bluuebunny/crossref_metadata_2025_split huggingface dataset:
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion
Authors: Buntinx L. , Voets T. , Morlion B. , Vangeel L. , Janssen M. , Cornelissen E. , Vriens J. , de Hoon J. , Levtchenko E. 
Published: October 2016

AbstractCystinosis is a rare autosomal recessive disorder characterized by lysosomal cystine accumulation due to loss of function of the lysosomal cystine transporter (CTNS). The most common mutation in cystinosis patients of Northern Europe consists of a 57-kb deletion. This deletion not only inactivates theCTNSgene but also extends into the non-coding region upstream of the start codon of theTRPV1gene, encoding the capsaicin- and heat-sensitive ion channel TRPV1. To evaluate the consequences of the 57-kb deletion on functional TRPV1 expression, we compared thermal, mechanical and chemical sensitivity of cystinosis patients with matched healthy controls. Whereas patients heterozygous for the 57-kb deletion showed normal sensory responses, homozygous subjects exhibited a 60% reduction in vasodilation and pain evoked by capsaicin, as well as an increase in heat detection threshold. Responses to cold, mechanical stimuli or cinnamaldehyde, an agonist of the related nociceptor channel TRPA1, were unaltered. We conclude that cystinosis patients homozygous for the 57-kb deletion exhibit a strong reduction of TRPV1 function, leading to sensory deficiencies akin to the phenotype of TRPV1-deficient mice. These deficits may account for the reported sensory alterations and thermoregulatory deficits in these patients, and provide a paradigm for life-long TRPV1 deficiency in humans.
Time to Initiation of Clozapine Treatment in Children and Adolescents with Early-Onset Schizophrenia
Authors: Trinczek E. , Heinzel-Gutenbrunner M. , Haberhausen M. , Bachmann C. 
Published: October 2016

Abstract
Introduction: Early-onset schizophrenia (EOS) has a poor prognosis and is difficult to treat, which often leads to the initiation of clozapine treatment. Studies in adults have shown that the initiation of clozapine treatment is often delayed. There is a lack of studies concerning the initiation of clozapine in children and adolescents with EOS. The aim of this study was to investigate the time span from first EOS-related psychiatric hospitalization to clozapine initiation.
Methods: We retrospectively studied a consecutive cohort of children and adolescents with EOS and first-time clozapine prescriptions from a tertiary care child and adolescent psychiatric center in Germany.
Results: Clinical records with data on clozapine initiation were available for 112 patients (35.7% females, mean age: 15.2±1.6 years). The mean time from first EOS-related hospitalization to clozapine initiation was 1.1 (±1.0) years, with an average of 2.3 (±1.1) prior antipsychotic treatment episodes. Higher age and higher IQ predicted earlier clozapine initiation. At the time of clozapine initiation, 40.2% of patients received antipsychotic polypharmacy. Prior to clozapine, 33.9% of patients had received 3 or more antipsychotic treatment episodes.
Discussion: In our study, clozapine treatment was initiated markedly earlier than in the few existing studies, which may partly be due to the expected poor prognosis of EOS. The significant portion of patients undergoing 3 or more antipsychotic trials or antipsychotic polypharmacy prior to clozapine may indicate a need for improved dissemination of knowledge on the effectiveness of clozapine in treatment-resistant schizophrenia in order to promote timely clozapine prescriptions in these cases.
Narrative structure, context and translation in Paulo Coelho’sO Alquimistain English, Arabic and Turkish
Authors: Aljahdali Sawsan A. 
Published: October 2016

AbstractThe contentious bestsellerdom of Coelho’sO Alquimista(published in 1988) has not only placed it endurably on top of the prestigious bestseller lists, but also made it subject to severe criticism. With copyrights sold in 80 languages, the narrative creates a unique form of communication implementing a prolonged, interactive language–culture relationship, and recreating appealingly unique narrative structures addressing readers in new contexts. This study attempts a functional semantico–semiotic reading of the narrative structures ofO Alquimistain English, Arabic and Turkish, relating the “recreated texts” to their sociocultural “context of interpretation”, and viewing them as the outcome of twoseparateacts of communication functioning successively on the samesemantic content. The study argues that rediscoursing the narrative cross-culturally yields variant narrative structures, each constructed twice–internally, in the act of encoding through writing, andexternallythrough the reader–text interaction in reading.
OGLE16aaa - a Signature of a Hungry Super Massive Black Hole
Authors: Wyrzykowski Łukasz , Zieliński M. , Kostrzewa-Rutkowska Z. , Hamanowicz A. , Jonker P.G. , Arcavi I. , Guillochon J. , Brown P.J. , Kozłowski S. , Udalski A. , Szymański M.K. , Soszyński I. , Poleski R. , Pietrukowicz P. , Skowron J. , Mróz P. , Ulaczyk K. , Pawlak M. , Rybicki K.A. , Greiner J. , Krühler T. , Bolmer J. , Smartt S.J. , Maguire K. , Smith K. 
Published: October 2016

Abstract
We present the discovery and first three months of follow-up observations of a currently on-going unusual transient detected by the OGLE-IV survey, located in the centre of a galaxy at redshift z=0.1655. The long rise to absolute magnitude of -20.5 mag, slow decline, very broad He and H spectral features make OGLE16aaa similar to other optical/UV Tidal Disruption Events (TDEs). Weak narrow emission lines in the spectrum and archival photometric observations suggest the host galaxy is a weak-line Active Galactic Nucleus (AGN), which has been accreting at higher rate in the past. OGLE16aaa, along with SDSS J0748, seems to form a sub-class of TDEs by weakly or recently active super-massive black holes (SMBHs). This class might bridge the TDEs by quiescent SMBHs and flares observed as “changing-look QSOs”, if we interpret the latter as TDEs. If this picture is true, the previously applied requirement for identifying a flare as a TDE that it had to come from an inactive nucleus, could be leading to observational bias in TDE selection, thus affecting TDE-rate estimations.
The origin of type-I profiles in cluster lenticulars: An interplay between ram pressure stripping and tidally-induced spiral migration
Authors: Clarke Adam J. , Debattista Victor P. , Roškar Rok , Quinn Tom 
Published: October 2016

Abstract
Using N-body+SPH simulations of galaxies falling into a cluster, we study the evolution of their radial density profiles. When evolved in isolation, galaxies develop a type II (down-bending) profile. In the cluster, the evolution of the profile depends on the minimum cluster-centric radius the galaxy reaches, which controls the degree of ram pressure stripping. If the galaxy falls to ∼50% of the virial radius, then the profile remains type II, but if the galaxy reaches down to ∼20% of the virial radius the break weakens and the profile becomes more type I like. The velocity dispersions are only slightly increased in the cluster simulations compared with the isolated galaxy; random motion therefore cannot be responsible for redistributing material sufficiently to cause the change in the profile type. Instead we find that the joint action of radial migration driven by tidally-induced spirals and the outside-in quenching of star formation due to ram pressure stripping alters the density profile. As a result, this model predicts a flattening of the age profiles amongst cluster lenticulars with type I profiles, which can be observationally tested.
BMI Trumps Age in Decision for Endometrial Biopsy: Cohort Study of Symptomatic Premenopausal Women
Authors: Wise Michelle R. , Gill Premjit , Lensen Sarah , Thompson John M. D. , Farquhar Cynthia M. 
Published: October 2016

(Abstracted from Am J Obstet Gynecol 2016; doi: 10.1016/j.ajog.2016.06.006)
The most common reason for referral to a gynecologist is abnormal uterine bleeding (AUB). Heavy or irregular vaginal bleeding often leads to an invasive diagnostic test such as endometrial biopsy or hysteroscopy.
Single Deepest Vertical Pocket or Amniotic Fluid Index as Evaluation Test for Predicting Adverse Pregnancy Outcome (SAFE Trial): A Multicenter, Open-Label, Randomized Controlled Trial
Authors: Kehl S. , Schelkle A. , Thomas A. , Puhl A. , Meqdad K. , Tuschy B. , Berlit S. , Weiss C. , Bayer C. , Heimrich J. , Dammer U. , Raabe E. , Winkler M. , Faschingbauer F. , Beckmann M. W. , Sütterlin M. 
Published: October 2016

(Abstracted from Ultrasound Obstet Gynecol 2016;47:674–679)
One of the important aspects of fetal well-being assessment is amniotic fluid volume, lack of which leads to oligohydramnios and consequently adverse perinatal outcomes. Amniotic fluid estimation by ultrasound can be performed by assessment of the amniotic fluid index (AFI) or the single deepest vertical pocket (SDP) technique.
Trends and Characteristics of United States Out-of-Hospital Births 2004–2014: New Information on Risk Status and Access to Care
Authors: MacDorman Marian F. , Declercq Eugene 
Published: October 2016

(Abstracted from Birth 2016;43(2):116–124)
Out-of-hospital births in the United States increased rapidly after 2004. This study aimed to examine trends in out-of-hospital births over the past decade and to analyze recently available data on risk status and access to care for out-of-hospital births, including birth center and planned home births, and to compare them with hospital births.
Tenofovir to Prevent Hepatitis B Transmission in Mothers With High Viral Load
Authors: Pan Calvin Q. , Duan Zhongping , Dai Erhei , Zhang Shuqin , Han Guorong , Wang Yuming , Zhang Huaihong , Zou Huaibin , Zhu Baoshen , Zhao Wenjing , Jiang Hongxiu 
Published: October 2016

(Abstracted from N Engl J Med 2016;374:2324–2334)
Hepatitis B virus (HBV), a leading cause of cirrhosis and liver cancer, is a serious health threat, and prevention of HBV transmission is an important part of the strategy to alleviate infection and its outcomes. Hepatitis B virus can be vertically transmitted from mothers to fetuses during childbirth, and infants who are untreated can consequently develop chronic infection.
Validation and Modification of a Severity of Illness Score for Children With Acute Hematogenous Osteomyelitis
Authors: Athey Alexander G. , Mignemi Megan E. , Gheen William T. , Lindsay Eduardo A. , Jo Chan-Hee , Copley Lawson A. 
Published: October 2016

Background:
Children with osteomyelitis demonstrate a wide spectrum of illness. Objective measurement of severity is important to guide resource allocation and treatment decisions, particularly for children with advanced illness. The purpose of this study is to validate and improve a previously published severity of illness scoring system for children with acute hematogenous osteomyelitis (AHO).

Methods:
Children with AHO were prospectively studied during evaluation and treatment by a multidisciplinary team who provided care according to evidence-based guidelines to reduce variation. A severity of illness score was calculated for each child and correlated with surrogate measures of severity. Univariate analysis was used to assess the significance of each parameter within the scoring model along with new parameters, which were evaluated to improve the model. The scoring system was then modified by the addition of band count to replace respiratory rate. The modified score was calculated and applied to the prospective cohort followed by correlation with the surrogate measures of severity.

Results:
One hundred forty-eight children with AHO were consecutively studied. The original severity of illness score correlated well with length of stay and other established measures of severity. Band percent of the white blood cell differential ≥1.5% was found to be significantly associated with severity and chosen to replace respiratory rate in the model. The modified calculated severity scores correlated well with the chosen surrogate measures and significantly differentiated children with osteomyelitis on the basis of causative organism, length of stay, intensive care, surgeries, bacteremia, and disseminated or multifocal disease.

Conclusions:
The findings of this study validate the previously published severity of illness scoring tool in large cohort of children who were prospectively evaluated. The replacement of respiratory rate with band count improved the scoring system.
Intraoperative Radiotherapy in the Era of Intensive Neoadjuvant Chemotherapy and Chemoradiotherapy for Pancreatic Adenocarcinoma
Authors: Keane Florence K. , Wo Jennifer Y. , Ferrone Cristina R. , Clark Jeffrey W. , Blaszkowsky Lawrence S. , Allen Jill N. , Kwak Eunice L. , Ryan David P. , Lillemoe Keith D. , Fernandez-del Castillo Carlos , Hong Theodore S. 
Published: October 2016

Objectives:
Improved outcomes with FOLFIRINOX or gemcitabine with nab-paclitaxel in the treatment of metastatic pancreatic adenocarcinoma (PDAC) have prompted incorporation of these regimens into neoadjuvant treatment of locally advanced unresectable PDAC. Whereas some patients remain unresectable on surgical exploration, others are able to undergo resection after intensive neoadjuvant treatment. We evaluated outcomes and toxicity associated with use of intensive neoadjuvant treatment followed by intraoperative radiotherapy (IORT) in combination with resection or exploratory laparotomy.

Methods:
We retrospectively analyzed patients with locally advanced unresectable or borderline-resectable PDAC who received intensive neoadjuvant treatment with induction chemotherapy and chemoradiotherapy followed by exploratory laparotomy in an IORT-equipped operating suite between 2010 and 2015. Surgical outcomes and overall survival (OS) were compared.

Results:
Of 68 patients, 41 (60.3%) underwent resection, 18 (26.5%) had unresectable disease, and 9 (13.2%) had distant metastases. Of 41 resectable patients, 22 received IORT for close/positive resection margins on intraoperative frozen section. There was no significant difference in operative times or morbidity with addition of IORT to resection. Median OS was 26.6 months for all patients who underwent resection, 35.1 months for patients who underwent resection and IORT, and 24.5 months for patients who underwent resection alone (P=NS). Of 18 patients with unresectable disease, all but 1 received IORT, with median OS of 24.8 months. IORT was associated with increased hospital stay (4 vs. 3.5 d), but no significant difference in operative times or morbidity.

Conclusions:
IORT in addition to intensive neoadjuvant chemotherapy and chemoradiotherapy was not associated with increased toxicity when used with resection or exploratory laparotomy, and was associated with encouraging survival rates in patients with close/positive margins and patients with unresectable disease.
Decellularized Matrix and Supplemental Fat Grafting Leads to Regeneration following Traumatic Fingertip Amputation
Authors: Sivak Wesley N. , Ruane Edward J. , Hausman Steven J. , Rubin J. Peter , Spiess Alexander M. 
Published: October 2016

Summary:
Decellularized scaffold materials are capable of regenerating missing tissues when utilized under appropriate conditions. Fat grafting also has reported advantages in revitalizing damaged tissue beds. This report details a case of traumatic fingertip amputation treated with a combination of decellularized materials in conjunction with fat grafting, resulting in a supple and functional reconstruction of the affected digit. After traumatic fingertip amputation, a patient was initially treated with decellularized porcine urinary bladder matrix powder. As a second stage, the healed tip scar tissue was reexcised, and a second application of powder was applied. As a third stage, the tip scar tissue was reexcised and a decellularized bilayer was sewn into the soft tissues of the debrided tip, resulting in an improved soft tissue envelope. As a final stage, the restored fingertip soft tissue envelope was fat grafted for additional bulk. Patient underwent treatment every other day with decellularized porcine urinary bladder matrix (powder and bilayer) and was able to reasonably regenerate the traumatic fingertip soft tissue envelope. This resulted in an envelope that was further enhanced with fat grafting. The resulting digit was sensate with maintained length, and possessed a more normal appearance than would be achieved by healing by secondary intention, or local flap or graft coverage. Decellularized materials can be utilized in conjunction with fat grafting to treat traumatic fingertip amputations in select patients. This combination approach is able to achieve a sensate fingertip and regain length lost in the affected digit. Additionally, we describe a novel technique that can be employed to maximize the amount of soft tissue regenerated by the decellularized products.
Inhibiting p21-Activated Kinase Induces Cell Death in Vestibular Schwannoma and Meningioma via Mitotic Catastrophe
Authors: Mercado-Pimentel Melania Ester , Miller Craig , Rolph Daniela N. , Villalobos Edrick F. , Dunn Allison M. , Mohan Prithvi M. , Igarashi Suzu , Liu Xiangdang , Yrun-Duffy Macken , Patel Neal K. , Read Cecilia M. , Francis Ross H. , Lane Adelina Isabella , Murugesh Swaroop , Jacob Abraham 
Published: October 2016

Hypothesis:
p21-activated kinase (PAK) regulates signaling pathways that promote cell survival and proliferation; therefore, pharmacological inhibition of PAK will induce cell death in vestibular schwannomas (VS) and meningiomas.

Background:
All VS and many meningiomas result from loss of the neurofibromatosis type 2 (NF2) gene product merlin, with ensuing PAK hyperactivation and increased cell proliferation/survival.

Methods:
The novel small molecule PAK inhibitors PI-8 and PI-15—tested in schwannoma and meningioma cells—perturb molecular signaling and induce cell death. 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide, flow cytometry, and terminal deoxynucleotidyl transferase dUTP nick end labeling assay analyzed PAK inhibitors’ effect on cell viability, cell cycle, and cell death, respectively. Western blots evaluated activation and expression of cell proliferation, apoptotic, and mitotic catastrophe markers. Light microscopy evaluated cell morphology, and immunocytochemistry analyzed cellular localization of phospho-Merlin and autophagy-related protein.

Results:
Treatment with PI-8 and PI-15 decreased cell viability at 0.65 to 3.7 μM 50% inhibitory concentration (IC50) in schwannoma and meningioma cells. Terminal deoxynucleotidyl transferase dUTP nick end labeling and immunocytochemistry studies show that PI-8 and PI-15 induce mitotic catastrophe but not apoptosis in HEI193 cells while in BenMen1 cells, PI-8 induces autophagy and mitotic catastrophe. PI-15 induces apoptosis in BenMen1 cells. PAK inhibitor treated cells show phospho-Merlin localized to over-duplicated centrosomes of dividing cells, multiple enlarged nuclei, and misaligned/missegregated chromosomes—markers for mitotic catastrophe. Increased autophagy-related protein levels in the nucleus confirmed this cell death type. PI-8 and PI-15 inhibits PAK in both cell lines. However, only PI-15 inhibits v-akt murine thymoma viral oncogene homolog in BenMen1 cells.

Conclusion:
PAK inhibitors induce cell death in schwannoma and meningioma cells, at least in part, by mitotic catastrophe.
Hemifacial Spasm Secondary to Parotid Pleomorphic Adenoma With Stylomastoid Foramen Extension
Authors: Martin Eliot J. , Carlson Matthew L. , Moore Eric J. , Jackson Ryan S. 
Published: October 2016

Objective:
To report hemifacial spasm (HFS) as a rare presenting symptom of a benign parotid neoplasm involving the stylomastoid foramen.

Methods:
Case report with literature review.

Results:
An 18-year-old woman presented with a 1-year history of a progressively enlarging right infra-auricular mass with new onset ipsilateral severe HFS. Clinical vetting unveiled a palpable 2 cm, firm, minimally mobile mass medial to the angle of the mandible. Imaging revealed a heterogeneous intraparotid mass with tumor extension into the stylomastoid foramen. Diagnostic consideration was given to neurogenic tumors and neoplasms of parotid origin.
The patient ultimately underwent superficial parotidectomy and the tumor was found superficial and extrinsic to the proximal facial nerve trunk but extended into the stylomastoid foramen. The tumor was removed after performing mastoidectomy with mastoid segment facial nerve decompression. Frozen section pathology was consistent with pleomorphic adenoma. Postoperatively the patient had normal facial nerve function with immediate and complete resolution of HFS. To date there are only three other published reports of benign parotid tumors presenting with HFS and this is the first illustrating intratemporal tumor extension.

Conclusions:
HFS is a rare presenting symptom associated with benign parotid neoplasms with scarce documentation in the literature. In this index case, tumor extirpation with mastoid segment facial nerve decompression provided immediate and durable resolution of symptoms.
The Association of Bifidobacterium breve BR03 and B632 is Effective to Prevent Colics in Bottle-fed Infants
Authors: Giglione Enza , Prodam Flavia , Bellone Simonetta , Monticone Sonia , Beux Sheila , Marolda Agostina , Pagani Alessia , Di Gioia Diana , Del Piano Mario , Mogna Giovanni , Bona Gianni 
Published: October 2016

Goals:
To assess the effectiveness of Bifidobacterium breve B632 and BR03 association in the reduction of infants crying over time. The second endpoint was to observe the effect of the same strains on daily evacuations and on the number of regurgitations and vomits.

Background:
Infant colics represent a clinical condition in childhood, characterized by an uncontrollable crying that occurs without any apparent organic cause. An altered intestinal microbiota composition in the very first months may induce intestinal colics in infants. Thus far, no treatment is really effective for this problem, but recent literature shows an increasing attention toward probiotics.

Study:
A total of 83 subjects were enrolled, 60 breastfed infants and 23 bottle-fed infants. Sixty of them carried out the study: 29 infants were given probiotics, whereas 31 placebo. During the 90 days of the study, parents were asked to give 5 drops of active product (108 viable cells/strain) or placebo and to daily take note of: minutes of crying, number, color, and consistency of evacuations, and number of regurgitations or vomits.

Results:
No significant differences were detected in the infants treated with probiotics, compared with placebo group (P=0.75). The analysis of the 3 months of treatment demonstrated that during the third month, the probiotic group cried 12.14 minutes on average and the placebo cried 46.65 minutes. This difference is statistically significant (P=0.016).

Conclusions:
The evidence of the usefulness of some probiotic strains in the treatment and prevention of infant colics is growing, and therefore their use in clinical practice is spreading.