bluuebunny/crossref_metadata_2025 huggingface dataset:
Genome-Wide Gene Expression Analysis of the Switch between Acidogenesis and Solventogenesis in Continuous Cultures of Clostridium acetobutylicum
Authors: Grimmler Christina , Janssen Holger , Krauβe Desireé , Fischer Ralf-Jörg , Bahl Hubert , Dürre Peter , Liebl Wolfgang , Ehrenreich Armin
Published: January 2011

Clostridium acetobutylicum is able to switch from acidogenic growth to solventogenic growth. We used phosphate-limited continuous cultures that established acidogenic growth at pH 5.8 and solventogenic growth at pH 4.5. These cultures allowed a detailed transcriptomic study of the switch from acidogenesis to solventogenesis that is not superimposed by sporulation and other growth phase-dependent parameters. These experiments led to new insights into the physiological role of several genes involved in solvent formation. The adc gene for acetone decarboxylase is upregulated well before the rest of the sol locus during the switch, and pyruvate decarboxylase is induced exclusively for the period of this switch. The aldehyde-alcohol dehydrogenase gene adhE1 located in the sol operon is regulated antagonistically to the paralog adhE2 that is expressed during acidogenic conditions. A similar antagonistic pattern can be seen with the two paralogs of thiolase genes, thlA and thlB. Interestingly, the genes coding for the putative cellulosome in C. acetobutylicum are exclusively transcribed throughout solventogenic growth. The genes for stress response are only induced during the shift but not in the course of solventogenesis when butanol is present in the culture. Finally, the data clearly indicate that solventogenesis is independent from sporulation.
Persistent Sex Disparity in Midlife Stroke Prevalence in the United States
Authors: Towfighi Amytis , Markovic Daniela , Ovbiagele Bruce
Published: January 2011

Background: A recent study found that US women aged 45–54 years in 1999–2004 were twice as likely as men to report previous stroke. The aim of this study was to evaluate the validity of this finding by assessing the sex-specific midlife stroke prevalence in the most recent nationally representative, cross-sectional sample of US individuals. Methods: Sex-specific stroke prevalence, sex-specific vascular risk factor prevalence and sex-specific independent predictors of stroke were assessed among 35- to 64-year olds who participated in the National Health and Nutrition Examination Surveys in 2005–2006 (n = 2,274). Results: Women aged 35–64 years were almost 3 times more likely than men to report prior stroke (2.90 vs. 1.07%; p < 0.001). This disparity was driven by the 45- to 54-year age group, where women had thrice the odds of prior stroke compared with men (OR 3.12, 95% CI 1.30–7.50). Among 45- to 54-year olds, men were more likely than women to have a history of smoking, elevated homocysteine and elevated triglyceride levels, but less likely to be abdominally obese (p < 0.001). Independent stroke risk factors among women aged 35–64 years were a homocysteine level >8.5 µmol/l (OR 6.19, 95% CI 2.57–14.93), a history of myocardial infarction (OR 5.35, 95% CI 1.09–26.27) and diabetes mellitus (OR 6.63, 95% CI 2.47–17.81). Conclusion: The midlife sex disparity in US stroke prevalence persists. Greater emphasis on prompt recognition and treatment of cardiovascular risk factors among young and middle-aged women may ameliorate this worrisome trend.
Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts
Authors: Briggs T.A. , Hubbard M. , Hawkins C. , Cole T. , Livingston J.H. , Crow Y.J. , Pigott A.
Published: January 2011

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a highly pleiotropic disorder, particularly affecting the eye, brain, bone, and gut. The potential catastrophic sequelae of the associated gastrointestinal phenotype, variably characterised by both chronic bleeding and liver failure, is becoming increasingly apparent. Here we report a probable case of CRMCC with pre- and postnatal growth restriction, bilateral exudative retinopathy, a pathognomonic pattern of intracranial calcification, white matter disease, osteopenia with a tendency to fractures, and chronic gastrointestinal bleeding secondary to abnormal dilated vasculature. The gastrointestinal endoscopic findings were characteristic of gastric antral vascular ectasia (GAVE). Treatment with a combination of oral oestrogen and progesterone ameliorated the gastrointestinal blood loss such that monthly blood transfusions could be stopped. The benefit of this relatively benign therapy in managing the potentially life-limiting consequences of an abnormal gastrointestinal vasculature in CRMCC is of great interest.
Motivational Interviewing to Engage Patients in Chronic Kidney Disease Management
Authors: Martino Steve
Published: January 2011

Patients with chronic kidney disease (CKD) must manage numerous medical treatments and lifestyle changes that strain their treatment adherence. An important strategy to improve adherence is to activate the patients’ motivation to manage their CKD. This article describes an approach for enhancing patients’ motivation for change, called motivational interviewing (MI), a treatment that is increasingly being used in health care settings to counsel patients with chronic diseases. Its basic principles, techniques, empirical support, published applications for improving CKD patients’ self-management, and how to learn MI are presented. Research is needed to determine the efficacy and mechanisms of MI for CKD treatment as well as the development of innovative ways to deliver it to patients and train busy health care practitioners in the approach.
What Is Expected of a Medical Director in the Centers for Medicare and Medicaid Services Conditions of Coverage?
Authors: Wish Jay B.
Published: January 2011

The Medicare Conditions for Coverage for dialysis facilities, effective since 2008, make the medical director responsible for all levels of quality patient care in the facility. This includes issues such as water quality, infection control, staff education, policy/procedure development and implementation, dialyzer reuse, involuntary discharges, and patient safety. Most importantly, the medical director is the leader of the team responsible for quality assessment and performance improvement, which is central to the process of continuous quality improvement in the dialysis facility and the basis for much of Medicare’s evaluation of facility performance. Through the measures assessment tool, the Conditions for Coverage specify the required domains for quality improvement activities in the dialysis facility, including dialysis adequacy, nutrition, bone disease, anemia management, vascular access, medical errors, patient satisfaction, and infection control. Under the leadership of the medical director, the quality assessment and performance improvement team identifies opportunities for improvement, tests and implements interventions, collects data, interprets results, and links system change with improved outcomes. These activities are rigorously documented and provide evidence to Medicare that the facility is acting responsibly to provide the best possible services for which it is being paid. The medical director is fairly compensated for his/her services by the facility, but must always act in the patients’ best interest when evaluating policy changes directed at cost containment. The success of a medical director in shepherding positive change in a dialysis facility can be immensely satisfying as it impacts on patients other than his/her own.
Magnesium in Chronic Kidney Disease: Unanswered Questions
Authors: Spiegel David M.
Published: January 2011

Background: Magnesium ion is critical for life and is integrally involved in cellular function and a key component of normal bone mineral. In health, the kidneys, gastrointestinal tract and bone are responsible for maintaining serum magnesium concentrations in the normal range and magnesium balance. Most clinical disorders involving magnesium, other than chronic kidney disease (CKD), result in hypomagnesemia, either from gastrointestinal or kidney losses. CKD and particularly end-stage kidney disease is the only clinical condition where sustained hypermagnesemia may occur and net magnesium balance may be positive. Methods: This review will focus on normal magnesium homeostasis and review the literature in CKD with a particular focus on end-stage kidney disease and the potential role of magnesium as a phosphate binder and in cardiovascular and bone health. Results: A number of small to medium-size interventional trials have shown that magnesium-based compounds can serve as effective phosphate binders. Observational studies suggest that higher serum magnesium concentrations in dialysis patients may improve survival and may slow the progression of vascular calcification. While a few small prospective trials support these findings, no large or long-term studies are available. Conclusions: Magnesium balance remains poorly understood in patients with end-stage kidney disease. While observational and small randomized trials suggest that exogenous administration may be useful as a phosphate binder and may have protective cardiovascular effects in terms of both arrhythmias and vascular calcification, large randomized trials are needed to test these hypotheses.
Why Assistive Technology Is Needed for Probing of Dry Weight
Authors: Sinha Arjun D.
Published: January 2011

Despite advancements in dialysis therapy, the subjective clinical examination still remains the standard of care in managing volume removal in chronic dialysis. While there is no definitive trial establishing that dry weight management guided by an assistive technology is superior to the clinical method, there is ample evidence that there is a need for these technologies to be developed. Mortality, cardiovascular morbidity, and sequelae of volume overload remain far too common under the current paradigm. Recent studies indicate that the mortality associated with volume overload is independent of hypertension, suggesting that if mortality is to be improved, then a measure of volume independent of blood pressure must be developed. Even when considered as an integrated whole, the clinical method is inaccurate at setting dry weight when compared to the use of assistive technologies. A recent secondary analysis of a randomized trial showed that relative plasma volume (RPV) slope is responsive to change in volume status and may be useful in guiding therapy for hypertension. The only large randomized trial to investigate the ability of an assistive technology to manage volume removal in hemodialysis patients is the Crit-Line Intradialytic Monitoring Benefit Study, which found harm associated with RPV monitoring. However, the design of this trial did not require the RPV group to actually receive this intervention. Assistive technologies offer an opportunity to improve on the subjective clinical exam for the setting of dry weight, but well designed and adequately powered clinical trials are needed.
Sodium: A Wolf in Sheep’s Clothing
Authors: Oberleithner Hans , de Wardener Hugh E.
Published: January 2011

High blood pressure is the main cause of disease-related morbidity and mortality worldwide. It is virtually absent in populations that consume natural foods low in sodium. In other countries, however, where the individual intake of sodium is at least 10 times greater, the prevalence of arterial hypertension is about 40%. Vascular endothelium plays a central role in blood pressure regulation. In addition to the kidney, the vasculature is a major target for aldosterone where it controls nonexcitable sodium channels in the endothelium. High sodium channel expression/activity downregulates the release of nitric oxide (NO), and thus determines endothelial function. Mechanical cell stiffness is therefore the means whereby high sodium channel activity reduces NO release. We have found that small changes of plasma sodium, but only above 139 mM, and potassium above 4 mM regulate the stiffness of the submembrane actin web and thus control the shear stress-dependent activity of endothelial NO synthase, which lies directly beneath the cell membrane. Plasma sodium above 139 mM stiffens the actin web of the endothelial cell, and plasma potassium greater than 4 mM does the opposite. In conclusion, vascular endothelial cells are highly sensitive to changes in extracellular sodium and potassium but only within and above the normal range. This sensitivity may serve as a physiological feedback mechanism to regulate local blood flow. It becomes pathogenic, however, when the concentration of plasma sodium or potassium changes towards and beyond the upper limits of the normal range.
Development of a Peritoneal Dialysis Program
Authors: Finkelstein Fredric O. , Ezekiel Ojo Olalekan , Raducu Radu
Published: January 2011

The development of a successful peritoneal dialysis program requires that the organization and structure of the program be carefully planned. Key ingredients include developing a robust chronic kidney disease education program, adequate training for physicians and nurses, full complement of supporting staff (including nurses, dietician, and social worker), appropriate continuous quality improvement programs, and a reasonable program size.
Potential Effects of the New Medicare Prospective Payment System on Drug Prescription in End-Stage Renal Disease Care
Authors: Winkelmayer Wolfgang C.
Published: January 2011

The Centers for Medicaid and Medicare Services have announced a new Prospective Payment System to reimburse the care furnished by dialysis centers to patients with end-stage renal disease (ESRD). As of January 2011, most aspects of the outpatient treatment of patients with ESRD will be included in a single payment. In addition to the items previously included in the Composite Rate, injectable drugs and their oral equivalents will be included in this new capitation payment, as will the laboratory tests required for monitoring maintenance dialysis. As of January 2014, oral-only medications will also be included. Physician payments and payments for inpatient care, as well as for care not directly related to ESRD care will continue to be reimbursed separately. Patterns of medication treatment of ESRD patients will likely be revisited, and one can expect pronounced adjustments. Treatment of anemia will likely shift towards less use of erythropoiesis-stimulating agents and somewhat towards higher use of intravenous iron supplements. Average hemoglobin concentrations will decline. Use of intravenous vitamin D analogues will likely be reduced and substituted with their oral equivalents in many patients. One can also expect a temporary trend towards higher use of calcimetics, since their inclusion in the payment bundle is deferred until 2014. Treatment of problems with vascular access patency and of access infections will likely shift to the inpatient setting, and there may be reluctance to quickly accept recovering patients back to the outpatient setting after vascular access intervention. On aggregate, these changes have the potential to alter patient outcomes, but it is currently unclear how these will be and can be monitored.
A Quantitative Approach to Drug Dosing in Chronic Kidney Disease
Authors: Olyaei Ali J. , Steffl Jessica L.
Published: January 2011

Chronic kidney disease (CKD) is increasing at an alarming rate. Medication prescribing in this growing population is especially difficult. Many pharmacological agents or their metabolites are eliminated unchanged through the kidney. Drug dosing in CKD is challenging as most patients have a number of comorbid conditions. Patients with CKD take pharmacological agents with potential for drug interactions. Most patients also have alterations to the normal functioning of a number of different organs or systems (e.g. heart, liver, gastrointestinal system) which affect pharmacokinetics of commonly used drugs in CKD. Pharmacokinetic behaviors of most drugs are highly variable in patients with CKD. In addition, pharmacological management of patients with CKD is imprecise and requires estimating renal function, applying clinical judgment and, if available, therapeutic drug monitoring to provide adequate pharmacotherapeutic concentrations to optimize pharmacodynamic response while minimizing toxicities. For drugs that are removed through the renal system unchanged, a dosing modification should be considered according to patient- and drug-specific factors. Renal replacement therapy and dialysis remove pharmacologic agents extensively, and thus a replacement dose is needed to avoid therapeutic failure. By applying a quantitative approach, health care providers can improve pharmacotherapeutic outcomes while reducing adverse drug reactions.
Sleep Disorders over the Full Range of Chronic Kidney Disease
Authors: Pierratos Andreas , Hanly Patrick J.
Published: January 2011

Sleep disorders are common and underrecognized in patients at all stages of chronic kidney disease. They include sleep apnea, insomnia, excessive sleepiness, restless legs syndrome and periodic limb movement disorder. They can be related to underlying uremia or comorbidities. Sleep disorders can affect the quality of life, and some are associated with increased morbidity and mortality. Clinical assessment, polysomnography and other standardized assessments are required for diagnosis. Therapeutic approaches include improvement in uremia management, treatment of comorbidities or specific interventions directed at individual sleep disorders. Diagnosis and treatment of sleep disorders in this population may improve quality of life and patient survival.
BMP-2 and TGFβ2 Shared Pathways Regulate Endocardial Cell Transformation
Authors: Townsend Todd A. , Robinson Jamille Y. , Deig Christopher R. , Hill Cynthia R. , Misfeldt Andrew , Blobe Gerard C. , Barnett Joey V.
Published: January 2011

Valvular heart disease is a major cause of mortality and morbidity. Revealing the cellular processes and molecules that regulate valve formation and remodeling is required to develop effective therapies. A key step in valve formation during heart development is the epithelial-mesenchymal transformation (EMT) of a subpopulation of endocardial cells in the atrioventricular cushion (AVC). The type III transforming growth factor-β receptor (TGFβR3) regulates AVC endocardial cell EMT in vitro and mesenchymal cell differentiation in vivo. Little is known concerning the signaling mechanisms downstream of TGFβR3. Here we use endocardial cell EMT in vitro to determine the role of 2 well-characterized downstream TGFβ signaling pathways in TGFβR3-dependent endocardial cell EMT. Targeting of Smad4, the common mediator Smad, demonstrated that Smad signaling is required for EMT in the AVC and TGFβR3-dependent EMT stimulated by TGFβ2 or BMP-2. Although we show that Smads 1, 2, 3, and 5 are required for AVC EMT, overexpression of Smad1 or Smad3 is not sufficient to induce EMT. Consistent with the activation of the Par6/Smurf1 pathway downstream of TGFβR3, targeting ALK5, Par6, or Smurf1 significantly inhibited EMT in response to either TGFβ2 or BMP-2. The requirement for ALK5 activity, Par6, and Smurf1 for TGFβR3-dependent endocardial cell EMT is consistent with the documented role of this pathway in the dissolution of tight junctions. Taken together, our data demonstrate that TGFβR3-dependent endocardial cell EMT stimulated by either TGFβ2 or BMP-2 requires Smad4 and the activation of the Par6/Smurf1 pathway.
Long-Term Morbidity and Mortality Related to Falls in Hemodialysis Patients: Role of Age and Gender – A Pilot Study
Authors: Abdel-Rahman Emaad M. , Yan Guofen , Turgut Faruk , Balogun Rasheed A.
Published: January 2011

Background: Patients with end-stage renal disease (ESRD) on hemodialysis (HD) are prone to falls. In this pilot study, we aimed to determine the incidence of falls in a cohort of HD patients during a 1-year period, to identify any specific risk factors that may predict falls in this cohort, and to assess whether falls can independently predict hospitalization, nursing home admissions and/or mortality over an additional 2 years. Materials and Methods: Baseline assessments followed by documentation of falls prospectively during a 1-year period were done on 76 HD patients. Patients were followed for an additional 2 years and four outcomes were recorded: all-cause death, nursing home admission, the number and duration of all hospitalizations. Results: 20 patients (26.3%) fell over a 12-month period. Elderly and females had a higher risk of falls than the younger and male population (p = 0.034 and 0.006 respectively). During the 2-year follow-up, compared to non-fallers, fallers had a 2.13-fold increase in risk of death, a 3.5-fold increase in risk of nursing home admission, and nearly a 2-fold increase in the number and duration of hospitalizations. Conclusions: Falls are common in HD patients, with a higher incidence in females and elderly, and are associated with worse outcomes, more so in recurrent fallers.
Clinical Characteristics of Kidney Disease in Japanese HIV-Infected Patients
Authors: Yanagisawa Naoki , Ando Minoru , Ajisawa Atsushi , Imamura Akifumi , Suganuma Akihiko , Tsuchiya Ken , Nitta Kosaku
Published: January 2011

Background: Kidney disease has become an important cause of morbidity and mortality in HIV-infected patients in Western countries. Japan is a country with an increasing number of newly infected HIV patients. However, only a few studies have investigated kidney disease in Asian populations infected with HIV. Methods: We studied the prevalence of kidney disease by reviewing the clinical data of 732 HIV-infected Japanese patients. Risk factors for proteinuria, albuminuria, and renal dysfunction were determined using multivariate logistic regression analysis. Results: Microalbuminuria, macroalbuminuria and proteinuria were present in 13.2, 4.55 and 9.52% of patients, respectively. The prevalence of chronic kidney disease of any stage and CKD ≧ stage 3 was 15.4 and 9.70%, respectively. Multivariate analysis showed significant associations between increasing levels of serum creatinine and cholesterol, and the coexistence of diabetes, hypertension and hepatitis C coinfection with either proteinuria or albuminuria, which was significantly related to the presence of renal dysfunction. Lower CD4 cell count was associated with the presence of renal dysfunction, but higher HIV-RNA level was not. Conclusions: Our study has shown the international dimension of the burden of kidney disease in HIV-infected patients. Either proteinuria or albuminuria is likely the most significant factor for renal dysfunction in these patients.
A Preliminary Study on the Function of Food Begging in Sichuan Snub-Nosed Monkeys (Rhinopithecus roxellana): Challenge to Begging for Nutritional Gain
Authors: Zhang Zhen , Su Yanjie , Chan Raymond C.K.
Published: January 2011

Several hypotheses have been developed to explain what benefits a donor may gain from sharing food with another individual, with nutritional gain assumed to be the sole benefit for the beggar. Recently, it has been proposed that begging behaviour serves a social function in non-human primates. In this study, the nutritional-gain assumption was again challenged based on observations on a captive group of Sichuan snub-nosed monkeys (Rhinopithecus roxellana), or golden snub-nosed monkeys. The major findings from this study are that (1) beggars sometimes left their own branches or passed by available branches to beg for similar food from other individuals, (2) beggars occasionally ignored branches that were acquired by begging and (3) food begging occurred more frequently in the all-male unit after the social rank had changed between 2 individuals in this unit. Overall, these preliminary findings suggest that some begging behaviours in captive golden snub-nosed monkeys were not driven by nutritional gain only; instead, we propose that these begging behaviours could be interpreted as attempts at deriving social benefits.
EEG and Granular Osmiophilic Elements in Early-Onset Alzheimer’s Disease
Authors: Alberici Antonella , Borroni Barbara , Bonato Claudio , Agosti Chiara , Avanzi Stefano , Santorelli Filippo M. , Simonati Alessandro , Padovani Alessandro
Published: January 2011

Early-onset Alzheimer’s disease (EOAD) is a rare genetic disorder mainly attributable to a mutation in the presenilin 1 (PSEN1) gene. Clinical profile and instrumental findings share common features with adult neuronal ceroid lipofuscinosis. We documented the clinical course in EOAD patients bearing mutations in PSEN1. Genetic screening for dementia, EEG acquisition and determination of granular osmiophilic elements (GRODs) from skin biopsy were performed in a patient suffering from a severe cognitive decline and visual hallucinations. The pathogenic M146I mutation in PSEN1, and instrumental findings common to adult neuronal ceroid lipofuscinosis were found in the same patient. Posterior low pseudoperiodic sequences at EEG and GRODS elements at skin biopsy might constitute a signature in EOAD.
Association of Arterial Stiffness with Silent Cerebrovascular Lesions: The Ohasama Study
Authors: Hatanaka Rieko , Obara Taku , Watabe Daisuke , Ishikawa Tomofumi , Kondo Takeo , Ishikura Kazuki , Aikawa Tomoyuki , Aono Yoko , Hara Azusa , Metoki Hirohito , Asayama Kei , Kikuya Masahiro , Mano Nariyasu , Ohkubo Takayoshi , Izumi Shin-Ichi , Imai Yutaka
Published: January 2011

Background: Arterial stiffness is a risk factor for symptomatic stroke, and is associated with symptomatic cerebral infarction and cognitive impairment. Hence, we hypothesized that arterial stiffness would be a significant determinant of silent cerebrovascular lesions. Methods: The subjects were 363 individuals without symptomatic cerebrovascular lesions who had their arterial stiffness assessed by brachial-ankle pulse wave velocity (baPWV) measurement. The subjects were classified into two groups by the presence or absence of lacunar infarcts, as well as into three groups by grade of white matter hyperintensity (WMH). baPWV was compared among these groups. Results: Eighty-six subjects had lacunar infarcts. Of 138 subjects with WMHs, 102 were classified as having grade 1 and 36 as having grade 2 or 3 WMHs. baPWV was significantly higher in subjects with lacunar infarcts than in those without (17.3 ± 0.3 vs. 16.4 ± 0.2 m/s). baPWV tended to increase with higher WMH grade (16.2 ± 0.2, 16.9 ± 0.3, and 17.8 ± 0.5 m/s in grade 0, 1, and 2 or 3, respectively) after adjustments for confounding factors. The adjusted odds ratio (OR) for lacunar infarcts in subjects with middle-tertile baPWV was significantly higher (OR, 2.37; 95% confidence interval, CI, 1.10–5.11) and the OR in subjects with the highest-tertile baPWV tended to be higher (OR 2.26; 95% CI 0.99–5.45) compared with the lowest-tertile baPWV. The adjusted OR for WMH tended to increase with increased baPWV. Conclusions: Arterial stiffness appeared to be associated with the presence of a lacunar infarct and WMH, independently of the risks for other cerebrovascular diseases.
Angiopoietin-Like 4 (ANGPTL4) Gene Polymorphisms and Risk of Brain Arteriovenous Malformations
Authors: Mikhak Bahar , Weinsheimer Shantel , Pawlikowska Ludmila , Poon Annie , Kwok Pui-Yan , Lawton Michael T. , Chen Yongmei , Zaroff Jonathan G. , Sidney Stephen , McCulloch Charles E. , Young William L. , Kim Helen ,   for the BAVM Study Project
Published: January 2011

Background: Brain arteriovenous malformations (BAVM) are high-flow vascular lesions prone to intracranial hemorrhage (ICH). Abnormal angiogenesis is a key characteristic of BAVM tissue. Angiopoietin-like 4 (ANGPTL4), a secreted glycoprotein, is thought to be involved in angiogenesis and required for proper postnatal blood vessel partitioning. We investigated whether common single nucleotide polymorphisms (SNPs) in ANGPTL4 were associated with risk of BAVM or ICH. Methods and Results: We conducted a case-control study of 216 Caucasian BAVM cases and 246 healthy controls, and a secondary case-only analysis, comparing 83 ruptured (ICH) with 133 unruptured BAVM cases at presentation. Four tagSNPs in ANGPTL4 captured variation over a 10-kb region (rs2278236, rs1044250, rs11672433, and rs1808536) and were tested for association with BAVM or ICH. The minor allele (A) of rs11672433 (exon 6, Pro389Pro) was associated with an increased risk of BAVM (p = 0.006), which persisted after adjusting for multiple comparisons (p = 0.03). After adjustments for age and sex, carriers of the minor allele (A) remained at higher risk for BAVM compared to noncarriers (odds ratio, OR = 1.56; 95% confidence interval, CI = 1.01–2.41; p = 0.046) and risk of BAVM was increased with increasing copy of the minor A allele (OR = 1.49, 95% CI = 1.03–2.15; ptrend = 0.03). Five common haplotypes (frequency >1%) were inferred; overall haplotype distribution differed between BAVM cases and controls (χ2 = 12.2, d.f. = 4, p = 0.02). Neither SNPs (p > 0.05) nor haplotype distribution (χ2 = 1.1, d.f. = 4, p = 0.89) were associated with risk of ICH among BAVM cases. Conclusion: A synonymous SNP in ANGPTL4 and haplotypes carrying it are associated with risk of BAVM but not with ICH presentation in BAVM cases.
Repeated Restraint Stress Reduces the Number of IgA-Producing Cells in Peyer’s Patches
Authors: Martínez-Carrillo Beatriz Elina , Godinez-Victoria Marycarmen , Jarillo-Luna Adriana , Oros-Pantoja Rigoberto , Abarca-Rojano Edgar , Rivera-Aguilar Víctor , Pacheco Yépez Judith , Sánchez-Torres Luvia Enid , Campos-Rodríguez Rafael
Published: January 2011

The few reports that have analyzed the effects of stress on the immune cells of the intestinal mucosa or the functions of these cells have tended to focus on S-IgA levels in saliva, and these studies have shown contradictory results. The principal objective of this study was to analyze the effects of repeated restraint stress on the number and distribution of immune cells in Peyer’s patches (PPs) as well as the effects of glucocorticoid and catecholamine administration on the same stress-related parameters. Upon analyzing the effect of repeated restraint stress on PPs, it was found that there was no modification in the morphological structure of the PPs but that restraint stress reduced the total number of lymphocytes and the number of CD8+ T cells, B cells, and plasma cells in PPs. Only at the site of PPs where IgA-producing plasma cells are most numerous (the dome) was a decrease found in this type of cell. These effects were due at least in part to the effect of glucocorticoids and catecholamines. Since IgA produced in PPs is a natural antibody that impedes bacterial infections, repeated stress may favor the entry of pathogens through the intestine.
Arteriovenous Fistula Toxicity
Authors: Amerling Richard , Ronco Claudio , Kuhlman Martin , Winchester James F.
Published: January 2011

The arteriovenous fistula (AVF) has been a mainstay of hemodialysis treatments and the preferred access route since its inception in the 1960s, due to its longevity and resistance to infection. However, the AVF is not benign. There is significant primary failure, as well as cardiac, vascular, and other, less well recognized, complications. Together, they represent toxicity, to which considerable morbidity and mortality can be attached. Official policy, based on guidelines where AVF toxicity is given short shrift, drives an increase in use of these devices, and may have undesired consequences.
Amelogenesis Imperfecta and Nephrocalcinosis Syndrome: A Case Report and Review of the Literature
Authors: Martelli-Júnior Hercílio , Santos Neto Pedro Eleutério , Aquino Sibele Nascimento , Santos Carolina Carvalho , Borges Sabina Pena , Oliveira Eduardo Araujo , Lopes Marcio Ajudarte , Coletta Ricardo D.
Published: January 2011

Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. This paper describes the clinicopathological features of a patient who was born of consanguineous parents and who presented with oral alterations, including yellow and misshapen teeth, intrapulpal calcifications, delayed tooth eruption, and gum enlargement. Scanning electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome. Since nephrocalcinosis is often asymptomatic and can be associated with impaired renal function, dentists who see children with generalized and thin hypoplastic AI should consider a renal ultrasound scan and referral to a nephrologist, if appropriate. Children with nephrocalcinosis should also be considered for a dental check.
A Framework for Structural Equation Models in General Pedigrees
Authors: Morris Nathan J. , Elston Robert C. , Stein Catherine M.
Published: January 2011

Background/Aims: Structural Equation Modeling (SEM) is an analysis approach that accounts for both the causal relationships between variables and the errors associated with the measurement of these variables. In this paper, a framework for implementing structural equation models (SEMs) in family data is proposed. Methods: This framework includes both a latent measurement model and a structural model with covariates. It allows for a wide variety of models, including latent growth curve models. Environmental, polygenic and other genetic variance components can be included in the SEM. Kronecker notation makes it easy to separate the SEM process from a familial correlation model. A limited information method of model fitting is discussed. We show how missing data and ascertainment may be handled. We give several examples of how the framework may be used. Results: A simulation study shows that our method is computationally feasible, and has good statistical properties. Conclusion: Our framework may be used to build and compare causal models using family data without any genetic marker data. It also allows for a nearly endless array of genetic association and/or linkage tests. A preliminary Matlab program is available, and we are currently implementing a more complete and user-friendly R package.
Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes
Authors: Haddad N.M. , Ente D. , Chouery E. , Jalkh N. , Mehawej C. , Khoueir Z. , Pingault V. , Mégarbané A.
Published: January 2011

Waardenburg syndrome (WS) is a genetic disorder characterized primarily by depigmentation of the skin and hair, heterochromia of the irides, sensorineural deafness, and sometimes by dystopia canthorum, and Hirschsprung disease. WS presents a large clinical and genetic heterogeneity. Four different types have been individualized and linked to 5 different genes. We report 2 cases of WS type II and 1 case of WS type IV from Lebanon and Syria. The genetic studies revealed 2 novel mutations in the MITF gene of the WS type II cases and 1 novel homozygous mutation in the EDNRB gene of the WS type IV case. This is the first molecular study of patients from the Arab world. Additional cases will enable a more detailed description of the clinical spectrum of Waardenburg syndrome in this region.
Heart Rate Reduction by Ivabradine Reduces Diastolic Dysfunction and Cardiac Fibrosis
Authors: Busseuil David , Shi Yanfen , Mecteau Mélanie , Brand Geneviève , Gillis Marc-Antoine , Thorin Eric , Asselin Caroline , Roméo Philippe , Leung Tack Ki , Latour Jean-Gilles , Des Rosiers Christine , Bouly Muriel , Rhéaume Eric , Tardif Jean-Claude
Published: January 2011

Objectives: To determine if heart rate (HR) reduction with ivabradine (IVA), a selective inhibitor of the pacemaker If current, prevents cardiac dysfunction associated with dyslipidemia. Methods: New Zealand White rabbits received either a standard diet, a 0.5% cholesterol-enriched diet only (CD), or a 0.5% CD with IVA (17 mg/kg/day) for 12 weeks. HR, left ventricular (LV) systolic function, diastolic function and LV regional myocardial performance index (MPI) were studied using echocardiography. Histological analysis included cardiac interstitial fibrosis and collagen type I fibers. Plasma levels of angiotensin II and aldosterone were quantified by immunoassays. Results: IVA reduced HR by approximately 11%. IVA improved MPI and attenuated LV diastolic dysfunction (DD) (92% mild and 8% moderate DD with IVA vs. 54% mild and 46% moderate DD in CD group). IVA also reduced atrial fibrosis (p = 0.027), ventricular fibrosis (p = 0.0002) and ventricular collagen type I (p = 0.0042). IVA decreased plasma angiotensin II levels (p = 0.042), and both angiotensin II and aldosterone levels were correlated with HR (p = 0.038 and 0.008). Conclusion: Selective HR reduction with IVA reduces DD and cardiac fibrosis in hypercholesterolemic rabbits. These beneficial effects of IVA support testing pure HR reduction in patients with diastolic heart failure.
Analysis of the Prevalence and Risk Factors of Hypertension in the She Population in Fujian, China
Authors: Huang Jinping , Zhang Wei , Li Xiaohong , Zhou Jingxian , Gao Yan , Cai Yanju , Lin Xiaofang , Lai Xiaolan , Wu Yulian , Huang Baoying , Chen Zichun , Zhu Shaoheng , Chen Zhaoqiao , Lin Yinghua , Chen Gang
Published: January 2011

Objectives: The aim of this study was to investigate the prevalence and epidemiological characteristics of hypertension in the Chinese She ethnic minority in Fujian province of China. After analyzing relevant risk factors of hypertension, we wanted to provide information for prevention and control of hypertension in this ethnic minority. Methods: Using the stratified and cluster methods, we randomly selected 5,350 She subjects for a questionnaire survey. Their weight, height and blood pressure were measured. Hypertension was defined as a mean systolic blood pressure of ≧140 mm Hg or a diastolic blood pressure of ≧90 mm Hg, or use of antihypertensive medication. SPSS 13.0 software was used for database building and the χ2 test for statistical analysis. Results: The number of patients with hypertension was 1,931 (prevalence 36.09%) and 71.15% of them (1,374 patients) were undiagnosed. The prevalence of hypertension increased with age and was associated with education levels, occupation, body mass index, smoking, salt intake levels and a lack of health concepts. Conclusions: The prevalence of hypertension in the She has grown rapidly, which is closely correlated with lifestyle and lack of health education of hypertension. The prevention and control of hypertension in the She is imperative, and the promotion of health education on hypertension can be improved to enhance awareness, prevention, and control of hypertension.
Factors Associated with Cognitive Decline in Elderly Diabetics
Authors: Umegaki Hiroyuki , Kawamura Takahiko , Kawano Naoko , Umemura Toshitaka , Kanai Akio , Sano Takahisa
Published: January 2011

Background/Aims: Although recent evidence has indicated that type 2 diabetes mellitus (T2DM) in the elderly is a risk factor for cognitive dysfunction or dementia, few studies have prospectively observed this potential cognitive decline. In the current study, we performed cognitive assessments at baseline and after 3 years in the same patient group in an attempt to reveal the contributions of diabetes-related factors to the increased decline in cognitive function in elderly patients with T2DM. Methods: We recruited 55 consecutive T2DM patients with a Mini-Mental State Examination (MMSE) score ≧24 from the Diabetic Center at the Chubu Rosai Hospital. These patients ranged in age from 65 to 85 years. Cognitive and clinical assessments, including brain MRI, were performed at baseline and at the 3-year follow-up. Results: The higher plasma insulin and HbA1c levels observed at baseline were significantly associated with a worse cognitive performance at baseline and a more neurocognitive decline at the follow-up visit. Conclusion: The current prospective study suggests that higher insulin and glycohemoglobin levels may be associated with diabetes-related cognitive dysfunction.
Different Characteristics of Cognitive Impairment in Elderly Schizophrenia and Alzheimer’s Disease in the Mild Cognitive Impairment Stage
Authors: Kazui Hiroaki , Yoshida Tetsuhiko , Takaya Masahiko , Sugiyama Hiromichi , Yamamoto Daisuke , Kito Yumiko , Wada Tamiki , Nomura Keiko , Yasuda Yuka , Yamamori Hidenaga , Ohi Kazutaka , Fukumoto Motoyuki , Iike Naomi , Iwase Masao , Morihara Takashi , Tagami Shinji , Shimosegawa Eku , Hatazawa Jun , Ikeda Yoshiyuki , Uchida Eiichi , Tanaka Toshihisa , Kudo Takashi , Hashimoto Ryota , Takeda Masatoshi
Published: January 2011

We compared indices of the revised version of the Wechsler Memory Scale (WMS-R) and scaled scores of the five subtests of the revised version of the Wechsler Adult Intelligence Scale (WAIS-R) in 30 elderly schizophrenia (ES) patients and 25 Alzheimer’s disease (AD) patients in the amnestic mild cognitive impairment (aMCI) stage (AD-aMCI). In the WMS-R, attention/concentration was rated lower and delayed recall was rated higher in ES than in AD-aMCI, although general memory was comparable in the two groups. In WAIS-R, digit symbol substitution, similarity, picture completion, and block design scores were significantly lower in ES than in AD-aMCI, but the information scores were comparable between the two groups. Delayed recall and forgetfulness were less impaired, and attention, working memory and executive function were more impaired in ES than in AD-aMCI. These results should help clinicians to distinguish ES combined with AD-aMCI from ES alone.
New Techniques for the Detection and Adjustment of Shifts in Daily Precipitation Data Series
Authors: Wang Xiaolan L. , Chen Hanfeng , Wu Yuehua , Feng Yang , Pu Qiang
Published: January 2011

This study integrates a Box–Cox power transformation procedure into a common trend two-phase regression-model-based test (the extended version of the penalized maximal F test, or “PMFred,” algorithm) for detecting changepoints to make the test applicable to non-Gaussian data series, such as nonzero daily precipitation amounts or wind speeds. The detection-power aspects of the transformed method (transPMFred) are assessed by a simulation study that shows that this new algorithm is much better than the corresponding untransformed method for non-Gaussian data; the transformation procedure can increase the hit rate by up to ∼70%. Examples of application of this new transPMFred algorithm to detect shifts in real daily precipitation series are provided using nonzero daily precipitation series recorded at a few stations across Canada that represent very different precipitation regimes. The detected changepoints are in good agreement with documented times of changes for all of the example series. This study clarifies that it is essential for homogenization of daily precipitation data series to test the nonzero precipitation amount series and the frequency series of precipitation occurrence (or nonoccurrence), separately. The new transPMFred can be used to test the series of nonzero daily precipitation (which are non Gaussian and positive), and the existing PMFred algorithm can be used to test the frequency series. A software package for using the transPMFred algorithm to detect shifts in nonzero daily precipitation amounts has been developed and made freely available online, along with a quantile-matching (QM) algorithm for adjusting shifts in nonzero daily precipitation series, which is applicable to all positive data. In addition, a similar QM algorithm has also been developed for adjusting Gaussian data such as temperatures. It is noticed that frequency discontinuities are often inevitable because of changes in the measuring precision of precipitation, and that they could complicate the detection of shifts in nonzero daily precipitation data series and void any attempt to homogenize the series. In this case, one must account for all frequency discontinuities before attempting to adjust the measured amounts. This study also proposes approaches to account for detected frequency discontinuities, for example, to fill in the missed measurements of small precipitation or the missed reports of trace precipitation. It stresses the importance of testing the homogeneity of the frequency series of reported zero precipitation and of various small precipitation events, along with testing the series of daily precipitation amounts that are larger than a small threshold value, varying the threshold over a set of small values that reflect changes in measuring precision over time.
Toward New Inferences about Cloud Structures from Multidirectional Measurements in the Oxygen A Band: Middle-of-Cloud Pressure and Cloud Geometrical Thickness from POLDER-3/PARASOL
Authors: Ferlay Nicolas , Thieuleux François , Cornet Céline , Davis Anthony B. , Dubuisson Philippe , Ducos Fabrice , Parol Frédéric , Riédi Jérôme , Vanbauce Claudine
Published: January 2011

New evidence from collocated measurements, with support from theory and numerical simulations, that multidirectional measurements in the oxygen A band from the third Polarization and Directionality of the Earth’s Reflectances (POLDER-3) instrument on the Polarization and Anisotropy of Reflectances for Atmospheric Sciences coupled with Observations from a Lidar (PARASOL) satellite platform within the “A-Train” can help to characterize the vertical structure of clouds is presented. In the case of monolayered clouds, the standard POLDER cloud oxygen pressure product PO2 is shown to be sensitive to the cloud geometrical thickness H in two complementary ways: 1) PO2 is, on average, close to the pressure at the geometrical middle of the cloud layer (MCP) and methods are proposed for reducing the pressure difference PO2 − MCP and 2) the angular standard deviation of PO2 and the cloud geometrical thickness H are tightly correlated for liquid clouds. Accounting for cloud phase, there is thus the potential to obtain a statistically reasonable estimate of H. Such derivation from passive measurements, as compared with or supplementing other observations, is expected to be of interest in a broad range of applications for which it is important to define better the macrophysical cloud parameters in a practical way.
Performance of a Mesoscale Ensemble Kalman Filter (EnKF) during the NOAA High-Resolution Hurricane Test
Authors: Torn Ryan D.
Published: January 2011

An ensemble Kalman filter (EnKF) combined with the Advanced Research Weather Research and Forecasting model (ARW-WRF; hereafter WRF) on a 36-km Atlantic basin domain is cycled over six different time periods that include the 10 tropical cyclones (TCs) selected for the NOAA High-Resolution Hurricane (HRH) test. The analysis ensemble is generated every 6 h by assimilating conventional in situ observations, synoptic dropsondes, and TC advisory position and minimum sea level pressure (SLP) data. On average, observation assimilation leads to smaller TC position errors in the analysis compared to the 6-h forecast; however, the same is true for TC minimum SLP only for tropical depressions and storms. Over the 69 HRH initialization times, TC track forecasts from a single member of the WRF EnKF ensemble has 12 h less skill compared to other operational models; the increased track error partially results from the WRF EnKF analysis having a stronger Atlantic subtropical ridge. For nonmajor TCs, the WRF EnKF forecast has lower TC minimum SLP and maximum wind speed errors compared to some operational models, particularly the GFDL model, while category-3, -4, and -5 TCs are characterized by large biases due to horizontal resolution. WRF forecasts initialized from an EnKF analysis have similar or smaller TC track, intensity, and 34-kt wind radii errors relative to those initialized from two other operational analyses, which suggests that EnKF assimilation produces the best TC forecasts for this domain. Both TC track and intensity forecasts are deficient in ensemble variance, which is at least partially due to the lack of error growth in dynamical fields and model biases.