bluuebunny/crossref_metadata_2025 huggingface dataset:
Effect of Different Levels of Docosahexaenoic Acid Supply on Fatty Acid Status and Linoleic and α‐Linolenic Acid Conversion in Preterm Infants
Authors: Sauerwald Ulrike C. , Fink Maria M. , Demmelmair Hans , Schoenaich Patrick v. , Rauh‐Pfeiffer Astrid A.M. , Koletzko Berthold
Published: October 2011

Objectives:

Long‐chain polyunsaturated fatty acid (LC‐PUFA) enrichment of preterm infant formulas is recommended to meet high demands. Dietary LC‐PUFA may inhibit endogenous LC‐PUFA synthesis, thus limiting their benefit. We investigated effects of different docosahexaenoic acid (DHA) intakes on plasma and erythrocyte fatty acids and endogenous LC‐PUFA synthesis in preterm infants.

Methods:

Forty‐two preterm infants (birth weight 1000–2200 g) were randomized double‐blind to preterm formulas with γ‐linolenic acid (0.4%) and arachidonic acid (AA, 0.1%) but different DHA contents (A: 0.04%, B: 0.33%, C: 0.52%); 24 received human milk (HM: 0.51% AA, 0.38% DHA, nonrandomized). Blood was sampled on study days 0, 14, and 28. Uniformly 13C‐labeled linoleic acid (2 mg/kg) and α‐linolenic acid (1 mg/kg) were applied orally on day 26 and blood samples collected 48 hours later.

Results:

On day 28, group A had the lowest and group C the highest plasma phospholipid concentrations of eicosapentaenoic acid and DHA. Erythrocyte phospholipid DHA was lowest in group A, but comparable in groups B, C, and HM. Plasma and erythrocyte AA were lower in formula groups than in HM. DHA intake had no effect on DHA synthesis. LC‐PUFA synthesis was lower in HM infants.

Conclusions:

DHA supply dose dependently increased plasma DHA. Formula DHA levels of 0.33% matched plasma DHA status of infants fed HM. LC‐PUFA synthesis was lower in infants fed HM than formulas with different DHA and low AA contents. With the LC‐PUFA supplementation used, DHA in formulas did not inhibit AA or DHA synthesis.
PedsQL Gastrointestinal Symptoms Module Item Development
Authors: Varni James W. , Kay Marie T. , Limbers Christine A. , Franciosi James P. , Pohl John F.
Published: October 2011

Objectives:

The objective of the present qualitative study was to develop the items and support the content validity for the Pediatric Quality of Life Inventory (PedsQL) Gastrointestinal Symptoms Module for pediatric patients with functional gastrointestinal (GI) disorders and organic GI diseases, hereafter referred to as GI disorders.

Methods:

The iterative process included multiphase qualitative methods. A literature review of GI disorders was conducted to generate domains for the focus interviews. Six pediatric gastroenterologists with extensive clinical experience in GI disorders provided expert opinion regarding the conceptual framework. A total of 98 participants, 46 pediatric patients ages 5 to 18, and 52 parents of patients ages 2 to 18 with physician‐diagnosed GI disorders (chronic constipation, functional abdominal pain, irritable bowel syndrome, inflammatory bowel disease [Crohn disease, ulcerative colitis], gastroesophageal reflux disease), participated in the focus interviews and cognitive interviewing phases, including think‐aloud and cognitive debriefing protocols.

Results:

Eleven domains were derived from the qualitative methods involving patient and parent interviews and expert opinion, with content saturation achieved, resulting in 76 items. The 11 domains consisted of items measuring stomach pain, stomach upset, food and drink limits, trouble swallowing, heartburn and reflux, gas and bloating, constipation, diarrhea, worry, medicines, and communication.

Conclusions:

Qualitative methods involving pediatric patients and their parents in the item generation process support the content validity for the new PedsQL Gastrointestinal Symptoms Module. The PedsQL Gastrointestinal Symptoms Module is undergoing national multisite field testing as the next iterative phase.
Active Bax and Bak are functional holins
Authors: Pang Xiaming , Moussa Samir H. , Targy Natalie M. , Bose Jeffrey L. , George Nicholas M. , Gries Casey , Lopez Hernando , Zhang Liqiang , Bayles Kenneth W. , Young Ry , Luo Xu
Published: October 2011

The mechanism of Bax/Bak-dependent mitochondrial outer membrane permeabilization (MOMP), a central apoptotic event primarily controlled by the Bcl-2 family proteins, remains not well understood. Here, we express active Bax/Bak in bacteria, the putative origin of mitochondria, and examine their functional similarities to the λ bacteriophage (λ) holin. As critical effectors for bacterial lysis, holin oligomers form membrane lesions, through which endolysin, a muralytic enzyme, escapes the cytoplasm to attack the cell wall at the end of the infection cycle. We found that active Bax/Bak, but not any other Bcl-2 family protein, displays holin behavior, causing bacterial lysis by releasing endolysin in an oligomerization-dependent manner. Strikingly, replacing the holin gene with active alleles of Bax/Bak results in plaque-forming phages. Furthermore, we provide evidence that active Bax produces large membrane holes, the size of which is controlled by structural elements of Bax. Notably, lysis by active Bax is inhibited by Bcl-xL, and the lysis activity of the wild-type Bax is stimulated by a BH3-only protein. Together, these results mechanistically link MOMP to holin-mediated hole formation in the bacterial plasma membrane.
Changes in sobriety in the Swedish population over three decades: age, period or cohort effects?
Authors: Ahacic Kozma , Kennison Robert F. , Kåreholt Ingemar
Published: October 2011

Aims  This study aimed to examine age, cohort and period trends in alcohol abstinence.

Design  Two surveys, the Level of Living Survey collected in 1968, 1974, 1981, 1990 and 2000, and the Swedish Panel Study of the Oldest Old (SWEOLD) collected in 1992 and 2002, were studied with graphical depictions of cross‐sectional and longitudinal data presented over time and over age. Cross‐sectional 10‐year age group differences, time‐lag differences between waves and within‐cohort differences between waves for 10‐year birth cohorts were examined. Logistic regression models were applied to confirm the observed patterns.

Setting  The samples were representative of the Swedish population.

Participants  Participants ranged in age from 18 to 75 (n = 5000 per wave), and 77+ at later waves (n = 500).

Measurements  Alcohol abstinence was determined by asking ‘Do you ever drink wine, beer, or spirits?’, where a ‘no’ response indicated abstinence.

Findings  Decreases in abstinence rates were observed from 1968 to 2000/02. While cross‐sectional analysis indicated increased abstinence with advancing age, the longitudinal analysis suggested otherwise. Inspection of cohort differences revealed little change within cohorts and large differences between cohorts; abstinence rates declined in later‐born cohorts up to the 1940s birth cohorts; stability was observed in cohorts born since the 1940s. Logistic regression models indicated that neither age nor period were significant (P > 0.05) predictors of abstinence when cohort (P < 0.001) was included.

Conclusion  Decreasing proportions of total alcohol abstainers in Sweden from 1968 to 2000 appear to be attributable primarily to decreases in successive cohorts rather than drinkers becoming abstainers.
Fruiting phenology of fig trees in Kalinzu Forest, Uganda
Authors: Muhanguzi Hosea D. R. , Ipulet Perpetua
Published: October 2011

The study determined the abundance and species composition of fig trees that fruited in the different forest types of Kalinzu Forest Reserve (KFR), Uganda. It also assessed the seasonal variations in abundance and species composition of the fig trees, the relationships between the fruiting patterns and rainfall and the figs’ inter‐ and intraspecific patterns of fruiting episodes. Sixteen fig species represented by 515 individuals were monitored monthly from December 2007 to January 2010. Most individuals and species that fruited were in the secondary forest types (the Musanga‐ and Parinari‐dominated secondary forests) and abundances of individuals of the different species were significantly associated with particular forest types. One colonizing species (Ficus sur) was the most abundant species that fruited and was mostly recorded in the secondary forests. Species composition and abundances of trees that fruited varied seasonally, and only the abundances of two canopy species (Ficus lingua and Ficus sansibarica) were significantly related with monthly rainfall. Most species experienced at least four fruiting phases, and F. sur displayed the longest episode covering 22 months. The results suggest that the past intensive logging in KFR promoted the regeneration of a diversity of fig species, and most species generally experience community‐wide asynchronous fruiting.
Supporting the transition of looked‐after young people to independent living: a systematic review of interventions and adult outcomes
Authors: Everson‐Hock E. S. , Jones R. , Guillaume L. , Clapton J. , Duenas A. , Goyder E. , Chilcott J. , Cooke J. , Payne N. , Sheppard L. M. , Swann C.
Published: October 2011

This systematic review aimed to synthesize evidence on the effectiveness of transition support services (TSSs) that are delivered towards the end of care for looked‐after young people (LAYP) on their adult outcomes, including education, employment, substance misuse, criminal and offending behaviour, parenthood, housing and homelessness and health. Searches of health, social science and social care bibliographic databases were conducted and records were screened for relevance. Citation and reference list searches were conducted on included studies. Relevant studies were synthesized and critically appraised. Seven studies were identified (five retrospective and two prospective cohort studies), six of which were conducted in the USA and one in the UK. Overall, LAYP who received TSSs were more likely to complete compulsory education with formal qualifications, be in current employment, be living independently and less likely to be young parents. There was no reported effect of the impact of TSSs on crime or mental health, and mixed findings for homelessness. The range of TSS components investigated and reported varied considerably within and between studies, with limited evidence of long‐term outcomes. The literature reviewed offers no reliable conclusions on the effectiveness of TSSs at this time due to variations in research quality and because few formal evaluations of existing TSSs have been conducted, resulting in mixed evidence in terms of positive, negative and neutral impact on outcomes. Further high‐quality, robust research to evaluate the effectiveness of TSSs on adult outcomes for young people in the short, medium and longer term is needed to address the health inequalities experienced by this small but vulnerable group and to inform decision making about service provision.
A comparison of five transition programmes for youth with chronic illness in Canada
Authors: Grant C. , Pan J.
Published: October 2011

Adolescents with chronic illnesses who are transferred from the paediatric healthcare setting to adult care often get lost in the system, resulting in poorer long‐term health outcomes. The Canadian Pediatric Society and the Society of Adolescent Health and Medicine have position papers on the key elements recommended for transition programmes. A comparison of five transition programmes for youth with chronic illness in Canada is presented with a discussion of how they reflect these guidelines. The process used to review the content and effectiveness can provide others with a framework for learning about existing transition programmes to assist them in developing their own.
Bone turnover markers predict changes in bone mineral density after parathyroidectomy in patients with renal hyperparathyroidism
Authors: Lu Kuo‐Cheng , Ma Wen‐Ya , Yu Jyh‐Cherng , Wu Chia‐Chao , Chu Pauling
Published: October 2011

Objective  Patients on long‐term dialysis may develop secondary hyperparathyroidism (SHPT), which causes varying degrees of bone mass loss. This condition is treated with parathyroidectomy (PTX). We investigated whether serial serum bone turnover markers could predict changes in bone mineral density (BMD) after PTX.

Design and patients  Renal patients on maintenance haemodialysis who received PTX for refractory SHPT (n = 26, male/female: 13/13; mean age: 48·6 ± 10·7 year) and control subjects without SHPT (n = 25) were prospectively followed for 1 year at two tertiary hospitals in Taiwan.

Measurements  Serum intact parathyroid hormone (iPTH), bone‐specific alkaline phosphatase (BAP) and type 5b tartrate‐resistant acid phosphatase (TRAP) were measured serially. Additionally, femoral neck (FN) and lumbar spine (LS) BMD were measured before and 1 year after PTX.

Results  After PTX, iPTH levels decreased markedly and persistently. BMDs increased in both the FN and LS, but particularly in the LS. Serum BAP progressively increased to a peak at 2 weeks after PTX. Serum TRAP levels progressively decreased over 6 months after PTX. In univariate correlation analyses, baseline iPTH correlated positively with T‐score changes in FN (r = 0·45, P = 0·021) and LS (r = 0·48, P = 0·013). In multivariate regression models, changes in FN T‐scores were negatively predicted by baseline BAP levels (r = −0·615, P = 0·005) and baseline FN T‐scores (r = −0·563, P = 0·012), and they were positively predicted by baseline TRAP(r = 0·6, P = 0·007). Changes in LS T‐scores were positively predicted by baseline TRAP values (r = 0·528, P = 0·01) and negatively predicted by the percentage change in BAP after 2 weeks (r = −0·501, P = 0·015).

Conclusions  Parathyroidectomy provided marked, sustained improvements in BMD for up to 1 year. Furthermore, markers of bone turnover predicted 1‐year changes in FN and LS BMDs after PTX.
Postoperative pain experience and barriers to pain management in Chinese adult patients undergoing thoracic surgery
Authors: Yin Hai Hui , Tse Mimi MY , Wong Frances KY
Published: October 2011

Aims.  The purpose of this study was (1) to explore postoperative pain experience among Chinese thoracotomy patients during hospitalisation; (2) to identify patient‐related barriers to pain management; and (3) to explore how these barriers were related to patients’ pain experience.

Background.  Major thoracotomy causes severe pain and extreme stress for patients. Unrelieved postoperative pain leads to high risks of postoperative complications and chronic post‐thoracotomy pain syndrome, compromising the quality of life for those patients.

Design.  Cross‐sectional design.

Methods.  A tertiary general hospital in mainland China was selected for this study. A total of 94 patients undergoing scheduled major thoracotomy operations participated in the study. All patients completed Brief Pain Inventory‐Chinese version, the Barrier Questionnaire‐Taiwan Form Surgical version and a demographic questionnaire.

Results.  Patients suffered moderate to severe pain and experienced extremely high interferences with daily activities after major thoracotomy operation. Patients reported the four highest barrier scores in the subscale of Barrier Questionnaire‐Taiwan Form Surgical version were fear of tolerance, inhibition of wound healing, time intervals and distracting the physician from treating the disease. Patient’s demographic data had no significant impact on their concerns about communicating pain and using of analgesics with exception of the subscale ‘fatalism’ of the Barrier Questionnaire–Taiwan Form Surgical version in patients with higher education levels or patients with ‘non‐farmer’ occupation. However, there were no significant correlations indicated either between Barrier Questionnaire–Taiwan Form Surgical version score and pain severity or pain interference.

Conclusions.  Patients were underexposure of pain treatment after thoracotomy operation in the study, while patients’ concerns about reporting pain and using analgesics had minimal impacts on their pain experience.

Relevance to clinical practice.  Education approach for patients is inadequate to improve the status of unrelieved postoperative pain. Appropriate pain management regime together with attentive nursing care should be provided to achieve better pain relief for Chinese patients.
The fruit cuticles of wild tomato species exhibit architectural and chemical diversity, providing a new model for studying the evolution of cuticle function
Authors: Yeats Trevor H. , Buda Gregory J. , Wang Zhonghua , Chehanovsky Noam , Moyle Leonie C. , Jetter Reinhard , Schaffer Arthur A. , Rose Jocelyn K. C.
Published: October 2011

The cuticle covers the aerial epidermis of land plants and plays a primary role in water regulation and protection from external stresses. Remarkable species diversity in the structure and composition of its components, cutin and wax, have been catalogued, but few functional or genetic correlations have emerged. Tomato (Solanum lycopersicum) is part of a complex of closely related wild species endemic to the northern Andes and the Galapagos Islands (Solanum Sect. Lycopersicon). Although sharing an ancestor <7 million years ago, these species are found in diverse environments and are subject to unique selective pressures. Furthermore, they are genetically tractable, since they can be crossed with S. lycopersicum, which has a sequenced genome. With the aim of evaluating the relationships between evolution, structure and function of the cuticle, we characterized the morphological and chemical diversity of fruit cuticles of seven species from Solanum Sect. Lycopersicon. Striking differences in cuticular architecture and quantities of cutin and waxes were observed, with the wax coverage of wild species exceeding that of S. lycopersicum by up to seven fold. Wax composition varied in the occurrence of wax esters and triterpenoid isomers. Using a Solanum habrochaites introgression line population, we mapped triterpenoid differences to a genomic region that includes two S. lycopersicum triterpene synthases. Based on known metabolic pathways for acyl wax compounds, hypotheses are discussed to explain the appearance of wax esters with atypical chain lengths. These results establish a model system for understanding the ecological and evolutionary functional genomics of plant cuticles.
Expression and manipulation of PHOSPHOENOLPYRUVATE CARBOXYKINASE 1 identifies a role for malate metabolism in stomatal closure
Authors: Penfield Steven , Clements Sarah , Bailey Karen J. , Gilday Alison D. , Leegood Richard C. , Gray Julie E. , Graham Ian A.
Published: October 2011

Malate, along with potassium and chloride ions, is an important solute for maintaining turgor pressure during stomatal opening. Although malate is exported from guard cells during stomatal closure, there is controversy as to whether malate is also metabolised. We provide evidence that phosphoenolpyruvate carboxykinase (PEPCK), an enzyme involved in malate metabolism and gluconeogenesis, is necessary for full stomatal closure in the dark. Analysis of the Arabidopsis PCK1 gene promoter indicated that this PEPCK isoform is specifically expressed in guard cells and trichomes of the leaf. Spatially distinct promoter elements were found to be required for post‐germinative, vascular expression and guard cell/trichome expression of PCK1. We show that pck1 mutant plants have reduced drought tolerance, and show increased stomatal conductance and wider stomatal apertures compared with the wild type. During light–dark transients the PEPCK mutant plants show both increased overall stomatal conductance and less responsiveness of the stomata to darkness than the wild type, indicating that stomata get ‘jammed’ in the open position. These results show that malate metabolism is important during dark‐induced stomatal closure and that PEPCK is involved in this process.
A delayed diagnosis of lepromatous leprosy: pitfalls and clues to early recognition
Authors: Kerkeni Nadia , El Fékih Nadia , Fazaa Bécima , Zéglaoui Faten , Mnif Emna , Kamoun Mohamed Ridha
Published: October 2011

Purpose  To remind special attention to atypical symptoms of Hansen’s disease, we report a case of an atypical case due to a delayed diagnosis.

Background  Clinical features of leprosy are well known, cutaneous lesions and involvement of the peripheral nerves being the cardinal clinical signs. Among these presentations, systemic involvement, including mucous membranes of the upper respiratory tract and eyes, is rarely reported even if it is still commonly seen in endemic areas, in particular lepromatous leprosy.

Case report  We describe here a new case of Hansen’s disease in a 51‐year‐old Tunisian woman with an atypical presentation and a delayed diagnosis. The early symptoms of the disease were different from the main clinical signs of Hansen’s disease since they involved the upper respiratory tract and the eyes. A nasal smear was positive for acid‐fast bacilli, thus confirming the diagnosis of bacilliferous leprosy. Histological findings suggested the diagnosis of leprosy and were somewhat more characteristic of the borderline lepromatous type.

Conclusion  Diagnosis of Hansen’s disease in patients with neither apparent skin lesions nor neurological signs is still problematic. Clinicians should not only pay attention to the more obvious signs in their own fields of expertise but should be aware of the possible systemic involvement of leprosy.
Topical herbal extract (Huangdang mixture) exhibits both preventive and therapeutic effects in murine acute irritant contact dermatitis
Authors: Man Wenyan , Man Mona , Hupe Melanie , Martin‐Ezquerra Gemma , Feingold Kenneth R. , Elias Peter M. , Man Mao‐Qiang
Published: October 2011

Background Contact dermatitises, including allergic contact dermatitis and irritant contact dermatitis, are among the most common skin disorders in humans. Chinese herbal medicines (CHM) have been used in treating contact dermatitises for centuries. Systemic administration of CHM, including ingredients in Huangdang mixture containing Chinese angelica, Radix Paeonlae rubra, cat nut, and phelloden dron, rhizoma alismatis, rhizoma smilacis glabrae, and rhizome of swordlike, improves allergic contact dermatitis induced by l‐fluoro‐2,4‐dinitrobenzene. Whether topical applications of these herbal extracts display preventive and/or therapeutic effects on contact dermatitis, thereby avoiding the potential side effects of systemic CHM, remains largely unknown.

Aims To determine whether this topical CHM extract exerts preventive and/or therapeutic effects, we assessed its efficacy in both allergic contact dermatitis and irritant contact dermatitis murine models.

Materials and methods Allergic contact dermatitis and irritant contact dermatitis murine models were established by topical oxazolone and a phorbol ester (12‐O‐tetradecanoylphorbol‐13‐acetate; TPA), respectively. Ear thickness was assessed in both dermatitis models.

Results Our results demonstrate that this topical CHM extract exhibits both therapeutic and preventive effects in acute irritant contact dermatitis but no demonstrable efficacy in murine allergic contact dermatitis.

Conclusion These results suggest that this topical CHM extract could provide an alternative regimen for the prevention and treatment of irritant contact dermatitis.
Impact of Nrf2 on esophagus epithelium cornification
Authors: Wruck Christoph J. , Wruck Anja , Brandenburg Lars‐Ove , Kadyrov Mamed , Tohidnezhad Mersedeh , Pufe Thomas
Published: October 2011

Background  Nrf2 is a transcription factor that is known to maintain cellular defense against the toxicity of electrophiles and reactive oxygen species (ROS).

Methods  We show an effect of Nrf2 deficiency on the histology of the esophagus of Nrf2 knockout mice.

Results  Quantitative analysis of esophageal cornification via hematoxylin and eosin (H&E) staining revealed significantly (P = 0.0127) decreased stratification in Nrf2 knockout mice compared with wild‐type controls. In addition, we show that Nrf2 is expressed solely in the stratum spinosum and not in the stratum basale of the epidermis. This expression pattern is exactly the same as those described for keratin K6 and K16.

Conclusions  We conclude that Nrf2 regulates the cornification of epithelia and may play a role in callus formation and wound healing of the skin, as well as in skin aging.
Misconceptions about laser treatment among dermatology patients
Authors: AlGhamdi Khalid M. , Moussa Noura A.
Published: October 2011

Background  The use of lasers is very common in dermatology; however, many patients fear it and have various misconceptions about it. A literature search failed to show any studies on this topic.

Objective  To explore the various misconceptions of patients about lasers in dermatology.

Methods  A self‐administered questionnaire containing 21 questions about laser use in dermatology was distributed randomly to patients attending the dermatology clinic at King Khalid University Hospital in Riyadh, Saudi Arabia, from February to April 2009.

Results  The response rate was 79.3%, with 714 of the 900 distributed questionnaires being returned; the individuals sampled included 348 men (48.73%). When asked about the nature of laser, 40% (279 of 698) reported that they did not know. About 36% (251 of 698) knew it was radiation of stimulated light amplification, while 10.2% (71 of 698) reported it to be nuclear radiation. Among study participants, 51.5% (364 of 707) believed that laser was harmful to children, while 51.1% (357 of 699) believed it was unsafe during pregnancy, and 21.4% (146 of 683) thought it could cause skin cancer. Laser was believed to treat most skin diseases by 47.7% (330 of 692) of those interviewed, among whom 24.1% said that they would not accept laser treatment if it was suggested to them by a dermatologist. A stance against laser (16.3%) was most common among men (P < 0.001), the illiterate (P = 0.006), and those with lower education (P = 0.001).

Conclusion  Various misconceptions about laser treatment among patients are prevalent, especially among less educated individuals. Educating the community about laser could solve this problem.
Alcohol, psoriasis, liver disease, and anti‐psoriasis drugs
Authors: Cassano Nicoletta , Vestita Michelangelo , Apruzzi Doriana , Vena Gino A
Published: October 2011

Over the last years, data have been accumulating regarding a possible association between alcohol and psoriasis. While it is still unclear whether alcohol misuse represents a true risk factor or merely an epiphenomenon of the cutaneous disease, a number of studies support the role of ethanol and its metabolites as triggering factors of psoriasis. A drinking habit also appears to exacerbate a preexisting psoriasis, and the magnitude of alcohol consumption may be related to both a higher incidence and severity of psoriasis. Evidence also shows that deaths from alcohol‐related causes are significantly more frequent in patients with psoriasis than in normal controls. Alcohol consumption may adversely affect psoriasis through multiple mechanisms, such as increased susceptibility to infections, stimulation of lymphocyte and keratinocyte proliferation, and production of proinflammatory cytokines. Moreover, alcohol misuse can predispose to a greater risk of liver disease and potential drug interactions. Alcoholic and non‐alcoholic liver diseases have both been found to be common in psoriatic patients. Tumor necrosis factor (TNF)‐alpha, a key cytokine in psoriasis pathogenesis, has been found to have a crucial role in alcoholic hepatitis, and small preliminary studies have evaluated the effect of anti‐TNF therapy in this condition. However, the use of anti‐TNF‐α drugs in alcoholic hepatitis is still controversial and needs to be further investigated. In this review, the relationship between alcohol and psoriasis will be reviewed and discussed, taking also into account recent findings related to liver disease and therapeutic implications.
Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype–phenotype correlation in a large Chinese family with Darier’s disease
Authors: Lu Feng‐Yan , Xu Ling , Yin Xun‐Guo , Wan Ping , Zhang Xiao‐De , Chen Wei‐Wen , Ding Shao‐Ping , Yao Yong‐Gang
Published: October 2011

Darier’s disease (DD, MIM 124200) is an autosomal dominant inherited skin disease. Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca2+‐ATPase isoform 2 (SERCA2), are responsible for this skin disorder. Here we report the clinical, genetic, and molecular characterization of a large Chinese family with DD. We identified mutation c.632G>A (p.G211D) in the ATP2A2 gene in this family. Genotype–phenotype correlation in available family members provided helpful genetic counseling information for mutation carriers.
Genome‐wide significant association between alcohol dependence and a variant in the ADH gene cluster
Authors: Frank Josef , Cichon Sven , Treutlein Jens , Ridinger Monika , Mattheisen Manuel , Hoffmann Per , Herms Stefan , Wodarz Norbert , Soyka Michael , Zill Peter , Maier Wolfgang , Mössner Rainald , Gaebel Wolfgang , Dahmen Norbert , Scherbaum Norbert , Schmäl Christine , Steffens Michael , Lucae Susanne , Ising Marcus , Müller‐Myhsok Bertram , Nöthen Markus M. , Mann Karl , Kiefer Falk , Rietschel Marcella
Published: October 2011

Alcohol dependence (AD) is an important contributory factor to the global burden of disease. The etiology of AD involves both environmental and genetic factors, and the disorder has a heritability of around 50%. The aim of the present study was to identify susceptibility genes for AD by performing a genome‐wide association study (GWAS). The sample comprised 1333 male in‐patients with severe AD according to the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and 2168 controls. These included 487 patients and 1358 controls from a previous GWAS study by our group. All individuals were of German descent. Single‐marker tests and a polygenic score‐based analysis to assess the combined contribution of multiple markers with small effects were performed. The single nucleotide polymorphism (SNP) rs1789891, which is located between the ADH1B and ADH1C genes, achieved genome‐wide significance [P = 1.27E–8, odds ratio (OR) = 1.46]. Other markers from this region were also associated with AD, and conditional analyses indicated that these made a partially independent contribution. The SNP rs1789891 is in complete linkage disequilibrium with the functional Arg272Gln variant (P = 1.24E–7, OR = 1.31) of the ADH1C gene, which has been reported to modify the rate of ethanol oxidation to acetaldehyde in vitro. A polygenic score‐based approach produced a significant result (P = 9.66E–9). This is the first GWAS of AD to provide genome‐wide significant support for the role of the ADH gene cluster and to suggest a polygenic component to the etiology of AD. The latter result may indicate that many more AD susceptibility genes still await identification.
The time interval between kidney and pancreas transplantation and the clinical outcomes of pancreas after kidney transplantation
Authors: Luan Fu L. , Kommareddi Mallika , Cibrik Diane M. , Samaniego Millie , Ojo Akinlolu O.
Published: October 2011

Luan FL, Kommareddi M, Cibrik DM, Samaniego M, Ojo AO. The time interval between kidney and pancreas transplantation and the clinical outcomes of pancreas after kidney transplantation.  Clin Transplant 2011 DOI: 10.1111/j.1399‐0012.2011.01519.x.  © 2011 John Wiley & Sons A/S.

Abstract:  Pancreas after kidney (PAK) transplantation is one of the accepted pancreas transplant modalities. We studied the impact of time interval between kidney and pancreas transplantation on the outcomes of PAK transplantation. Using OPTN/SRTR data, we included 1853 PAK transplants performed between 1996 and 2005 with follow‐up until November 1, 2008. Kaplan–Meier survival and multivariate Cox regression analyses were performed using the time interval between kidney and pancreas transplantation either as a categorical (less than one yr, between one and less than three yr, and greater than or equal to three yr) or as a continuous variable (months) to assess kidney graft and patient survival. Patients who received a pancreas transplant three yr or later after kidney transplantation had higher risk of death‐censored kidney graft loss (HR 1.56, 95% CI 1.04, 2.32, p = 0.03). Each month beyond three yr between kidney and pancreas transplantation incurred 1% higher risk of subsequent death‐censored kidney graft loss (HR 1.01, 95% CI 1.001, 1.02, p = 0.03). In conclusion, time interval between pancreas and kidney transplantation is an independent risk factor of kidney graft loss following pancreas transplantation. Shortening the time interval between pancreas and kidney transplantation to less than three yr may reduce the risk of kidney graft loss in qualified PAK transplant candidates.
PGC‐1β Modulates the Expression of Genes Involved in Mitochondrial Function and Adipogenesis During Preadipocyte Differentiation
Authors: Ji H , Lu R‐H , Chang Z‐G , Su S‐S , Yang G‐S
Published: October 2011

Contents

This study determined the expression of genes involved in mitochondrial function and adipogenesis at mRNA and protein levels by transfecting rat differentiating preadipocytes with siRNA/Lipofectamine complex and pcDNA‐PGC‐1β (peroxisome proliferator‐activated receptor‐γ coactivator‐1β)/Lipofectamine complex, respectively, to further elucidate the role of PGC‐1β in white preadipocyte differentiation. The results showed that the transfection of PGC‐1β siRNA inhibited the expressions of mitochondrial genes malate dehydrogenase, carnitine palmitoyltransferase 1, nuclear respiratory factor 1, ATP synthesis, adipocyte differentiation key transcription factor peroxisome proliferator‐activated receptor‐γ, sterol regulatory element binding protein 1c and fatty acid synthetase, whereas the triglyceride synthesis was retarded (p < 0.05). Furthermore, overexpression of PGC‐1β up‐regulated the expressions of adipogenic and mitochondrial biosynthetic marker genes and promoted triglyceride accumulation during 3T3‐L1 adipocyte differentiation. These observations suggest that PGC‐1β modulates the expression of mitochondrial function and adipogenesis‐related genes and affects white preadipocyte differentiation.
CHIME monazite dating as a tool to detect polymetamorphism in high‐temperature metamorphic terrane: Example from the Aoyama area, Ryoke metamorphic belt, Southwest Japan
Authors: KAWAKAMI TETSUO , SUZUKI KAZUHIRO
Published: October 2011

Chemical Th–U–total Pb isochron method (CHIME) monazite dating was carried out for pelitic–psammitic migmatites and the Ao granite (one of the Younger Ryoke granites) from the Aoyama area, Ryoke metamorphic belt, Southwest Japan. The Ao granite gives an unequivocal age of 79.8 ± 3.9 Ma. The monazite grains in migmatites yield an age of 96.5 ± 1.9 Ma with rims and patchy domains of 83.5 ± 2.4 Ma. The 83.5 ± 2.4‐Ma overprinting on migmatites over the garnet–cordierite zone suggests a wide and combined effect of thermal input and fluid activity on the monazite grains caused by the contact metamorphism by the Younger Ryoke granites including the Ao granite. This contact metamorphism has not been detected from the major metamorphic mineral assemblage previously, possibly because the migmatites already possessed the high‐temperature mineral assemblage before the granite intrusions and were immune from contact metamorphism in terms of major metamorphic minerals. However, monazite records contact metamorphism clearly. Therefore, the field mapping of the CHIME monazite age is a powerful tool for recognition of polymetamorphism in high‐temperature metamorphic terrains where later thermal effects can not be easily detected by the growth of new major metamorphic minerals.
Psychiatric complications of treatment with corticosteroids: Review with case report
Authors: Kenna Heather A. , Poon Amy W. , de los Angeles C. Paula , Koran Lorrin M.
Published: October 2011

Corticosteroids are widely used in modern medicine but can result in troubling psychiatric side‐effects. Physicians and other medical professionals should be aware of the potential for these side‐effects, possible means of prevention, and efficacious treatments. Herein, we review adult case report data published during the past quarter‐century on adverse corticosteroid‐induced psychiatric effects, and present a case of corticosteroid‐induced psychotic depression. PubMed and PsychLit databases were searched using the terms ‘corticosteroids’, ‘steroids’, and the generic names of corticosteroid medications with terms for psychiatric symptoms or syndromes, including psychosis, mania, hypomania, depression, apathy, anxiety, panic, depersonalization, delirium, confusion, hallucinations, delusions, paranoia, cognitive impairment and dementia. Fifty‐five cases and a number of clinical trials investigating the incidence and treatment of these psychiatric symptoms and syndromes were identified. Data on incidence, drug dose, risk factors, course of illness and treatment (when present) were tabulated. We conclude that the cumulative data indicate that psychiatric complications of corticosteroid treatment are not rare and range from clinically significant anxiety and insomnia, to severe mood and psychotic disorders, delirium and dementia. While tapering or discontinuation of the corticosteroid treatment may remedy these adverse side‐effects, psychotropic medications are often required because of the medical necessity of the corticosteroid or the severity of the psychiatric symptom. Further studies are needed to better understand the deleterious psychiatric effects associated with corticosteroids.
Psychosocial and psychiatric aspects of suicide completers with unmanageable debt: A psychological autopsy study
Authors: Kameyama Akiko , Matsumoto Toshihiko , Katsumata Yotaro , Akazawa Masato , Kitani Masahiko , Hirokawa Seiko , Takeshima Tadashi
Published: October 2011

This study examined the psychosocial and psychiatric features of 16 Japanese suicide completers with unmanageable debt compared with 23 suicide completers without such debt at time of death, using a psychological autopsy method. The individuals with unmanageable debt were more likely to have been self‐employed and to have experienced divorce. They were less likely to have engaged in help‐seeking behavior, despite having mental health problems. Our findings suggest that providing comprehensive support and promoting help‐seeking behavior may be important for suicide prevention in middle‐aged men.
Synchronous bilateral urothelial cancer in a kidney recipient
Authors: Nakazawa Ryuto , Miyano Satetsu , Sasaki Hideo , Kudo Hiroya , Kimura Kenjiro , Chikaraishi Tatsuya
Published: October 2011

Synchronous bilateral urothelial cancer is very rare. We report a 25‐year‐old male kidney recipient with Alport syndrome who developed bilateral synchronous urothelial cancer after transplantation. At the age of 16 this patient was referred to our clinic for a kidney transplantation. A living related donor kidney transplantation was performed with cyclosporin‐based quadruple immunosuppression. He experienced no acute rejection and his graft function was excellent after transplantation. Nine years after transplantation, he complained of asymptomatic gross hematuria and was diagnosed as having a bilateral urothelial cancer in the native upper urinary tracts. A bilateral total nephroureterectomy was undertaken, and the postoperative pathological diagnosis was advanced bilateral urothelial carcinoma. The patient received adjuvant gemcitabine plus cisplatin chemotherapy at a cisplatin dosage reduced by 50%. After 4 years of follow‐up, he is alive with a functioning graft and no evidence of recurrence.
Carbonic anhydrase‐related protein VIII is expressed in rod bipolar cells and alters signaling at the rod bipolar to AII‐amacrine cell synapse in the mammalian retina
Authors: Puthussery T. , Gayet‐Primo J. , Taylor W. R.
Published: October 2011

Mutation of the gene encoding carbonic anhydrase‐related protein VIII (CAVIII) results in motor coordination deficits in mice and humans, due to loss of this protein in Purkinje cells of the cerebellum. Recent studies have indicated that the CAVIII gene, Car8, is also expressed in rod bipolar cells (RBCs), a critical glutamatergic neuron for scotopic vision. We investigated the localization of CAVIII in the mouse and macaque retina, and utilized the wdl mouse, which has a null mutation in the Car8 gene, to determine how the loss of CAVIII affects retinal signaling. CAVIII immunoreactivity was observed in RBCs, with particularly high staining intensity in the axon terminals. In addition, weaker staining was observed in a subset of cone bipolar cells and γ‐aminobutyric acid (GABA)ergic amacrine cells. Light‐evoked current and voltage responses of RBCs were not altered in the wdl mutant. However, light‐evoked current responses from the AII‐amacrine cell, a postsynaptic partner at the RBC ribbon synapse, were significantly larger, and more prolonged than in control mice. These changes could not be attributed to alterations in calcium current activation or inactivation, or to changes in the density of RBCs. Furthermore, no gross synaptic alterations were evident in the wdl mutant at the light or ultrastructural level. These data provide evidence that the CAVIII protein, which is highly conserved in vertebrates, is selectively expressed within neural circuits, and may be important for modulating retinal neurotransmission.
Postnatal development of tyrosine hydroxylase mRNA‐expressing neurons in mouse neostriatum
Authors: Masuda Masao , Miura Masami , Inoue Ritsuko , Imanishi Michiko , Saino‐Saito Sachiko , Takada Masahiko , Kobayashi Kazuto , Aosaki Toshihiko
Published: October 2011

The striatum harbors a small number of tyrosine hydroxylase (TH) mRNA‐containing GABAergic neurons that express TH immunoreactivity after dopamine depletion, some of which reportedly resembled striatal medium spiny projection neurons (MSNs). To clarify whether the TH mRNA‐expressing neurons were a subset of MSNs, we characterized their postnatal development of electrophysiological and morphological properties using a transgenic mouse strain expressing enhanced green fluorescent protein (EGFP) under the control of the rat TH gene promoter. At postnatal day (P)1, EGFP‐TH+ neurons were present as clusters in the striatum and, thereafter, gradually scattered ventromedially by P18 without regard to the striatal compartments. They were immunonegative for calbindin, but immunopositive for enkephalin (54.5%) and dynorphin (80.0%). Whole‐cell patch‐clamp recordings revealed at least two distinct neuronal types, termed EGFP‐TH+ Type A and B. Whereas Type B neurons were aspiny and negative for the MSN marker dopamine‐ and cyclic AMP‐regulated phosphoprotein of 32 kDa (DARPP‐32), Type A neurons constituted 75% of the EGFP+ cells, had dendritic spines (24.6%), contained DARPP‐32 (73.6%) and a proportion acquired TH immunoreactivity after injections of 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine and 3‐nitropropionic acid. The membrane properties and N‐methyl‐d‐aspartate : non‐N‐methyl‐d‐aspartate excitatory postsynaptic current ratio of Type A neurons were very similar to MSNs at P18. However, their resting membrane potentials and spike widths were statistically different from those of MSNs. In addition, the calbindin‐like, DARPP‐32‐like and dynorphin B‐like immunoreactivity of Type A neurons developed differently from that of MSNs in the matrix. Thus, Type A neurons closely resemble MSNs, but constitute a cell type distinct from classical MSNs.
Phylogenetic density dependence and environmental filtering predict seedling mortality in a tropical forest
Authors: Paine C. E. Timothy , Norden Natalia , Chave Jérôme , Forget Pierre‐Michel , Fortunel Claire , Dexter Kyle G. , Baraloto Christopher
Published: October 2011

Ecology Letters (2011) 14: 34–41

Negative density dependence (NDD) and environmental filtering (EF) shape community assembly, but their relative importance is poorly understood. Recent studies have shown that seedling’s mortality risk is positively related to the phylogenetic relatedness of neighbours. However, natural enemies, whose depredations often cause NDD, respond to functional traits of hosts rather than phylogenetic relatedness per se. To understand the roles of NDD and EF in community assembly, we assessed the effects on seedling mortality of functional similarity, phylogenetic relatedness and stem density of neighbouring seedlings and adults in a species‐rich tropical forest. Mortality risks increased for common species when their functional traits departed substantially from the neighbourhood mean, and for all species when surrounded by close relatives. This indicates that NDD affects community assembly more broadly than does EF, and leads to the tentative conclusion that natural enemies respond to phylogenetically correlated traits. Our results affirm the prominence of NDD in structuring species‐rich communities.
Beyond the Venn diagram: the hunt for a core microbiome
Authors: Shade Ashley , Handelsman Jo
Published: October 2011

Discovering a core microbiome is important for understanding the stable, consistent components across complex microbial assemblages. A core is typically defined as the suite of members shared among microbial consortia from similar habitats, and is represented by the overlapping areas of circles in Venn diagrams, in which each circle contains the membership of the sample or habitats being compared. Ecological insight into core microbiomes can be enriched by 'omics approaches that assess gene expression, thereby extending the concept of the core beyond taxonomically defined membership to community function and behaviour. Parameters defined by traditional ecology theory, such as composition, phylogeny, persistence and connectivity, will also create a more complex portrait of the core microbiome and advance understanding of the role of key microorganisms and functions within and across ecosystems.
Global network of specific virus–host interactions in hypersaline environments
Authors: Atanasova Nina S. , Roine Elina , Oren Aharon , Bamford Dennis H. , Oksanen Hanna M.
Published: October 2011

Hypersaline environments are dominated by archaea and bacteria and are almost entirely devoid of eukaryotic organisms. In addition, hypersaline environments contain considerable numbers of viruses. Currently, there is only a limited amount of information about these haloviruses. The ones described in detail mostly resemble head‐tail bacteriophages, whereas observations based on direct microscopy of the hypersaline environmental samples highlight the abundance of non‐tailed virus‐like particles. Here we studied nine spatially distant hypersaline environments for the isolation of new halophilic archaea (61 isolates), halophilic bacteria (24 isolates) and their viruses (49 isolates) using a culture‐dependent approach. The obtained virus isolates approximately double the number of currently described archaeal viruses. The new isolates could be divided into three tailed and two non‐tailed virus morphotypes, suggesting that both types of viruses are widely distributed and characteristic for haloarchaeal viruses. We determined the sensitivity of the hosts against all isolated viruses. It appeared that the host ranges of numerous viruses extend to hosts in distant locations, supporting the idea that there is a global exchange of microbes and their viruses. It suggests that hypersaline environments worldwide function like a single habitat.