bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism
Authors: Edelheit Oded , Hanukoglu Israel , Gizewska Maria , Kandemir Nurgun , Tenenbaum‐Rakover Yardena , Yurdakök Murat , Zajaczek Stanislaw , Hanukoglu Aaron 
Published: April 2005

SummaryObjectives Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in the genes encoding epithelial sodium channel (ENaC) subunits α, β and γ. In this study we examined three PHA patients to identify mutations responsible for PHA with different clinical presentations.Patients All three patients presented uniformly with symptoms of severe salt‐loss during the first week of life and were hospitalized for up to a year. Beyond infancy, one of the patients showed mild renal salt loss and had no lower respiratory tract infections until 8 years of age, while the other patients continue with a severe course.Results We sequenced the complete coding regions and intron–exon junctions of the genes encoding α, β and γ subunits of ENaC for all patients. The results revealed that the mild case represents a novel compound heterozygote including a missense (Gly327Cys) mutation in the αENaC gene. Sequences of relatives over three generations confirmed that the missense mutation co‐segregates with PHA. This mutation was not found in 60 control subjects. The other patients with severe PHA had two homozygous mutations, a novel deletion mutation in exon 8 of the αENaC gene and a splice site mutation in intron 12 of the βENaC gene. Most of the PHA‐causing mutations appear in the αENaC gene located on chromosome 12 rather than in the β and γENaC genes located tandemly on chromosome 16. However, the frequency of sequence variants in patients and control subjects showed no difference between genes.Conclusions Severe PHA cases are associated with mutations leading to absence of normal‐length α, β or γENaC, while a mild case has been found to be associated with a missense mutation in αENaC. The predominance of PHA‐causing mutations in the αENaC gene may be related to the function of this subunit.
A retrospective study of growth hormone use in adolescents with cystic fibrosis
Authors: Hardin Dana S. , Ferkol Tom , Ahn Chul , Dreimane Daina , Dyson Maynard , Morse Martha , Prestidge Claude , Rice Julie , Seilheimer Dan K. 
Published: April 2005

SummaryObjectives Studies of growth hormone (GH) effectiveness in prepubertal children with cystic fibrosis (CF) have been published previously. We present a retrospective study of GH treatment in adolescents with CF.Study design We performed a retrospective evaluation of data from 25 pubertal adolescents (ages 13 years 4 months to 16 years 11 months, Tanner stage III or IV). Thirteen (4 F) were followed for 1 year, then received 1 year of treatment with GH (GHTX). We compared the results with a ‘control’ group of 12 (4 F) whose growth was followed for 1 year (NonTX) but who were not treated with GH at the time of this review. Anthropometric data included: height, weight, lean tissue mass (LTM) and bone mineral content (BMC). Pulmonary function, number of hospitalizations, glycosylated haemoglobin (HbA1c), random blood glucose levels, IGF‐I, oestradiol and testosterone levels are also reported.Results There was no difference between the groups at baseline. After 1 year, GHTX had significantly greater height and weight velocity, height and weight Z‐scores, body mass index (BMI), LTM and BMC. Absolute pulmonary function was better and hospitalizations were fewer in the GHTX. No subject developed glucose intolerance or had any other side‐effects.Conclusion These results suggest that GH use in pubertal adolescents with CF safely improves height, body weight, bone mineralization and clinical status.
Arg16Gly polymorphism in β2‐adrenergic receptor gene is not associated with thyrotoxic periodic paralysis in Korean male patients with Graves’ disease
Authors: Kim Tae Yong , Song Ja Young , Kim Won Bae , Shong Young Kee 
Published: April 2005

SummaryBackground Thyrotoxic periodic paralysis (TPP) occurs most frequently in Asian males and present with an acute episode of proximal muscle weakness in the setting of thyrotoxicosis. Despite the fact that mutations were described in genes encoding ion channels in familial hypokalaemic periodic paralysis, no definite genetic variants were found in TPP. β2‐adrenergic receptors (ADRB2s) are expressed in skeletal muscle and stimulate the sodium pump. Single nucleotide polymorphisms in ADRB2 gene were identified and may act as disease modifiers in various diseases.Objective We were to demonstrate that ADRB2 gene might be a susceptibility gene for TPP in Korean male patients with Graves’ disease.Design and Patients In a series of 28 male TPP patients and 31 control patients, three polymorphisms in ADRB2 gene have been studied: a T to C substitution at −47 (−47T/C), Arg16Gly and Gln27Glu. Control patients were male Graves’ patients without history of paralysis.Results The distributions of the −47C, Gly16 and Glu27 alleles in all patients were 0·02, 0·34 and 0·02, respectively. The genotype Arg16/Arg16 was not significantly associated with TPP (odds ratio 0·53; 95% confidence interval, 0·19–1·50; corrected P = 0·897). Also, the frequency of genotype Gly16/Gly16 was not significantly different in TPP patients than in controls (0·07 vs. 0·23; odds ratio, 0·26; 95% confidence interval, 0·05–1·40; corrected P = 0·45). Allele frequencies of ADRB2 in patients with TPP did not differ from controls.Conclusions The polymorphism of the ADRB2 gene may not confer genetic susceptibility to TPP in Korean male patients with Graves’ disease.
Improvement of intrinsic myocardial contractility and cardiac fibrosis degree in acromegalic patients treated with somatostatin analogues: a prospective study
Authors: Bogazzi Fausto , Di Bello Vitantonio , Palagi Caterina , Donne Maria Grazia Delle , Di Cori Andrea , Gavioli Silvia , Talini Enrica , Cosci Chiara , Sardella Chiara , Brogioni Sandra , Mariani Mario , Martino Enio 
Published: April 2005

SummaryBackground Acromegalic patients have increased left ventricular (LV) mass (M) and impaired diastolic function.Aim Using ultrasonic cardiac tissue characterization, we evaluated the early changes in cardiac fibrosis (IBS) and intrinsic myocardial contractility (CVI) as well as their reversibility after treatment with somatostatin analogues (SMSA) in patients with acromegaly.Patients and Methods Twenty‐two acromegalic patients with active untreated disease (AcroUNTR) underwent conventional Doppler echocardiography and integrated backscattering; 25 healthy subjects (controls) and eight patients with acromegaly in remission after pituitary adenomectomy (AcroREM) served as controls.Results As expected, AcroUNTR at baseline had higher LVM than controls or AcroREM (P < 0·001); LVM reduced in acromegalic patients after SMSA (P < 0·005 vs. baseline) while LV ejection fraction did not change. LV diastolic function was reduced in all acromegalic patients, either at baseline or after SMSA therapy (E/A ratio, 0·96 ± 0·3 and 1·1 ± 0·3, respectively, P < 0·002 vs. controls, 1·6 ± 0·3). CVI was reduced in AcroUNTR (14·3 ± 5·8%, P < 0·003 vs. controls, 28·7 ± 7·5%) and greatly improved after SMSA (22·5 ± 4·5%, P < 0·003 vs. baseline). Cardiac fibrosis was increased in AcroUNTR (IBSMSI, 53·7 ± 5·3%P < 0·002 vs. controls) and reduced after SMSA (43·7 ± 4·2%P < 0·002 vs. baseline) albeit not reaching values observed in controls. More importantly, five of 22 (23%) AcroUNTR patients had normal LVM, but increased cardiac fibrosis as revealed by back scattering. IBS values and CVI% were related with serum GH and IGF‐1 (P < 0·0001) levels, and the estimated duration of disease (P < 0·005).Conclusions The present study demonstrated that active acromegalic patients had early impairment of systolic function and increased cardiac fibrosis; increased fibrosis may precede LV hypertrophy; these changes are related to the activity of disease and might improve during treatment with SMSA.
An Investigation of Assessment Games During Fallow Deer Fights
Authors: Jennings Dómhnall J. , Gammell Martin P. , Payne Robert J. H. , Hayden Thomas J. 
Published: April 2005

AbstractAn improved understanding of the decision rules used by competing animals can be achieved by examining both the temporal structure and display rate of competitors during a contest. Current models of animal competition make different predictions regarding the behaviour of competing animals and the present study evaluates the predictions of three such models, the energetic war of attrition (eWOA), the sequential assessment game (SAG) and the cumulative assessment model (CAM) by applying them to the fighting behaviour of male fallow deer (Dama damaL.). There was no difference in rate at which the jump clash and backward push were recorded over fight duration; therefore, in terms of the temporal distribution of behavioural acts within fights, the jump clash and backward push conformed to the predictions of the SAG. There was a difference between winners and losers of fights for the frequency that the jump clash and backward push were recorded consistent with both the SAG and CAM. Analysis of bout duration showed that there was a decrease in the duration of subsequent bouts of fighting; this is only permitted under eWOA. In so far as current assessment models permit interpretation of the data, our results meet only a limited number of predictions of any one model. Given the difficulty in interpreting our data within the context of current assessment models, recommendations for the development of more complex models are presented.
Nest Hydrocarbons as Cues for Philopatry in a Paper Wasp
Authors: Sumana A. , Liebert Aviva E. , Berry Anne S. , Switz Ghislaine T. , Orians Colin M. , Starks Philip T. 
Published: April 2005

AbstractPhilopatric behavior has been demonstrated in a wide taxonomic spread of animals. In temperate environments, overwinteredPolisteswasp foundresses often return to their natal nest prior to initiating colony construction. Previous research has shown that these spring foundresses can identify the natal nest in the absence of landmark and gross morphological cues. Hydrocarbons are essential recognition cues forPolistesnest and nestmate discrimination, but cuticular hydrocarbon profiles can become homogenized when foundresses overwinter in mixed colony groups. We examined the hydrocarbon profiles ofPolistes dominulusfoundresses and nests before and after an overwintering period, and found that the hydrocarbon profiles of nests remain unique over time and that this uniqueness is influenced by the original foundresses. Our data raise the possibility that in returning to the natal nest, foundresses reacquire their colony‐specific signature, which may play a role in the formation of cooperative associations.
Prior Residence Influences Contest Outcome in Flocks of Non‐Breeding Birds
Authors: Snell‐Rood Emilie C. , Cristol Daniel A. 
Published: April 2005

AbstractWe sought to determine whether early arrival was a determinant of contest outcome in loosely organized, non‐breeding flocks of birds. In White‐throated Sparrows (Zonotrichia albicollis) arrival date during autumn migration, i.e. within‐year prior residence, was a significant determinant of contest outcome for those birds that were not present on the study site in previous years. To determine whether the advantage of early arrival was due to prior residence per se, as opposed to some correlate of arrival date (e.g. condition), we experimentally delayed the arrival of 60 migrants. We found a significant effect of the delay: the outcome of contests between naturally arriving (control) birds and experimentally delayed birds was significantly related to the difference between the control bird's natural arrival date and the experimental bird's delayed arrival date. Thus, prior residence per se, and not some correlate of arrival date, had a significant effect on a naïve individual's ability to win contests. Interestingly, arrival date had no effect on contest outcome among birds that had wintered on the site in previous years. Because a prior residence advantage accumulates in a time‐dependent manner, our results suggest that fighting ability or perceived resource value increases with site familiarity. Thus, there may be selection on arrival date and site‐faithfulness as behavioral strategies to increase access to resources.
Ultrasonographic changes in malignant neck nodes during radiotherapy in head and neck squamous carcinoma
Authors: Correa PD , Arya S , Laskar SG , Shrivastava SK , Dinshaw KA , Gupta T , Agarwal JP 
Published: April 2005

SUMMARYLimited information is available about the sonomorphological changes in metastatic neck nodes during radiotherapy. The aim of this study was to evaluate the pattern of sonomorphological changes in metastatic neck nodes with radiotherapy. The study population consisted of 16 consecutive patients planned for radical radiotherapy to the head and neck. All patients were subjected to four ultrasound examinations: before therapy, at 46 Gy, at the conclusion of radiation and at first follow up. A total of 59 ultrasound examinations were performed on 16 patients. The difference between the mean number of nodes detected per patient before (10.6) and after (7.8) radiation was significant (P = 0.05). Sixteen nodes were categorized as malignant at first sonography, half of which reverted back to normal by the end of radiation. Changes in the sonomorphology of malignant cervical lymph nodes occur with radiotherapy with more that half demonstrating reversion to normal pattern. Future studies correlating this with histopathology should be considered.
Transjugular intrahepatic cavoportal shunt for Budd–Chiari syndrome
Authors: Ul Haq T , Munir K , Haider Z , Yaqoob J , Usman U 
Published: April 2005

SummaryBudd–Chiari syndrome (BCS) is characterized by obstruction of the hepatic venous outflow tract. Therapeutic options for BCS are limited. We report a case of a 21‐year‐old woman with protein S and C deficiency with gross ascites. Treatment with transjugular intrahepatic portosystemic shunt (TIPS) was attempted, which revealed occluded hepatic veins, so transcaval TIPS was performed. No serious procedure‐related complication occurred. After successful shunt creation, the patient's symptoms subsided and she was discharged and followed up for 6 months.
Sclerosing mesenteritis
Authors: White B , Kong A , Chang A‐L 
Published: April 2005

SummarySclerosing mesenteritis is a rare benign process involving mesenteric fat that has non‐specific histology and imaging characteristics, which are critical to the diagnosis. It has two different pathological variants: mesenteric panniculitis (acute or subacute) and retractile mesenteritis (chronic). This case study illustrates the radiological findings of sclerosing mesenteritis, describes certain signs that suggest the diagnosis and reviews recent published literature.
Paratubal cyst complicated by tubo‐ovarian torsion: Computed tomography features
Authors: Low S‐CA , Ong C‐L , Lam S‐L , Beh S‐T 
Published: April 2005

SummaryParatubal cysts complicated by tubo‐ovarian torsion are an uncommon cause of acute right iliac fossa pain in children and very rarely diagnosed accurately preoperatively. We report a constellation of diagnostic CT features in a 12‐year‐old pubertal girl.
Synovial osteochondromatosis: the spectrum of imaging findings
Authors: Ryan RS , Harris AC , O'Connell JX , Munk PL 
Published: April 2005

SummaryImaging plays a vital role in the diagnosis and management of synovial osteochondromatosis, a proliferative disorder of the synovium with associated loose body formation. The aim of this pictorial review is to illustrate the radiographic, computed tomographic and magnetic resonance appearances of various stages of the disease.
Burnout in physicians: a case for peer‐support
Authors: Bruce S. M. , Conaglen H. M. , Conaglen J. V. 
Published: April 2005

AbstractBackground:  It is well documented that doctors experience a high level of stress in their profession, and that this can lead to physical, psychological, and emotional harm, in particular, burnout. Overseas (especially in the UK and USA), research investigating the levels of stress, burnout, and associated psychiatric morbidity in health professionals, across many specialities, has been carried out with a view to prevention of these adverse outcomes.Aims:  To assess the level of burnout in a sample of New Zealand physicians, the associated work and personal characteristics, and the need for development of a support peer supervision or support system.Methods:  Questionnaires that measured a number of work and personal characteristics, including the Maslach Burnout Inventory, the General Health Questionnaire, and additional questions regarding mistakes, and need for support, were sent to 83 physicians in the Waikato and Bay of Plenty areas. Analysis involved descriptive statistics, with t‐tests for comparison with other studies, Pearson Product‐Moment correlations between variables and analysis of variance where appropriate.Results:  Of the 50 respondents, 28% experienced high levels of two or three aspects of burnout (emotional exhaustion, depersonalization, low personal accomplishment). Emotional exhaustion correlated with a greater need for support. Most respondents favoured a one‐to‐one support system.Conclusion:  This study highlights the presence of significant workplace difficulties for physicians and the need to develop a preventative support system for the protection of physicians and the patients in their care. (Intern Med J 2005; 35: 272–278)
Towards a family process model of maternal and paternal depressive symptoms: exploring multiple relations with child and family functioning
Authors: Mark Cummings E. , Keller Peggy S. , Davies Patrick T. 
Published: April 2005

Background: Research has focused on maternal dysphoria and child adjustment. However, family process models indicate gaps in the study of paternal dysphoria, broader family functioning, and diverse child outcomes.Method: A community sample of 235 mothers and fathers of kindergarten children completed measures of depressive symptoms, family functioning and child adjustment. Teachers also provided measures of child adjustment.Results: Supportive of pervasive effects even in a community sample, increased parental depressive symptomatology was related to increased marital conflict, insecure marital attachment, less parental warmth, more psychological control in parenting, and multiple child problems. Child gender moderated child outcomes differently for paternal and maternal dysphoria. Marital relations, but not parenting, mediated child outcomes.Conclusions: Marital problems may be especially reactive to parental depressive symptomatology, so that mediational processes affecting child functioning become evident even in family contexts of relatively low risk.
Central coherence in typically developing preschoolers: does it cohere and does it relate to mindreading and executive control?
Authors: Pellicano Elizabeth , Maybery Murray , Durkin Kevin 
Published: April 2005

Background:  Frith and Happé (1994) describe central coherence (CC) as the normal tendency to integrate individual elements into a coherent whole, a cognitive style which varies in the general popu‐lation. Individuals with autism are at the extreme (weak) end of the continuum of coherence. There has been debate over whether CC is independent from other psychological functions such as theory of mind and executive control.Methods:  We examined the validity of the CC construct in 76 typically developing 4‐ and 5‐year‐old children using four visuospatial coherence tasks. We also investigated the extent to which individual differences in performance on CC measures were associated with individual differences on measures of mindreading and executive functioning (EF).Results:  Unexpectedly, the CC variables were not highly intercorrelated and did not form a single coherence factor. Instead, the results revealed a two‐factor structure, one of which corresponded to visuospatial constructional ability. Correlations between the emerging factors of coherence and mindreading ability were weak, even when developmental differences in age and verbal and nonverbal ability were taken into account. In contrast, visuospatial constructional ability was reliably related to measures of EF, whilst correlations between EF and the second CC factor were very weak.Conclusions:  CC in typically developing preschoolers is not a unitary construct. Whilst there is little relationship between CC and mindreading abilities in these young children, executive control appears to be associated with one aspect of coherence: visuospatial construction.
The Extinction Spasm Impending: Synergisms at Work
Authors: MYERS NORMAN 
Published: April 2005

Abstract: We are well aware of the main mechanisms of extinction, especially those which derive from human activities. But these mechanisms tend to be studied in isolation from each other. We know much less and understand less still about the dynamic interplay between the discrete mechanisms. When we consider the likely outcome of several mechanisms operating at once, we can reasonably surmise that many of their effects will serve to amplify each other. These synergistic interactions are the subject of this exploratoy paper.It is proposed that synergisms between discrete mechanisms, working collectively and with compounding impact on each other, will surely lead to a greater scale extinction episode ultimately. In the more immediate term, they may cause the episode to be telescoped in its time frame especially in the early phases. This means that a large‐scale elimination of species may occur even sooner than some observers anticipate. To the extent that this is so, there is all the greater premium on anticipatory planning and conservation measures, to be taken with due urgency.
Consequences and Costs of Conservation Corridors
Authors: SIMBERLOFF DANIEL , COX JAMES 
Published: April 2005

Abstract: There are few controlled data with which to assess the conservation role of corridors connecting refuges. If corridors were used sufficiently, they could alleviate threats from inbreeding depression and demographic stochasticity. For species that require more resources than are available in single refuges, a network of refuges connected by corridors may allow persistence. Finally, a cowidor, such as a riparian foresc may constitute an important habitat in its own right. A dearth of information on the degree to which different species use corridors makes it difficult to tell which of these potential advantages will be realized in any particular case. Some experimental field studies suggest that certain species will use corridors, although lack of controls usually precludes a firm statement that cowidors will prevent extinction.Corridors may have costs as well as potential benefits. They may transmit contagious diseases, fires, and other catastrophes, and they may increase exposure of animals to predaton, domestic animals, and poachers. Cowidors also bear economic costs. For example, a bridge that would maintain a riparian corridor costs about 13 times as much per lane‐mile as would a road that would sever the cowidor. Also, per‐unit‐area management costs may be latger for corridors than for refuges. It may be cheaper to manage some species by moving individuals between refuges rather than by buying and maintaining corridors.Each case must be judged on its own merits because species‐environment interactions dtyfer. As an example, we used the case of the Florida panther (Felis concolor cotyq, of which there remain about 30. The Florida panther's potential inbreeding problems could possibly be stemmed somewhat by a corridor system, but it is far from certain that even an extensive system will save this animal, and the cost of such a system would lessen the resources that could be devoted to land acquisition and other means of aiding many other threatened species.