Abstract
As the reliability of malignant hyperthermia normal in vitro contracture test results has been questioned, this study set out to determine the reliability of malignant hyperthermia normal results in New Zealand. Three hundred and twenty-nine anaesthetics were administered to malignant hyperthermia no...
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PMID: 21970134
PDF is available here.
Jean-Baptiste JB Rivière,
Siriram S Ramalingam,
Valérie V Lavastre,
Masoud M Shekarabi,
Sébastien S Holbert,
Julie J Lafontaine,
Myriam M Srour,
Nancy N Merner,
Daniel D Rochefort,
Pascale P Hince,
Rébecca R Gaudet,
Anne-Marie AM Mes-Masson,
Jonathan J Baets,
Henry H Houlden,
Bernard B Brais,
Garth A GA Nicholson,
Hilde H Van Esch,
Shahriar S Nafissi,
Peter P De Jonghe,
Mary M MM Reilly,
Vincent V Timmerman,
Patrick A PA Dion and
Guy A GA Rouleau
Abstract
We found that KIF1A, an axonal transporter of synaptic vesicles, interacts with the domain encoded by the HSN2 exon. In parallel to this screen, we performed genome-wide homozygosity mapping in a consanguineous Afghan family affected by HSANII and identified a unique region of homozygosity located o...
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PMID: 21820098
PDF is available here.
Lenka L Nosková,
Viktor V Stránecký,
Hana H Hartmannová,
Anna A Přistoupilová,
Veronika V Barešová,
Robert R Ivánek,
Helena H Hůlková,
Helena H Jahnová,
Julie J van der Zee,
John F JF Staropoli,
Katherine B KB Sims,
Jaana J Tyynelä,
Christine C Van Broeckhoven,
Peter C G PC Nijssen,
Sara E SE Mole,
Milan M Elleder and
Stanislav S Kmoch
Abstract
We carried out linkage mapping, gene-expression analysis, exome sequencing, and candidate-gene sequencing in affected individuals from 20 families and/or individuals with simplex cases; we identified in five individuals one of two disease-causing mutations, c.346_348delCTC and c.344TG, in DNAJC5 enc...
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PMID: 21820099
PDF is available here.
Abstract
We reported one of these families previously in a paper on Wolcott-Rallison syndrome (WRS). WRS is characterized by increased apoptotic cell death as part of an uncontrolled unfolded protein response. Increased apoptosis has been shown to be a cause of microcephaly in animal models. An autopsy spec...
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PMID: 21835305
PDF is available here.
Leen L Abu-Safieh,
Emad B EB Abboud,
Hisham H Alkuraya,
Hanan H Shamseldin,
Shamsa S Al-Enzi,
Lama L Al-Abdi,
Mais M Hashem,
Dilek D Colak,
Abdullah A Jarallah,
Hala H Ahmad,
Steve S Bobis,
Georges G Nemer,
Fadi F Bitar and
Fowzan S FS Alkuraya
Abstract
We show that an autosomal-recessive syndrome that consists of progressive retinal arterial macroaneurysms and supravalvular pulmonic stenosis is caused by mutation of IGFBP7. Consistent with the recently established inhibitory role of IGFBP7 on BRAF signaling, the BRAF/MEK/ERK pathway is upregulated...
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PMID: 21835307
PDF is available here.
Abstract
We identified AKR1C2 mutations with sex-limited recessive inheritance in four 46,XY individuals with disordered sexual development (DSD). Analysis of the inheritance of microsatellite markers excluded other candidate loci. Affected individuals had moderate to severe undervirilization at birth; when...
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PMID: 21802064
PDF is available here.
Abstract
Based on a Danish birth cohort (n=9182), a high risk group of sons of alcoholic fathers (HR, n=223) and a low risk group of sons without parental alcoholism (LR, n=106) has been followed prospectively from pregnancy to age 40. The HR sons are characterized by a high prevalence of alcohol dependence (...
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PMID: 21827728
PDF is available here.
Abstract
To assess the degree of relationship among individuals with hemangiomas and to evaluate the relative risk (RR) for family members of individuals with hemangiomas.
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PMID: 21844408
PDF is available here.
Abstract
Relapse after hematopoietic stem cell transplantation (HSCT) is a stressful event for patients and families, but provides an opportunity for education and psychosocial support. Little available research satisfies the needs of transplantation recipients at this critical time in the ca...
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PMID: 21810574
PDF is available here.
Abstract
We measured the frequency of perceived stigma and discrimination among caregivers of veterans with TBI and examined whether perceived stigma and discrimination are associated with caregiver strain, social isolation, depression, and anxiety.
Seventy caregivers of veterans with TBI com...
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PMID: 21723524
PDF is available here.
Abstract
Little is known about factors associated with treatment initiation in overweight and obese adolescents. This study investigated parent-reported adolescent demographic, adolescent health, and parent motivation factors associated with initiation of a family-based adolescent overweight...
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PMID: 21151019
PDF is available here.
Abstract
The study carried out made it possible to exclude linkage of all loci for 3 families, nevertheless the linkage of one family to the locus 1p21.1-p13.3 remains possible. Conclusion: The absence of linkage of 4 Algerian families with autosomal recessive mental retardation to 3 well known loci, confirm...
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PMID: 21557185
PDF is available here.
Abstract
Genotyping and linkage analysis excluded linkage of the GRIK2 gene and TUSC3 gene. Conclusion: Our results confirm the extreme genetic heterogeneity of NSAR-MR....
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PMID: 21557188
PDF is available here.
Holly N HN Cukier,
Daria D Salyakina,
Sarah F SF Blankstein,
Joycelyn L JL Robinson,
Stephanie S Sacharow,
Deqiong D Ma,
Harry H HH Wright,
Ruth K RK Abramson,
Ramkumar R Menon,
Scott M SM Williams,
Jonathan L JL Haines,
Michael L ML Cuccaro,
John R JR Gilbert and
Margaret A MA Pericak-Vance
Abstract
We report autistic first cousins who carry two microduplications concordant with disease. Both duplications were inherited maternally and found to be identical by descent. The first is an approximately 10,000 base pair microduplication within the minimal region on 15q24 that falls across a single ge...
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PMID: 21480499
PDF is available here.
Abstract
Information obtained at around age 8 years was used to construct a model that predicted persistence of, and recovery from, stuttering several years later. A logistic regression model that classified children as persistent or recovered at the teenage years using stuttering history and symptom informat...
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PMID: 21336144
PDF is available here.
Abstract
Emotions suffuse much of the language employed by students of animal behavior--from "social bonding" to "alarm calls"--yet are carefully avoided as an explicit topic in scientific discourse. Given the increasing interest in human emotional intelligence and the explicit attention in neuroscience to th...
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PMID: 21486301
PDF is available here.
Abstract
We present a family with mild developmental delay and a duplication (6)(p22.2). Array CGH analyses revealed this 0.7 Mb duplication in all three patients, spanning candidate genes ALDH5A1, DCDC2, and KIAA0319. Results were confirmed by MLPA analysis of the dyslexia genes DCDC2 and KIAA0319. Of int...
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PMID: 21438145
PDF is available here.
Abstract
Blacks comprise 12.3% of the U.S. population and only 4.6% of registered nurses nationally. Moreover, Blacks have the highest percentage of nongraduates among nursing students compared with other U.S. racial/ethnic groups. This descriptive qualitative study examined the perceptions and experiences th...
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PMID: 21417190
PDF is available here.
Tod Fullston,
Bronte Gabb,
David Callen,
Reinhard Ullmann,
Erica Woollatt,
Sharon Bain,
Hilger H Ropers,
Matt Cooper,
David Chandler,
Kim Carter,
Assen Jablensky,
Luba Kalaydjieva and
Jozef Gecz
Abstract
We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. A previously unreported balanced t(9;17)(q33.2;q25.3) translocation was observed in two schizophrenia-affected members of a small family with diverse psychiatric disorders. The p...
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PMID: 21302349
PDF is available here.
Abstract
To analyze attitude of patients on the liver transplant waiting list toward living donation (LD).
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PMID: 21434713
PDF is available here.
Abstract
Two matters that have a significant presence in the contemporary Dutch assisted dying debate, are the nature of the suffering required for an assisted death to be lawful, and the issue of who can lawfully assist. This article explores whether the lawful medical assisted dying model is too restrictive...
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PMID: 21644436
PDF is available here.
Abstract
We performed a cross-sectional study of Northern Manhattan Study participants who were free of clinical cardiovascular disease and had obtained transthoracic echocardiograms (n=2021) and a baseline questionnaire on social habits. Social isolation was defined as the lack of friendship networks (knowi...
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PMID: 21295196
PDF is available here.
Abstract
Facing the lowest birth rates in its history, Taiwan is increasingly recognizing the centrality of children's healthcare needs to effective family care. The World Health Organization's goal of health for all emphasizes health promotion. However, little research attention has been given to how familie...
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PMID: 21328201
PDF is available here.
Beate B Luxembourg,
Daniel D Delev,
Christof C Geisen,
Michael M Spannagl,
Manuela M Krause,
Wolfgang W Miesbach,
Christine C Heller,
Frauke F Bergmann,
Ursula U Schmeink,
Ralf R Grossmann,
Edelgard E Lindhoff-Last,
Erhard E Seifried,
Johannes J Oldenburg and
Anna A Pavlova
Abstract
Antithrombin (AT) is the most important physiological inhibitor of coagulation proteases. It is activated by glycosaminoglycans such as heparin. Hereditary antithrombin deficiency is a rare disease that is mainly associated with venous thromboembolism. So far, more than 200 different mutations in the...
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PMID: 21264449
PDF is available here.
Abstract
Graves' disease (GD) is the leading cause of hyperthyroidism and thyroid eye disease inherited as a complex trait. Although geoepidemiology studies showed relatively higher prevalence of GD in Asians than in Caucasians, previous genetic studies were contradictory concerning whether and/or which human...
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PMID: 21307958
PDF is available here.
Abstract
We aimed to examine these associations in one of the largest studies to date using data from a low-middle income country that has recently undergone a major political and economic transition....
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PMID: 21298034
PDF is available here.
Abstract
We suggest that genetic relatedness and its associated kinship structure are a potential source of stability in primate social groups as kinship structure is an important organizing principle in many animal societies. We investigated the effect of average genetic relatedness per matrilineal family o...
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PMID: 21298105
PDF is available here.
Abstract
The Patient- and Family-Centered Care (PFCC) method and practice has been developed over the past 4 years as a means of improving care experiences by viewing all aspects of a patient's care experience through the eyes of the patient and family. One of the most powerful components of the method, eval...
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PMID: 21157240
PDF is available here.
Abstract
Cardiovascular risk increases with the presence of both metabolic syndrome (MetS) and hypertension (HTN). Although the adiponectin (ADIPOQ) gene has been reported to be involved in MetS, its association with HTN remained undetermined. This study aimed to investigate the association o...
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PMID: 21637762
PDF is available here.
Abstract
This study investigates the role of familism values in fostering socialization experiences that promote prosocial behavioral tendencies among Mexican American adolescents. Two hundred and four Mexican American mothers and their adolescent children (104 girls, age M = 10.91 years) com...
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PMID: 21341902
PDF is available here.
Abstract
Our Children to Excellence (PACE). A pilot study conducted with 124 parents of preschoolers (mostly recent Mexican immigrants) provides preliminary evidence for the community acceptability and efficacy of CANNE. Eighty-eight of the 124 parents who enrolled in the program attended one or more of the...
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PMID: 21341903
PDF is available here.
Abstract
I will comment on the potential of evangelicalism's influence to reach into various areas of society, a claim that has often been contested in the existing historiography. I will explore the manner by which religious belief interacted with medico-scientific views pertaining to diet; and how it penet...
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PMID: 21954487
PDF is available here.
Abstract
Professional and patient groups have called for increased participation of patients' informal support networks in chronic disease care, as a means to improve clinical care and self-management. Little is known about the current level of participation of family and friends in the physician visits of a...
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PMID: 21102357
PDF is available here.
Abstract
To explore primary care nurses' reported behaviour in consultations and their knowledge, beliefs and attitudes in relation to traditional and complementary approaches (TCA) for children.
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PMID: 21706977
PDF is available here.
Abstract
Physicians who complete combined residency training in internal medicine and pediatrics (med-peds) have a variety of career options after training. Little is known about career transitions among this group or among other broadly trained physicians.
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PMID: 21901912
PDF is available here.
Abstract
We review significant recent initiatives to improve access to behavioral health services in the VA health system....
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PMID: 21678688
PDF is available here.
Abstract
The Governor's Focus on Servicemembers, Veterans, and Their Families is a coalition of federal, state, and local agencies and professional and consumer organizations. Its goal is to develop and maximize public and private services and supports for service members in active and reserv...
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PMID: 21678690
PDF is available here.
Abstract
We conducted a large-scale questionnaire survey on the QOL in 5,122 PWE/their families who were members of the Japanese Epilepsy Association in 2006 and 1,701 PWE/their families and 502 attending physicians responded. Out of the responders, 107 matched pairs of PWE aged under 16 years (with an adult...
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PMID: 21400929
PDF is available here.
Abstract
Research in Montreal's St-Jean-de-Dieu Asylum archives has revealed a number of letters from family members and local physicians pleading for asylum care for married women between 1890 and 1921. When added to other admission documents in patients' medical files, these letters allow a...
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PMID: 21329143
PDF is available here.
Abstract
Choices of urban, suburban or rural residential environments have often been studied from a life-course perspective. In this paper, an examination is made of the influence of childhood experiences and of residential environment choices of family members outside the household. It is a...
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PMID: 21954484
PDF is available here.
Abstract
Forty-six patients and 48 family members participated in the study. The pre-training score was 3.6 (on a scale of 1 to 4). After watching the animation, there was no significant increase (0.08±0.5) for the patient group, but the family member group showed significant improvement (0.21±0.6, P=.0309...
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PMID: 21167326
PDF is available here.
Abstract
The need for patient-centeredness in care delivery has been articulated for decades, yet meaningful progress toward patient-centered healthcare has been hobbled by the lack of a replicable patient-centered care model and method. The authors describe the patient- and family-centered care method, buil...
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PMID: 21084890
PDF is available here.
Abstract
It is well established that individuals with anxiety disorders experience significant impairments in social and occupational functioning. However, the impact of anxiety disorders on family members has not been adequately studied. The objective of the present study was to examine the burden experienc...
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PMID: 21135638
PDF is available here.
Abstract
This integrative review summarizes current research on resilience in adult family members who have a relative with a diagnosed mental disorder that is considered serious. Within the context of resilience theory, studies identifying risk/vulnerability and positive/protective factors in family members...
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PMID: 20971340
PDF is available here.