bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece
Authors: Koumpis Chrissovaladis , Dimitrakakis Constantine , Antsaklis Aris , Royer Robert , Zhang Shiyu , Narod Steven A , Kotsopoulos Joanne 
Published: November 2011

Abstract

Background
Inheritance of a mutation in either BRCA1 or BRCA2 accounts for approximately 5% of all breast cancer cases, but varies by country. Investigations into the contribution of BRCA mutations to breast cancer incidence in Greece have been, for the most part, limited by small sample sizes and by the use of cases selected for their family history of cancer. The aim of the current study was to estimate BRCA mutation frequencies in breast cancer patients unselected for family history.

Methods
To do so, we enrolled 127 unselected women with breast cancer from the Alexandra Hospital in Athens, Greece, a large public hospital in the city. Mutations in BRCA1 and BRCA2 were detected using a combination of techniques and were confirmed by direct sequencing. Two large genomic deletions were sought using mutation-specific assays. A detailed family history of cancer was obtained from each patient.

Results
We were able to successfully complete testing on samples from 127 women. Among these, six mutations were identified (four in BRCA1 and two in BRCA2) representing 4.7% of the total or 9.5% of cases diagnosed before age forty. None of the mutation carriers had a family history of breast or ovarian cancer. Three of the four BRCA1 mutations were in exon 20: two were a G5331A mutation and the third was a 3.2 kb deletion. The fourth BRCA1 mutation was the 3819delGTAAA in exon 11. The two BRCA2 mutations were in exon 11 (3782del10 and 4512insT).

Conclusions
The G5331A mutation in BRCA1 appears to be a founder mutation in the Greek population.
Attenuation of prostaglandin E2 elimination across the mouse blood-brain barrier in lipopolysaccharide-induced inflammation and additive inhibitory effect of cefmetazole
Authors: Akanuma Shin-ichi , Uchida Yasuo , Ohtsuki Sumio , Tachikawa Masanori , Terasaki Tetsuya , Hosoya Ken-ichi 
Published: November 2011

Abstract

Background
Peripheral administration of lipopolysaccharide (LPS) induces inflammation and increases cerebral prostaglandin E2 (PGE2) concentration. PGE2 is eliminated from brain across the blood-brain barrier (BBB) in mice, and this process is inhibited by intracerebral or intravenous pre-administration of anti-inflammatory drugs and antibiotics such as cefmetazole and cefazolin that inhibit multidrug resistance-associated protein 4 (Mrp4/Abcc4)-mediated PGE2 transport. The purpose of this study was to examine the effect of LPS-induced inflammation on PGE2 elimination from brain, and whether antibiotics further inhibit PGE2 elimination in LPS-treated mice.

Methods
[3H]PGE2 elimination across the BBB of intraperitoneally LPS-treated mice was assessed by the brain efflux index (BEI) method. Transporter protein amounts in brain capillaries were quantified by liquid chromatography-tandem mass spectrometry.

Results
The apparent elimination rate of [3H]PGE2 from brain was lower by 87%, in LPS-treated mice compared with saline-treated mice. The Mrp4 protein amount was unchanged in brain capillaries of LPS-treated mice compared with saline-treated mice, while the protein amounts of organic anion transporter 3 (Oat3/Slc22a8) and organic anion transporting polypeptide 1a4 (Oatp1a4/Slco1a4) were decreased by 26% and 39%, respectively. Either intracerebral or intravenous pre-administration of cefmetazole further inhibited PGE2 elimination in LPS-treated mice. However, intracerebral or intravenous pre-administration of cefazolin had little effect on PGE2 elimination in LPS-treated mice, or in LPS-untreated mice given Oat3 and Oatp1a4 inhibitors. These results indicate that peripheral administration of cefmetazole inhibits PGE2 elimination across the BBB in LPS-treated mice.

Conclusion
PGE2 elimination across the BBB is attenuated in an LPS-induced mouse model of inflammation. Peripheral administration of cefmetazole further inhibits PGE2 elimination in LPS-treated mice.
Implementation and Evaluation of a Home Gavage Program for Preterm Infants
Authors: Sturm Lynn 
Published: November 2011

Purpose: To describe the implementation and evaluation of a home gavage program for preterm infants.Design: Retrospective chart reviews were used to assess physiologic progress of infants, and retrospective written questionnaires were administered by mail to families participating in home gavage to assess their experience and solicit advice.Sample: One hundred forty-three infants born at <37 weeks gestational age with a primary diagnosis of prematurity who met criteria for home gavage, of whom 52 were given home gavage and 91 attained full oral feedings in intensive care before discharge.Main Outcome Variables: The safety of home gavage was evaluated by weight change and hospital readmission. Parental satisfaction was assessed by the mailed survey. Cost savings also were evaluated.Results: Infants gained an average of 31 gm/day while receiving home gavage. No hospital readmissions were related to home gavage. Parents expressed satisfaction with the home gavage program. There was an average savings of $12,428 per infant related to shorter hospital stays.
Haddad Syndrome: A Case Study
Authors: Shuman Lisa , Youmans Diane 
Published: November 2011

Hirschsprung’s disease (HD), also known as congenital aganglionic megacolon, is a relatively common cause of congenital obstruction of the colon. Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare condition involving failed autonomic respiration in the absence of cardiorespiratory disease resulting in inadequate alveolar ventilation. Both conditions typically present in the newborn period and belong to a group of disorders referred to as neurocristopathies.HD and CCHS most commonly exist as discrete entities, but the coexistence of them is now called Haddad syndrome. Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.
Pain Assessment and Pharmacologic Management for Infants with NEC: A Retrospective Chart Audit
Authors: Gibbins Sharyn , Maddalena Patricia , Moulsdale Wendy , Garrard Fiona , Mohamed Taslin jan , Nichols Allyson , Asztalos Elizabeth 
Published: November 2011

Purpose:To examine (1) the frequency and types of painful procedures, (2) the frequency and types of analgesic/sedative use, and (3) the frequency of documented pain assessments that infants experience during the five days following a diagnosis of necrotizing enterocolitis (NEC).Design:A retrospective descriptive cohort design.Sample:Thirty-nine infants from one tertiary care unit diagnosed with stage II NEC.Main Outcome Variable:Painful procedure data were classified into highly invasive procedures and moderately invasive procedures and were collected for five days following the diagnosis of NEC. Frequency and types of analgesic/sedative administration and frequency of documented pain assessments during each of the five days following the NEC diagnosis were collected.Results:The average number of painful procedures was 16.3 per day, with documented PIPP scores performed on 30–60 percent of the infants during each of the days following the diagnosis of NEC. At no time were more than two PIPP scores per infant documented in a 24-hour period. Analgesics were used in 52–76 percent of infants during the first three days following the diagnosis of NEC, but use decreased gradually on the fourth and fifth days. No correlation between painful procedures and analgesic/sedative administration on any day was found. Similarly, no correlation between documented PIPP scores and analgesic/sedative use on any day was found.
Evaluation of the Impact of the S.T.A.B.L.E. Program on the Pretransport Care of the Neonate
Authors: O’Neill Nancy , Howlett Alexandra 
Published: November 2011

Purpose: To determine whether the S.T.A.B.L.E. Program increases health care providers’ confidence and clinical abilities in pretransport stabilization and to assess the care of transported neonates before and after S.T.A.B.L.E. Program education.Design: A descriptive design was used to evaluate health care providers’ confidence about pretransport stabilization and to assess infant outcomes before and after S.T.A.B.L.E. education.Sample: Sixty-four participants in the S.T.A.B.L.E. Program in Nova Scotia participated in this study over a 13-month period. The study evaluated the charts of all neonates transported to the IWK Health Centre over two one-year periods, before and after the S.T.A.B.L.E. Program.Main Outcome Variable: Perceived confidence and incorporation of S.T.A.B.L.E. Program principles among regional health care providers and neonatal stability at time of transfer were measured.Results: Ninety-six percent of participants indicated that the course was relevant and useful. Ninety percent indicated that they felt more confident about their ability to provide neonatal pretransport stabilization, and 86.5 percent reported adoption of the S.T.A.B.L.E. Program principles into their practice. There were no differences in infant outcomes between the pre- and post-S.T.A.B.L.E. time periods.
Ventricular Reservoir Punctures Performed by Nurses: An Improvement in Quality of Care
Authors: Brouwer Annemieke , Groenendaal Floris , van den Hoogen Agnes , de Vos Jannie , de Vries Linda 
Published: November 2011

Management strategies in the treatment of infants with posthemorrhagic ventricular dilation include the placement of a ventricular reservoir. Traditionally, ventricular punctures of these reservoirs have been performed only by physicians. In the pilot project described in this article, we taught nursing staff to perform punctures of a cerebral ventricular reservoir in neonates with hydrocephalus to give nurses more control in their daily care of these infants.All consecutive punctures performed between August 2006 and March 2007 (n = 302) were studied. The chart was reviewed for the infant’s state during the puncture, the caregiver who performed the puncture, and the timeliness of the puncture with respect to schedule and to infant state. During the day shift, there was no significant difference in timeliness, whether the puncture was performed by a physician, a nurse, a physician assistant (PA), or a nurse under the supervision of a physician. On the night shift, punctures were performed on schedule significantly more often when they were carried out by nurses (p>.001). This pilot project demonstrated that nurses can learn to perform cerebrospinal fluid removal from a ventricular reservoir. Because it increased the timeliness with which punctures were performed and gave nurses more control in planning rest periods for these infants, this policy change was judged a success.
In the Critically Ill, Nothing-by-Mouth Infant, Would Enteral Administration of Simulated Amniotic Fluid Improve Feeding Tolerance Compared with the Current Practice of No Therapy? An Evidence-Based Review
Authors: Smith Caren G. 
Published: November 2011

AbstractNecrotizing enterocolitis (NEC) can be a devastating disease in the NICU population. The current standard of practice of not providing enteral nutrition to the critically ill and the premature infant is thought to result in pathophysiologic changes of the gastrointestinal (GI) tract that may result in the development of NEC. Various methods of preventing or reducing the incidence of NEC in the NICU have been explored. One such method is the enteral administration of simulated amniotic fluid (SAF). This article compares, contrasts, and reviews the available evidence regarding the use of SAF feedings as a means of reducing GI tract changes associated with nothing-by-mouth (NPO) status.
Primary pediatric gastrointestinal lymphoma
Authors: Bandyopadhyay Ranjana , Sinha Swapan Kumar , Chatterjee Uttara , Nag Dipanwita , Mukhopadhyay Subhalakshmi , Chowdhury Supriyo Roy , Biswas Pranab K 
Published: November 2011

Abstract
Background: Primary non-Hodgkin′s lymphoma (NHL) of the gastrointestinal (GI) tract is the most common extranodal lymphoma in pediatric age group. Yet, the overall incidence is very low. The rarity of the disease as well as variable clinical presentation prevents early detection when the possibility of cure exists. Materials and Methods: We studied six cases of primary GI NHL in pediatric age group with reference to their clinical presentation, anatomic distribution and histopathologic characteristics. Results: All were males except one. Intestinal obstruction was the presenting feature in 50%. Half the cases showed ileocaecal involvement, while large bowel was involved in 16%. Histology showed four cases of diffuse large B-cell lymphoma (DLBCL), one case of Burkitt lymphoma, and one Burkitt-like lymphoma. Immunohistochemistry for Tdt, CD20, CD3, CD30, bcl2, bcl6 confirmed the morphological diagnosis. Conclusion: Pediatric GI lymphoma commonly involves the ileocaecal region and presents with intestinal obstruction. A higher prevalence of DLBCL is found compared to other series. A high proliferative index is useful in differentiating Burkitt-like lymphoma from DLBCL.
A rare case of papillary carcinoma of choroids plexus: Its management and review of literature
Authors: Mukesh S , Janaki M G , Ponni Arul , Murali S 
Published: November 2011

AbstractPapillary carcinoma of choroids plexus is very rare. Only a few cases have been described in the literature, and it is most commonly found in the pediatric population. A further observation is added now. A 20-year-old lady presented with complaints of headache and vomiting from past one and half months, headache was increasing in severity and there was relief after vomiting. On examination, no abnormality was detected in any of her systems. The patient underwent computed tomography scan of brain, which showed space occupying lesion in the right frontal lobe. She underwent near total excision of the lesion. Postoperative period was uneventful. Histopathology was suggestive of papillary carcinoma of choroids plexus and was confirmed with immunohistochemistry. The patient received whole brain radiation and intrathecal chemotherapy. The patient tolerated the treatment well, except for grade two vomiting. She has completed one and half years of follow-up and is disease free.
Detection of fetomaternal hemorrhage
Authors: Kim Yeowon A. , Makar Robert S. 
Published: November 2011

AbstractThe prevention of Rhesus D alloimmunization through Rh immune globulin (RhIg) administration is the major indication for the accurate detection and quantification of fetomaternal hemorrhage (FMH). In the setting of D incompatibility, D‐positive fetal cells can sensitize the D‐negative mother, resulting in maternal anti‐D alloantibody production. These anti‐D alloantibodies may lead to undesirable sequelae such as hemolytic disease of the newborn (HDN). Since the widespread adoption of FMH screening and RhIg immunoprophylaxis, the overall risk of Rh alloimmunization and infant mortality from HDN has substantially decreased. The rosette screen, the initial test of choice, is highly sensitive in qualitatively detecting 10 mL of fetal whole blood in the maternal circulation. As the screen is reliant on the presence of the D antigen to distinguish fetal from maternal cells, it cannot be used to detect FMH in D‐positive mothers or in D‐negative mothers carrying a D‐negative fetus. The Kleihauer‐Betke acid‐elution test, the most widely used confirmatory test for quantifying FMH, relies on the principle that fetal RBCs contain mostly fetal hemoglobin (HbF), which is resistant to acid‐elution whereas adult hemoglobin is acid‐sensitive. Although the Kleihauer‐Betke test is inexpensive and requires no special equipment, it lacks standardization and precision, and may not be accurate in conditions with elevated F‐cells. Anti‐HbF flow cytometry is a promising alternative, although its use is limited by equipment and staffing costs. Hematology analyzers with flow cytometry capabilities may be adapted for fetal cell detection, thus giving clinical laboratories a potentially attractive automated alternative for quantifying FMH. Am. J. Hematol., 2012. © 2011 Wiley Periodicals, Inc.
Otto Stern (1888–1969): The founding father of experimental atomic physics
Authors: Toennies J.P. , Schmidt‐Böcking H. , Friedrich B. , Lower J.C.A. 
Published: November 2011

AbstractWe review the work and life of Otto Stern who developed the molecular beam technique and with its aid laid the foundations of experimental atomic physics. Among the key results of his research are: the experimental test of the Maxwell‐Boltzmann distribution of molecular velocities (1920), experimental demonstration of space quantization of angular momentum (1922), diffraction of matter waves comprised of atoms and molecules by crystals (1931) and the determination of the magnetic dipole moments of the proton and deuteron (1933).
Epoxyquinone Formation Catalyzed by a Two‐Component Flavin‐Dependent Monooxygenase Involved in Biosynthesis of the Antibiotic Actinorhodin
Authors: Taguchi Takaaki , Okamoto Susumu , Hasegawa Kimiko , Ichinose Koji 
Published: November 2011

AbstractThe biosynthetic gene cluster of the aromatic polyketide antibiotic actinorhodin (ACT) in Streptomyces coelicolor A3(2) carries a pair of genes, actVA‐ORF5 and actVB, that encode a two‐component flavin‐dependent monooxygenase (FMO). Our previous studies have demonstrated that the ActVA‐ORF5/ActVB system functions as a quinone‐forming C‐6 oxygenase in ACT biosynthesis. Furthermore, we found that this enzyme system exhibits an additional oxygenation activity with dihydrokalafungin (DHK), a proposed intermediate in the ACT biosynthetic pathway, and generates two reaction products. These compounds were revealed to be monooxygenated derivatives of kalafungin, which is spontaneously formed through oxidative lactonization of DHK. Their absolute structures were elucidated from their NMR spectroscopic data and by computer modeling and X‐ray crystallography as (5S,14R)‐epoxykalafungin and (5R,14S)‐epoxykalafungin, demonstrating an additional epoxyquinone‐forming activity of the ActVA‐ORF5/ActVB system in vitro.
Cardiac decellularisation with long‐term storage and repopulation with canine peripheral blood progenitor cells
Authors: Crawford Bredon , Koshy Sandeep Tharian , Jhamb Geeta , Woodford Curtis , Thompson Chistine M. , Levy Andrew S. , Rush Jim W. E. , Guillemette J. Guy , Lillicrap David , Jervis Eric 
Published: November 2011

AbstractPerfusion decellularisation is a promising technique in scaffold production for tissue engineering. The similarity of decellularised extracellular matrix to native matrix is attractive for the development of compatible and functional constructs for therapeutic applications. Here, whole organs were processed for tissue culture with an emphasis on production staging. Adult rat hearts were perfusion‐decellularised on a modified chromatography system that facilitated the study of flow properties and effluent material to better understand the transport processes of decellularisation. Tracer pulse experiments confirmed gross integrity of the ECM, and suggested the accumulation of debris in tissue lumen at late decellularisation. The rate of protein loss matched visual indications of decellularisation, slowing to zero as the tissue achieved a uniform appearance. Decellularised hearts were cryopreserved for up to 1 year before reconditioning including disinfection and soluble protein perfusion to remove adsorbed detergents. Canine blood outgrowth endothelial cells were seeded and cultured in a novel recellularisation apparatus with bubble‐free aeration. After 9 days of culture, cells seeded in the lumen remained viable and exhibited well‐attached morphology. This work presents approaches for the process analysis and non‐destructive evaluation of decellularising tissue and demonstrates that cells may be successfully cultured on whole decellularised organs following long‐term storage. © 2011 Canadian Society for Chemical Engineering
Accuracy of positron emission tomography/computed tomography and clinical assessment in the detection of complete rectal tumor regression after neoadjuvant chemoradiation
Authors: Perez Rodrigo Oliva , Habr‐Gama Angelita , Gama‐Rodrigues Joaquim , Proscurshim Igor , Julião Guilherme Pagin São , Lynn Patricio , Ono Carla Rachel , Campos Fabio Guilherme , Silva e Sousa Afonso Henrique , Imperiale Antonio Rocco , Nahas Sergio Carlos , Buchpiguel Carlos Alberto 
Published: November 2011

AbstractBACKGROUND:Neoadjuvant chemoradiation (CRT) therapy may result in significant tumor regression in patients with rectal cancer. Patients who develop complete tumor regression have been managed by treatment strategies that are alternatives to standard total mesorectal excision. Therefore, assessment of tumor response with positron emission tomography/computed tomography (PET/CT) after neoadjuvant treatment may offer relevant information for the selection of patients to receive alternative treatment strategies.METHODS:Patients with clinical T2 (cT2) through cT4NxM0 rectal adenocarcinoma were included prospectively. Neoadjuvant therapy consisted of 54 grays of radiation and 5‐fluorouracil‐based chemotherapy. Baseline PET/CT studies were obtained before CRT followed by PET/CT studies at 6 weeks and 12 weeks after the completion of CRT. Clinical assessment was performed at 12 weeks after CRT completion. PET/CT results were compared with clinical and pathologic data.RESULTS:In total, 99 patients were included in the study. Twenty‐three patients were complete responders (16 had a complete clinical response, and 7 had a complete pathologic response). The PET/CT response evaluation at 12 weeks indicated that 18 patients had a complete response, and 81 patients had an incomplete response. There were 5 false‐negative and 10 false‐positive PET/CT results. PET/CT for the detection of residual cancer had 93% sensitivity, 53% specificity, a 73% negative predictive value, an 87% positive predictive value, and 85% accuracy. Clinical assessment alone resulted in an accuracy of 91%. PET/CT information may have detected misdiagnoses made by clinical assessment alone, improving overall accuracy to 96%.CONCLUSIONS:Assessment of tumor response at 12 weeks after CRT completion with PET/CT imaging may provide a useful additional tool with good overall accuracy for the selection of patients who may avoid unnecessary radical resection after achieving a complete clinical response. Cancer 2012;3501–3511. © 2011 American Cancer Society.