bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prader-Willi syndrome, excessive daytime sleepiness, and narcoleptic symptoms: a case report
Authors: Weselake Sara V , Foulds Jessica L , Couch Robert , Witmans Manisha B , Rubin Daniela , Haqq Andrea M 
Published: April 2014

Abstract

Introduction
Sleep abnormalities, including narcolepsy and cataplexy, are a common feature of Prader-Willi syndrome. Long-term treatment with the central nervous system stimulant modafinil has not been reported. In this case report we present a longitudinal perspective of sleep abnormalities in a nine-year-old Caucasian girl with Prader-Willi syndrome from age two to age nine, and detail the response to treatment with the central nervous system stimulant modafinil.

Case presentation
Our patient presented at two years of age with hypersomnia and narcoleptic episodes with cataplectic features. Initial polysomnograph testing revealed adequate sleep efficiency, but increased sleep fragmentation especially during rapid eye movement sleep. The narcoleptic episodes continued and a repeat polysomnograph at age five years confirmed features consistent with narcolepsy. Further sleep studies at six years, including a multiple sleep latency test, demonstrated signs of excessive daytime sleepiness. Treatment with modafinil was initiated at age seven years six months due to persistent hypersomnia and narcoleptic symptoms. Two polysomnograph studies were performed following treatment with modafinil, at age eight years six months and nine years three months. These studies showed excellent sleep efficiency and improvement of rapid eye movement sleep parameters, supporting the beneficial effects of long-term modafinil therapy.

Conclusions
Long-term modafinil therapy may ameliorate the sleep disturbances of Prader-Willi syndrome and should be the focus of future clinical trials.
Identification of novel molecular regulators of tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-induced apoptosis in breast cancer cells by RNAi screening
Authors: Garimella Sireesha V , Gehlhaus Kristie , Dine Jennifer L , Pitt Jason J , Grandin Magdalena , Chakka Sirisha , Nau Marion M , Caplen Natasha J , Lipkowitz Stanley 
Published: April 2014

Abstract
Introduction
Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) binds to its receptors, TRAIL-receptor 1 (TRAIL-R1) and TRAIL-receptor 2 (TRAIL-R2), leading to apoptosis by activation of caspase-8 and the downstream executioner caspases, caspase-3 and caspase-7 (caspase-3/7). Triple-negative breast cancer (TNBC) cell lines with a mesenchymal phenotype are sensitive to TRAIL, whereas other breast cancer cell lines are resistant. The underlying mechanisms that control TRAIL sensitivity in breast cancer cells are not well understood. Here, we performed small interfering RNA (siRNA) screens to identify molecular regulators of the TRAIL pathway in breast cancer cells.

Methods
We conducted siRNA screens of the human kinome (691 genes), phosphatome (320 genes), and about 300 additional genes in the mesenchymal TNBC cell line MB231. Forty-eight hours after transfection of siRNA, parallel screens measuring caspase-8 activity, caspase-3/7 activity, or cell viability were conducted in the absence or presence of TRAIL for each siRNA, relative to a negative control siRNA (siNeg). A subset of genes was screened in cell lines representing epithelial TNBC (MB468), HER2-amplified breast cancer (SKBR3), and estrogen receptor-positive breast cancer (T47D). Selected putative negative regulators of the TRAIL pathway were studied by using small-molecule inhibitors.

Results
The primary screens in MB231 identified 150 genes, including 83 kinases, 4 phosphatases, and 63 nonkinases, as potential negative regulators of TRAIL. The identified genes are involved in many critical cell processes, including apoptosis, growth factor-receptor signaling, cell-cycle regulation, transcriptional regulation, and DNA repair. Gene-network analysis identified four genes (PDPK1, IKBKB, SRC, and BCL2L1) that formed key nodes within the interaction network of negative regulators. A secondary screen of a subset of the genes identified in additional cell lines representing different breast cancer subtypes and sensitivities to TRAIL validated and extended these findings. Further, we confirmed that small-molecule inhibition of SRC or BCL2L1, in combination with TRAIL, sensitizes breast cancer cells to TRAIL-induced apoptosis, including cell lines resistant to TRAIL-induced cytotoxicity.

Conclusions
These data identify novel molecular regulators of TRAIL-induced apoptosis in breast cancer cells and suggest strategies for the enhanced application of TRAIL as a therapy for breast cancer.
Biomarkers of cardio-renal damage in chronic kidney disease: one size cannot fit all
Authors: Bolignano Davide , Coppolino Giuseppe 
Published: April 2014

AbstractBiomarkers are useful tools for diagnosis and risk assessment of acute kidney injury and acute heart failure, particularly in ICU patients. Most biomarkers are produced or cleared by the kidney, so the presence of chronic kidney disease may affect their clinical reliability, particularly if the putative diagnosis of acute kidney injury or acute heart failure is based on a single measurement/single threshold approach. Better alternatives, such as establishing different diagnostic cutoff values per different chronic kidney disease strata or evaluating the diagnostic performance of a delta value (change from baseline levels) instead of a single threshold, should be carefully considered in critically ill patients with renal impairment and other co-morbidities.Chronic kidney disease (CKD) is highly prevalent in the ICU population and conveys a higher risk of developing both acute kidney injury (AKI) and acute heart failure (AHF). Early serum and urine biomarkers of AKI and AHF may improve diagnosis and risk stratification. Most biomarkers are affected by renal function impairment, however, so the presence of CKD may hamper their predictive capacity.
Evidence for vocal learning in juvenile male killer whales,Orcinus orca, from an adventitious cross-socializing experiment
Authors: Crance Jessica L. , Bowles Ann E. , Garver Alan 
Published: April 2014

AbstractKiller whales (Orcinus orca) are thought to learn their vocal dialect. Dispersal in the species is rare, but effects of shifts in social association on the dialect can be studied under controlled conditions. Individual call repertoires and social association were measured in three adult female killer whales and three males (two juveniles and an adult) during two periods, 2001-2003 and 2005-2006. Three distinct dialect repertoires were represented among the subjects. An adventitious experiment in social change resulted from the birth of a calf and the transfer of two non-focal subjects in 2004. Across the two periods, 1691 calls were collected, categorized, and attributed to individuals. Repertoire overlap for each subject dyad was compared with an index of association. During 2005-2006, the two juvenile males increased association with the unrelated adult male. By the end of the period, both had begun producing novel calls and call features characteristic of his repertoire. However, there was little or no reciprocal change and the adult females did not acquire his calls. Repertoire overlap and association were significantly correlated in the first period. In the second, median association time and repertoire similarity increased, but the relationship was only marginally significant. The results provided evidence that juvenile male killer whales are capable of learning new call types, possibly stimulated by change in social association. The pattern of learning was consistent with a selective convergence of male repertoires.
Financing and Investment Efficiency, Information Quality, and Accounting Biases
Authors: Nan Lin , Wen Xiaoyan 
Published: April 2014

In this paper, we investigate the effect of accounting biases on firms' financing decisions and the role of accounting biases in endogenous information quality. We show that in industries with generally low-profit prospects, a downward-biased accounting system performs better than a neutral accounting system, and a more downward bias helps mitigate both investment and financing inefficiency; whereas for industries with generally high-profit prospects, an upward-biased accounting system is better than a neutral accounting system, and a more upward bias helps improve financing efficiency. In addition, we find that a more downward-biased accounting system motivates good firms to exert more effort to improve the information quality, which improves overall efficiency. This paper was accepted by Mary Barth, accounting.
Endovascular Treatment and Computed Imaging Follow-up of 14 Anterior Condylar Dural Arteriovenous Fistulas
Authors: Hsu Yu-Hone , Lee Chung-Wei , Liu Hon-Man , Wang Yao-Hung , Chen Ya-Fang 
Published: April 2014

We report our experience in treating the anterior condylar dural arteriovenous fistula (DAVF) and confirm the location of the coils in the follow-up images after successful endovascular treatment. We retrospectively reviewed the 14 patients with anterior condylar DAVF treated successfully in our institute. Twelve of them had CT or MR follow-up images. All the patients had intravascular coiling of the fistula. Seven of our patients had retrograde drainage to different sinuses. Three had ocular symptoms as a clinical manifestation. We treated nine patients with coils alone (eight transvenous, one transarterial), four with adjuvant transarterial treatment with particles or liquid embolic for minimal residual after coiling packing. One patient had failed onyx treatment and successful treatment by following transvenous packing. All patients had total obliteration of the DAVF fistula on immediate post-procedure angiogram or on the follow-up images and no evidence of recurrence clinically. The mean follow-up period was 34.2 months (standard deviation=39.8). Twelve patients had computed images (CT alone in four, MR alone in five, both CT and MR in three). These findings were analyzed by four certified neuroradiologists. We found 100% of the coils at the anterior condylar veins inside the hypoglossal canal, 54.2% at the lateral lower clivus, and only 14.2% at the anterior condylar confluence which is ventrolateral to the anterior orifice of the hypoglossal canal. Intravascular coiling is the treatment of choice in patients with anterior condylar DAVF. All the coils were found at the anterior condylar veins inside the hypoglossal canal after successful treatment.
Safety of Preprocedural Antiplatelet Medication in Coil Embolization of Ruptured Cerebral Aneurysms at the Acute Stage
Authors: Shimamura Norihito , Naraoka Masato , Matsuda Naoya , Ohkuma Hiroki 
Published: April 2014

Preoperative antiplatelet medication for aneurysm coil embolization during acute subarachnoid hemorrhage (SAH) is not common. However, recent advances in neurointerventional devices make antiplatelet medication necessary for SAH surgery. We tested the hypothesis that preprocedural antiplatelet therapy in the acute stage of SAH prevents complications due to ischemia or induced bleeding. We retrospectively reviewed 35 consecutive ruptured cerebral saccular aneurysms that underwent coiling at our institute. Two hundred milligrams of aspirin and 150 mg of clopidogrel were administered to the patients at least two hours before coiling. Systemic heparinization was given after sheath insertion. Procedure-related thrombus formation on digital subtraction angiography, and clinical evidence of ischemia and procedure-related stroke on CT were reviewed. The median patient age was 69 years. Five males and 30 females were included. Seventy-seven percent of patients were Hunt-Hess grades 1 to 3. Assist techniques were used in 20 cases (57%). We inserted one extracranial internal carotid artery stent, but no intracranial stent. Intraoperative thrombosis occurred in one case (2.9%), with no clinical symptoms. Postoperative cerebrospinal fluid drainage was done in three cases, but we experienced no bleeding complications. Preoperative antiplatelet therapy leads to a low rate of thromboembolic events in coiling during acute stage SAH, and this strategy had no adverse influence on bleeding complications.
The I-TevI Nuclease and Linker Domains Contribute to the Specificity of Monomeric TALENs
Authors: Kleinstiver Benjamin P , Wang Li , Wolfs Jason M , Kolaczyk Tomasz , McDowell Brendon , Wang Xu , Schild-Poulter Caroline , Bogdanove Adam J , Edgell David R 
Published: April 2014

Abstract
Precise genome editing in complex genomes is enabled by engineered nucleases that can be programmed to cleave in a site-specific manner. Here, we fused the small, sequence-tolerant monomeric nuclease domain from the homing endonuclease I-TevI to transcription-like activator effectors (TALEs) to create monomeric Tev-TALE nucleases (Tev-mTALENs). Using the PthXo1 TALE scaffold to optimize the Tev-mTALEN architecture, we found that choice of the N-terminal fusion point on the TALE greatly influenced activity in yeast-based assays, and that the length of the linker used affected the optimal spacing of the TALE binding site from the I-TevI cleavage site, specified by the motif 5′-CNNNG-3′. By assaying activity on all 64 possible sequence variants of this motif, we discovered that in the Tev-mTALEN context, I-TevI prefers A/T-rich triplets over G/C-rich ones at the cleavage site. Profiling of nucleotide requirements in the DNA spacer that separates the CNNNG motif from the TALE binding site revealed substantial, but not complete, tolerance to sequence variation. Tev-mTALENs showed robust mutagenic activity on an episomal target in HEK 293T cells consistent with specific cleavage followed by nonhomologous end-joining repair. Our data substantiate the applicability of Tev-mTALENs as genome-editing tools but highlight DNA spacer and cleavage site nucleotide preferences that, while enhancing specificity, do confer moderate targeting constraints.
Comparative time efficiency of aligner therapy and conventional edgewise braces
Authors: Buschang Peter H. , Shaw Steven G. , Ross Mike , Crosby Doug , Campbell Phillip M. 
Published: April 2014

ABSTRACT

Objective:
To compare the time efficiency of aligner therapy (ALT) and conventional edgewise braces (CEB) based on large samples of patients treated by the same highly experienced orthodontist, with the same treatment goals for both groups of patients.

Materials and Methods:
The retrospective portion of the study evaluated 150 CEB patients who were matched, based on mandibular crowding and number of rotated teeth, to 150 ALT patients. All records were obtained at one orthodontist's office. All of the patients had mild-to-moderate Class I malocclusions (≤5 mm incisor crowding) and were treated nonextraction. Age, gender, total treatment time, total number of appointments, types of appointments, materials used, mandibular crowding, and number of rotated teeth were recorded from the patients' records. The prospective portion of the study timed the various types of appointments for both treatments with a stopwatch.

Results:
Compared to ALT, CEB required significantly (P &lt; .01) more visits (approximately 4.0), a longer treatment duration (5.5 months), more emergency visits (1.0), greater emergency chair time (7.0 minutes), and greater total chair time (93.4 minutes). However, ALT showed significantly (P &lt; .01) greater total material costs and required significantly more total doctor time than CEB (P &lt; .01).

Conclusions:
Whether the greater time efficiency of ALT offsets the greater material costs and doctor time required depends on the experience of the orthodontist and the number of ALT case starts.
Study of predictors of hypoxemia in children with Pneumonia
Authors: Sah HD 
Published: April 2014

Objective To study the sign and symptoms of hypoxemia in children with pneumonia and to identify its clinical predictors in children between two months to five years of age. Methods Children between two to five years of age suffering from cough or difficult breathing were assessed. Arterial oxygen saturation was measured with a pulse oxymeter and child was labeled hypoxic if <90%. The children were categorized into four types according to WHO criteria-Cough and cold, pneumonia, severe pneumonia and very severe pneumonia. Results Out of 200 patients that were included in the study population, 101(51%) were found hypoxemic and was found in all grades of pneumonia. Frequency of hypoxemia increased with the severity of pneumonia being 100% for very severe pneumonia, 84% for severe pneumonia and 9% for pneumonia. None of the patients in the cough and cold category was found hypoxic. On univariate analysis, different predictors for hypoxemia found were inability to feed and drink, lethargy, tacypnoea, central cyanosis, chest indrawing and grunting. Discussion Prevalence of hypoxemia decreased with increasing age of the child. Significantly more number of infants (2–12months) were hypoxemic as compared to elder children. Conclusion Pneumonia in infants is risk factor for hypoxemia. Children less than one year with cough and difficult breathing were at more risk for hypoxemia. Prevalence and clinical predictors of hypoxemia validated WHO classification of pneumonia based on severity. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 1-8DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10230
Incomplete Kawasaki disease - a diagnostic and therapeutic challenge
Authors: Datta S , Maiti S , Das G , Chatterjee A , Ghosh P 
Published: April 2014

Background The diagnosis of classical Kawasaki Disease was based on clinical criteria. The conventional criteria is particularly useful in preventing over diagnosis, but at the same time it may result in failure to recognize the incomplete form of Kawasaki Disease. Objective To suspect incomplete Kawasaki Disease, because early diagnosis and proper treatment may reduce substantial risk of developing coronary artery abnormality which is one of the leading causes of acquired heart disease in children. Method Nine cases of incomplete Kawasaki Disease were diagnosed over a period of one year. The diagnosis of incomplete Kawasaki Disease was based on fever for five days with less than four classical clinical features and cardiac abnormality detected by 2D- echocardiography. A repeat echocardiography was done after 6 weeks of onset of illness. The patients were treated with Intravenous Immunoglobulin and/or aspirin. Result The mean age of the patients was 3.83 years and the mean duration of symptoms before diagnosis was 12.1 days. Apart from other criteria all of our patients had edema and extreme irritability. All the patients had abnormal echocardiographic finding. Five patients received only aspirin due to nonaffordability of Intravenous Immunoglobulin and four patients received both aspirin and Intravenous Immunoglobulin, but the outcome was excellent in all the cases. Conclusion Incomplete Kawasaki Disease can be diagnosed with more awareness and aspirin alone may be used as a second line therapy in case of non affordability of Intravenous Immunoglobulin. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 30-35 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10234
Bicycle-spoke injuries of the foot and ankle: A prospective study
Authors: Gupta HK , Shrestha R 
Published: April 2014

Objective Bicycle spoke wheel injuries can be as simple as minor abrasions and lacerations even to amputation of toes and heel injuries. The purpose of this study was to assess the severity of soft tissue damage and skeletal injuries in such injuries. Methods This prospective observational study included all the cases with spoke wheel injuries presenting between October 2012 to September 2013 in the College of Medical Sciences and Teaching Hospital, Bharatpur. Demographic information was collected from each patient including age, sex, injured side, position at the time of injury, and characteristic of injury. The soft tissue injury was classified according to Oestern and Tscherne classification and managed accordingly. Results A total of 50 cases were included in the study with 29 males ( 58%) and 21 females (42% ). Their age ranged from 6 yrs to 12 yrs (mean 9 yrs.). The mean interval from injury to presentation in hospital was 5 hrs (range 1-22 hrs). Majority had injury to right ankle and foot. Fore foot and mid foot injuries were more common when the feet got entrapped in front wheel. 36 cases had sustained injury while riding as pillion on the back seat and their injury was on posterior ankle (n=20) and posterolateral aspect of ankle and foot (n=16). Majority of cases were of grade 0 and 1 injury. Two patients had grade 3 injury, one with great toe amputation another with partial heel avulsion and exposed tendoachilles. All cases were managed with wound care, tetanus prophylaxis and splintage of the foot. Conclusion In our study we found that these spoke wheel related injuries were more common in children and are important cause of temporary loss of daily activities. Although all injuries healed properly, risk of severe injuries like amputations and heel pad loss and tendoachilles transaction and fractures of foot and ankle still prevails where bicycle is a common mode of transportation. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 36-39 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10236
A case of Undifferentiated connective tissue disease
Authors: Chatterjee A , Chatterjee K , Sarkar N 
Published: April 2014

Undifferentiated connective tissue disease is an overlap syndrome in which the features of more than one disease is present but their complete diagnosis is lacking. We are presenting an 11year child with fever, arthritis, polyserositis, myalgia, nephritis, sclerodactyly with positive anti-dsDNA and anti-Smith antibody. She improved with prednisolone and cyclophosphamide. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10238
Atypical presentation of Goldenher syndrome- a rare scenario
Authors: Lath C , Sen S , Mondal M , Maiti D , Singh R , Bose R 
Published: April 2014

In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement. Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239