bluuebunny/crossref_metadata_2025_split huggingface dataset:
Further genotype – phenotype correlations in neurofibromatosis 2
Authors: Selvanathan SK , Shenton A , Ferner R , Wallace AJ , Huson SM , Ramsden RT , Evans DG 
Published: November 2009

Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG. Further genotype–phenotype correlations in neurofibromatosis 2.Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative effect). We present a comparison between the clinical presentations of patients with mutations that are predicted to produce truncated protein (nonsense/frameshift mutations) to those that results in loss of protein expression (large deletions) to elucidate further genotype–phenotype correlations in NF2. Patients with nonsense/frameshift mutations have a younger age of diagnosis and a higher prevalence/proportion of meningiomas (p = 0.002, p = 0.014), spinal tumours (p = 0.004, p = 0.004) and non‐VIII cranial nerve tumours (p = 0.006, p = 0.003). We also found younger age of diagnosis of vestibular schwannomas (p = 0.007), higher mean numbers of cutaneous lesions (p = 0.003) and spinal tumours (p = 0.006) in these patients. With respect to NF2 symptoms, we found younger age of onset of hearing loss (p = 0.010), tinnitus (p = 0.002), paraesthesiae (p = 0.073), wasting and weakness (p = 0.001) and headaches (p = 0.049) in patients with nonsense/frameshift mutations. Our comparison shows, additional, new correlations between mutations in the NF2 gene and the NF2 disease phenotype, and this further confirms that nonsense/frameshift mutations are associated with more severe NF2 symptoms. Therefore patients with this class of NF2 mutation should be followed up closely.
Multiple Factors Affecting Superovulation in Poll Dorset in China
Authors: Quan F , Zhang Z , An Z , Hua S , Zhao X , Zhang Y 
Published: November 2009

ContentsTo expand the breeding flock of Poll Dorset sheep in China, multiple ovulation and embryo transfer breeding program was applied to the limited number of imported Australian Poll Dorset sheep. This study investigated the effects of FSH from three different manufacturers, parity (nulliparous vs multiparous), repeated superovulation, oestrus induction, corpus luteum regression and oestrus delay on Poll Dorset superovulation. The results showed that gonadotropin FSH from Canada Folltropin‐V (Ca‐FSH) was successfully used for superovulatory treatment with 160 mg–200 mg dosage per ewe and recovered 12.91 ± 7.80 embryos. Multiparous ewes for superovulation treatment were significantly better nulliparous ewes (p < 0.05). The successive superovalution treatment reduced significantly embryo collection but did not affect transferable embryo number. Ewes with natural oestrus resulted in significantly higher number of embryos (13.83 ± 4.64) and of transferable embryos (12.00 ± 5.76) than ewes with induced oestrus (7.00 ± 4.92; 4.22 ± 3.42) and unknown oestrus cycle (5.94 ± 3.38; 3.19 ± 2.56, p < 0.05). The delayed oestrus ewes at 24 h after superovulatory treatment produced significantly fewer embryos and transferable embryos (0.92 ± 1.51 vs 0.42 ± 0.90) than those with normal oestrus (p < 0.01). Furthermore, the more transferable embryos were recovered from ewes with normal corpus luteum than those with corpus luteum regression (5.88 ± 5.09 vs 3.59 ± 4.30 and 8.83 ± 5.75 vs. 6.66 ± 5.41, p < 0.01). These results suggest that in our farm practice, a comprehensive treatment method by using the Canadian FSH (Folltropin‐V), plus choosing multiparous and natural oestrus ewes with normal corpus luteum might obtain an optimum embryo collection and embryos transfer in sheep.
Formation and deformation processes of late Paleogene sedimentary basins in southern central Hokkaido, Japan: Paleomagnetic and numerical modeling approach
Authors: Tamaki Machiko , Kusumoto Shigekazu , Itoh Yasuto 
Published: November 2009

AbstractFormation and deformation processes of the late Paleogene sedimentary basins related to a strike–slip fault system in southern central Hokkaido are described by a combination of paleomagnetic study and numerical analysis. After correction of the Miocene counter‐clockwise rotation associated with back‐arc opening of the Japan Sea, paleomagnetic declination data obtained from surface outcrops in the Umaoi and Yubari areas show significant easterly deflections. Although complicated differential rotation is anticipated as a result of recent thrust movements, clockwise rotation in the study areas is closely linked with development of the Paleogene Minami‐naganuma Basin as a pull‐apart depression along the north–south fault system. Numerical modeling suggests that 30 km of strike–slip is required to restore the distribution and volume of the Minami‐naganuma Basin. The relative slip rate on the long‐standing fault system is about 10 mm/yr, which corresponds to global‐scale plate motion. It has inevitably caused regional rearrangement of the eastern Eurasian margin. A rotation field simulated by simplified dextral motion using dislocation modeling basically accords with the paleomagnetic data around the pull‐apart basin.
Histological evaluation of intracapsular venous invasion for discrimination between portal and hepatic venous invasion in hepatocellular carcinoma
Authors: Ohashi Masanori , Wakai Toshifumi , Korita Pavel V , Ajioka Yoichi , Shirai Yoshio , Hatakeyama Katsuyoshi 
Published: November 2009

AbstractBackground and Aim:  Histological criteria for intracapsular venous invasion (IVI) that would allow its discrimination between portal and hepatic venous invasion in hepatocellular carcinoma (HCC) have not been established.Methods:  We evaluated IVI immunohistochemically to discriminate between portal and hepatic venous invasion in 89 resected specimens from patients with HCC. IVI was defined as the microscopic involvement of the vessels within the fibrous capsule of HCC. The hepatic venous system was subdivided into the central vein and the sublobular/hepatic vein. Immunohistochemical analysis with the D2‐40 monoclonal antibody revealed lymphatic vessels.Results:  In non‐neoplastic liver tissues, the portal veins (n = 4355) were accompanied by lymphatic vessels (99.7%), bile ductules (100%) and arteries (96%), whereas the central veins (n = 3932) and sublobular/hepatic veins (n = 662) were rarely accompanied by lymphatic vessels (0% and 17%, respectively) and bile ductules (12% and 33%, respectively). In total, 29 IVI foci were detected; three foci were clearly visible within vessels that contained a distinct layer of connective tissue fibers, signifying sublobular/hepatic venous invasion. As the remaining 26 foci were accompanied by lymphatic vessels (26/26 [100%]), bile ductules (21/26 [81%]) and arteries (10/26 [38%]), these foci were considered to reflect intracapsular portal venous invasion rather than venous invasion of the central vein. Intracapsular portal venous invasion was significantly associated with extratumoral portal venous invasion (P < 0.001).Conclusions:  D2‐40 immunoreactivity for the histological evaluation of IVI in HCC allows discrimination between portal and hepatic venous invasion for cases in which portal venous invasion predominates.
Infliximab improves inflammation and anthropometric measures in pediatric Crohn's disease
Authors: Sinitsky Daniel M , Lemberg Daniel A , Leach Steven T , Bohane Timothy D , Jackson Reuben , Day Andrew S 
Published: November 2009

AbstractBackground and Aim:  Infliximab (IFX) is a monoclonal antibody licensed to treat medically refractory Crohn's disease (CD). Our aim was to elucidate the effects of IFX therapy on clinical, growth and serum parameters in children with CD in a single pediatric center in Sydney, Australia.Methods:  A retrospective case series review of children treated with IFX for CD at Sydney Children's Hospital, Australia was undertaken, with a review of outcomes after starting IFX. Main outcome measures were response and remission (as measured according to improvements in Pediatric Crohn's Disease Activity Index scores and Physician Global Assessment), laboratory markers (C‐reactive protein, erythrocyte sedimentation rate, hemoglobin, white cell count, lymphocytes, neutrophils, platelets, albumin) and growth (Z scores).Results:  The 16 patients included had a mean age at first infusion of 13.0 years (1.25–17.5 years). Six of 12 patients (with adequate data available) were in remission at 2 weeks following the first infusion. At 1 year, 10 of 12 patients (83%) were in remission. Mean C‐reactive protein and erythrocyte sedimentation rate had fallen significantly (P < 0.05) at 2 weeks (from 29 to 7 mg/L and 40 to 19 mm/h, respectively). Positive trends were observed for all other parameters, excluding lymphocytes and white cell count. At 1 year, mean Z score for body mass index improved significantly from −0.9 to −0.1 (P < 0.01).Conclusions:  Disease activity subsides in most children treated with IFX for CD. IFX therapy also improves some growth parameters. The pattern of improvement requires further elucidation, as the results in the present study suggest differing dosing frequency of infusion may achieve better efficacy.
Oxidative stress and regulation of anti‐oxidant enzymes in cytochrome P4502E1 transgenic mouse model of non‐alcoholic fatty liver
Authors: Kathirvel Elango , Chen Philip , Morgan Kengathevy , French Samuel W. , Morgan Timothy R. 
Published: November 2009

AbstractBackground and Aim:  Reactive oxygen species produced by cytochrome P4502E1 (CYP2E1) are believed to play a role in pathophysiology of non‐alcoholic fatty liver disease (NAFLD). However, little is known about the expression, protein content and activity of anti‐oxidant enzymes and the role of inducible nitric oxide synthase (iNOS), a source of reactive nitrogen species, in NAFLD. In the present study, we evaluate gene expression, protein content and activity of anti‐oxidant enzymes, and iNOS, in a CYP2E1 overexpressing model of non‐alcoholic fatty liver (NAFL).Methods:  Non‐transgenic (nTg) and CYP2E1 transgenic (Tg) mice were fed rodent chow for 8 months. Alanine aminotransferase (ALT), aspartate aminotransferase (AST), liver triglycerides, malondialdehyde and protein carbonyls were measured. Gene expression of NF‐E2‐related factor (Nrf2), superoxide dismutase‐1, ‐2 (SOD‐1,2), catalase (CAT), glutathione peroxidase (GPx), heme oxygenase‐1 (HO‐1) and iNOS were determined. Protein content, activity and nitrosylation of the enzymes were also measured.Results:  Tg mice had greater CYP2E1 activity and histological liver injury. MDA and protein carbonyls were increased, indicating insufficient anti‐oxidant response. Gene expression of Nrf2, CAT, GPx, HO‐1 and iNOS were significantly increased. Protein content and enzyme activities of most anti‐oxidant enzymes were not correspondingly increased. iNOS activity and nitrosylation of CAT and SOD was greater in Tg mice liver.Conclusion:  Hepatocyte‐specific CYP2E1 overexpression results in increased oxidative stress and nitrosative stress. Several anti‐oxidant enzymes are upregulated. Failure of corresponding increase in total protein and activity of anti‐oxidant enzymes suggests modification/degradation, possibly by nitrosylation, due to increased iNOS activity in a CYP2E1 overexpressing NAFL mouse model.
Behavioral problems and parenting style among Taiwanese children with autism and their siblings
Authors: Gau Susan Shur‐Fen , Chou Miao‐Churn , Lee Ju‐Chin , Wong Ching‐Ching , Chou Wen‐Jiun , Chen Ming‐Fang , Soong Wei‐Tsuen , Wu Yu‐Yu 
Published: November 2009

Aims:  The purpose of the present study was to investigate the behavioral problems and parenting style among children with autism and their siblings in an ethnic Chinese population.Methods:  A total of 151 children with DSM‐IV autistic disorder, aged 3–12, 134 siblings without autism, and 113 normally developing controls were recruited. Both parents reported their parenting styles and psychological status and mothers also reported children's behavioral problems.Results:  Children with autism had significantly more severe behavioral problems and obtained less affection and more overprotection and authoritarian controlling from their parents than the other two groups. Compared to the controls, unaffected siblings showed some behavioral problems, and obtained less maternal care. Withdrawal and attention, social, and thought problems were the most associated behavioral syndromes to distinguish children with autism from those without.Conclusions:  In addition to children with autism, who have a wide range of behavioral problems and impaired parent–child interactions, their siblings may be at risk for such problems.
Changes in acid‐base, electrolyte and hemoglobin concentrations during infusion of hydroxyethyl starch 130/0.42/6 : 1 in normal saline or in balanced electrolyte solution in children
Authors: SÜMPELMANN ROBERT , WITT LARS , BRÜTT MEIKE , OSTERKORN DIRK , KOPPERT WOLFGANG , OSTHAUS WILHELM A. 
Published: November 2009

SummaryIntroduction:  A balanced volume replacement strategy is a well established concept for correcting hypovolemia using plasma adapted isotonic crystalloid solutions with a physiological electrolyte pattern and acetate as bicarbonate precursor. Recently, third‐generation hydroxyethyl starch (HES) has also become available in a balanced electrolyte solution instead of normal saline. Therefore, in this prospective non‐interventional clinical study, the perioperative administration of HES 130/0.42/6 : 1 in normal saline (ns‐HES) and in balanced electrolyte solution (bal‐HES) was evaluated in children with a focus on acid‐base, electrolyte and hemoglobin changes.Methods:  Following local ethics committee approval, pediatric patients aged up to 12 years with an ASA risk score of I–III undergoing perioperative administration of HES (ns‐HES from May 2006 to December 2007, bal‐HES from January 2008 to January 2009) were included. Patient demographics, the performed procedure, adverse drug reactions, hemodynamic data and the results of blood gas analysis were documented with a focus on changes in acid‐base, electrolyte and hemoglobin concentrations.Results:  Of 396 enrolled patients (ASA I–III; age 2.3 ± 3, range day of birth – 12 years; body weight 10.8 ± 9, range 0.9–52 kg), 249 received ns‐HES and 147 bal‐HES (mean volume infused 9.9 ± 4 and 9.4 ± 6.9 ml·kg−1, respectively). After HES infusion, hemoglobin decreased in both groups, whereas bicarbonate and base excess (BE) decreased only with ns‐HES and remained stable with bal‐HES (BE before infusion: ns‐HES −1.8 ± 2.8, bal‐HES −1.7 ± 2.7 mmol·l−1; after infusion: ns‐HES −2.6 ± 2.4; bal‐HES −1.6 ± 2.6 mmol·l−1, P < 0.05). Chloride (Cl) concentrations increased in both groups and were significantly higher with ns‐HES (Cl before infusion: ns‐HES 105.6 ± 3.7, bal‐HES 105.1 ± 2.8 mmol·l−1; after infusion: ns‐HES 107.7 ± 3.2, bal‐HES 106.3 ± 2.9 mmol·l−1, P < 0.01). No serious adverse drug reactions were observed.Conclusion:  Infusion related iatrogenic acid‐base and electrolyte alterations can be minimized by using hydroxyethyl starch in a balanced electrolyte solution instead of normal saline.
Electrical activation of the orbicularis oculi muscle does not increase the effectiveness of botulinum toxin type A in patients with blepharospasm
Authors: Conte A. , Fabbrini G. , Belvisi D. , Marsili L. , Di Stasio F. , Berardelli A. 
Published: November 2009

Background: Our primary aim in this study was to determine whether electrically induced activation of the injected muscle increases effectiveness of botulinum type A toxin (BonT‐A) in patients with blepharospasm (BPS). The second aim was to assess the safety of BonT‐A by investigating whether BonT‐A injection alters the excitability of blink reflex circuits in the brainstem.Methods: Twenty‐three patients with BPS received BonT‐A (Botox) injected bilaterally into the orbicularis oculi muscle at a standard dose. In 18 patients, electrically induced muscle activation of the orbicularis oculi muscle on one side was performed for 60 min (4 Hz frequency) in a single session, immediately after BonT‐A injection and in five patients for 60 min once a day for five consecutive days. The severity of BPS was assessed clinically with the BPS score. Compound muscle action potential (cMAPs) from the orbicularis oculi muscles were measured bilaterally. The blink reflex recovery cycle was studied at interstimulus intervals of 250 and 500 ms. Participants underwent clinical and neurophysiological assessment before BonT‐A injection (T0) and 2 weeks thereafter (T1).Results: Compound muscle action potential amplitude significantly decreased at T1 but did not differ between stimulated and non‐stimulated orbicularis oculi in the two groups. BonT‐A injection left the blink reflex recovery cycle tested on the stimulated and non‐stimulated sides unchanged.Conclusions: In patients with BPS, the electrically induced muscle activation neither increases the effectiveness of BonT‐A nor produces larger electrophysiological peripheral effects. The lack of BonT‐A‐induced changes in the blink reflex recovery cycle provides evidence that BonT‐A therapy is safe in patients with BPS.
Subclinical tremor in normal controls with versus without a family history of essential tremor: data from the United States and Turkey
Authors: Louis E. D. , Dogu O. , Ottman R. 
Published: November 2009

Background and purpose:  Mild action tremor is very common in the population. One fundamental question is whether this tremor is related to the neurological disease essential tremor (ET), which occurs in a much smaller segment of the population? ET is often genetic, and variable phenotypic expression is well‐documented in the literature. We determined whether normal controls who report a family history of ET have greater action tremor than normal controls who do not report such a history.Methods:  Controls, enrolled in two epidemiological studies (New York and Turkey), were examined in detail and action tremor was rated using a valid and reliable clinical rating scale, resulting in a total tremor score (range 0–36).Results:  In New York, the total tremor score was higher in 44/406 (10.8%) controls who reported a family history of ET than in 362/406 controls with no such history (4.25 ± 2.51 vs. 3.78 ± 2.93, P = 0.02). Controls who reported a first‐degree relative with ET had the highest total tremor scores. In Turkey, the total tremor score was higher in 7/89 (7.9%) controls with a family history than in 82/89 controls with no family history (3.43 ± 4.54 vs. 1.13 ± 2.54, P = 0.048). All affected relatives in Turkey were first‐degree.Conclusions:  These data suggest that some of the normal tremor exhibited by people in the population is likely to be subclinical, partially expressed ET and that the sphere of ET is wider than is apparent from a consideration of clinically diagnosed cases.
Energy substrate availability as a determinant of neuronal resting potential, GABA signaling and spontaneous network activity in the neonatal cortex in vitro
Authors: Holmgren Carl D. , Mukhtarov Marat , Malkov Anton E. , Popova Irina Y. , Bregestovski Piotr , Zilberter Yuri 
Published: November 2009

J. Neurochem. (2009) 112, 900–912.AbstractWhile the ultimate dependence of brain function on its energy supply is evident, how basic neuronal parameters and network activity respond to energy metabolism deviations is unresolved. The resting membrane potential (Em) and reversal potential of GABA‐induced anionic currents (EGABA) are among the most fundamental parameters controlling neuronal excitability. However, alterations of Em and EGABA under conditions of metabolic stress are not sufficiently documented, although it is well known that metabolic crisis may lead to neuronal hyper‐excitability and aberrant neuronal network activities. In this work, we show that in slices, availability of energy substrates determines whether GABA signaling displays an inhibitory or excitatory mode, both in neonatal neocortex and hippocampus. We demonstrate that in the neonatal brain, Em and EGABA strongly depend on composition of the energy substrate pool. Complementing glucose with ketone bodies, pyruvate or lactate resulted in a significant hyperpolarization of both Em and EGABA, and induced a radical shift in the mode of GABAergic synaptic transmission towards network inhibition. Generation of giant depolarizing potentials, currently regarded as the hallmark of spontaneous neonatal network activity in vitro, was strongly inhibited both in neocortex and hippocampus in the energy substrate enriched solution. Based on these results we suggest the composition of the artificial cerebrospinal fluid, which bears a closer resemblance to the in vivo energy substrate pool. Our results suggest that energy deficits induce unfavorable changes in Em and EGABA, leading to neuronal hyperactivity that may initiate a cascade of pathological events.
Functional versus radiological assessment of chronic intestinal ischaemia
Authors: Zacho Helle D. , Abrahamsen Jan 
Published: November 2009

SummaryIntroduction:  The diagnosis chronic intestinal ischaemia (CII) is based on the clinical symptoms postprandial pain and weight loss combined with abnormal findings during angiography. Despite the well‐known poor correlation between symptoms and morphology, physiological tests are rarely performed.Perspectives:  It is possible to measure the total splanchnic blood flow (SBF) before and after a test meal, and the results supply additional information to the morphologic investigations. To date, no papers have addressed the impact of morphologic changes of the mesenteric arteries on the SBF.Materials and methods:  Forty‐six consecutive patients suspected of CII were investigated. The routine investigation included angiography and measurements of the SBF before and after a test meal. Measurements of the total SBF were performed using the ‘Fick principle’. 99mTechnetium‐labelled Mebrofenin® was used as a tracer. Digital subtraction angiography was performed.Results:  Agreement between SBF and angiography was found in 44 of 46 patients. Mean baseline SBF for all patients was 985 ml/min, total range (525–1932) and within the reported normal range. The mean postprandial increase in SBF was 480 mL min−1 (−130 to 1353), thus 36 patients were categorized as normal by both angiography and SBF, eight patients were abnormal by both methods and two patients had abnormal SBF but normal angiography.Discussion:  In this cohort, SBF detects CII with sensitivity of 1·0, and specificity of 0·95. SBF supplies additional information in patients with convincing symptoms and normal angiography. In these patients, the affection of the intestinal arteries may be too distant or too subtle to be visualized on angiography.