bluuebunny/crossref_metadata_2025_split huggingface dataset:
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
Authors: Zhang J , Bao X , Cao G , Jiang S , Zhu X , Lu H , Jia L , Pan H , Fehr S , Davis M , Leonard H , Ravine D , Wu X 
Published: December 2011

Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M, Leonard H, Ravine D, Wu X. What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study were to provide a precise estimate of the parental origin of MECP2 mutations using a large Chinese sample and to assess whether parental origin varied by mutation type. The parental origin was paternal in 84/88 [95.5%, (95% confidence interval 88.77–98.75)] of sporadic Chinese cases. However, in a pooled sample including data from the literature the spectrum of mutations occurring on maternally and paternally derived chromosomes differed significantly. The excess we found of ‘single base pair gains or losses' on maternally derived MECP2 gene alleles suggests that this mutational category is associated with an elevated risk of gonadal mosaicism, which has implications for genetic counseling.
Organ transplantation from a donor colonized with a multidrug‐resistant organism: a case report
Authors: Goldberg E. , Bishara J. , Lev S. , Singer P. , Cohen J. 
Published: December 2011

Abstract:The number of intensive care unit patients with infections caused by multidrug‐resistant organisms is increasing in most developed countries. We report the case of a deceased multiorgan donor, who was an asymptomatic carrier of carbapenem‐resistant Klebsiella pneumoniae (CR‐KP) in the respiratory tract, a condition that was not diagnosed before organ harvesting and transplantation. The outcome of the 2 kidney recipients, the liver recipient, and 1 of the lung recipients was uneventful; in particular, no evidence of infection transmission or adverse graft outcomes was noted. The other lung recipient had a complicated postoperative course and, 4 weeks post transplantation, he developed a bacteremic pneumonia with CR‐KP from which he subsequently died. These results suggest that, in well defined conditions, organs from donors who are CR‐KP positive may be considered for transplantation.
Donor‐derived Coccidioides immitis fungemia in solid organ transplant recipients
Authors: Blodget E. , Jan Geiseler P. , Larsen R.A. , Stapfer M. , Qazi Y. , Petrovic L.M. 
Published: December 2011

Abstract:We report disseminated coccidioidomycosis in 3 transplant recipients from a donor in an endemic area found to have unrecognized meningeal coccidioidomycosis. All 3 transplant recipients presented within 3 weeks of receipt of their organ. Only 1 organ recipient survived the acute presentation of coccidioidomycosis. Serologic testing for Coccidioides immitis infection should be considered for organ donors residing in endemic areas.
Pulse cyclophosphamide induction treatment in Thai children with diffuse proliferative lupus nephritis
Authors: OPASTIRAKUL SAUWALAK , CHARTAPISAK WATTANA 
Published: December 2011

ABSTRACT:Aim:  To report the effectiveness of pulse cyclophosphamide induction therapy and to identify predictors for unresponsiveness to treatment in Thai children.Methods:  Children with biopsy‐proven diffuse proliferative lupus nephritis admitted to Chiang Mai University hospital between 2001 and 2006 were retrospectively studied. Patients received a test dose of 750 mg/m2 at the first month followed by six cycles of monthly cyclophosphamide (IVCY) at a dose of 1 g/m2 (maximum 1 g) as induction therapy. Responsiveness to treatment, defined as urinary protein to creatinine ratio of less than 0.3 with normalization of C3 level and clinical remission, was assessed at the end of the induction period. Gender, age at onset, duration of disease before treatment, hypertension, clinical nephrotic syndrome, amount of proteinuria, serum creatinine, creatinine clearance, serum C3 level and crescentic formation were compared between responsive and nonresponsive groups. Maintenance therapy with quarterly pulse IVCY or Azathioprine or Mycophenolate mofetil was given for 18–24 months after remission.Results:  Twenty nine patients with a mean age of 10.3 ± 2.6 years were studied. Hypertension, microscopic haematuria and nephrotic‐range proteinuria were seen in 66%, 86% and 60% of the patients, respectively. Forty‐one per cent of biopsies showed cellular or fibrocellular crescents. Twenty patients (69%) achieved remission at the end of induction therapy. There were no significant differences in all parameters studied between responsive and nonresponsive groups. The relapse rate after maintenance therapy was 58.8%.Conclusion:  Our results show that pulse cyclophosphamide is an effective regimen for induction therapy in children with diffuse proliferative glomerulonephritis. No definite predictor for unresponsiveness was detected in this study.
Change in accuracy of recognizing psychiatric disorders by non‐psychiatric physicians: Five‐year data from a psychiatric consultation–liaison service
Authors: Su Jian‐An , Tsai Ching‐Shu , Hung Tai‐Hsin , Chou Shih‐Yong 
Published: December 2011

Aim:  Psychiatric disorders are easily underestimated and under‐recognized by physicians. The aim of the present study was to investigate the change in accuracy of recognizing psychiatric symptoms.Methods:  Consecutive 5‐year consultation–liaison data were collected and patients with one of the five common psychiatric diagnoses, including depressive disorders, substance use disorders, delirium, anxiety disorders and psychotic disorders, were chosen for analysis. The primary care physician's initial impression of a psychiatric diagnosis was recorded based on their reason for referral on the referral sheets. Accurate recognition was defined as matching of the physician's initial impression with the psychiatrist's final diagnosis. Mentioning the core symptoms of psychiatric diagnostic criteria or common synonyms would be considered as correct recognition.Results:  The overall accuracy of recognition was 41.5% and there was no significant change during this 5‐year period. Substance use disorders were the one diagnosis with the highest agreement, followed by delirium, depressive disorders, anxiety disorders, and psychotic disorders. As for the factors associated with accurate recognition, male patients or those with multiple physical illnesses were more likely to have their psychiatric symptoms recognized correctly.Conclusions:  Without comprehensive postgraduate psychiatric education, the accuracy of recognizing psychiatric symptoms does not improve year by year. Education should focus on common psychiatric problems among medical inpatients, especially those easily misdiagnosed, such as depression and delirium.
Hyperhomocysteinemia in Tunisian bipolar I patients
Authors: Ezzaher Asma , Mouhamed Dhouha Haj , Mechri Anwar , Omezzine Asma , Neffati Fadoua , Douki Wahiba , Bouslama Ali , Gaha Lotfi , Najjar Mohamed Fadhel 
Published: December 2011

Aims:  The aim of the present study was to investigate hyperhomocysteinemia in Tunisian bipolar I patients according to 5,10‐methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism.Methods:  The subjects consisted of 92 patients with bipolar I disorder diagnosed according to DSM‐IV, and 170 controls. Plasma total homocysteine, folate and vitamin B12 were measured. MTHFR C677T polymorphism was determined by polymerase chain reaction–restriction fragment length polymorphism.Results:  Compared with controls, patients had a significantly higher homocysteine level (16.4 ± 9.8 vs 9.6 ± 4.5 µmol/L; P < 0.001) and a significantly lower folate level (3.2 ± 0.9 vs 6.5 ± 3.2 µg/L; P < 0.001). C677T MTHFR polymorphism genotype frequencies were in Hardy–Weinberg equilibrium. After adjustment for MTHFR C677T genotypes, hypofolatemia, hypovitamin B12 and for potential confounding factors, the odds ratio (OR) of hyperhomocysteinemia associated with bipolar disorder remained significant (OR, 5.53; 95% confidence interval: 1.92–15.86; P = 0.001). In patients, there was no significant change in hyperhomocysteinemia, hypofolatemia and hypovitamin B12 with regard to the clinical and therapeutic characteristics, whereas the highest prevalence of hyperhomocysteinemia was found in depressive patients and when illness duration was >12 years. Hypofolatemia was seen in all patients on lithium and in the majority of patients on carbamazepine, and the highest prevalence of hypovitamin B12 was noted in patients taking carbamazepine.Conclusion:  Hyperhomocysteinemia was more frequent in bipolar I patients independent of C677T polymorphism. Patients had reduced levels of folate, which modulates homocysteine metabolism. Indeed, this finding indicates that folate supplementation may be appropriate for bipolar patients with hyperhomocysteinemia.
Recognition of facial emotion and perceived parental bonding styles in healthy volunteers and personality disorder patients
Authors: Zheng Leilei , Chai Hao , Chen Wanzhen , Yu Rongrong , He Wei , Jiang Zhengyan , Yu Shaohua , Li Huichun , Wang Wei 
Published: December 2011

Aims:  Early parental bonding experiences play a role in emotion recognition and expression in later adulthood, and patients with personality disorder frequently experience inappropriate parental bonding styles, therefore the aim of the present study was to explore whether parental bonding style is correlated with recognition of facial emotion in personality disorder patients.Methods:  The Parental Bonding Instrument (PBI) and the Matsumoto and Ekman Japanese and Caucasian Facial Expressions of Emotion (JACFEE) photo set tests were carried out in 289 participants.Results:  Patients scored lower on parental Care but higher on parental Freedom Control and Autonomy Denial subscales, and they displayed less accuracy when recognizing contempt, disgust and happiness than the healthy volunteers. In healthy volunteers, maternal Autonomy Denial significantly predicted accuracy when recognizing fear, and maternal Care predicted the accuracy of recognizing sadness. In patients, paternal Care negatively predicted the accuracy of recognizing anger, paternal Freedom Control predicted the perceived intensity of contempt, maternal Care predicted the accuracy of recognizing sadness, and the intensity of disgust.Conclusions:  Parenting bonding styles have an impact on the decoding process and sensitivity when recognizing facial emotions, especially in personality disorder patients.
Views and experiences of mental health nurses working with undergraduate assistants in nursing in an acute mental health setting
Authors: Cleary Michelle , Horsfall Jan , O'Hara‐Aarons Maureen , Mannix Judy , Jackson Debra , Hunt Glenn E. 
Published: December 2011

ABSTRACTUndergraduate nurses are employed as assistants in nursing (AIN) in inpatient mental health settings; however, there is a paucity of published research exploring registered nurses' (RN) views about the AIN role in these settings. This qualitative study documents the views and experiences of RN working with undergraduate AIN. Fifty structured face‐to‐face interviews were analysed, and the results are discussed in three sections. The first section outlines RN perceptions of qualities and skills required of AIN in mental health, and the responses primarily focus on communication skills, initiative, and willingness to learn. The second section targets factors in the workplace that might enhance the interest of AIN in a mental health nursing career; the responses emphasize their need to work with experienced staff. The last section outlines RN expectations of AIN, most of which are met and involve physical observations and technical tasks; less fulfilled activities primarily cluster around interactions with patients. Findings highlight the advantages and disadvantages of drawing on undergraduate nursing students as AIN in mental health settings. Communication skills, personal initiative, safety training to prevent violence, and education to increase knowledge and awareness about mental illness, diagnosis, and mental status‐related skills were all important concerns articulated by RN.
Stress‐induced activation of ovarian heat shock protein 90 in a rat model of polycystic ovary syndrome
Authors: Park Eunkuk , Cockrem John F. , Han Kyung‐Hoon , Kim Doh‐Hee , Jung Min‐Hyung , Chu Jong‐Phil 
Published: December 2011

AbstractAim:  Polycystic ovarian syndrome is the most common endocrine disorder affecting infertile women of reproductive age. This study evaluated the activation of heat shock protein 90 (Hsp 90) during the formation of stress‐induced polycystic ovaries.Material & Methods:  Female Sprague–Dawley rats (180–200 g) were subjected to one of two stress‐inducing conditions; animals were either treated with adrenocorticotropic hormone daily for 18 days or were exposed to daily cold stress for three weeks. Non‐treated rats sampled during proestrus or diestrous served as controls. Blood samples were collected from the left ventricles of anesthetized rats and concentrations of follicle‐stimulating hormone, luteinizing hormone, estradiol, testosterone and corticosterone were measured in all rats. The expression of messenger RNA for androgen receptor, estrogen receptor‐α and ‐β, nerve growth factor receptor, and glucocorticoid receptor, and protein expression for Hsp 90 was also assessed in the rat ovaries.Results:  Stress increased glucocorticoid receptor and androgen receptor expression, and decreased estrogen expression. Nerve growth factor receptor expression was greater in treated than diestrous rats and less in treated than proestrous rats. Ovarian Hsp 90 protein expression was increased in rats treated with adrenocorticotropic hormone or cold stress. Serum follicle‐stimulating hormone levels were reduced and testosterone and corticosterone levels increased by stress, whilst luteinizing hormone and estradiol levels were similar to levels in diestrous and proestrus control rats respectively.Conclusions:  The results indicate that stress, via the activation of ovarian Hsp 90 and changes in steroid hormone receptor expression and serum reproductive hormone levels, may be involved in the induction of polycystic ovaries in rats.
Fetal heart rate parameters and perinatal outcomes in fetuses with nuchal cords
Authors: Hoh Jeong‐Kyu , Sung Young‐Mo , Park Moon‐Il 
Published: December 2011

AbstractAim:  The purpose of the present study was to compare and analyze differences in antepartal fetal heart rate (FHR) parameters during pregnancy and pregnancy outcomes in normal fetuses and fetuses with nuchal cord (NC).Material and Methods:  We surveyed all non‐stress test (NST) data acquired using a computerized FHR analysis system at Hanyang University Hospital between 2005 and 2008, and selected 150 cases that had NC. NSTs were performed between 37 and 42 weeks of gestation. Subjects were divided into three groups by the number of NCs: no NC and normal (n = 300), single (n = 124) and multiple NCs (n = 26). Neonatal outcomes were compared, and FHR parameters analyzed using computerized fetal monitoring system.Results:  FHR variability, with respect to amplitude (AMP) and mean minute range (MMR), was lower in the multiple NCs group than in the normal group (18.04 ± 0.38 vs 14.54 ± 1.10 bpm, P = 0.0207; 55.69 ± 1.22 vs 44.35 ± 3.41 ms, P = 0.0145, respectively). There were no other statistically significant differences of FHR parameters between the three groups. Baby weight was significantly lower in the multiple NCs group than in the normal group (3317 ± 24 vs 3054 ± 55; P = 0.0008), and there were no other significant differences between the groups.Conclusion:  Computerized analysis of FHR would be helpful to assess fetal status, especially in cases of multiple NCs. Multiple NCs may be a subliminal risk factor for the babies even though they present no complications at delivery.
First trimester diagnosis of parapagus diprosopus dibrachius dipus twins with cranirachischisis totalis by three‐dimensional ultrasound
Authors: Ülker Kahraman , Akyer Şahika P. , Temur İsmail , Tan Temel , Karaca Mehmet , Adıgüzel Esat , Gül Abdülaziz 
Published: December 2011

AbstractParapagus (laterally fused), diprosopus (two faces), dibrachius (two upper extremities), dipus (two lower extremities) conjoined twinning is extremely rare. The coexistence of anencephaly with a contiguous spinal defect (craniorachischisis totalis) makes the present case one of the rarest of the published cases. In our case, it was difficult to make the final diagnosis by two‐dimensional abdominal and vaginal ultrasound. Three‐dimensional ultrasound was helpful for final diagnosis and post‐abortal examination confirmed the prenatal ultrasound diagnosis. The heart, diaphragm, liver and perineum were all united. Fine dissection of the heart showed four vessels arising from the ventricles and a membranous type ventricular septal defect.
Clinical performance assessment of five human papillomavirus DNA tests using liquid‐based cytology samples
Authors: Song Seung Hun , Hong Jin Hwa , Kwak San Ha , Lee Jae Kwan , Kim Mi Kyung 
Published: December 2011

AbstractAim:  To evaluate the performance of five HPV tests (Hybrid Capture 2, Linear Array [LA], DNA chip, type‐specific polymerase chain reaction [PCR], and sequencing) in detecting high‐risk (HR) HPV DNA and high‐grade cervical intraepithelial neoplasia (CIN) and cancer.Material and Methods:  A total of 137 women with abnormal cytologies were prospectively enrolled. The diagnostic accuracy of five HPV DNA tests in detecting high‐grade CIN and cancer was assessed, and the concordance among HPV genotyping tests was evaluated. All specimens were obtained from cervical swab samples preserved in residual PreservCyt solution that were originally collected for ThinPrep Pap test.Results:  The sensitivities of all five HPV tests did not differ significantly among the five HPV tests. The overall concordance level was excellent between LA and sequencing (98.2%, Kappa = 0.9) and was substantial between DNA chip and sequencing (96.4%, Kappa = 0.8). The concordance levels for detecting vaccine‐type (HPV 16 and 18) of LA in comparison with DNA chip, type‐specific PCR, and sequencing were substantial (Kappa = 0.67, 0.64, and 0.65, respectively). The sensitivities for all five HPV tests were >90% for the detection of CIN2 or higher. No statistically significant differences in sensitivity occurred between any of the tests.Conclusion:  All five HPV tests showed reliable results in detecting HR HPVs, high‐grade CIN, and cancer. Both LA and DNA chip tests may be useful in identifying HR HPV, especially when multiple genotypes are present.
Successful treatment of adult‐type granulosa cell tumor of the ovary by palliative radiotherapy
Authors: Taira Yuusuke , Hirakawa Makoto , Nagayama Chiaki , Ikemiyagi Kozue , Touma Takashi , Tokashiki Midori 
Published: December 2011

AbstractA 76‐year‐old woman underwent laparotomy at another hospital because of acute abdomen. Owing to strong attachment and dissemination of the tumor, it was unresectable. Adult‐type granulosa cell tumor (AGCT) was diagnosed based on pathological examination. Considering her poor condition, she was advised to receive total supportive care. However, she was lost to follow‐up after a few months. Subsequently, she visited our hospital with abdominal distension. A large abdominal tumor and liver metastasis was observed on abdominal computed tomography (CT). We selected palliative radiotherapy to relieve her of the symptoms. External beam radiotherapy was delivered to the affected data. No acute adverse effects were observed. We observed reduction in tumor size on postoperative abdominal CT. She is still alive with no signs of tumor progression for 30 months. Palliative radiotherapy is effective for patients with advanced‐stage AGCT and abdominal complaints.
Ammonia‐oxidizing archaea as main drivers of nitrification in cold‐water sponges
Authors: Radax Regina , Hoffmann Friederike , Rapp Hans Tore , Leininger Sven , Schleper Christa 
Published: December 2011

SummaryThe association of archaea with marine sponges was first described 15 years ago and their role in the nitrification process in Mediterranean and tropical sponges has been suggested. Here we explore the occurrence and abundance of potential ammonia‐oxidizing archaea (AOA) in four morphologically different cold‐water sponges (Phakellia ventilabrum, Geodia barretti, Antho dichotoma and Tentorium semisuberites) from the sublittoral and upper bathyal zone [Correction added on 30 December 2011, after first online publication on 19 December 2011: The term ‘mesopelagic zone’ has been replaced.] of the Norwegian coast, and relate them to nitrification rates determined in laboratory incubations. Net nitrification rates, calculated from the sum of nitrite and nitrate release during 24 h, were up to 1880 nmol N cm−3 day−1; i.e. comparable with those measured in Mediterranean sponges. Furthermore, a high abundance of archaeal cells was determined by fluorescence in situ hybridizations (CARD‐FISH) and quantitative PCR, targeting archaeal amoA genes (encoding the alpha subunit of ammonia monooxygenase). AmoA genes as well as amoA transcripts were either exclusively detectable from archaea or were orders of magnitudes higher in abundance than their bacterial counterparts. Phylogenetic analyses of AOA and bacterial nitrite oxidizers (genus Nitrospira) confirmed the presence of specific populations of nitrifying microorganisms in the sponge mesohyl, which either were affiliated with groups detected earlier in marine sponges or were typical inhabitants of cold‐ and deep‐water environments. Estimated cell‐specific nitrification rates for P. ventilabrum were 0.6 to 6 fmol N archaeal cell−1 day−1, thus comparable with planktonic organisms. Our results identify AOA as the major drivers of nitrification in four cold‐water sponges, and indicate that these archaea may be considered as a relevant factor in nitrogen cycling in ocean regions with high sponge biomass.
A periplasmic arsenite‐binding protein involved in regulating arsenite oxidation
Authors: Liu Guanghui , Liu Mengyao , Kim Eun‐Hae , Maaty Walid S. , Bothner Brian , Lei Benfang , Rensing Christopher , Wang Gejiao , McDermott Timothy R. 
Published: December 2011

SummaryArsenic (As) is the most common toxic element in the environment, ranking first on the Superfund List of Hazardous Substances. Microbial redox transformations are the principal drivers of As chemical speciation, which in turn dictates As mobility and toxicity. Consequently, in order to manage or remediate environmental As, land managers need to understand how and why microorganisms react to As. Studies have demonstrated a two‐component signal transduction system comprised of AioS (sensor kinase) and AioR (response regulator) is involved in regulating microbial AsIII oxidation, with the AsIII oxidase structural genes aioB and aioA being upregulated by AsIII. However, it is not known whether AsIII is first detected directly by AioS or by an intermediate. Herein we demonstrate the essential role of a periplasmic AsIII‐binding protein encoded by aioX, which is upregulated by AsIII. An ΔaioX mutant is defective for upregulation of the aioBA genes and consequently AsIII oxidation. Purified AioX expressed without its TAT‐type signal peptide behaves as a monomer (MW 32 kDa), and Western blots show AioX to be exclusively associated with the cytoplasmic membrane. AioX binds AsIII with a KD of 2.4 µM AsIII; however, mutating a conserved Cys108 to either alanine or serine resulted in lack of AsIII binding, lack of aioBA induction, and correlated with a negative AsIII oxidation phenotype. The discovery and characterization of AioX illustrates a novel AsIII sensing mechanism that appears to be used in a range of bacteria and also provides one of the first examples of a bacterial signal anchor protein.