bluuebunny/crossref_metadata_2025 huggingface dataset:
PET/CT aids the staging of and radiotherapy planning for early-stage extranodal natural killer/T-cell lymphoma, nasal type: A case series
Authors: MacDonald Shannon L , Mulroy Liam , Wilke Derek R , Burrell Steven
Published: December 2011

Extranodal natural killer/T-cell lymphoma (ENKTL), nasal type, is a rare form of non-Hodgkin lymphoma. Treatment of ENKTL primarily relies on radiation; thus, proper delineation of target volumes is critical. Currently, the ideal modalities for delineation of gross tumor volume for ENKTL are unknown. We describe three consecutive cases of localized ENKTL that presented to the Nova Scotia Cancer Centre in Halifax, Nova Scotia. All patients had a planning CT and MRI as well as a planning FDG-PET/CT in the radiotherapy treatment position, wearing immobilization masks. All patients received radiation alone. In two patients, PET/CT changed not only the stage, but also the target volume requiring treatment. The third patient was unable to tolerate an MRI, but was able to undergo PET/CT, which improved the accuracy of the target volume. PET/CT aided the staging of and radiotherapy planning for our patients and appears to be a promising tool in the treatment of ENKTL.
Differential Insulin Receptor Substrate-1 (IRS1)-Related Modulation of Neuropeptide Y and Proopiomelanocortin Expression in Nondiabetic and Diabetic IRS2−/− Mice
Authors: Burgos-Ramos Emma , González-Rodríguez Águeda , Canelles Sandra , Baquedano Eva , Frago Laura M. , Revuelta-Cervantes Jesús , Gómez-Ambrosi Javier , Frühbeck Gema , Chowen Julie A. , Argente Jesús , Valverde Ángela M. , Barrios Vicente
Published: December 2011

Insulin resistance and type 2 diabetes correlate with impaired leptin and insulin signaling. Insulin receptor substrate-2 deficient (IRS2−/−) mice are an accepted model for the exploration of alterations in these signaling pathways and their relationship with diabetes; however, disturbances in hypothalamic signaling and the effect on neuropeptides controlling food intake remain unclear. Our aim was to analyze how leptin and insulin signaling may differentially affect the expression of hypothalamic neuropeptides regulating food intake and hypothalamic inflammation in diabetic (D) and nondiabetic (ND) IRS2−/− mice. We analyzed the activation of leptin and insulin targets by Western blotting and their association by immunoprecipitation, as well as the mRNA levels of neuropeptide Y (NPY), proopiomelanocortin, and inflammatory markers by real-time PCR and colocalization of forkhead box protein O1 (FOXO1) and NPY by double immunohistochemistry in the hypothalamus. Serum leptin and insulin levels and hypothalamic Janus kinase 2 and signal transducer and activator of transcription factor 3 activation were increased in ND IRS2−/− mice. IRS1 levels and its association with Janus kinase 2 and p85 and protein kinase B activation were increased in ND IRS2−/−. Increased FOXO1 positively correlated with NPY mRNA levels in D IRS2−/− mice, with FOXO1 showing mainly nuclear localization in D IRS2−/− and cytoplasmic in ND IRS2−/− mice. D IRS2−/− mice exhibited higher hypothalamic inflammation markers than ND IRS2−/− mice. In conclusion, differential activation of these pathways and changes in the expression of NPY and inflammation may exert a protective effect against hypothalamic deregulation of appetite, suggesting that manipulation of these targets could be of interest in the treatment of insulin resistance and type 2 diabetes.
c-myc and skp2 Coordinate p27 Degradation, Vascular Smooth Muscle Proliferation, and Neointima Formation Induced by the Parathyroid Hormone-Related Protein
Authors: Sicari Brian M. , Troxell Ronnie , Salim Fatimah , Tanwir Mansoor , Takane Karen K. , Fiaschi-Taesch Nathalie
Published: December 2011

Parathyroid hormone-related protein (PTHrP) contains a classical bipartite nuclear localization signal. Nuclear PTHrP induces proliferation of arterial vascular smooth muscle cells (VSMC). In the arterial wall, PTHrP is markedly up-regulated in response to angioplasty and promotes arterial restenosis. PTHrP overexpression exacerbates arterial restenosis, and knockout of the PTHrP gene results in decreased VSMC proliferation in vivo. In arterial VSMC, expression of the cell cycle inhibitor, p27, rapidly decreases after angioplasty, and replacement of p27 markedly reduces neointima development. We have shown that PTHrP overexpression in VSMC leads to p27 down-regulation, mostly through increased proteosomal degradation. Here, we determined the molecular mechanisms through which PTHrP targets p27 for degradation. S-phase kinase-associated protein 2 (skp2) and c-myc, two critical regulators of p27 expression and stability, and neointima formation were up-regulated in PTHrP overexpression in VSMC. Normalization of skp2 or c-myc using small interfering RNA restores normal cell cycle and p27 expression in PTHrP overexpression in VSMC. These data indicate that skp2 and c-myc mediate p27 loss and proliferation induced by PTHrP. c-myc promoter activity was increased, and c-myc target genes involved in p27 stability were up-regulated in PTHrP overexpression in VSMC. In primary VSMC, PTHrP overexpression led to increased c-myc and decreased p27. Conversely, knockdown of PTHrP in primary VSMC from PTHrPflox/flox mice led to cell cycle arrest, p27 up-regulation, with c-myc and skp2 down-regulation. Collectively, these data describe for the first time the role of PTHrP in the regulation of skp2 and c-myc in VSMC. This novel PTHrP-c-myc-skp2 pathway is a potential target for therapeutic manipulation of the arterial response to injury.
Ghrelin Interacts with Neuropeptide Y Y1 and Opioid Receptors to Increase Food Reward
Authors: Skibicka Karolina P. , Shirazi Rozita H. , Hansson Caroline , Dickson Suzanne L.
Published: December 2011

Ghrelin, a stomach-derived hormone, is an orexigenic peptide that was recently shown to potently increase food reward behavior. The neurochemical circuitry that links ghrelin to the mesolimbic system and food reward behavior remains unclear. Here we examined the contribution of neuropeptide Y (NPY) and opioids to ghrelin's effects on food motivation and intake. Both systems have well-established links to the mesolimbic ventral tegmental area (VTA) and reward/motivation control. NPY mediates the effect of ghrelin on food intake via activation of NPY-Y1 receptor (NPY-Y1R); their connection with respect to motivated behavior is unexplored. The role of opioids in any aspect of ghrelin's action on food-oriented behaviors is unknown. Rats were trained in a progressive ratio sucrose-induced operant schedule to measure food reward/motivation behavior. Chow intake was measured immediately after the operant test. In separate experiments, we explored the suppressive effects of a selective NPY-Y1R antagonist or opioid receptor antagonist naltrexone, injected either intracerebroventricularly or intra-VTA, on ghrelin-induced food reward behavior. The ventricular ghrelin-induced increase in sucrose-motivated behavior and chow intake were completely blocked by intracerebroventricular pretreatment with either an NPY-Y1R antagonist or naltrexone. The intra-VTA ghrelin-induced sucrose-motivated behavior was blocked only by intra-VTA naltrexone. In contrast, the intra-VTA ghrelin-stimulated chow intake was attenuated only by intra-VTA NPY-Y1 blockade. Finally, ghrelin infusion was associated with an elevated VTA μ-opioid receptor expression. Thus, we identify central NPY and opioid signaling as the necessary mediators of food intake and reward effects of ghrelin and localize these interactions to the mesolimbic VTA.
Virus Capsid Coating of Gold Nanoparticles via Cysteine–Au Interactions and Their Effective Cellular Uptakes
Authors: Nagakawa Keita , Niikura Kenichi , Suzuki Tadaki , Matsuo Yasutaka , Igarashi Manabu , Sawa Hirofumi , Ijiro Kuniharu
Published: January 2012

This manuscript describes the synthesis of virus capsid protein-coated Au nanoparticle (VP–AuNP) without the use of the inherent self-assembly of virus proteins into virus particles. Covalent binding between Au and cysteines in the virus proteins keep the cell-surface binding sites on the external surface. Based on this method, various sizes of VP–AuNP can be created in a similar manner to native virus particles. We clarified the optimum size of the VP–AuNP for internalization into cells.
New Organic Ferroelectrics: Cocrystal of 5,5′-Dimethyl-2,2′-bipyridine and Bromanilic Acid
Authors: Yamamura Yasuhisa , Saito Erika , Saitoh Hideki , Hoshino Norie , Saito Kazuya
Published: January 2012

Cocrystal 55DMBP–H2ba was synthesized and characterized. The crystal structure is isostructural to cocrystal 55DMBP–H2ia with iodanilic acid. The heat capacity, dielectric permittivity, and polarization–electric field hysteresis showed that the 55DMBP–H2ba undergoes a paraelectric–ferroelectic phase transition at 253 K on cooling. The transition mechanism is discussed through the analysis of isotropic temperature factors of atoms.
The First Total Synthesis of Gravicycle
Authors: Ueda Katsuaki , Sato Itaru , Hirama Masahiro
Published: January 2012

The total synthesis of gravicycle, isolated from Grevillea robusta, has been achieved for the first time. The key step of our synthetic process is the efficient assembly of a highly functionalized biaryl ether via the copper-catalyzed O-arylation of suitably protected pyrogallol-5-carboxylate, using triarylbismuth(V) diacetate.
Operative fixation for complex tibial fractures
Authors: Hutchinson AJP , Frampton AE , Bhattacharya R
Published: December 2011

INTRODUCTION

The management of open tibial shaft fractures remains challenging. Intramedullary nailing and external fixation are the most commonly used fixation techniques although the optimal fixation technique remains unresolved. In this article the outcomes of these two surgical techniques are compared.

METHODS

A comprehensive literature search was conducted through MEDLINE® using Ovid® and MeSH (Medical Subject Heading) terms for articles published in the English literature between 1999 and 2009. The outcome measures compared were time to fracture union, infection rates and complications.

RESULTS

Forty-one studies were identified, of which only three met the inclusion criteria. The average time to union was variable. Delayed union and non-union appeared to be more prevalent in the external fixator group although this was not statistically significant. Both techniques were associated with secondary procedures as well as infection.

CONCLUSIONS

The current literature indicates little evidence to suggest the superiority of one fixation technique over another for open tibial fractures.
Computed tomography findings of bowel wall thickening: its significance and relationship to endoscopic abnormalities
Authors: Uzzaman MM , Alam A , Nair MS , Borgstein R , Meleagros L
Published: December 2011

INTRODUCTION

The aim of this study was to conduct retrospective analysis of abdominopelvic computed tomography (CT) reports, identifying those patients in whom bowel wall thickening (BWT) was observed, and to correlate these reports with subsequent endoscopic evaluation.

METHODS

Formal reports for all patients undergoing abdominopelvic CT between February 2007 and September 2009 were reviewed. Where patients were identified as having colorectal ‘wall thickening’, results of subsequent endoscopic evaluations were documented. Only those patients with a report of BWT who had follow-up endoscopy (colonoscopy, sigmoidoscopy) were included in the analysis.

RESULTS

A total of 165 patients were included. Abnormalities on endoscopy at the exact site of the BWT on CT were found in 95 patients (57.58%); in 36 cases (21.82%) this was a malignant lesion. BWT of the transverse colon was significantly more likely to correspond to an endoscopic finding of cancer than other sites (p=0.034). Rectal bleeding was reported significantly more often in patients with BWT and neoplastic disease on endoscopy compared with those with normal endoscopy (p=0.04). Excluding patients with inflammatory/diverticular lesions, 59.02% of Caucasians had a neoplastic lesion at the site of reported BWT, significantly higher than the other ethnic groups (p=0.008). There were 38 patients (23.03%) who did not present with bowel symptoms and, of these, 6 were diagnosed subsequently with colorectal cancer.

CONCLUSIONS

This study supports endoscopic evaluation to investigate patients with CT evidence of BWT, especially in cases involving the transverse colon, in Caucasian patients or in association with symptoms of rectal bleeding.
Paediatric admissions to the British military hospital at Camp Bastion, Afghanistan
Authors: Arul GS , Reynolds J , DiRusso S , Scott A , Bree S , Templeton P , Midwinter MJ
Published: December 2011

INTRODUCTION

International humanitarian law requires emergency medical support for both military personnel and civilians, including children. Here we present a detailed review of paediatric admissions with the pattern of injury and the resources they consume.

METHODS

All paediatric admissions to the hospital at Camp Bastion between 1 January and 29 April 2011 were analysed prospectively. Data collected included time and date of admission, patient age and weight, mechanism of injury, extent of wounding, treatment, length of hospital stay and discharge destination.

RESULTS

Eighty-five children (65 boys and 17 girls, median age: 8 years, median weight: 20kg) were admitted. In 63% of cases the indication for admission was battle related trauma and in 31% non-battle trauma. Of the blast injuries, 51% were due to improvised explosive devices. Non-battle emergencies were mainly due to domestic burns (46%) and road traffic accidents (29%). The most affected anatomical area was the extremities (44% of injuries). Over 30% of patients had critical injuries. Operative intervention was required in 74% of cases. The median time to theatre for all patients was 52 minutes; 3 patients with critical injuries went straight to theatre in a median of 7 minutes. A blood transfusion was required in 27 patients; 6 patients needed a massive transfusion. Computed tomography was performed on 62% of all trauma admissions and 40% of patients went to the intensive care unit. The mean length of stay was 2 days (range: 1–26 days) and there were 7 deaths.

CONCLUSIONS

Paediatric admissions make up a small but significant part of admissions to the hospital at Camp Bastion. The proportion of serious injuries is very high in comparison with admissions to a UK paediatric emergency department. The concentration of major injuries means that lessons learnt in terms of teamwork, the speed of transfer to theatre and massive transfusion protocols could be applied to UK paediatric practice.
A case of a giant cystic lymphangioma mimicking acute appendicitis
Authors: Eisawi A , Otter M , Asha M , Al-Temimi A
Published: December 2011

Cystic lymphangiomas are rare tumours that can mimic various causes of acute abdomen including appendicitis. They exhibit variations in two characteristics on presentation: they can arise from a wide range of organs including various intra-abdominal structures and they can have a wide variation in size on presentation. We report a case of a gigantic cystic lymphangioma presenting as an acute abdomen closely mimicking acute appendicitis and we conduct a review of the relevant literature.
Congenital diaphragmatic hernia: an unusual cause of obstructive jaundice
Authors: Jones HG , Kadhim A , Nutt M
Published: December 2011

Congenital diaphragmatic hernias in adults are exceedingly rare. They have been reported to cause dyspnoea, gastric reflux and intestinal obstruction. We present the case of a young woman with obstructive jaundice secondary to a Bochdalek hernia of the right hemidiaphragm. We discuss the aetiologies, presentation, investigation and treatment of the disorder, and make recommendations on the management.
Topical negative pressure for the treatment of neonatal post-sternotomy wound dehiscence
Authors: Hardwicke J , Richards H , Jagadeesan J , Jones T , Lester R
Published: December 2011

The use of topical negative pressure (TNP) dressings for sternal wound dehiscence or mediastinitis in the neonatal population is rare. The majority of case reports have focused on wound healing as an endpoint and have not discussed the physiological advantage that TNP dressings may impart with regard to sternal stabilisation, improved respiratory function and early weaning from mechanical ventilation. We present a case of the use of TNP in neonatal post-sternotomy wound dehiscence and mediastinitis, from a UK perspective, with an emphasis on wound healing and physiological optimisation.

As well as an improvement in sternal wound healing due to the local effects of the TNP system, serial arterial blood gas analysis revealed a significant improvement in systemic physiological parameters, including a reduction in pCO2 in the period (days 20–31) after application of TNP (p<0.0001) compared to the period before where simple occlusive dressings were applied. Hydrogen ion concentration also significantly reduced in this period (p=0.0058). The use of the TNP system in association with systemic antibiotics successfully treated the mediastinitis. A sealed, controlled wound environment also allowed ease of nursing and an expedited return to care by the parents. We would recommend the consideration of TNP dressings in similar cases of neonatal and paediatric sternal wound dehiscence. Not only do we observe the local effects of improved wound healing, the systemic effects of improved lung function are also valuable in the early management of such complex cases.
Massive spontaneous diaphragmatic rupture in Ehlers–Danlos syndrome
Authors: Hamaoui K , Riaz A , Hay A , Botha A
Published: December 2011

Ehlers–Danlos syndrome (EDS) is a rare disorder caused by abnormalities in the synthesis and structure of collagen. The resultant tissue fragility and weakness can lead to multiple surgical conditions. In this report we present the very rare and life threatening case of a massive spontaneous diaphragmatic rupture in a 35-year-old man with EDS and reflect on the literature, highlighting points to consider when managing such complex patients.
A tricky tracheotomy: airway management dilemma following unusual stab injury to the mouth
Authors: Mepani VN , Antscherl J
Published: December 2011

Traumatic wounding to the upper aerodigestive tract can cause acute airway compromise. In these circumstances establishment of a safe airway is vital. We present a case report illustrating the decision making pathway in such a difficult case.
Penile actinomycosis clinically diagnosed as an epidermal cyst: a case report
Authors: Min Kyueng-Whan , Park Sung Yul , Paik Seung Sam
Published: December 2011

A 27-year-old man presented at our hospital with a 1.5cm, spherical, soft and movable subcutaneous mass at the mid portion of the ventral aspect of the penile shaft. The possibility of an epidermal cyst was considered and a simple resection was performed. Histologically, the lesion was a unilocular cyst without an epithelial lining, containing eosinophilic necrotic material and a few dispersed scalloped sheets of actinomycotic granules. The centre of the largest granular body demonstrated many fragments of foreign substance. The patient was treated successfully with combined antibiotic therapy.
Spontaneous diaphragmatic rupture related to local invasion by retroperitoneal liposarcoma
Authors: Pehar M , Vukoja I , Rozić D , Mišković J
Published: December 2011

We report a case of the female patient who was admitted to the hospital because of syncope experienced while climbing stairs. Diagnostic workup raised the suspicion of a right diaphragmatic rupture that was eventually confirmed by surgery (right-sided thoracotomy). Surgery also revealed tissue protruding through the rupture site from within the retroperitoneum that was proven subsequently to be a dedifferentiated liposarcoma. Second surgery was performed to completely remove the liposarcoma tissue and repair a coincident old right lumbar region hernia. The patient recovered fully.

Spontaneous rupture of the diaphragm is rare and this is especially true for the right hemidiaphragm. We report the first case of diaphragmatic rupture caused by local infiltration by a retroperitoneal liposarcoma. This and similar reports emphasise that in cases with high clinical suspicion of diaphragmatic rupture, diagnosis should be pursued even in the absence of a preceding traumatic event.
Leiomyosarcoma of the rectum following pelvic irradiation: a difficult histological diagnosis
Authors: Basu I , Lemonas P
Published: December 2011

Rectal leiomyosarcomas are very rare mesenchymal tumours. This is a case report of a rectal leiomyosarcoma diagnosed initially as a leiomyoma in a patient who had undergone pelvic radiotherapy several years previously. In addition to its pathological rarity, this case is of particular interest because it reinforces the association between pelvic irradiation and rectal leiomyosar-comas and it highlights the importance of treating suspicious cases aggressively in spite of favourable preoperative radiological and histological assessment.
Use of internal iliac artery as a side-to-end anastomosis in renal transplantation
Authors: Mohamed IH , Bagul A , Doughman T , Nicholson ML
Published: December 2011

The internal iliac artery is less commonly used in renal transplantation in comparison to the external iliac artery due to its size and the risk of compromising distal vascular supply to the pelvis. We report a cadaveric renal transplant in which we performed a side-to-end anastomosis using the internal iliac artery. This technique can provide adequate perfusion to the transplant kidney without the associated risks and complications in the patient whose internal iliac artery is of a good diameter and quality.
Post-coital haemoperitoneum: a downside to intercourse
Authors: Toquero L , Gadd R , Owers CE , Simms JM
Published: December 2011

We present the case of a 43-year-old multiparous female patient presenting with post-coital haemoperitoneum secondary to a ruptured uterine fibroid. This is a rare case demonstrating the need to elicit full gynaecological history in patients presenting with an acute abdomen.
A case of odontogenic brain abscess arising from covert dental sepsis
Authors: Clifton TC , Kalamchi S
Published: December 2011

Odontogenic infections can spread to any organ of the body and in some cases cause life threatening infections. We report a case of multiple odontogenic brain abscesses resulting from undetected tooth decay. Whereas most odontogenic brain abscesses occur following dental treatment, this report documents brain abscesses prior to dental treatment, signifying the dangers of covert dental infections. This case report updates the literature on the topic of odontogenic brain abscesses.
Entonox® inhalation to reduce pain in common diagnostic and therapeutic outpatient urological procedures: a review of the evidence
Authors: Young A , Ismail M , Papatsoris AG , Barua JM , Calleary JG , Masood J
Published: December 2011

INTRODUCTION

Entonox® (50% nitrous oxide and 50% oxygen; BOC Healthcare, Manchester, UK) is an analgesic and anxiolytic agent that is used to successfully reduce pain and anxiety during dental, paediatric and emergency department procedures. In this article we review the application and efficacy of Entonox® in painful local anaesthesia urological procedures by performing a systematic review of the literature.

METHODS

A MEDLINE® search was performed using the terms ‘nitrous oxide’, ‘Entonox’, ‘prostate biopsy’, ‘flexible cystoscopy’ and ‘extracorporeal shock wave lithotripsy’. English language publications of randomised studies were identified and reviewed.

RESULTS

The search yielded five randomised studies that investigated the clinical efficacy of Entonox® as an analgesic for day case urological procedures. Three randomised controlled trials (RCTs) investigated Entonox® in transrectal ultrasonography guided prostate biopsy. All three reported significant reductions in pain score in the Entonox® versus control groups. One RCT reported significant reduction in pain during male flexible cystoscopy in the Entonox® group compared with the control group. One RCT, which examined the use of Entonox® during extracorporeal shock wave lithotripsy, found its use significantly decreased the pain score compared with the control group and this was comparable to intravenous pethidine.

CONCLUSIONS

Evidence from varied adult and paediatric procedures has shown Entonox® to be an effective, safe and patient acceptable form of analgesia. All published studies of its use in urological day case procedures have found it to significantly reduce procedural pain. There is huge potential to use this cheap, safe, effective analgesic in our current practice.
The Response to Heat Shock and Oxidative Stress inSaccharomyces cerevisiae
Authors: Morano Kevin A , Grant Chris M , Moye-Rowley W Scott
Published: December 2011

A common need for microbial cells is the ability to respond to potentially toxic environmental insults. Here we review the progress in understanding the response of the yeast Saccharomyces cerevisiae to two important environmental stresses: heat shock and oxidative stress. Both of these stresses are fundamental challenges that microbes of all types will experience. The study of these environmental stress responses in S. cerevisiae has illuminated many of the features now viewed as central to our understanding of eukaryotic cell biology. Transcriptional activation plays an important role in driving the multifaceted reaction to elevated temperature and levels of reactive oxygen species. Advances provided by the development of whole genome analyses have led to an appreciation of the global reorganization of gene expression and its integration between different stress regimens. While the precise nature of the signal eliciting the heat shock response remains elusive, recent progress in the understanding of induction of the oxidative stress response is summarized here. Although these stress conditions represent ancient challenges to S. cerevisiae and other microbes, much remains to be learned about the mechanisms dedicated to dealing with these environmental parameters.
Estimating the Distribution of Selection Coefficients from Phylogenetic Data Using Sitewise Mutation-Selection Models
Authors: Tamuri Asif U , dos Reis Mario , Goldstein Richard A
Published: December 2011

Estimation of the distribution of selection coefficients of mutations is a long-standing issue in molecular evolution. In addition to population-based methods, the distribution can be estimated from DNA sequence data by phylogenetic-based models. Previous models have generally found unimodal distributions where the probability mass is concentrated between mildly deleterious and nearly neutral mutations. Here we use a sitewise mutation–selection phylogenetic model to estimate the distribution of selection coefficients among novel and fixed mutations (substitutions) in a data set of 244 mammalian mitochondrial genomes and a set of 401 PB2 proteins from influenza. We find a bimodal distribution of selection coefficients for novel mutations in both the mitochondrial data set and for the influenza protein evolving in its natural reservoir, birds. Most of the mutations are strongly deleterious with the rest of the probability mass concentrated around mildly deleterious to neutral mutations. The distribution of the coefficients among substitutions is unimodal and symmetrical around nearly neutral substitutions for both data sets at adaptive equilibrium. About 0.5% of the nonsynonymous mutations and 14% of the nonsynonymous substitutions in the mitochondrial proteins are advantageous, with 0.5% and 24% observed for the influenza protein. Following a host shift of influenza from birds to humans, however, we find among novel mutations in PB2 a trimodal distribution with a small mode of advantageous mutations.
Going in the Right Direction: Mating-Type Switching ofSchizosaccharomyces pombeIs Controlled by Judicious Expression of Two Differentswi2Transcripts
Authors: Yu Chuanhe , Bonaduce Michael J , Klar Amar J S
Published: December 2011

Schizosaccharomyces pombe, the fission yeast, cells alternate between P- and M-mating type, controlled by the alternate alleles of the mating-type locus (mat1). The mat1 switching occurs by replacing mat1 with a copy derived from a silenced “donor locus,” mat2P or mat3M. The mechanism of donor choice ensuring that switching occurs primarily and productively to the opposite type, called directionality, is largely unknown. Here we identified the mat1-Mc gene, a mammalian sex-determination gene (SRY) homolog, as the primary gene that dictates directionality in M cells. A previously unrecognized, shorter swi2 mRNA, a truncated form of the swi2, was identified, and its expression requires the mat1-Mc function. We also found that the abp1 gene (human CENPB homolog) controls directionality through swi2 regulation. In addition, we implicated a cis-acting DNA sequence in mat2 utilization. Overall, we showed that switching directionality is controlled by judicious expression of two swi2 transcripts through a cell-type-regulated dual promoter. In this respect, this regulation mechanism resembles that of the Drosophila sex-determination Slx gene.
Ecological Genomics ofAnopheles gambiaeAlong a Latitudinal Cline: A Population-Resequencing Approach
Authors: Cheng Changde , White Bradley J , Kamdem Colince , Mockaitis Keithanne , Costantini Carlo , Hahn Matthew W , Besansky Nora J
Published: December 2011

The association between fitness-related phenotypic traits and an environmental gradient offers one of the best opportunities to study the interplay between natural selection and migration. In cases in which specific genetic variants also show such clinal patterns, it may be possible to uncover the mutations responsible for local adaptation. The malaria vector, Anopheles gambiae, is associated with a latitudinal cline in aridity in Cameroon; a large inversion on chromosome 2L of this mosquito shows large differences in frequency along this cline, with high frequencies of the inverted karyotype present in northern, more arid populations and an almost complete absence of the inverted arrangement in southern populations. Here we use a genome resequencing approach to investigate patterns of population divergence along the cline. By sequencing pools of individuals from both ends of the cline as well as in the center of the cline—where the inversion is present in intermediate frequency—we demonstrate almost complete panmixia across collinear parts of the genome and high levels of differentiation in inverted parts of the genome. Sequencing of separate pools of each inversion arrangement in the center of the cline reveals large amounts of gene flux (i.e., gene conversion and double crossovers) even within inverted regions, especially away from the inversion breakpoints. The interplay between natural selection, migration, and gene flux allows us to identify several candidate genes responsible for the match between inversion frequency and environmental variables. These results, coupled with similar conclusions from studies of clinal variation in Drosophila, point to a number of important biological functions associated with local environmental adaptation.
Further Advances in Neonatal Genetic Testing
Authors: ten Bosch John R. , Manning Melanie A. , Cherry Athena M.
Published: December 2011

Because a significant proportion of critically ill neonates suffer the consequence of a genetic disorder, it is imperative that neonatologists be familiar with the phenotypes associated with the most common disorders and with the laboratory tests that help diagnose them. Currently available clinical tests detect a wide variety of genetic abnormalities ranging from defects in chromosome number to mutations as small as a single nucleotide. Recent advances also allow for comprehensive screening of candidate regions of the genome for pathogenic variants. However, when ordering any genetic laboratory test, the technical and analytical limitations of each assay need to be appreciated, as do other considerations, such as turnaround time and cost.
First Trimester Screening for Fetal Aneuploidy
Authors: Blumenfeld Yair
Published: December 2011

First trimester screening for fetal aneuploidy is now the standard of care for pregnant women residing in the United States and other developed nations. Today screening includes both biochemical and ultrasonographic parameters; however, ongoing research and advances in ultrasound and cell-free fetal DNA make this a rapidly evolving and exciting field. For example, it is conceivable that noninvasive fetal genotyping in the first trimester may one day (not so distantly in the future) be incorporated into routine screening paradigms. This review aims to explore advances in first trimester screening and also discusses several potential future directions.
Prenatal Ultrasound to Detect Fetal Anomalies
Authors: Richards Douglas S.
Published: December 2011

Fetal ultrasound imaging has become an indispensable tool in obstetric practice. In spite of early reports revealing a low sensitivity for diagnosing birth defects, ultrasound has become established as a safe and widely used screening test, best performed at about 20 weeks’ gestation. To maximize effectiveness of ultrasound screening, proper sonographer training and quality assurance is essential. Patients undergoing prenatal ultrasound should be made aware of the limitations of this tool for detecting anomalies. Prenatal detection has several practical benefits, including parental preparation, delivery planning, and optimal pediatric care. Effective noninvasive screening tests for aneuploidies have been developed and are superior to maternal age alone as a method of identifying candidates for invasive testing.
A note on sub-independent random variables and a class of bivariate mixtures
Authors: Hamedani G. , Volkmer Hans , Behboodian J.
Published: January 2012

First, we recall a concept which is called sub-independence. This concept is stronger than that of uncorrelatedness but a lot weaker than independence. The concept of sub-independence, unlike that of uncorrelatedness, does not depend on the existence of any moments. Then, we consider a particular bivariate mixture to construct a pair (X, Y), which is sub-independent but not independent.
Optimal cutoff points for body mass index, waist circumference and HOMA-IR to identify a cluster of cardiometabolic abnormalities in normal glucose-tolerant Brazilian children and adolescents
Authors: Rocco Eloa R. , Mory Denise Barretto , Bergamin Carla Sanchez , Valente Fernando , Miranda Valquíria Lopes , Calegare Bruno Frederico Aguilar , Silva Regina Quirino , Dib Sérgio Atala
Published: January 2012

OBJECTIVE: The aim of this study was to establish the best cutoff values for waist circumference (WC), body mass index (BMI) and HOMA-IR (HR) to identify a cluster (> 3) of cardiovascular risk factors (CVRF) in normal glucose-tolerant (NGT) Brazilian children and adolescents. SUBJECTS AND METHODS: Cross-sectional study of 319 individuals (aged 10 to 19y) from a southern Brazilian city. Gender-specific receiver-operating characteristics (ROC) curves were constructed to assess cutoffs values of BMI (kg/m², WC (cm), and HR. RESULTS: The areas under the ROC curves to detect a cluster of CVRF were 0.92, 0.93 and 0.68 (females), and 0.93, 0.93 and 0.89 (males), for WC, BMI and HR, respectively. The cutoff values were 83.0 and 80.5 cm (WC), 22.7 and 20.4 kg/m2 (BMI), and 1.65 and 1.95 (HR), for females and males, respectively, to detect the cluster of CVRF. CONCLUSION: These values of BMI, WC-) and (HR) detected a high proportion of NGTt Brazilian children and adolescents with a cluster of CVRF.
Morphological abnormalities in mitochondria of the skin of patients with sporadic amyotrophic lateral sclerosis
Authors: Rodríguez Gabriel E. , González Deniselle M. Claudia , Monachelli Gisella M. Gargiulo , Costa Juan J. López , Nicola Alejandro F. de , Sica Roberto E. P.
Published: January 2012

OBJECTIVES: Mitochondrial dysfunction has been reported in the central nervous system, hepatocytes and peripheral blood lymphocytes from patients with sporadic amyotrophic lateral sclerosis (SALS). However, the status of skin mitochondria has not been reported, in spite of the fact that SALS patients present skin abnormalities. The objective of the present study was to compare mitochondrial ultrastructural parameters in keratinocytes from patients with SALS and healthy controls. METHODS: Our study was based on the analysis of 112 skin mitochondria from 5 SALS patients and 99 organelles from 4 control subjects by electron microscopy. RESULTS: Computerized image analysis showed that mitochondrial major axis length, area and perimeter of the organelle were significantly smaller in SALS respect of healthy control subjects. Morphologically, SALS mitochondria presented cristolysis and breakage of the outer membrane. CONCLUSIONS: Mitochondrial dysfunction in the skin may possibly reflect changes occurring in mitochondria of the central nervous system. The analysis of mitochondrial morphology in this tissue may be of value to follow disease progression and, eventually, the effectiveness of current therapies for SALS.
Excesso de peso em adultos do Estado de Pernambuco, Brasil: magnitude e fatores associados
Authors: Pinho Claudia Porto Sabino , Diniz Alcides da Silva , Arruda Ilma Kruze Grande , Lira Pedro Israel Cabral de , Sequeira Leopoldina Augusta de Souza , Gonçalves Fabiana Cristina Lima da Silva Pastich , Batista Filho Malaquias
Published: January 2012

Com o objetivo de avaliar a magnitude do excesso de peso e fatores associados em adultos do Estado de Pernambuco, Brasil, foi realizado estudo transversal, de base populacional, em 2006, envolvendo 1.580 adultos, na faixa etária de 25-59 anos. O excesso de peso foi determinado pelo índice de massa corporal > 25kg/m². O modelo conceitual considerou variáveis socioeconômicas/demográficas, reprodutivas e comportamentais. A prevalência de excesso de peso foi de 51,1% (IC95%: 48,6-53,6). A análise multivariada mostrou que o excesso de peso foi maior a partir de 40 anos (RP = 1,27; IC95%: 1,10-1,46), em mulheres (RP = 1,29; IC95%: 1,16-1,43), em ex-fumantes (RP = 1,42; IC95%: 1,20-1,69), em indivíduos com maior renda (RP = 1,49; IC95%: 1,30-1,71) e em mulheres com primeira gestação com idade < 18 anos (RP = 1,25; IC95%: 1,11-1,66). Não houve associação com o consumo de álcool, com a atividade física e com o consumo alimentar. A expressiva prevalência do excesso de peso corrobora os níveis epidêmicos que este problema tem assumido em todo o mundo e a associação com vários fatores e reforçam a multifatorialidade de sua etiologia.
Percepção de saúde e fatores associados em adultos: inquérito populacional em Rio Branco, Acre, Brasil, 2007-2008
Authors: Bezerra Polyana Caroline de Lima , Opitz Simone Perufo , Koifman Rosalina Jorge , Muniz Pascoal Torres
Published: January 2012

O conceito subjetivo de saúde incluso no processo de autoavaliação de saúde possibilita identificar os fatores que estão associados à percepção de vida saudável das populações. Objetivou-se verificar a autoavaliação de saúde e os fatores associados em Rio Branco, Acre, Brasil, por meio de um estudo transversal de base populacional com amostra composta de 1.516 adultos, entre 2007-2008. A análise multivariada foi realizada por meio de regressão de Poisson, adotando-se, como variável dependente, a percepção regular/ruim do estado de saúde. Diferenças entre gênero, grupo etário, nível de instrução e renda desfavoráveis afetaram negativamente a percepção de saúde dos indivíduos. Após ajuste para idade, sexo e morbidade autorreferida, os riscos estimados para percepção "não boa" de saúde foram maiores para os inativos, obesos e indivíduos com alguma morbidade autorreferida. Os resultados sugerem que as diferenças de condições de vida dos residentes em Rio Branco estão relacionadas com a autoavaliação precária do estado de saúde.
Verdade em tradução: um testemunho da dor das palavras
Authors: Veras Viviane
Published: January 2012

O objetivo da Comissão de Verdade e Reconciliação (CVR), instituída na África do Sul em julho de 1995 e estendendo-se até agosto de 1997, é possibilitar uma reconciliação nacional, evitando o banho de sangue e instaurando a paz civil. Dizer a verdade, a full disclosure, é o que se exige de cada um que pede a anistia. Não se trata, portanto, de uma anistia geral, concedida de forma automática. Uma vez que a comissão sustenta que é possível "fazer coisas com as palavras", busca-se nas narrativas e nos testemunhos de todos os envolvidos uma verdade suficiente para produzir um consenso, o reconhecimento do passado e a assunção dos crimes, em oposição a uma cultura de impunidade. Nesse contexto, minha proposta é pensar a relação entre tradução e testemunho, pensar o intérprete tradutor como testemunha, sublinhando o fato de que a língua da Comissão, o inglês, é uma língua de tradução, não é a língua das vítimas nem dos torturadores.
Development of rice seedlings grown from pre-hydrated seeds and irradiated with gamma rays
Authors: Silva Aline Scheer da , Danielowski Rodrigo , Braga Eugenia Jacira Bolacel , Deuner Sidnei , Magalhães Junior Ariano Martins de , Peters Jose Antonio
Published: January 2012

Techniques used to induce mutations, such as ionizing radiation, are an effective tool in increasing genetic variability in breeding programs of species of economic interest. This study aimed to evaluate the effect of different doses of Co60 gamma radiation on previously soaked seeds on the emergence and early growth of seedlings of two rice cultivars. To do this, seeds (25% moisture) of BRS Querência and BRS Fronteira were irradiated with zero (control), 50, 100, 150 and 200 Gy, and then sown in trays containing soil and kept in a greenhouse. The results showed that gamma radiation affected seedling development, where the highest dose tested (200 Gy) significantly reduced the emergence and the index of emergence speed. Growth parameters were reduced greater reduction in cv. BRS Querência. For antioxidant enzymes, superoxide dismutase expressed little variation for the periods evaluated. Already ascorbate peroxidase and catalase showed a significant increase in horsepower cv. BRS Fronteira at 14 DAS, followed by an increase in both cultivars ascorbate peroxidase activity at 28 DAS. The highest antioxidant capacity observed in cv. BRS Fronteira conferred greater tolerance to stress caused by gamma radiation.
Effects of Curcuma longa extracts on mortality and fecundity of Bactrocera zonata (Diptera: Tephritidae)
Authors: Siddiqi Abdul Rauf , Rafi Athar , Naz Falak , Masih Rafique , Ahmad Iftikhar , Jilani Ghulam
Published: January 2012

The peach fruit fly, Bactrocera zonata, is a significant pest of fruit and vegetable crops in South East Asia and Pacific region. Ccontrol strategies of fruit flies, relying chiefly on insecticides, have serious environmental consequences, disturbing the agro-ecosystem as well as eliminating natural enemies. This study was oriented at exploring the potential of turmeric, Curcuma longa, extracts to control the peach fruit fly. Freshly emerged female adults of Bactrocera zonata were continuously fed for 16 days on diet containing 1000, 500 and 250 ppm of acetone extract of Curcuma longa separately in laboratory cages. The extract caused 85.00, 66.67 and 56.67 percent mortality at 1000, 500 and 250 ppm respectively. The surviving females were mated and allowed to reproduce on clean guava fruits in separate cages. The inhibition in pupal progeny was 67.90, 60.74 and 51.96 percent in the flies fed on 1000, 500 and 250 ppm, the inhibition observed in adult progeny was 84.68, 79.03 and 67.74 percent, respectively.
Seed germination and seedling vigour of italian ryegrass, cocksfoot and timothy following harvest and storage
Authors: Stanisavljevic Rade , Ðjokic Dragoslav , Milenkovic Jasmina , Ðukanovic Lana , Stevovic Vladeta , Simic Aleksandar , Dodig Dejan
Published: January 2012

During post-harvest maturation, different species vary in the length of dormancy breaking or germination increases. Seed dormancy and slow seedling development often limit establishment of forage grass stands. Seed germination and seedling vigour of Italian ryegrass (Lolium italicum A. Braun, Synonym Lolium multiflorum L.), cocksfoot (Dactylis glomerata L.) and timothy (Phleum pretense L.) were observed after harvest and storage. After harvest in June, seeds were stored under standard storage conditions and sampled every 30 days after harvest (DAH), up to 270 DAH, and then every 60 days up to 990 DAH. At each date, seeds were tested for final germination percentage and for seedling vigour traits. Timothy seeds had a maximum germination (88%) and the best seedlings vigour at 90 DAH, which implies that early autumn (September-October) is the best sowing period for freshly harvested seeds of timothy. Timothy seed germination was poor from 270 DAH (73%). The best germination and vigour of Italian ryegrass and cocksfoot seedlings were between 270 and 330 DAH, which equates to spring sowing time (March-April) in the succeeding year. Cocksfoot and Italian ryegrass seeds maintained satisfactory germination levels up to 630 DAH (81%) and 810 DAH (81%), respectively. The data can serve for the determination of a proper storage duration management between harvest and sowing of the tested species under ambient conditions of south-eastern Europe.
Assistência em reabilitação para vítimas de acidentes e violência: a situação dos municípios em Pernambuco, Brasil
Authors: Lima Maria Luiza Lopes Timóteo de , Lima Maria Luiza Carvalho de , Deslandes Suely Ferreira , Souza Edinilsa Ramos de , Barreira Alice Kelly
Published: January 2012

Foi realizada uma análise diagnóstica da assistência em reabilitação para vítimas de acidentes e de violência em municípios de Pernambuco, Brasil, com mais de 100 mil habitantes. O desenho da investigação foi transversal e descritivo. Por contemplar a visão de vários informantes e empregar uma variedade de técnicas de coleta, foram adotados os princípios da triangulação de métodos. Foram investigados sete municípios e 21 Serviços de Reabilitação, com a aplicação de entrevista ao gestor municipal, para mapear e selecionar os serviços a serem analisados, e de questionário aos gerentes dos serviços, para identificação da unidade, caracterização das atividades e descrição da estrutura. Os resultados apontaram que mais da metade dos serviços realizam apenas atendimentos em grupo, prevenção de sequelas e estimulação neuropsicomotora. O quadro profissional dos 21 Serviços é composto por 273 pessoas, o Fisioterapeuta tem maior representatividade (34,8%), seguido do Psicólogo (13,5%) e do Fonoaudiólogo (12,8%). Apenas um município realiza dispensação de órteses, próteses e meios auxiliares para locomoção. Foram observados déficits de oferta de alguns tipos de atendimento e discrepâncias na distribuição geográfica desses serviços, nas diferentes regiões do Estado.