashi, Hiroki
2009-04-01
The midline organ the notochord and its overlying dorsal neural tube are the most prominent features of the chordate body plan. Although the molecular mechanisms involved in the formation of the central nervous system (CNS) have been studied extensively in vertebrate embryos, none of the genes that are expressed exclusively in notochord cells has been shown to function in this process. Here, we report a gene in the urochordate Ciona intestinalis encoding a fibrinogen-like protein that plays a pivotal role in the notochord-dependent positioning of neuronal cells. While this gene (Ci-fibrn) is expressed exclusively in notochord cells, its protein product is not confined to these cells but is distributed underneath the CNS as fibril-like protrusions. We demonstrated that Ci-fibrn interacts physically and functionally with Ci-Notch that is expressed in the central nervous system, and that the correct distribution of Ci-fibrn protein is dependent on Notch signaling. Disturbance of the Ci-fibrn distribution caused an abnormal positioning of neuronal cells and an abnormal track of axon extension. Therefore, it is highly likely that the interaction between the notochord-based fibrinogen-like protein and the neural tube-based Notch signaling plays an essential role in the proper patterning of CNS.
Abnormal myocardial repolarisation in response to hypoxaemia and fenoterol.
Kiely, D. G.; Cargill, R. I.; Grove, A.; Struthers, A. D.; Lipworth, B. J.
1995-01-01
BACKGROUND--Prolongation of the QTc interval has been associated with cardiac dysrhythmias and sudden death. QTc dispersion (interlead variability in QTc interval) has recently been proposed as being a more sensitive marker of repolarisation abnormalities and shown to be a more specific index of arrhythmia risk. Although hypoxaemia and fenoterol have previously been shown to prolong the QTc interval, this does not reflect regional myocardial repolarisation abnormalities. METHODS--Electrophysiological effects were measured at baseline and after 30 minutes steady state hypoxaemia at an arterial oxygen saturation (SaO2) of 75-80% (study 1) and at baseline then 30 minutes after inhaled fenoterol 2.4 mg (study 2). From the ECG, lead II corrected QT interval (QTc) and overall corrected QT dispersion were measured using a computer linked digitising tablet according to standard criteria. RESULTS--QTc dispersion was increased during hypoxia compared with baseline values (mean (SE) 69 (6) ms v 50 (5) ms) and after fenoterol compared with baseline (79 (13) v 46 (4) ms), respectively. There was also an increase in QTc interval and heart rate after fenoterol (493 (23) v 420 (6) ms and 98 (3) v 71 (6) bpm, respectively). The heart rate was increased during hypoxaemia compared with baseline (78 (3) v 64 (2) bpm), but no change occurred in the QTc interval. CONCLUSIONS--Both hypoxaemia and fenoterol cause myocardial repolarisation abnormalities in man in terms of increased QTc dispersion, but only fenoterol increased the QTc interval. This may be relevant in the aetiology of arrhythmias in patients with acute severe asthma where beta agonist therapy and hypoxaemia coexist. PMID:7491554
Kadriu, Bashkim; Gold, Philip W; Luckenbaugh, David A; Lener, Marc S; Ballard, Elizabeth D; Niciu, Mark J; Henter, Ioline D; Park, Lawrence T; De Sousa, Rafael Teixeira; Yuan, Peixiong; Machado-Vieira, Rodrigo; Zarate, Carlos A
2017-01-01
Patients with major depressive disorder (MDD) have clinically relevant, significant decreases in bone mineral density (BMD). We sought to determine if predictive markers of bone inflammation—the osteoprotegerin (OPG)-RANK-RANKL system or osteopontin (OPN)—play a role in the bone abnormalities associated with MDD and, if so, whether ketamine treatment corrected the abnormalities. The OPG-RANK-RANKL system plays the principal role in determining the balance between bone resorption and bone formation. RANKL is the osteoclast differentiating factor and diminishes BMD. OPG is a decoy receptor for RANKL, thereby increasing BMD. OPN is the bone glue that acts as a scaffold between bone tissues matrix composition to bind them together and is an important component of bone strength and fracture resistance. Twenty-eight medication-free inpatients with treatment-resistant MDD and 16 healthy controls (HCs) participated in the study. Peripheral bone marker levels and their responses to IV ketamine infusion in MDD patients and HCs were measured at four time points: at baseline, and post-infusion at 230 minutes, Day 1, and Day 3. Patients with MDD had significant decreases in baseline OPG/RANKL ratio and in plasma OPN levels. Ketamine significantly increased both the OPG/RANKL ratio and plasma OPN levels and significantly decreased RANKL levels. Bone marker levels in HCs remained unaltered. We conclude that the OPG-RANK-RANKL system and the OPN system play important roles in the serious bone abnormalities associated with MDD. These data suggest that in addition to its antidepressant effects, ketamine also has a salutary effect on a major medical complication of depressive illness. PMID:28555075
Bates, Anthony; Miles, Kenneth
2017-12-01
To validate MR textural analysis (MRTA) for detection of transition zone (TZ) prostate cancer through comparison with co-registered prostate-specific membrane antigen (PSMA) PET-MR. Retrospective analysis was performed for 30 men who underwent simultaneous PSMA PET-MR imaging for staging of prostate cancer. Thirty texture features were derived from each manually contoured T2-weighted, transaxial, prostatic TZ using texture analysis software that applies a spatial band-pass filter and quantifies texture through histogram analysis. Texture features of the TZ were compared to PSMA expression on the corresponding PET images. The Benjamini-Hochberg correction controlled the false discovery rate at <5%. Eighty-eight T2-weighted images in 18 patients demonstrated abnormal PSMA expression within the TZ on PET-MR. 123 images were PSMA negative. Based on the corrected p-value of 0.005, significant differences between PSMA positive and negative slices were found for 16 texture parameters: Standard deviation and mean of positive pixels for all spatial filters (p = <0.0001 for both at all spatial scaling factor (SSF) values) and mean intensity following filtration for SSF 3-6 mm (p = 0.0002-0.0018). Abnormal expression of PSMA within the TZ is associated with altered texture on T2-weighted MR, providing validation of MRTA for the detection of TZ prostate cancer. • Prostate transition zone (TZ) MR texture analysis may assist in prostate cancer detection. • Abnormal transition zone PSMA expression correlates with altered texture on T2-weighted MR. • TZ with abnormal PSMA expression demonstrates significantly reduced MI, SD and MPP.
Surgical correction of brachycephalic syndrome in dogs: 62 cases (1991-2004).
Riecks, Todd W; Birchard, Stephen J; Stephens, Julie A
2007-05-01
To assess results of surgical correction of brachycephalic syndrome (including stenotic nares, elongated soft palate, and everted laryngeal saccules) in dogs and determine whether dogs with hypoplastic trachea have a less favorable long-term outcome. Retrospective case series. 62 dogs with brachycephalic syndrome. Medical records from 1991 to 2004 were reviewed for information regarding signalment, clinical signs, diagnosis, surgery, and long-term outcome. Surgical outcome was rated by owners as excellent, good, fair, or poor. Common abnormalities, treatments, and long-term outcomes among the 62 dogs were assessed. Predominantly affected breeds included English Bulldog, Pug, and Boston Terrier. Elongated soft palate was the most common abnormality (54/62 [87.1%] dogs); the most common combination of abnormalities was elongated soft palate, stenotic nares, and everted saccules (16/62 [25.8%] dogs). The English Bulldog was the most common breed for all abnormalities, including elongated soft palate (27/54 [50%] dogs), stenotic nares (14/36 [38.9%] dogs), everted saccules (20/36 [55.6%] dogs), hypoplastic trachea (7/13 [53.9%] dogs), and laryngeal collapse (2/5 [40%]). No dogs had everted saccules alone. Outcome did not differ between dogs under-going staphylectomy by use of laser or scissor resection. Follow-up information was obtained for 34 dogs; 16 (47.1%) had an excellent outcome, and 16 (47.1%) had a good outcome. Overall treatment success rate was 94.2%, and overall mortality rate was 3.2%. Surgical treatment of brachycephalic syndrome in dogs appeared to be associated with a favorable long-term outcome, regardless of age, breed, specific diagnoses, or number and combinations of diagnoses.
NASA Astrophysics Data System (ADS)
Abu Anas, Emran Mohammad; Kim, Jae Gon; Lee, Soo Yeol; Kamrul Hasan, Md
2011-10-01
The use of an x-ray flat panel detector is increasingly becoming popular in 3D cone beam volume CT machines. Due to the deficient semiconductor array manufacturing process, the cone beam projection data are often corrupted by different types of abnormalities, which cause severe ring and radiant artifacts in a cone beam reconstruction image, and as a result, the diagnostic image quality is degraded. In this paper, a novel technique is presented for the correction of error in the 2D cone beam projections due to abnormalities often observed in 2D x-ray flat panel detectors. Template images are derived from the responses of the detector pixels using their statistical properties and then an effective non-causal derivative-based detection algorithm in 2D space is presented for the detection of defective and mis-calibrated detector elements separately. An image inpainting-based 3D correction scheme is proposed for the estimation of responses of defective detector elements, and the responses of the mis-calibrated detector elements are corrected using the normalization technique. For real-time implementation, a simplification of the proposed off-line method is also suggested. Finally, the proposed algorithms are tested using different real cone beam volume CT images and the experimental results demonstrate that the proposed methods can effectively remove ring and radiant artifacts from cone beam volume CT images compared to other reported techniques in the literature.
Medrano-Gracia, Pau; Cowan, Brett R; Bluemke, David A; Finn, J Paul; Kadish, Alan H; Lee, Daniel C; Lima, Joao A C; Suinesiaputra, Avan; Young, Alistair A
2013-09-13
Cardiovascular imaging studies generate a wealth of data which is typically used only for individual study endpoints. By pooling data from multiple sources, quantitative comparisons can be made of regional wall motion abnormalities between different cohorts, enabling reuse of valuable data. Atlas-based analysis provides precise quantification of shape and motion differences between disease groups and normal subjects. However, subtle shape differences may arise due to differences in imaging protocol between studies. A mathematical model describing regional wall motion and shape was used to establish a coordinate system registered to the cardiac anatomy. The atlas was applied to data contributed to the Cardiac Atlas Project from two independent studies which used different imaging protocols: steady state free precession (SSFP) and gradient recalled echo (GRE) cardiovascular magnetic resonance (CMR). Shape bias due to imaging protocol was corrected using an atlas-based transformation which was generated from a set of 46 volunteers who were imaged with both protocols. Shape bias between GRE and SSFP was regionally variable, and was effectively removed using the atlas-based transformation. Global mass and volume bias was also corrected by this method. Regional shape differences between cohorts were more statistically significant after removing regional artifacts due to imaging protocol bias. Bias arising from imaging protocol can be both global and regional in nature, and is effectively corrected using an atlas-based transformation, enabling direct comparison of regional wall motion abnormalities between cohorts acquired in separate studies.
Dimitrijević, Lidija; Bjelaković, Bojko; Čolović, Hristina; Mikov, Aleksandra; Živković, Vesna; Kocić, Mirjana; Lukić, Stevo
2016-08-01
Adverse neurologic outcome in preterm infants could be associated with abnormal heart rate (HR) characteristics as well as with abnormal general movements (GMs) in the 1st month of life. To demonstrate to what extent GMs assessment can predict neurological outcome in preterm infants in our clinical setting; and to assess the clinical usefulness of time-domain indices of heart rate variability (HRV) in improving predictive value of poor repertoire (PR) GMs in writhing period. Qualitative assessment of GMs at 1 and 3 months corrected age; 24h electrocardiography (ECG) recordings and analyzing HRV at 1 month corrected age. Seventy nine premature infants at risk of neurodevelopmental impairments were included prospectively. Neurodevelopmental outcome was assessed at the age of 2 years corrected. Children were classified as having normal neurodevelopmental status, minor neurologic dysfunction (MND), or cerebral palsy (CP). We found that GMs in writhing period (1 month corrected age) predicted CP at 2 years with sensitivity of 100%, and specificity of 72.1%. Our results demonstrated the excellent predictive value of cramped synchronized (CS) GMs, but not of PR pattern. Analyzing separately a group of infants with PR GMs we found significantly lower values of HRV parameters in infants who later developed CP or MND vs. infants with PR GMs who had normal outcome. The quality of GMs was predictive for neurodevelopmental outcome at 2 years. Prediction of PR GMs was significantly enhanced with analyzing HRV parameters. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
... to treat abnormal heart rhythms. It works by making your heart more resistant to abnormal activity. Quinidine ... This branded product is no longer on the market. Generic alternatives may be available.
[Computer simulation of thyroid regulatory mechanisms in health and malignancy].
Abduvaliev, A A; Gil'dieva, M S; Khidirov, B N; Saĭdalieva, M; Saatov, T S
2010-07-01
The paper describes a computer model for regulation of the number of thyroid follicular cells in health and malignancy. The authors'computer program for mathematical simulation of the regulatory mechanisms of a thyroid follicular cellular community cannot be now referred to as good commercial products. For commercialization of this product, it is necessary to draw up a direct relation of the introduced corrected values from the actually existing normal values, such as the peripheral blood concentrations of thyroid hormones or the mean values of endocrine tissue mitotic activity. However, the described computer program has been also used in researches by our scientific group in the study of thyroid cancer. The available biological experimental data and theoretical provisions on thyroid structural and functional organization at the cellular level allow one to construct mathematical models for quantitative analysis of the regulation of the size of a cellular community of a thyroid follicle in health and abnormalities, by using the method for simulation of the regulatory mechanisms of living systems and the equations of cellular community regulatory communities.
Surface-based brain morphometry and diffusion tensor imaging in schizoaffective disorder.
Landin-Romero, Ramón; Canales-Rodríguez, Erick J; Kumfor, Fiona; Moreno-Alcázar, Ana; Madre, Mercè; Maristany, Teresa; Pomarol-Clotet, Edith; Amann, Benedikt L
2017-01-01
The profile of grey matter abnormalities and related white-matter pathology in schizoaffective disorder has only been studied to a limited extent. The aim of this study was to identify grey- and white-matter abnormalities in patients with schizoaffective disorder using complementary structural imaging techniques. Forty-five patients meeting Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition criteria and Research Diagnostic Criteria for schizoaffective disorder and 45 matched healthy controls underwent structural-T1 and diffusion magnetic resonance imaging to enable surface-based brain morphometry and diffusion tensor imaging analyses. Analyses were conducted to determine group differences in cortical volume, cortical thickness and surface area, as well as in fractional anisotropy and mean diffusivity. At a threshold of p = 0.05 corrected, all measures revealed significant differences between patients and controls at the group level. Spatial overlap of abnormalities was observed across the various structural neuroimaging measures. In grey matter, patients with schizoaffective disorder showed abnormalities in the frontal and temporal lobes, striatum, fusiform, cuneus, precuneus, lingual and limbic regions. White-matter abnormalities were identified in tracts connecting these areas, including the corpus callosum, superior and inferior longitudinal fasciculi, anterior thalamic radiation, uncinate fasciculus and cingulum bundle. The spatial overlap of abnormalities across the different imaging techniques suggests widespread and consistent brain pathology in schizoaffective disorder. The abnormalities were mainly detected in areas that have commonly been reported to be abnormal in schizophrenia, and to some extent in bipolar disorder, which may explain the clinical and aetiological overlap in these disorders.
Radiographic abnormalities among construction workers exposed to quartz containing dust
Tjoe, N; Burdorf, A; Parker, J; Attfield, M; van Duivenbooden, C; Heederik, D
2003-01-01
Background: Construction workers are exposed to quartz containing respirable dust, at levels that may cause fibrosis in the lungs. Studies so far have not established a dose-response relation for radiographic abnormalities for this occupational group. Aims: To measure the extent of radiographic abnormalities among construction workers primarily exposed to quartz containing respirable dust. Methods: A cross sectional study on radiographic abnormalities indicative of pneumoconiosis was conducted among 1339 construction workers mainly involved in grinding, (jack)-hammering, drilling, cutting, sawing, and polishing. Radiological abnormalities were determined by median results of the 1980 International Labour Organisation system of three certified "B" readers. Questionnaires were used for assessment of occupational history, presence of respiratory diseases, and symptoms and smoking habits. Results: An abnormality of ILO profusion category 1/0 and greater was observed on 10.2% of the chest radiographs, and profusion category of 1/1 or greater on 2.9% of the radiographs. The average duration of exposure of this group was 19 years and the average age was 42. The predominant type of small opacities (irregularly shaped) is presumably indicative of mixed dust pneumoconiosis. The prevalence of early signs of nodular silicosis (small rounded opacities of category 1/0 or greater) was low (0.8%). Conclusions: The study suggests an elevated risk of radiographic abnormalities among these workers with expected high exposure. An association between radiographic abnormalities and cumulative exposure to quartz containing dust from construction sites was observed, after correction for potentially confounding variables. PMID:12771392
Ergonomics for enhancing detection of machine abnormalities.
Illankoon, Prasanna; Abeysekera, John; Singh, Sarbjeet
2016-10-17
Detecting abnormal machine conditions is of great importance in an autonomous maintenance environment. Ergonomic aspects can be invaluable when detection of machine abnormalities using human senses is examined. This research outlines the ergonomic issues involved in detecting machine abnormalities and suggests how ergonomics would improve such detections. Cognitive Task Analysis was performed in a plant in Sri Lanka where Total Productive Maintenance is being implemented to identify sensory types that would be used to detect machine abnormalities and relevant Ergonomic characteristics. As the outcome of this research, a methodology comprising of an Ergonomic Gap Analysis Matrix for machine abnormality detection is presented.
Brain abnormality segmentation based on l1-norm minimization
NASA Astrophysics Data System (ADS)
Zeng, Ke; Erus, Guray; Tanwar, Manoj; Davatzikos, Christos
2014-03-01
We present a method that uses sparse representations to model the inter-individual variability of healthy anatomy from a limited number of normal medical images. Abnormalities in MR images are then defined as deviations from the normal variation. More precisely, we model an abnormal (pathological) signal y as the superposition of a normal part ~y that can be sparsely represented under an example-based dictionary, and an abnormal part r. Motivated by a dense error correction scheme recently proposed for sparse signal recovery, we use l1- norm minimization to separate ~y and r. We extend the existing framework, which was mainly used on robust face recognition in a discriminative setting, to address challenges of brain image analysis, particularly the high dimensionality and low sample size problem. The dictionary is constructed from local image patches extracted from training images aligned using smooth transformations, together with minor perturbations of those patches. A multi-scale sliding-window scheme is applied to capture anatomical variations ranging from fine and localized to coarser and more global. The statistical significance of the abnormality term r is obtained by comparison to its empirical distribution through cross-validation, and is used to assign an abnormality score to each voxel. In our validation experiments the method is applied for segmenting abnormalities on 2-D slices of FLAIR images, and we obtain segmentation results consistent with the expert-defined masks.
Bloem, B R; Beckley, D J; van Dijk, J G
1999-02-01
Abnormal automatic postural responses are thought to contribute to balance impairment in Parkinson's disease. However, because postural responses are modifiable by stance, we have speculated that some postural abnormalities in patients with Parkinson's disease are secondary to their stooped stance. We have studied this assumption by assessing automatic postural responses in 30 healthy subjects who were instructed either to stand upright or to assume a typical parkinsonian posture. During both conditions, subjects received 20 serial 4 degrees 'toe-up' rotational perturbations from a supporting forceplate. We recorded short-latency (SL) and medium-latency (ML) responses from stretched gastrocnemius muscles and long-latency (LL) responses from shortened tibialis anterior muscles. We also assessed changes in the center of foot pressure (CFP) and the center of gravity (COG). The results were qualitatively compared to a previously described group of patients with Parkinson's disease who, under these circumstances, typically have large ML responses, small LL responses and insufficient voluntary postural corrections, accompanied by a slow rate of backward CFP displacement and an increased posterior COG displacement. The stooped posture resulted in unloading of medial gastrocnemius muscles and loading of tibialis anterior muscles. Onset latencies of stretch responses in gastrocnemius muscles were delayed in stooped subjects, but the onset of LL responses was markedly reduced. Amplitudes of both ML and LL responses were reduced in stooped subjects. Prestimulus COG and, to a lesser extent, CFP were shifted forwards in stooped subjects. Posterior COG displacement and the rate of backward CFP displacement were diminished in stooped subjects. Voluntary postural corrections were unchanged while standing stooped. These results indicate that some postural abnormalities of patients with Parkinson's disease (most notably the reduced LL responses) can be reproduced in healthy subjects mimicking a stooped parkinsonian posture. Other postural abnormalities (most notably the increased ML responses and insufficient voluntary responses) did not appear in stooped controls and may contribute to balance impairment in Parkinson's disease.
A standardised protocol for texture feature analysis of endoscopic images in gynaecological cancer.
Neofytou, Marios S; Tanos, Vasilis; Pattichis, Marios S; Pattichis, Constantinos S; Kyriacou, Efthyvoulos C; Koutsouris, Dimitris D
2007-11-29
In the development of tissue classification methods, classifiers rely on significant differences between texture features extracted from normal and abnormal regions. Yet, significant differences can arise due to variations in the image acquisition method. For endoscopic imaging of the endometrium, we propose a standardized image acquisition protocol to eliminate significant statistical differences due to variations in: (i) the distance from the tissue (panoramic vs close up), (ii) difference in viewing angles and (iii) color correction. We investigate texture feature variability for a variety of targets encountered in clinical endoscopy. All images were captured at clinically optimum illumination and focus using 720 x 576 pixels and 24 bits color for: (i) a variety of testing targets from a color palette with a known color distribution, (ii) different viewing angles, (iv) two different distances from a calf endometrial and from a chicken cavity. Also, human images from the endometrium were captured and analysed. For texture feature analysis, three different sets were considered: (i) Statistical Features (SF), (ii) Spatial Gray Level Dependence Matrices (SGLDM), and (iii) Gray Level Difference Statistics (GLDS). All images were gamma corrected and the extracted texture feature values were compared against the texture feature values extracted from the uncorrected images. Statistical tests were applied to compare images from different viewing conditions so as to determine any significant differences. For the proposed acquisition procedure, results indicate that there is no significant difference in texture features between the panoramic and close up views and between angles. For a calibrated target image, gamma correction provided an acquired image that was a significantly better approximation to the original target image. In turn, this implies that the texture features extracted from the corrected images provided for better approximations to the original images. Within the proposed protocol, for human ROIs, we have found that there is a large number of texture features that showed significant differences between normal and abnormal endometrium. This study provides a standardized protocol for avoiding any significant texture feature differences that may arise due to variability in the acquisition procedure or the lack of color correction. After applying the protocol, we have found that significant differences in texture features will only be due to the fact that the features were extracted from different types of tissue (normal vs abnormal).
Mitchell, V; Sigala, J; Ballot, C; Jumeau, F; Barbotin, A L; Duhamel, A; Rives, N; Rigot, J M; Escalier, D; Peers, M C
2015-03-01
Although electron microscopy provides a detailed analysis of ultrastructural abnormalities, this technique is not available in all laboratories. We sought to determine whether certain characteristics of the flagellum as assessed by light microscopy were related to axonemal abnormalities. Forty-one patients with an absence of outer dynein arms (type I), a lack of a central complex (type III) and an absence of peripheral doublets (type IV) were studied. Sperm morphology was scored according to David's modified classification. Flagella with an irregular thickness were classified as being of normal length, short or broken. There were correlations between missing outer dynein arms and abnormal, short or coiled flagellum. Type III patients showed the highest flagellar defects (a short (P = 0.0027) or an absent flagellum (P = 0.011)). Just over 68% of the irregular flagella were short in Type III patients, whereas this value was only 34.5% in type I and 26.4% in type IV (P = 0.002). There was a negative correlation between misassembly and spermatozoa of irregular flagella (r = -0.79; P = 0.019). It is concluded that light microscopy analysis of flagellum abnormalities may help provide a correct diagnosis, identify sperm abnormalities with fertility potentials and outcomes in assisted reproduction technologies and assess the genetic risk. © 2014 Blackwell Verlag GmbH.
Prineas, Ronald J; Le, Anh; Soliman, Elsayed Z; Zhang, Zhu-Ming; Howard, Virginia J; Ostchega, Yechiam; Howard, George
2012-04-15
A United States national sample of 20,962 participants (57% women, 44% blacks) from the Reasons for Geographic and Racial Differences in Stroke (REGARDS) study provided general population estimates for electrocardiographic (ECG) abnormalities among black and white men and women. The participants were recruited from 2003 to 2007 by random selection from a commercially available nationwide list, with oversampling of blacks and those from the stroke belt, with a cooperation rate of 49%. The measurement of risk factors and 12-lead electrocardiograms (centrally coded using Minnesota code criteria) showed 28% had ≥1 major ECG abnormality. The prevalence of abnormalities was greater (≥35%) for those ≥65 years old, with no differences between blacks and whites. However, among men <65 years, blacks had more major abnormalities than whites, most notably for atrial fibrillation, major Q waves, and left ventricular hypertrophy. Men generally had more ECG abnormalities than women. The most common ECG abnormalities were T-wave abnormalities. The average heart rate-corrected QT interval was longer in women than in men, similar in whites and blacks, and increased with age. However, the average heart rate was greater in women than in men and in blacks than in whites and decreased with age. The prevalence of ECG abnormalities was related to the presence of hypertension, diabetes, blood pressure, and age. In conclusion, black men and women in the United States have a significantly greater prevalence of ECG abnormalities than white men and women at age 45 to 64 years; however, these proportions, although larger, tended to equalize or reverse after age 65. Copyright © 2012 Elsevier Inc. All rights reserved.
Rapid Grading of Fundus Photographs for Diabetic Retinopathy Using Crowdsourcing
Villanti, Andrea C; Pearson, Jennifer L; Kirchner, Thomas R; Gupta, Omesh P; Shah, Chirag P
2014-01-01
Background Screening for diabetic retinopathy is both effective and cost-effective, but rates of screening compliance remain suboptimal. As screening improves, new methods to deal with screening data may help reduce the human resource needs. Crowdsourcing has been used in many contexts to harness distributed human intelligence for the completion of small tasks including image categorization. Objective Our goal was to develop and validate a novel method for fundus photograph grading. Methods An interface for fundus photo classification was developed for the Amazon Mechanical Turk crowdsourcing platform. We posted 19 expert-graded images for grading by Turkers, with 10 repetitions per photo for an initial proof-of-concept (Phase I). Turkers were paid US $0.10 per image. In Phase II, one prototypical image from each of the four grading categories received 500 unique Turker interpretations. Fifty draws of 1-50 Turkers were then used to estimate the variance in accuracy derived from randomly drawn samples of increasing crowd size to determine the minimum number of Turkers needed to produce valid results. In Phase III, the interface was modified to attempt to improve Turker grading. Results Across 230 grading instances in the normal versus abnormal arm of Phase I, 187 images (81.3%) were correctly classified by Turkers. Average time to grade each image was 25 seconds, including time to review training images. With the addition of grading categories, time to grade each image increased and percentage of images graded correctly decreased. In Phase II, area under the curve (AUC) of the receiver-operator characteristic (ROC) indicated that sensitivity and specificity were maximized after 7 graders for ratings of normal versus abnormal (AUC=0.98) but was significantly reduced (AUC=0.63) when Turkers were asked to specify the level of severity. With improvements to the interface in Phase III, correctly classified images by the mean Turker grade in four-category grading increased to a maximum of 52.6% (10/19 images) from 26.3% (5/19 images). Throughout all trials, 100% sensitivity for normal versus abnormal was maintained. Conclusions With minimal training, the Amazon Mechanical Turk workforce can rapidly and correctly categorize fundus photos of diabetic patients as normal or abnormal, though further refinement of the methodology is needed to improve Turker ratings of the degree of retinopathy. Images were interpreted for a total cost of US $1.10 per eye. Crowdsourcing may offer a novel and inexpensive means to reduce the skilled grader burden and increase screening for diabetic retinopathy. PMID:25356929
Treatment of Combined Spinal Deformity in Patient with Ollier Disease and Abnormal Vertebrae
Ryabykh, S. О.; Gubin, A. V.; Prudnikova, О. G.; Kobyzev, А. Е.
2012-01-01
We report staged treatment of severe combined spinal deformity in an 11-year-old patient with Ollier disease and abnormal cervical vertebra. Combined scoliosis with systemic pathology and abnormal vertebrae is a rare condition and features atypical deformity location and rapid progression rate and frequently involves the rib cage and pelvis, disturbing the function of chest organs and skeleton. Progressive deformity resulted in cachexia and acute respiratory failure. A halo-pelvic distraction device assembled of Ilizarov components was employed for a staged surgical treatment performed for lifesaving indications. After vital functions stabilized, the scoliosis curve of the cervical spine was corrected and fixed with a hybrid system of transpedicular supporting points, connecting rods, and connectors that provided staged distraction during growth. The treatment showed good functional and cosmetic result. PMID:24436859
Abnormal results may point to: Abnormal tear production (dry eye) Blocked tear duct Corneal abrasion (a scratch on ... object in eye ) Infection Injury or trauma Severe dry eye associated with arthritis (keratoconjunctivitis sicca)
Brain serotonin and dopamine transporter bindings in adults with high-functioning autism.
Nakamura, Kazuhiko; Sekine, Yoshimoto; Ouchi, Yasuomi; Tsujii, Masatsugu; Yoshikawa, Etsuji; Futatsubashi, Masami; Tsuchiya, Kenji J; Sugihara, Genichi; Iwata, Yasuhide; Suzuki, Katsuaki; Matsuzaki, Hideo; Suda, Shiro; Sugiyama, Toshiro; Takei, Nori; Mori, Norio
2010-01-01
Autism is a neurodevelopmental disorder that is characterized by repetitive and/or obsessive interests and behavior and by deficits in sociability and communication. Although its neurobiological underpinnings are postulated to lie in abnormalities of the serotoninergic and dopaminergic systems, the details remain unknown. To determine the occurrence of changes in the binding of serotonin and dopamine transporters, which are highly selective markers for their respective neuronal systems. Using positron emission tomography, we measured the binding of brain serotonin and dopamine transporters in each individual with the radioligands carbon 11 ((11)C)-labeled trans-1,2,3,5,6,10-beta-hexahydro-6-[4-(methylthio)phenyl]pyrrolo-[2,1-a]isoquinoline ([(11)C](+)McN-5652) and 2beta-carbomethoxy-3-beta-(4-fluorophenyl)tropane ([(11)C]WIN-35,428), respectively. Statistical parametric mapping was used for between-subject analysis and within-subject correlation analysis with respect to clinical variables. Participants recruited from the community. Twenty men (age range, 18-26 years; mean [SD] IQ, 99.3 [18.1]) with autism and 20 age- and IQ-matched control subjects. Serotonin transporter binding was significantly lower throughout the brain in autistic individuals compared with controls (P < .05, corrected). Specifically, the reduction in the anterior and posterior cingulate cortices was associated with the impairment of social cognition in the autistic subjects (P < .05, corrected). A significant correlation was also found between repetitive and/or obsessive behavior and interests and the reduction of serotonin transporter binding in the thalamus (P < .05, corrected). In contrast, the dopamine transporter binding was significantly higher in the orbitofrontal cortex of the autistic group (P < .05, corrected in voxelwise analysis). In the orbitofrontal cortex, the dopamine transporter binding was significantly inversely correlated with serotonin transporter binding (r = -0.61; P = .004). The brains of autistic individuals have abnormalities in both serotonin transporter and dopamine transporter binding. The present findings indicate that the gross abnormalities in these neurotransmitter systems may underpin the neurophysiologic mechanism of autism. Our sample was not characteristic or representative of a typical sample of adults with autism in the community.
Black, Bradley Charles
2006-01-01
Purpose To evaluate the effect of refractive error management on resolution of accommodative esotropia, deterioration of accommodative esotropia, and the natural history of hypermetropia in accommodative esotropia. Methods Retrospective cohort study and nested case-control study of patients with accommodative esotropia untreated prior to diagnosis by the author. Eligibility criteria included esodeviation of ≥10 prism diopters (PD) on distance and near fixation on initial examination, hypermetropia, distance esodeviation <10 PD with full cycloplegic refraction correction on first follow-up examination, and at least 2 years of follow-up. Results The study included 285 patients with mean follow-up of 102 months. After age 7 years, mean annual decrease in hypermetropia was .24 D for patients wearing full cycloplegic refraction and for patients in whom hypermetropia was undercorrected by 1.00 D or more. Age at diagnosis (P < .0001), oblique muscle dysfunction (P < .0001), and abnormal distance-near relationship (P = .007) were associated with deterioration of accommodative esotropia. Of 51 patients with an intermittent abnormal distance-near relationship, 19 (37%) had increased hypermetropia on cycloplegic refraction, and prescription of the increased correction normalized the distance-near relationship. Conclusions The possibility that undercorrecting hypermetropia speeds its resolution is not supported by this study. Accommodative esotropia is usually stable, but younger age at diagnosis, oblique muscle dysfunction, and abnormal distance-near relationship are associated with deterioration. Undercorrection of hypermetropia can cause an abnormal distance-near relationship, which in turn can cause deterioration of accommodative esotropia. Aggressive undercorrection of hypermetropia should be pursued carefully, because the risk may outweigh the potential advantages. PMID:17471349
Kadriu, B; Gold, P W; Luckenbaugh, D A; Lener, M S; Ballard, E D; Niciu, M J; Henter, I D; Park, L T; De Sousa, R T; Yuan, P; Machado-Vieira, R; Zarate, C A
2017-05-30
Patients with major depressive disorder (MDD) have clinically relevant, significant decreases in bone mineral density (BMD). We sought to determine if predictive markers of bone inflammation-the osteoprotegerin (OPG)-RANK-RANKL system or osteopontin (OPN)-play a role in the bone abnormalities associated with MDD and, if so, whether ketamine treatment corrected the abnormalities. The OPG-RANK-RANKL system plays the principal role in determining the balance between bone resorption and bone formation. RANKL is the osteoclast differentiating factor and diminishes BMD. OPG is a decoy receptor for RANKL, thereby increasing BMD. OPN is the bone glue that acts as a scaffold between bone tissues matrix composition to bind them together and is an important component of bone strength and fracture resistance. Twenty-eight medication-free inpatients with treatment-resistant MDD and 16 healthy controls (HCs) participated in the study. Peripheral bone marker levels and their responses to IV ketamine infusion in MDD patients and HCs were measured at four time points: at baseline, and post-infusion at 230 min, Day 1, and Day 3. Patients with MDD had significant decreases in baseline OPG/RANKL ratio and in plasma OPN levels. Ketamine significantly increased both the OPG/RANKL ratio and plasma OPN levels, and significantly decreased RANKL levels. Bone marker levels in HCs remained unaltered. We conclude that the OPG-RANK-RANKL system and the OPN system play important roles in the serious bone abnormalities associated with MDD. These data suggest that, in addition to its antidepressant effects, ketamine also has a salutary effect on a major medical complication of depressive illness.Molecular Psychiatry advance online publication, 30 May 2017; doi:10.1038/mp.2017.109.
Sato, Osamu; Suzuki, Yuma; Sato, Yuki; Sasaki, Shinsuke; Sonoki, Tomonori
2015-05-01
Apple pomace is one of the major agricultural residues in Aomori prefecture, Japan, and it would be useful to develop effective applications for it. As apple pomace contains easily fermentable sugars such as glucose, fructose and sucrose, it can be used as a feedstock for the fermentation of fuels and chemicals. We previously isolated a new hydrogen-producing bacterium, Clostridium beijerinckii HU-1, which could produce H2 at a production rate of 14.5 mmol of H2/L/h in a fed-batch culture at 37 °C, pH 6.0. In this work we found that the HU-1 strain produces H2 at an approximately 20% greater rate when the fermentation medium contains the water-insoluble material from apple pomace. The water-insoluble material from apple pomace caused a metabolic shift that stimulated H2 production. HU-1 showed a decrease of lactate production, which consumes NADH, accompanied by an increase of the intracellular pyrophosphate content, which is an inhibitor of lactate dehydrogenase. The intracellular NAD(+)/NADH ratios of HU-1 during H2 fermentation were maintained in a more reductive state than those observed without the addition of the water insoluble material. To correct the abnormal intracellular redox balance, caused by the repression of lactate production, H2 production with NADH oxidation must be stimulated. Copyright © 2014 The Society for Biotechnology, Japan. Published by Elsevier B.V. All rights reserved.
Biliary Ascariasis: MR Cholangiography Findings in Two Cases
Hwang, Cheol Mok; Ha, Hyun Kwon; Kim, Pyo Nyun; Lee, Moon-Gyu
2001-01-01
We describe the imaging features of two cases of biliary ascariasis. Ultrasonography and CT showed no specific abnormal findings, but MR cholangiography clearly demonstrated an intraductal linear filling defect that led to the correct diagnosis. MR cholangiography is thus a useful technique for the diagnosis of biliary ascariasis. PMID:11752990
46 CFR 38.10-1 - Valves, fittings, and accessories-TB/ALL.
Code of Federal Regulations, 2012 CFR
2012-10-01
... outlet connection or the quick-closing valve, even in the event of abnormal displacement of the piping.... Tables shall be readily available for direct determination of volume of liquid in the tanks, with necessary corrections for trim, temperature, and density. (2) An independent high level alarm shall be...
46 CFR 38.10-1 - Valves, fittings, and accessories-TB/ALL.
Code of Federal Regulations, 2014 CFR
2014-10-01
... outlet connection or the quick-closing valve, even in the event of abnormal displacement of the piping.... Tables shall be readily available for direct determination of volume of liquid in the tanks, with necessary corrections for trim, temperature, and density. (2) An independent high level alarm shall be...
46 CFR 38.10-1 - Valves, fittings, and accessories-TB/ALL.
Code of Federal Regulations, 2010 CFR
2010-10-01
... outlet connection or the quick-closing valve, even in the event of abnormal displacement of the piping.... Tables shall be readily available for direct determination of volume of liquid in the tanks, with necessary corrections for trim, temperature, and density. (2) An independent high level alarm shall be...
46 CFR 38.10-1 - Valves, fittings, and accessories-TB/ALL.
Code of Federal Regulations, 2011 CFR
2011-10-01
... outlet connection or the quick-closing valve, even in the event of abnormal displacement of the piping.... Tables shall be readily available for direct determination of volume of liquid in the tanks, with necessary corrections for trim, temperature, and density. (2) An independent high level alarm shall be...
46 CFR 38.10-1 - Valves, fittings, and accessories-TB/ALL.
Code of Federal Regulations, 2013 CFR
2013-10-01
... outlet connection or the quick-closing valve, even in the event of abnormal displacement of the piping.... Tables shall be readily available for direct determination of volume of liquid in the tanks, with necessary corrections for trim, temperature, and density. (2) An independent high level alarm shall be...
Increased folding and channel activity of a rare cystic fibrosis mutant with CFTR modulators
Grove, Diane E.; Houck, Scott A.
2011-01-01
Cystic fibrosis (CF) is a lethal recessive genetic disease caused by mutations in the CFTR gene. The gene product is a PKA-regulated anion channel that is important for fluid and electrolyte transport in the epithelia of lung, gut, and ducts of the pancreas and sweat glands. The most common CFTR mutation, ΔF508, causes a severe, but correctable, folding defect and gating abnormality, resulting in negligible CFTR function and disease. There are also a large number of rare CF-related mutations where disease is caused by CFTR misfolding. Yet the extent to which defective biogenesis of these CFTR mutants can be corrected is not clear. CFTRV232D is one such mutant that exhibits defective folding and trafficking. CFTRΔF508 misfolding is difficult to correct, but defective biogenesis of CFTRV232D is corrected to near wild-type levels by small-molecule folding correctors in development as CF therapeutics. To determine if CFTRV232D protein is competent as a Cl− channel, we utilized single-channel recordings from transfected human embryonic kidney (HEK-293) cells. After PKA stimulation, CFTRV232D channels were detected in patches with a unitary Cl− conductance indistinguishable from that of CFTR. Yet the frequency of detecting CFTRV232D channels was reduced to ∼20% of patches compared with 60% for CFTR. The folding corrector Corr-4a increased the CFTRV232D channel detection rate and activity to levels similar to CFTR. CFTRV232D-corrected channels were inhibited with CFTRinh-172 and stimulated fourfold by the CFTR channel potentiator VRT-532. These data suggest that CF patients with rare mutations that cause CFTR misfolding, such as CFTRV232D, may benefit from treatment with folding correctors and channel potentiators in development to restore CFTRΔF508 function. PMID:21642448
Twenty-Five Years of Gene Therapy for ADA-SCID: From Bubble Babies to an Approved Drug.
Ferrua, Francesca; Aiuti, Alessandro
2017-11-01
Twenty-five years have passed since first attempts of gene therapy (GT) in children affected by severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) defect, also known by the general public as bubble babies. ADA-SCID is fatal early in life if untreated. Unconditioned hematopoietic stem cell (HSC) transplant from matched sibling donor represents a curative treatment but is available for few patients. Enzyme replacement therapy can be life-saving, but its chronic use has many drawbacks. This review summarizes the history of ADA-SCID GT over the last 25 years, starting from first pioneering studies in the early 1990s using gamma-retroviral vectors, based on multiple infusions of genetically corrected autologous peripheral blood lymphocytes. HSC represented the ideal target for gene correction to guarantee production of engineered multi-lineage progeny, but it required a decade to achieve therapeutic benefit with this approach. Introduction of low-intensity conditioning represented a crucial step in achieving stable gene-corrected HSC engraftment and therapeutic levels of ADA-expressing cells. Recent clinical trials demonstrated that gamma-retroviral GT for ADA-SCID has a favorable safety profile and is effective in restoring normal purine metabolism and immune functions in patients >13 years after treatment. No abnormal clonal proliferation or leukemia development have been observed in >40 patients treated experimentally in five different centers worldwide. In 2016, the medicinal product Strimvelis™ received marketing approval in Europe for patients affected by ADA-SCID without a suitable human leukocyte antigen-matched related donor. Positive safety and efficacy results have been obtained in GT clinical trials using lentiviral vectors encoding ADA. The results obtained in last 25 years in ADA-SCID GT development fundamentally contributed to improve patients' prognosis, together with earlier diagnosis thanks to newborn screening. These advances open the way to further clinical development of GT as treatment for broader applications, from inherited diseases to cancer.
Improvement of the quality of work in a biochemistry laboratory via measurement system analysis.
Chen, Ming-Shu; Liao, Chen-Mao; Wu, Ming-Hsun; Lin, Chih-Ming
2016-10-31
An adequate and continuous monitoring of operational variations can effectively reduce the uncertainty and enhance the quality of laboratory reports. This study applied the evaluation rule of the measurement system analysis (MSA) method to estimate the quality of work conducted in a biochemistry laboratory. Using the gauge repeatability & reproducibility (GR&R) approach, variations in quality control (QC) data among medical technicians in conducting measurements of five biochemical items, namely, serum glucose (GLU), aspartate aminotransferase (AST), uric acid (UA), sodium (Na) and chloride (Cl), were evaluated. The measurements of the five biochemical items showed different levels of variance among the different technicians, with the variances in GLU measurements being higher than those for the other four items. The ratios of precision-to-tolerance (P/T) for Na, Cl and GLU were all above 0.5, implying inadequate gauge capability. The product variation contribution of Na was large (75.45% and 31.24% in normal and abnormal QC levels, respectively), which showed that the impact of insufficient usage of reagents could not be excluded. With regard to reproducibility, high contributions (of more than 30%) of variation for the selected items were found. These high operator variation levels implied that the possibility of inadequate gauge capacity could not be excluded. The analysis of variance (ANOVA) of GR&R showed that the operator variations in GLU measurements were significant (F=5.296, P=0.001 in the normal level and F=3.399, P=0.015 in the abnormal level, respectively). In addition to operator variations, product variations of Na were also significant for both QC levels. The heterogeneity of variance for the five technicians showed significant differences for the Na and Cl measurements in the normal QC level. The accuracy of QC for five technicians was identified for further operational improvement. This study revealed that MSA can be used to evaluate product and personnel errors and to improve the quality of work in a biochemical laboratory through proper corrective actions.
16 CFR 1209.37 - Corrective actions.
Code of Federal Regulations, 2010 CFR
2010-01-01
... Commercial Practices CONSUMER PRODUCT SAFETY COMMISSION CONSUMER PRODUCT SAFETY ACT REGULATIONS INTERIM SAFETY STANDARD FOR CELLULOSE INSULATION Certification § 1209.37 Corrective actions. (a) Test failure... insulation product itself. Corrective action may consist of equipment adjustment, equipment repair, equipment...
Chromosomal abnormalities, meiotic behavior and fertility in domestic animals.
Villagómez, D A F; Pinton, A
2008-01-01
Since the advent of the surface microspreading technique for synaptonemal complex analysis, increasing interest in describing the synapsis patterns of chromosome abnormalities associated with fertility of domestic animals has been noticed during the past three decades. In spite of the number of scientific reports describing the occurrence of structural chromosome abnormalities, their meiotic behavior and gametic products, little is known in domestic animal species about the functional effects of such chromosome aberrations in the germ cell line of carriers. However, some interesting facts gained from recent and previous studies on the meiotic behavior of chromosome abnormalities of domestic animals permit us to discuss, in the frame of recent knowledge emerging from mouse and human investigations, the possible mechanism implicated in the well known association between meiotic disruption and chromosome pairing failure. New cytogenetic techniques, based on molecular and immunofluorescent analyses, are allowing a better description of meiotic processes, including gamete production. The present communication reviews the knowledge of the meiotic consequences of chromosome abnormalities in domestic animals. Copyright 2008 S. Karger AG, Basel.
Diagnosis of vasculogenic impotence: Combination of penile xenon-133 washout and papaverine tests
DOE Office of Scientific and Technical Information (OSTI.GOV)
Lin, S.N.; Liu, R.S.; Yu, P.C.
1989-07-01
The present study evaluates both penile xenon-133 washout (XWT) and papaverine tests (PT) in the diagnosis of vasculogenic impotence. XWT was accomplished by subcutaneous injection of xenon-133 (1-2 mCi in 0.1 mL saline solution) into the dorsal coronal prepuce. Abnormal XWT was suggested in patients whose clearance time (T1/2) was longer than 7.5 minutes and whose penile blood flow rate (Q) was less than 6 mL/100 g tissue/min. PT was done by intracavernous injection of papaverine (60 mg in 20 mL normal saline). Abnormal PT was indicated in patients whose onset of full erection was more than ten minutes aftermore » papaverine injection and whose duration of erection was less than one hour. Ten young and 11 older normal volunteers were examined with XWT only; all showed normal results. A total of 60 impotent patients were examined with both XWT and PT and were classified into four groups: in 2 patients (3.3%) both XWT and PT were normal (group I); in 8 (13.3%) XWT was abnormal and PT normal (group II); in 14 (23.3%) XWT was normal and PT abnormal (group III); and in 36 (60%) both XWT and PT were abnormal (group IV). On further examination with bilateral hypogastric arteriography in 10 XWT-abnormal patients and on surgical correction of abnormal curvature in 5 XWT-abnormal patients, all (100%) were proved to have penile arterial insufficiency. Erection cavernosography performed in 15 PT-abnormal patients confirmed penile venous insufficiency in 80 percent. We conclude both XWT and PT are simple and effective for evaluation of the penile arterial blood flow and venous competence, respectively.« less
Marcus, Inna; Tung, Irene T; Dosunmu, Eniolami O; Thiamthat, Warakorn; Freedman, Sharon F
2013-12-01
To compare anterior segment findings identified in young children using digital photographic images from the Lytro light field camera to those observed clinically. This was a prospective study of children <9 years of age with an anterior segment abnormality. Clinically observed anterior segment examination findings for each child were recorded and several digital images of the anterior segment of each eye captured with the Lytro camera. The images were later reviewed by a masked examiner. Sensitivity of abnormal examination findings on Lytro imaging was calculated and compared to the clinical examination as the gold standard. A total of 157 eyes of 80 children (mean age, 4.4 years; range, 0.1-8.9) were included. Clinical examination revealed 206 anterior segment abnormalities altogether: lids/lashes (n = 21 eyes), conjunctiva/sclera (n = 28 eyes), cornea (n = 71 eyes), anterior chamber (n = 14 eyes), iris (n = 43 eyes), and lens (n = 29 eyes). Review of Lytro photographs of eyes with clinically diagnosed anterior segment abnormality correctly identified 133 of 206 (65%) of all abnormalities. Additionally, 185 abnormalities in 50 children were documented at examination under anesthesia. The Lytro camera was able to document most abnormal anterior segment findings in un-sedated young children. Its unique ability to allow focus change after image capture is a significant improvement on prior technology. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.
Testa, Francesco; Melillo, Paolo; Rossi, Settimio; Marcelli, Vincenzo; de Benedictis, Antonella; Colucci, Raffaella; Gallo, Beatrice; Brunetti-Pierri, Raffaella; Donati, Simone; Azzolini, Claudio; Marciano, Elio; Simonelli, Francesca
2018-01-01
To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH). Macular abnormalities were observed in 126/268 (47.0%) examined eyes. The most frequent abnormality was ERM observed in 51 eyes (19%), followed by CME observed in 42 eyes (15.7%). Moreover, CME was significantly (p < 0.05) associated with younger age (CME: 30.1 ± 11.1 years; without CME: 36.9 ± 14.9 years), whereas VMT and full thickness MH were associated with older age (p < 0.05). Moreover, a significantly (p < 0.05) decreased best-corrected visual acuity was associated with MH compared to eyes without MH. Finally, CME was more frequent in USH1 compared to USH2. Our study, for the first time in the literature, showed the distribution of all macular abnormalities assessed by SD-OCT in a large USH cohort, comparing USH1 and USH2 patients. We observed that ocular abnormalities are highly prevalent in USH patients compared to general population, with ERM and CME being the most common alterations. Based on these findings, OCT screening in USH patients is recommended for early detection of macular changes and early treatment.
Transepithelial nasal potential difference (NPD) measurements in cystic fibrosis (CF).
Sands, Dorota
2013-01-01
The main underlying physiologic abnormality in cystic fibrosis (CF) is dysfunction of the CF transmembrane conductance regulator (CFTR), which results in abnormal transport of sodium and chloride across epithelial surfaces. CFTR function could be tested in vivo using measurements of nasal transepithelial potential difference (PD). Nasal measurements show characteristic features of CF epithelia, including hyperpolarized baseline readings (basal PD), excessive depolarization in response to sodium channel inhibitors, such as amiloride (ΔAmiloride), and little or no chloride (Cl-) secretion in response to isoproterenol in a chloride-free solution (ΔCl- free-isoproterenol). PD test is applied for CF diagnosis and monitoring of new therapeutic modulations and corrections.
Lobar holoprosencephaly in a Miniature Schnauzer with hypodipsic hypernatremia.
Sullivan, Stacey A; Harmon, Barry G; Purinton, P Thomas; Greene, Craig E; Glerum, Leigh E
2003-12-15
A 9-month-old male Miniature Schnauzer was examined because of a lifelong history of behavioral abnormalities, including hypodipsia. Diagnostic evaluation revealed marked hypernatremia and a single forebrain ventricle. The behavioral abnormalities did not resolve with correction of the hypernatremia, and the dog was euthanatized. At necropsy, midline forebrain structures were absent or reduced in size, and normally paired forebrain structures were incompletely separated. Findings were diagnostic for holoprosencephaly, a potentially genetic disorder and the likely cause of the hypodipsia. Similar evaluation of affected Miniature Schnauzer dogs may reveal whether holoprosencephaly routinely underlies the thirst deficiency that may be seen in dogs of this breed.
The problem of chondromalacia patellae.
Outerbridge, R E; Dunlop, J A
1975-01-01
Daily activity subjects the human patella to forces often several times the individual's body weight. Healthy cartilage can adjust to these forces if they are not too excessive, concentrated, or repetitive. Such abnormal stresses most frequently occur with the disturbance of normal patellar mechanical function. Chondromalacia patellae is the result common to a wide variety of unusual traumata. Treatment must be directed primarily not toward the damaged patellar cartilage but toward a correction of the mechanical abnormality causing it. Until proven otherwise, a young female complaining of knee joint pain, particularly if bilateral, should be considered as suffering from a subluxating patella, with or without chondromalacia patellae.
SURGICAL CORRECTION OF BILATERAL PATELLAR LUXATION IN AN AMERICAN BLACK BEAR CUB (URSUS AMERICANUS).
Bennett, Katarina R; Desmarchelier, Marion R; Bailey, Trina R
2015-06-01
A wild orphaned male American black bear cub ( Ursus americanus ) presented with hind limb gait abnormalities and was found to have bilateral grade 3 laterally luxating patellas. There were no other significant abnormalities detected on neurologic, radiographic, or hematologic examinations. The trochlear grooves were deepened with a chondroplasty, and the redundant soft tissues imbricated. There was a marked improvement in the bear's gait postoperatively, with an apparent full return to function. To the authors' knowledge, patellar luxation has not been reported in the Ursidae family, and the success in this case suggests that this technique may be used in large wild or captive carnivore cubs.
Inappropriate ICD discharges due to "triple counting" during normal sinus rhythm.
Khan, Ejaz; Voudouris, Apostolos; Shorofsky, Stephen R; Peters, Robert W
2006-11-01
To describe the clinical course of a patient with multiple ICD shocks in the setting of advanced renal failure and hyperkalemia. The patient was brought to the Electrophysiology Laboratory where the ICD was interrogated. The patient was found to be hyperkalemic (serum potassium 7.6 mg/dl). Analysis of stored intracardiac electrograms from the ICD revealed "triple counting" (twice during his QRS complex and once during the T wave) and multiple inappropriate shocks. Correction of his electrolyte abnormality normalized his electrogram and no further ICD activations were observed. Electrolyte abnormalities can distort the intracardiac electrogram in patients with ICD's and these changes can lead to multiple inappropriate shocks.
Nerve Entrapment Syndromes at the Wrist and Elbow by Sonography.
Klauser, Andrea S; Buzzegoli, Tommaso; Taljanovic, Mihra S; Strobl, Sylvia; Rauch, Stefan; Teh, James; Wanschitz, Julia; Löscher, Wolfgang; Martinoli, Carlo
2018-07-01
Nerve entrapment syndromes of the upper extremity are associated with structural abnormalities or by an intrinsic abnormality of the nerve. Nerve entrapment syndromes generally have a typical clinical presentation, and findings on physical examination and in conjunction with electrodiagnostic studies imaging is used to evaluate the cause, severity, and etiology of the entrapment. With the development of high-frequency linear array transducers (12-24 MHz), ultrasound (US) is incomparable in terms of spatial resolution to depict morphological aspects and changes in nerves. US can identify the abnormalities causing entrapment, such as fibrous bands, ganglia, anomalous muscles, and osseous deformities, with the advantage of dynamic assessment under active and passive examination. US is a unique diagnostic modality that allows superb visualization of both large and small peripheral terminal nerve branches of the upper extremity and enables the correct diagnosis of various nerve entrapment syndromes. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Khush, Kiran K.; Menza, Rebecca; Nguyen, John; Goldstein, Benjamin A.; Zaroff, Jonathan G.; Drew, Barbara J.
2012-01-01
Background Current regulations require that all cardiac allograft offers for transplantation must include an interpreted 12-lead electrocardiogram (ECG). However, little is known about the expected ECG findings in potential organ donors, or the clinical significance of any identified abnormalities in terms of cardiac allograft function and suitability for transplantation. Methods and Results A single experienced reviewer interpreted the first ECG obtained after brainstem herniation in 980 potential organ donors managed by the California Transplant Donor Network from 2002-2007. ECG abnormalities were summarized, and associations between specific ECG findings and cardiac allograft utilization for transplantation were studied. ECG abnormalities were present in 51% of all cases reviewed. The most common abnormalities included voltage criteria for left ventricular hypertrophy (LVH), prolongation of the corrected QT interval (QTc), and repolarization changes (ST/T wave abnormalities). Fifty seven percent of potential cardiac allografts in this cohort were accepted for transplantation. LVH on ECG was a strong predictor of allograft non-utilization. No significant associations were seen between QTc prolongation, repolarization changes and allograft utilization for transplantation, after adjusting for donor clinical variables and echocardiographic findings. Conclusions We have performed the first comprehensive study of ECG findings in potential donors for cardiac transplantation. Many of the common ECG abnormalities seen in organ donors may result from the heightened state of sympathetic activation that occurs after brainstem herniation, and are not associated with allograft utilization for transplantation. PMID:22615333
Logrono, R; Wong, J Y
1999-09-01
Inmates are generally considered a high-risk population for gynecologic neoplasia and sexually transmitted diseases. Cervical smears from prisoners of the Texas Department of Corrections (TDC) were expected initially to have higher rates of cellular abnormalities and infectious agents than do smears from the general population. The cytologic findings from 25,522 TDC gynecologic smears were compared with those of 6883 cases from The University of Texas Medical Branch (UTMB) affiliated physician private clinics, and with 56,178 from the UTMB hospital clinics. The period of study was from September 1995 to February 1998. This study revealed a 5.23% higher rate of abnormalities for TDC gynecologic smears as compared with that for the private clinic smears. However, the TDC rate of abnormalities was unexpectedly 1.08% lower than that for the UTMB clinic smears. These unexpected findings were probably the result of a more selected high-risk population referred to the UTMB clinics. The TDC smears showed also the highest incidence of trichomoniasis.
Mathematical modeling of human brain physiological data
NASA Astrophysics Data System (ADS)
Böhm, Matthias; Faltermeier, Rupert; Brawanski, Alexander; Lang, Elmar W.
2013-12-01
Recently, a mathematical model of the basic physiological processes regulating the cerebral perfusion and oxygen supply was introduced [Jung , J. Math. Biol.JMBLAJ0303-681210.1007/s00285-005-0343-5 51, 491 (2005)]. Although this model correctly describes the interdependence of arterial blood pressure (ABP) and intracranial pressure (ICP), it fails badly when it comes to explaining certain abnormal correlations seen in about 80% of the recordings of ABP together with ICP and the partial oxygen pressure (TiPO2) of the neuronal tissue, taken at an intensive care unit during neuromonitoring of patients with a severe brain trauma. Such recordings occasionally show segments, where the mean arterial blood pressure is correlated with the partial oxygen pressure in tissue but anticorrelated with the intracranial pressure. The origin of such abnormal correlations has not been fully understood yet. Here, two extensions to the previous approach are proposed which can reproduce such abnormal correlations in simulations quantitatively. Furthermore, as the simulations are based on a mathematical model, additional insight into the physiological mechanisms from which such abnormal correlations originate can be gained.
[Liver enzyme abnormalities among oil refinery workers].
Carvalho, Fernando Martins; Silvany Neto, Annibal Muniz; Mendes, João Luiz Barberino; Cotrim, Helma Pinchemel; Nascimento, Ana Lísia Cunha; Lima Júnior, Alberto Soares; Cunha, Tatiana Oliveira Bernardo da
2006-02-01
Occupational exposure typical of an oil refinery may alter liver function among the workers. Thus, the objective of the study was to identify risk factors for liver enzyme abnormalities among oil refinery workers. The workers at an oil refinery in Northeastern Brazil underwent routine annual medical examination from 1982 to 1998. This case-control study investigated all the 150 cases of individuals with simultaneous gamma-glutamyltransferase and alanine aminotransferase abnormalities of at least 10% above reference levels. As controls, 150 workers without any liver enzyme or bilirubin abnormalities since starting to work there were selected. Odds ratios and the respective 95% confidence intervals were calculated from logistic regression models. In all the production sectors, the risk of liver enzyme abnormalities was significantly higher than in the administrative sector (OR=5.7; 95% CI: 1.7-18.4), even when the effects of alcohol, obesity and medical history of hepatitis were controlled for. During the period from 1992 to 1994, 88 out of the 89 cases occurred among workers from the various production sectors. Occupational exposure plays an important role in causing liver enzyme abnormalities among oil refinery workers. This is in addition to the specifically biological and/or behavioral risk factors such as obesity and alcohol consumption.
Effect of Amblyopia Treatment on Macular Thickness in Eyes With Myopic Anisometropic Amblyopia.
Pang, Yi; Frantz, Kelly A; Block, Sandra; Goodfellow, Geoffrey W; Allison, Christine
2015-04-01
To determine whether abnormal macular thickness in myopic anisometropic amblyopia differed after amblyopia treatment. Furthermore, to investigate whether effect of treatment on macular thickness was associated with subject age or improvement in stereoacuity. Seventeen children (mean age: 9.0 [±3.0] years, ranging from 5.7-13.9 years) with myopic anisometropic amblyopia (visual acuity [VA] in amblyopic eyes: 20/80-20/400) were recruited and treated with 16-week refractive correction, followed by an additional 16-week refractive correction and patching. Macular thickness, best-corrected VA, and stereoacuity were measured both before and after amblyopia treatment. Factorial repeated-measures analysis of variance was performed to determine whether macular thickness in amblyopic eyes changed after amblyopia treatment. Mean baseline VA in the amblyopic eye was 1.0 ± 0.3 logMAR and improved to 0.7 ± 0.3 after amblyopia treatment (P < 0.0001). The interaction between eye and amblyopia treatment was statistically significant for average foveal thickness (P = 0.040). There was no treatment effect on fellow eyes (P = 0.245); however, the average foveal thickness in the amblyopic eye was significantly reduced after amblyopia treatment (P = 0.049). No statistically significant interactions were found for the other macular thickness parameters (P > 0.05). Abnormal central macula associated with myopic anisometropic amblyopia tended to be thinner following amblyopia treatment with no significant changes in peripheral macular thickness.
Cervical Cancer as a silent killer: A rare case report with review of literature.
Pandey, Deeksha; Shetty, Jyothi; Sambhaji, Charudatt; Saxena, P U; Mishra, Dilip; Chawla, Arun
2015-01-01
Advanced-stage cervical cancer almost always presents either with abnormal vaginal bleeding or with foul-smelling vaginal discharge. We present here a rare case, where a postmenopausal lady presented almost silently with stage IVA cervical cancer. Fortunately, timely referral, correct diagnosis, and multispecialty team work could save her life.
ERIC Educational Resources Information Center
O'Connell, Redmond G.; Bellgrove, Mark A.; Dockree, Paul M.; Lau, Adam; Hester, Robert; Garavan, Hugh; Fitzgerald, Michael; Foxe, John J.; Robertson, Ian H.
2009-01-01
The ability to detect and correct errors is critical to adaptive control of behaviour and represents a discrete neuropsychological function. A number of studies have highlighted that attention-deficit hyperactivity disorder (ADHD) is associated with abnormalities in behavioural and neural responsiveness to performance errors. One limitation of…
A Correction for Recruitment Bias in Norms Derived from Meta-Analysis
ERIC Educational Resources Information Center
Williams, J. Michael; Cottle, Cindy C.
2011-01-01
Normative comparisons are an integral component of neuropsychological test interpretation and provide the basis for an inference of abnormal function and impairment. In order to remedy a deficit of normative standards for a large number of neuropsychology tests, Mitrushina, Boone, Razani, and D'Elia (2005) used the meta-analysis of studies that…
The Effects of Two Types of Exposure on Attitudes toward Aspects of Juvenile Delinquency.
ERIC Educational Resources Information Center
LeUnes, Arnold; And Others
1996-01-01
Tracks the attitude changes of a group of abnormal psychology students following a tour of a juvenile correctional facility and a presentation by four of the inmates. A 25-item semantic differential scale revealed a noticeable improvement in the students' attitudes towards juvenile delinquents after the visit. (MJP)
ERIC Educational Resources Information Center
Kumazaki, Hirokazu; Kikuchi, Mitsuru; Yoshimura, Yuko; Miyao, Masutomo; Okada, Ken-ichi; Mimura, Masaru; Minabe, Yoshio
2018-01-01
Understanding the nature of olfactory abnormalities is crucial for optimal interventions in children with autism spectrum disorders (ASD). However, previous studies that have investigated odor identification in children with ASD have produced inconsistent results. The ability to correctly identify an odor relies heavily on visual inputs in the…
Automated scoring system of standard uptake value for torso FDG-PET images
NASA Astrophysics Data System (ADS)
Hara, Takeshi; Kobayashi, Tatsunori; Kawai, Kazunao; Zhou, Xiangrong; Itoh, Satoshi; Katafuchi, Tetsuro; Fujita, Hiroshi
2008-03-01
The purpose of this work was to develop an automated method to calculate the score of SUV for torso region on FDG-PET scans. The three dimensional distributions for the mean and the standard deviation values of SUV were stored in each volume to score the SUV in corresponding pixel position within unknown scans. The modeling methods is based on SPM approach using correction technique of Euler characteristic and Resel (Resolution element). We employed 197 nor-mal cases (male: 143, female: 54) to assemble the normal metabolism distribution of FDG. The physique were registered each other in a rectangular parallelepiped shape using affine transformation and Thin-Plate-Spline technique. The regions of the three organs were determined based on semi-automated procedure. Seventy-three abnormal spots were used to estimate the effectiveness of the scoring methods. As a result, the score images correctly represented that the scores for normal cases were between zeros to plus/minus 2 SD. Most of the scores of abnormal spots associated with cancer were lager than the upper of the SUV interval of normal organs.
Warfarin hypersensitivity due to gluten-sensitive enteropathy: a case study.
Kwolek, Sara; Deming, Paula
2012-01-01
A 53 year old female who was maintained on long-term warfarin therapy due to history of pulmonary embolism, repeatedly presents with an abnormally prolonged Prothrombin Time (PT) and Activated Partial Thromboplastin Time (APTT). After many asymptomatic episodes were corrected with Vitamin K therapy to temporarily reverse the effects of the warfarin, the cause of the apparent coagulopathy was further investigated. Factor Activity Assays of the common pathway factors II, IX, and X all revealed critically low values; below the threshold even a loading dose of warfarin is typically capable of eliciting. The patient tested strongly positive for Tissue Transglutaminase IgA, which is highly suggestive of a gluten-sensitive enteropathy. One effect of this condition is malabsorption due to flattened intestinal villi. The patient was determined to have an acquired vitamin K deficiency secondary to gluten-sensitive enteropathy. Her condition was exacerbated by the long-term warfarin therapy, resulting in the prolonged PT and PTT. The patient was treated with vitamin K therapy, which reversed the deficiency and corrected her abnormal coagulation results.
Endobronchial Ultrasound: Clinical Uses and Professional Reimbursements.
Gildea, Thomas R; Nicolacakis, Katina
2016-12-01
Endobronchial ultrasonography (EBUS) has become an invaluable tool in the diagnosis of patients with a variety of thoracic abnormalities. The majority of EBUS procedures are used to diagnose and stage mediastinal and hilar abnormalities, as well as peripheral pulmonary targets, with a probe-based technology. Nearly 1,000 articles have been written about its use and utility. New Current Procedural Terminology (CPT) codes have been introduced in 2016 to better capture the work and clinical use associated with the various types of EBUS procedures. The existing 31620 code has been deleted and replaced by three new codes: 31652, 31653, and 31654. These new codes have been through the valuation process, and the new rule for reimbursement has been active since January 1, 2016 with National Correct Coding Initiative correction as of April 1, 2016. The impact of these new codes will result in a net reduction in professional and technical reimbursement. This article describes the current use of EBUS and explains the current codes and professional reimbursement. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.
Cortex and amygdala morphology in psychopathy.
Boccardi, Marina; Frisoni, Giovanni B; Hare, Robert D; Cavedo, Enrica; Najt, Pablo; Pievani, Michela; Rasser, Paul E; Laakso, Mikko P; Aronen, Hannu J; Repo-Tiihonen, Eila; Vaurio, Olli; Thompson, Paul M; Tiihonen, Jari
2011-08-30
Psychopathy is characterized by abnormal emotional processes, but only recent neuroimaging studies have investigated its cerebral correlates. The study aim was to map local differences of cortical and amygdalar morphology. Cortical pattern matching and radial distance mapping techniques were used to analyze the magnetic resonance images of 26 violent male offenders (age: 32±8) with psychopathy diagnosed using the Psychopathy Checklist-Revised (PCL-R) and no schizophrenia spectrum disorders, and in matched controls (age: 35± sp="0.12"/>11). The cortex displayed up to 20% reduction in the orbitofrontal and midline structures (corrected p<0.001 bilaterally). Up to 30% tissue reduction in the basolateral nucleus, and 10-30% enlargement effects in the central and lateral nuclei indicated abnormal structure of the amygdala (corrected p=0.05 on the right; and symmetrical pattern on the left). Psychopathy features specific morphology of the main cerebral structures involved in cognitive and emotional processing, consistent with clinical and functional data, and with a hypothesis of an alternative evolutionary brain development. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
NASA Astrophysics Data System (ADS)
Balthazar, Vincent; Vanacker, Veerle; Lambin, Eric F.
2012-08-01
A topographic correction of optical remote sensing data is necessary to improve the quality of quantitative forest cover change analyses in mountainous terrain. The implementation of semi-empirical correction methods requires the calibration of model parameters that are empirically defined. This study develops a method to improve the performance of topographic corrections for forest cover change detection in mountainous terrain through an iterative tuning method of model parameters based on a systematic evaluation of the performance of the correction. The latter was based on: (i) the general matching of reflectances between sunlit and shaded slopes and (ii) the occurrence of abnormal reflectance values, qualified as statistical outliers, in very low illuminated areas. The method was tested on Landsat ETM+ data for rough (Ecuadorian Andes) and very rough mountainous terrain (Bhutan Himalayas). Compared to a reference level (no topographic correction), the ATCOR3 semi-empirical correction method resulted in a considerable reduction of dissimilarities between reflectance values of forested sites in different topographic orientations. Our results indicate that optimal parameter combinations are depending on the site, sun elevation and azimuth and spectral conditions. We demonstrate that the results of relatively simple topographic correction methods can be greatly improved through a feedback loop between parameter tuning and evaluation of the performance of the correction model.
Code of Federal Regulations, 2010 CFR
2010-07-01
... reporters correct erroneous report data? Production data and royalty data must be edited to ensure that what... correction functions for production reports or royalty reports, or both, you must perform at least the... whether production reports are missing; (c) Contacting production reporters or royalty reporters about...
Meloni, Luigi; Abbruzzese, Piero A.; Pirisi, Raimondo; Cherchi, Angelo
1997-01-01
We describe a case of a 50-year-old woman with congenitally corrected transposition of the great vessels, in whom severe left-sided tricuspid (systemic atrioventricular) valve insufficiency was the only associated anomaly. The tricuspid valve was dysplastic and abnormally oriented toward the interventricular septum, without the downward displacement of Ebstein's anomaly. The mechanism of atrioventricular regurgitation was unusual in that it consisted of the rupture of chordae tendineae of both the anterior and septal leaflets. The left-sided tricuspid valve was replaced with a St. Jude prosthesis and the postoperative course was uneventful.
Reiman, Eric M.; Quiroz, Yakeel T.; Fleisher, Adam S.; Chen, Kewei; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Fagan, Anne M.; Shah, Aarti R.; Alvarez, Sergio; Arbelaez, Andrés; Giraldo, Margarita; Acosta-Baena, Natalia; Sperling, Reisa A.; Dickerson, Brad; Stern, Chantal E.; Tirado, Victoria; Munoz, Claudia; Reiman, Rebecca A.; Huentelman, Matthew J.; Alexander, Gene E.; Langbaum, Jessica B.S.; Kosik, Kenneth S.; Tariot, Pierre N.; Lopera, Francisco
2013-01-01
Summary Background We previously detected functional brain imaging abnormalities in young adults at genetic risk for late-onset Alzheimer’s disease (AD). Here, we sought to characterize structural and functional magnetic resonance imaging (MRI), cerebrospinal fluid (CSF), and plasma biomarker abnormalities in young adults at risk for autosomal dominant early-onset AD. Biomarker measurements were characterized and compared in presenilin 1 (PSEN1) E280A mutation carriers and non-carriers from the world’s largest known autosomal dominant early-onset AD kindred, more than two decades before the carriers’ estimated median age of 44 at the onset of mild cognitive impairment (MCI) and before their estimated age of 28 at the onset of amyloid-β (Aβ) plaque deposition. Methods Biomarker data for this cross-sectional study were acquired in Antioquia, Colombia between July and August, 2010. Forty-four participants from the Colombian Alzheimer’s Prevention Initiative (API) Registry had structural MRIs, functional MRIs during associative memory encoding/novel viewing and control tasks, and cognitive assessments. They included 20 mutation carriers and 24 non-carriers, who were cognitively normal, 18-26 years old and matched for their gender, age, and educational level. Twenty of the participants, including 10 mutation carriers and 10 non-carriers, had lumbar punctures and venipunctures. Primary outcome measures included task-dependent hippocampal/parahippocampal activations and precuneus/posterior cingulate deactivations, regional gray matter reductions, CSF Aβ1-42, total tau and phospho-tau181 levels, and plasma Aβ1-42 levels and Aβ1-42/Aβ1-40 ratios. Structural and functional MRI data were compared using automated brain mapping algorithms and AD-related search regions. Cognitive and fluid biomarkers were compared using Mann-Whitney tests. Findings The mutation carrier and non-carrier groups did not differ significantly in their dementia ratings, neuropsychological test scores, or proportion of apolipoprotein E (APOE) ε4 carriers. Compared to the non-carriers, carriers had higher CSF Aβ1-42 levels (p=0·008), plasma Aβ1-42 levels (p=0·01), and plasma Aβ1-42/Aβ1-40 ratios (p=0·001), consistent with Aβ1-42 overproduction. They also had greater hippocampal/parahippocampal activations (as low as p=0·008, after correction for multiple comparisons), less precuneus/posterior cingulate deactivations (as low as p=0·001, after correction), less gray matter in several regions (p-values <0·005, uncorrected, and corrected p=0·008 in the parietal search region), similar to findings in the later preclinical and clinical stages of autosomal dominant and late-onset AD. Interpretation Young adults at genetic risk for autosomal dominant AD have functional and structural MRI abnormalities, along with CSF and plasma biomarker findings consistent with Aβ1-42 over-production. While the extent to which the underlying brain changes are progressive or developmental remain to be determined, this study demonstrates the earliest known biomarker changes in cognitively normal people at genetic risk for autosomal dominant AD. Funding Banner Alzheimer’s Foundation, Nomis Foundation, Anonymous Foundation, Forget Me Not Initiative, Boston University Department of Psychology, Colciencias (1115-408-20512, 1115-545-31651), National Institute on Aging (R01 AG031581, P30 AG19610, UO1 AG024904, RO1 AG025526, RF1AG041705), National Institute of Neurological Disorders and Stroke (F31-NS078786) and state of Arizona. PMID:23137948
ERIC Educational Resources Information Center
Thorne, John C.
2017-01-01
Purpose: The purpose of this study was to examine (a) whether increased grammatical error rates during a standardized narrative task are a more clinically useful marker of central nervous system abnormality in Fetal Alcohol Spectrum Disorders (FASD) than common measures of productivity or grammatical complexity and (b) whether combining the rate…
Wei, Shengnan; Geng, Haiyang; Jiang, Xiaowei; Zhou, Qian; Chang, Miao; Zhou, Yifang; Xu, Ke; Tang, Yanqing; Wang, Fei
2017-02-22
Bipolar disorder (BD) is one of the most complex mental illnesses, characterized by interactive depressive and manic states that are 2 contrary symptoms of disease states. The bilateral amygdala and prefrontal cortex (PFC) appear to play critical roles in BD; however, abnormalities seem to manifest differently in the 2 states and may provide further insight into underlying mechanisms. Sixteen participants with first-episode depressive and 13 participants with first-episode manic states of bipolar disorder as well as 30 healthy control (HC) participants underwent resting-state functional magnetic resonance imaging (fMRI). Resting-state functional connectivity (rsFC) between the bilateral amygdala and PFC was compared among the 3 groups. Compared with depressive state participants of the BD group, manic state participants of the BD group showed a significant decrease in rsFC between the amygdala and right orbital frontal cortex (p<0.05, corrected). In addition, rsFC between the amygdala and left middle frontal cortex was significantly decreased in depressive and manic state participants of the BD group when compared with the HC group (p<0.05, corrected). Our findings suggest that mood state during the first episodes of BD may be related to abnormality in hemispheric lateralization. The abnormalities in amygdala- left PFC functional connectivity might present the trait feature for BD, while deficits in amygdala- right PFC functional connectivity might be specific to manic episode, compared to depressive episode. Copyright © 2017 Elsevier B.V. All rights reserved.
Abnormal proactive and reactive cognitive control during conflict processing in major depression.
Vanderhasselt, Marie-Anne; De Raedt, Rudi; De Paepe, Annick; Aarts, Kristien; Otte, Georges; Van Dorpe, Jan; Pourtois, Gilles
2014-02-01
According to the Dual Mechanisms of Control framework, cognitive control consists of two complementary components: proactive control refers to anticipatory maintenance of goal-relevant information, whereas reactive control acts as a correction mechanism that is activated when a conflict occurs. Possibly, the well-known diminished inhibitory control in response to negative stimuli in Major Depressive Disorder (MDD) patients stems from a breakdown in proactive control, and/or anomalies in reactive cognitive control. In our study, MDD patients specifically showed increased response latencies when actively inhibiting a dominant response to a sad compared with a happy face. This condition was associated with a longer duration of a dominant ERP topography (800-900 ms poststimulus onset) and a stronger activity in the bilateral dorsal anterior cingulate cortex, reflecting abnormal reactive control when inhibiting attention to a negative stimulus. Moreover, MDD patients showed abnormalities in proactive cognitive control when preparing for the upcoming imperative stimulus (abnormal modulation of the contingent negative variation component), accompanied by more activity in brain regions belonging to the default mode network. All together, deficits to inhibit attention to negative information in MDD might originate from an abnormal use of both proactive resources and reactive control processes. PsycINFO Database Record (c) 2014 APA, all rights reserved.
LANDSAT-D data format control book. Volume 6: (Products)
NASA Technical Reports Server (NTRS)
Kabat, F.
1981-01-01
Four basic product types are generated from the raw thematic mapper (TM) and multispectral scanner (MSS) payload data by the NASA GSFC LANDSAT 4 data management system: (1) unprocessed data (raw sensor data); (2) partially processed data, which consists of radiometrically corrected sensor data with geometric correction information appended; (3) fully processed data, which consists of radiometrically and geometrically corrected sensor data; and (4) inventory data which consists of summary information about product types 2 and 3. High density digital recorder formatting and the radiometric correction process are described. Geometric correction information is included.
Federal Register 2010, 2011, 2012, 2013, 2014
2011-01-26
... Testing of Certain High Production Volume Chemicals; Second Group of Chemicals; Technical Correction... production volume (HPV) chemical substances to obtain screening level data for health and environmental effects and chemical fate. This document is being issued to correct a typographical error concerning the...
Identification and correction of abnormal, incomplete and mispredicted proteins in public databases.
Nagy, Alinda; Hegyi, Hédi; Farkas, Krisztina; Tordai, Hedvig; Kozma, Evelin; Bányai, László; Patthy, László
2008-08-27
Despite significant improvements in computational annotation of genomes, sequences of abnormal, incomplete or incorrectly predicted genes and proteins remain abundant in public databases. Since the majority of incomplete, abnormal or mispredicted entries are not annotated as such, these errors seriously affect the reliability of these databases. Here we describe the MisPred approach that may provide an efficient means for the quality control of databases. The current version of the MisPred approach uses five distinct routines for identifying abnormal, incomplete or mispredicted entries based on the principle that a sequence is likely to be incorrect if some of its features conflict with our current knowledge about protein-coding genes and proteins: (i) conflict between the predicted subcellular localization of proteins and the absence of the corresponding sequence signals; (ii) presence of extracellular and cytoplasmic domains and the absence of transmembrane segments; (iii) co-occurrence of extracellular and nuclear domains; (iv) violation of domain integrity; (v) chimeras encoded by two or more genes located on different chromosomes. Analyses of predicted EnsEMBL protein sequences of nine deuterostome (Homo sapiens, Mus musculus, Rattus norvegicus, Monodelphis domestica, Gallus gallus, Xenopus tropicalis, Fugu rubripes, Danio rerio and Ciona intestinalis) and two protostome species (Caenorhabditis elegans and Drosophila melanogaster) have revealed that the absence of expected signal peptides and violation of domain integrity account for the majority of mispredictions. Analyses of sequences predicted by NCBI's GNOMON annotation pipeline show that the rates of mispredictions are comparable to those of EnsEMBL. Interestingly, even the manually curated UniProtKB/Swiss-Prot dataset is contaminated with mispredicted or abnormal proteins, although to a much lesser extent than UniProtKB/TrEMBL or the EnsEMBL or GNOMON-predicted entries. MisPred works efficiently in identifying errors in predictions generated by the most reliable gene prediction tools such as the EnsEMBL and NCBI's GNOMON pipelines and also guides the correction of errors. We suggest that application of the MisPred approach will significantly improve the quality of gene predictions and the associated databases.
Oddo, Anthony R; Ruedrich, Elizabeth; Zust, Christopher; Marugg, Lindsey; VanderWal, Echo; VanderWal, Harry; Sartori, Rebekah; Markert, Ronald; McCarthy, Mary C
2017-08-01
Circumcision has been found to be an effective strategy for lowering the transmission of HIV in Africa. The Luke Commission, a mobile hospital outreach program, has used this information to decrease the rate of HIV in Swaziland by performing voluntary male medical circumcisions throughout the country. During many of these circumcisions, genital medical conditions and penile abnormalities are simultaneously discovered and corrected. The goal of our study was to evaluate the prevalence of penile abnormalities discovered and treated during voluntary male medical circumcisions performed by The Luke Commission (TLC) throughout rural Swaziland. We completed a retrospective analysis of all male patients who underwent voluntary male medical circumcision performed by TLC during a period from June-August, 2014. The penile abnormalities included: phimosis, paraphimosis, epispadias, hypospadias, ulcers, balanitis, torsion, and foreskin adherent to the glans. Of 929 total circumcisions, 771 (83%) patients had at least one pre-existing penile abnormality identified during their examinations and procedures, totaling 1110 abnormalities. Three specific abnormalities were detected - phimosis, adherent foreskin, and hypospadias. The 6-12 and 13-19 age groups had adequate sample sizes to yield precise estimates of prevalence (age group 6-12: 87% (95% confidence interval [CI]=84-90%; age group 13-19: 79% (95% CI=74-84%). The Luke Commission is improving the lives of children and adults with limited access to healthcare through regular preoperative evaluations during male circumcision, and the organization is setting an example for other international healthcare groups. Type of Study: Prognostic Study, Level II. Copyright © 2017 Elsevier Inc. All rights reserved.
Endoscopy of the upper respiratory tract during treadmill exercise: a clinical study of 100 horses.
Kannegieter, N J; Dore, M L
1995-03-01
Endoscopy of the upper respiratory tract was performed in 100 horses during high speed treadmill exercise. Reasons for endoscopy were a history of an abnormal noise during exercise in 75 horses, poor performance in 17 horses and to evaluate the results of upper respiratory tract surgery in 8 horses. Of the 75 horses with a history of an abnormal noise during exercise the cause was determined in 67 (89%). Endoscopic abnormalities were detected at rest in 40 of these 75 horses (53%). In these 40 horses, a similar diagnosis as to the cause of the abnormal noise was made at rest and during exercise on the treadmill in 19 cases, while in the remaining 21 the endoscopic findings during exercise varied from that seen at rest. This included 3 horses in which a diagnosis was made at rest but no abnormalities were detected during exercise. Some of the findings during treadmill endoscopy included laryngeal dysfunction, grades 3, 4 and 5 (22 cases), dorsal displacement of the soft palate (20), epiglottic entrapment (8), epiglottic flutter (4), aryepiglottic fold flutter (4), pharyngeal collapse (3), arytenoiditis (3), vocal cord flutter (3), false nostril noise (2), pharyngeal lymphoid hyperplasia (2), soft palate haemorrhage (1) and positional arytenoid collapse (1). More than one abnormality was observed during exercise in 7 horses. A complete and correct diagnosis based on the resting endoscopy findings alone was made in 19 (25%) of these 75 cases. In the 17 horses examined because of poor performance, no abnormalities were detected during treadmill endoscopy that were not evident at rest.(ABSTRACT TRUNCATED AT 250 WORDS)
Im, K; Guimaraes, A; Kim, Y; Cottrill, E; Gagoski, B; Rollins, C; Ortinau, C; Yang, E; Grant, P E
2017-07-01
Aberrant gyral folding is a key feature in the diagnosis of many cerebral malformations. However, in fetal life, it is particularly challenging to confidently diagnose aberrant folding because of the rapid spatiotemporal changes of gyral development. Currently, there is no resource to measure how an individual fetal brain compares with normal spatiotemporal variations. In this study, we assessed the potential for automatic analysis of early sulcal patterns to detect individual fetal brains with cerebral abnormalities. Triplane MR images were aligned to create a motion-corrected volume for each individual fetal brain, and cortical plate surfaces were extracted. Sulcal basins were automatically identified on the cortical plate surface and compared with a combined set generated from 9 normal fetal brain templates. Sulcal pattern similarities to the templates were quantified by using multivariate geometric features and intersulcal relationships for 14 normal fetal brains and 5 fetal brains that were proved to be abnormal on postnatal MR imaging. Results were compared with the gyrification index. Significantly reduced sulcal pattern similarities to normal templates were found in all abnormal individual fetuses compared with normal fetuses (mean similarity [normal, abnormal], left: 0.818, 0.752; P < .001; right: 0.810, 0.753; P < .01). Altered location and depth patterns of sulcal basins were the primary distinguishing features. The gyrification index was not significantly different between the normal and abnormal groups. Automated analysis of interrelated patterning of early primary sulci could outperform the traditional gyrification index and has the potential to quantitatively detect individual fetuses with emerging abnormal sulcal patterns. © 2017 by American Journal of Neuroradiology.
Sampling methods to the statistical control of the production of blood components.
Pereira, Paulo; Seghatchian, Jerard; Caldeira, Beatriz; Santos, Paula; Castro, Rosa; Fernandes, Teresa; Xavier, Sandra; de Sousa, Gracinda; de Almeida E Sousa, João Paulo
2017-12-01
The control of blood components specifications is a requirement generalized in Europe by the European Commission Directives and in the US by the AABB standards. The use of a statistical process control methodology is recommended in the related literature, including the EDQM guideline. The control reliability is dependent of the sampling. However, a correct sampling methodology seems not to be systematically applied. Commonly, the sampling is intended to comply uniquely with the 1% specification to the produced blood components. Nevertheless, on a purely statistical viewpoint, this model could be argued not to be related to a consistent sampling technique. This could be a severe limitation to detect abnormal patterns and to assure that the production has a non-significant probability of producing nonconforming components. This article discusses what is happening in blood establishments. Three statistical methodologies are proposed: simple random sampling, sampling based on the proportion of a finite population, and sampling based on the inspection level. The empirical results demonstrate that these models are practicable in blood establishments contributing to the robustness of sampling and related statistical process control decisions for the purpose they are suggested for. Copyright © 2017 Elsevier Ltd. All rights reserved.
Observation-Corrected Precipitation Estimates in GEOS-5
NASA Technical Reports Server (NTRS)
Reichle, Rolf H.; Liu, Qing
2014-01-01
Several GEOS-5 applications, including the GEOS-5 seasonal forecasting system and the MERRA-Land data product, rely on global precipitation data that have been corrected with satellite and or gauge-based precipitation observations. This document describes the methodology used to generate the corrected precipitation estimates and their use in GEOS-5 applications. The corrected precipitation estimates are derived by disaggregating publicly available, observationally based, global precipitation products from daily or pentad totals to hourly accumulations using background precipitation estimates from the GEOS-5 atmospheric data assimilation system. Depending on the specific combination of the observational precipitation product and the GEOS-5 background estimates, the observational product may also be downscaled in space. The resulting corrected precipitation data product is at the finer temporal and spatial resolution of the GEOS-5 background and matches the observed precipitation at the coarser scale of the observational product, separately for each day (or pentad) and each grid cell.
Feng, Jian Q.; Clinkenbeard, Erica L.; Yuan, Baozhi; White, Kenneth E.; Drezner, Marc K.
2013-01-01
Although recent studies have established that osteocytes function as secretory cells that regulate phosphate metabolism, the biomolecular mechanism(s) underlying these effects remain incompletely defined. However, investigations focusing on the pathogenesis of X-linked hypophosphatemia (XLH), autosomal dominant hypophosphatemic rickets (ADHR), and autosomal recessive hypophosphatemic rickets (ARHR), heritable disorders characterized by abnormal renal phosphate wasting and bone mineralization, have clearly implicated FGF23 as a central factor in osteocytes underlying renal phosphate wasting, documented new molecular pathways regulating FGF23 production, and revealed complementary abnormalities in osteocytes that regulate bone mineralization. The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events. These discoveries indicate that ADHR, XLH, and ARHR represent three related heritable hypophosphatemic diseases that arise from mutations in, or dysregulation of, a single common gene product, FGF23 and, in ARHR and XLH, complimentary DMP1 and PHEX directed events that contribute to abnormal bone mineralization. PMID:23403405
Reactive oxygen species in human semen in relation to leukocyte contamination.
Oborna, Ivana; Fingerova, Helena; Novotny, Jiri; Brezinova, Jana; Svobodova, Magda; Aziz, Nabil
2009-03-01
Excessive production of reactive oxygen species (ROS) in semen has been linked to male infertility. Main sources of ROS in male genital tract are immature and/or damaged spermatozoa and a subpopulation of leukocytes known as polymorphonuclear neutrophils (PMN). Study group included male partners of infertile couples, 67 normospermic males (group B) and 98 males with sperm abnormalities in one or more parameters (group C), 36 fertile volunteers (group A) served as controls. Sperm parameters were determined according to WHO guidelines. The ROS production was measured by chemiluminiscence in sperm suspension in phosphate buffered saline. All fertile volunteers in the control group had seminal PMN concentrations below 0.5x10(6)/ml. Therefore study subjects, 67 normospermic and 98 men with sperm abnormalities, were further subdivided into two subgroups of PMN concentrations: (1) < 0.5x10(6)/ml and (2) 0.5 to 1.0x10(6)/ml. The ROS production in individuals varied greatly from 1.0x10(2) to 1.7 x10(7) RLU/min per 20x10(6) spermatozoa. The ROS production in both subgroups of normospermic men and the subgroup (1) of men with sperm abnormalities was not different from the ROS production in fertile controls. The ROS production in the subgroup (2) with sperm abnormalities was significantly higher than in controls (P = 0.00004). Our findings suggest that the contribution of PMN to the ROS production in semen is negligible only up to a concentration of 0.5x10(6)/ml. This suggests that the current WHO Guidelines threshold of 1.0x10(6) PMN per ml of semen is too high and might be re-evaluated.
Diverse hematological phenotypes of β-thalassemia carriers.
Luo, Hong-Yuan; Chui, David H K
2016-03-01
Most β-thalassemia carriers have mild anemia, low mean corpuscular volume and mean corpuscular hemoglobin, and elevated hemoglobin α2 (HbA2 ). However, there is considerable variability resulting from coinheritance with α- and/or δ-globin gene mutations, dominant inheritance of β-thalassemia mutations, highly unstable variant globin chains, large deletions removing part or all of the β-globin gene cluster, loss of heterozygosity of the β-globin gene cluster during development, or concomitant erythroid enzyme or membrane protein abnormalities. Recognition of the specific abnormality and correct diagnosis can allay anxiety and unnecessary investigation, help formulate treatment programs, and deliver appropriate genetic and family counseling. © 2016 New York Academy of Sciences.
Musculoskeletal and overgrowth syndromes associated with cutaneous abnormalities
Morris, Michael A; Ring, Christina M; Mehregan, Darius; Mulligan, Michael E
2016-01-01
There are cutaneous abnormalities that are characteristic to certain peculiar musculoskeletal conditions. The understanding of associated imaging and clinical skin findings together in this context can play an important role for the dermatologist and radiologist in establishing the correct diagnoses. The scope of dermatological manifestations of many acquired diseases of the soft tissues, muscles or bone is broad. Therefore, the intent of this article is to review those entities that are genetic and/or inherited. The goal of this review is to develop a better understanding of the cases presented. In these cases, collaboration between dermatologists and radiologists may be paramount to generating a diagnosis and monitoring at-risk patients. PMID:27537080
Current concepts of ocular adnexal surgery
Borrelli, Maria; Geerling, Gerd
2013-01-01
Ophthalmic Plastic and Reconstructive Surgery is a specialized area of ophthalmology that deals with the management of deformities and abnormalities of the eyelids, lacrimal system and the orbit. An ophthalmoplastic surgeon is able to identify and correct abnormalities of the ocular adnexae such as ectropion, lid retraction, conjunctival scarring with severe entropion, that can cause secondary ocular surface disorders; manage patients with watering eye, and when needed intervene with a dacryocystorhinostomy by external or endonasal approach and moreover minimize disfigurement following enucleation or evisceration and prevent further corneal damage, alleviate complains of tearing and grittiness, but also cosmetic complaints in patients with Graves’ orbitopathy. Aim of this manuscript was to review current established and recently evolving surgical procedures. PMID:26504698
Use of Machine Learning to Identify Children with Autism and Their Motor Abnormalities
ERIC Educational Resources Information Center
Crippa, Alessandro; Salvatore, Christian; Perego, Paolo; Forti, Sara; Nobile, Maria; Molteni, Massimo; Castiglioni, Isabella
2015-01-01
In the present work, we have undertaken a proof-of-concept study to determine whether a simple upper-limb movement could be useful to accurately classify low-functioning children with autism spectrum disorder (ASD) aged 2-4. To answer this question, we developed a supervised machine-learning method to correctly discriminate 15 preschool children…
NASA Astrophysics Data System (ADS)
Beria, H.; Nanda, T., Sr.; Chatterjee, C.
2015-12-01
High resolution satellite precipitation products such as Tropical Rainfall Measuring Mission (TRMM), Climate Forecast System Reanalysis (CFSR), European Centre for Medium-Range Weather Forecasts (ECMWF), etc., offer a promising alternative to flood forecasting in data scarce regions. At the current state-of-art, these products cannot be used in the raw form for flood forecasting, even at smaller lead times. In the current study, these precipitation products are bias corrected using statistical techniques, such as additive and multiplicative bias corrections, and wavelet multi-resolution analysis (MRA) with India Meteorological Department (IMD) gridded precipitation product,obtained from gauge-based rainfall estimates. Neural network based rainfall-runoff modeling using these bias corrected products provide encouraging results for flood forecasting upto 48 hours lead time. We will present various statistical and graphical interpretations of catchment response to high rainfall events using both the raw and bias corrected precipitation products at different lead times.
Kuperberg, Gina R; Delaney-Busch, Nathaniel; Fanucci, Kristina; Blackford, Trevor
2018-01-01
Lexico-semantic disturbances are considered central to schizophrenia. Clinically, their clearest manifestation is in language production. However, most studies probing their underlying mechanisms have used comprehension or categorization tasks. Here, we probed automatic semantic activity prior to language production in schizophrenia using event-related potentials (ERPs). 19 people with schizophrenia and 16 demographically-matched healthy controls named target pictures that were very quickly preceded by masked prime words. To probe automatic semantic activity prior to production, we measured the N400 ERP component evoked by these targets. To determine the origin of any automatic semantic abnormalities, we manipulated the type of relationship between prime and target such that they overlapped in (a) their semantic features (semantically related, e.g. "cake" preceding a < picture of a pie >, (b) their initial phonemes (phonemically related, e.g. "stomach" preceding a < picture of a starfish >), or (c) both their semantic features and their orthographic/phonological word form (identity related, e.g. "socks" preceding a < picture of socks >). For each of these three types of relationship, the same targets were paired with unrelated prime words (counterbalanced across lists). We contrasted ERPs and naming times to each type of related target with its corresponding unrelated target. People with schizophrenia showed abnormal N400 modulation prior to naming identity related (versus unrelated) targets: whereas healthy control participants produced a smaller amplitude N400 to identity related than unrelated targets, patients showed the opposite pattern, producing a larger N400 to identity related than unrelated targets. This abnormality was specific to the identity related targets. Just like healthy control participants, people with schizophrenia produced a smaller N400 to semantically related than to unrelated targets, and showed no difference in the N400 evoked by phonemically related and unrelated targets. There were no differences between the two groups in the pattern of naming times across conditions. People with schizophrenia can show abnormal neural activity associated with automatic semantic processing prior to language production. The specificity of this abnormality to the identity related targets suggests that that, rather than arising from abnormalities of either semantic features or lexical form alone, it may stem from disruptions of mappings (connections) between the meaning of words and their form.
Sabesan, Ramkumar; Barbot, Antoine; Yoon, Geunyoung
2017-03-01
Highly aberrated keratoconic (KC) eyes do not elicit the expected visual advantage from customized optical corrections. This is attributed to the neural insensitivity arising from chronic visual experience with poor retinal image quality, dominated by low spatial frequencies. The goal of this study was to investigate if targeted perceptual learning with adaptive optics (AO) can stimulate neural plasticity in these highly aberrated eyes. The worse eye of 2 KC subjects was trained in a contrast threshold test under AO correction. Prior to training, tumbling 'E' visual acuity and contrast sensitivity at 4, 8, 12, 16, 20, 24 and 28 c/deg were measured in both the trained and untrained eyes of each subject with their routine prescription and with AO correction for a 6mm pupil. The high spatial frequency requiring 50% contrast for detection with AO correction was picked as the training frequency. Subjects were required to train on a contrast detection test with AO correction for 1h for 5 consecutive days. During each training session, threshold contrast measurement at the training frequency with AO was conducted. Pre-training measures were repeated after the 5 training sessions in both eyes (i.e., post-training). After training, contrast sensitivity under AO correction improved on average across spatial frequency by a factor of 1.91 (range: 1.77-2.04) and 1.75 (1.22-2.34) for the two subjects. This improvement in contrast sensitivity transferred to visual acuity with the two subjects improving by 1.5 and 1.3 lines respectively with AO following training. One of the two subjects denoted an interocular transfer of training and an improvement in performance with their routine prescription post-training. This training-induced visual benefit demonstrates the potential of AO as a tool for neural rehabilitation in patients with abnormal corneas. Moreover, it reveals a sufficient degree of neural plasticity in normally developed adults who have a long history of abnormal visual experience due to optical imperfections. Copyright © 2016 Elsevier Ltd. All rights reserved.
Animal cloning: problems and prospects.
Wells, D N
2005-04-01
An efficient animal cloning technology would provide many new opportunities for livestock agriculture, human medicine, and animal conservation. Nuclear cloning involves the production of animals that are genetically identical to the donor cells used in a technique known as nuclear transfer (NT). However, at present it is an inefficient process: in cattle, only around 6% of the embryos transferred to the reproductive tracts of recipient cows result in healthy, longterm surviving clones. Of concern are the high losses throughout gestation, during birth and in the post-natal period through to adulthood. Many of the pregnancy losses relate to failure of the placenta to develop and function correctly. Placental dysfunction may also have an adverse influence on postnatal health. These anomalies are probably due to incorrect epigenetic reprogramming of the donor genome following NT, leading to inappropriate patterns of gene expression during the development of clones. Whilst some physiological tests on surviving clones suggest normality, other reports indicate a variety of post-natal clone-associated abnormalities. This variability in outcome may reflect species-specific and/or cloning methodological differences. Importantly, to date it appears that these clone-associated phenotypes are not transmitted to offspring following sexual reproduction. This indicates that they represent epigenetic errors, rather than genetic errors, which are corrected during gametogenesis. Whilst this needs confirmation at the molecular level, it provides initial confidence in the first application of NT in agriculture, namely, the production of small numbers of cloned sires from genetically elite bulls, for natural mating, to effectively disseminate genetic gain. In addition to the animal welfare concerns with the technology, the underlying health of the animals and the consequential effect on food safety are critical aspects that require investigation to gain regulatory and consumer acceptance. Future improvements in animal cloning will largely arise from a greater understanding of the molecular mechanisms of reprogramming.
High prevalence of abnormal motor repertoire at 3 months corrected age in extremely preterm infants.
Fjørtoft, Toril; Evensen, Kari Anne I; Øberg, Gunn Kristin; Songstad, Nils Thomas; Labori, Cathrine; Silberg, Inger Elisabeth; Loennecken, Marianne; Møinichen, Unn Inger; Vågen, Randi; Støen, Ragnhild; Adde, Lars
2016-03-01
To compare early motor repertoire between extremely preterm and term-born infants. An association between the motor repertoire and gestational age and birth weight was explored in extremely preterm infants without severe ultrasound abnormalities. In a multicentre study, the early motor repertoire of 82 infants born extremely preterm (ELGAN:<28 weeks) and/or with extremely low birth weight (ELBW:<1000 g) and 87 term-born infants were assessed by the "Assessment of Motor Repertoire - 2 to 5 Months" (AMR) which is part of Prechtl's "General Movement Assessment", at 12 weeks post-term age. Fidgety movements were classified as normal if present and abnormal if absent, sporadic or exaggerated. Concurrent motor repertoire was classified as normal if smooth and fluent and abnormal if monotonous, stiff, jerky and/or predominantly fast or slow. Eight-teen ELBW/ELGAN infants had abnormal fidgety movements (8 absent, 7 sporadic and 3 exaggerated fidgety movements) compared with 2 control infants (OR:12.0; 95%CI:2.7-53.4) and 46 ELBW/ELGAN infants had abnormal concurrent motor repertoire compared with 17 control infants (OR:5.3; 95%CI:2.6-10.5). Almost all detailed aspects of the AMR differed between the groups. Results were the same when three infants with severe ultrasound abnormalities were excluded. In the remaining ELBW/ELGAN infants, there was no association between motor repertoire and gestational age or birth weight. ELBW/ELGAN infants had poorer quality of early motor repertoire than term-born infants.The findings were not explained by severe abnormalities on neonatal ultrasound scans and were not correlated to the degree of prematurity. The consequences of these abnormal movement patterns remain to be seen in future follow-up studies. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Woodward, Lianne J.; Clark, Caron A. C.; Bora, Samudragupta; Inder, Terrie E.
2012-01-01
Background Cerebral white matter abnormalities on term MRI are a strong predictor of motor disability in children born very preterm. However, their contribution to cognitive impairment is less certain. Objective Examine relationships between the presence and severity of cerebral white matter abnormalities on neonatal MRI and a range of neurocognitive outcomes assessed at ages 4 and 6 years. Design/Methods The study sample consisted of a regionally representative cohort of 104 very preterm (≤32 weeks gestation) infants born from 1998–2000 and a comparison group of 107 full-term infants. At term equivalent, all preterm infants underwent a structural MRI scan that was analyzed qualitatively for the presence and severity of cerebral white matter abnormalities, including cysts, signal abnormalities, loss of white matter volume, ventriculomegaly, and corpus callosal thinning/myelination. At corrected ages 4 and 6 years, all children underwent a comprehensive neurodevelopmental assessment that included measures of general intellectual ability, language development, and executive functioning. Results At 4 and 6 years, very preterm children without cerebral white matter abnormalities showed no apparent neurocognitive impairments relative to their full-term peers on any of the domain specific measures of intelligence, language, and executive functioning. In contrast, children born very preterm with mild and moderate-to-severe white matter abnormalities were characterized by performance impairments across all measures and time points, with more severe cerebral abnormalities being associated with increased risks of cognitive impairment. These associations persisted after adjustment for gender, neonatal medical risk factors, and family social risk. Conclusions Findings highlight the importance of cerebral white matter connectivity for later intact cognitive functioning amongst children born very preterm. Preterm born children without cerebral white matter abnormalities on their term MRI appear to be spared many of the cognitive impairments commonly associated with preterm birth. Further follow-up will be important to assess whether this finding persists into the school years. PMID:23284800
Association of electrocardiogram abnormalities and incident heart failure events.
Gencer, Baris; Butler, Javed; Bauer, Douglas C; Auer, Reto; Kalogeropoulos, Andreas; Marques-Vidal, Pedro; Applegate, William B; Satterfield, Suzanne; Harris, Tamara; Newman, Anne; Vittinghoff, Eric; Rodondi, Nicolas
2014-06-01
Unless effective preventive strategies are implemented, aging of the population will result in a significant worsening of the heart failure (HF) epidemic. Few data exist on whether baseline electrocardiographic (ECG) abnormalities can refine risk prediction for HF. We examined a prospective cohort of 2,915 participants aged 70 to 79 years without preexisting HF, enrolled between April 1997 and June 1998 in the Health, Aging, and Body Composition (Health ABC) study. Minnesota Code was used to define major and minor ECG abnormalities at baseline and at year 4 follow-up. Using Cox models, we assessed (1) the association between ECG abnormalities and incident HF and (2) the incremental value of adding ECG to the Health ABC HF Risk Score using the net reclassification index. At baseline, 380 participants (13.0%) had minor, and 620 (21.3%) had major ECG abnormalities. During a median follow-up of 11.4 years, 485 participants (16.6%) developed incident HF. After adjusting for the Health ABC HF Risk Score variables, the hazard ratio (HR) was 1.27 (95% CI 0.96-1.68) for minor and 1.99 (95% CI 1.61-2.44) for major ECG abnormalities. At year 4, 263 participants developed new and 549 had persistent abnormalities; both were associated with increased subsequent HF risk (HR 1.94, 95% CI 1.38-2.72 for new and HR 2.35, 95% CI 1.82-3.02 for persistent ECG abnormalities). Baseline ECG correctly reclassified 10.5% of patients with HF events, 0.8% of those without HF events, and 1.4% of the overall population. The net reclassification index across the Health ABC HF risk categories was 0.11 (95% CI 0.03-0.19). Among older adults, baseline and new ECG abnormalities are independently associated with increased risk of HF. The contribution of ECG screening for targeted prevention of HF should be evaluated in clinical trials. Copyright © 2014 Mosby, Inc. All rights reserved.
NASA Astrophysics Data System (ADS)
Makita, Shuichi; Kurokawa, Kazuhiro; Hong, Young-Joo; Li, En; Miura, Masahiro; Yasuno, Yoshiaki
2016-03-01
A new optical coherence angiography (OCA) method, called correlation mapping OCA (cmOCA), is presented by using the SNR-corrected complex correlation. An SNR-correction theory for the complex correlation calculation is presented. The method also integrates a motion-artifact-removal method for the sample motion induced decorrelation artifact. The theory is further extended to compute more reliable correlation by using multi- channel OCT systems, such as Jones-matrix OCT. The high contrast vasculature imaging of in vivo human posterior eye has been obtained. Composite imaging of cmOCA and degree of polarization uniformity indicates abnormalities of vasculature and pigmented tissues simultaneously.
Ferguson, Elizabeth H; Di Florio, Arianna; Pearson, Brenda; Putnam, Karen T; Girdler, Susan; Rubinow, David R; Meltzer-Brody, Samantha
2017-06-01
It is unclear whether women with a history of postpartum depression (PPD) have residual, abnormal hypothalamic-pituitary-adrenal (HPA) axis reactivity, as has been reported in major depression (MDD). Further unclear is whether the abnormalities in HPA axis reactivity associated with MDD represent a stable, underlying predisposition or a state-dependent phenomenon. This study sought the following: (1) to determine if euthymic postpartum women with a history of depression have an abnormal HPA axis reactivity to pharmacologic and psychological challenges and (2) to compare HPA reactivity in women with histories of PPD versus MDD. As a secondary objective, we wanted to determine the influence of trauma history on HPA axis function. Forty-five parous (12-24 months postpartum), euthymic women with history of MDD (n = 15), PPD (n = 15), and controls (n = 15) completed pharmacologic (dexamethasone/corticotropin-releasing hormone (CRH) test [DEX/CRH]) and psychological (Trier social stress test [TSST]) challenges during the luteal phase. Outcome measures were cortisol and adrenocorticotropic hormone (ACTH) response after DEX/CRH, and blood pressure, heart rate, epinephrine, norepinephrine, and cortisol response during the TSST. All groups had robust cortisol and ACTH response to DEX/CRH and cortisol response to TSST. Groups did not differ significantly in cortisol or ACTH response to DEX/CRH or in blood pressure, heart rate, epinephrine, norepinephrine, or cortisol response to TSST. Cortisol/ACTH ratio did not differ significantly between groups. Trauma history was associated with decreased cortisol response to DEX/CRH in women with histories of MDD, which was not significant after correction (F 8,125 , p = 0.02, Greenhouse-Geisser corrected p = 0.11). Currently euthymic women with histories of MDD or PPD did not demonstrate residual abnormal stress responsivity following administration of either a pharmacologic or psychological stressor.
Lu, Yi; Liang, Hongmin; Han, Dan; Mo, Yin; Li, Zongfang; Cheng, Yuqi; Xu, Xiufeng; Shen, Zonglin; Tan, Chunyan; Zhao, Wei; Zhu, Yun; Sun, Xuejin
2016-01-01
Previous MRI studies confirmed abnormalities in the limbic-cortical-striatal-pallidal-thalamic (LCSPT) network or limbic-cortico-striatal-thalamic-cortical (LCSTC) circuits in patients with major depressive disorder (MDD), but few studies have investigated the subcortical structural abnormalities. Therefore, we sought to determine whether focal subcortical grey matter (GM) changes might be present in MDD at an early stage. We recruited 30 first episode, untreated patients with major depressive disorder (MDD) and 26 healthy control subjects. Voxel-based morphometry was used to evaluate cortical grey matter changes, and automated volumetric and shape analyses were used to assess volume and shape changes of the subcortical GM structures, respectively. In addition, probabilistic tractography methods were used to demonstrate the relationship between the subcortical and the cortical GM. Compared to healthy controls, MDD patients had significant volume reductions in the bilateral putamen and left thalamus (FWE-corrected, p < 0.05). Meanwhile, the vertex-based shape analysis showed regionally contracted areas on the dorsolateral and ventromedial aspects of the bilateral putamen, and on the dorsal and ventral aspects of left thalamus in MDD patients (FWE-corrected, p < 0.05). Additionally, a negative correlation was found between local atrophy in the dorsal aspects of the left thalamus and clinical variables representing severity. Furthermore, probabilistic tractography demonstrated that the area of shape deformation of the bilateral putamen and left thalamus have connections with the frontal and temporal lobes, which were found to be related to major depression. Our results suggested that structural abnormalities in the putamen and thalamus might be present in the early stages of MDD, which support the role of subcortical structure in the pathophysiology of MDD. Meanwhile, the present study showed that these subcortical structural abnormalities might be the potential trait markers of MDD.
Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency.
Arrant, Andrew E; Nicholson, Alexandra M; Zhou, Xiaolai; Rademakers, Rosa; Roberson, Erik D
2018-06-22
Loss of function mutations in progranulin (GRN) are a major cause of frontotemporal dementia (FTD). Progranulin is a secreted glycoprotein that localizes to lysosomes and is critical for proper lysosomal function. Heterozygous GRN mutation carriers develop FTD with TDP-43 pathology and exhibit signs of lysosomal dysfunction in the brain, with increased levels of lysosomal proteins and lipofuscin accumulation. Homozygous GRN mutation carriers develop neuronal ceroid lipofuscinosis (NCL), an earlier-onset lysosomal storage disorder caused by severe lysosomal dysfunction. Multiple genome-wide association studies have shown that risk of FTD in GRN mutation carriers is modified by polymorphisms in TMEM106B, which encodes a lysosomal membrane protein. Risk alleles of TMEM106B may increase TMEM106B levels through a variety of mechanisms. Brains from FTD patients with GRN mutations exhibit increased TMEM106B expression, and protective TMEM106B polymorphisms are associated with decreased TMEM106B expression. Together, these data raise the possibility that reduction of TMEM106B levels may protect against the pathogenic effects of progranulin haploinsufficiency. We crossed Tmem106b +/- mice with Grn +/- mice, which model the progranulin haploinsufficiency of GRN mutation carriers and develop age-dependent social deficits and lysosomal abnormalities in the brain. We tested whether partial Tmem106b reduction could normalize the social deficits and lysosomal abnormalities of Grn +/- mice. Partial reduction of Tmem106b levels did not correct the social deficits of Grn +/- mice. Tmem106b reduction also failed to normalize most lysosomal abnormalities of Grn +/- mice, except for β-glucuronidase activity, which was suppressed by Tmem106b reduction and increased by progranulin insufficiency. These data do not support the hypothesis that Tmem106b reduction protects against the pathogenic effects of progranulin haploinsufficiency, but do show that Tmem106b reduction normalizes some lysosomal phenotypes in Grn +/- mice.
Grygorowicz, Monika; Piontek, Tomasz; Dudzinski, Witold
2013-01-01
The main objective(s) of the study The aim of this study was to analyze: a) abnormalities in the length of lower limb muscles, b) the correctness of movement patterns, and c) the impact of functional limitations of muscles on the correctness of fundamental movement patterns in a group of female soccer players, in relation to their skill level. Materials and Methods 21 female soccer players from Polish Ekstraklasa and 22 players from the 1st Division were tested for lower limb muscle length restrictions and level of fundamental movement skills (with the Fundamental Movement Screen™ test concept by Gray Cook). Chi-square test was used for categorical unrelated variables. Differences between groups in absolute point values were analyzed using the non-parametric Mann-Whitney U test. Statistical significance was set at p<0.05. Results Statistically significant higher number of measurements indicating an abnormal length of rectus femoris was observed in the 1st Division group (p = 0.0433). In the group of Ekstraklasa the authors obtained a significantly higher number of abnormal hamstring test results (p = 0.0006). Ekstraklasa players scored higher in the rotational stability test of the trunk (p = 0.0008), whereas the 1st Division players scored higher in the following tests: deep squat (p = 0.0220), in-line lunge (p = 0.0042) and active straight leg raise (p = 0.0125). The results suggest that there are different functional reasons affecting point values obtained in the FMS™ tests in both analyzed groups. Conclusions The differences in the flexibility of rectus femoris and hamstring muscle observed between female soccer players with different levels of training, may result from a long-term impact of soccer training on the muscle-tendon system and articular structures. Different causes of abnormalities in fundamental movement patterns in both analyzed groups suggest the need for tailoring prevention programs to the level of sport skills represented by the players. PMID:23825579
Tan, Xue; Aoki, Aya; Yanagi, Yasuo
2013-01-01
Patients with the complete form of congenital stationary night blindness (CSNB) often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a detailed examination. He had no family history of color vision deficiency and no other symptoms. During the initial examination, his best-corrected visual acuity was 1.2 in both eyes. His fundus showed no abnormalities except for somewhat yellowish reflex in the fovea of both eyes. Electroretinogram (ERG) showed a good response in cone ERG and 30 Hz flicker ERG, however, the bright flash, mixed rod and cone ERG showed a negative type with a reduced b-wave (positive deflection). There was no response in the rod ERG, either. From the findings of the typical ERG, the patient was diagnosed with complete congenital stationary night blindness. This case underscores the importance of ERG in order to diagnose the cause of a color vision anomaly.
Provenzale, James M.; Nestrasil, Igor; Chen, Steven; Kan, Shih-hsin; Le, Steven Q.; Jens, Jacqueline K.; Snella, Elizabeth M.; Vondrak, Kristen N.; Yee, Jennifer K.; Vite, Charles H.; Elashoff, David; Duan, Lewei; Wang, Raymond Y.; Ellinwood, N. Matthew; Guzman, Miguel A.; Shapiro, Elsa G.; Dickson, Patricia I.
2015-01-01
Children with mucopolysaccharidosis I (MPS I) develop hyperintense white matter foci on T2-weighted brain magnetic resonance (MR) imaging that are associated clinically with cognitive impairment. We report here a diffusion tensor imaging (DTI) and tissue evaluation of white matter in a canine model of MPS I. We found that two DTI parameters, fractional anisotropy (a measure of white matter integrity) and radial diffusivity (which reflects degree of myelination) were abnormal in the corpus callosum of MPS I dogs compared to carrier controls. Tissue studies of the corpus callosum showed reduced expression of myelin-related genes and an abnormal composition of myelin in MPS I dogs. We treated MPS I dogs with recombinant alpha-l-iduronidase, which is the enzyme that is deficient in MPS I disease. The recombinant alpha-l-iduronidase was administered by intrathecal injection into the cisterna magna. Treated dogs showed partial correction of corpus callosum myelination. Our findings suggest that abnormal myelination occurs in the canine MPS I brain, that it may underlie clinically-relevant brain imaging findings in human MPS I patients, and that it may respond to treatment. PMID:26222335
Ocular Findings in Children With 22q11.2 Deletion Syndrome.
Gokturk, Bahar; Topcu-Yilmaz, Pinar; Bozkurt, Banu; Yildirim, Mahmut Selman; Guner, Sukru Nail; Sayar, Esra Hazar; Reisli, Ismail
2016-07-01
To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222]. Copyright 2016, SLACK Incorporated.
Impact of MODIS SWIR Band Calibration Improvements on Level-3 Atmospheric Products
NASA Technical Reports Server (NTRS)
Wald, Andrew; Levy, Robert; Angal, Amit; Geng, Xu; Xiong, Jack; Hoffman, Kurt
2016-01-01
The spectral reflectance measured by the MODIS reflective solar bands (RSB) is used for retrieving many atmospheric science products. The accuracy of these products depends on the accuracy of the calibration of the RSB. To this end, the RSB of the MODIS instruments are primarily calibrated on-orbit using regular solar diffuser (SD) observations. For lambda < 0.94 microns the SDs on-orbit bi-directional reflectance factor (BRF) change is tracked using solar diffuser stability monitor (SDSM) observations. For lambda > 0.94 microns, the MODIS Characterization Support Team (MCST) developed, in MODIS Collection 6 (C6), a time-dependent correction using observations from pseudo-invariant earth-scene targets. This correction has been implemented in C6 for the Terra MODIS 1.24 micron band over the entire mission, and for the 1.375 micron band in the forward processing. As the instruments continue to operate beyond their design lifetime of six years, a similar correction is planned for other short-wave infrared (SWIR) bands as well. MODIS SWIR bands are used in deriving atmosphere products, including aerosol optical thickness, atmospheric total column water vapor, cloud fraction and cloud optical depth. The SD degradation correction in Terra bands 5 and 26 impact the spectral radiance and therefore the retrieval of these atmosphere products. Here, we describe the corrections to Bands 5 (1.24 microns) and 26 (1.375 microns), and produce three sets (B5, B26 correction on/on, on/off, and off/off) of Terra-MODIS Level 1B (calibrated radiance product) data. By comparing products derived from these corrected and uncorrected Terra MODIS Level 1B (L1B) calibrations, dozens of L3 atmosphere products are surveyed for changes caused by the corrections, and representative results are presented. Aerosol and water vapor products show only small local changes, while some cloud products can change locally by > 10%, which is a large change.
Higher order corrections to mixed QCD-EW contributions to Higgs boson production in gluon fusion
NASA Astrophysics Data System (ADS)
Bonetti, Marco; Melnikov, Kirill; Tancredi, Lorenzo
2018-03-01
We present an estimate of the next-to-leading-order (NLO) QCD corrections to mixed QCD-electroweak contributions to the Higgs boson production cross section in gluon fusion, combining the recently computed three-loop virtual corrections and the approximate treatment of real emission in the soft approximation. We find that the NLO QCD corrections to the mixed QCD-electroweak contributions are nearly identical to NLO QCD corrections to QCD Higgs production. Our result confirms an earlier estimate of these O (α αs2) effects by Anastasiou et al. [J. High Energy Phys. 04 (2009) 003, 10.1088/1126-6708/2009/04/003] and provides further support for the factorization approximation of QCD and electroweak corrections.
Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells
NASA Astrophysics Data System (ADS)
Bershteyn, Marina; Hayashi, Yohei; Desachy, Guillaume; Hsiao, Edward C.; Sami, Salma; Tsang, Kathryn M.; Weiss, Lauren A.; Kriegstein, Arnold R.; Yamanaka, Shinya; Wynshaw-Boris, Anthony
2014-03-01
Ring chromosomes are structural aberrations commonly associated with birth defects, mental disabilities and growth retardation. Rings form after fusion of the long and short arms of a chromosome, and are sometimes associated with large terminal deletions. Owing to the severity of these large aberrations that can affect multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have been proposed. During cell division, ring chromosomes can exhibit unstable behaviour leading to continuous production of aneuploid progeny with low viability and high cellular death rate. The overall consequences of this chromosomal instability have been largely unexplored in experimental model systems. Here we generated human induced pluripotent stem cells (iPSCs) from patient fibroblasts containing ring chromosomes with large deletions and found that reprogrammed cells lost the abnormal chromosome and duplicated the wild-type homologue through the compensatory uniparental disomy (UPD) mechanism. The karyotypically normal iPSCs with isodisomy for the corrected chromosome outgrew co-existing aneuploid populations, enabling rapid and efficient isolation of patient-derived iPSCs devoid of the original chromosomal aberration. Our results suggest a fundamentally different function for cellular reprogramming as a means of `chromosome therapy' to reverse combined loss-of-function across many genes in cells with large-scale aberrations involving ring structures. In addition, our work provides an experimentally tractable human cellular system for studying mechanisms of chromosomal number control, which is of critical relevance to human development and disease.
Adenosine deaminase deficiency: a review.
Flinn, Aisling M; Gennery, Andrew R
2018-04-24
Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodeficiency. Whilst most notable affects are on lymphocytes, other manifestations include skeletal abnormalities, neurodevelopmental affects and pulmonary manifestations associated with pulmonary-alveolar proteinosis. Affected patients present in early infancy, usually with persistent infection, or with pulmonary insufficiency. Three treatment options are currently available. Initial treatment with enzyme replacement therapy may alleviate acute symptoms and enable partial immunological reconstitution, but treatment is life-long, immune reconstitution is incomplete, and the reconstituted immune system may nullify the effects of the enzyme replacement. Hematopoietic stem cell transplant has long been established as the treatment of choice, particularly where a matched sibling or well matched unrelated donor is available. More recently, the use of gene addition techniques to correct the genetic defect in autologous haematopoietic stem cells treatment has demonstrated immunological and clinical efficacy. This article reviews the biology, clinical presentation, diagnosis and treatment of ADA-deficiency.
[The use of prokinetics for the correction of motor and tonic digestive disorders].
Maev, I V; Samsonov, A A; Karmanova, E A; Ivanchenko, E A
2009-01-01
Abnormal tonic-motor activity is a key component in pathogenesis of many digestive disorders. Secondary disturbance of tonic-motor activity of digestive organs and the accompanying symptoms are known to develop in conjunction with diseases of other organs and systems, diabetes mellitus, Parkinson's disease, myotonic muscular dystrophy, amyloidosis, hyper- and hypothyroidism, hypoparathyroidism, etc. Disturbed motor activity in the gastro-duodenal region most frequently underlies functional dyspepsia, i.e. a group of symptoms unrelated to organic, systemic and metabolic diseases. Prokinetics are an important class of medicinal products for the treatment of all clinical forms of dyspepsia. One of the new ones is itopride hdrochloride having combined mechanism of action. Clinical studies of this drug revealed its high efficiency in patients with functional dyspepsia, chronic gastritis, and diabetic gastroparesis. It is well tolerated by the patients and produces no serious side effects. Inclusion of this drug in therapy improves the outcome of the treatment of disturbed motor activity of the gastrointestinal tract.
Imaging of congenital chest wall deformities
Bhaludin, Basrull N; Naaseri, Sahar; Di Chiara, Francesco; Jordan, Simon; Padley, Simon
2016-01-01
To identify the anatomy and pathology of chest wall malformations presenting for consideration for corrective surgery or as a possible chest wall “mass”, and to review the common corrective surgical procedures. Congenital chest wall deformities are caused by anomalies of chest wall growth, leading to sternal depression or protrusion, or are related to failure of normal spine or rib development. Cross-sectional imaging allows appreciation not only of the involved structures but also assessment of the degree of displacement or deformity of adjacent but otherwise normal structures and differentiation between anatomical deformity and neoplasia. In some cases, CT is also useful for surgical planning. The use of three-dimensional reconstructions, utilizing a low-dose technique, provides important information for the surgeon to discuss the nature of anatomical abnormalities and planned corrections with the patient and often with their parents. In this pictorial essay, we discuss the radiological features of the commonest congenital chest wall deformities and illustrate pre- and post-surgical appearances for those undergoing surgical correction. PMID:26916279
Fusion of local and global detection systems to detect tuberculosis in chest radiographs.
Hogeweg, Laurens; Mol, Christian; de Jong, Pim A; Dawson, Rodney; Ayles, Helen; van Ginneken, Bramin
2010-01-01
Automatic detection of tuberculosis (TB) on chest radiographs is a difficult problem because of the diverse presentation of the disease. A combination of detection systems for abnormalities and normal anatomy is used to improve detection performance. A textural abnormality detection system operating at the pixel level is combined with a clavicle detection system to suppress false positive responses. The output of a shape abnormality detection system operating at the image level is combined in a next step to further improve performance by reducing false negatives. Strategies for combining systems based on serial and parallel configurations were evaluated using the minimum, maximum, product, and mean probability combination rules. The performance of TB detection increased, as measured using the area under the ROC curve, from 0.67 for the textural abnormality detection system alone to 0.86 when the three systems were combined. The best result was achieved using the sum and product rule in a parallel combination of outputs.
Baqué, Lorraine
2017-01-01
This study sought to investigate stress production in Spanish by patients with Broca's (BA) and conduction aphasia (CA) as compared to controls. Our objectives were to assess whether: a) there were many abnormal acoustic correlates of stress as produced by patients, b) these abnormalities had a phonetic component and c) ability for articulatory compensation for stress marking was preserved. The results showed abnormal acoustic values in both BA and CA's productions, affecting not only duration but also F0 and intensity cues, and an interaction effect of stress pattern and duration on intensity cubes in BA, but not in CA or controls. The results are interpreted as deriving from two different underlying phenomena: in BA, a compensatory use of intensity as a stress cue in order to avoid 'equal stress'; in CA, related to either a 'subtle phonetic deficit' involving abnormal stress acoustic cue-processing or to 'clear-speech' effects.
Hsiao, Elaine Y; McBride, Sara W; Hsien, Sophia; Sharon, Gil; Hyde, Embriette R; McCue, Tyler; Codelli, Julian A; Chow, Janet; Reisman, Sarah E; Petrosino, Joseph F; Patterson, Paul H; Mazmanian, Sarkis K
2013-12-19
Neurodevelopmental disorders, including autism spectrum disorder (ASD), are defined by core behavioral impairments; however, subsets of individuals display a spectrum of gastrointestinal (GI) abnormalities. We demonstrate GI barrier defects and microbiota alterations in the maternal immune activation (MIA) mouse model that is known to display features of ASD. Oral treatment of MIA offspring with the human commensal Bacteroides fragilis corrects gut permeability, alters microbial composition, and ameliorates defects in communicative, stereotypic, anxiety-like and sensorimotor behaviors. MIA offspring display an altered serum metabolomic profile, and B. fragilis modulates levels of several metabolites. Treating naive mice with a metabolite that is increased by MIA and restored by B. fragilis causes certain behavioral abnormalities, suggesting that gut bacterial effects on the host metabolome impact behavior. Taken together, these findings support a gut-microbiome-brain connection in a mouse model of ASD and identify a potential probiotic therapy for GI and particular behavioral symptoms in human neurodevelopmental disorders. Copyright © 2013 Elsevier Inc. All rights reserved.
Ataxia with isolated vitamin E deficiency in four siblings.
Shorer, Z; Parvari, R; Bril, G; Sela, B A; Moses, S
1996-11-01
We describe 4 siblings of a consanguineous Bedouin family with Friedreich ataxia phenotype in whom low serum vitamin E levels without other indicators of fat malabsorption were detected. Although age of onset and some of the clinical features were alike in all 4 patients, the electrophysiological parameters were markedly abnormal in 2, but normal in the other 2. Erythrocytes revealed both membranous and intracellular evidence of oxidative damage. The mutations described in other families with ataxia with isolated vitamin E deficiency were not detectable, nor was an abnormal single-stranded conformation polymorphism pattern apparent in the three exons at the 3' region of the gene. Vitamin E administration in pharmacological doses improved the neurological condition in 2 patients and also corrected some of the patients' erythrocyte cell abnormalities. The finding of vitamin E deficiency in other cases of Friedreich ataxia phenotype may allow treatment at an early stage of the disease, when large dose Vitamin E therapy may reverse the neurological lesions.
Miller, Alexander D; Young, Michael C; DeMott, Megan C; Ly, Binh T; Clark, Richard F
2010-08-01
Recurrent signs and symptoms after initial treatment and control of coagulopathy and thrombocytopenia after American pit viper (crotaline) envenomations have been previously described in patients treated with Crotalidae polyvalent immune Fab antivenom (FabAV). The significance and necessity of treatment of these recurrent abnormalities are uncertain. Our goal was to further characterize recurrent coagulopathy or thrombocytopenia in pediatric patients. All cases presenting to our Toxicology Consult Service, which covers 6 hospitals in a metropolitan area, from May 2007 to April 2008 with recurrent coagulopathy after initial control with FabAV were included and retrospectively reviewed. Four cases of pediatric patients are presented who presented with recurrent coagulopathy and/or thrombocytopenia after initial control with FabAV. The patients were all treated with delayed administration of FabAV with variable results. Blood products administered without concurrent FabAV were of limited use. The laboratory abnormalities took up to 18 days to resolve in one case. One patient developed hemodynamically significant spontaneous bleeding. The cases presented here suggest administration of FabAV may correct delayed coagulopathy associated with crotaline envenomations. The first 3 cases illustrate that in the face of severe derangements in laboratory values, most envenomated patients treated with FabAV do not develop significant bleeding. These cases may respond to additional antivenom alone. However, case 4 illustrates that hemodynamically significant spontaneous bleeding can occur. Until more data are available, readministration of FabAV is a reasonable first-line therapy for delayed coagulopathy associated with crotaline envenomations.
ERIC Educational Resources Information Center
Pereira, Valerie J.; Sell, Debbie; Tuomainen, Jyrki
2013-01-01
Background: Abnormal facial growth is a well-known sequelae of cleft lip and palate (CLP) resulting in maxillary retrusion and a class III malocclusion. In 10-50% of cases, surgical correction involving advancement of the maxilla typically by osteotomy methods is required and normally undertaken in adolescence when facial growth is complete.…
ERIC Educational Resources Information Center
Shih, Ching-Hsiang; Shih, Ching-Tien; Chu, Chiung-Ling
2010-01-01
The latest researches adopted software technology turning the Nintendo Wii Balance Board into a high performance change of standing posture (CSP) detector, and assessed whether two persons with multiple disabilities would be able to control environmental stimulation using body swing (changing standing posture). This study extends Wii Balance Board…
Melanopsin Polymorphisms in Seasonal Affective Disorder
2005-01-01
Affective Disorder and Melanopsin Pigmentosa (RP), which is a disease characterized by retinal degeneration. Melanopsin is structurally similar to all...abnormal intradiscal disulfide bond in misfolded retinitis pigmentosa mutants. Proceedings of the National Academy of Science U S A, 98(9), p4872-4876...in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa
Neurological and Neurosurgical Conditions Associated with Aviation Safety.
1981-02-01
to cerebrovascular disease may occur suddenly without warning. Residual disability commonly results, and the physical or intellectual impairment may...and that abnormality were corrected, then the judgment concerning flying status would depend on whether there is physical or intellectual impairment of...associated hypertension is controlled, then recurrence is rare, and judgment concerning flying status should be based on residual physical or
Visual functions of commercial drivers in relation to road accidents in Nigeria
Oladehinde, M. K.; Adeoye, A. O.; Adegbehingbe, B. O.; Onakoya, A. O.
2007-01-01
Objective: To determine the effects of the visual functions on the occurrence of road traffic accidents (RTA) amongst commercial drivers in Ife central local government area (LGA) of Osun state of Nigeria. Design: A cross-sectional study. Settings: Four major motor parks located at Ife Central LGA. Materials and Methods: Of the estimated 270 commercial drivers in the four major parks of the LGA, 215 consecutive drivers were interviewed and had their eyes examined. Structured questionnaires were administered by an ophthalmologist. Results: The prevalence of visual impairment (visual acuity < 6/18) in the better eye without correction was 3.3% ± 2.4 and there was a significant association between uncorrected visual acuity impairment in the better eye and RTA (P = 0.0152). Refractive error was seen in 8.4% of the drivers, but none of these wear corrective glasses. Visual field defect, abnormal stereopsis and color vision impairment did not have any significant association with RTA. Conclusion: Poor visual acuity is strongly associated with RTA amongst Nigerian commercial drivers as opposed to visual field defect, abnormal color vision and stereopsis. A significant proportion of visual impairment was due to uncorrected refractive errors. PMID:21938219
Anterior Inferior Iliac Spine (AIIS) and Subspine Hip Impingement.
Carton, Patrick; Filan, David
2016-01-01
Abnormal morphology of the anterior inferior iliac spine (AIIS) and the subspine region of the acetabular rim are increasingly being recognised as a source of symptomatic extra-articular hip impingement. This review article aims to highlight important differences in the pathogenesis, clinical presentation and management of extra-articular hip impingement from both the AIIS and subspine bony regions, and the outcome following surgical intervention. A literature review was undertaken to examine the supporting evidence for AIIS and subspine hip impingement. A narrative account of the Author's professional experience in this area, including operative technique for arthroscopic correction, is also presented. Abnormal morphology of the AIIS and subspine region has been classified using cadaveric, radiological and arthroscopic means; the clinical presentation and operative treatment has been documented in several case series studies. Dual pathology is often present - recognition and treatment of both intra- and extra-articular components are necessary for good postoperative outcome. AIIS and sub-spine hip impingement should be considered as distinct pathological entities, which may also co-exist. Symptom relief can be expected following arthroscopic deformity correction with the treatment of concomitant intra-articular pathology. Failure to recognise and treat the extra-articular component may affect postoperative outcome. V.
Improvement of automatic hemorrhage detection methods using brightness correction on fundus images
NASA Astrophysics Data System (ADS)
Hatanaka, Yuji; Nakagawa, Toshiaki; Hayashi, Yoshinori; Kakogawa, Masakatsu; Sawada, Akira; Kawase, Kazuhide; Hara, Takeshi; Fujita, Hiroshi
2008-03-01
We have been developing several automated methods for detecting abnormalities in fundus images. The purpose of this study is to improve our automated hemorrhage detection method to help diagnose diabetic retinopathy. We propose a new method for preprocessing and false positive elimination in the present study. The brightness of the fundus image was changed by the nonlinear curve with brightness values of the hue saturation value (HSV) space. In order to emphasize brown regions, gamma correction was performed on each red, green, and blue-bit image. Subsequently, the histograms of each red, blue, and blue-bit image were extended. After that, the hemorrhage candidates were detected. The brown regions indicated hemorrhages and blood vessels and their candidates were detected using density analysis. We removed the large candidates such as blood vessels. Finally, false positives were removed by using a 45-feature analysis. To evaluate the new method for the detection of hemorrhages, we examined 125 fundus images, including 35 images with hemorrhages and 90 normal images. The sensitivity and specificity for the detection of abnormal cases was were 80% and 88%, respectively. These results indicate that the new method may effectively improve the performance of our computer-aided diagnosis system for hemorrhages.
Thalamic Atrophy Contributes to Low Slow Wave Sleep in Neuromyelitis Optica Spectrum Disorder.
Su, Lei; Han, Yujuan; Xue, Rong; Wood, Kristofer; Shi, Fu-Dong; Liu, Yaou; Fu, Ying
2016-12-01
Slow wave sleep abnormality has been reported in neuromyelitis optica spectrum disorder (NMOSD), but mechanism for such abnormality is unknown. To determine the structural defects in the brain that account for the decrease of slow wave sleep in NMOSD patients. Thirty-three NMOSD patients and 18 matched healthy controls (HC) were enrolled. Polysomnography was used to monitor slow wave sleep and three-dimensional T1-weighted MRIs were obtained to assess the alterations of grey matter volume. The percentage of deep slow wave sleep decreased in 93% NMOSD patients. Compared to HC, a reduction of grey matter volume was found in the bilateral thalamus of patients with a lower percentage of slow wave sleep (FWE corrected at cluster-level, p < 0.05, cluster size > 400 voxels). Furthermore, the right thalamic fraction was positively correlated with the decrease in the percentage of slow wave sleep in NMOSD patients (p < 0.05, FDR corrected, cluster size > 200 voxels). Our study identified that thalamic atrophy is associated with the decrease of slow wave sleep in NMOSD patients. Further studies should evaluate whether neurotransmitters or hormones which stem from thalamus are involved in the decrease of slow wave sleep.
Cook, Sharon A; Rosser, Robert; Toone, Helen; James, M Ian; Salmon, Peter
2006-01-01
Elective cosmetic surgery is expanding in the UK in both the public and private sectors. Because resources are constrained, many cosmetic procedures are being excluded within the National Health Service. If guidelines on who can receive such surgery are to be evidence-based, information is needed about the level of dysfunction in patients referred for elective surgery and whether this is related to their degree of physical abnormality. Consecutive patients referred to a regional plastic surgery and burns unit for assessment for elective cosmetic surgery completed standardised measures of physical and psychosocial dysfunction, and indicated their perception of the degree of their abnormality and their preoccupation with it. We distinguished between patients referred for physical reasons or appearance reasons only, and compared levels of physical and psychosocial dysfunction in each with published values for community and clinical samples. Surgeons indicated patients' degree of objective abnormality, and we identified the relationship of dysfunction with perceived and objective abnormality and preoccupation. Whether patients sought surgery for physical or appearance reasons, physical function was normal. Those seeking surgery for appearance reasons only had moderate psychosocial dysfunction, but were not as impaired as clinical groups with psychological problems. Patients seeking the correction of minor skin lesions for purely appearance reasons reported excellent physical and psychosocial function. Level of function was related (negatively) to patients' preoccupation with abnormality rather than to their perceived or objective abnormality. In general, patients referred for elective cosmetic surgery did not present with significant levels of dysfunction. Moreover, levels of functioning were related to preoccupation rather than to objective abnormality. Therefore, for most patients, whether surgical treatment is generally appropriate is questionable. Future guidelines must seek to identify the small minority who do have a clinical need for surgery.
Hajduk, Piotr; Sato, Hideaki; Puri, Prem; Murphy, Paula
2011-01-01
Oesophageal atresia (OA) and tracheooesophageal fistula (TOF) are relatively common human congenital malformations of the foregut where the oesophagus does not connect with the stomach and there is an abnormal connection between the stomach and the respiratory tract. They require immediate corrective surgery and have an impact on the future health of the individual. These abnormalities are mimicked by exposure of rat and mouse embryos in utero to the drug adriamycin. The causes of OA/TOF during human development are not known, however a number of mouse mutants where different signalling pathways are directly affected, show similar abnormalities, implicating multiple and complex signalling mechanisms. The similarities in developmental outcome seen in human infants and in the adriamycin treated mouse model underline the potential of this model to unravel the early embryological events and further our understanding of the processes disturbed, leading to such abnormalities. Here we report a systematic study of the foregut and adjacent tissues in embryos treated with adriamycin at E7 and E8 and analysed between E9 and E12, comparing morphology in 3D in 149 specimens. We describe a spectrum of 8 defects, the most common of which is ventral displacement and branching of the notochord (in 94% of embryos at E10) and a close spatial correspondence between the site of notochord branching and defects of the foregut. In addition gene expression analysis shows altered dorso-ventral foregut patterning in the vicinity of notochord branches. This study shows a number of features of the adriamycin mouse model not previously reported, implicates the notochord as a primary site of disturbance in such abnormalities and underlines the importance of the model to further address the mechanistic basis of foregut congenital abnormalities.
Hajduk, Piotr; Sato, Hideaki; Puri, Prem; Murphy, Paula
2011-01-01
Oesophageal atresia (OA) and tracheooesophageal fistula (TOF) are relatively common human congenital malformations of the foregut where the oesophagus does not connect with the stomach and there is an abnormal connection between the stomach and the respiratory tract. They require immediate corrective surgery and have an impact on the future health of the individual. These abnormalities are mimicked by exposure of rat and mouse embryos in utero to the drug adriamycin. The causes of OA/TOF during human development are not known, however a number of mouse mutants where different signalling pathways are directly affected, show similar abnormalities, implicating multiple and complex signalling mechanisms. The similarities in developmental outcome seen in human infants and in the adriamycin treated mouse model underline the potential of this model to unravel the early embryological events and further our understanding of the processes disturbed, leading to such abnormalities. Here we report a systematic study of the foregut and adjacent tissues in embryos treated with adriamycin at E7 and E8 and analysed between E9 and E12, comparing morphology in 3D in 149 specimens. We describe a spectrum of 8 defects, the most common of which is ventral displacement and branching of the notochord (in 94% of embryos at E10) and a close spatial correspondence between the site of notochord branching and defects of the foregut. In addition gene expression analysis shows altered dorso-ventral foregut patterning in the vicinity of notochord branches. This study shows a number of features of the adriamycin mouse model not previously reported, implicates the notochord as a primary site of disturbance in such abnormalities and underlines the importance of the model to further address the mechanistic basis of foregut congenital abnormalities. PMID:22132119
DTI-measured white matter abnormalities in adolescents with Conduct Disorder
Haney-Caron, Emily; Caprihan, Arvind; Stevens, Michael C.
2013-01-01
Emerging research suggests that antisocial behavior in youth is linked to abnormal brain white matter microstructure, but the extent of such anatomical connectivity abnormalities remain largely untested because previous Conduct Disorder (CD) studies typically have selectively focused on specific frontotemporal tracts. This study aimed to replicate and extend previous frontotemporal diffusion tensor imaging (DTI) findings to determine whether noncomorbid CD adolescents have white matter microstructural abnormalities in major white matter tracts across the whole brain. Seventeen CD-diagnosed adolescents recruited from the community were compared to a group of 24 non-CD youth which did not differ in average age (12–18) or gender proportion. Tract-based spatial statistics (TBSS) fractional anisotropy (FA), axial diffusivity (AD), and radial diffusivity (RD) measurements were compared between groups using FSL nonparametric two-sample t test, clusterwise whole-brain corrected, p<.05. CD FA and AD deficits were widespread, but unrelated to gender, verbal ability, or CD age of onset. CD adolescents had significantly lower FA and AD values in frontal lobe and temporal lobe regions, including frontal lobe anterior/superior corona radiata, and inferior longitudinal and fronto-occpital fasciculi passing through the temporal lobe. The magnitude of several CD FA deficits was associated with number of CD symptoms. Because AD, but not RD, differed between study groups, abnormalities of axonal microstructure in CD rather than myelination are suggested. This study provides evidence that adolescent antisocial disorder is linked to abnormal white matter microstructure in more than just the uncinate fasciulcus as identified in previous DTI studies, or frontotemporal brain structures as suggested by functional neuroimaging studies. Instead, neurobiological risk specific to antisociality in adolescence is linked to microstructural abnormality in numerous long-range white matter connections among many diverse different brain regions. PMID:24139595
Cerebellar Influence on Motor Cortex Plasticity: Behavioral Implications for Parkinson’s Disease
Kishore, Asha; Meunier, Sabine; Popa, Traian
2014-01-01
Normal motor behavior involves the creation of appropriate activity patterns across motor networks, enabling firing synchrony, synaptic integration, and normal functioning of these networks. Strong topography-specific connections among the basal ganglia, cerebellum, and their projections to overlapping areas in the motor cortices suggest that these networks could influence each other’s plastic responses and functions. The defective striatal signaling in Parkinson’s disease (PD) could therefore lead to abnormal oscillatory activity and aberrant plasticity at multiple levels within the interlinked motor networks. Normal striatal dopaminergic signaling and cerebellar sensory processing functions influence the scaling and topographic specificity of M1 plasticity. Both these functions are abnormal in PD and appear to contribute to the abnormal M1 plasticity. Defective motor map plasticity and topographic specificity within M1 could lead to incorrect muscle synergies, which could manifest as abnormal or undesired movements, and as abnormal motor learning in PD. We propose that the loss of M1 plasticity in PD reflects a loss of co-ordination among the basal ganglia, cerebellar, and cortical inputs which translates to an abnormal plasticity of motor maps within M1 and eventually to some of the motor signs of PD. The initial benefits of dopamine replacement therapy on M1 plasticity and motor signs are lost during the progressive course of disease. Levodopa-induced dyskinesias in patients with advanced PD is linked to a loss of M1 sensorimotor plasticity and the attenuation of dyskinesias by cerebellar inhibitory stimulation is associated with restoration of M1 plasticity. Complimentary interventions should target reestablishing physiological communication between the striatal and cerebellar circuits, and within striato-cerebellar loop. This may facilitate correct motor synergies and reduce abnormal movements in PD. PMID:24834063
El Ters, N M; Vesoulis, Z A; Liao, S M; Smyser, C D; Mathur, A M
2017-08-01
To evaluate the association between qualitative and quantitative amplitude-integrated EEG (aEEG) measures at term equivalent age (TEA) and brain injury on magnetic resonance imaging (MRI) in preterm infants. A cohort of premature infants born at <30 weeks of gestation and with moderate-to-severe MRI injury on a TEA MRI scan was identified. A contemporaneous group of gestational age-matched control infants also born at <30 weeks of gestation with none/mild injury on MRI was also recruited. Quantitative aEEG measures, including maximum and minimum amplitudes, bandwidth span and spectral edge frequency (SEF 90 ), were calculated using an offline software package. The aEEG recordings were qualitatively scored using the Burdjalov system. MRI scans, performed on the same day as aEEG, occurred at a mean postmenstrual age of 38.0 (range 37 to 42) weeks and were scored for abnormality in a blinded manner using an established MRI scoring system. Twenty-eight (46.7%) infants had a normal MRI or mild brain abnormality, while 32 (53.3%) infants had moderate-to-severe brain abnormality. Univariate regression analysis demonstrated an association between severity of brain abnormality and quantitative measures of left and right SEF 90 and bandwidth span (β=-0.38, -0.40 and 0.30, respectively) and qualitative measures of cyclicity, continuity and total Burdjalov score (β=-0.10, -0.14 and -0.12, respectively). After correcting for confounding variables, the relationship between MRI abnormality score and aEEG measures of SEF 90 , bandwidth span and Burdjalov score remained significant. Brain abnormalities on MRI at TEA in premature infants are associated with abnormalities on term aEEG measures, suggesting that anatomical brain injury may contribute to delay in functional brain maturation as assessed using aEEG.
Chorna, Olena; Solomon, Jessica E; Slaughter, James C; Stark, Ann R; Maitre, Nathalie L
2014-11-01
Sensory experience is the basis for learning in infancy. In older children, abnormal sensory reactivity is associated with behavioural and developmental disorders. We hypothesised that in preterm infants, abnormal sensory reactivity during infancy would be associated with perinatal characteristics and correlate with 2-year neurodevelopmental outcomes. We conducted a prospective observational study of infants with birth weight ≤1500 g using the Test of Sensory Function in Infants (TSFI) in the first year. Infants with gestational age ≤30 weeks were tested with the Bayley Scales of Infant and Toddler Development III (BSID III) at 24 months. Of the 72 participants evaluated at 4-12 months corrected age (median 8 months), 59 (82%) had a least one TSFI score concerning for abnormal sensory reactivity. Lower gestational age was associated with abnormal reactivity to deep pressure and vestibular stimulation (p<0.001). Poor ocular-motor control predicted worse cognitive and motor scores in early childhood (OR 16.7; p=0.004), but was tightly correlated to the presence of severe white matter injury. Poor adaptive motor function in response to tactile stimuli predicted worse BSID III motor (p=0.01) and language scores (p=0.04) at 2 years, even after adjusting for confounders. Abnormal sensory reactivity is common in preterm infants; is associated with immaturity at birth, severe white matter injury and lower primary caregiver education; and predicts neurodevelopmental delays. Early identification of abnormal sensory reactivity of very preterm infants may promote parental support and education and may facilitate improved neurodevelopment. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Rodbard, Helena W; Schnell, Oliver; Unger, Jeffrey; Rees, Christen; Amstutz, Linda; Parkin, Christopher G; Jelsovsky, Zhihong; Wegmann, Nathan; Axel-Schweitzer, Matthias; Wagner, Robin S
2012-04-01
We evaluated the impact of an automated decision support tool (DST) on clinicians' ability to identify glycemic abnormalities in structured self-monitoring of blood glucose (SMBG) data and then make appropriate therapeutic changes based on the glycemic patterns observed. In this prospective, randomized, controlled, multicenter study, 288 clinicians (39.6% family practice physicians, 37.9% general internal medicine physicians, and 22.6% nurse practitioners) were randomized to structured SMBG alone (STG; n = 72); structured SMBG with DST (DST; n = 72); structured SMBG with an educational DVD (DVD; n = 72); and structured SMBG with DST and the educational DVD (DST+DVD; n = 72). Clinicians analyzed 30 patient cases (type 2 diabetes), identified the primary abnormality, and selected the most appropriate therapy. A total of 222 clinicians completed all 30 patient cases with no major protocol deviations. Significantly more DST, DVD, and DST+DVD clinicians correctly identified the glycemic abnormality and selected the most appropriate therapeutic option compared with STG clinicians: 49, 51, and 55%, respectively, vs. 33% (all P < 0.0001) with no significant differences among DST, DVD, and DST+DVD clinicians. Use of structured SMBG, combined with the DST, the educational DVD, or both, enhances clinicians' ability to correctly identify significant glycemic patterns and make appropriate therapeutic decisions to address those patterns. Structured testing interventions using either the educational DVD or the DST are equally effective in improving data interpretation and utilization. The DST provides a viable alternative when comprehensive education is not feasible, and it may be integrated into medical practices with minimal training.
Piper, Rory J; Yoong, Michael M; Pujar, Suresh; Chin, Richard F
2014-01-01
Background Correcting volumetric measurements of brain structures for intracranial volume (ICV) is important in comparing volumes across subjects with different ICV. The aim of this study was to investigate whether intracranial area (ICA) reliably predicts actual ICV in a healthy pediatric cohort and in children with convulsive status epilepticus (CSE). Methods T1-weighted volumetric MRI was performed on 20 healthy children (control group), 10 with CSE with structurally normal MRI (CSE/MR-), and 12 with CSE with structurally abnormal MRI (CSE/MR+). ICA, using a mid-sagittal slice, and the actual ICV were measured. Results A high Spearman correlation was found between the ICA and ICV measurements in the control (r = 0.96; P < 0.0001), CSE/MR− (r = 0.93; P = 0.0003), and CSE/MR+ (r = 0.94; P < 0.0001) groups. On comparison of predicted and actual ICV, there was no significant difference in the CSE/MR− group (P = 0.77). However, the comparison between predicted and actual ICV was significantly different in the CSE/MR+ (P = 0.001) group. Our Bland–Altman plot showed that the ICA method consistently overestimated ICV in children in the CSE/MR+ group, especially in those with small ICV or widespread structural abnormalities. Conclusions After further validation, ICA measurement may be a reliable alternative to measuring actual ICV when correcting volume measurements for ICV, even in children with localized MRI abnormalities. Caution should be applied when the method is used in children with small ICV and those with multilobar brain pathology. PMID:25365798
Minimal T-wave representation and its use in the assessment of drug arrhythmogenicity.
Shakibfar, Saeed; Graff, Claus; Kanters, Jørgen K; Nielsen, Jimmi; Schmidt, Samuel; Struijk, Johannes J
2017-05-01
Recently, numerous models and techniques have been developed for analyzing and extracting features from the T wave which could be used as biomarkers for drug-induced abnormalities. The majority of these techniques and algorithms use features that determine readily apparent characteristics of the T wave, such as duration, area, amplitude, and slopes. In the present work the T wave was down-sampled to a minimal rate, such that a good reconstruction was still possible. The entire T wave was then used as a feature vector to assess drug-induced repolarization effects. The ability of the samples or combinations of samples obtained from the minimal T-wave representation to correctly classify a group of subjects before and after receiving d,l-sotalol 160 mg and 320 mg was evaluated using a linear discriminant analysis (LDA). The results showed that a combination of eight samples from the minimal T-wave representation can be used to identify normal from abnormal repolarization significantly better compared to the heart rate-corrected QT interval (QTc). It was further indicated that the interval from the peak of the T wave to the end of the T wave (Tpe) becomes relatively shorter after I K r inhibition by d,l-sotalol and that the most pronounced repolarization changes were present in the ascending segment of the minimal T-wave representation. The minimal T-wave representation can potentially be used as a new tool to identify normal from abnormal repolarization in drug safety studies. © 2016 Wiley Periodicals, Inc.
Einstein, Daniel R.; Del Pin, Facundo; Jiao, Xiangmin; Kuprat, Andrew P.; Carson, James P.; Kunzelman, Karyn S.; Cochran, Richard P.; Guccione, Julius M.; Ratcliffe, Mark B.
2009-01-01
SUMMARY The remodeling that occurs after a posterolateral myocardial infarction can alter mitral valve function by creating conformational abnormalities in the mitral annulus and in the posteromedial papillary muscle, leading to mitral regurgitation (MR). It is generally assumed that this remodeling is caused by a volume load and is mediated by an increase in diastolic wall stress. Thus, mitral regurgitation can be both the cause and effect of an abnormal cardiac stress environment. Computational modeling of ischemic MR and its surgical correction is attractive because it enables an examination of whether a given intervention addresses the correction of regurgitation (fluid-flow) at the cost of abnormal tissue stress. This is significant because the negative effects of an increased wall stress due to the intervention will only be evident over time. However, a meaningful fluid-structure interaction model of the left heart is not trivial; it requires a careful characterization of the in-vivo cardiac geometry, tissue parameterization though inverse analysis, a robust coupled solver that handles collapsing Lagrangian interfaces, automatic grid-generation algorithms that are capable of accurately discretizing the cardiac geometry, innovations in image analysis, competent and efficient constitutive models and an understanding of the spatial organization of tissue microstructure. In this manuscript, we profile our work toward a comprehensive fluid-structure interaction model of the left heart by reviewing our early work, presenting our current work and laying out our future work in four broad categories: data collection, geometry, fluid-structure interaction and validation. PMID:20454531
Sajan, Mini P; Hansen, Barbara C; Higgs, Margaret G; Kahn, C Ron; Braun, Ursula; Leitges, Michael; Park, Collin R; Diamond, David M; Farese, Robert V
2018-01-01
Hyperinsulinemia activates brain Akt and PKC-λ/ι and increases Aβ 1-40/42 and phospho-tau in insulin-resistant animals. Here, we examined underlying mechanisms in mice, neuronal cells, and mouse hippocampal slices. Like Aβ 1-40/42 , β-secretase activity was increased in insulin-resistant mice and monkeys. In insulin-resistant mice, inhibition of hepatic PKC-λ/ι sufficient to correct hepatic abnormalities and hyperinsulinemia simultaneously reversed increases in Akt, atypical protein kinase C (aPKC), β-secretase, and Aβ 1-40/42 , and restored acute Akt activation. However, 2 aPKC inhibitors additionally blocked insulin's ability to activate brain PKC-λ/ι and thereby increase β-secretase and Aβ 1-40/42 . Furthermore, direct blockade of brain aPKC simultaneously corrected an impairment in novel object recognition in high-fat-fed insulin-resistant mice. In neuronal cells and/or mouse hippocampal slices, PKC-ι/λ activation by insulin, metformin, or expression of constitutive PKC-ι provoked increases in β-secretase, Aβ 1-40/42 , and phospho-thr-231-tau that were blocked by various PKC-λ/ι inhibitors, but not by an Akt inhibitor. PKC-λ/ι provokes increases in brain β-secretase, Aβ 1-40/42 , and phospho-thr-231-tau. Excessive signaling via PKC-λ/ι may link hyperinsulinemia and other PKC-λ/ι activators to pathological and functional abnormalities in Alzheimer's disease. Published by Elsevier Inc.
Federal Register 2010, 2011, 2012, 2013, 2014
2010-02-22
... a final rule under section 104(d) of the Consumer Product Safety Improvement Act of 2008 (``CPSIA... CONSUMER PRODUCT SAFETY COMMISSION 16 CFR Part 1130 Requirements for Consumer Registration of Durable Infant or Toddler Products; Correction AGENCY: Consumer Product Safety Commission. ACTION: Final...
Sudhakar, S; Porcelvan, S; Francis, T.G. Tilak; Rathnamala, D; Radhakrishnan, R
2017-01-01
Introduction The postural adaptation is very common now a days in school going children, office desk oriented job, computer users and frequent mobile users, and in all major industrial workers. Several studies have documented a high incidence of postural abnormalities in a given population; however, methods of postural measurement were poorly defined. The implication of postural pro software to analyse the postural imbalance of upper body dysfunction is very rare and literature studies says that the kinematic changes in particular segment will produce pain/discomfort and thereby lesser productivity of subjects. Aim To evaluate the postural changes in subjects with upper body dysfunction after a corrective exercise strategy using postural analysis software and pectoralis minor muscle length testing. Materials and Methods After explaining the procedure and benefits, informed consent was taken from the participating subjects (age 25-55 years). Subjects with upper body dysfunction were randomly allocated into two groups (each group 30 subjects). The Group–A received the corrective exercise strategy and Group-B received the conventional exercise for eight weeks of study duration (15 reps each exercise, total duration of 40 min; four days/week. Pre and Post posture analysis were analysed using posture pro software along with flexibility of pectoralis minor was assessed using ruler scale method. Results After interpretation of data, both the group showed the postural alteration and pectoralis minor muscle length changes, p-value (p<0.01) of both group showed highly significant changes. But comparing the both groups, the subjects who received the corrective exercise strategy shown more percentage of improvement in posture alteration (56.25%), pectoralis minor muscle length changes (68.69%) than the conventional exercise received subjects in posture alteration (24.86%) and pectoralis minor muscle length changes (21.9%). Conclusion Altered postural changes and pectoralis minor muscle flexibility before and after the corrective exercise strategy evaluated by postural analysis software method shown to be a significant tool in clinical practice, which is easier and reproducible method. PMID:28893030
Matlaga, Brian R; Shah, Ojas D; Assimos, Dean G
2003-01-01
Urinary calculi may be induced by a number of medications used to treat a variety of conditions. These medications may lead to metabolic abnormalities that facilitate the formation of stones. Drugs that induce metabolic calculi include loop diuretics; carbonic anhydrase inhibitors; and laxatives, when abused. Correcting the metabolic abnormality may eliminate or dramatically attenuate stone activity. Urinary calculi can also be induced by medications when the drugs crystallize and become the primary component of the stones. In this case, urinary supersaturation of the agent may promote formation of the calculi. Drugs that induce calculi via this process include magnesium trisilicate; ciprofloxacin; sulfa medications; triamterene; indinavir; and ephedrine, alone or in combination with guaifenesin. When this situation occurs, discontinuation of the medication is usually necessary. PMID:16985842
Pentalogy of Cantrell: report of a case with consanguineous parents.
Pachajoa, Harry; Barragán, Arelis; Potes, Angela; Torres, Javier; Isaza, Carolina
2010-01-01
Pentalogy of Cantrell is a syndrome evidencing five anomalies: a midline, upper abdominal wall abnormality; lower sternal defect; anterior diaphragmatic defect; diaphragmatic pericardial defect, and congenital abnormalities of the heart. Its prevalence is one in every 65,000 live births and a survival rate that is low if the fall the five defects are present or the gravity of the cardiac anomalies. It may be diagnosed during the first trimester obstetric ultrasound. For postnatal care, emission-computed tomography and magnetic resonance imaging is recommended for a clear definition of the extent of the defect and to design a course of corrective surgery. Herein, a case of pentology of Cantrell is reported for a child offspring of consanguineous parents.
[From conventional cytogenetics to microarrays. Fifty years of Philadelphia chromosome].
Hernández, Jesús M; Granada, Isabel; Solé, Francesc
2011-07-23
In 1960 Ph-chromosome was found associated with the presence of chronic myelogenous leukemia. In these 50 years an increasing number of cytogenetic abnormalities have been found associated with hematological malignancies. The presence of these abnormalities is not only important for the diagnosis of the patient, but it also contributes to the prognosis of patients with leukemia or lymphoma. For this reason the WHO classification of hematological disease has included these studies for the correct characterization of leukemias and lymphomas. In addition, the use of FISH and micromatrix methodologies have refined the genetic lesions present in these malignancies. The cytogenetic changes observed also provide further information in relation to the therapy. Copyright © 2010 Elsevier España, S.L. All rights reserved.
Status, methods and aims of the knee investigations at CR spectrum
NASA Astrophysics Data System (ADS)
Shaulov, S. B.; Bezshapov, S. P.
2013-02-01
Usually it is supposed that the definition of the CR mass composition in knee region is the key to problem of CR spectrum modification in this range. However tens of experiments done for the last half a century, have not decided this problem. The possible causes of fiasco and arguments in favour of necessity to reformulate a method of attack are discussed. It is formulated that the first experimental task now is to solve a more simple problem: is there abnormal CR component in knee field or not. It seams that impossible to formulate correctly more common problem of mass composition without solving of this one. The observational basis is discussed. The hypothesis of strange quark matter is suggested for the abnormal component.
[Pay attention to the corneal epithelial cell dysfunction after cataract surgery].
Sun, Xuguang; Wang, Sen
2015-03-01
Corneal epithelial dysfunction ( CED ) is the abnormality of the regeneration, conjunction, adhesion and immigration of the corneal epithelium cells without the decompensation of the corneal limbal cells. Due to the affection resulting from the systemic problems of patients and the management in the preoperative period, some of the patients at one to two weeks after cataract surgery will present the edema and fluorescein staining of the corneal epithelium. Without correct therapy, the defect of the epithelium, or even persisting ulceration of the cornea will occur. The key points of the management for CED are the early diagnosis and reasonable therapy. We suggest paying special attention to CED in the patients with metabolism diseases, abnormality of the tear film and long-term blepharitis.
van Dijk, Joris D; van Dalen, Jorn A; Mouden, Mohamed; Ottervanger, Jan Paul; Knollema, Siert; Slump, Cornelis H; Jager, Pieter L
2018-04-01
Correction of motion has become feasible on cadmium-zinc-telluride (CZT)-based SPECT cameras during myocardial perfusion imaging (MPI). Our aim was to quantify the motion and to determine the value of automatic correction using commercially available software. We retrospectively included 83 consecutive patients who underwent stress-rest MPI CZT-SPECT and invasive fractional flow reserve (FFR) measurement. Eight-minute stress acquisitions were reformatted into 1.0- and 20-second bins to detect respiratory motion (RM) and patient motion (PM), respectively. RM and PM were quantified and scans were automatically corrected. Total perfusion deficit (TPD) and SPECT interpretation-normal, equivocal, or abnormal-were compared between the noncorrected and corrected scans. Scans with a changed SPECT interpretation were compared with FFR, the reference standard. Average RM was 2.5 ± 0.4 mm and maximal PM was 4.5 ± 1.3 mm. RM correction influenced the diagnostic outcomes in two patients based on TPD changes ≥7% and in nine patients based on changed visual interpretation. In only four of these patients, the changed SPECT interpretation corresponded with FFR measurements. Correction for PM did not influence the diagnostic outcomes. Respiratory motion and patient motion were small. Motion correction did not appear to improve the diagnostic outcome and, hence, the added value seems limited in MPI using CZT-based SPECT cameras.
77 FR 31724 - Production Measurement Documents Incorporated by Reference; Correction
Federal Register 2010, 2011, 2012, 2013, 2014
2012-05-30
... DEPARTMENT OF THE INTERIOR Bureau of Safety and Environmental Enforcement 30 CFR Part 250 [Docket ID: BSEE-2012-0003] RIN 1014-AA01 Production Measurement Documents Incorporated by Reference; Correction AGENCY: Bureau of Safety and Environmental Enforcement (BSEE), Interior. ACTION: Correcting...
Super-emitters in natural gas infrastructure are caused by abnormal process conditions
NASA Astrophysics Data System (ADS)
Zavala-Araiza, Daniel; Alvarez, Ramón A.; Lyon, David R.; Allen, David T.; Marchese, Anthony J.; Zimmerle, Daniel J.; Hamburg, Steven P.
2017-01-01
Effectively mitigating methane emissions from the natural gas supply chain requires addressing the disproportionate influence of high-emitting sources. Here we use a Monte Carlo simulation to aggregate methane emissions from all components on natural gas production sites in the Barnett Shale production region (Texas). Our total emission estimates are two-thirds of those derived from independent site-based measurements. Although some high-emitting operations occur by design (condensate flashing and liquid unloadings), they occur more than an order of magnitude less frequently than required to explain the reported frequency at which high site-based emissions are observed. We conclude that the occurrence of abnormal process conditions (for example, malfunctions upstream of the point of emissions; equipment issues) cause additional emissions that explain the gap between component-based and site-based emissions. Such abnormal conditions can cause a substantial proportion of a site's gas production to be emitted to the atmosphere and are the defining attribute of super-emitting sites.
Bias correction of satellite-based rainfall data
NASA Astrophysics Data System (ADS)
Bhattacharya, Biswa; Solomatine, Dimitri
2015-04-01
Limitation in hydro-meteorological data availability in many catchments limits the possibility of reliable hydrological analyses especially for near-real-time predictions. However, the variety of satellite based and meteorological model products for rainfall provides new opportunities. Often times the accuracy of these rainfall products, when compared to rain gauge measurements, is not impressive. The systematic differences of these rainfall products from gauge observations can be partially compensated by adopting a bias (error) correction. Many of such methods correct the satellite based rainfall data by comparing their mean value to the mean value of rain gauge data. Refined approaches may also first find out a suitable time scale at which different data products are better comparable and then employ a bias correction at that time scale. More elegant methods use quantile-to-quantile bias correction, which however, assumes that the available (often limited) sample size can be useful in comparing probabilities of different rainfall products. Analysis of rainfall data and understanding of the process of its generation reveals that the bias in different rainfall data varies in space and time. The time aspect is sometimes taken into account by considering the seasonality. In this research we have adopted a bias correction approach that takes into account the variation of rainfall in space and time. A clustering based approach is employed in which every new data point (e.g. of Tropical Rainfall Measuring Mission (TRMM)) is first assigned to a specific cluster of that data product and then, by identifying the corresponding cluster of gauge data, the bias correction specific to that cluster is adopted. The presented approach considers the space-time variation of rainfall and as a result the corrected data is more realistic. Keywords: bias correction, rainfall, TRMM, satellite rainfall
NASA Astrophysics Data System (ADS)
Al Azzawi, Dia
Abnormal flight conditions play a major role in aircraft accidents frequently causing loss of control. To ensure aircraft operation safety in all situations, intelligent system monitoring and adaptation must rely on accurately detecting the presence of abnormal conditions as soon as they take place, identifying their root cause(s), estimating their nature and severity, and predicting their impact on the flight envelope. Due to the complexity and multidimensionality of the aircraft system under abnormal conditions, these requirements are extremely difficult to satisfy using existing analytical and/or statistical approaches. Moreover, current methodologies have addressed only isolated classes of abnormal conditions and a reduced number of aircraft dynamic parameters within a limited region of the flight envelope. This research effort aims at developing an integrated and comprehensive framework for the aircraft abnormal conditions detection, identification, and evaluation based on the artificial immune systems paradigm, which has the capability to address the complexity and multidimensionality issues related to aircraft systems. Within the proposed framework, a novel algorithm was developed for the abnormal conditions detection problem and extended to the abnormal conditions identification and evaluation. The algorithm and its extensions were inspired from the functionality of the biological dendritic cells (an important part of the innate immune system) and their interaction with the different components of the adaptive immune system. Immunity-based methodologies for re-assessing the flight envelope at post-failure and predicting the impact of the abnormal conditions on the performance and handling qualities are also proposed and investigated in this study. The generality of the approach makes it applicable to any system. Data for artificial immune system development were collected from flight tests of a supersonic research aircraft within a motion-based flight simulator. The abnormal conditions considered in this work include locked actuators (stabilator, aileron, rudder, and throttle), structural damage of the wing, horizontal tail, and vertical tail, malfunctioning sensors, and reduced engine effectiveness. The results of applying the proposed approach to this wide range of abnormal conditions show its high capability in detecting the abnormal conditions with zero false alarms and very high detection rates, correctly identifying the failed subsystem and evaluating the type and severity of the failure. The results also reveal that the post-failure flight envelope can be reasonably predicted within this framework.
Abnormal Structure–Function Relationship in Spasmodic Dysphonia
Ludlow, Christy L.
2012-01-01
Spasmodic dysphonia (SD) is a primary focal dystonia characterized by involuntary spasms in the laryngeal muscles during speech production. Although recent studies have found abnormal brain function and white matter organization in SD, the extent of gray matter alterations, their structure–function relationships, and correlations with symptoms remain unknown. We compared gray matter volume (GMV) and cortical thickness (CT) in 40 SD patients and 40 controls using voxel-based morphometry and cortical distance estimates. These measures were examined for relationships with blood oxygen level–dependent signal change during symptomatic syllable production in 15 of the same patients. SD patients had increased GMV, CT, and brain activation in key structures of the speech control system, including the laryngeal sensorimotor cortex, inferior frontal gyrus (IFG), superior/middle temporal and supramarginal gyri, and in a structure commonly abnormal in other primary dystonias, the cerebellum. Among these regions, GMV, CT and activation of the IFG and cerebellum showed positive relationships with SD severity, while CT of the IFG correlated with SD duration. The left anterior insula was the only region with decreased CT, which also correlated with SD symptom severity. These findings provide evidence for coupling between structural and functional abnormalities at different levels within the speech production system in SD. PMID:21666131
Konopka, Karl-Heinz; Harbers, Marten; Houghton, Andrea; Kortekaas, Rudie; van Vliet, Andre; Timmerman, Wia; den Boer, Johan A.; Struys, Michel M.R.F.; van Wijhe, Marten
2012-01-01
In patients who experience unilateral chronic pain, abnormal sensory perception at the non-painful side has been reported. Contralateral sensory changes in these patients have been given little attention, possibly because they are regarded as clinically irrelevant. Still, bilateral sensory changes in these patients could become clinically relevant if they challenge the correct identification of their sensory dysfunction in terms of hyperalgesia and allodynia. Therefore, we have used the standardized quantitative sensory testing (QST) protocol of the German Research Network on Neuropathic Pain (DFNS) to investigate somatosensory function at the painful side and the corresponding non-painful side in unilateral neuropathic pain patients using gender- and age-matched healthy volunteers as a reference cohort. Sensory abnormalities were observed across all QST parameters at the painful side, but also, to a lesser extent, at the contralateral, non-painful side. Similar relative distributions regarding sensory loss/gain for non-nociceptive and nociceptive stimuli were found for both sides. Once a sensory abnormality for a QST parameter at the affected side was observed, the prevalence of an abnormality for the same parameter at the non-affected side was as high as 57% (for Pressure Pain Threshold). Our results show that bilateral sensory dysfunction in patients with unilateral neuropathic pain is more rule than exception. Therefore, this phenomenon should be taken into account for appropriate diagnostic evaluation in clinical practice. This is particularly true for mechanical stimuli where the 95% Confidence Interval for the prevalence of sensory abnormalities at the non-painful side ranges between 33% and 50%. PMID:22629414
[Staff certification for mobile blood collection units].
Folléa, G; Bigey, F; Dréno, J; Vives, C; Cazenave, J P
1998-04-01
Training and official acknowledgment of the competence of each staff member are essential to the quality and safety of collected blood products prepared and delivered by a blood transfusion center. A procedure was created to indicate in detail the methods employed to implement such accreditation. Based on individual training according to activity, it defines for each type of activity (secretary, physician, collector, driver) the required theoretical and practical knowledge of his/her position. Accreditation, consisting of assessment of the degree of competence attained in these areas of responsibility, was applied to the members of mobile blood collection teams in 1995. No major deficiency was detected, and this certification was well accepted by the staff. In order to complete this initial accreditation, blood collection abnormalities (inadequate blood volumes, clots or defective welding of tubing) were assessed for each collector individually. Comparison of these abnormalities in qualified nurses and laboratory technicians with a blood collection diploma showed no differences. On the other hand, significantly higher numbers of abnormalities were found in intermittent as compared to regular collectors and in senior as compared to new collectors. The applied corrective measures led to obviation of differences and improvement in performance. In 1996, in the first individual evaluation of medical selection carried out by each physician, discrepancies of one to 20 donors (0.7-14.2%) were observed from one doctor to another in the frequency of elimination of candidates for blood donation after the medical interview. Regular meetings with physicians resulted in reducing these discrepancies to one to 3.1 donors (4.6-14.1%) in 1997. In conclusion, the association of an initial accreditation procedure with an individual follow-up of work quality allowed satisfactory assessment of the training and competence of staff members. This kind of method could be extended to those working in other fields of transfusion medicine.
78 FR 734 - Medical Imaging Drugs Advisory Committee; Notice of Meeting
Federal Register 2010, 2011, 2012, 2013, 2014
2013-01-04
..., LLC. The proposed indication (use) for this product is for magnetic resonance imaging in brain...) to detect and visualize areas with disruption of the blood brain barrier (specialized tissues that help protect the brain) and/or abnormal vascularity (abnormal blood circulation). FDA intends to make...
NASA Astrophysics Data System (ADS)
Zhang, Shengjun; Li, Jiancheng; Jin, Taoyong; Che, Defu
2018-04-01
Marine gravity anomaly derived from satellite altimetry can be computed using either sea surface height or sea surface slope measurements. Here we consider the slope method and evaluate the errors in the slope of the corrections supplied with the Jason-1 geodetic mission data. The slope corrections are divided into three groups based on whether they are small, comparable, or large with respect to the 1 microradian error in the current sea surface slope models. (1) The small and thus negligible corrections include dry tropospheric correction, inverted barometer correction, solid earth tide and geocentric pole tide. (2) The moderately important corrections include wet tropospheric correction, dual-frequency ionospheric correction and sea state bias. The radiometer measurements are more preferred than model values in the geophysical data records for constraining wet tropospheric effect owing to the highly variable water-vapor structure in atmosphere. The items of dual-frequency ionospheric correction and sea state bias should better not be directly added to range observations for obtaining sea surface slopes since their inherent errors may cause abnormal sea surface slopes and along-track smoothing with uniform distribution weight in certain width is an effective strategy for avoiding introducing extra noises. The slopes calculated from radiometer wet tropospheric corrections, and along-track smoothed dual-frequency ionospheric corrections, sea state bias are generally within ±0.5 microradians and no larger than 1 microradians. (3) Ocean tide has the largest influence on obtaining sea surface slopes while most of ocean tide slopes distribute within ±3 microradians. Larger ocean tide slopes mostly occur over marginal and island-surrounding seas, and extra tidal models with better precision or with extending process (e.g. Got-e) are strongly recommended for updating corrections in geophysical data records.
Bazarian, Jeffrey J; Beck, Christopher; Blyth, Brian; von Ahsen, Nicolas; Hasselblatt, Martin
2006-01-01
To validate a correction factor for the extracranial release of the astroglial protein, S-100B, based on concomitant creatine kinase (CK) levels. The CK- S-100B relationship in non-head injured marathon runners was used to derive a correction factor for the extracranial release of S-100B. This factor was then applied to a separate cohort of 96 mild traumatic brain injury (TBI) patients in whom both CK and S-100B levels were measured. Corrected S-100B was compared to uncorrected S-100B for the prediction of initial head CT, three-month headache and three-month post concussive syndrome (PCS). Corrected S-100B resulted in a statistically significant improvement in the prediction of 3-month headache (area under curve [AUC] 0.46 vs 0.52, p=0.02), but not PCS or initial head CT. Using a cutoff that maximizes sensitivity (> or = 90%), corrected S-100B improved the prediction of initial head CT scan (negative predictive value from 75% [95% CI, 2.6%, 67.0%] to 96% [95% CI: 83.5%, 99.8%]). Although S-100B is overall poorly predictive of outcome, a correction factor using CK is a valid means of accounting for extracranial release. By increasing the proportion of mild TBI patients correctly categorized as low risk for abnormal head CT, CK-corrected S100-B can further reduce the number of unnecessary brain CT scans performed after this injury.
9 CFR 417.3 - Corrective actions.
Code of Federal Regulations, 2012 CFR
2012-01-01
... 9 Animals and Animal Products 2 2012-01-01 2012-01-01 false Corrective actions. 417.3 Section 417.3 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE... ANALYSIS AND CRITICAL CONTROL POINT (HACCP) SYSTEMS § 417.3 Corrective actions. (a) The written HACCP plan...
9 CFR 417.3 - Corrective actions.
Code of Federal Regulations, 2013 CFR
2013-01-01
... 9 Animals and Animal Products 2 2013-01-01 2013-01-01 false Corrective actions. 417.3 Section 417.3 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE... ANALYSIS AND CRITICAL CONTROL POINT (HACCP) SYSTEMS § 417.3 Corrective actions. (a) The written HACCP plan...
9 CFR 417.3 - Corrective actions.
Code of Federal Regulations, 2010 CFR
2010-01-01
... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Corrective actions. 417.3 Section 417.3 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE... ANALYSIS AND CRITICAL CONTROL POINT (HACCP) SYSTEMS § 417.3 Corrective actions. (a) The written HACCP plan...
9 CFR 417.3 - Corrective actions.
Code of Federal Regulations, 2014 CFR
2014-01-01
... 9 Animals and Animal Products 2 2014-01-01 2014-01-01 false Corrective actions. 417.3 Section 417.3 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE... ANALYSIS AND CRITICAL CONTROL POINT (HACCP) SYSTEMS § 417.3 Corrective actions. (a) The written HACCP plan...
Kocher, Olivier; Birrane, Gabriel; Tsukamoto, Kosuke; Fenske, Sara; Yesilaltay, Ayce; Pal, Rinku; Daniels, Kathleen; Ladias, John A. A.; Krieger, Monty
2010-01-01
The PDZ1 domain of the four PDZ domain-containing protein PDZK1 has been reported to bind the C terminus of the HDL receptor scavenger receptor class B, type I (SR-BI), and to control hepatic SR-BI expression and function. We generated wild-type (WT) and mutant murine PDZ1 domains, the mutants bearing single amino acid substitutions in their carboxylate binding loop (Lys14-Xaa4-Asn19-Tyr-Gly-Phe-Phe-Leu24), and measured their binding affinity for a 7-residue peptide corresponding to the C terminus of SR-BI (503VLQEAKL509). The Y20A and G21Y substitutions abrogated all binding activity. Surprisingly, binding affinities (Kd) of the K14A and F22A mutants were 3.2 and 4.0 μm, respectively, similar to 2.6 μm measured for the WT PDZ1. To understand these findings, we determined the high resolution structure of WT PDZ1 bound to a 5-residue sequence from the C-terminal SR-BI (505QEAKL509) using x-ray crystallography. In addition, we incorporated the K14A and Y20A substitutions into full-length PDZK1 liver-specific transgenes and expressed them in WT and PDZK1 knock-out mice. In WT mice, the transgenes did not alter endogenous hepatic SR-BI protein expression (intracellular distribution or amount) or lipoprotein metabolism (total plasma cholesterol, lipoprotein size distribution). In PDZK1 knock-out mice, as expected, the K14A mutant behaved like wild-type PDZK1 and completely corrected their hepatic SR-BI and plasma lipoprotein abnormalities. Unexpectedly, the 10–20-fold overexpressed Y20A mutant also substantially, but not completely, corrected these abnormalities. The results suggest that there may be an additional site(s) within PDZK1 that bind(s) SR-BI and mediate(s) productive SR-BI-PDZK1 interaction previously attributed exclusively to the canonical binding of the C-terminal SR-BI to PDZ1. PMID:20739281
DOE Office of Scientific and Technical Information (OSTI.GOV)
O Kocher; G Birrane; K Tsukamoto
2011-12-31
The PDZ1 domain of the four PDZ domain-containing protein PDZK1 has been reported to bind the C terminus of the HDL receptor scavenger receptor class B, type I (SR-BI), and to control hepatic SR-BI expression and function. We generated wild-type (WT) and mutant murine PDZ1 domains, the mutants bearing single amino acid substitutions in their carboxylate binding loop (Lys(14)-Xaa(4)-Asn(19)-Tyr-Gly-Phe-Phe-Leu(24)), and measured their binding affinity for a 7-residue peptide corresponding to the C terminus of SR-BI ((503)VLQEAKL(509)). The Y20A and G21Y substitutions abrogated all binding activity. Surprisingly, binding affinities (K(d)) of the K14A and F22A mutants were 3.2 and 4.0 ?M,more » respectively, similar to 2.6 ?M measured for the WT PDZ1. To understand these findings, we determined the high resolution structure of WT PDZ1 bound to a 5-residue sequence from the C-terminal SR-BI ((505)QEAKL(509)) using x-ray crystallography. In addition, we incorporated the K14A and Y20A substitutions into full-length PDZK1 liver-specific transgenes and expressed them in WT and PDZK1 knock-out mice. In WT mice, the transgenes did not alter endogenous hepatic SR-BI protein expression (intracellular distribution or amount) or lipoprotein metabolism (total plasma cholesterol, lipoprotein size distribution). In PDZK1 knock-out mice, as expected, the K14A mutant behaved like wild-type PDZK1 and completely corrected their hepatic SR-BI and plasma lipoprotein abnormalities. Unexpectedly, the 10-20-fold overexpressed Y20A mutant also substantially, but not completely, corrected these abnormalities. The results suggest that there may be an additional site(s) within PDZK1 that bind(s) SR-BI and mediate(s) productive SR-BI-PDZK1 interaction previously attributed exclusively to the canonical binding of the C-terminal SR-BI to PDZ1.« less
Fluid therapy in vomiting and diarrhea.
Brown, Andrew J; Otto, Cynthia M
2008-05-01
Fluid therapy in the patient with vomiting and diarrhea is essential to correct hypovolemia, dehydration, acid-base imbalance, and serum electrolyte abnormalities. Prediction of acid-base or electrolyte disturbances is difficult; therefore, point of care testing is beneficial to optimize therapy. This article focuses on the pathophysiology and treatment of hypovolemia, dehydration, electrolyte disturbances, and acid-base derangements resulting from and associated with vomiting and diarrhea.
Abnormal pressure in hydrocarbon environments
Law, B.E.; Spencer, C.W.
1998-01-01
Abnormal pressures, pressures above or below hydrostatic pressures, occur on all continents in a wide range of geological conditions. According to a survey of published literature on abnormal pressures, compaction disequilibrium and hydrocarbon generation are the two most commonly cited causes of abnormally high pressure in petroleum provinces. In young (Tertiary) deltaic sequences, compaction disequilibrium is the dominant cause of abnormal pressure. In older (pre-Tertiary) lithified rocks, hydrocarbon generation, aquathermal expansion, and tectonics are most often cited as the causes of abnormal pressure. The association of abnormal pressures with hydrocarbon accumulations is statistically significant. Within abnormally pressured reservoirs, empirical evidence indicates that the bulk of economically recoverable oil and gas occurs in reservoirs with pressure gradients less than 0.75 psi/ft (17.4 kPa/m) and there is very little production potential from reservoirs that exceed 0.85 psi/ft (19.6 kPa/m). Abnormally pressured rocks are also commonly associated with unconventional gas accumulations where the pressuring phase is gas of either a thermal or microbial origin. In underpressured, thermally mature rocks, the affected reservoirs have most often experienced a significant cooling history and probably evolved from an originally overpressured system.
NMDA receptor dysfunction in autism spectrum disorders.
Lee, Eun-Jae; Choi, Su Yeon; Kim, Eunjoon
2015-02-01
Abnormalities and imbalances in neuronal excitatory and inhibitory synapses have been implicated in diverse neuropsychiatric disorders including autism spectrum disorders (ASDs). Increasing evidence indicates that dysfunction of NMDA receptors (NMDARs) at excitatory synapses is associated with ASDs. In support of this, human ASD-associated genetic variations are found in genes encoding NMDAR subunits. Pharmacological enhancement or suppression of NMDAR function ameliorates ASD symptoms in humans. Animal models of ASD display bidirectional NMDAR dysfunction, and correcting this deficit rescues ASD-like behaviors. These findings suggest that deviation of NMDAR function in either direction contributes to the development of ASDs, and that correcting NMDAR dysfunction has therapeutic potential for ASDs. Copyright © 2014 Elsevier Ltd. All rights reserved.
Detection of amblyopia utilizing generated retinal reflexes
NASA Technical Reports Server (NTRS)
Kerr, J. H.; Hay, S. H.
1981-01-01
Investigation confirmed that GRR images can be consistently obtained and that these images contain information required to detect the optical inequality of one eye compared to the fellow eye. Digital analyses, electro-optical analyses, and trained observers were used to evaluate the GRR images. Two and three dimensional plots were made from the digital analyses results. These plotted data greatly enhanced the GRR image content, and it was possible for nontrained observers to correctly identify normal vs abnormal ocular status by viewing the plots. Based upon the criteria of detecting equality or inequality of ocular status of a person's eyes, the trained observer correctly identified the ocular status of 90% of the 232 persons who participated in this program.
27 CFR 19.162 - Correction of permits.
Code of Federal Regulations, 2010 CFR
2010-04-01
... 27 Alcohol, Tobacco Products and Firearms 1 2010-04-01 2010-04-01 false Correction of permits. 19.162 Section 19.162 Alcohol, Tobacco Products and Firearms ALCOHOL AND TOBACCO TAX AND TRADE BUREAU..., on demand of the appropriate TTB officer, immediately return the permit for correction. (Sec. 201...
77 FR 30887 - Amendments to Sterility Test Requirements for Biological Products; Correction
Federal Register 2010, 2011, 2012, 2013, 2014
2012-05-24
... Biological Products; Correction AGENCY: Food and Drug Administration, HHS. ACTION: Final rule, correction... Evaluation and Research (HFM-17), Food and Drug Administration, 1401 Rockville Pike, Suite 200N, Rockville... DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration 21 CFR Parts 600, 610, and...
Phase transition dynamics for hot nuclei
NASA Astrophysics Data System (ADS)
Borderie, B.; Le Neindre, N.; Rivet, M. F.; Désesquelles, P.; Bonnet, E.; Bougault, R.; Chbihi, A.; Dell'Aquila, D.; Fable, Q.; Frankland, J. D.; Galichet, E.; Gruyer, D.; Guinet, D.; La Commara, M.; Lombardo, I.; Lopez, O.; Manduci, L.; Napolitani, P.; Pârlog, M.; Rosato, E.; Roy, R.; St-Onge, P.; Verde, G.; Vient, E.; Vigilante, M.; Wieleczko, J. P.; Indra Collaboration
2018-07-01
An abnormal production of events with almost equal-sized fragments was theoretically proposed as a signature of spinodal instabilities responsible for nuclear multifragmentation in the Fermi energy domain. On the other hand finite size effects are predicted to strongly reduce this abnormal production. High statistics quasifusion hot nuclei produced in central collisions between Xe and Sn isotopes at 32 and 45 A MeV incident energies have been used to definitively establish, through the experimental measurement of charge correlations, the presence of spinodal instabilities. N/Z influence was also studied.
Hedequist, Daniel; Bekelis, Kimon; Emans, John; Proctor, Mark R
2010-02-15
We describe an innovative single-stage reduction and stabilization technique using modern cervical instrumentation. We hypothesis modern instrumentation has made more aggressive surgical corrections possible and has reduced the need for transoral resection of the odontoid and traction reduction in children with basilar invagination. Craniocervical junction abnormalities, including atlantoaxial instability and progressive basilar invagination, are relatively common phenomenon in Down's syndrome patients, and can lead to chronic progressive neurologic deficits, catastrophic injury, and death. This patient population also can be a difficult one in which to perform successful stabilization and fusion. We reviewed the records and films on 2 children with Down's syndrome and atlantoaxial instability who had undergone prior occipital-cervical fusion and then presented with symptomatic progressive basilar invagination due to atlantoaxial displacement. In both cases, the children had progressive symptoms of spinal cord and brain stem compression. Multiple approaches for surgical correction, including preoperative traction and transoral odontoid resection, were considered, but ultimately it was elected to perform a single stage posterior operation. In both patients, we performed fusion takedown, intraoperative realignment with reduction of the basilar invagination, and stabilization using modern occipito-cervical instrumentation. In both children, excellent cranio-cervical realignment was achieved; along with successful fusion and improvement in clinical symptoms. In this article we will discuss the clinical cases and review the background of craniocervical junction abnormalities in Down's syndrome patients. We hypothesis modern instrumentation has made more aggressive surgical corrections possible and has reduced the need for transoral resection of the odontoid and traction reduction in children with basilar invagination.
High-precision GNSS ocean positioning with BeiDou short-message communication
NASA Astrophysics Data System (ADS)
Li, Bofeng; Zhang, Zhiteng; Zang, Nan; Wang, Siyao
2018-04-01
The current popular GNSS RTK technique would be not applicable on ocean due to the limited communication access for transmitting differential corrections. A new technique is proposed for high-precision ocean RTK, referred to as ORTK, where the corrections are transmitted by employing the function of BeiDou satellite short-message communication (SMC). To overcome the limitation of narrow bandwidth of BeiDou SMC, a new strategy of simplifying and encoding corrections is proposed instead of standard differential corrections, which reduces the single-epoch corrections from more than 1000 to less than 300 bytes. To solve the problems of correction delays, cycle slips, blunders and abnormal epochs over ultra-long baseline ORTK, a series of powerful algorithms were designed at the user-end software for achieving the stable and precise kinematic solutions on far ocean applications. The results from two long baselines of 240 and 420 km and real ocean experiments reveal that the kinematic solutions with horizontal accuracy of 5 cm and vertical accuracy of better than 15 cm are achievable by convergence time of 3-10 min. Compared to commercial ocean PPP with satellite telecommunication, ORTK is of much cheaper expense, higher accuracy and shorter convergence. It will be very prospective in many location-based ocean services.
Power corrections to TMD factorization for Z-boson production
Balitsky, I.; Tarasov, A.
2018-05-24
A typical factorization formula for production of a particle with a small transverse momentum in hadron-hadron collisions is given by a convolution of two TMD parton densities with cross section of production of the final particle by the two partons. For practical applications at a given transverse momentum, though, one should estimate at what momenta the power corrections to the TMD factorization formula become essential. In this work, we calculate the first power corrections to TMD factorization formula for Z-boson production and Drell-Yan process in high-energy hadron-hadron collisions. At the leading order in N c power corrections are expressed inmore » terms of leading power TMDs by QCD equations of motion.« less
Power corrections to TMD factorization for Z-boson production
DOE Office of Scientific and Technical Information (OSTI.GOV)
Balitsky, I.; Tarasov, A.
A typical factorization formula for production of a particle with a small transverse momentum in hadron-hadron collisions is given by a convolution of two TMD parton densities with cross section of production of the final particle by the two partons. For practical applications at a given transverse momentum, though, one should estimate at what momenta the power corrections to the TMD factorization formula become essential. In this work, we calculate the first power corrections to TMD factorization formula for Z-boson production and Drell-Yan process in high-energy hadron-hadron collisions. At the leading order in N c power corrections are expressed inmore » terms of leading power TMDs by QCD equations of motion.« less
De Bock, Katrien; Cauwenberghs, Sandra; Carmeliet, Peter
2011-02-01
As a result of excessive production of angiogenic molecules, tumor vessels become abnormal in structure and function. By impairing oxygen delivery, abnormal vessels fuel a vicious cycle of non-productive angiogenesis, which creates a hostile microenvironment from where tumor cells escape through leaky vessels and which renders tumors less responsive to chemoradiation. While anti-angiogenic strategies focused on inhibiting new vessel growth and destroying pre-existing vessels, clinical studies showed modest anti-tumor effects. For many solid tumors, anti-VEGF treatment offers greater clinical benefit when combined with chemotherapy. This is partly due to a normalization of the tumor vasculature, which improves cytotoxic drug delivery and efficacy and offers unprecedented opportunities for anti-cancer treatment. Here, we overview key novel molecular players that induce vessel normalization. Copyright © 2010 Elsevier Ltd. All rights reserved.
Karampetsou, Maria P.; Comte, Denis; Kis-Toth, Katalin; Terhorst, Cox; Kyttaris, Vasileios C.; Tsokos, George C.
2016-01-01
T cells from patients with systemic lupus erythematosus (SLE) display a number of functions including increased early signaling events following engagement of the T cell receptor (TCR). Signaling lymphocytic activation molecule family (SLAMF) cell surface receptors and the X-chromosome-defined signaling lymphocytic activation molecule-associated protein (SAP) adaptor are important in the development of several immunocyte lineages and modulating immune response. Here we present evidence that SAP protein levels are decreased in T cells and in their main subsets isolated from 32 women and 3 men with SLE independently of disease activity. In SLE T cells the SAP protein is also subject to increased degradation by a caspase-3. Forced expression of SAP in SLE T cells simultaneously heightened IL-2 production, calcium (Ca2+) responses and tyrosine phosphorylation of a number of proteins. Exposure of normal T cells to SLE serum IgG, known to contain anti-CD3/TCR antibodies, resulted in SAP downregulation. We conclude that SLE T cells display reduced levels of the adaptor protein SAP probably as a result of continuous T cell activation and degradation by caspase-3. Restoration of SAP levels in SLE T cells corrects the overexcitable lupus T cell phenotype. PMID:27183584
Tofiño-Vian, Miguel; Pérez del Caz, María Dolores; Castejón, Miguel Angel
2017-01-01
Osteoarthritis (OA) affects all articular tissues leading to pain and disability. The dysregulation of bone metabolism may contribute to the progression of this condition. Adipose-derived mesenchymal stem cells (ASC) are attractive candidates in the search of novel strategies for OA treatment and exert anti-inflammatory and cytoprotective effects on cartilage. Chronic inflammation in OA is a relevant factor in the development of cellular senescence and joint degradation. In this study, we extend our previous observations of ASC paracrine effects to study the influence of conditioned medium and extracellular vesicles from ASC on senescence induced by inflammatory stress in OA osteoblasts. Our results in cells stimulated with interleukin- (IL-) 1β indicate that conditioned medium, microvesicles, and exosomes from ASC downregulate senescence-associated β-galactosidase activity and the accumulation of γH2AX foci. In addition, they reduced the production of inflammatory mediators, with the highest effect on IL-6 and prostaglandin E2. The control of mitochondrial membrane alterations and oxidative stress may provide a mechanism for the protective effects of ASC in OA osteoblasts. We have also shown that microvesicles and exosomes mediate the paracrine effects of ASC. Our study suggests that correction of abnormal osteoblast metabolism by ASC products may contribute to their protective effects. PMID:29230269
Tofiño-Vian, Miguel; Guillén, Maria Isabel; Pérez Del Caz, María Dolores; Castejón, Miguel Angel; Alcaraz, Maria José
2017-01-01
Osteoarthritis (OA) affects all articular tissues leading to pain and disability. The dysregulation of bone metabolism may contribute to the progression of this condition. Adipose-derived mesenchymal stem cells (ASC) are attractive candidates in the search of novel strategies for OA treatment and exert anti-inflammatory and cytoprotective effects on cartilage. Chronic inflammation in OA is a relevant factor in the development of cellular senescence and joint degradation. In this study, we extend our previous observations of ASC paracrine effects to study the influence of conditioned medium and extracellular vesicles from ASC on senescence induced by inflammatory stress in OA osteoblasts. Our results in cells stimulated with interleukin- (IL-) 1 β indicate that conditioned medium, microvesicles, and exosomes from ASC downregulate senescence-associated β -galactosidase activity and the accumulation of γ H2AX foci. In addition, they reduced the production of inflammatory mediators, with the highest effect on IL-6 and prostaglandin E 2 . The control of mitochondrial membrane alterations and oxidative stress may provide a mechanism for the protective effects of ASC in OA osteoblasts. We have also shown that microvesicles and exosomes mediate the paracrine effects of ASC. Our study suggests that correction of abnormal osteoblast metabolism by ASC products may contribute to their protective effects.
Ito, Shinya; Ogawa, Koji; Takeuchi, Koh; Takagi, Motoki; Yoshida, Masahito; Hirokawa, Takatsugu; Hirayama, Shoshiro; Shin-Ya, Kazuo; Shimada, Ichio; Doi, Takayuki; Goshima, Naoki; Natsume, Tohru; Nagata, Kazuhiro
2017-12-08
Fibrosis can disrupt tissue structure and integrity and impair organ function. Fibrosis is characterized by abnormal collagen accumulation in the extracellular matrix. Pharmacological inhibition of collagen secretion therefore represents a promising strategy for the management of fibrotic disorders, such as liver and lung fibrosis. Hsp47 is an endoplasmic reticulum (ER)-resident collagen-specific molecular chaperone essential for correct folding of procollagen in the ER. Genetic deletion of Hsp47 or inhibition of its interaction with procollagen interferes with procollagen triple helix production, which vastly reduces procollagen secretion from fibroblasts. Thus, Hsp47 could be a potential and promising target for the management of fibrosis. In this study, we screened small-molecule compounds that inhibit the interaction of Hsp47 with collagen from chemical libraries using surface plasmon resonance (BIAcore), and we found a molecule AK778 and its cleavage product Col003 competitively inhibited the interaction and caused the inhibition of collagen secretion by destabilizing the collagen triple helix. Structural information obtained with NMR analysis revealed that Col003 competitively binds to the collagen-binding site on Hsp47. We propose that these structural insights could provide a basis for designing more effective therapeutic drugs for managing fibrosis. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.
The Neurogenetic Correlates of Consciousness
NASA Astrophysics Data System (ADS)
Grandy, John K.
2013-09-01
The neurogenetic correlates of consciousness (NgCC) is a new field of consciousness studies that focuses on genes that have an effect on or are involved in the continuum of neuron-based consciousness. A framework of consciousness based on the neural correlates of consciousness (NCC) has already been established by Francis Crick and Christof Kock. In this work I propose that there are NgCC underlying the NCC which are both active during the conscious experience. So how are genes involved? There are two significant connections between DNA and neurons that are involved in the conscious experience. First, any brain system can be adversely affected by underlying genetic abnormalities which can be expressed in an individual at birth, in adulthood, or later in life. Second, the DNA molecule does not lay dormant while the neuron runs on autopilot. DNA is active in translating and transcribing RNA and protein products that are utilized during neuron functioning. Without these products being continuously produced by the DNA during a conscious experience the neurons would cease to function correctly and be rendered unable to provide a continuum of human consciousness. Consequently, in addition to NCC, NgCC must be factored in when appreciating a conscious event. In this work I will discuss and explain some NgCC citing several examples.
Disordered haematopoiesis and athero-thrombosis
Murphy, Andrew J.; Tall, Alan R.
2016-01-01
Abstract Atherosclerosis, the major underlying cause of cardiovascular disease, is characterized by a lipid-driven infiltration of inflammatory cells in large and medium arteries. Increased production and activation of monocytes, neutrophils, and platelets, driven by hypercholesterolaemia and defective high-density lipoproteins-mediated cholesterol efflux, tissue necrosis and cytokine production after myocardial infarction, or metabolic abnormalities associated with diabetes, contribute to atherogenesis and athero-thrombosis. This suggests that in addition to traditional approaches of low-density lipoproteins lowering and anti-platelet drugs, therapies directed at abnormal haematopoiesis, including anti-inflammatory agents, drugs that suppress myelopoiesis, and excessive platelet production, rHDL infusions and anti-obesity and anti-diabetic agents, may help to prevent athero-thrombosis. PMID:26869607
Chromosomal Translocations: Chicken or Egg? | Center for Cancer Research
Many tumor cells have abnormal chromosomes. Some of these abnormalities are caused by chromosomal translocations, which occur when two chromosomes break and incorrectly rejoin, resulting in an exchange of genetic material. Translocations can activate oncogenes, silence tumor suppressor genes, or result in the creation of completely new fusion gene products. While there is
Chessa, Massimo; Carminati, Mario; Cinteză, Eliza Elena; Butera, Gianfranco; Giugno, Luca; Arcidiacono, Carmelo; Piazza, Luciane; Bulescu, Nicolae Cristian; Pome, Giuseppe; Frigiola, Alessandro; Giamberti, Alessandro
2016-01-01
Abnormal connection of the right superior caval vein to the left atrium is an uncommon systemic vein drainage anomaly, with only a few cases reported among congenital heart disease (CHD), around 20 cases published in the medical literature. The inferior vena cava connection with the left atrium, also very rare, can appear directly or in heterotaxy. Clinical suspicion arises due to the presence of cyanosis in the absence of other specific clinical signs (without other associated CHD). We present the cases of two children with abnormal superior and inferior systemic venous return. The first case is an abnormal connection of right superior vena cava to the left atrium associated with persistent left superior vena cava draining into the right atrium through the coronary sinus. The second case is an interruption of the inferior vena cava with hemiazygos continuation, drained into the left superior vena cava, which drained into the left atrium. The diagnosis was imagistic - echocardiography and angiography. Surgical treatment solutions vary from one case to another, usually following anatomic correction. Hypoxia accompanied by cyanosis must bring into question the pathology of systemic venous drainage anomaly, after other common causes have been excluded. Surgery is indicated in all cases due to the risk associated with the presence of right-to-left shunt.
Sevel, Landrew S; Boissoneault, Jeff; Letzen, Janelle E; Robinson, Michael E; Staud, Roland
2018-05-30
Chronic fatigue syndrome (CFS) is a disorder associated with fatigue, pain, and structural/functional abnormalities seen during magnetic resonance brain imaging (MRI). Therefore, we evaluated the performance of structural MRI (sMRI) abnormalities in the classification of CFS patients versus healthy controls and compared it to machine learning (ML) classification based upon self-report (SR). Participants included 18 CFS patients and 15 healthy controls (HC). All subjects underwent T1-weighted sMRI and provided visual analogue-scale ratings of fatigue, pain intensity, anxiety, depression, anger, and sleep quality. sMRI data were segmented using FreeSurfer and 61 regions based on functional and structural abnormalities previously reported in patients with CFS. Classification was performed in RapidMiner using a linear support vector machine and bootstrap optimism correction. We compared ML classifiers based on (1) 61 a priori sMRI regional estimates and (2) SR ratings. The sMRI model achieved 79.58% classification accuracy. The SR (accuracy = 95.95%) outperformed both sMRI models. Estimates from multiple brain areas related to cognition, emotion, and memory contributed strongly to group classification. This is the first ML-based group classification of CFS. Our findings suggest that sMRI abnormalities are useful for discriminating CFS patients from HC, but SR ratings remain most effective in classification tasks.
2013-01-01
Background The role of the extracranial venous system in the pathology of central nervous system (CNS) disorders and aging is largely unknown. It is acknowledged that the development of the venous system is subject to many variations and that these variations do not necessarily represent pathological findings. The idea has been changing with regards to the extracranial venous system. Discussion A range of extracranial venous abnormalities have recently been reported, which could be classified as structural/morphological, hemodynamic/functional and those determined only by the composite criteria and use of multimodal imaging. The presence of these abnormalities usually disrupts normal blood flow and is associated with the development of prominent collateral circulation. The etiology of these abnormalities may be related to embryologic developmental arrest, aging or other comorbidities. Several CNS disorders have been linked to the presence and severity of jugular venous reflux. Another composite criteria-based vascular condition named chronic cerebrospinal venous insufficiency (CCSVI) was recently introduced. CCSVI is characterized by abnormalities of the main extracranial cerebrospinal venous outflow routes that may interfere with normal venous outflow. Summary Additional research is needed to better define the role of the extracranial venous system in relation to CNS disorders and aging. The use of endovascular treatment for the correction of these extracranial venous abnormalities should be discouraged, until potential benefit is demonstrated in properly-designed, blinded, randomized and controlled clinical trials. Please see related editorial: http://www.biomedcentral.com/1741-7015/11/259. PMID:24344742
Changes in ion transport in inflammatory disease.
Eisenhut, Michael
2006-03-29
Ion transport is essential for maintenance of transmembranous and transcellular electric potential, fluid transport and cellular volume. Disturbance of ion transport has been associated with cellular dysfunction, intra and extracellular edema and abnormalities of epithelial surface liquid volume. There is increasing evidence that conditions characterized by an intense local or systemic inflammatory response are associated with abnormal ion transport. This abnormal ion transport has been involved in the pathogenesis of conditions like hypovolemia due to fluid losses, hyponatremia and hypokalemia in diarrhoeal diseases, electrolyte abnormalities in pyelonephritis of early infancy, septicemia induced pulmonary edema, and in hypersecretion and edema induced by inflammatory reactions of the mucosa of the upper respiratory tract. Components of membranous ion transport systems, which have been shown to undergo a change in function during an inflammatory response include the sodium potassium ATPase, the epithelial sodium channel, the Cystic Fibrosis Transmembrane Conductance Regulator and calcium activated chloride channels and the sodium potassium chloride co-transporter. Inflammatory mediators, which influence ion transport are tumor necrosis factor, gamma interferon, interleukins, transforming growth factor, leukotrienes and bradykinin. They trigger the release of specific messengers like prostaglandins, nitric oxide and histamine which alter ion transport system function through specific receptors, intracellular second messengers and protein kinases. This review summarizes data on in vivo measurements of changes in ion transport in acute inflammatory conditions and in vitro studies, which have explored the underlying mechanisms. Potential interventions directed at a correction of the observed abnormalities are discussed.
Diabetes mellitus, insulin resistance and hepatitis C virus infection: A contemporary review.
Desbois, Anne-Claire; Cacoub, Patrice
2017-03-07
To summarise the literature data on hepatitis C virus (HCV)-infected patients concerning the prevalence of glucose abnormalities and associated risk. We conducted a PubMed search and selected all studies found with the key words "HCV" or "hepatitis C virus" and "diabetes" or "insulin resistance". We included only comparative studies written in English or in French, published from January 2000 to April 2015. We collected the literature data on HCV-infected patients concerning the prevalence of glucose abnormalities [diabetes mellitus (DM) and insulin resistance (IR)] and associated risk [ i.e ., severe liver fibrosis, response to antivirals, and the occurrence of hepatocellular carcinoma (HCC)]. HCV infection is significantly associated with DM/IR compared with healthy volunteers and patients with hepatitis B virus infection. Glucose abnormalities were associated with advanced liver fibrosis, lack of sustained virologic response to interferon alfa-based treatment and with a higher risk of HCC development. As new antiviral therapies may offer a cure for HCV infection, such data should be taken into account, from a therapeutic and preventive point of view, for liver and non-liver consequences of HCV disease. The efficacy of antidiabetic treatment in improving the response to antiviral treatment and in decreasing the risk of HCC has been reported by some studies but not by others. Thus, the effects of glucose abnormalities correction in reducing liver events need further studies. Glucose abnormalities are strongly associated with HCV infection and show a negative impact on the main liver related outcomes.
L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model.
Donsante, Anthony; Sullivan, Patricia; Goldstein, David S; Brinster, Lauren R; Kaler, Stephen G
2013-02-01
Menkes disease is a lethal neurodegenerative disorder of infancy caused by mutations in a copper-transporting adenosine triphosphatase gene, ATP7A. Among its multiple cellular tasks, ATP7A transfers copper to dopamine beta hydroxylase (DBH) within the lumen of the Golgi network or secretory granules, catalyzing the conversion of dopamine to norepinephrine. In a well-established mouse model of Menkes disease, mottled-brindled (mo-br), we tested whether systemic administration of L-threo-dihydroxyphenylserine (L-DOPS), a drug used successfully to treat autosomal recessive norepinephrine deficiency, would improve brain neurochemical abnormalities and neuropathology. At 8, 10, and 12 days of age, wild-type and mo-br mice received intraperitoneal injections of 200μg/g body weight of L-DOPS, or mock solution. Five hours after the final injection, the mice were euthanized, and brains were removed. We measured catecholamine metabolites affected by DBH via high-performance liquid chromatography with electrochemical detection, and assessed brain histopathology. Compared to mock-treated controls, mo-br mice that received intraperitoneal L-DOPS showed significant increases in brain norepinephrine (p < 0.001) and its deaminated metabolite, dihydroxyphenylglycol (p < 0.05). The ratio of a non-beta-hydroxylated metabolite in the catecholamine biosynthetic pathway, dihydroxyphenylacetic acid, to the beta-hydroxylated metabolite, dihydroxyphenylglycol, improved equivalently to results obtained previously with brain-directed ATP7A gene therapy (p < 0.01). However, L-DOPS treatment did not arrest global brain pathology or improve somatic growth, as gene therapy had. We conclude that (1) L-DOPS crosses the blood-brain barrier in mo-br mice and corrects brain neurochemical abnormalities, (2) norepinephrine deficiency is not the cause of neurodegeneration in mo-br mice, and (3) L-DOPS treatment may ameliorate noradrenergic hypofunction in Menkes disease. Copyright © 2012 American Neurological Association.
L-DOPS corrects neurochemical abnormalities in a Menkes disease mouse model
Donsante, Anthony; Sullivan, Patricia; Goldstein, David S.; Brinster, Lauren R.; Kaler, Stephen G.
2012-01-01
Objective Menkes disease is a lethal neurodegenerative disorder of infancy caused by mutations in a copper-transporting ATPase gene, ATP7A. Among its multiple cellular tasks, ATP7A transfers copper to dopamine-beta-hydroxylase (DBH) within the lumen of the Golgi network or secretory granules, catalyzing the conversion of dopamine to norepinephrine. In a well-established mouse model of Menkes disease, mottled-brindled, we tested whether systemic administration of L-threo-dihydroxyphenylserine (L-DOPS), a drug used successfully to treat autosomal recessive norepinephrine deficiency, would improve brain neurochemical abnormalities and neuropathology. Methods At 8, 10, and 12 days of age, wild type and mo-br mice received intraperi-toneal injections of 200μg/g body weight of L-DOPS, or mock solution. Five hours after the final injection, the mice were euthanized and brains removed. We measured catecholamine metabolites affected by DBH via high-performance liquid chromatography with electrochemical detection, and assessed brain histopathology. Results Compared to mock-treated controls, mo-br mice that received intraperitoneal L-DOPS showed significant increases in brain norepinephrine (P<0.001) and its deaminated metabolite, dihydroxyphenylglycol (DHPG, P<0.05). The ratio of a non-beta-hydroxylated metabolite in the catecholamine biosynthetic pathway, dihydroxyphenylacetic acid, to the beta-hydroxylated metabolite, dihydroxyphenylglycol, improved equivalently to results obtained previously with brain-directed ATP7A gene therapy (P<0.01). However, L-DOPS treatment did not arrest global brain pathology or improve somatic growth, as gene therapy had. Interpretation We conclude that 1) L-DOPS crosses the blood-brain barrier in mo-br mice and corrects brain neurochemical abnormalities, 2) norepinephrine deficiency is not the cause of neurodegeneration in mo-br mice, and 3) L-DOPS treatment may ameliorate noradrenergic hypofunction in Menkes disease. PMID:23224983
van Gorp, Freek; Duffull, Stephen; Hackett, L Peter; Isbister, Geoffrey K
2012-01-01
AIMS To describe the pharmacokinetics and pharmacodynamics (PKPD) of escitalopram in overdose and its effect on QT prolongation, including the effectiveness of single dose activated charcoal (SDAC). METHODS The data set included 78 escitalopram overdose events (median dose, 140 mg [10–560 mg]). SDAC was administered 1.0 to 2.6 h after 12 overdoses (15%). A fully Bayesian analysis was undertaken in WinBUGS 1.4.3, first for a population pharmacokinetic (PK) analysis followed by a PKPD analysis. The developed PKPD model was used to predict the probability of having an abnormal QT as a surrogate for torsade de pointes. RESULTS A one compartment model with first order input and first-order elimination described the PK data, including uncertainty in dose and a baseline concentration for patients taking escitalopram therapeutically. SDAC reduced the fraction absorbed by 31% and reduced the individual predicted area under the curve adjusted for dose (AUCi/dose). The absolute QT interval was related to the observed heart rate with an estimated individual heart rate correction factor (α = 0.35). The heart rate corrected QT interval (QTc) was linearly dependent on predicted escitalopram concentration [slope = 87 ms/(mg l–1)], using a hypothetical effect-compartment (half-life of effect-delay, 1.0h). Administration of SDAC significantly reduced QT prolongation and was shown to reduce the risk of having an abnormal QT by approximately 35% for escitalopram doses above 200 mg. CONCLUSIONS There was a dose-related lengthening of the QT interval that lagged the increase in drug concentration. SDAC resulted in a moderate reduction in fraction of escitalopram absorbed and reduced the risk of the QT interval being abnormal. PMID:21883384
Wang, Xiaoli; Zhang, Wei; Ishii, Takefumi; Sozer, Selcuk; Wang, Jiapeng; Xu, Mingjiang; Hoffman, Ronald
2011-01-01
The abnormal trafficking of CD34+ cells is a unique characteristic of primary myelofibrosis (PMF). We have further studied the behavior of PMF CD34+ cells by examining their homing to the marrow and the spleens of NOD/SCID mice. Following the infusion of PMF and normal G-CSF mobilized peripheral blood (mPB) CD34+ cells into NOD/SCID mice, reduced numbers of PMF CD34+ cells and CFU-GM as compared to mPB were detected in the marrow of these mice while similar numbers of PMF and mPB CD34+ cells and CFU-GM homed to their spleens. The abnormal homing of PMF CD34+ cells was associated with reduced expression of CXCR4, but was not related to the presence of JAK2V617F. The sequential treatment of PMF CD34+ cell with the chromatin modifying agents, 5-aza-2'-deoxycytidine (5azaD) and trichostatin A (TSA) but not treatment with small molecule inhibitors of JAK2 resulted in the generation of increased numbers of CD34+CXCR4+ cells which was accompanied by enhanced homing of PMF CD34+ cells to the marrow but not the spleens of NOD/SCID mice. Following 5azaD/TSA treatment JAK2V617F negative PMF hematopoietic progenitor cells preferentially homed to the marrow but not the spleens of recipient mice. Our data suggest that PMF CD34+ cells are characterized by a reduced ability to home to the marrow but not the spleens of NOD/SCID mice and that this homing defect can be corrected by sequential treatment with chromatin modifying agents. PMID:19752087
Effect of hyperventilation on rate corrected QT interval of children.
Kannivelu, Arivalagan; Kudumula, Vikram; Bhole, Vinay
2013-02-01
Hyperventilation is known to cause ST segment changes and QT variability in adults, but this has not been systematically studied in children. To investigate the effect of hyperventilation on rate corrected QT interval (QTc) in children. 25 children (male=10) with a median age of 14 (range 8.3-17.6) years were asked to hyperventilate for 1 min before exercise testing using the modified Bruce protocol. Mean QTc at rest, after hyperventilation, at peak exercise and at 1 min of recovery was 425(±31), 460(±30), 446(±38) and 420(±32) ms, respectively. Mean increase (95% CI) in QTc after hyperventilation was 35(19 to 51) ms (p<0.001), while there was minimal difference between QT interval at rest and after hyperventilation (mean QT 352(±41) vs 357(±44) ms). In six children, there were abnormalities in T wave morphology following hyperventilation. The QTc increment following hyperventilation was more pronounced in children with resting QTc <440 ms (n=14, mean increment (95% CI): 55 (33 to 78) ms) compared to children with QTc ≥440 ms (n=11, mean increment (95% CI): 9 (-4 to 22) ms) (p=0.001). QTc prolongation following hyperventilation was seen in children with both low and intermediate probability of long QT syndrome (LQTS). Peak exercise and early recovery did not cause a statistically significant change in QTc in either of these groups. Hyperventilation produces repolarisation abnormalities, including prolongation of QTc and T wave abnormalities in children with low probability of LQTS. The likely mechanism is delayed adaptation of QT interval with increased heart rate. Thus, a hyperventilation episode can be misdiagnosed as LQTS, especially in an emergency department.
Lázaro, L; Ortiz, A G; Calvo, A; Ortiz, A E; Moreno, E; Morer, A; Calvo, R; Bargallo, N
2014-10-03
The aims of this study were to identify gray matter (GM) and white matter (WM) volume abnormalities in pediatric obsessive-compulsive patients, to examine their relationship between these abnormalities and the severity of disorder, and to explore whether they could be explained by the different symptom dimensions. 62 child and adolescent OCD patients (11-18years old) and 46 healthy subjects of the same gender and similar age and estimated intellectual quotient were assessed by means of psychopathological scales and magnetic resonance imaging (MRI). Axial three-dimensional T1-weighted images were obtained in a 3T scanner and analyzed using optimized voxel-based morphometry (VBM). Compared with healthy controls, OCD patients showed lower white matter (WM) volume in the left dorsolateral and cingulate regions involving the superior and middle frontal gyri and anterior cingulate gyrus (t=4.35, p=0.049 FWE (family wise error)-corrected). There was no significant correlation between WM and the severity of obsessive-compulsive symptomatology. There were no regions with lower gray matter (GM) volume in OCD patients than in controls. Compared with healthy controls, only the "harm/checking" OCD dimension showed a cluster with a near significant decrease in WM volume in the right superior temporal gyrus extending into the insula (t=5.61, p=.056 FWE-corrected). The evidence suggests that abnormalities in the dorsolateral prefrontal cortex, anterior cingulate cortex, temporal and limbic regions play a central role in the pathophysiology of OCD. Moreover, regional brain volumes in OCD may vary depending on specific OCD symptom dimensions, indicating the clinical heterogeneity of the condition. Copyright © 2014 Elsevier Inc. All rights reserved.
Real-time ECG monitoring and arrhythmia detection using Android-based mobile devices.
Gradl, Stefan; Kugler, Patrick; Lohmuller, Clemens; Eskofier, Bjoern
2012-01-01
We developed an application for Android™-based mobile devices that allows real-time electrocardiogram (ECG) monitoring and automated arrhythmia detection by analyzing ECG parameters. ECG data provided by pre-recorded files or acquired live by accessing a Shimmer™ sensor node via Bluetooth™ can be processed and evaluated. The application is based on the Pan-Tompkins algorithm for QRS-detection and contains further algorithm blocks to detect abnormal heartbeats. The algorithm was validated using the MIT-BIH Arrhythmia and MIT-BIH Supraventricular Arrhythmia databases. More than 99% of all QRS complexes were detected correctly by the algorithm. Overall sensitivity for abnormal beat detection was 89.5% with a specificity of 80.6%. The application is available for download and may be used for real-time ECG-monitoring on mobile devices.
Correcting highly aberrated eyes using large-stroke adaptive optics.
Sabesan, Ramkumar; Ahmad, Kamran; Yoon, Geunyoung
2007-11-01
To investigate the optical performance of a large-stroke deformable mirror in correcting large aberrations in highly aberrated eyes. A large-stroke deformable mirror (Mirao 52D; Imagine Eyes) and a Shack-Hartmann wavefront sensor were used in an adaptive optics system. Closed-loop correction of the static aberrations of a phase plate designed for an advanced keratoconic eye was performed for a 6-mm pupil. The same adaptive optics system was also used to correct the aberrations in one eye each of two moderate keratoconic and three normal human eyes for a 6-mm pupil. With closed-loop correction of the phase plate, the total root-mean-square (RMS) over a 6-mm pupil was reduced from 3.54 to 0.04 microm in 30 to 40 iterations, corresponding to 3 to 4 seconds. Adaptive optics closed-loop correction reduced an average total RMS of 1.73+/-0.998 to 0.10+/-0.017 microm (higher order RMS of 0.39+/-0.124 to 0.06+/-0.004 microm) in the three normal eyes and 2.73+/-1.754 to 0.10+/-0.001 microm (higher order RMS of 1.82+/-1.058 to 0.05+/-0.017 microm) in the two keratoconic eyes. Aberrations in both normal and highly aberrated eyes were successfully corrected using the large-stroke deformable mirror to provide almost perfect optical quality. This mirror can be a powerful tool to assess the limit of visual performance achievable after correcting the aberrations, especially in eyes with abnormal corneal profiles.
Virtual simulation of the postsurgical cosmetic outcome in patients with Pectus Excavatum
NASA Astrophysics Data System (ADS)
Vilaça, João L.; Moreira, António H. J.; L-Rodrigues, Pedro; Rodrigues, Nuno; Fonseca, Jaime C.; Pinho, A. C. M.; Correia-Pinto, Jorge
2011-03-01
Pectus excavatum is the most common congenital deformity of the anterior chest wall, in which several ribs and the sternum grow abnormally. Nowadays, the surgical correction is carried out in children and adults through Nuss technic. This technic has been shown to be safe with major drivers as cosmesis and the prevention of psychological problems and social stress. Nowadays, no application is known to predict the cosmetic outcome of the pectus excavatum surgical correction. Such tool could be used to help the surgeon and the patient in the moment of deciding the need for surgery correction. This work is a first step to predict postsurgical outcome in pectus excavatum surgery correction. Facing this goal, it was firstly determined a point cloud of the skin surface along the thoracic wall using Computed Tomography (before surgical correction) and the Polhemus FastSCAN (after the surgical correction). Then, a surface mesh was reconstructed from the two point clouds using a Radial Basis Function algorithm for further affine registration between the meshes. After registration, one studied the surgical correction influence area (SCIA) of the thoracic wall. This SCIA was used to train, test and validate artificial neural networks in order to predict the surgical outcome of pectus excavatum correction and to determine the degree of convergence of SCIA in different patients. Often, ANN did not converge to a satisfactory solution (each patient had its own deformity characteristics), thus invalidating the creation of a mathematical model capable of estimating, with satisfactory results, the postsurgical outcome.
Aleryani, Samir Lutf; Cluette-Brown, Joanne E; Khan, Zia A; Hasaba, Hasan; Lopez de Heredia, Luis; Laposata, Michael
2005-09-01
Methanol is a component of certain alcoholic beverages and is also an endogenously formed product. On this basis, we have proposed that methanol may promote synthesis of fatty acid methyl esters (FAMEs) in the same way that ethanol promotes fatty acid ethyl ester (FAEE) synthesis. We tested the hypothesis that FAMEs appear in the blood after ethanol intake. Patient plasma samples obtained from our laboratory (n=78) were grouped according to blood ethanol concentrations (intoxicated, blood ethanol >800 mg/l) and non-intoxicated. These samples were further subdivided into groups based on whether the patient had normal or abnormal liver function tests (abnormal, defined as > or =1 abnormality of plasma alanine and aspartate aminotransferase, albumin, total bilirubin, and alkaline phosphatase). A separate set of plasma samples were also divided into normal and abnormal groups based on pancreatic function tests (amylase and lipase). There were no patients with detectable ethanol in this group. Patients with abnormalities in pancreatic function tests were included upon recognition of endogenously produced FAMEs by patients with liver function test abnormalities. FAMEs were extracted from plasma and individual species of FAMEs quantified by gas chromatography-mass spectrometry (GC/MS). Increased concentrations of FAME were found in patient samples with evidence of liver dysfunction, regardless of whether or not they were intoxicated (n=21, p=0.01). No significant differences in plasma FAME concentrations were found between patients with normal (n=15) versus abnormal pancreatic function tests (n=22, p=0.72). The presence of FAMEs in human plasma may be related to the existence of liver disease, and not to blood ethanol concentrations or pancreatic dysfunction. The metabolic pathways associated with FAME production in patients with impaired liver function remain to be identified.
Brown, Meredith; Kuperberg, Gina R.
2015-01-01
Language and thought dysfunction are central to the schizophrenia syndrome. They are evident in the major symptoms of psychosis itself, particularly as disorganized language output (positive thought disorder) and auditory verbal hallucinations (AVHs), and they also manifest as abnormalities in both high-level semantic and contextual processing and low-level perception. However, the literatures characterizing these abnormalities have largely been separate and have sometimes provided mutually exclusive accounts of aberrant language in schizophrenia. In this review, we propose that recent generative probabilistic frameworks of language processing can provide crucial insights that link these four lines of research. We first outline neural and cognitive evidence that real-time language comprehension and production normally involve internal generative circuits that propagate probabilistic predictions to perceptual cortices — predictions that are incrementally updated based on prediction error signals as new inputs are encountered. We then explain how disruptions to these circuits may compromise communicative abilities in schizophrenia by reducing the efficiency and robustness of both high-level language processing and low-level speech perception. We also argue that such disruptions may contribute to the phenomenology of thought-disordered speech and false perceptual inferences in the language system (i.e., AVHs). This perspective suggests a number of productive avenues for future research that may elucidate not only the mechanisms of language abnormalities in schizophrenia, but also promising directions for cognitive rehabilitation. PMID:26640435
Yin, Ping; Liu, Yi; Xiong, Hua; Han, Yongliang; Sah, Shambhu Kumar; Zeng, Chun; Wang, Jingjie; Li, Yongmei
2018-02-01
To assess the changes of the structural and functional abnormalities in multiple sclerosis with simple spinal cord involvement (MS-SSCI) by using resting-state functional MRI (RS-fMRI), voxel based morphology (VBM) and diffusion tensor tractography. The amplitude of low-frequency fluctuation (ALFF) of 22 patients with MS-SSCI and 22 healthy controls (HCs) matched for age, gender and education were compared by using RS-fMRI. We also compared the volume, fractional anisotropy (FA) and apparent diffusion coefficient of the brain regions in baseline brain activity by using VBM and diffusion tensor imaging. The relationships between the expanded disability states scale (EDSS) scores, changed parameters of structure and function were further explored. (1) Compared with HCs, the ALFF of the bilateral hippocampus and right middle temporal gyrus in MS-SSCI decreased significantly. However, patients exhibited increased ALFF in the left middle frontal gyrus, left posterior cingulate gyrus and right middle occipital gyrus ( two-sample t-test, after AlphaSim correction, p < 0.01, voxel size > 40). The volume of right middle frontal gyrus reduced significantly (p < 0.01). The FA and ADC of right hippocampus, the FA of left hippocampus and right middle temporal gyrus were significantly different. (2) A significant correlation between EDSS scores and ALFF was noted only in the left posterior cingulate gyrus. Our results detected structural and functional abnormalities in MS-SSCI and functional parameters were associated with clinical abnormalities. Multimodal imaging plays an important role in detecting structural and functional abnormalities in MS-SSCI. Advances in knowledge: This is the first time to apply RS-fMRI, VBM and diffusion tensor tractography to study the structural and functional abnormalities in MS-SSCI, and to explore its correlation with EDSS score.
Xu, Tingting; Stephane, Massoud; Parhi, Keshab K
2013-04-01
The neural mechanisms of language abnormalities, the core symptoms in schizophrenia, remain unclear. In this study, a new experimental paradigm, combining magnetoencephalography (MEG) techniques and machine intelligence methodologies, was designed to gain knowledge about the frequency, brain location, and time of occurrence of the neural oscillations that are associated with lexical processing in schizophrenia. The 248-channel MEG recordings were obtained from 12 patients with schizophrenia and 10 healthy controls, during a lexical processing task, where the patients discriminated correct from incorrect lexical stimuli that were visually presented. Event-related desynchronization/synchronization (ERD/ERS) was computed along the frequency, time, and space dimensions combined, that resulted in a large spectral-spatial-temporal ERD/ERS feature set. Machine intelligence techniques were then applied to select a small subset of oscillation patterns that are abnormal in patients with schizophrenia, according to their discriminating power in patient and control classification. Patients with schizophrenia showed abnormal ERD/ERS patterns during both lexical encoding and post-encoding periods. The top-ranked features were located at the occipital and left frontal-temporal areas, and covered a wide frequency range, including δ (1-4 Hz), α (8-12 Hz), β (12-32 Hz), and γ (32-48 Hz) bands. These top features could discriminate the patient group from the control group with 90.91% high accuracy, which demonstrates significant brain oscillation abnormalities in patients with schizophrenia at the specific frequency, time, and brain location indicated by these top features. As neural oscillation abnormality may be due to the mechanisms of the disease, the spectral, spatial, and temporal content of the discriminating features can offer useful information for helping understand the physiological basis of the language disorder in schizophrenia, as well as the pathology of the disease itself.
Electroweak Corrections to pp→μ^{+}μ^{-}e^{+}e^{-}+X at the LHC: A Higgs Boson Background Study.
Biedermann, B; Denner, A; Dittmaier, S; Hofer, L; Jäger, B
2016-04-22
The first complete calculation of the next-to-leading-order electroweak corrections to four-lepton production at the LHC is presented, where all off-shell effects of intermediate Z bosons and photons are taken into account. Focusing on the mixed final state μ^{+}μ^{-}e^{+}e^{-}, we study differential cross sections that are particularly interesting for Higgs boson analyses. The electroweak corrections are divided into photonic and purely weak corrections. The former exhibit patterns familiar from similar W- or Z-boson production processes with very large radiative tails near resonances and kinematical shoulders. The weak corrections are of the generic size of 5% and show interesting variations, in particular, a sign change between the regions of resonant Z-pair production and the Higgs signal.
Gastric Dilatation and Volvulus in a Red Panda (Ailurus fulgens)
Neilsen, Colleen; Mans, Christoph; Colopy, Sara A.
2014-01-01
A 12-year-old male red panda (Ailurus fulgens) was evaluated for acute onset inappetance, staggering, collapse, and tachypnea. Gastric dilatation and volvulus (GDV) was diagnosed by radiography, abdominal ultrasonography, and exploratory celiotomy. Torsion of the stomach was corrected and an incisional gastropexy performed to prevent recurrence. No organs were devitalized, no other abnormalities detected, and the red panda recovered fully within 72 hours. PMID:24467661
Laboratory diagnosis of von Willebrand's disease.
Rick, M E
1994-12-01
The diagnosis of von Willebrand's disease is becoming complex as more is understood about the disease. Clinical information and laboratory data are necessary for the diagnosis because of the overlap of normal and abnormal laboratory values. A complete evaluation including von Willebrand factor multimers, ristocetin-induced platelet aggregation, factor VIII activity level, and a template bleeding time is necessary to correctly classify the patient so that optimal treatment may be given.
Saltik, Levent; Ugan Atik, Sezen; Bornaun, Helen
2017-10-01
Treatment of Scimitar syndrome is usually surgical; however, if there is "dual drainage" - that is, one to the inferior caval vein and the other to the left atrium - it is possible to successfully treat this anomaly via a less-invasive transcatheter approach. We report a case of Scimitar syndrome in a 21-month-old, male infant successfully treated with transcatheter embolisation.
Calderón-Garcidueñas, A L; Pérez-Loria, O; Alberto-Sagástegui, J; Farías-García, R
2000-01-01
Progressive limitation of occular motility, accompanied by ptosis but usually without diplopia, occurs in many pathologic states, including mitochondrial diseases. A case with chronic progressive external ophthalmoplegia with onset during childhood, associated with proximal myopathy and dysphasia is presented. The muscle biopsy showed a myopathic pattern and abnormal subsarcolemmal mitochondrial deposits. Muscle biopsy for important in the correct diagnosis of this entity.
Hou, Zhi-Shuai; Ulloa-Aguirre, Alfredo; Tao, Ya-Xiong
2018-06-01
Conformational diseases are caused by structurally abnormal proteins that cannot fold properly and achieve their native conformation. Misfolded proteins frequently originate from genetic mutations that may lead to loss-of-function diseases involving a variety of structurally diverse proteins including enzymes, ion channels, and membrane receptors. Pharmacoperones are small molecules that cross the cell surface plasma membrane and reach their target proteins within the cell, serving as molecular scaffolds to stabilize the native conformation of misfolded or well-folded but destabilized proteins, to prevent their degradation and promote correct trafficking to their functional site of action. Because of their high specificity toward the target protein, pharmacoperones are currently the focus of intense investigation as therapy for several conformational diseases. Areas covered: This review summarizes data on the mechanisms leading to protein misfolding and the use of pharmacoperone drugs as an experimental approach to rescue function of distinct misfolded/misrouted proteins associated with a variety of diseases, such as lysosomal storage diseases, channelopathies, and G protein-coupled receptor misfolding diseases. Expert commentary: The fact that many misfolded proteins may retain function, offers a unique therapeutic opportunity to cure disease by directly correcting misrouting through administering pharmacoperone drugs thereby rescuing function of disease-causing, conformationally abnormal proteins.
Anterior Inferior Iliac Spine (AIIS) and Subspine Hip Impingement
Carton, Patrick; Filan, David
2016-01-01
Summary Background Abnormal morphology of the anterior inferior iliac spine (AIIS) and the subspine region of the acetabular rim are increasingly being recognised as a source of symptomatic extra-articular hip impingement. This review article aims to highlight important differences in the pathogenesis, clinical presentation and management of extra-articular hip impingement from both the AIIS and subspine bony regions, and the outcome following surgical intervention. Methods A literature review was undertaken to examine the supporting evidence for AIIS and subspine hip impingement. A narrative account of the Author’s professional experience in this area, including operative technique for arthroscopic correction, is also presented. Results Abnormal morphology of the AIIS and subspine region has been classified using cadaveric, radiological and arthroscopic means; the clinical presentation and operative treatment has been documented in several case series studies. Dual pathology is often present - recognition and treatment of both intra- and extra-articular components are necessary for good postoperative outcome. Conclusions AIIS and sub-spine hip impingement should be considered as distinct pathological entities, which may also co-exist. Symptom relief can be expected following arthroscopic deformity correction with the treatment of concomitant intra-articular pathology. Failure to recognise and treat the extra-articular component may affect postoperative outcome. Level of evidence V. PMID:28066737
Limb Correction of Individual Infrared Channels Used in RGB Composite Products
NASA Technical Reports Server (NTRS)
Elmer, Nicholas J.; Berndt, Emily; Jedlovec, Gary J.; Lafontaine, Frank J.
2015-01-01
This study demonstrates that limb-cooling can be removed from infrared imagery using latitudinally and seasonally dependent limb correction coefficients, which account for an increasing optical path length as scan angle increases. Furthermore, limb-corrected RGB composites provide multiple advantages over uncorrected RGB composites, including increased confidence in the interpretation of RGB features, improved situation awareness for operational forecasters, seamless transition between overlaid RGB composites, easy comparison of RGB products from different sensors, and the availability of high quality proxy products for the GOES-R era, as demonstrated by the case examples presented in Section 3. This limb correction methodology can also be applied to additional infrared channels used to create other RGB products, including those created from other satellite sensors, such as Suomi NPP Visible Infrared Imaging Radiometer Suite (VIIRS).
Bartlett, Doreen J; Fanning, Jamie E
2003-01-01
The Alberta Infant Motor Scale (AIMS) was used to examine variations in motor development of infants born preterm. Sixty infants attending a Developmental Follow-up Clinic participated. Infants were assessed by physical therapists using the AIMS and independently judged by physicians to be neurodevelopmentally and neurologically "normal," "suspect," or "abnormal." The AIMS clearly differentiated infants in these three categories. Compared to the normative sample, infants judged to be "normal" demonstrated similar motor behaviors, infants judged to be "abnormal" were significantly different across a wide range of items, and infants judged to be "suspect" were significantly different on items requiring antigravity postural control, lower extremity dissociation, and trunk rotation. The AIMS can be used to identify infants developing abnormally, to affirm normalcy in infants developing typically, and to identify motor differences in infants who are neurologically "suspect." In the latter group of infants, the AIMS can be used to provide anticipatory guidance to parents regarding the components of movement they might expect their infants to be developing next.
Fatal breathing dysfunction in a mouse model of Leigh syndrome.
Quintana, Albert; Zanella, Sebastien; Koch, Henner; Kruse, Shane E; Lee, Donghoon; Ramirez, Jan M; Palmiter, Richard D
2012-07-01
Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with gliosis in several brain regions that usually results in infantile death. Loss of murine Ndufs4, which encodes NADH dehydrogenase (ubiquinone) iron-sulfur protein 4, results in compromised activity of mitochondrial complex I as well as progressive neurodegenerative and behavioral changes that resemble LS. Here, we report the development of breathing abnormalities in a murine model of LS. Magnetic resonance imaging revealed hyperintense bilateral lesions in the dorsal brain stem vestibular nucleus (VN) and cerebellum of severely affected mice. The mutant mice manifested a progressive increase in apnea and had aberrant responses to hypoxia. Electrophysiological recordings within the ventral brain stem pre-Bötzinger respiratory complex were also abnormal. Selective inactivation of Ndufs4 in the VN, one of the principle sites of gliosis, also led to breathing abnormalities and premature death. Conversely, Ndufs4 restoration in the VN corrected breathing deficits and prolonged the life span of knockout mice. These data demonstrate that mitochondrial dysfunction within the VN results in aberrant regulation of respiration and contributes to the lethality of Ndufs4-knockout mice.
Sidhu, Harpreet; Dansie, Lorraine E.; Hickmott, Peter W.
2014-01-01
Fmr1 knock-out (ko) mice display key features of fragile X syndrome (FXS), including delayed dendritic spine maturation and FXS-associated behaviors, such as poor socialization, obsessive-compulsive behavior, and hyperactivity. Here we provide conclusive evidence that matrix metalloproteinase-9 (MMP-9) is necessary to the development of FXS-associated defects in Fmr1 ko mice. Genetic disruption of Mmp-9 rescued key aspects of Fmr1 deficiency, including dendritic spine abnormalities, abnormal mGluR5-dependent LTD, as well as aberrant behaviors in open field and social novelty tests. Remarkably, MMP-9 deficiency also corrected non-neural features of Fmr1 deficiency—specifically macroorchidism—indicating that MMP-9 dysregulation contributes to FXS-associated abnormalities outside the CNS. Further, MMP-9 deficiency suppressed elevations of Akt, mammalian target of rapamycin, and eukaryotic translation initiation factor 4E phosphorylation seen in Fmr1 ko mice, which are also associated with other autistic spectrum disorders. These findings establish that MMP-9 is critical to the mechanisms responsible for neural and non-neural aspects of the FXS phenotype. PMID:25057190
Multi-jet merged top-pair production including electroweak corrections
NASA Astrophysics Data System (ADS)
Gütschow, Christian; Lindert, Jonas M.; Schönherr, Marek
2018-04-01
We present theoretical predictions for the production of top-quark pairs in association with jets at the LHC including electroweak (EW) corrections. First, we present and compare differential predictions at the fixed-order level for t\\bar{t} and t\\bar{t}+ {jet} production at the LHC considering the dominant NLO EW corrections of order O(α_{s}^2 α ) and O(α_{s}^3 α ) respectively together with all additional subleading Born and one-loop contributions. The NLO EW corrections are enhanced at large energies and in particular alter the shape of the top transverse momentum distribution, whose reliable modelling is crucial for many searches for new physics at the energy frontier. Based on the fixed-order results we motivate an approximation of the EW corrections valid at the percent level, that allows us to readily incorporate the EW corrections in the MePs@Nlo framework of Sherpa combined with OpenLoops. Subsequently, we present multi-jet merged parton-level predictions for inclusive top-pair production incorporating NLO QCD + EW corrections to t\\bar{t} and t\\bar{t}+ {jet}. Finally, we compare at the particle-level against a recent 8 TeV measurement of the top transverse momentum distribution performed by ATLAS in the lepton + jet channel. We find very good agreement between the Monte Carlo prediction and the data when the EW corrections are included.
Lepri, Debora; Capuzzo, Enrico; Mattioli, Anna Vittoria; Dall'Oglio, Daniela; Sgarioto, Vincenzo; Terenziani, Isabella; Caramaschi, Giacomo; Manzato, Franco; Franchini, Massimo
2013-03-01
Fresh Frozen Plasma (FFP) is a blood component whose clinical use is widespread worldwide. Transfusion safety of this product is ensured by legally obligatory tests. Although these tests are carried out on each plasma donation, safety levels can be further improved by using some technical procedures, such as, among others, methylene blue (MB) and solvent-detergent (SD) viral inactivation methods. The DMTE (Blood Transfusion Unit) in Mantova has used the pharmaceutical-like SD virally inactivated plasma since 2007 (Plasmasafe, Kedrion) as replacement of the PFC by each single donor. Guidelines for the usage of both products are the same. With the main aim of assessing the therapeutic effectiveness and safety of Plasmasafe, we decided to clinically monitor transfusions performed with this product on patients of the Intensive Care Unit at the city hospital in Mantova. In addition, we controlled some coagulation parameters (PT, aPTT, ATIII, Fibrinogen, PC, PS, FV, FVII, FVIII) before and 24 hours after the Plasmasafe infusion. From a clinical point of view, the use of Plasmasafe always led to a significant reduction, or complete stop, of the bleeding. No transfusion-related adverse events were recorded. As regards, the most relevant laboratory results, a marked increase in the above mentioned hemostatic parameters was detected. Furthermore, patients transfused with this product received a mean volume significantly lower than an historical cohort of patients treated with FFP (503 mL with Plasmasafe versus 1549 mL with FFP, P<0.001). The results of our study clearly document that Plasmasafe, a virally inactivated pharmaceutical-like product with a standardized content of coagulation factors, is a safe and cost-effective treatment, able to rapidly correct hemostatic abnormalities, for critical patients.
Federal Register 2010, 2011, 2012, 2013, 2014
2010-10-19
...-Rolled Carbon-Quality Steel Products From Brazil: Correction to Notice of Antidumping Duty Order AGENCY... certain hot-rolled flat-rolled carbon-quality steel products from Brazil. See Antidumping Duty Order: Certain Hot-Rolled Flat-Rolled Carbon-Quality Steel Products From Brazil, 67 FR 11093 (March 12, 2002...
Beauty and charm production in fixed target experiments
DOE Office of Scientific and Technical Information (OSTI.GOV)
Kidonakis, Nikolaos; Vogt, Ramona
We present calculations of NNLO threshold corrections for beauty and charm production in {pi}{sup -} p and pp interactions at fixed-target experiments. Recent calculations for heavy quark hadroproduction have included next-to-next-to-leading-order (NNLO) soft-gluon corrections [1] to the double differential cross section from threshold resummation techniques [2]. These corrections are important for near-threshold beauty and charm production at fixed-target experiments, including HERA-B and some of the current and future heavy ion experiments.
Reeder, Sarah H.; Lee, Byung Ha; Fox, Ronald; Dobritsa, Anna A.
2016-01-01
Pollen presents a powerful model for studying mechanisms of precise formation and deposition of extracellular structures. Deposition of the pollen wall exine leads to the generation of species-specific patterns on pollen surface. In most species, exine does not develop uniformly across the pollen surface, resulting in the formation of apertures–openings in the exine that are species-specific in number, morphology and location. A long time ago, it was proposed that number and positions of apertures might be determined by the geometry of tetrads of microspores–the precursors of pollen grains arising via meiotic cytokinesis, and by the number of last-contact points between sister microspores. We have tested this model by characterizing Arabidopsis mutants with ectopic apertures and/or abnormal geometry of meiotic products. Here we demonstrate that contact points per se do not act as aperture number determinants and that a correct geometric conformation of a tetrad is neither necessary nor sufficient to generate a correct number of apertures. A mechanism sensitive to pollen ploidy, however, is very important for aperture number and positions and for guiding the aperture factor INP1 to future aperture sites. In the mutants with ectopic apertures, the number and positions of INP1 localization sites change depending on ploidy or ploidy-related cell size and not on INP1 levels, suggesting that sites for aperture formation are specified before INP1 is brought to them. PMID:27177036
Cuf2 Is a Novel Meiosis-Specific Regulatory Factor of Meiosis Maturation
Ioannoni, Raphael; Beaudoin, Jude; Lopez-Maury, Luis; Codlin, Sandra; Bahler, Jurg; Labbe, Simon
2012-01-01
Background Meiosis is the specialized form of the cell cycle by which diploid cells produce the haploid gametes required for sexual reproduction. Initiation and progression through meiosis requires that the expression of the meiotic genes is precisely controlled so as to provide the correct gene products at the correct times. During meiosis, four temporal gene clusters are either induced or repressed by a cascade of transcription factors. Principal Findings In this report a novel copper-fist-type regulator, Cuf2, is shown to be expressed exclusively during meiosis. The expression profile of the cuf2+ mRNA revealed that it was induced during middle-phase meiosis. Both cuf2+ mRNA and protein levels are unregulated by copper addition or starvation. The transcription of cuf2+ required the presence of a functional mei4+ gene encoding a key transcription factor that activates the expression of numerous middle meiotic genes. Microscopic analyses of cells expressing a functional Cuf2-GFP protein revealed that Cuf2 co-localized with both homologous chromosomes and sister chromatids during the meiotic divisions. Cells lacking Cuf2 showed an elevated and sustained expression of several of the middle meiotic genes that persisted even during late meiosis. Moreover, cells carrying disrupted cuf2Δ/cuf2Δ alleles displayed an abnormal morphology of the forespore membranes and a dramatic reduction of spore viability. Significance Collectively, the results revealed that Cuf2 functions in the timely repression of the middle-phase genes during meiotic differentiation. PMID:22558440
Gene editing as a promising approach for respiratory diseases.
Bai, Yichun; Liu, Yang; Su, Zhenlei; Ma, Yana; Ren, Chonghua; Zhao, Runzhen; Ji, Hong-Long
2018-03-01
Respiratory diseases, which are leading causes of mortality and morbidity in the world, are dysfunctions of the nasopharynx, the trachea, the bronchus, the lung and the pleural cavity. Symptoms of chronic respiratory diseases, such as cough, sneezing and difficulty breathing, may seriously affect the productivity, sleep quality and physical and mental well-being of patients, and patients with acute respiratory diseases may have difficulty breathing, anoxia and even life-threatening respiratory failure. Respiratory diseases are generally heterogeneous, with multifaceted causes including smoking, ageing, air pollution, infection and gene mutations. Clinically, a single pulmonary disease can exhibit more than one phenotype or coexist with multiple organ disorders. To correct abnormal function or repair injured respiratory tissues, one of the most promising techniques is to correct mutated genes by gene editing, as some gene mutations have been clearly demonstrated to be associated with genetic or heterogeneous respiratory diseases. Zinc finger nucleases (ZFN), transcription activator-like effector nucleases (TALEN) and clustered regulatory interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9) systems are three innovative gene editing technologies developed recently. In this short review, we have summarised the structure and operating principles of the ZFNs, TALENs and CRISPR/Cas9 systems and their preclinical and clinical applications in respiratory diseases. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
[Placenta percreta--a severe obstetric complication despite correct diagnosis--a case report].
Gruca-Stryjak, Karolina; Ropacka-Lesiak, Mariola; Breborowicz, Grzegorz
2015-12-01
This paper presents a case of a pregnant woman with a history of two cesarean sections. The patient was admitted to the hospital because of vaginal bleeding. The ultrasound revealed a placenta covering the internal os. The placenta was characterized by heterogeneous echogenicity with visible irregular hypoechogenic areas and blurred border between the placenta and the cervix. Rich vascularity was observed on the border of the placenta, urethra and the urinary bladder. Cystoscopy showed severe congestion around the urethra. On the back wall of the bladder a slightly increased vascularity was seen, which did not allow to confirm or exclude placental ingrowth in the urinary bladder. At 38 weeks, the patient was scheduled for an elective cesarean section. A classic perpendicular incision and leaving the placenta in the uterine cavity were proposed. After opening the abdomen, a strong vascularization in the region of lower part of the uterus and the urinary bladder was seen. Uterine incision in the fundus and the posterior wall was performed. A female fetus (weight: 2950g, Apgar: 10,10) was born. Then, the umbilical cord was ligated with non-absorbable suture and inserted back into the uterus. However, due to the presence of abundant and persistent vaginal bleeding during the next few minutes, conversion to obstetric hysterectomy was required. During relaparotomy fragments of the placenta appeared on the right side after sliding the urinary bladder. The bladder and the left ureter were damaged during surgery. The urinary bladder was sewn after removal of the uterus. Next, the urologist anastomosed end-to-end the left ureter on the pigtail catheter In the third hour of operation, cardiac arrest was caused by ventricular fibrillation. Immediate resuscitation with defibrillation allowed to restore normal function of the cardiovascular system. Total blood loss during the operation was 3000-4000 ml. During surgery 10 units of packed RBCs, 7 units of fresh frozen plasma, and 4 units of cryoprecipitate were transfused. The patient received antibiotics and anticoagulation therapy. Polyuria was diagnosed in the following days of puerperium, accompanied by electrolyte disturbances in serum and urine. The patient was treated with vasopressin and the electrolyte disturbances were corrected. On day 10 postpartum, the urinary catheter was removed, and clear significant improvement and stabilization of renal function and patient health were obtained. The patient was discharged from the hospital on day 19 of the puerperium. In summary it is clear that the steadily increasing rate of cesarean deliveries may result in the future in an increased number of abnormal placentation cases. Abnormal placentation is one of the most important risk factors of severe obstetric complications, including perinatal massive hemorrhage, which can lead to abnormal organ perfusion with cardiac arrest. Therefore, prenatal diagnosis and identification of abnormal placentation are vital in order to plan adequately the date, place, and mode of delivery as well as to ensure the availability of highly qualified specialists in the field of obstetrics and anesthesia, and organize sufficient amount of blood products and blood substitutes.
QCD corrections to ZZ production in gluon fusion at the LHC
Caola, Fabrizio; Melnikov, Kirill; Rontsch, Raoul; ...
2015-11-23
We compute the next-to-leading-order QCD corrections to the production of two Z-bosons in the annihilation of two gluons at the LHC. Being enhanced by a large gluon flux, these corrections provide a distinct and, potentially, the dominant part of the N 3LO QCD contributions to Z-pair production in proton collisions. The gg → ZZ annihilation is a loop-induced process that receives the dominant contribution from loops of five light quarks, that are included in our computation in the massless approximation. We find that QCD corrections increase the gg → ZZ production cross section by O(50%–100%) depending on the values ofmore » the renormalization and factorization scales used in the leading-order computation and the collider energy. Furthermore, the large corrections to the gg → ZZ channel increase the pp → ZZ cross section by about 6% to 8%, exceeding the estimated theoretical uncertainty of the recent next-to-next-to-leading-order QCD calculation.« less
Update on massive transfusion.
Pham, H P; Shaz, B H
2013-12-01
Massive haemorrhage requires massive transfusion (MT) to maintain adequate circulation and haemostasis. For optimal management of massively bleeding patients, regardless of aetiology (trauma, obstetrical, surgical), effective preparation and communication between transfusion and other laboratory services and clinical teams are essential. A well-defined MT protocol is a valuable tool to delineate how blood products are ordered, prepared, and delivered; determine laboratory algorithms to use as transfusion guidelines; and outline duties and facilitate communication between involved personnel. In MT patients, it is crucial to practice damage control resuscitation and to administer blood products early in the resuscitation. Trauma patients are often admitted with early trauma-induced coagulopathy (ETIC), which is associated with mortality; the aetiology of ETIC is likely multifactorial. Current data support that trauma patients treated with higher ratios of plasma and platelet to red blood cell transfusions have improved outcomes, but further clinical investigation is needed. Additionally, tranexamic acid has been shown to decrease the mortality in trauma patients requiring MT. Greater use of cryoprecipitate or fibrinogen concentrate might be beneficial in MT patients from obstetrical causes. The risks and benefits for other therapies (prothrombin complex concentrate, recombinant activated factor VII, or whole blood) are not clearly defined in MT patients. Throughout the resuscitation, the patient should be closely monitored and both metabolic and coagulation abnormalities corrected. Further studies are needed to clarify the optimal ratios of blood products, treatment based on underlying clinical disorder, use of alternative therapies, and integration of laboratory testing results in the management of massively bleeding patients.
Federal Register 2010, 2011, 2012, 2013, 2014
2012-09-18
... ingredients in tobacco products under the Family Smoking Prevention and Tobacco Control Act. The document... Listing for Owners and Operators of Domestic Tobacco Product Establishments and Listing of Ingredients in Tobacco Products; Correction AGENCY: Food and Drug Administration, HHS. ACTION: Notice; correction...
Li, Shumei; Tian, Junzhang; Bauer, Andreas; Huang, Ruiwang; Wen, Hua; Li, Meng; Wang, Tianyue; Xia, Likun; Jiang, Guihua
2016-08-01
Purpose To analyze the integrity of white matter (WM) tracts in primary insomnia patients and provide better characterization of abnormal WM integrity and its relationship with disease duration and clinical features of primary insomnia. Materials and Methods This prospective study was approved by the ethics committee of the Guangdong No. 2 Provincial People's Hospital. Tract-based spatial statistics were used to compare changes in diffusion parameters of WM tracts from 23 primary insomnia patients and 30 healthy control (HC) participants, and the accuracy of these changes in distinguishing insomnia patients from HC participants was evaluated. Voxel-wise statistics across subjects was performed by using a 5000-permutation set with family-wise error correction (family-wise error, P < .05). Multiple regressions were used to analyze the associations between the abnormal fractional anisotropy (FA) in WM with disease duration, Pittsburgh Sleep Quality Index, insomnia severity index, self-rating anxiety scale, and the self-rating depression scale in primary insomnia. Characteristics for abnormal WM were also investigated in tract-level analyses. Results Primary insomnia patients had lower FA values mainly in the right anterior limb of the internal capsule, right posterior limb of the internal capsule, right anterior corona radiata, right superior corona radiata, right superior longitudinal fasciculus, body of the corpus callosum, and right thalamus (P < .05, family-wise error correction). The receiver operating characteristic areas for the seven regions were acceptable (range, 0.60-0.74; 60%-74%). Multiple regression models showed abnormal FA values in the thalamus and body corpus callosum were associated with the disease duration, self-rating depression scale, and Pittsburgh Sleep Quality Index scores. Tract-level analysis suggested that the reduced FA values might be related to greater radial diffusivity. Conclusion This study showed that WM tracts related to regulation of sleep and wakefulness, and limbic cognitive and sensorimotor regions, are disrupted in the right brain in patients with primary insomnia. The reduced integrity of these WM tracts may be because of loss of myelination. (©) RSNA, 2016.
Sharma, Deepika; Nagarkar, Anu N; Jindal, Pankaj; Kaur, Rajinder; Gupta, Ashok K
2008-08-01
We conducted a study of 65 adults who had undergone laryngectomy for the treatment of laryngeal cancer. Our goal was to identify any abnormal personality traits in these patients and to assess the effect that psychological counseling might have on correcting these abnormalities and thereby improving postoperative voice rehabilitation. A Personality Trait Inventory (PTI) administered to all patients preoperatively identified 47 patients who had abnormal scores for at least three personality traits. These 47 patients were sent for preoperative psychological counseling, and 3 months following surgery, they underwent a follow-up PTI. At the follow-up assessment, 40 of these patients-32 men and 8 women-still registered abnormal scores for at least three traits. Half of the men and half of the women were randomized to receive 12 sessions of individualized psychological counseling over 6 months in addition to standard speech therapy (group I); the other patients received speech therapy only (group II). A follow-up PTI was administered at the completion of psychological counseling and/or speech therapy (postoperative month 9). Statistical analysis of the data was performed with the paired-samples test. Intragroup analysis of the follow-up PTI results revealed that both groups experienced a significant improvement in activity scores (p < 0.001) compared with their previous PTI results and that group I had significantly better scores for two other PTI traits-cyclothymia (mood swings) and depressive tendency (p < 0.05); neither group showed a significant improvement in dominance scores. Intergroup comparisons revealed that group I's activity and depressive tendency scores were significantly better than those of group II; there was no significant difference between the two groups in cyclothymia and dominance scores. Finally, comparison of results by sex, regardless of group, revealed that men had a significantly higher score for dominance and women had significantly higher scores for depressive tendency, emotional instability, introversion, and social desirability. We conclude that a preoperative personality analysis should be carried out in all patients scheduled for laryngectomy to identify those with personality problems that might benefit from psychological counseling. Correction of these problems should help in the physical, mental, vocational, and social rehabilitation of these patients.
Lima, Alexandre; López, Alejandra; van Genderen, Michel E; Hurtado, Francisco Javier; Angulo, Martin; Grignola, Juan C; Shono, Atsuko; van Bommel, Jasper
2015-09-01
This was a cross-sectional multicenter study to investigate the ability of physicians and nurses from three different countries to subjectively evaluate sublingual microcirculation images and thereby discriminate normal from abnormal sublingual microcirculation based on flow and density abnormalities. Forty-five physicians and 61 nurses (mean age, 36 ± 10 years; 44 males) from three different centers in The Netherlands (n = 61), Uruguay (n = 12), and Japan (n = 33) were asked to subjectively evaluate a sample of 15 microcirculation videos randomly selected from an experimental model of endotoxic shock in pigs. All videos were first analyzed offline using the A.V.A. software by an independent, experienced investigator and were categorized as good, bad, or very bad microcirculation based on the microvascular flow index, perfused capillary density, and proportion of perfused capillaries. Then, the videos were randomly assigned to the examiners, who were instructed to subjectively categorize each image as good, bad, or very bad. An interrater analysis was performed, and sensitivity and specificity tests were calculated to evaluate the proportion of A.V.A. score abnormalities that the examiners correctly identified. The κ statistics indicated moderate agreement in the evaluation of microcirculation abnormalities using three categories, i.e., good, bad, or very bad (κ = 0.48), and substantial agreement using two categories, i.e., normal (good) and abnormal (bad or very bad) (κ = 0.66). There was no significant difference between the κ three and κ two statistics. We found that the examiner's subjective evaluations had good diagnostic performance and were highly sensitive (84%; 95% confidence interval, 81%-86%) and specific (87%; 95% confidence interval, 84%-90%) for sublingual microcirculatory abnormalities as assessed using the A.V.A. software. The subjective evaluations of sublingual microcirculation by physicians and nurses agreed well with a conventional offline analysis and were highly sensitive and specific for sublingual microcirculatory abnormalities.
Language abnormality in deaf people with schizophrenia: a problem with classifiers.
Chatzidamianos, G; McCarthy, R A; Du Feu, M; Rosselló, J; McKenna, P J
2018-06-05
Although there is evidence for language abnormality in schizophrenia, few studies have examined sign language in deaf patients with the disorder. This is of potential interest because a hallmark of sign languages is their use of classifiers (semantic or entity classifiers), a reference-tracking device with few if any parallels in spoken languages. This study aimed to examine classifier production and comprehension in deaf signing adults with schizophrenia. Fourteen profoundly deaf signing adults with schizophrenia and 35 age- and IQ-matched deaf healthy controls completed a battery of tests assessing classifier and noun comprehension and production. The patients showed poorer performance than the healthy controls on comprehension and production of both nouns and entity classifiers, with the deficit being most marked in the production of classifiers. Classifier production errors affected handshape rather than other parameters such as movement and location. The findings suggest that schizophrenia affects language production in deaf patients with schizophrenia in a unique way not seen in hearing patients.
Anaesthetic management of a patient with Pompe disease for kyphoscoliosis correction.
Kumbar, Vaishali; Simha, Jayashree; Gundappa, Parameswara
2016-05-01
Pompe disease (PD) is a type II glycogen storage disease, characterised by abnormal glycogen deposition, mainly in heart and skeletal muscles, leading to progressive loss of muscle function. The infantile variety is associated with severe hypertrophic cardiomyopathy and generally do not reach adulthood. The juvenile variety presents with progressive muscle weakness and respiratory failure. Anaesthetic management concerns in the patient reported here were mainly due to respiratory failure, myopathy and sensitivity to muscle relaxants and significant haemodynamic changes perioperatively. We successfully managed a 13-year-old girl with juvenile PD on respiratory support scheduled for thoracolumbar kyphoscoliosis corrective surgery. Ketamine and dexmedetomidine were used for induction of anaesthesia and maintenance. Muscle relaxants were diligently avoided in this case.
Evaluation of atmospheric correction algorithms for processing SeaWiFS data
NASA Astrophysics Data System (ADS)
Ransibrahmanakul, Varis; Stumpf, Richard; Ramachandran, Sathyadev; Hughes, Kent
2005-08-01
To enable the production of the best chlorophyll products from SeaWiFS data NOAA (Coastwatch and NOS) evaluated the various atmospheric correction algorithms by comparing the satellite derived water reflectance derived for each algorithm with in situ data. Gordon and Wang (1994) introduced a method to correct for Rayleigh and aerosol scattering in the atmosphere so that water reflectance may be derived from the radiance measured at the top of the atmosphere. However, since the correction assumed near infrared scattering to be negligible in coastal waters an invalid assumption, the method over estimates the atmospheric contribution and consequently under estimates water reflectance for the lower wavelength bands on extrapolation. Several improved methods to estimate near infrared correction exist: Siegel et al. (2000); Ruddick et al. (2000); Stumpf et al. (2002) and Stumpf et al. (2003), where an absorbing aerosol correction is also applied along with an additional 1.01% calibration adjustment for the 412 nm band. The evaluation show that the near infrared correction developed by Stumpf et al. (2003) result in an overall minimum error for U.S. waters. As of July 2004, NASA (SEADAS) has selected this as the default method for the atmospheric correction used to produce chlorophyll products.
Abnormal laughter-like vocalisations replacing speech in primary progressive aphasia
Rohrer, Jonathan D.; Warren, Jason D.; Rossor, Martin N.
2009-01-01
We describe ten patients with a clinical diagnosis of primary progressive aphasia (PPA) (pathologically confirmed in three cases) who developed abnormal laughter-like vocalisations in the context of progressive speech output impairment leading to mutism. Failure of speech output was accompanied by increasing frequency of the abnormal vocalisations until ultimately they constituted the patient's only extended utterance. The laughter-like vocalisations did not show contextual sensitivity but occurred as an automatic vocal output that replaced speech. Acoustic analysis of the vocalisations in two patients revealed abnormal motor features including variable note duration and inter-note interval, loss of temporal symmetry of laugh notes and loss of the normal decrescendo. Abnormal laughter-like vocalisations may be a hallmark of a subgroup in the PPA spectrum with impaired control and production of nonverbal vocal behaviour due to disruption of fronto-temporal networks mediating vocalisation. PMID:19435636
Abnormal laughter-like vocalisations replacing speech in primary progressive aphasia.
Rohrer, Jonathan D; Warren, Jason D; Rossor, Martin N
2009-09-15
We describe ten patients with a clinical diagnosis of primary progressive aphasia (PPA) (pathologically confirmed in three cases) who developed abnormal laughter-like vocalisations in the context of progressive speech output impairment leading to mutism. Failure of speech output was accompanied by increasing frequency of the abnormal vocalisations until ultimately they constituted the patient's only extended utterance. The laughter-like vocalisations did not show contextual sensitivity but occurred as an automatic vocal output that replaced speech. Acoustic analysis of the vocalisations in two patients revealed abnormal motor features including variable note duration and inter-note interval, loss of temporal symmetry of laugh notes and loss of the normal decrescendo. Abnormal laughter-like vocalisations may be a hallmark of a subgroup in the PPA spectrum with impaired control and production of nonverbal vocal behaviour due to disruption of fronto-temporal networks mediating vocalisation.
Second-order QCD effects in Higgs boson production through vector boson fusion
NASA Astrophysics Data System (ADS)
Cruz-Martinez, J.; Gehrmann, T.; Glover, E. W. N.; Huss, A.
2018-06-01
We compute the factorising second-order QCD corrections to the electroweak production of a Higgs boson through vector boson fusion. Our calculation is fully differential in the kinematics of the Higgs boson and of the final state jets, and uses the antenna subtraction method to handle infrared singular configurations in the different parton-level contributions. Our results allow us to reassess the impact of the next-to-leading order (NLO) QCD corrections to electroweak Higgs-plus-three-jet production and of the next-to-next-to-leading order (NNLO) QCD corrections to electroweak Higgs-plus-two-jet production. The NNLO corrections are found to be limited in magnitude to around ± 5% and are uniform in several of the kinematical variables, displaying a kinematical dependence only in the transverse momenta and rapidity separation of the two tagging jets.
Newnham, Evan D; Shepherd, Susan J; Strauss, Boyd J; Hosking, Patrick; Gibson, Peter R
2016-02-01
Key aims of treatment of coeliac disease are to heal the intestinal mucosa and correct nutritional abnormalities. We aim to determine prospectively the degree of success and time course of achieving those goals with a gluten-free diet. Ninety-nine patients were enrolled at diagnosis and taught the diet. The first 52 were reassessed at 1 year and 46 at 5 years, 25 being assessed at the three time points regarding dietary compliance (dietitian-assessed), coeliac serology, bone mineral density and body composition analysis by dual energy X-ray absorptiometry, and intestinal histology. Mean age (range) was 40 (18-71) years and 48 (76%) were female. Dietary compliance was very good to excellent in all but one. Tissue transglutaminase IgA was persistently elevated in 44% at 1 year and 30% at 5 years and were poorly predictive of mucosal disease. Rates of mucosal remission (Marsh 0) and response (Marsh 0/1) were 37% and 54%, and 50% and 85% at 1 and 5 years, respectively. Fat mass increased significantly over the first year in those with normal/reduced body mass index. Lean body mass indices more slowly improved irrespective of status at diagnosis with significant improvement at 5 years. Bone mass increased only in those with osteopenia or osteoporosis, mostly in year 1. Dietary compliance is associated with a high chance of healing the intestinal lesion and correction of specific body compositional abnormalities. The time course differed with body fat improving within 1 year, and correction of the mucosal lesion and improvement in lean mass and bone mass taking longer. © 2015 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.
Epilepsy, Mental Health Disorder, or Both?
Beletsky, Vadim; Mirsattari, Seyed M.
2012-01-01
Temporal lobe epilepsy (TLE), a subset of the seizure disorder family, represents a complex neuropsychiatric illness, where the neurological presentation may be complemented by varying severity of affective, behavioral, psychotic, or personality abnormalities, which, in turn, may not only lead to misdiagnosis, but also affect the management. This paper outlines a spectrum of mental health presentations, including psychosis, mood, anxiety, panic, and dissociative states, associated with epilepsy that make the correct diagnosis a challenge. PMID:22934158
Janneck, C
1980-04-01
A new operative procedure is described for bat ear abnormality, resulting from isolated hypertrophy of the concha or by a ventriposition of the whole ear. The procedure is described in detail and its advantages are stressed. It is a short operation which does not leave a visible scar and achieves reliable results. The post-operative findings in 11 patients are reported.
Experiment K-7-16: Effects of Microgravity or Simulated Launch on Testicular Function in Rats
NASA Technical Reports Server (NTRS)
Amann, R. P.; Clemens, J. W.; Deaver, D.; Folmer, J.; Zirkin, B.; Veeramachaneni, D. N. R.; Grills, G. S.; Gruppi, C. M.; Wolgemuth, D.; Serova, L. V.;
1994-01-01
Fixed or frozen testicular tissues from five rats per group were analyzed by: subjective and quantitative evaluations of spermatogenesis; Northern-blot analysis for expression of selected genes; quantification of testosterone and receptors for LH; and morphometric analysis of Leydig cells. Based on observations of fixed tissue, it was evident that some rats in the flight and vivarium groups had testicular abnormalities unassociated with treatment, and probably existing when they were assigned randomly to the four treatment groups; the simulated-launch group contained no abnormal rat. Lesions induced in testes of caudal-elevation rats precluded discernment of any pre-existing abnormality. Considering rats without pre-existing abnormalities, diameter of seminiferous tubules and numbers of germ cells per tubule cross section were lower (E less than 0.05) in flight rats than in simulated-launch or vivarium rats. However, ratios of germ cells to each other, or to Sertoli cells, and number of homogenization-resistant spermatids did not differ from values for simulated-launch or vivarium controls. There was no effect of flight on normal expression of testis-specific hsp gene products, or evidence for production of stress-inducible transcripts of the hsp70 or hsp90 genes. Concentration of receptors for rLH in testicular tissue, and surface densities of smooth endoplasmic reticulum and peroxisomes in Leydig cells, were similar in flight and simulated-launch rats. However, concentrations of testosterone in testicular tissue or peripheral blood plasma were reduced (P less than 0.05) in flight rats to less than 20 percent of values for simulated-launch or vivarium controls. Thus, spermatogenesis was essentially normal in flight rats, but production of testosterone was severely depressed. Sequela of reduced androgen production on turnover of muscle and bone should be considered when interpreting data from mammals exposed to microgravity.
Liu, Jian-meng; Ren, Aiguo; Yang, Lei; Gao, Jinji; Pei, Lijun; Ye, Rongwei; Qu, Quangang; Zheng, Xiaoying
2010-01-01
Background Kidney damage related to consumption of melamine-contaminated dairy products by young children in China has been described. However, no studies have reported on the population-based prevalence of kidney damage among exposed children or on the condition of affected children after follow-up. Methods We conducted an ultrasound-based screening in September 2008 of 7933 children younger than 36 months of age who lived in a rural area in China where the dairy products most highly contaminated with melamine were sold. We monitored children who had evidence of nephrolithiasis or hydronephrosis at screening using renal ultrasonography after one, three and six months. We also collected information from the mothers of affected children about consumption of melamine-contaminated products between June and August 2008. Results The overall prevalence of urinary tract abnormalities among screened children was 0.61% (95% confidence interval [CI] 0.45%–0.80%). The mean exposure dose of melamine was estimated to be 116 (range 36–220) mg per day. Of the 48 affected children, 43 (89.6%) were asymptomatic, 2 had symptoms and were hospitalized, and 3 had symptoms but treatment had been not sought for them. Of the 46 children for whom six-month follow-up information was available, renal abnormalities persisted in 5 children and resolved in the remaining 41. Interpretation Among children who underwent screening, 0.61% showed ultrasonographic evidence of nephrolithiasis or hydronephrosis. Most of the affected children were asymptomatic. The majority of the affected children recovered from the toxic effects of melamine over time without specific treatment. Renal abnormalities remained in 12% of the affected children. PMID:20176755
Tanaka, Miho J
2018-06-01
Trochlear dysplasia and patella alta are known risk factors for patellar instability, yet the relation between the two has not been well understood. Morphologic abnormalities such as trochlear dysplasia and patella alta are known to alter patellofemoral kinematics, whereas altered contact pressures, in turn, have been associated with the development of trochlear dysplasia. As our current treatments aim to correct these deformities through increasingly complex procedures such as trochleoplasty and tuberosity distalization, we should consider this relation and the potential for changing the course of developing such morphologic abnormalities earlier in life. Further studies on the developmental cause of this disorder may help guide future treatments in the management of patellar instability. Copyright © 2018 Arthroscopy Association of North America. Published by Elsevier Inc. All rights reserved.
Late onset canonical babbling: a possible early marker of abnormal development.
Oller, D K; Eilers, R E; Neal, A R; Cobo-Lewis, A B
1998-11-01
By their 10th month of life, typically developing infants produce canonical babbling, which includes the well-formed syllables required for meaningful speech. Research suggests that emerging speech or language-related disorders might be associated with late onset of canonical babbling. Onset of canonical babbling was investigated for 1,536 high-risk infants, at about 10-months corrected age. Parental report by open-ended questionnaire was found to be an efficient method for ascertaining babbling status. Although delays were infrequent, they were often associated with genetic, neurological, anatomical, and/or physiological abnormalities. Over half the cases of late canonical babbling were not, at the time they were discovered associated with prior significant medical diagnoses. Late canonical-babbling onset may be a predictor of later developmental disabilities, including problems in speech, language, and reading.
Abnormal gallium scan patterns of the salivary gland in pulmonary sarcoidosis
DOE Office of Scientific and Technical Information (OSTI.GOV)
Mishkin, F.S.; Tanaka, T.T.; Niden, A.H.
1978-12-01
The findings of gallium imaging suggest that parotid abnormalities in sarcoidosis are common. Correlation with lung and mediastinal uptake suggests that this represents an early disease state and that it responds to steroid administration. That the findings after therapy do not simply represent suppression of the uptake mechanism for gallium is supported by objective improvement in pulmonary function as well as symptomatic relief. Salivary gland accumulation of gallium citrate occurred in one third of our control group patients--in those who had collagen disease and presumably either were alcoholic or had infectious parotitis. This may also be seen in lymphoma andmore » after radiation therapy. Although the combination of salivary gland, pulmonary, and hilar concentration of gallium is not specific, in the appropriate clinical setting the pattern may be helpful in suggesting the correct diagnosis.« less
Haile, Colin N.; Mahoney, James J.; Newton, Thomas F.; De La Garza, Richard
2012-01-01
Much effort has been devoted to research focused on pharmacotherapies for cocaine dependence yet there are no FDA-approved medications for this brain disease. Preclinical models have been essential to defining the central and peripheral effects produced by cocaine. Recent evidence suggests that cocaine exerts its reinforcing effects by acting on multiple neurotransmitter systems within mesocorticolimibic circuitry. Imaging studies in cocaine-dependent individuals have identified deficiencies in dopaminergic signaling primarily localized to corticolimbic areas. In addition to dysregulated striatal dopamine, norepinephrine and glutamate are also altered in cocaine dependence. In this review, we present these brain abnormalities as therapeutic targets for the treatment of cocaine dependence. We then survey promising medications that exert their therapeutic effects by presumably ameliorating these brain deficiencies. Correcting neurochemical deficits in cocaine-dependent individuals improves memory and impulse control, and reduces drug craving that may decrease cocaine use. We hypothesize that using medications aimed at reversing known neurochemical imbalances is likely to be more productive than current approaches. This view is also consistent with treatment paradigms used in neuropsychiatry and general medicine. PMID:22327234
Airline Passenger Profiling Based on Fuzzy Deep Machine Learning.
Zheng, Yu-Jun; Sheng, Wei-Guo; Sun, Xing-Ming; Chen, Sheng-Yong
2017-12-01
Passenger profiling plays a vital part of commercial aviation security, but classical methods become very inefficient in handling the rapidly increasing amounts of electronic records. This paper proposes a deep learning approach to passenger profiling. The center of our approach is a Pythagorean fuzzy deep Boltzmann machine (PFDBM), whose parameters are expressed by Pythagorean fuzzy numbers such that each neuron can learn how a feature affects the production of the correct output from both the positive and negative sides. We propose a hybrid algorithm combining a gradient-based method and an evolutionary algorithm for training the PFDBM. Based on the novel learning model, we develop a deep neural network (DNN) for classifying normal passengers and potential attackers, and further develop an integrated DNN for identifying group attackers whose individual features are insufficient to reveal the abnormality. Experiments on data sets from Air China show that our approach provides much higher learning ability and classification accuracy than existing profilers. It is expected that the fuzzy deep learning approach can be adapted for a variety of complex pattern analysis tasks.
Kim, Edward; Wang, Yuan; Kim, Sun-Jung; Bornhorst, Miriam; Jecrois, Emmanuelle S; Anthony, Todd E; Wang, Chenran; Li, Yi E; Guan, Jun-Lin; Murphy, Geoffrey G; Zhu, Yuan
2014-12-23
Individuals with neurofibromatosis type 1 (NF1) frequently exhibit cognitive and motor impairments and characteristics of autism. The cerebellum plays a critical role in motor control, cognition, and social interaction, suggesting that cerebellar defects likely contribute to NF1-associated neurodevelopmental disorders. Here we show that Nf1 inactivation during early, but not late stages of cerebellar development, disrupts neuronal lamination, which is partially caused by overproduction of glia and subsequent disruption of the Bergmann glia (BG) scaffold. Specific Nf1 inactivation in glutamatergic neuronal precursors causes premature differentiation of granule cell (GC) precursors and ectopic production of unipolar brush cells (UBCs), indirectly disrupting neuronal migration. Transient MEK inhibition during a neonatal window prevents cerebellar developmental defects and improves long-term motor performance of Nf1-deficient mice. This study reveals essential roles of Nf1 in GC/UBC migration by generating correct numbers of glia and controlling GC/UBC fate-specification/differentiation, identifying a therapeutic prevention strategy for multiple NF1-associcated developmental abnormalities.
Detecting Abnormal Machine Characteristics in Cloud Infrastructures
NASA Technical Reports Server (NTRS)
Bhaduri, Kanishka; Das, Kamalika; Matthews, Bryan L.
2011-01-01
In the cloud computing environment resources are accessed as services rather than as a product. Monitoring this system for performance is crucial because of typical pay-peruse packages bought by the users for their jobs. With the huge number of machines currently in the cloud system, it is often extremely difficult for system administrators to keep track of all machines using distributed monitoring programs such as Ganglia1 which lacks system health assessment and summarization capabilities. To overcome this problem, we propose a technique for automated anomaly detection using machine performance data in the cloud. Our algorithm is entirely distributed and runs locally on each computing machine on the cloud in order to rank the machines in order of their anomalous behavior for given jobs. There is no need to centralize any of the performance data for the analysis and at the end of the analysis, our algorithm generates error reports, thereby allowing the system administrators to take corrective actions. Experiments performed on real data sets collected for different jobs validate the fact that our algorithm has a low overhead for tracking anomalous machines in a cloud infrastructure.
Grover, Sandeep; Fishman, Gerald A; Stone, Edwin M
2004-10-01
To define ophthalmic findings in a family with autosomal dominant retinitis pigmentosa and a novel IMPDH1 gene mutation. Genetic and observational family study. Sixteen affected members of a family with autosomal dominant retinitis pigmentosa. Ophthalmic examination, including best-corrected visual acuity (VA), slit-lamp biomicroscopy, direct and indirect ophthalmoscopy, Goldmann kinetic perimetry, and electroretinography were performed. Deoxyribonucleic acid single-strand conformation polymorphism (SSCP) analysis was done. Abnormal polymerase chain reaction products identified by SSCP analysis were sequenced bidirectionally. All affected patients had the onset of night blindness within the first decade of life. Ocular findings were characterized by diffuse retinal pigmentary degenerative changes, marked restriction of peripheral visual fields, severe loss of VA, nondetectable electroretinography amplitudes, and a high frequency of posterior subcapsular lens opacities. Affected members were observed to harbor a novel IMPDH1 gene mutation. A novel IMPDH1 gene mutation (Arg231Pro) was associated with a severe form of autosomal dominant retinitis pigmentosa. Families affected with a severe form of this genetic subtype should be investigated for a mutation in the IMPDH1 gene.
Cardiac Transplantation in a Jehovah's Witness
Lammermeier, David E.; Duncan, J. Michael; Kuykendall, R. Craig; Macris, Michael P.; Frazier, O. Howard
1988-01-01
Between July 1982 and October 1987, surgeons at our institution performed 215 cardiac transplantation procedures, 1 of which was in a 46-year-old Jehovah's Witness with congestive cardiomyopathy, who required preoperative intra-aortic balloon pump support. At surgery, the cardiopulmonary bypass system was primed with 1600 ml of Ringer's lactate solution and dextrose. In the 57 minutes during which the patient was on cardiopulmonary bypass, the intra-aortic balloon was removed and successful orthotopic heart transplantation was performed. No supplemental blood or blood product was used, either during or after the procedure. The estimated intraoperative blood loss was 300 ml, and the postoperative chest tube drainage amounted to 1495 ml. Postoperative hematologic abnormalities (mild hypoprothrombinemia, mild thrombocytopenia, mild platelet dysfunction, and moderate hypochromic microcytic anemia) were corrected with Imferon, vitamin K, and desmopressin acetate administered intravenously, and with ferrous sulfate administered orally. This case, which to our knowledge is only the 2nd cardiac transplant in a Jehovah's Witness, further establishes that these patients can undergo even the most major of open-heart procedures without supplemental blood. (Texas Heart Institute Journal 1988;15:189-191) PMID:15227251
Yoga, bioenergetics and eating behaviors: A conceptual review
Ramos-Jiménez, Arnulfo; Wall-Medrano, Abraham; Corona-Hernández, Rocío I; Hernández-Torres, Rosa P
2015-01-01
Yoga is an ancient oriental discipline that emerged from mystical and philosophical concepts. Today it is practiced in the west, partly due to the promotion of its benefits to improve the lifestyle and overall health. As compared to non-Hatha Yoga (HY) practitioners, healthier and better-eating patterns have been observed in those who practice it. Agreement with the brought benefits, HY can be used as a therapeutic method to correct abnormal eating behaviors (AEB), obesity, and some metabolic diseases. However, the energy expenditure during traditional protocols of HY is not high; hence, it is not very effective for reducing or maintaining body weight or to improve cardiovascular conditioning. Even so, several observational studies suggest significant changes in eating behaviors, like a reduction in dietary fat intake and increments in that of fresh vegetables, whole grains and soy-based products, which in turn may reduce the risk for cardiovascular diseases. Given the inconsistency of the results derived from cross-sectional studies, more case–control studies are needed to demonstrate the efficacy of HY as an alternative method in the clinical treatment of disordered eating and metabolic diseases. PMID:26170586
Unfertilized ovary: a novel explant for coconut (Cocos nucifera L.) somatic embryogenesis.
Perera, Prasanthi I P; Hocher, Valerie; Verdeil, Jean Luc; Doulbeau, Sylvie; Yakandawala, Deepthi M D; Weerakoon, L Kaushalya
2007-01-01
Unfertilized ovaries isolated from immature female flowers of coconut (Cocos nucifera L.) were tested as a source of explants for callogenesis and somatic embryogenesis. The correct developmental stage of ovary explants and suitable in vitro culture conditions for consistent callus production were identified. The concentration of 2,4-dichlorophenoxyacetic acid (2,4-D) and activated charcoal was found to be critical for callogenesis. When cultured in a medium containing 100 microM 2,4-D and 0.1% activated charcoal, ovary explants gave rise to 41% callusing. Embryogenic calli were sub-cultured into somatic embryogenesis induction medium containing 5 microM abscisic acid, followed by plant regeneration medium (with 5 microM 6-benzylaminopurine). Many of the somatic embryos formed were complete with shoot and root poles and upon germination they gave rise to normal shoots. However, some abnormal developments were also observed. Flow cytometric analysis revealed that all the calli tested were diploid. Through histological studies, it was possible to study the sequence of the events that take place during somatic embryogenesis including orientation, polarization and elongation of the embryos.
The Association of PTSD Symptom Severity with Localized Hippocampus and Amygdala Abnormalities
Akiki, Teddy J.; Averill, Christopher L.; Wrocklage, Kristen M.; Schweinsburg, Brian; Scott, J. Cobb; Martini, Brenda; Averill, Lynnette A.; Southwick, Steven M.; Krystal, John H.; Abdallah, Chadi G.
2017-01-01
Background The hippocampus and amygdala have been repeatedly implicated in the psychopathology of posttraumatic stress disorder (PTSD). While numerous structural neuroimaging studies examined these two structures in PTSD, these analyses have largely been limited to volumetric measures. Recent advances in vertex-based neuroimaging methods have made it possible to identify specific locations of subtle morphometric changes within a structure of interest. Methods In this cross-sectional study, we used high-resolution magnetic resonance imaging to examine the relationship between PTSD symptomatology, as measured using the Clinician Administered PTSD Scale for the DSM-IV (CAPS), and structural shape of the hippocampus and amygdala using vertex-wise shape analyses in a group of combat-exposed US Veterans (N = 69). Results Following correction for multiple comparisons and controlling for age and cranial volume, we found that participants with more severe PTSD symptoms showed an indentation in the anterior half of the right hippocampus and an indentation in the dorsal region of the right amygdala (corresponding to the centromedial amygdala). Post hoc analysis using stepwise regression suggest that among PTSD symptom clusters, arousal symptoms explain most of the variance in the hippocampal abnormality, whereas re-experiencing symptoms explain most of the variance in the amygdala abnormality. Conclusion The results provide evidence of localized abnormalities in the anterior hippocampus and centromedial amygdala in combat-exposed US Veterans suffering from PTSD symptoms. This novel finding provides a more fine-grained analysis of structural abnormalities in PTSD and may be informative for understanding the neurobiology of the disorder. PMID:28825050
Choo, Wai K; McGeary, Katie; Farman, Colin; Greyling, Andre; Cross, Stephen J; Leslie, Stephen J
2014-01-01
This study aimed to examine whether general practitioner (GP) practice locations in remote and rural areas affected the pattern of direct access echocardiography referral and to assess any variations in echocardiographic findings. All referrals made by all GP practices in the Scottish Highlands over a 36-month period were analysed. Referral patterns were examined according to distance and rurality based on the Scottish Government's Urban-Rural Classification. Reasons for referral and cardiac abnormality detection rates were also examined. In total, 1188 referrals were made from 49 different GP practices; range of referral rates was 0.3-20.1 per 1000 population with a mean of 6.5 referrals per 1000 population. Referral rates were not significantly different between urban and rural practices after correction for population size. There was no correlation between the referral rates and the distance from the centre (r2=0.004, p=0.65). The most common reason for referral was the presence of new murmur (46%). The most common presenting symptom was breathlessness (44%). Overall, 28% of studies had significant abnormal findings requiring direct input from a cardiologist. There was no clear relationship between referral rates and cardiac abnormality detection rates (r2=0.07, p=0.37). The average cardiac abnormality detection rate was 56%, (range 52-60%), with no variation based on rurality (p=0.891). In this cohort, rurality and distance were not barriers to an equitable direct access echocardiography service. Cardiac abnormality detection rates are consistent with that of other studies.
NASA Astrophysics Data System (ADS)
Boughezal, Radja; Isgrò, Andrea; Petriello, Frank
2018-04-01
We present a detailed derivation of the power corrections to the factorization theorem for the 0-jettiness event shape variable T . Our calculation is performed directly in QCD without using the formalism of effective field theory. We analytically calculate the next-to-leading logarithmic power corrections for small T at next-to-leading order in the strong coupling constant, extending previous computations which obtained only the leading-logarithmic power corrections. We address a discrepancy in the literature between results for the leading-logarithmic power corrections to a particular definition of 0-jettiness. We present a numerical study of the power corrections in the context of their application to the N -jettiness subtraction method for higher-order calculations, using gluon-fusion Higgs production as an example. The inclusion of the next-to-leading-logarithmic power corrections further improves the numerical efficiency of the approach beyond the improvement obtained from the leading-logarithmic power corrections.
Final state interactions at the threshold of Higgs boson pair production
NASA Astrophysics Data System (ADS)
Zhang, Zhentao
2015-11-01
We study the effect of final state interactions at the threshold of Higgs boson pair production in the Glashow-Weinberg-Salam model. We consider three major processes of the pair production in the model: lepton pair annihilation, ZZ fusion, and WW fusion. We find that the corrections caused by the effect for these processes are markedly different. According to our results, the effect can cause non-negligible corrections to the cross sections for lepton pair annihilation and small corrections for ZZ fusion, and this effect is negligible for WW fusion.
Genetics and molecular biology of hypotension
NASA Technical Reports Server (NTRS)
Robertson, D.
1994-01-01
Major strides in the molecular biology of essential hypertension are currently underway. This has tended to obscure the fact that a number of inherited disorders associated with low blood pressure exist and that these diseases may have milder and underrecognized phenotypes that contribute importantly to blood pressure variation in the general population. This review highlights some of the gene products that, if abnormal, could cause hypotension in some individuals. Diseases due to abnormalities in the catecholamine enzymes are discussed in detail. It is likely that genetic abnormalities with hypotensive phenotypes will be as interesting and diverse as those that give rise to hypertensive disorders.
Chromosomal Translocations: Chicken or Egg? | Center for Cancer Research
Many tumor cells have abnormal chromosomes. Some of these abnormalities are caused by chromosomal translocations, which occur when two chromosomes break and incorrectly rejoin, resulting in an exchange of genetic material. Translocations can activate oncogenes, silence tumor suppressor genes, or result in the creation of completely new fusion gene products. While there is little doubt that chromosomal translocations can contribute to cancer, there is an active "chicken and the egg" discussion about the role translocations and other chromosomal abnormalities play—do they actually cause cancer or merely occur because of other changes within the cancer cell.
Federal Register 2010, 2011, 2012, 2013, 2014
2013-08-13
... INTERNATIONAL TRADE COMMISSION [Docket No 2971] Certain Flash Memory Chips and Products Containing the Same Correction to Notice of Receipt of Complaint; Solicitation of Comments Relating to the Public..., Certain Flash Memory Chips and Products Containing the Same, DN 2971; the Commission solicited comments on...
Brain Growth Rate Abnormalities Visualized in Adolescents with Autism
Hua, Xue; Thompson, Paul M.; Leow, Alex D.; Madsen, Sarah K.; Caplan, Rochelle; Alger, Jeffry R.; O’Neill, Joseph; Joshi, Kishori; Smalley, Susan L.; Toga, Arthur W.; Levitt, Jennifer G.
2014-01-01
Autism spectrum disorder (ASD) is a heterogeneous disorder of brain development with wide-ranging cognitive deficits. Typically diagnosed before age 3, ASD is behaviorally defined but patients are thought to have protracted alterations in brain maturation. With longitudinal magnetic resonance imaging (MRI), we mapped an anomalous developmental trajectory of the brains of autistic compared to those of typically developing children and adolescents. Using tensor-based morphometry (TBM), we created 3D maps visualizing regional tissue growth rates based on longitudinal brain MRI scans of 13 autistic and 7 typically developing boys (mean age/inter-scan interval: autism 12.0 ± 2.3 years/2.9 ± 0.9 years; control 12.3 ± 2.4/2.8 ± 0.8). The typically developing boys demonstrated strong whole-brain white matter growth during this period, but the autistic boys showed abnormally slowed white matter development (p = 0.03, corrected), especially in the parietal (p = 0.008), temporal (p = 0.03) and occipital lobes (p =0.02). We also visualized abnormal overgrowth in autism in some gray matter structures, such as the putamen and anterior cingulate cortex. Our findings reveal aberrant growth rates in brain regions implicated in social impairment, communication deficits and repetitive behaviors in autism, suggesting that growth rate abnormalities persist into adolescence. TBM revealed persisting growth rate anomalies long after diagnosis, which has implications for evaluation of therapeutic effects. PMID:22021093
Goswami, R; Pi, D; Pal, J; Cheng, K; Hudoba De Badyn, M
2015-06-01
The study evaluated the performance of a dynamic imaging telepathology system (Panoptiq(™) ) as a diagnostic aid to the identification of peripheral blood film (PBF) abnormalities. The study assumed a laboratory personnel working in a clinical laboratory were operating the telepathology system to seek diagnostic opinion from an external consulting hematopathologist. The study examined 100 blood films, encompassing 23 different hematological diseases, reactive or normal cases. The study revealed that with real-time image transmission in live scanning mode of operation, the telepathology system was able to aid reviewers in achieving excellent accuracy, that is correct interpretation of morphologic abnormalities obtained in 83/84 of the hematologic diseases and 12/12 of the reactive/normal conditions (Sensitivity: 0.99; Specificity: 1.00). In contrast, when only saved static images in digital capture mode of operation were reviewed remotely, interpretative omissions occurred in 8/84 of the hematologic diseases and 0/12 of the reactive/normal conditions (Sensitivity: 0.91; Specificity: 1.00). It is hypothesized that real-time operator-reviewer communication during live scanning played an important role in the identification of key morphologic abnormalities for review. Our study showed the Panoptiq system can be adopted reliably as a dynamic telepathology tool in aiding community laboratories in the triage of PBF cases for external diagnostic consultation. © 2014 John Wiley & Sons Ltd.
Enzyme Replacement for Craniofacial Skeletal Defects and Craniosynostosis in Murine Hypophosphatasia
Liu, Jin; Campbell, Cassie; Nam, Hwa Kyung; Caron, Alexandre; Yadav, Manisha C; Millán, José Luis; Hatch, Nan E.
2015-01-01
Hypophosphatasia (HPP) is an inborn-error-of-metabolism disorder characterized by deficient bone and tooth mineralization due to loss-of function mutations in the gene (Alpl) encoding tissue-nonspecific alkaline phosphatase (TNAP). Alpl−/− mice exhibit many characteristics seen in infantile HPP including long bone and tooth defects, vitamin B6 responsive seizures and craniosynostosis. Previous reports demonstrated that a mineral-targeted form of TNAP rescues long bone, verterbral and tooth mineralization defects in Alpl−/− mice. Here we report that enzyme replacement with mineral-targeted TNAP (asfotase-alfa) also prevents craniosynostosis (the premature fusion of cranial bones) and additional craniofacial skeletal abnormalities in Alpl−/− mice. Craniosynostosis, cranial bone volume and density, and craniofacial shape abnormalities were assessed by microsocopy, histology, digital caliper measurements and micro CT. We found that craniofacial shape defects, cranial bone mineralization and craniosynostosis were corrected in Alpl−/− mice injected daily subcutaneously starting at birth with recombinant enzyme. Analysis of Alpl−/− calvarial cells indicates that TNAP deficiency leads to aberrant osteoblastic gene expression and diminished proliferation. Some but not all of these cellular abnormalities were rescued by treatment with inorganic phosphate. These results confirm an essential role for TNAP in craniofacial skeletal development and demonstrate the efficacy of early postnatal mineral-targeted enzyme replacement for preventing craniofacial abnormalities including craniosynostosis in murine infantile HPP. PMID:25959417
Brain growth rate abnormalities visualized in adolescents with autism.
Hua, Xue; Thompson, Paul M; Leow, Alex D; Madsen, Sarah K; Caplan, Rochelle; Alger, Jeffry R; O'Neill, Joseph; Joshi, Kishori; Smalley, Susan L; Toga, Arthur W; Levitt, Jennifer G
2013-02-01
Autism spectrum disorder is a heterogeneous disorder of brain development with wide ranging cognitive deficits. Typically diagnosed before age 3, autism spectrum disorder is behaviorally defined but patients are thought to have protracted alterations in brain maturation. With longitudinal magnetic resonance imaging (MRI), we mapped an anomalous developmental trajectory of the brains of autistic compared with those of typically developing children and adolescents. Using tensor-based morphometry, we created 3D maps visualizing regional tissue growth rates based on longitudinal brain MRI scans of 13 autistic and seven typically developing boys (mean age/interscan interval: autism 12.0 ± 2.3 years/2.9 ± 0.9 years; control 12.3 ± 2.4/2.8 ± 0.8). The typically developing boys demonstrated strong whole brain white matter growth during this period, but the autistic boys showed abnormally slowed white matter development (P = 0.03, corrected), especially in the parietal (P = 0.008), temporal (P = 0.03), and occipital lobes (P = 0.02). We also visualized abnormal overgrowth in autism in gray matter structures such as the putamen and anterior cingulate cortex. Our findings reveal aberrant growth rates in brain regions implicated in social impairment, communication deficits and repetitive behaviors in autism, suggesting that growth rate abnormalities persist into adolescence. Tensor-based morphometry revealed persisting growth rate anomalies long after diagnosis, which has implications for evaluation of therapeutic effects. Copyright © 2011 Wiley Periodicals, Inc.
Jiang, Jiehui; Sun, Yiwu; Zhou, Hucheng; Li, Shaoping; Huang, Zhemin; Wu, Ping; Shi, Kuangyu; Zuo, Chuantao; Neuroimaging Initiative, Alzheimer's Disease
2018-01-01
18 F-FDG PET scan is one of the most frequently used neural imaging scans. However, the influence of age has proven to be the greatest interfering factor for many clinical dementia diagnoses when analyzing 18 F-FDG PET images, since radiologists encounter difficulties when deciding whether the abnormalities in specific regions correlate with normal aging, disease, or both. In the present paper, the authors aimed to define specific brain regions and determine an age-correction mathematical model. A data-driven approach was used based on 255 healthy subjects. The inferior frontal gyrus, the left medial part and the left medial orbital part of superior frontal gyrus, the right insula, the left anterior cingulate, the left median cingulate, and paracingulate gyri, and bilateral superior temporal gyri were found to have a strong negative correlation with age. For evaluation, an age-correction model was applied to 262 healthy subjects and 50 AD subjects selected from the ADNI database, and partial correlations between SUVR mean and three clinical results were carried out before and after age correction. All correlation coefficients were significantly improved after the age correction. The proposed model was effective in the age correction of both healthy and AD subjects.
Negative refraction angular characterization in one-dimensional photonic crystals.
Lugo, Jesus Eduardo; Doti, Rafael; Faubert, Jocelyn
2011-04-06
Photonic crystals are artificial structures that have periodic dielectric components with different refractive indices. Under certain conditions, they abnormally refract the light, a phenomenon called negative refraction. Here we experimentally characterize negative refraction in a one dimensional photonic crystal structure; near the low frequency edge of the fourth photonic bandgap. We compare the experimental results with current theory and a theory based on the group velocity developed here. We also analytically derived the negative refraction correctness condition that gives the angular region where negative refraction occurs. By using standard photonic techniques we experimentally determined the relationship between incidence and negative refraction angles and found the negative refraction range by applying the correctness condition. In order to compare both theories with experimental results an output refraction correction was utilized. The correction uses Snell's law and an effective refractive index based on two effective dielectric constants. We found good agreement between experiment and both theories in the negative refraction zone. Since both theories and the experimental observations agreed well in the negative refraction region, we can use both negative refraction theories plus the output correction to predict negative refraction angles. This can be very useful from a practical point of view for space filtering applications such as a photonic demultiplexer or for sensing applications.
Negative Refraction Angular Characterization in One-Dimensional Photonic Crystals
Lugo, Jesus Eduardo; Doti, Rafael; Faubert, Jocelyn
2011-01-01
Background Photonic crystals are artificial structures that have periodic dielectric components with different refractive indices. Under certain conditions, they abnormally refract the light, a phenomenon called negative refraction. Here we experimentally characterize negative refraction in a one dimensional photonic crystal structure; near the low frequency edge of the fourth photonic bandgap. We compare the experimental results with current theory and a theory based on the group velocity developed here. We also analytically derived the negative refraction correctness condition that gives the angular region where negative refraction occurs. Methodology/Principal Findings By using standard photonic techniques we experimentally determined the relationship between incidence and negative refraction angles and found the negative refraction range by applying the correctness condition. In order to compare both theories with experimental results an output refraction correction was utilized. The correction uses Snell's law and an effective refractive index based on two effective dielectric constants. We found good agreement between experiment and both theories in the negative refraction zone. Conclusions/Significance Since both theories and the experimental observations agreed well in the negative refraction region, we can use both negative refraction theories plus the output correction to predict negative refraction angles. This can be very useful from a practical point of view for space filtering applications such as a photonic demultiplexer or for sensing applications. PMID:21494332
Exposure to endocrine disrupting contaminants can compromise testosterone production and lead to abnormal male reproductive development and altered spermatogenesis. In vitro high throughput screening (HTS) assays are needed to evaluate risk to testosterone production, yet the mai...
Exposure to endocrine disrupting contaminants can compromise testosterone production and lead to abnormal male reproductive development and altered spermatogenesis. In vitro high throughput screening (HTS) assays are needed to evaluate risk to testosterone production, yet the mai...
2008073000 2008072900 2008072800 Background information bias reduction = ( | domain-averaged ensemble mean bias | - | domain-averaged bias-corrected ensemble mean bias | / | domain-averaged bias-corrected ensemble mean bias | NAEFS Products | NAEFS | EMC Ensemble Products EMC | NCEP | National Weather Service
A new technique for correction of simple congenital earlobe clefts: diametric hinge flaps method.
Qing, Yong; Cen, Ying; Xu, Xuewen; Chen, Junjie
2013-06-01
The earlobe plays an important part in the aesthetic appearance of the auricle. Congenital cleft earlobe may vary considerably in severity from a simple notching to extensive tissue deficiency. Most patients with cleft earlobe require surgical correction because of abnormal appearance. In this article, a new surgical technique for correcting congenital simple cleft earlobe using diametric hinge flaps is introduced. We retrospectively reviewed 4 patients diagnosed with congenital cleft earlobe between 2008 and 2010. All of them received this new surgical method. The patients were followed up from 3 to 6 months. All patients attained relatively full bodied earlobes with smooth contours, inconspicuous scars, and found their reconstructed earlobes to be aesthetically satisfactory. One patient experienced hypoesthesia in the area operated on, but recovered 3 months later. No other complications were noted. This simple method not only makes full use of the surrounding tissues to reconstruct full bodied earlobes but also avoids small notch formation caused by the linear scar contraction sometimes seen when using more traditional methods.
Disordered haematopoiesis and athero-thrombosis.
Murphy, Andrew J; Tall, Alan R
2016-04-07
Atherosclerosis, the major underlying cause of cardiovascular disease, is characterized by a lipid-driven infiltration of inflammatory cells in large and medium arteries. Increased production and activation of monocytes, neutrophils, and platelets, driven by hypercholesterolaemia and defective high-density lipoproteins-mediated cholesterol efflux, tissue necrosis and cytokine production after myocardial infarction, or metabolic abnormalities associated with diabetes, contribute to atherogenesis and athero-thrombosis. This suggests that in addition to traditional approaches of low-density lipoproteins lowering and anti-platelet drugs, therapies directed at abnormal haematopoiesis, including anti-inflammatory agents, drugs that suppress myelopoiesis, and excessive platelet production, rHDL infusions and anti-obesity and anti-diabetic agents, may help to prevent athero-thrombosis. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For permissions please email: journals.permissions@oup.com.
Attenuation of Cigarette Smoke-Induced Airway Mucus Production by Hydrogen-Rich Saline in Rats
Zhang, Jingxi; Dong, Yuchao; Xu, Wujian; Li, Qiang
2013-01-01
Background Over-production of mucus is an important pathophysiological feature in chronic airway disease such as chronic obstructive pulmonary disease (COPD) and asthma. Cigarette smoking (CS) is the leading cause of COPD. Oxidative stress plays a key role in CS-induced airway abnormal mucus production. Hydrogen protected cells and tissues against oxidative damage by scavenging hydroxyl radicals. In the present study we investigated the effect of hydrogen on CS-induced mucus production in rats. Methods Male Sprague-Dawley rats were divided into four groups: sham control, CS group, hydrogen-rich saline pretreatment group and hydrogen-rich saline control group. Lung morphology and tissue biochemical changes were determined by immunohistochemistry, Alcian Blue/periodic acid-Schiff staining, TUNEL, western blot and realtime RT-PCR. Results Hydrogen-rich saline pretreatment attenuated CS-induced mucus accumulation in the bronchiolar lumen, goblet cell hyperplasia, muc5ac over-expression and abnormal cell apoptosis in the airway epithelium as well as malondialdehyde increase in the BALF. The phosphorylation of EGFR at Tyr1068 and Nrf2 up-regulation expression in the rat lungs challenged by CS exposure were also abrogated by hydrogen-rich saline. Conclusion Hydrogen-rich saline pretreatment ameliorated CS-induced airway mucus production and airway epithelium damage in rats. The protective role of hydrogen on CS-exposed rat lungs was achieved at least partly by its free radical scavenging ability. This is the first report to demonstrate that intraperitoneal administration of hydrogen-rich saline protected rat airways against CS damage and it could be promising in treating abnormal airway mucus production in COPD. PMID:24376700
La Vignera, S; Calogero, A E; Cannizzaro, M A; Vicari, E
2006-12-01
The aim of this study was to analyse possible differences in sperm characteristics (including seminal leukocyte concentration, number of spermiophagies, and sperm reactive oxygen species [ROS] production) between patients with monolateral and bilateral prostate-vesciculo-epididymitis (PVE). Seventy-eight selected consecutively enrolled patients (mean age 34 years, range 24-40) with chronic inflammatory postmicrobial PVE and 30 infertile (aged-matched) patients (control group) with inflammatory postmicrobial prostatitis underwent sperm analysis, including seminal leukocyte concentration, number of spermiophages, and ROS production. Sperm concentration and total sperm number were significantly lower in the patients with bilateral PVE than in those with monolateral PVE. The percentage of cases with oligozoospermia or hyperspermia was significantly higher among patients with bilateral PVE with than those with monolateral PVE. Although the remaining cytologic and physicochemical sperm characteristics and ROS production (both in 45% and 90% Percoll fractions) were not significantly different between the 2 PVE groups, both groups showed median and relative percentages of frequency of abnormal sperm characteristics worse than those in the control group. Although sperm abnormalities (including seminal leukocyte concentration, number of spermiophages, and ROS production) can distinguish patients with PVE from those with prostatitis alone, the abnormalities did not discriminate between unilateral and bilateral PVE. In diagnostic suspicion of PVE, didymo-epididymal and prostato-vescicular ultrasonography can help discriminate monolateral from bilateral forms of PVE, and is a useful aid in the follow-up of these patients.
Huang, Lihui; Han, Demin; Guo, Ying; Liu, Sha; Cui, Xiaoyan; Mo, Lingyan; Qi, Beier; Cai, Zhenghua; Liu, Hui; En, Hui; Guo, Liansheng
2008-10-01
Audiological characteristics were investigated in 81 ears of 53 infants with abnormal transient evoked otoacoustic emission (TEOAE) and normal auditory brainstem response (ABR). The relationship between ABR and other hearing testing methods, including 40Hz auditory event-related potential (40Hz-AERP), auditory steady state response (ASSR), distortion product otoacoustic emission (DPOAE), tympanometry, and acoustic reflex, was analyzed. Of the 81 ears, 18 ears (22.2%) were normal, while 63 ears (77.8%) were abnormal according to the tests. Testing of the 40 Hz AERP (36 ears) and ASSR (45 ears) revealed that 14 ears (38.9%) and 27 ears (60.0%) were abnormal, respectively. Testing of DPOAE in 68 ears revealed that 50 ears (73.5%) were abnormal. Testing of tympanometry in 50 ears and acoustic reflex in 47 ears revealed that 9 ears (18%) and 27 ears (57.4%) were abnormal, respectively. The present data suggests that the hearing of infants cannot be sufficiently evaluated with ABR only and that it must be evaluated with integrative audiological testing methods.
NNLO QCD corrections to associated W H production and H →b b ¯ decay
NASA Astrophysics Data System (ADS)
Caola, Fabrizio; Luisoni, Gionata; Melnikov, Kirill; Röntsch, Raoul
2018-04-01
We present a computation of the next-to-next-to-leading-order (NNLO) QCD corrections to the production of a Higgs boson in association with a W boson at the LHC and the subsequent decay of the Higgs boson into a b b ¯ pair, treating the b quarks as massless. We consider various kinematic distributions and find significant corrections to observables that resolve the Higgs decay products. We also find that a cut on the transverse momentum of the W boson, important for experimental analyses, may have a significant impact on kinematic distributions and radiative corrections. We show that some of these effects can be adequately described by simulating QCD radiation in Higgs boson decays to b quarks using parton showers. We also describe contributions to Higgs decay to a b b ¯ pair that first appear at NNLO and that were not considered in previous fully differential computations. The calculation of NNLO QCD corrections to production and decay sub-processes is carried out within the nested soft-collinear subtraction scheme presented by some of us earlier this year. We demonstrate that this subtraction scheme performs very well, allowing a computation of the coefficient of the second-order QCD corrections at the level of a few per mill.
Pask, Andrew
2016-01-01
Correct sexual development is arguably the most important trait in an organism's life history since it is directly related to its genetic fitness. The developing gonad houses the germ cells, the only legacy we pass on to subsequent generations. Given the pivotal importance of correct reproductive function, it is confounding that disorders of sex development (DSDs) are among the most common congenital abnormalities in humans (Lee et al. J Pediatr Urol 8(6):611-615, 2012). Urogenital development is a highly complex process involving coordinated interactions between molecular and hormonal pathways in a tightly regulated order. The controls that regulate some of the key events in this process are beginning to be unraveled. This chapter provides an overview of our understanding of urogenital development from the gonads to the urogenital ducts and external genitalia.
QT correction formulas and laboratory analysis on patients with metabolic syndrome and diabetes
NASA Astrophysics Data System (ADS)
Wong, Sara; Rivera, Pedro; Rodríguez, María. G.; Severeyn, Érika; Altuve, Miguel
2013-11-01
This article presents a study of ventricular repolarization in diabetic and metabolic syndrome subjects. The corrected QT interval (QTc) was estimated using four correction formulas commonly employed in the literature: Bazett, Fridericia, Framingham and Hodges. After extracting the Q, R and T waves from the electrocardiogram of 52 subjects (19 diabetic, 15 with metabolic syndrome and 18 control), using a wavelet-based approach, the RR interval and QT interval were determined. Then, QTc interval was computed using the formulas previously mentioned. Additionally, laboratory test (fasting glucose, cholesterol, triglycerides) were also evaluated. Results show that metabolic syndrome subjects have normal QTc. However, a longer QTc in this population may be a sign of future complication. The corrected QT interval by Fridericia's formula seems to be the most appropriated for metabolic syndrome subjects (low correlation coefficient between RR and QTc). Significant differences were obtained in the blood glucose and triglyceride levels, principally due to the abnormal sugar metabolization of metabolic syndrome and diabetic subjects. Further studies are focused on the acquisition of a larger database of metabolic syndrome and diabetics subjects and the repetition of this study using other populations, like high performance athletes.
NASA Technical Reports Server (NTRS)
1984-01-01
L & M Electronics, Inc.'s telemetry system is used to measure degree and location of abnormal muscle activity. This telemetry was originally used to monitor astronauts vital functions. Leg sensors send wireless signals to computer which develops pictures of gait patterns. System records, measures and analyzes muscle activities in limbs and spine. Computer developed pictures of gait patterns help physicians determine potential of corrective surgery, evaluate various types of braces, or decide whether physical therapy may improve motor functions.
Unusual Manifestations of Myxedema
Berris, Barnet; Owen, Trevor
1965-01-01
Eight cases of myxedema with interesting features are presented. Hypertension is common in myxedema and usually persists when the myxedema is treated. Two patients are reported in whom the hypertension improved with the treatment of the myxedema. Other cases presented with ascites, psychosis, recurrent coma with marked hyponatremia and hypochloremia, ataxia, muscular hypertrophy and myotonia. In each patient the abnormalities were corrected by administration of thyroid hormone. In most instances the mechanism whereby symptoms are produced is poorly understood. PMID:14308905
Homespun remedy, homespun toxicity: baking soda ingestion for dyspepsia.
Ajbani, Keyur; Chansky, Michael E; Baumann, Brigitte M
2011-04-01
A 68-year-old man presented to the Emergency Department with a severe metabolic alkalosis after ingesting large quantities of baking soda to treat his dyspepsia. His underlying pulmonary disease and a progressively worsening mental status necessitated intubation for respiratory failure. Laboratory studies revealed a hyponatremic, hypochloremic, hypokalemic metabolic alkalosis. The patient was successfully treated after cessation of the oral bicarbonate, initiation of intravenous hydration, and correction of electrolyte abnormalities. Copyright © 2011 Elsevier Inc. All rights reserved.
Guerrini, G; Morabito, A; Samaja, M
2000-10-01
The aim is to determine if a single measurement of blood 2,3-diphosphoglycerate combined with gas analysis (pH, PCO2, PO2 and saturation) can identify the cause of an altered blood-oxygen affinity: the presence of an abnormal haemoglobin or a red cell disorder. The population (n=94) was divided into healthy controls (A, n=14), carriers of red cell disorders (B, n=72) and carriers of high oxygen affinity haemoglobins (C, n=8). Those variables were measured both in samples equilibrated at selected PCO2 and PO2 and in venous blood. In the univariable approach applied to equilibrated samples, we correctly identified C subjects in 93.6% or 96.8% of the cases depending on the selected variable, the standard P50 (PO2 at which 50% of haemoglobin is oxygenated) or a composite variable calculated from the above measurements. After introducing the haemoglobin concentration as a further discriminating variable, the A and B subjects were correctly identified in 91.9% or 94.2% of the cases, respectively. These figures become 93.0% or 86.1%, and 93.7% or 94.9% of the cases when using direct readings from venous blood, thereby avoiding the blood equilibration step. This test is feasible also in blood samples stored at 4 degrees C for 48 h, or at room temperature for 8 h.
Wintermark, Pia; Lechpammer, Mirna; Kosaras, Bela; Jensen, Frances E; Warfield, Simon K
2015-10-01
This study aims to evaluate brain perfusion at term in very preterm newborns and newborns with congenital heart disease before their corrective surgery, and to search for histopathological indicators of whether the brain perfusion abnormalities of these newborns may be related to an activated angiogenesis. Using magnetic resonance imaging and arterial spin labeling, regional cerebral blood flow was measured at a term-equivalent age for three very preterm newborns (born at < 32 weeks), one newborn with congenital heart disease before his corrective surgery and three healthy newborns. In addition, a histopathological analysis was performed on a newborn with congenital heart disease. The very preterm newborns and the newborn with congenital heart disease included in this study all displayed an increased signal in their white matter on T2-weighted imaging. The cerebral blood flow of these newborns was increased in their white matter, compared with the healthy term newborns. The vascular endothelial growth factor was overexpressed in the injured white matter of the newborn with congenital heart disease. Brain perfusion may be increased at term in the white matter, in very preterm newborns, and newborns with congenital heart disease, and it correlates with white matter abnormalities on conventional imaging. Georg Thieme Verlag KG Stuttgart · New York.
Tzamaloukas, Antonios H; Ing, Todd S; Elisaf, Moses S; Raj, Dominic S C; Siamopoulos, Kostas C; Rohrscheib, Mark; Murata, Glen H
2011-06-01
The main difference between dialysis-associated hyperglycemia (DH) and diabetic ketoacidosis (DKA) or nonketotic hyperglycemia (NKH) occurring in patients with preserved renal function is the absence of osmotic diuresis in DH, which eliminates the need for large fluid and solute (including potassium) replacement. We analyzed published reports of serum potassium (K(+)) abnormalities and their treatment in DH. Hyperkalemia was often present at presentation of DH with higher frequency and severity than in hyperglycemic syndromes in patients with preserved renal function. The frequency and severity of hyperkalemia were higher in DH episodes with DKA than those with NKH in both hemodialysis and peritoneal dialysis. For DKA, the frequency and severity of hyperkalemia were similar in hemodialysis and peritoneal dialysis. For NKH, hyperkalemia was more severe and frequent in hemodialysis than in peritoneal dialysis. Insulin infusion corrected the hyperkalemia of DH in most cases. Additional measures for the management of hyperkalemia or modest potassium infusions for hypokalemia were needed in a few DH episodes. The predictors of the decrease in serum K(+) during treatment of DH with insulin included the starting serum K(+) level, the decreases in serum values of glucose concentration and tonicity, and the increase in serum total carbon dioxide level. DH represents a risk factor for hyperkalemia. Insulin infusion is the only treatment for hyperkalemia usually required.
Early neurodevelopmental outcomes of infants with intestinal failure.
So, Stephanie; Patterson, Catherine; Gold, Anna; Rogers, Alaine; Kosar, Christina; de Silva, Nicole; Burghardt, Karolina Maria; Avitzur, Yaron; Wales, Paul W
2016-10-01
The survival rate of infants and children with intestinal failure is increasing, necessitating a greater focus on their developmental trajectory. To evaluate neurodevelopmental outcomes in children with intestinal failure at 0-15months corrected age. Analysis of clinical, demographic and developmental assessment results of 33 children followed in an intestinal rehabilitation program between 2011 and 2014. Outcome measures included: Prechtl's Assessment of General Movements, Movement Assessment of Infants, Alberta Infant Motor Scale and Mullen Scales of Early Learning. Clinical factors were correlated with poorer developmental outcomes at 12-15months corrected age. Thirty-three infants (17 males), median gestational age 34weeks (interquartile range 29.5-36.0) with birth weight 1.98kg (interquartile range 1.17-2.50). Twenty-nine (88%) infants had abnormal General Movements. More than half had suspect or abnormal scores on the Alberta Infant Motor Scale and medium to high-risk scores for future neuromotor delay on the Movement Assessment of Infants. Delays were seen across all Mullen subscales, most notably in gross motor skills. Factors significantly associated with poorer outcomes at 12-15months included: prematurity, low birth weight, central nervous system co-morbidity, longer neonatal intensive care admission, necrotizing enterocolitis diagnosis, number of operations and conjugated hyperbilirubinemia. Multiple risk factors contribute to early developmental delay in children with intestinal failure, highlighting the importance of close developmental follow-up. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
N3LO corrections to jet production in deep inelastic scattering using the Projection-to-Born method
NASA Astrophysics Data System (ADS)
Currie, J.; Gehrmann, T.; Glover, E. W. N.; Huss, A.; Niehues, J.; Vogt, A.
2018-05-01
Computations of higher-order QCD corrections for processes with exclusive final states require a subtraction method for real-radiation contributions. We present the first-ever generalisation of a subtraction method for third-order (N3LO) QCD corrections. The Projection-to-Born method is used to combine inclusive N3LO coefficient functions with an exclusive second-order (NNLO) calculation for a final state with an extra jet. The input requirements, advantages, and potential applications of the method are discussed, and validations at lower orders are performed. As a test case, we compute the N3LO corrections to kinematical distributions and production rates for single-jet production in deep inelastic scattering in the laboratory frame, and compare them with data from the ZEUS experiment at HERA. The corrections are small in the central rapidity region, where they stabilize the predictions to sub per-cent level. The corrections increase substantially towards forward rapidity where large logarithmic effects are expected, thereby yielding an improved description of the data in this region.
Lee, Ju-Hyun; McBrayer, Mary Kate; Wolfe, Devin M; Haslett, Luke J; Kumar, Asok; Sato, Yutaka; Lie, Pearl P Y; Mohan, Panaiyur; Coffey, Erin E; Kompella, Uday; Mitchell, Claire H; Lloyd-Evans, Emyr; Nixon, Ralph A
2015-09-01
Presenilin 1 (PS1) deletion or Alzheimer's disease (AD)-linked mutations disrupt lysosomal acidification and proteolysis, which inhibits autophagy. Here, we establish that this phenotype stems from impaired glycosylation and instability of vATPase V0a1 subunit, causing deficient lysosomal vATPase assembly and function. We further demonstrate that elevated lysosomal pH in Presenilin 1 knockout (PS1KO) cells induces abnormal Ca(2+) efflux from lysosomes mediated by TRPML1 and elevates cytosolic Ca(2+). In WT cells, blocking vATPase activity or knockdown of either PS1 or the V0a1 subunit of vATPase reproduces all of these abnormalities. Normalizing lysosomal pH in PS1KO cells using acidic nanoparticles restores normal lysosomal proteolysis, autophagy, and Ca(2+) homeostasis, but correcting lysosomal Ca(2+) deficits alone neither re-acidifies lysosomes nor reverses proteolytic and autophagic deficits. Our results indicate that vATPase deficiency in PS1 loss-of-function states causes lysosomal/autophagy deficits and contributes to abnormal cellular Ca(2+) homeostasis, thus linking two AD-related pathogenic processes through a common molecular mechanism. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.
Osmolar relation between cerebrospinal fluid and serum in hyperosmolar hypernatraemic dehydration.
Habel, A H; Simpson, H
1976-01-01
The relation between cerebrospinal fluid (CSF) and serum osmolality was studied in 16 patients with hyperosmolar hypernatraemic dehydration before treatment. After correcting shock and acidosis, 0-45% saline in 2-5 or 5% dextrose was infused in each patient over a 48- to 72-hour period. During rehydration, serum osmolality, electrolyte concentrations, urea nitrogen, and blood pH were measured sequentially. Five patients developed severe neurological abnormalities within 48 hours of addmission (convulsions 2, convulsions with hemiplegia 2, hemiplegia 1). Of these, 3 had residual defects on follow-up at least one year later. This group was indistinguishable from the 11 without significant neurological abnormality, both on clinical grounds before rehydration, and after analysis of admission and subsequent serum biochemical variables. A significant osmolar gap (greater than 4 mmol/kg H2O) between serum and CSF was found in 13 patients. Severe neurological disturbance only occurred when CSF osmolality exceeded that of serum by 7 or more mmol/kg H2O. Discriminant analysis of the paired osmolar data showed that D = -117+1-74 X(CSF osmolality) -1-41 X (serum osmolality), and that severe neurological abnormality was predicted when D was positive. PMID:11753
The role of completion imaging following carotid artery endarterectomy.
Ricco, Jean-Baptiste; Schneider, Fabrice; Illuminati, Giulio; Samson, Russell H
2013-05-01
A variety of completion imaging methods can be used during carotid endarterectomy to recognize technical errors or intrinsic abnormalities such as mural thrombus or platelet aggregation, but none of these methods has achieved wide acceptance, and their ability to improve the outcome of the operation remains a matter of controversy. It is unclear if completion imaging is routinely necessary and which abnormalities require re-exploration. Proponents of routine completion imaging argue that identification of these abnormalities will allow their immediate correction and avoid a perioperative stroke. However, much of the evidence in favor of this argument is incidental, and many experienced vascular surgeons who perform carotid endarterectomy do not use any completion imaging technique and report equally good outcomes using a careful surgical protocol. Furthermore, certain postoperative strokes, including intracerebral hemorrhage and hyperperfusion syndrome, are unrelated to the surgical technique and cannot be prevented by completion imaging. This controversial subject is now open to discussion, and our debaters have been given the task to clarify the evidence to justify their preferred option for completion imaging during carotid endarterectomy. Copyright © 2013 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.
Hypoparathyroidism: clinical features, skeletal microstructure and parathyroid hormone replacement
Rubin, Mishaela R.; Bilezikian, John P.
2013-01-01
Objective Hypoparathyroidism is a disorder in which parathyroid hormone is deficient in the circulation due most often to immunological destruction of the parathyroids or to their surgical removal. The objective of this work was to define the abnormalities in skeletal microstructure as well as to establish the potential efficacy of PTH(1-84) replacement in this disorder. Subjects and methods Standard histomorphometric and μCT analyses were performed on iliac crest bone biopsies obtained from patients with hypoparathyroidism. Participants were treated with PTH(1-84) for two years. Results Bone density was increased and skeletal features reflected the low turnover state with greater BV/TV, Tb. Wi and Ct. Wi as well as suppressed MS and BFR/BS as compared to controls. With PTH(1-84), bone turnover and bone mineral density increased in the lumbar spine. Requirements for calcium and vitamin D fell while serum and urinary calcium concentrations did not change. Conclusion Abnormal microstructure of the skeleton in hypoparathyroidism reflects the absence of PTH. Replacement therapy with PTH has the potential to correct these abnormalities as well as to reduce the requirements for calcium and vitamin D. PMID:20485912
Civier, Oren; Bullock, Daniel; Max, Ludo; Guenther, Frank H.
2013-01-01
A typical white-matter integrity and elevated dopamine levels have been reported for individuals who stutter. We investigated how such abnormalities may lead to speech dysfluencies due to their effects on a syllable-sequencing circuit that consists of basal ganglia (BG), thalamus, and left ventral premotor cortex (vPMC). “Neurally impaired” versions of the neurocomputational speech production model GODIVA were utilized to test two hypotheses: (1) that white-matter abnormalities disturb the circuit via corticostriatal projections carrying copies of executed motor commands, and (2) that dopaminergic abnormalities disturb the circuit via the striatum. Simulation results support both hypotheses: in both scenarios, the neural abnormalities delay readout of the next syllable’s motor program, leading to dysfluency. The results also account for brain imaging findings during dysfluent speech. It is concluded that each of the two abnormality types can cause stuttering moments, probably by affecting the same BG-thalamus-vPMC circuit. PMID:23872286
9 CFR 416.15 - Corrective Actions.
Code of Federal Regulations, 2010 CFR
2010-01-01
... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Corrective Actions. 416.15 Section 416... SANITATION § 416.15 Corrective Actions. (a) Each official establishment shall take appropriate corrective... the procedures specified therein, or the implementation or maintenance of the Sanitation SOP's, may...
Sensory Eye Dominance in Treated Anisometropic Amblyopia
Chen, Yao
2017-01-01
Amblyopia results from inadequate visual experience during the critical period of visual development. Abnormal binocular interactions are believed to play a critical role in amblyopia. These binocular deficits can often be resolved, owing to the residual visual plasticity in amblyopes. In this study, we quantitatively measured the sensory eye dominance in treated anisometropic amblyopes to determine whether they had fully recovered. Fourteen treated anisometropic amblyopes with normal or corrected to normal visual acuity participated, and their sensory eye dominance was assessed by using a binocular phase combination paradigm. We found that the two eyes were unequal in binocular combination in most (11 out of 14) of our treated anisometropic amblyopes, but none of the controls. We concluded that the treated anisometropic amblyopes, even those with a normal range of visual acuity, exhibited abnormal binocular processing. Our results thus suggest that there is potential for improvement in treated anisometropic amblyopes that may further enhance their binocular visual functioning. PMID:28573051
[Malrotation with or without volvulus].
Heidsma, Charlotte M; Hulsker, Caroline C C; van der Zee, David; Kramer, William H
2015-01-01
Malrotation occurs when there is a failure in the intestinal rotation leading to abnormal fixation to the abdominal wall and a mesentery with a short root. Volvulus is a life-threatening complication of malrotation. It can lead to irreversible intestinal necrosis and requires immediate attention. Early recognition of malrotation and surgical correction could prevent the onset of volvulus. We describe 3 cases of children with a malrotation. Case A involves a 2-year-old boy who suffered from repeated episodes of vomiting. Case B, a 1-month-old female, was taken to the general practitioner after acute onset of crying and flexing of the legs. Case C, a 5-year-old-boy with no medical history, had started vomiting hourly. In presenting these 3 cases, we highlight the dangers of untreated malrotation and make recommendations on how to manage a patient suspected of having this congenital abnormality.
Johnson, Gary; Smith, Joanne; Peddie, Jim; Peddie, Linda; DeMarco, Joe; Wiedner, Ellen
2018-03-01
This report describes the use of custom-made, glue-on shoes for the front feet of two female adult Asian elephants ( Elephas maximus) with conformational abnormalities. Both elephants had unequal leg lengths. The first elephant also had bilateral fetlock varus causing recurrent nail infections of the fourth digits of the front feet. The second elephant displayed weight shifting. Over several years, multiple shoe prototypes were tested. The current version is made of two types of shoe rubber, glued together and attached to the pad of the shorter leg with a liquid adhesive. The first elephant also has bilateral wedge pads to offload pressure from the fourth nails. The shoes are removed each month for foot care, then replaced. Within several months of wearing shoes, the first elephant's nail infections healed and the second elephant stopped weight shifting. Both elephants' gaits became smoother. This is the first description of corrective shoeing in elephants.
Evaluation of cardiac auscultation skills in pediatric residents.
Kumar, Komal; Thompson, W Reid
2013-01-01
Auscultation skills are in decline, but few studies have shown which specific aspects are most difficult for trainees. We evaluated individual aspects of cardiac auscultation among pediatric residents using recorded heart sounds to determine which elements pose the most difficulty. Auscultation proficiency was assessed among 34 trainees following a pediatric cardiology rotation using an open-set format evaluation module, similar to the actual clinical auscultation description process. Diagnostic accuracy for distinguishing normal from abnormal cases was 73%. Findings most commonly correctly identified included pathological systolic and diastolic murmurs and widely split second heart sounds. Those least likely to be identified included continuous murmurs and clicks. Accuracy was low for identifying specific diagnoses. Given time constraints for clinical skills teaching, this suggests that focusing on distinguishing normal from abnormal heart sounds and murmurs instead of making specific diagnoses may be a more realistic goal for pediatric resident auscultation training.
Resistance exercise-induced rhabdomyolysis: Need for immediate intervention and proper counselling.
Khalil, Maysaa A; Saab, Basem R
2016-12-01
Rhabdomyolysis results from damage to skeletal muscle. Improper resistance training may result in rhabdomyolysis, which can cause acute kidney injury, serious metabolic abnormalities, compartmental syndrome and even death. Proper counselling for athletes may prevent this condition. We present two patients with unilateral swelling after resistance exercise. The workup revealed rhabdomyolysis. We highlight the importance of counselling to prevent rhabdomyolysis secondary to resistance exercise. Trainers and primary care physicians need to be educated about the main features of rhabdomyolysis and urgently refer trainees suspected of having this condition. Treatment consists mainly of hydration and correction of metabolic abnormalities. Primary care physicians need to counsel patients on ways to prevent rhabdomyolysis. Trainers and primary care physicians should instruct novice trainees who are performing resistance exercise to start low and gradually increase the load. Training with loads of 60-70% of one repetition maximum for 8-12 repetitions and use of one to three sets per exercise is recommended.
The development and initial validation of a sensitive bedside cognitive screening test.
Faust, D; Fogel, B S
1989-01-01
Brief bedside cognitive examinations such as the Mini-Mental State Examination are designed to detect delirium and dementia but not more subtle or delineated cognitive deficits. Formal neuropsychological evaluation provides greater sensitivity and detects a wider range of cognitive deficits but is too lengthy for efficient use at the bedside or in epidemiological studies. The authors developed the High Sensitivity Cognitive Screen (HSCS), a 20-minute interview-based test, to identify patients who show disorder on formal neuropsychological evaluation. An initial study demonstrated satisfactory test-retest and interrater reliability. The HSCS was then administered to 60 psychiatric and neurological patients with suspected cognitive deficits but without gross impairment, who also completed formal neuropsychological testing. Results of both tests were independently classified as either normal, borderline, or abnormal. The HSCS correctly classified 93% of patients across the normal-abnormal dichotomy and showed promise for characterizing the extent and severity of cognitive dysfunction.
Wang, Lei; Beg, Faisal; Ratnanather, Tilak; Ceritoglu, Can; Younes, Laurent; Morris, John C.; Csernansky, John G.; Miller, Michael I.
2010-01-01
In large-deformation diffeomorphic metric mapping (LDDMM), the diffeomorphic matching of images are modeled as evolution in time, or a flow, of an associated smooth velocity vector field v controlling the evolution. The initial momentum parameterizes the whole geodesic and encodes the shape and form of the target image. Thus, methods such as principal component analysis (PCA) of the initial momentum leads to analysis of anatomical shape and form in target images without being restricted to small-deformation assumption in the analysis of linear displacements. We apply this approach to a study of dementia of the Alzheimer type (DAT). The left hippocampus in the DAT group shows significant shape abnormality while the right hippocampus shows similar pattern of abnormality. Further, PCA of the initial momentum leads to correct classification of 12 out of 18 DAT subjects and 22 out of 26 control subjects. PMID:17427733
27 CFR 1.55 - Recalling permits for correction.
Code of Federal Regulations, 2010 CFR
2010-04-01
... 27 Alcohol, Tobacco Products and Firearms 1 2010-04-01 2010-04-01 false Recalling permits for correction. 1.55 Section 1.55 Alcohol, Tobacco Products and Firearms ALCOHOL AND TOBACCO TAX AND TRADE BUREAU... upon demand of the appropriate TTB officer. ...
78 FR 20244 - Product Valuation
Federal Register 2010, 2011, 2012, 2013, 2014
2013-04-04
... DEPARTMENT OF THE INTERIOR Office of Natural Resources Revenue 30 CFR Part 1206 Product Valuation CFR Correction In FR Doc. 2013-07512, appearing on page 19100, in the Federal Register of Friday, March 29, 2013, the subagency heading ``Surface Mining Reclamation and Enforcement'' is corrected to...
Prevalence and consequences of chromosomal abnormalities in Canadian commercial swine herds.
Quach, Anh T; Revay, Tamas; Villagomez, Daniel A F; Macedo, Mariana P; Sullivan, Alison; Maignel, Laurence; Wyss, Stefanie; Sullivan, Brian; King, W Allan
2016-09-12
Structural chromosome abnormalities are well known as factors that reduce fertility rate in domestic pigs. According to large-scale national cytogenetic screening programs that are implemented in France, it is estimated that new chromosome abnormalities occur at a rate of 0.5 % in fertility-unproven boars. This work aimed at estimating the prevalence and consequences of chromosome abnormalities in commercial swine operations in Canada. We found pig carriers at a frequency of 1.64 % (12 out of 732 boars). Carrier pigs consistently showed lower fertility values. The total number of piglets born for litters from carrier boars was between 4 and 46 % lower than the herd average. Similarly, carrier boars produced litters with a total number of piglets born alive that was between 6 and 28 % lower than the herd average. A total of 12 new structural chromosome abnormalities were identified. Reproductive performance is significantly reduced in sires with chromosome abnormalities. The incidence of such abnormal sires appears relatively high in populations without routine cytogenetic screening such as observed for Canada in this study. Systematic cytogenetic screening of potential breeding boars would minimise the risk of carriers of chromosome aberrations entering artificial insemination centres. This would avoid the large negative effects on productivity for the commercial sow herds and reduce the risk of transmitting abnormalities to future generations in nucleus farms.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Beggs, A.H.; Neumann, P.E.; Anderson, M.S.
1992-01-15
Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3,500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, the authors propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative tomore » Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.« less
Cone Photoreceptor Abnormalities Correlate with Vision Loss in Patients with Stargardt Disease
Chen, Yingming; Ratnam, Kavitha; Sundquist, Sanna M.; Lujan, Brandon; Ayyagari, Radha; Gudiseva, V. Harini; Roorda, Austin
2011-01-01
Purpose. To study the relationship between macular cone structure, fundus autofluorescence (AF), and visual function in patients with Stargardt disease (STGD). Methods. High-resolution images of the macula were obtained with adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography in 12 patients with STGD and 27 age-matched healthy subjects. Measures of retinal structure and AF were correlated with visual function, including best-corrected visual acuity, color vision, kinetic and static perimetry, fundus-guided microperimetry, and full-field electroretinography. Mutation analysis of the ABCA4 gene was completed in all patients. Results. Patients were 15 to 55 years old, and visual acuity ranged from 20/25–20/320. Central scotomas were present in all patients, although the fovea was spared in three patients. The earliest cone spacing abnormalities were observed in regions of homogeneous AF, normal visual function, and normal outer retinal structure. Outer retinal structure and AF were most normal near the optic disc. Longitudinal studies showed progressive increases in AF followed by reduced AF associated with losses of visual sensitivity, outer retinal layers, and cones. At least one disease-causing mutation in the ABCA4 gene was identified in 11 of 12 patients studied; 1 of 12 patients showed no disease-causing ABCA4 mutations. Conclusions. AOSLO imaging demonstrated abnormal cone spacing in regions of abnormal fundus AF and reduced visual function. These findings provide support for a model of disease progression in which lipofuscin accumulation results in homogeneously increased AF with cone spacing abnormalities, followed by heterogeneously increased AF with cone loss, then reduced AF with cone and RPE cell death. (ClinicalTrials.gov number, NCT00254605.) PMID:21296825
Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.
Fabre, Alexandre; Bourgeois, Patrice; Coste, Marie-Edith; Roman, Céline; Barlogis, Vincent; Badens, Catherine
2017-08-01
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of TTC37 , 14 of SKIV2L . Parenteral nutrition was used in the management of 83% of the patients and weaned in 44% (mean duration of 14.97 months). Immunoglobulins were used in 33 patients, but data on efficacy was reported for 6 patients with a diminution of infection ( n = 3) or diarrhea reduction ( n = 2). Antibiotics ( n = 11) provided no efficacy. Steroids ( n = 17) and immunosuppressant drugs ( n = 13) were used with little efficacy and mostly in patients with IBD-like SD/THE. Hematopoietic stem cell transplantation (HSCT) was performed in 4 patients: 2 died, for one it corrected the immune defects but not the other features and for the last one, it provided only a partial improvement. Finally, no specific diet was effective except for some contradictory reports for elemental formula. In conclusion, the management of SD/THE mainly involves parenteral nutrition and immunoglobulin supplementation. Antibiotics, steroids, immunosuppressants, and HSCT are not recommended as principle treatments since there is no evidence of efficacy.
Pulse wave velocity and cardiac autonomic function in type 2 diabetes mellitus.
Chorepsima, Stamatina; Eleftheriadou, Ioanna; Tentolouris, Anastasios; Moyssakis, Ioannis; Protogerou, Athanasios; Kokkinos, Alexandros; Sfikakis, Petros P; Tentolouris, Nikolaos
2017-05-19
Increased carotid-femoral pulse wave velocity (PWV) has been associated with incident cardiovascular disease, independently of traditional risk factors. Cardiac autonomic dysfunction is a common complication of diabetes and has been associated with reduced aortic distensibility. However, the association of cardiac autonomic dysfunction with PWV is not known. In this study we examined the association between cardiac autonomic function and PWV in subjects with type 2 diabetes mellitus. A total of 290 patients with type 2 diabetes were examined. PWV was measured at the carotid-femoral segment with applanation tonometry. Central mean arterial blood pressure (MBP) was determined by the same apparatus. Participants were classified as having normal (n = 193) or abnormal (n = 97) PWV values using age-corrected values. Cardiac autonomic nervous system activity was determined by measurement of parameters of heart rate variability (HRV). Subjects with abnormal PWV were older, had higher arterial blood pressure and higher heart rate than those with normal PWV. Most of the values of HRV were significantly lower in subjects with abnormal than in those with normal PWV. Multivariate analysis, after controlling for various confounding factors, demonstrated that abnormal PWV was associated independently only with peripheral MBP [odds ratio (OR) 1.049, 95% confidence intervals (CI) 1.015-1.085, P = 0.005], central MBP (OR 1.052, 95% CI 1.016-1.088, P = 0.004), log total power (OR 0.490, 95% CI 0.258-0.932, P = 0.030) and log high frequency power (OR 0.546, 95% CI 0.301-0.991, P = 0.047). In subjects with type 2 diabetes, arterial blood pressure and impaired cardiac autonomic function is associated independently with abnormal PWV.
Venlet, Jeroen; Piers, Sebastiaan R D; Kapel, Gijsbert F L; de Riva, Marta; Pauli, Philippe F G; van der Geest, Rob J; Zeppenfeld, Katja
2017-08-01
Low endocardial unipolar voltage (UV) at sites with normal bipolar voltage (BV) may indicate epicardial scar. Currently applied UV cutoff values are based on studies that lacked epicardial fat information. This study aimed to define endocardial UV cutoff values using computed tomography-derived fat information and to analyze their clinical value for right ventricular substrate delineation. Thirty-three patients (50±14 years; 79% men) underwent combined endocardial-epicardial right ventricular electroanatomical mapping and ablation of right ventricular scar-related ventricular tachycardia with computed tomographic image integration, including computed tomography-derived fat thickness. Of 6889 endocardial-epicardial mapping point pairs, 547 (8%) pairs with distance <10 mm and fat thickness <1.0 mm were analyzed for voltage and abnormal (fragmented/late potential) electrogram characteristics. At sites with endocardial BV >1.50 mV, the optimal endocardial UV cutoff for identification of epicardial BV <1.50 mV was 3.9 mV (area under the curve, 0.75; sensitivity, 60%; specificity, 79%) and cutoff for identification of abnormal epicardial electrogram was 3.7 mV (area under the curve, 0.88; sensitivity, 100%; specificity, 67%). The majority of abnormal electrograms (130 of 151) were associated with transmural scar. Eighty-six percent of abnormal epicardial electrograms had corresponding endocardial sites with BV <1.50 mV, and the remaining could be identified by corresponding low endocardial UV <3.7 mV. For identification of epicardial right ventricular scar, an endocardial UV cutoff value of 3.9 mV is more accurate than previously reported cutoff values. Although the majority of epicardial abnormal electrograms are associated with transmural scar with low endocardial BV, the additional use of endocardial UV at normal BV sites improves the diagnostic accuracy resulting in identification of all epicardial abnormal electrograms at sites with <1.0 mm fat. © 2017 American Heart Association, Inc.
Mitry, Danny; Peto, Tunde; Hayat, Shabina; Morgan, James E; Khaw, Kay-Tee; Foster, Paul J
2013-01-01
Crowdsourcing is the process of outsourcing numerous tasks to many untrained individuals. Our aim was to assess the performance and repeatability of crowdsourcing for the classification of retinal fundus photography. One hundred retinal fundus photograph images with pre-determined disease criteria were selected by experts from a large cohort study. After reading brief instructions and an example classification, we requested that knowledge workers (KWs) from a crowdsourcing platform classified each image as normal or abnormal with grades of severity. Each image was classified 20 times by different KWs. Four study designs were examined to assess the effect of varying incentive and KW experience in classification accuracy. All study designs were conducted twice to examine repeatability. Performance was assessed by comparing the sensitivity, specificity and area under the receiver operating characteristic curve (AUC). Without restriction on eligible participants, two thousand classifications of 100 images were received in under 24 hours at minimal cost. In trial 1 all study designs had an AUC (95%CI) of 0.701(0.680-0.721) or greater for classification of normal/abnormal. In trial 1, the highest AUC (95%CI) for normal/abnormal classification was 0.757 (0.738-0.776) for KWs with moderate experience. Comparable results were observed in trial 2. In trial 1, between 64-86% of any abnormal image was correctly classified by over half of all KWs. In trial 2, this ranged between 74-97%. Sensitivity was ≥ 96% for normal versus severely abnormal detections across all trials. Sensitivity for normal versus mildly abnormal varied between 61-79% across trials. With minimal training, crowdsourcing represents an accurate, rapid and cost-effective method of retinal image analysis which demonstrates good repeatability. Larger studies with more comprehensive participant training are needed to explore the utility of this compelling technique in large scale medical image analysis.
9 CFR 416.15 - Corrective Actions.
Code of Federal Regulations, 2011 CFR
2011-01-01
... 9 Animals and Animal Products 2 2011-01-01 2011-01-01 false Corrective Actions. 416.15 Section 416... SANITATION § 416.15 Corrective Actions. (a) Each official establishment shall take appropriate corrective action(s) when either the establishment or FSIS determines that the establishment's Sanitation SOP's or...
Deriving Albedo from Coupled MERIS and MODIS Surface Products
NASA Technical Reports Server (NTRS)
Gao, Feng; Schaaf, Crystal; Jin, Yu-Fang; Lucht, Wolfgang; Strahler, Alan
2004-01-01
MERIS Level 2 surface reflectance products are now available to the scientific community. This paper demonstrates the production of MERIS-derived surface albedo and Nadir Bidirectional Reflectance Distribution Function (BRDF) adjusted reflectances by coupling the MERIS data with MODIS BRDF products. Initial efforts rely on the specification of surface anisotropy as provided by the global MODIS BRDF product for a first guess of the shape of the BRDF and then make use all of the coincidently available, partially atmospherically corrected, cloud cleared, MERIS observations to generate MERIS-derived BRDF and surface albedo quantities for each location. Comparisons between MODIS (aerosol-corrected) and MERIS (not-yet aerosol-corrected) surface values from April and May 2003 are also presented for case studies in Spain and California as well as preliminary comparisons with field data from the Devil's Rock Surfrad/BSRN site.
Campbell, John M.; Wackeroth, Doreen; Zhou, Jia
2016-11-29
Electroweak (EW) corrections can be enhanced at high energies due to the soft or collinear radiation of virtual and real W and Z bosons that result in Sudakov-like corrections of the form αmore » $$l\\atop{W}$$log n(Q 2/M2$$\\atop{W,Z}$$), where α W=α/(4π sin 2θ W) and n ≤ 2l-1. The inclusion of EW corrections in predictions for hadron colliders is, therefore, especially important when searching for signals of possible new physics in distributions probing the kinematic regime Q 2>>M$$2\\atop{V}$$. Next-to-leading order (NLO) EW corrections should also be taken into account when their size [O(α)] is comparable to that of QCD corrections at next-to-next-to-leading order (NNLO) [O(α$$2\\atop{s}$$)]. To this end, we have implemented the NLO weak corrections to the neutral-current Drell-Yan process, top-quark pair production and dijet production in the parton-level Monte Carlo program MCFM. This enables a combined study with the corresponding QCD corrections at NLO and NNLO. We provide both the full NLO weak corrections and their Sudakov approximation since the latter is often used for a fast evaluation of weak effects at high energies and can be extended to higher orders. Finally, with both the exact and approximate results at hand, the validity of the Sudakov approximation can be readily quantified.« less
Impact and Implementation of Higher-Order Ionospheric Effects on Precise GNSS Applications
NASA Astrophysics Data System (ADS)
Hadas, T.; Krypiak-Gregorczyk, A.; Hernández-Pajares, M.; Kaplon, J.; Paziewski, J.; Wielgosz, P.; Garcia-Rigo, A.; Kazmierski, K.; Sosnica, K.; Kwasniak, D.; Sierny, J.; Bosy, J.; Pucilowski, M.; Szyszko, R.; Portasiak, K.; Olivares-Pulido, G.; Gulyaeva, T.; Orus-Perez, R.
2017-11-01
High precision Global Navigation Satellite Systems (GNSS) positioning and time transfer require correcting signal delays, in particular higher-order ionospheric (I2+) terms. We present a consolidated model to correct second- and third-order terms, geometric bending and differential STEC bending effects in GNSS data. The model has been implemented in an online service correcting observations from submitted RINEX files for I2+ effects. We performed GNSS data processing with and without including I2+ corrections, in order to investigate the impact of I2+ corrections on GNSS products. We selected three time periods representing different ionospheric conditions. We used GPS and GLONASS observations from a global network and two regional networks in Poland and Brazil. We estimated satellite orbits, satellite clock corrections, Earth rotation parameters, troposphere delays, horizontal gradients, and receiver positions using global GNSS solution, Real-Time Kinematic (RTK), and Precise Point Positioning (PPP) techniques. The satellite-related products captured most of the impact of I2+ corrections, with the magnitude up to 2 cm for clock corrections, 1 cm for the along- and cross-track orbit components, and below 5 mm for the radial component. The impact of I2+ on troposphere products turned out to be insignificant in general. I2+ corrections had limited influence on the performance of ambiguity resolution and the reliability of RTK positioning. Finally, we found that I2+ corrections caused a systematic shift in the coordinate domain that was time- and region-dependent and reached up to -11 mm for the north component of the Brazilian stations during the most active ionospheric conditions.
Development of Implicit Compact Methods for Chemically Reacting Flows
2009-02-28
NSP_P), DKt (NSP_P), & ! stoichiometric coeffs (# mols produced/destroyed) & NUK(NSP_P), & ! mass coeffs: NUK(k)*WK(k) & NUKWK(NSP_P), & & WK... DKt UC UCr wc WCz NUK NUKWK ! (nu_0 sstoich Yfuel Yox Yfuel_F Yox_A Z PHI omega SOURCE q HEAT = SpecificHeat(T) = 0 .do...RHO*T) dot_product(DK,YKr) ! correction vel. for mass conservation dot_product(DK,YKrr)+dot_product(( DKt *Tr),YKr) dot_product(DK,YKz) ! correction
DOE Office of Scientific and Technical Information (OSTI.GOV)
Swanson, James
The Dopamine (DA) Hypothesis of ADHD (Wender, 1971; Levy, 1990) suggests that abnormalities in the synaptic mechanisms of DA transmission may be disrupted, and specific abnormalities in DA receptors and DA transporters (DAT) have been proposed (see Swanson et al, 1998). Early studies with small samples (e.g., n = 6, Dougherty et al, 1999) used single photon emission tomography (SPECT) and the radioligand (123I Altropane) to test a theory that ADHD may be caused by an over expression of DAT and reported 'a 70% increase in age-corrected dopamine transporter density in patients with attention deficit hyperactivity disorder compared with healthymore » controls' and suggested that treatment with stimulant medication decreased DAT density in ADHD patients and corrected an underlying abnormality (Krause et al, 2000). The potential importance of these findings was noted by Swanson (1999): 'If true, this is a major finding and points the way for new investigations of the primary pharmacological treatment for ADHD (with the stimulant drugs - e.g., methylphenidate), for which the dopamine transporter is the primary site of action. The potential importance of this finding demands special scrutiny'. This has been provided over the past decade using Positron Emission Tomography (PET). Brain imaging studies were conducted at Brookhaven National Laboratory (BNL) in a relatively large sample of stimulant-naive adults assessed for DAT (11C cocaine) density and DA receptors (11C raclopride) availability. These studies (Volkow et al, 2007; Volkow et al, 2009) do not confirm the hypothesis of increased DAT density and suggest the opposite (i.e., decreased rather than increased DAT density), and follow-up after treatment (Wang et al, 2010) does not confirm the hypothesis that therapeutic doses of methylphenidate decrease DAT density and suggests the opposite (i.e., increased rather than decreased DAT density). The brain regions implicated by these PET imaging studies also suggest that a motivation deficit may contribute as much as an attention deficit to the manifestation of behaviors that underlie the symptoms of ADHD.« less
Calkoen, Emmeline E; Elbaz, Mohammed S M; Westenberg, Jos J M; Kroft, Lucia J M; Hazekamp, Mark G; Roest, Arno A W; van der Geest, Rob J
2015-11-01
During normal left ventricular (LV) filling, a vortex ring structure is formed distal to the left atrioventricular valve (LAVV). Vortex structures contribute to efficient flow organization. We aimed to investigate whether LAVV abnormality in patients with a corrected atrioventricular septal defect (AVSD) has an impact on vortex ring formation. Whole-heart 4D flow MRI was performed in 32 patients (age: 26 ± 12 years), and 30 healthy subjects (age: 25 ± 14 years). Vortex ring cores were detected at peak early (E-peak) and peak late filling (A-peak). When present, the 3-dimensional position and orientation of the vortex ring was defined, and the circularity index was calculated. Through-plane flow over the LAVV, and the vortex formation time (VFT), were quantified to analyze the relationship of vortex flow with the inflow jet. Absence of a vortex ring during E-peak (healthy subjects 0%, vs patients 19%; P = .015), and A-peak (healthy subjects 10% vs patients 44%; P = .008) was more frequent in patients. In 4 patients, this was accompanied by a high VFT (5.1-7.8 vs 2.4 ± 0.6 in healthy subjects), and in another 2 patients with abnormal valve anatomy. In patients compared with controls, the vortex cores had a more-anterior and apical position, closer to the ventricular wall, with a more-elliptical shape and oblique orientation. The shape of the vortex core closely resembled the valve shape, and its orientation was related to the LV inflow direction. This study quantitatively shows the influence of abnormal LAVV and LV inflow on 3D vortex ring formation during LV inflow in patients with corrected AVSD, compared with healthy subjects. Copyright © 2015. Published by Elsevier Inc.
Evaluation of the Dopamine Hypothesis of ADHD with PET Brain Imaging
Swanson, James
2018-01-24
The Dopamine (DA) Hypothesis of ADHD (Wender, 1971; Levy, 1990) suggests that abnormalities in the synaptic mechanisms of DA transmission may be disrupted, and specific abnormalities in DA receptors and DA transporters (DAT) have been proposed (see Swanson et al, 1998). Early studies with small samples (e.g., n = 6, Dougherty et al, 1999) used single photon emission tomography (SPECT) and the radioligand (123I Altropane) to test a theory that ADHD may be caused by an over expression of DAT and reported 'a 70% increase in age-corrected dopamine transporter density in patients with attention deficit hyperactivity disorder compared with healthy controls' and suggested that treatment with stimulant medication decreased DAT density in ADHD patients and corrected an underlying abnormality (Krause et al, 2000). The potential importance of these findings was noted by Swanson (1999): 'If true, this is a major finding and points the way for new investigations of the primary pharmacological treatment for ADHD (with the stimulant drugs - e.g., methylphenidate), for which the dopamine transporter is the primary site of action. The potential importance of this finding demands special scrutiny'. This has been provided over the past decade using Positron Emission Tomography (PET). Brain imaging studies were conducted at Brookhaven National Laboratory (BNL) in a relatively large sample of stimulant-naive adults assessed for DAT (11C cocaine) density and DA receptors (11C raclopride) availability. These studies (Volkow et al, 2007; Volkow et al, 2009) do not confirm the hypothesis of increased DAT density and suggest the opposite (i.e., decreased rather than increased DAT density), and follow-up after treatment (Wang et al, 2010) does not confirm the hypothesis that therapeutic doses of methylphenidate decrease DAT density and suggests the opposite (i.e., increased rather than decreased DAT density). The brain regions implicated by these PET imaging studies also suggest that a motivation deficit may contribute as much as an attention deficit to the manifestation of behaviors that underlie the symptoms of ADHD.
Omura, Yoshiaki; Hines, Howard; Jones, Marilyn; O'Young, Brian; Duvvi, Harsha; Lu, Dominic P; Pallos, Andrew; Shimotsuura, Yasuhiro; Ohki, Motomu
2010-01-01
We examined patients wearing a metal ring on the left 4th finger with abnormally increased Cardiac Troponin I (which is known to increase in the presence of myocardial injury or left ventricular hypertrophy) of 5-14ng BDORT units (depending on the ring and individual) at left ventricle compared with normal value of 1ng BDORT units or less. Although shape of the ECG does not change significantly regardless of whether metal rings are on or not, when rings are on, the Bi-Digital O-Ring Test evaluation of trace of ECG revealed "Vulnerable Period of Rising Part of T-wave" of ECG waves (which correspond to the left ventricle and AV node) become abnormal with increased Cardiac Troponin I. DHEA in various parts of the body reduced significantly and maximum decrease in DHEA was found when metal ring was on the left 4th and 5th fingers. Telomere reduced with each of the 5 fingers, but the 2nd, 4th, and 5th fingers produced the maximum reduction of telomere. When metal ring was inserted onto the left 1st finger and left 2nd finger, Cardiac Troponin I did not change significantly. Additional abnormality was found when patients with cancer wore metal ring(s); namely both Cardiac Troponin I and cancer parameters, such as Integrin α₅β₁[corrected] and Oncogen C-fos Ab2, increase anywhere between 4-12 times. However, when the ring was cut, creating a 1mm or longer empty space, no increase in cancer markers and Cardiac Troponin I were observed. Similar findings were found with metal bracelets.
Retinal dysfunction and refractive errors: an electrophysiological study of children
Flitcroft, D I; Adams, G G W; Robson, A G; Holder, G E
2005-01-01
Aims: To evaluate the relation between refractive error and electrophysiological retinal abnormalities in children referred for investigation of reduced vision. Methods: The study group comprised 123 consecutive patients referred over a 14 month period from the paediatric service of Moorfields Eye Hospital for electrophysiological investigation of reduced vision. Subjects were divided into five refractive categories according to their spectacle correction: high myopia (⩽−6D), low myopia (>−6D and ⩽−0.75D), emmetropia (>−0.75 and <1.5D), low hyperopia (⩾1.5 and <6D), and high hyperopia (⩾6D). Patients with a specific diagnosis at the time of electrophysiological testing were excluded. Only the first member of any one family was included if more than one sibling had been tested. All tests were performed to incorporate ISCEV standards, using gold foil corneal electrodes where possible. In younger patients skin electrodes and an abbreviated protocol were employed. Results: The mean age of patients was 7.1 years with an overall incidence of abnormal electrophysiological findings of 29.3%. The incidence of abnormality was higher in high ametropes (13/25, 52%) compared to the other groups (23/98, 23.5%). This difference was statistically significant (χ2 test, p = 0.005). There was also a significant association between high astigmatism (>1.5D) and ERG abnormalities (18/35 with high astigmatism v 20/88 without, χ2 test, p = 0.002). There was no significant variation in frequency of abnormalities between low myopes, emmetropes, and low hyperopes. The rate of abnormalities was very similar in both high myopes (8/15) and high hyperopes (5/10). Conclusions: High ametropia and astigmatism in children being investigated for poor vision are associated with a higher rate of retinal electrophysiological abnormalities. An increased rate of refractive errors in the presence of retinal pathology is consistent with the hypothesis that the retina is involved in the process of emmetropisation. Electrophysiological testing should be considered in cases of high ametropia in childhood to rule out associated retinal pathology. PMID:15774929
Next-to-leading-order QCD and electroweak corrections to WWW production at proton-proton colliders
NASA Astrophysics Data System (ADS)
Dittmaier, Stefan; Huss, Alexander; Knippen, Gernot
2017-09-01
Triple-W-boson production in proton-proton collisions allows for a direct access to the triple and quartic gauge couplings and provides a window to the mechanism of electroweak symmetry breaking. It is an important process to test the Standard Model (SM) and might be background to physics beyond the SM. We present a calculation of the next-to-leading order (NLO) electroweak corrections to the production of WWW final states at proton-proton colliders with on-shell W bosons and combine the electroweak with the NLO QCD corrections. We study the impact of the corrections to the integrated cross sections and to kinematic distributions of the W bosons. The electroweak corrections are generically of the size of 5-10% for integrated cross sections and become more pronounced in specific phase-space regions. The real corrections induced by quark-photon scattering turn out to be as important as electroweak loops and photon bremsstrahlung corrections, but can be reduced by phase-space cuts. Considering that prior determinations of the photon parton distribution function (PDF) involve rather large uncertainties, we compare the results obtained with different photon PDFs and discuss the corresponding uncertainties in the NLO predictions. Moreover, we determine the scale and total PDF uncertainties at the LHC and a possible future 100 TeV pp collider.
Orbit-product representation and correction of Gaussian belief propagation
DOE Office of Scientific and Technical Information (OSTI.GOV)
Johnson, Jason K; Chertkov, Michael; Chernyak, Vladimir
We present a new interpretation of Gaussian belief propagation (GaBP) based on the 'zeta function' representation of the determinant as a product over orbits of a graph. We show that GaBP captures back-tracking orbits of the graph and consider how to correct this estimate by accounting for non-backtracking orbits. We show that the product over non-backtracking orbits may be interpreted as the determinant of the non-backtracking adjacency matrix of the graph with edge weights based on the solution of GaBP. An efficient method is proposed to compute a truncated correction factor including all non-backtracking orbits up to a specified length.
21 CFR 123.7 - Corrective actions.
Code of Federal Regulations, 2010 CFR
2010-04-01
... 21 Food and Drugs 2 2010-04-01 2010-04-01 false Corrective actions. 123.7 Section 123.7 Food and... CONSUMPTION FISH AND FISHERY PRODUCTS General Provisions § 123.7 Corrective actions. (a) Whenever a deviation from a critical limit occurs, a processor shall take corrective action either by: (1) Following a...
9 CFR 417.3 - Corrective actions.
Code of Federal Regulations, 2011 CFR
2011-01-01
... 9 Animals and Animal Products 2 2011-01-01 2011-01-01 false Corrective actions. 417.3 Section 417... ANALYSIS AND CRITICAL CONTROL POINT (HACCP) SYSTEMS § 417.3 Corrective actions. (a) The written HACCP plan shall identify the corrective action to be followed in response to a deviation from a critical limit...
Abnormal hippocampal shape in offenders with psychopathy.
Boccardi, Marina; Ganzola, Rossana; Rossi, Roberta; Sabattoli, Francesca; Laakso, Mikko P; Repo-Tiihonen, Eila; Vaurio, Olli; Könönen, Mervi; Aronen, Hannu J; Thompson, Paul M; Frisoni, Giovanni B; Tiihonen, Jari
2010-03-01
Posterior hippocampal volumes correlate negatively with the severity of psychopathy, but local morphological features are unknown. The aim of this study was to investigate hippocampal morphology in habitually violent offenders having psychopathy. Manual tracings of hippocampi from magnetic resonance images of 26 offenders (age: 32.5 +/- 8.4), with different degrees of psychopathy (12 high, 14 medium psychopathy based on the Psychopathy Checklist Revised), and 25 healthy controls (age: 34.6 +/- 10.8) were used for statistical modelling of local changes with a surface-based radial distance mapping method. Both offenders and controls had similar hippocampal volume and asymmetry ratios. Local analysis showed that the high psychopathy group had a significant depression along the longitudinal hippocampal axis, on both the dorsal and ventral aspects, when compared with the healthy controls and the medium psychopathy group. The opposite comparison revealed abnormal enlargement of the lateral borders in both the right and left hippocampi of both high and medium psychopathy groups versus controls, throughout CA1, CA2-3 and the subicular regions. These enlargement and reduction effects survived statistical correction for multiple comparisons in the main contrast (26 offenders vs. 25 controls) and in most subgroup comparisons. A statistical check excluded a possible confounding effect from amphetamine and polysubstance abuse. These results indicate that habitually violent offenders exhibit a specific abnormal hippocampal morphology, in the absence of total gray matter volume changes, that may relate to different autonomic modulation and abnormal fear-conditioning. 2009 Wiley-Liss, Inc.
Changes in ion transport in inflammatory disease
Eisenhut, Michael
2006-01-01
Ion transport is essential for maintenance of transmembranous and transcellular electric potential, fluid transport and cellular volume. Disturbance of ion transport has been associated with cellular dysfunction, intra and extracellular edema and abnormalities of epithelial surface liquid volume. There is increasing evidence that conditions characterized by an intense local or systemic inflammatory response are associated with abnormal ion transport. This abnormal ion transport has been involved in the pathogenesis of conditions like hypovolemia due to fluid losses, hyponatremia and hypokalemia in diarrhoeal diseases, electrolyte abnormalites in pyelonephritis of early infancy, septicemia induced pulmonary edema, and in hypersecretion and edema induced by inflammatory reactions of the mucosa of the upper respiratory tract. Components of membranous ion transport systems, which have been shown to undergo a change in function during an inflammatory response include the sodium potassium ATPase, the epithelial sodium channel, the Cystic Fibrosis Transmembrane Conductance Regulator and calcium activated chloride channels and the sodium potassium chloride co-transporter. Inflammatory mediators, which influence ion transport are tumor necrosis factor, gamma interferon, interleukins, transforming growth factor, leukotrienes and bradykinin. They trigger the release of specific messengers like prostaglandins, nitric oxide and histamine which alter ion transport system function through specific receptors, intracellular second messengers and protein kinases. This review summarizes data on in vivo measurements of changes in ion transport in acute inflammatory conditions and in vitro studies, which have explored the underlying mechanisms. Potential interventions directed at a correction of the observed abnormalities are discussed. PMID:16571116
Yu, Shihui; Kielt, Matthew; Stegner, Andrew L; Kibiryeva, Nataliya; Bittel, Douglas C; Cooley, Linda D
2009-12-01
The American College of Medical Genetics guidelines for microarray analysis for constitutional cytogenetic abnormalities require abnormal or ambiguous results from microarray-based comparative genomic hybridization (aCGH) analysis be confirmed by an alternative method. We employed quantitative real-time polymerase chain reaction (qPCR) technology using SYBR Green I reagents for confirmation of 93 abnormal aCGH results (50 deletions and 43 duplications) and 54 parental samples. A novel qPCR protocol using DNA sequences coding for X-linked lethal diseases in males for designing reference primers was established. Of the 81 sets of test primers used for confirmation of 93 abnormal copy number variants (CNVs) in 80 patients, 71 sets worked after the initial primer design (88%), 9 sets were redesigned once, and 1 set twice because of poor amplification. Fifty-four parental samples were tested using 33 sets of test primers to follow up 34 CNVs in 30 patients. Nineteen CNVs were confirmed as inherited, 13 were negative in both parents, and 2 were inconclusive due to a negative result in a single parent. The qPCR assessment clarified aCGH results in two cases and corrected a fluorescence in situ hybridization result in one case. Our data illustrate that qPCR methodology using SYBR Green I reagents is accurate, highly sensitive, specific, rapid, and cost-effective for verification of chromosomal imbalances detected by aCGH in the clinical setting.
Cranberry Products for the Prophylaxis of Urinary Tract Infections in Pediatric Patients.
Durham, Spencer H; Stamm, Pamela L; Eiland, Lea S
2015-12-01
To evaluate the existing data regarding the use of cranberry products for the prevention of urinary tract infections (UTIs) in pediatric patients. A literature search of Medline databases from 1966 to June 2015 was conducted. The databases were searched using the terms "pediatrics," "children," "cranberry," "cranberry juice," and "urinary tract infections." The identified trials were then searched for additional references applicable to this topic. A total of 8 clinical trials were identified that examined the use of cranberry products, mostly juice, for the prevention of UTIs in children. Three trials examined the use in otherwise healthy children. Five trials examined the use in pediatric patients with underlying urogenital abnormalities of which 2 compared cranberry to antibiotics. In healthy pediatric patients, cranberry use was associated with a reduction in the overall number of UTIs and a decrease in the number of antibiotic days per year for UTI treatment. In patients with urogenital abnormalities, results were conflicting, with some studies showing no reduction in UTIs compared with placebo, but others demonstrating a significant reduction. However, cranberry products had similar efficacy when compared with both cefaclor and trimethoprim. All studies used a wide variety of doses and frequencies of cranberry, making specific product recommendations difficult. Cranberry appears effective for the prevention of UTIs in otherwise healthy children and is at least as effective as antibiotics in children with underlying urogenital abnormalities. However, recommendations for cranberry dosing and frequency cannot be confidently made at this time. Larger, well-designed trials are recommended. © The Author(s) 2015.
Migrated Essure permanent birth control device: sonographic findings.
Khati, Nadia Juliet; Gorodenker, Joseph; Brindle, Kathleen Ann
2014-05-01
We report a case of a migrated Essure permanent birth control device. The correct diagnosis was made on conventional two-dimensional and three-dimensional pelvic sonography 7 years after placement of the device when the patient presented with persistent right-sided pain. The 3-month post placement hysterosalpingogram had shown an appropriately occluded right fallopian tube but had overlooked the abnormal position of the right Essure device, which was too proximal and extending slightly in the uterine cavity. Copyright © 2013 Wiley Periodicals, Inc.
Hyponatraemia and seizures after ecstasy use
Holmes, S.; Banerjee, A.; Alexander, W.
1999-01-01
A patient presented to our unit with seizures and profound hyponatraemia after ingestion of a single tablet of ecstasy. The seizures proved resistant to therapy and ventilation on the intensive care unit was required. Resolution of the seizures occurred on correction of the metabolic abnormalities. The pathogenesis of seizures and hyponatraemia after ecstasy use is discussed. Ecstasy use should be considered in any young patient presenting with unexplained seizures and attention should be directed towards electrolyte levels, particularly sodium. Keywords: ecstasy; seizures; hyponatraemia PMID:10396584
Malacoplakia associated with vesicoureteral reflux and selective immunoglobulin A deficiency.
Witherington, R; Branan, W J; Wray, B B; Best, G K
1984-11-01
A case of malacoplakia involving the lower urinary tract of a young black boy, with associated bilateral vesicoureteral reflux, hydronephrosis and selective immunoglobulin A deficiency is reported. Reflux was caused by the malacoplakia. Reflux and hydronephrosis persisted despite elimination of bacterial infection and malacoplakia by drug therapy. These abnormalities were corrected by a conventional antireflux operation. Malacoplakia appears to be related to immunologic incompetence and diminished levels of intracellular cyclic 3',5' guanine monophosphate. Cholinergic agonists reverse or prevent the pathological changes of malacoplakia.
QT prolongation in the newborn and maternal alcoholism.
Krasemann, Thomas
2004-10-01
I discuss a newborn whose mother is addicted to alcohol. On the third day of life, the newborn was found to have ventricular tachycardia. After spontaneous termination of the abnormal rhythm, the duration of the corrected QT interval was 0.48 s. During the next days, the duration of the interval normalized, and has now remained stable for 5 years. I conclude that the so-called "alcohol withdrawal syndrome of the newborn" might cause postnatal prolongation of the QT interval.
Facial emotion recognition is inversely correlated with tremor severity in essential tremor.
Auzou, Nicolas; Foubert-Samier, Alexandra; Dupouy, Sandrine; Meissner, Wassilios G
2014-04-01
We here assess limbic and orbitofrontal control in 20 patients with essential tremor (ET) and 18 age-matched healthy controls using the Ekman Facial Emotion Recognition Task and the IOWA Gambling Task. Our results show an inverse relation between facial emotion recognition and tremor severity. ET patients also showed worse performance in joy and fear recognition, as well as subtle abnormalities in risk detection, but these differences did not reach significance after correction for multiple testing.
Correcting the eating disorder in anorexia nervosa.
Wilson, A J; Touyz, S W; O'Connor, M; Beumont, P J
1985-01-01
The aim of the present study was to assess whether direct informational feedback using videotape recordings would improve abnormal eating behaviour in patients with anorexia nervosa. Eight inpatients participated in the study. A statistically significant improvement was noted in the occurrence of obsessional eating behaviour and in table manners. However, there was no change in the speed of eating, disposal of food or behaviours which reduce caloric intake. The implications of these findings for the treatment and prognosis of anorexia nervosa are discussed.
Study of Track Irregularity Time Series Calibration and Variation Pattern at Unit Section
Jia, Chaolong; Wei, Lili; Wang, Hanning; Yang, Jiulin
2014-01-01
Focusing on problems existing in track irregularity time series data quality, this paper first presents abnormal data identification, data offset correction algorithm, local outlier data identification, and noise cancellation algorithms. And then proposes track irregularity time series decomposition and reconstruction through the wavelet decomposition and reconstruction approach. Finally, the patterns and features of track irregularity standard deviation data sequence in unit sections are studied, and the changing trend of track irregularity time series is discovered and described. PMID:25435869
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.
Krishnakumar, Deepa; Maw, Anna; Brown, Richard; Hogg, Sarah; Calvin, Jackie; Parker, Alasdair P J
2014-01-01
Biotinidase deficiency is a treatable cause of infantile epilepsy and the presentation can be nonspecific. The seizures are difficult to differentiate from other causes of epileptic encephalopathy, which generally have a poor prognosis. We report 2 infants who presented with seizures, and whose low cerebrospinal fluid glucose and high cerebrospinal lactate caused a diagnostic dilemma. Subsequent urine organic acids pointed to the correct diagnosis and avoided invasive investigation. The children had a good clinical outcome with resolution of their seizures on biotin treatment.
How to maintain the oral health of a child with Wolff-Parkinson-White syndrome: a case report.
Petroniatis, Tsampikos; Ortu, Eleonora; Marchili, Nicola; Giannoni, Mario; Marzo, Giuseppe; Monaco, Annalisa
2014-09-30
Wolff-Parkinson-White syndrome is one of the most important disorders of the heart conduction system. It is caused by the presence of an abnormal accessory electrical conduction pathway between the atria and the ventricles. In the present report, we describe the correct oral health management of a 12-year-old Caucasian girl with Wolff-Parkinson-White syndrome. We successfully undertook the dental care of a girl with Wolff-Parkinson-White syndrome, which we describe here.
[The blood glucose value not necessarily indicates correctly the cellular metabolic state].
Simon, Kornél; Wittmann, István
2017-03-01
In clinical recommendations the normalized blood glucose level is declared as the main target in therapy of diabetes mellitus, i.e. the achievement of euglycemia is the main therapeutic goal. This approach suggests, that the normal blood glucose value is the marker of the normal carbohydrate metabolism (eumetabolism), and vice versa: hyperglycemia is associated with abnormal metabolism (dysmetabolism). However the question arises, whether identical blood glucose values do reflect the same intracellular biochemical mechanisms? On the basis of data published in the literature authors try to answer these questions by studying the relations between the short/longterm blood glucose level and the cellular metabolism in different clinical settings characterized by divergent pathophysiological parameters. The correlations between blood glucose level and cellular metabolism in development of micro-, and macroangiopathy, in the breakthrough phenomenon, as well as during administration of metabolic promoters, the discrepancies of relation between blood glucose values and cellular metabolism in type 1, and type 2 diabetes mellitus, furthermore association between blood glucose value and myocardial metabolism in acute and chronic stress were analyzed. Authors conclude, that the actual blood glucose values reveal the actual cellular metabolism in a very variable manner: neither euglycemia does mandatorily indicate eumetabolism (balance of cellular energy production), nor hyperglycemia is necessarily a marker of abnormal metabolic state (dept of cellular energy production). Moreover, at the same actual blood glucose level both the metabolic efficacy of the same organ may sharply vary, and the intracellular biochemical machinery could also be very different. In case of the very same longterm blood glucose level the metabolic state of the different organs could be very variable: some organs show an energetically balanced metabolism, while others produce a significant deficit. These inconsistencies between blood glucose level and cellular metabolism can be explained by the fact, that blood glucose value is a transport parameter, reflecting the actual steady state of glucose transport from the carbohydrate pools into the blood, and that from the blood into the tissues. Without knowing the speed of these transports of opposite direction, the blood glucose value per se can not reveal the quantitative and qualitative characteristics of cellular metabolism. Orv. Hetil., 2017, 158(11), 409-417.
Tone-deafness – a new disconnection syndrome?
Loui, Psyche; Alsop, David; Schlaug, Gottfried
2009-01-01
Communicating with one’s environment requires efficient neural interaction between action and perception. Neural substrates ofsound perception and production are connected by the arcuate fasciculus (AF). While AF is known to be involved in language, its roles in non-linguistic functions are unexplored. Here we show that tone-deaf people, with impaired sound perception and production, have reduced AF connectivity. Diffusion tensor tractography and psychophysics were assessed in tone-deaf individuals and matched controls. Abnormally-reduced AF connectivity was observed in the tone-deaf. Furthermore, we observed relationships between AF and auditory-motor behavior: superior and inferior AF branches predict psychophysically-assessed pitch-discrimination and sound production-perception abilities respectively. This neural abnormality suggests that tone-deafness leads to a reduction in connectivity resulting in pitch-related impairments. Results support a dual-stream anatomy of sound production and perception implicated in vocal communications. By identifying white-matter differences and their psychophysical correlates, results contribute to our understanding of how neural connectivity subserves behavior. PMID:19692596
NASA Astrophysics Data System (ADS)
Snowden, Darci; Smith, Michael; Jimson, Theodore; Higgins, Alex
2018-05-01
Cassini's Radio Science Investigation (RSS) and Langmuir Probe observed abnormally high electron densities in Titan's ionosphere during Cassini's T57 flyby. We have developed a three-dimensional model to investigate how the precipitation of thermal magnetospheric O+ may have contributed to enhanced ion production in Titan's ionosphere. The three-dimensional model builds on previous work because it calculates both the flux of oxygen through Titan's exobase and the energy deposition and ion production rates in Titan's atmosphere. We find that energy deposition rates and ion production rates due to thermal O+ precipitation have a similar magnitude to the rates from magnetospheric electron precipitation and that the simulated ionization rates are sufficient to explain the abnormally high electron densities observed by RSS and Cassini's Langmuir Probe. Globally, thermal O+ deposits less energy in Titan's atmosphere than solar EUV, suggesting it has a smaller impact on the thermal structure of Titan's neutral atmosphere. However, our results indicate that thermal O+ precipitation can have a significant impact on Titan's ionosphere.
Lochbuehler, Kirsten; Tang, Kathy Z; Souprountchouk, Valentina; Campetti, Dana; Cappella, Joseph N; Kozlowski, Lynn T; Strasser, Andrew A
2016-07-01
Tobacco companies have deliberately used explicit and implicit misleading information in marketing campaigns. The aim of the current study was to experimentally investigate whether the editing of explicit and implicit content of a print advertisement improves smokers' risk beliefs and smokers' knowledge of explicit and implicit information. Using a 2(explicit/implicit)×2(accurate/misleading) between-subject design, 203 smokers were randomly assigned to one of four advertisement conditions. The manipulation of graphic content was examined as an implicit factor to convey product harm. The inclusion of a text corrective in the body of the ad was defined as the manipulated explicit factor. Participants' eye movements and risk beliefs/recall were measured during and after ad exposure, respectively. Results indicate that exposure to a text corrective decreases false beliefs about the product (p<.01) and improves correct recall of information provided by the corrective (p<.05). Accurate graphic content did not alter the harmfulness of the product. Independent of condition, smokers who focused longer on the warning label made fewer false inferences about the product (p=.01) and were more likely to correctly recall the warning information (p<.01). Nonetheless, most smokers largely ignored the text warning. Embedding a corrective statement in the body of the ad is an effective strategy to convey health information to consumers, which can be mandated under the Tobacco Control Act. Eye-tracking results objectively demonstrate that text-only warnings are not viewed by smokers, thus minimizing their effectiveness for conveying risk information. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
Lochbuehler, Kirsten; Tang, Kathy Z.; Souprountchouk, Valentina; Campetti, Dana; Cappella, Joseph N.; Kozlowski, Lynn T.; Strasser, Andrew A.
2016-01-01
Background Tobacco companies have deliberately used explicit and implicit misleading information in marketing campaigns. The aim of the current study was to experimentally investigate whether the editing of explicit and implicit content of a print advertisement improves smokers’ risk beliefs and smokers’ knowledge of explicit and implicit information. Methods Using a 2(explicit/implicit) x 2(accurate/misleading) between-subject design, 203 smokers were randomly assigned to one of four advertisement conditions. The manipulation of graphic content was examined as an implicit factor to convey product harm. The inclusion of a text corrective in the body of the ad was defined as the manipulated explicit factor. Participants’ eye movements and risk beliefs/recall were measured during and after ad exposure, respectively. Results Results indicate that exposure to a text corrective decreases false beliefs about the product (p < .01) and improves correct recall of information provided by the corrective (p < .05). Accurate graphic content did not alter the harmfulness of the product. Independent of condition, smokers who focused longer on the warning label made fewer false inferences about the product (p = .01) and were more likely to correctly recall the warning information (p < .01). Nonetheless, most smokers largely ignored the text warning. Conclusions Embedding a corrective statement in the body of the ad is an effective strategy to convey health information to consumers, which can be mandated under the Tobacco Control Act (2009). Eye-tracking results objectively demonstrate that text-only warnings are not viewed by smokers, thus minimizing their effectiveness for conveying risk information. PMID:27160034
Love, William J; Lehenbauer, Terry W; Kass, Philip H; Van Eenennaam, Alison L; Aly, Sharif S
2014-01-01
Several clinical scoring systems for diagnosis of bovine respiratory disease (BRD) in calves have been proposed. However, such systems were based on subjective judgment, rather than statistical methods, to weight scores. Data from a pair-matched case-control study on a California calf raising facility was used to develop three novel scoring systems to diagnose BRD in preweaned dairy calves. Disease status was assigned using both clinical signs and diagnostic test results for BRD-associated pathogens. Regression coefficients were used to weight score values. The systems presented use nasal and ocular discharge, rectal temperature, ear and head carriage, coughing, and respiratory quality as predictors. The systems developed in this research utilize fewer severity categories of clinical signs, require less calf handling, and had excellent agreement (Kappa > 0.8) when compared to an earlier scoring system. The first scoring system dichotomized all clinical predictors but required inducing a cough. The second scoring system removed induced cough as a clinical abnormality but required distinguishing between three levels of nasal discharge severity. The third system removed induced cough and forced a dichotomized variable for nasal discharge. The first system presented in this study used the following predictors and assigned values: coughing (induced or spontaneous coughing, 2 points), nasal discharge (any discharge, 3 points), ocular discharge (any discharge, 2 points), ear and head carriage (ear droop or head tilt, 5 points), fever (≥39.2°C or 102.5°F, 2 points), and respiratory quality (abnormal respiration, 2 points). Calves were categorized "BRD positive" if their total score was ≥4. This system correctly classified 95.4% cases and 88.6% controls. The second presented system categorized the predictors and assigned weights as follows: coughing (spontaneous only, 2 points), mild nasal discharge (unilateral, serous, or watery discharge, 3 points), moderate to severe nasal discharge (bilateral, cloudy, mucoid, mucopurlent, or copious discharge, 5 points), ocular discharge (any discharge, 1 point), ear and head carriage (ear droop or head tilt, 5 points), fever (≥39.2°C, 2 points), and respiratory quality (abnormal respiration, 2 points). Calves were categorized "BRD positive" if their total score was ≥4. This system correctly classified 89.3% cases and 92.8% controls. The third presented system used the following predictors and scores: coughing (spontaneous only, 2 points), nasal discharge (any, 4 points), ocular discharge (any, 2 points), ear and head carriage (ear droop or head tilt, 5 points), fever (≥39.2°C, 2 points), and respiratory quality (abnormal respiration, 2 points). Calves were categorized "BRD positive" if their total score was ≥5. This system correctly classified 89.4% cases and 90.8% controls. Each of the proposed systems offer few levels of clinical signs and data-based weights for on-farm diagnosis of BRD in dairy calves.
Love, William J.; Lehenbauer, Terry W.; Kass, Philip H.; Van Eenennaam, Alison L.
2014-01-01
Several clinical scoring systems for diagnosis of bovine respiratory disease (BRD) in calves have been proposed. However, such systems were based on subjective judgment, rather than statistical methods, to weight scores. Data from a pair-matched case-control study on a California calf raising facility was used to develop three novel scoring systems to diagnose BRD in preweaned dairy calves. Disease status was assigned using both clinical signs and diagnostic test results for BRD-associated pathogens. Regression coefficients were used to weight score values. The systems presented use nasal and ocular discharge, rectal temperature, ear and head carriage, coughing, and respiratory quality as predictors. The systems developed in this research utilize fewer severity categories of clinical signs, require less calf handling, and had excellent agreement (Kappa > 0.8) when compared to an earlier scoring system. The first scoring system dichotomized all clinical predictors but required inducing a cough. The second scoring system removed induced cough as a clinical abnormality but required distinguishing between three levels of nasal discharge severity. The third system removed induced cough and forced a dichotomized variable for nasal discharge. The first system presented in this study used the following predictors and assigned values: coughing (induced or spontaneous coughing, 2 points), nasal discharge (any discharge, 3 points), ocular discharge (any discharge, 2 points), ear and head carriage (ear droop or head tilt, 5 points), fever (≥39.2°C or 102.5°F, 2 points), and respiratory quality (abnormal respiration, 2 points). Calves were categorized “BRD positive” if their total score was ≥4. This system correctly classified 95.4% cases and 88.6% controls. The second presented system categorized the predictors and assigned weights as follows: coughing (spontaneous only, 2 points), mild nasal discharge (unilateral, serous, or watery discharge, 3 points), moderate to severe nasal discharge (bilateral, cloudy, mucoid, mucopurlent, or copious discharge, 5 points), ocular discharge (any discharge, 1 point), ear and head carriage (ear droop or head tilt, 5 points), fever (≥39.2°C, 2 points), and respiratory quality (abnormal respiration, 2 points). Calves were categorized “BRD positive” if their total score was ≥4. This system correctly classified 89.3% cases and 92.8% controls. The third presented system used the following predictors and scores: coughing (spontaneous only, 2 points), nasal discharge (any, 4 points), ocular discharge (any, 2 points), ear and head carriage (ear droop or head tilt, 5 points), fever (≥39.2°C, 2 points), and respiratory quality (abnormal respiration, 2 points). Calves were categorized “BRD positive” if their total score was ≥5. This system correctly classified 89.4% cases and 90.8% controls. Each of the proposed systems offer few levels of clinical signs and data-based weights for on-farm diagnosis of BRD in dairy calves. PMID:24482759
Nonyelum, Stanley Catherine; Nkem, Nwachukwu; Ifeyinwa, Chijoke-Nwauche; Orisakwe, Orish Ebere
2010-10-01
To investigate the adequacy of safety warnings and first aid instructions on the labels of pharmaceutical and consumer products in Nigeria. A market basket method (total collection of all available samples) was used to investigate the adequacy of safety warnings and first aid instructions on the labels of 600 pharmaceutical and consumer products in Nigeria. The results showed that 69.8% of the products had adequate warnings whereas 385 (64.1%) of the products screened had legible product warnings. Only 52 (8.7%) of the total number of products had appropriate first aid instructions while only 25 (4.12%) of the products described symptoms and full treatment of poisoning by the product and 319 (53.2%) products surveyed recommended calling a health professional. A total of 31 (5.2%) products had labels that were considered too technical (non English). Of the 600 products, 386 (64.3%) had dosage instructions that were considered adequate while 538 (89.6%) had adequate storage instructions. About 68% of the products had partially correct warnings while 44 or 7.3% had partially correct first aid instructions. Some products had neither warnings nor first aid instructions. This study suggests a not too impressive improvement in the correctness and appropriateness of label information.
27 CFR 478.48 - Correction of error on license.
Code of Federal Regulations, 2012 CFR
2012-04-01
... 27 Alcohol, Tobacco Products and Firearms 3 2012-04-01 2010-04-01 true Correction of error on license. 478.48 Section 478.48 Alcohol, Tobacco Products, and Firearms BUREAU OF ALCOHOL, TOBACCO, FIREARMS, AND EXPLOSIVES, DEPARTMENT OF JUSTICE FIREARMS AND AMMUNITION COMMERCE IN FIREARMS AND AMMUNITION...
27 CFR 478.48 - Correction of error on license.
Code of Federal Regulations, 2011 CFR
2011-04-01
... 27 Alcohol, Tobacco Products and Firearms 3 2011-04-01 2010-04-01 true Correction of error on license. 478.48 Section 478.48 Alcohol, Tobacco Products, and Firearms BUREAU OF ALCOHOL, TOBACCO, FIREARMS, AND EXPLOSIVES, DEPARTMENT OF JUSTICE FIREARMS AND AMMUNITION COMMERCE IN FIREARMS AND AMMUNITION...
27 CFR 478.48 - Correction of error on license.
Code of Federal Regulations, 2013 CFR
2013-04-01
... 27 Alcohol, Tobacco Products and Firearms 3 2013-04-01 2013-04-01 false Correction of error on license. 478.48 Section 478.48 Alcohol, Tobacco Products, and Firearms BUREAU OF ALCOHOL, TOBACCO, FIREARMS, AND EXPLOSIVES, DEPARTMENT OF JUSTICE FIREARMS AND AMMUNITION COMMERCE IN FIREARMS AND AMMUNITION...
27 CFR 478.48 - Correction of error on license.
Code of Federal Regulations, 2010 CFR
2010-04-01
... 27 Alcohol, Tobacco Products and Firearms 3 2010-04-01 2010-04-01 false Correction of error on license. 478.48 Section 478.48 Alcohol, Tobacco Products, and Firearms BUREAU OF ALCOHOL, TOBACCO, FIREARMS, AND EXPLOSIVES, DEPARTMENT OF JUSTICE FIREARMS AND AMMUNITION COMMERCE IN FIREARMS AND AMMUNITION...
27 CFR 478.48 - Correction of error on license.
Code of Federal Regulations, 2014 CFR
2014-04-01
... 27 Alcohol, Tobacco Products and Firearms 3 2014-04-01 2014-04-01 false Correction of error on license. 478.48 Section 478.48 Alcohol, Tobacco Products, and Firearms BUREAU OF ALCOHOL, TOBACCO, FIREARMS, AND EXPLOSIVES, DEPARTMENT OF JUSTICE FIREARMS AND AMMUNITION COMMERCE IN FIREARMS AND AMMUNITION...
76 FR 16531 - Country of Origin of Textile and Apparel Products; Correction
Federal Register 2010, 2011, 2012, 2013, 2014
2011-03-24
... RIN 1505-AB60) Country of Origin of Textile and Apparel Products; Correction AGENCIES: U.S. Customs and Border Protection, Department of Homeland Security; Department of the Treasury. ACTION: Final rule..., a document which adopted as a final rule, with some changes, interim amendments to the CBP...
Federal Register 2010, 2011, 2012, 2013, 2014
2011-08-02
... DEPARTMENT OF ENERGY 10 CFR Parts 429 and 430 [Docket No. EERE-2010-BT-CE-0014] RIN 1904-AC23 Energy Conservation Program: Certification, Compliance, and Enforcement for Consumer Products and Commercial and Industrial Equipment; Correction Correction In rule document 2011-10401 appearing on pages...
77 FR 3606 - Product Valuation
Federal Register 2010, 2011, 2012, 2013, 2014
2012-01-25
... DEPARTMENT OF THE INTERIOR Office of Natural Resources Revenue 30 CFR Part 1206 Product Valuation CFR Correction 0 In Title 30 of the Code of Federal Regulations, Part 700 to End, revised as of July 1, 2011, ``ONNR'' is corrected to read ``ONRR'', as set forth in the following table: [[Page 3607
NASA Astrophysics Data System (ADS)
Bhattacharyya, Kaustuve; Ke, Chih-Ming; Huang, Guo-Tsai; Chen, Kai-Hsiung; Smilde, Henk-Jan H.; Fuchs, Andreas; Jak, Martin; van Schijndel, Mark; Bozkurt, Murat; van der Schaar, Maurits; Meyer, Steffen; Un, Miranda; Morgan, Stephen; Wu, Jon; Tsai, Vincent; Liang, Frida; den Boef, Arie; ten Berge, Peter; Kubis, Michael; Wang, Cathy; Fouquet, Christophe; Terng, L. G.; Hwang, David; Cheng, Kevin; Gau, TS; Ku, Y. C.
2013-04-01
Aggressive on-product overlay requirements in advanced nodes are setting a superior challenge for the semiconductor industry. This forces the industry to look beyond the traditional way-of-working and invest in several new technologies. Integrated metrology2, in-chip overlay control, advanced sampling and process correction-mechanism (using the highest order of correction possible with scanner interface today), are a few of such technologies considered in this publication.
NASA Astrophysics Data System (ADS)
Ju, W.; Liu, Y.; Zhou, Y.; Zhu, G.
2011-12-01
Terrestrial carbon cycle is an important determinant of global climate change and affected by various factors, including climate, CO2 concentration, atmospheric nitrogen deposition and human activities. Extreme weather events can significantly regulate short-term even long-term carbon exchanges between terrestrial ecosystems and the atmosphere. During the period from the middle January to the middle February 2008, Southern China was seriously hit by abnormal low-temperature freezing, which caused serous damages to forests and crops. However, the reduction of net primary productivity (NPP) of terrestrial ecosystems caused by this extremely abnormal weather event has not been quantitatively investigated. In this study, the Boreal Ecosystem Productivity Simulator (BEPS) model was employed to assess the reduction of NPP in Southern China caused by the abnormal low-temperature freezing. Prior to the regional simulation, the BEPS model was validated using measured NPP in different ecosystems, demonstrating the ability of this model to simulate NPP reliably in China. Then, it was forced using meteorological data interpolated from observations of weather stations and leaf area index inversed from MODIS reflectance data to simulate national wide NPP at a 500 m resolution for the period from 2003 to 2008. The departures of NPP in 2008 from the means during 2003-2007 were used as the indicator of NPP reduction caused by the low-temperature freezing. It was found out that NPP in 2008 decreased significantly in forests of Southern China, especially in Guangdong, Fujian, Zhejiang, Guangxi, Jiangxi, and Hunan Provinces, in which the low-temperature freeing was more serious. The annul reduction of NPP was above 150 g C/m^2/yr in these areas. Key words: Net Primary Productivity, low-temperature freezing, BEPS model, MODIS Correspondence author: Weimin Ju Email:juweimin@nju.edu.cn
Federal Register 2010, 2011, 2012, 2013, 2014
2012-02-29
..., corrective advertising is designed to dissipate or correct erroneous beliefs resulting from a false claim... how variations in corrective advertising may impact consumers' misleading product beliefs. III. Design... those who see only the original ad, only the corrective ad, and neither ad. Table 1--Design of Phase 1...
Impacts of Satellite Orbit and Clock on Real-Time GPS Point and Relative Positioning.
Shi, Junbo; Wang, Gaojing; Han, Xianquan; Guo, Jiming
2017-06-12
Satellite orbit and clock corrections are always treated as known quantities in GPS positioning models. Therefore, any error in the satellite orbit and clock products will probably cause significant consequences for GPS positioning, especially for real-time applications. Currently three types of satellite products have been made available for real-time positioning, including the broadcast ephemeris, the International GNSS Service (IGS) predicted ultra-rapid product, and the real-time product. In this study, these three predicted/real-time satellite orbit and clock products are first evaluated with respect to the post-mission IGS final product, which demonstrates cm to m level orbit accuracies and sub-ns to ns level clock accuracies. Impacts of real-time satellite orbit and clock products on GPS point and relative positioning are then investigated using the P3 and GAMIT software packages, respectively. Numerical results show that the real-time satellite clock corrections affect the point positioning more significantly than the orbit corrections. On the contrary, only the real-time orbit corrections impact the relative positioning. Compared with the positioning solution using the IGS final product with the nominal orbit accuracy of ~2.5 cm, the real-time broadcast ephemeris with ~2 m orbit accuracy provided <2 cm relative positioning error for baselines no longer than 216 km. As for the baselines ranging from 574 to 2982 km, the cm-dm level positioning error was identified for the relative positioning solution using the broadcast ephemeris. The real-time product could result in <5 mm relative positioning accuracy for baselines within 2982 km, slightly better than the predicted ultra-rapid product.
Electroweak corrections to hadronic production of W bosons at large transverse momenta
NASA Astrophysics Data System (ADS)
Kühn, Johann H.; Kulesza, A.; Pozzorini, S.; Schulze, M.
2008-07-01
To match the precision of present and future measurements of W-boson production at hadron colliders electroweak radiative corrections must be included in the theory predictions. In this paper we consider their effect on the transverse momentum ( p) distribution of W bosons, with emphasis on large p. We evaluate the full electroweak O(α) corrections to the processes pp→W+jet and pp¯→W+jet including virtual and real photonic contributions. We present the explicit expressions in analytical form for the virtual corrections and provide results for the real corrections, discussing in detail the treatment of soft and collinear singularities. We also provide compact approximate expressions which are valid in the high-energy region, where the electroweak corrections are strongly enhanced by logarithms of sˆ/MW2. These expressions describe the complete asymptotic behaviour at one loop as well as the leading and next-to-leading logarithms at two loops. Numerical results are presented for proton-proton collisions at 14 TeV and proton-antiproton collisions at 2 TeV. The corrections are negative and their size increases with p. At the LHC, where transverse momenta of 2 TeV or more can be reached, the one- and two-loop corrections amount up to -40% and +10%, respectively, and will be important for a precise analysis of W production. At the Tevatron, transverse momenta up to 300 GeV are within reach. In this case the electroweak corrections amount up to -10% and are thus larger than the expected statistical error.
Lee, J; Spinazzola, R M; Kohn, N; Perrin, M; Milanaik, R L
2016-07-01
To assess the association between gestational age versus corrected age at the time of hip ultrasound with findings for developmental dysplasia of the hip (DDH) in preterm breech infants. A retrospective medical chart review was conducted to examine hip ultrasounds of 318 premature breech infants for findings associated with DDH. Positive findings for DDH occurred in 3/135 (2%) of infants <32 weeks gestational age and 17/183 (9%) of infants 32 to <37 weeks gestational age (odds ratio: 0.22, 95% CI: 0.04 to 0.79, P<0.015). No infants born <32 weeks gestational age had abnormal findings for DDH upon follow-up ultrasound. Infants <40 weeks corrected age at the time of hip ultrasound were more likely to have DDH findings compared with infants ⩾44 weeks corrected age (odds ratio: 7.83, 95% CI: 2.20 to 29.65, P<0.001). Current hip ultrasonography policies that include screening of premature breech infants may need to be revised.
Mazziotti, G; Formenti, A M; Frara, S; Maffezzoni, F; Doga, M; Giustina, A
2017-05-01
This review focuses on the pathophysiological and clinical aspects of diabetes mellitus occurring in patients with Cushing disease (CD). Insulin resistance and impairment in insulin secretion are both involved in the pathogenesis of glucocorticoid-induced diabetes. Correction of glucocorticoid excess does not always resolve abnormalities of glucose homeostasis, and correction of hyperglycaemia is specifically required. In fact, insulin resistance may persist even after correction of glucocorticoid excess and diabetes needs to be treated for long term. On the other hand, emerging drugs used in the treatment of CD, such as the novel somatostatin analog pasireotide, may have direct effects on glucose homeostasis regardless of control of cortisol excess. Diabetes mellitus is a frequent and early complication of CD with important diagnostic, prognostic and therapeutic implications. Specifically, diagnosis of CD in patients with diabetes may be difficult due to potential misinterpretation of markers of cortisol hypersecretion. Moreover, diabetes mellitus is often difficult to be controlled in CD requiring a careful and dedicated therapeutic approach. Finally, the coexistence of diabetes may influence the therapeutic decision making in CD, since drugs used in this setting may variably influence glucose homeostasis regardless of control of hypercortisolism.
NASA Technical Reports Server (NTRS)
Pagnutti, Mary; Holekamp, Kara; Ryan, Robert E.; Vaughan, Ronand; Russell, Jeff; Prados, Don; Stanley, Thomas
2005-01-01
Remotely sensed ground reflectance is the foundation of any interoperability or change detection technique. Satellite intercomparisons and accurate vegetation indices, such as the Normalized Difference Vegetation Index (NDVI), require the generation of accurate reflectance maps (NDVI is used to describe or infer a wide variety of biophysical parameters and is defined in terms of near-infrared (NIR) and red band reflectances). Accurate reflectance-map generation from satellite imagery relies on the removal of solar and satellite geometry and of atmospheric effects and is generally referred to as atmospheric correction. Atmospheric correction of remotely sensed imagery to ground reflectance has been widely applied to a few systems only. The ability to obtain atmospherically corrected imagery and products from various satellites is essential to enable widescale use of remotely sensed, multitemporal imagery for a variety of applications. An atmospheric correction approach derived from the Moderate Resolution Imaging Spectroradiometer (MODIS) that can be applied to high-spatial-resolution satellite imagery under many conditions was evaluated to demonstrate a reliable, effective reflectance map generation method. Additional information is included in the original extended abstract.
NASA Technical Reports Server (NTRS)
Pagnutti, Mary; Holekamp, Kara; Ryan, Robert E.; Vaughan, Ronald; Russell, Jeffrey A.; Prados, Don; Stanley, Thomas
2005-01-01
Remotely sensed ground reflectance is the basis for many inter-sensor interoperability or change detection techniques. Satellite inter-comparisons and accurate vegetation indices such as the Normalized Difference Vegetation Index, which is used to describe or to imply a wide variety of biophysical parameters and is defined in terms of near-infrared and redband reflectance, require the generation of accurate reflectance maps. This generation relies upon the removal of solar illumination, satellite geometry, and atmospheric effects and is generally referred to as atmospheric correction. Atmospheric correction of remotely sensed imagery to ground reflectance, however, has been widely applied to only a few systems. In this study, we atmospherically corrected commercially available, high spatial resolution IKONOS and QuickBird imagery using several methods to determine the accuracy of the resulting reflectance maps. We used extensive ground measurement datasets for nine IKONOS and QuickBird scenes acquired over a two-year period to establish reflectance map accuracies. A correction approach using atmospheric products derived from Moderate Resolution Imaging Spectrometer data created excellent reflectance maps and demonstrated a reliable, effective method for reflectance map generation.
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.
Nitschke, Felix; Sullivan, Mitchell A; Wang, Peixiang; Zhao, Xiaochu; Chown, Erin E; Perri, Ami M; Israelian, Lori; Juana-López, Lucia; Bovolenta, Paola; Rodríguez de Córdoba, Santiago; Steup, Martin; Minassian, Berge A
2017-07-01
Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss-of-function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated and poorly hydrosoluble. It precipitates and accumulates into neurotoxic Lafora bodies (LBs). The leading LD hypothesis that hyperphosphorylation causes the insolubility was recently challenged by the observation that phosphatase-inactive laforin rescues the laforin-deficient LD mouse model, apparently through correction of a general autophagy impairment. We were for the first time able to quantify brain glycogen phosphate. We also measured glycogen content and chain lengths, LBs, and autophagy markers in several laforin- or malin-deficient mouse lines expressing phosphatase-inactive laforin. We find that: (i) in laforin-deficient mice, phosphatase-inactive laforin corrects glycogen chain lengths, and not hyperphosphorylation, which leads to correction of glycogen amounts and prevention of LBs; (ii) in malin-deficient mice, phosphatase-inactive laforin confers no correction; (iii) general impairment of autophagy is not necessary in LD We conclude that laforin's principle function is to control glycogen chain lengths, in a malin-dependent fashion, and that loss of this control underlies LD. © 2017 The Authors. Published under the terms of the CC BY 4.0 license.
He, Qionger; Arroyo, Erica D; Smukowski, Samuel N; Xu, Jian; Piochon, Claire; Savas, Jeffrey N; Portera-Cailliau, Carlos; Contractor, Anis
2018-04-27
Sensory perturbations in visual, auditory and tactile perception are core problems in fragile X syndrome (FXS). In the Fmr1 knockout mouse model of FXS, the maturation of synapses and circuits during critical period (CP) development in the somatosensory cortex is delayed, but it is unclear how this contributes to altered tactile sensory processing in the mature CNS. Here we demonstrate that inhibiting the juvenile chloride co-transporter NKCC1, which contributes to altered chloride homeostasis in developing cortical neurons of FXS mice, rectifies the chloride imbalance in layer IV somatosensory cortex neurons and corrects the development of thalamocortical excitatory synapses during the CP. Comparison of protein abundances demonstrated that NKCC1 inhibition during early development caused a broad remodeling of the proteome in the barrel cortex. In addition, the abnormally large size of whisker-evoked cortical maps in adult Fmr1 knockout mice was corrected by rectifying the chloride imbalance during the early CP. These data demonstrate that correcting the disrupted driving force through GABA A receptors during the CP in cortical neurons restores their synaptic development, has an unexpectedly large effect on differentially expressed proteins, and produces a long-lasting correction of somatosensory circuit function in FXS mice.
Neurological abnormalities in recent-onset schizophrenia and asperger-syndrome.
Hirjak, Dusan; Wolf, Robert Christian; Koch, Sabine C; Mehl, Laura; Kelbel, Janna K; Kubera, Katharina Maria; Traeger, Tanja; Fuchs, Thomas; Thomann, Philipp Arthur
2014-01-01
Neurological abnormalities including a variety of subtle deficits such as discrete impairments in sensory integration, motor coordination (MOCO), and sequencing of complex motor acts are frequently found in patients with schizophrenia (SZ) and commonly referred to as neurological soft signs (NSS). Asperger-syndrome (AS) is characterized by sensory-motor difficulties as well. However, the question whether the two disorders share a common or a disease-specific pattern of NSS remains unresolved. A total of 78 age- and education-matched participants [26 patients with recent-onset SZ, 26 individuals with AS, and 26 healthy controls (HC)] were recruited for the study. Analyses of covariance (ANCOVAs), with age, years of education, and medication included as covariates, were used to examine group differences on total NSS and the five subscale scores. Discriminant analyses were employed to identify the NSS subscales that maximally discriminate between the three groups. Significant differences among the three groups were found in NSS total score and on the five NSS subscales. The clinical groups differed significantly in the NSS subscale MOCO. The correct discriminant rate between patients with SZ and individuals with AS was 61.5%. The correct discriminant rate was 92.3% between individuals with AS and HC, and 80.8% between SZ patients and HC, respectively. Our findings provide new evidence for the presence of NSS in AS and lend further support to previously reported difficulties in movement control in this disorder. According to the present results, SZ and AS seem to be characterized by both quantitative and qualitative NSS expression.
Laurencikas, E; Sävendahl, L; Jorulf, H
2006-06-01
To assess the value of the metacarpophalangeal pattern profile (MCPP) analysis as a diagnostic tool for differentiating between patients with dyschondrosteosis, Turner syndrome, and hypochondroplasia. Radiographic and clinical data from 135 patients between 1 and 51 years of age were collected and analyzed. The study included 25 patients with hypochondroplasia (HCP), 39 with dyschondrosteosis (LWD), and 71 with Turner syndrome (TS). Hand pattern profiles were calculated and compared with those of 110 normal individuals. Pearson correlation coefficient (r) and multivariate discriminant analysis were used for pattern profile analysis. Pattern variability index, a measure of dysmorphogenesis, was calculated for LWD, TS, HCP, and normal controls. Our results demonstrate that patients with LWD, TS, or HCP have distinct pattern profiles that are significantly different from each other and from those of normal controls. Discriminant analysis yielded correct classification of normal versus abnormal individuals in 84% of cases. Classification of the patients into LWD, TS, and HCP groups was successful in 75%. The correct classification rate was higher (85%) when differentiating two pathological groups at a time. Pattern variability index was not helpful for differential diagnosis of LWD, TS, and HCP. Patients with LWD, TS, or HCP have distinct MCPPs and can be successfully differentiated from each other using advanced MCPP analysis. Discriminant analysis is to be preferred over Pearson correlation coefficient because it is a more sensitive and specific technique. MCPP analysis is a helpful tool for differentiating between syndromes with similar clinical and radiological abnormalities.
Dundie, A; Hayes, G; Scrivani, P; Campoy, L; Fletcher, D; Ash, K; Oxford, E; Moïse, N S
2017-04-01
A 10 week old female intact Staffordshire terrier was presented with a total of five congenital cardio-thoracic vascular anomalies consisting of a patent ductus arteriosus (PDA) with an aneurysmic dilation, pulmonic stenosis, persistent right aortic arch, aberrant left subclavian artery and persistent left cranial vena cava. These abnormalities were identified with a combination of echocardiogram and computed tomography angiography (CTA). The abnormalities were associated with esophageal entrapment, regurgitation, and volume overload of the left heart with left atrial and ventricular enlargement. A 2 cm diameter aneurysmic dilation at the junction of the PDA, right aortic arch and aberrant left subclavian artery presented an unusual surgical challenge and precluded simple circumferential ligation and transection of the structure. A full scale three dimensional model of the heart and vasculature was constructed from the CTA and plasma sterilized. The model was used preoperatively to facilitate surgical planning and enhance intraoperative communication and coordination between the surgical and anesthesia teams. Intraoperatively the model facilitated spatial orientation, atraumatic vascular dissection, instrument sizing and positioning. A thoracoabdominal stapler was used to close the PDA aneurysm prior to transection. At the four-month postoperative follow-up the patient was doing well. This is the first reported application of new imaging and modeling technology to enhance surgical planning when approaching correction of complex cardiovascular anomalies in a dog. Copyright © 2016 Elsevier B.V. All rights reserved.
Association between brain structure and phenotypic characteristics in pedophilia.
Poeppl, Timm B; Nitschke, Joachim; Santtila, Pekka; Schecklmann, Martin; Langguth, Berthold; Greenlee, Mark W; Osterheider, Michael; Mokros, Andreas
2013-05-01
Studies applying structural neuroimaging to pedophiles are scarce and have shown conflicting results. Although first findings suggested reduced volume of the amygdala, pronounced gray matter decreases in frontal regions were observed in another group of pedophilic offenders. When compared to non-sexual offenders instead of community controls, pedophiles revealed deficiencies in white matter only. The present study sought to test the hypotheses of structurally compromised prefrontal and limbic networks and whether structural brain abnormalities are related to phenotypic characteristics in pedophiles. We compared gray matter volume of male pedophilic offenders and non-sexual offenders from high-security forensic hospitals using voxel-based morphometry in cross-sectional and correlational whole-brain analyses. The significance threshold was set to p < .05, corrected for multiple comparisons. Compared to controls, pedophiles exhibited a volume reduction of the right amygdala (small volume corrected). Within the pedophilic group, pedosexual interest and sexual recidivism were correlated with gray matter decrease in the left dorsolateral prefrontal cortex (r = -.64) and insular cortex (r = -.45). Lower age of victims was strongly associated with gray matter reductions in the orbitofrontal cortex (r = .98) and angular gyri bilaterally (r = .70 and r = .93). Our findings of specifically impaired neural networks being related to certain phenotypic characteristics might account for the heterogeneous results in previous neuroimaging studies of pedophilia. The neuroanatomical abnormalities in pedophilia seem to be of a dimensional rather than a categorical nature, supporting the notion of a multifaceted disorder. Copyright © 2013 Elsevier Ltd. All rights reserved.
Rowe, Fiona J.; Noonan, Carmel; Manuel, Melanie
2013-01-01
Aim. To compare semikinetic perimetry (SKP) on Octopus 900 perimetry to a peripheral static programme with Humphrey automated perimetry. Methods. Prospective cross-section study comparing Humphrey full field (FF) 120 two zone programme to a screening protocol for SKP on Octopus perimetry. Results were independently graded for presence/absence of field defect plus type and location of defect. Results. 64 patients (113 eyes) underwent dual perimetry assessment. Mean duration of assessment for SKP was 4.54 minutes ±0.18 and 6.17 ± 0.12 for FF120 (P = 0.0001). 80% of results were correctly matched for normal or abnormal visual fields using the I4e target versus FF120, and 73.5% were correctly matched using the I2e target versus FF120. When comparing Octopus results with combined I4e and I2e isopters to the FF120 result, a match for normal or abnormal fields was recorded in 87%. Conclusions. Humphrey perimetry test duration was generally longer than Octopus SKP. In the absence of kinetic perimetry, peripheral static suprathreshold programme options such as FF120 may be useful for detection of visual field defects. However, statokinetic dissociation may occur. Octopus SKP utilising both I4e and I2e targets provides detailed information of both the defect depth and size and may provide a more representative view of the actual visual field defect. PMID:24558605
Federal Register 2010, 2011, 2012, 2013, 2014
2010-09-01
... DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration [Docket No. FDA-2010-N-0394] Clinical Studies of Safety and Effectiveness of Orphan Products Research Project Grant (R01); Correction AGENCY: Food and Drug Administration, HHS. ACTION: Notice; correction. SUMMARY: The Food and Drug...
Federal Register 2010, 2011, 2012, 2013, 2014
2010-10-07
... INTERNATIONAL TRADE COMMISSION [Investigation No. 337-TA-678] In the Matter of Certain Energy Drink Products; Notice of Issuance of a Corrected General Exclusion Order AGENCY: U.S. International Trade Commission. ACTION: Notice. SUMMARY: Notice is hereby given that the U.S. International Trade...
76 FR 71450 - Deduction for Qualified Film and Television Production Costs; Correction
Federal Register 2010, 2011, 2012, 2013, 2014
2011-11-18
... DEPARTMENT OF THE TREASURY Internal Revenue Service 26 CFR Part 1 [TD 9552] RIN 1545-BJ24 Deduction for Qualified Film and Television Production Costs; Correction AGENCY: Internal Revenue Service... Register on Wednesday, October 19, 2011 (76 FR 64816) relating to deductions for the cost of producing film...
Federal Register 2010, 2011, 2012, 2013, 2014
2011-10-06
... for Residential Furnaces and Boilers (Standby Mode and Off Mode); Correction AGENCY: Office of Energy... Consumer Products: Test Procedures for Residential Furnaces and Boilers. This correction provides the... page 56339, in the third column after ``2. E- mail:'' the e-mail address should read `` FurnaceBoiler...
Federal Register 2010, 2011, 2012, 2013, 2014
2013-12-27
... DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration 21 CFR Parts 314 and 601... Approved Drugs and Biological Products; Correction and Extension of Comment Period AGENCY: Food and Drug Administration, HHS. ACTION: Proposed rule; correction and extension of comment period. SUMMARY: The Food and...
78 FR 38829 - Product Valuation
Federal Register 2010, 2011, 2012, 2013, 2014
2013-06-28
... DEPARTMENT OF THE INTERIOR Office of Natural Resources Revenue 30 CFR Part 1206 Product Valuation CFR Correction In Title 30 of the Code of Federal Regulations, Part 700 to End, revised as of July 1, 2012, on page 742, in Sec. 1206.57, in paragraph (c)(3), the first sentence is corrected to read as...
78 FR 19100 - Product Valuation
Federal Register 2010, 2011, 2012, 2013, 2014
2013-03-29
... DEPARTMENT OF THE INTERIOR Surface Mining Reclamation and Enforcement 30 CFR Part 1206 Product Valuation CFR Correction In Title 30 of the Code of Federal Regulations, Parts 700 to End, revised as of July 1, 2012, on page 742, in Sec. 1206.57(d)(3) the reference to ``Sec. 1218.54'' is corrected to read...
NASA Technical Reports Server (NTRS)
Meister, Gerhard; Franz, Bryan A.
2011-01-01
The Moderate-Resolution Imaging Spectroradiometer (MODIS) on NASA s Earth Observing System (EOS) satellite Terra provides global coverage of top-of-atmosphere (TOA) radiances that have been successfully used for terrestrial and atmospheric research. The MODIS Terra ocean color products, however, have been compromised by an inadequate radiometric calibration at the short wavelengths. The Ocean Biology Processing Group (OBPG) at NASA has derived radiometric corrections using ocean color products from the SeaWiFS sensor as truth fields. In the R2010.0 reprocessing, these corrections have been applied to the whole mission life span of 10 years. This paper presents the corrections to the radiometric gains and to the instrument polarization sensitivity, demonstrates the improvement to the Terra ocean color products, and discusses issues that need further investigation. Although the global averages of MODIS Terra ocean color products are now in excellent agreement with those of SeaWiFS and MODIS Aqua, and image quality has been significantly improved, the large corrections applied to the radiometric calibration and polarization sensitivity require additional caution when using the data.
21 CFR 820.100 - Corrective and preventive action.
Code of Federal Regulations, 2013 CFR
2013-04-01
..., work operations, concessions, quality audit reports, quality records, service records, complaints, returned product, and other sources of quality data to identify existing and potential causes of... (CONTINUED) MEDICAL DEVICES QUALITY SYSTEM REGULATION Corrective and Preventive Action § 820.100 Corrective...
21 CFR 820.100 - Corrective and preventive action.
Code of Federal Regulations, 2011 CFR
2011-04-01
..., work operations, concessions, quality audit reports, quality records, service records, complaints, returned product, and other sources of quality data to identify existing and potential causes of... (CONTINUED) MEDICAL DEVICES QUALITY SYSTEM REGULATION Corrective and Preventive Action § 820.100 Corrective...
21 CFR 820.100 - Corrective and preventive action.
Code of Federal Regulations, 2010 CFR
2010-04-01
..., work operations, concessions, quality audit reports, quality records, service records, complaints, returned product, and other sources of quality data to identify existing and potential causes of... (CONTINUED) MEDICAL DEVICES QUALITY SYSTEM REGULATION Corrective and Preventive Action § 820.100 Corrective...
21 CFR 820.100 - Corrective and preventive action.
Code of Federal Regulations, 2012 CFR
2012-04-01
..., work operations, concessions, quality audit reports, quality records, service records, complaints, returned product, and other sources of quality data to identify existing and potential causes of... (CONTINUED) MEDICAL DEVICES QUALITY SYSTEM REGULATION Corrective and Preventive Action § 820.100 Corrective...
21 CFR 820.100 - Corrective and preventive action.
Code of Federal Regulations, 2014 CFR
2014-04-01
..., work operations, concessions, quality audit reports, quality records, service records, complaints, returned product, and other sources of quality data to identify existing and potential causes of... (CONTINUED) MEDICAL DEVICES QUALITY SYSTEM REGULATION Corrective and Preventive Action § 820.100 Corrective...
Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.
Marszałek-Kruk, Bożena Anna; Wójcicki, Piotr; Smigiel, Robert; Trzeciak, Wiesław H
2012-08-01
Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in the general population at a frequency of 1 in 50,000 live births. The syndrome is caused by mutations in the TCOF1 gene, which encodes the serine/alanine-rich protein named Treacle. Over 120 mutations of the TCOF1 gene responsible for TCS have been described. About 70% of recognized mutations are deletions, which lead to a frame shift, formation of a termination codon, and shortening of the protein product of the gene. Herewith, a new heterozygotic insertion, c.484_668ins185bp, was described in two monozygotic twin sisters suffering from TCS. This mutation was absent in their father, brother, and uncle, indicating a de novo origin. The insertion causes a shift in the reading frame and premature termination of translation at 167 aa. The novel insertion is the longest ever found in the TCOF1 gene and the only one found among monozygotic twin sisters.
Kim, Edward; Wang, Yuan; Kim, Sun-Jung; Bornhorst, Miriam; Jecrois, Emmanuelle S; Anthony, Todd E; Wang, Chenran; Li, Yi E; Guan, Jun-Lin; Murphy, Geoffrey G; Zhu, Yuan
2014-01-01
Individuals with neurofibromatosis type 1 (NF1) frequently exhibit cognitive and motor impairments and characteristics of autism. The cerebellum plays a critical role in motor control, cognition, and social interaction, suggesting that cerebellar defects likely contribute to NF1-associated neurodevelopmental disorders. Here we show that Nf1 inactivation during early, but not late stages of cerebellar development, disrupts neuronal lamination, which is partially caused by overproduction of glia and subsequent disruption of the Bergmann glia (BG) scaffold. Specific Nf1 inactivation in glutamatergic neuronal precursors causes premature differentiation of granule cell (GC) precursors and ectopic production of unipolar brush cells (UBCs), indirectly disrupting neuronal migration. Transient MEK inhibition during a neonatal window prevents cerebellar developmental defects and improves long-term motor performance of Nf1-deficient mice. This study reveals essential roles of Nf1 in GC/UBC migration by generating correct numbers of glia and controlling GC/UBC fate-specification/differentiation, identifying a therapeutic prevention strategy for multiple NF1-associcated developmental abnormalities. DOI: http://dx.doi.org/10.7554/eLife.05151.001 PMID:25535838