bluuebunny/crossref_metadata_2025_split huggingface dataset:
Minimal surface as a model of β‐sheets
Authors: Koh Eunhee , Kim Taehyo 
Published: September 2005

AbstractThe purpose of this article is to present arguments based on experimental data that the β‐sheet structures in proteins are the result of the tendency to minimize surface areas. Thus, we propose the model that all β‐sheet structures are almost minimal surfaces, namely, their mean curvatures are nearly zero. To support this model, we chose 1740 disjoint β‐sheets with less than 10 strands from the all β‐protein class in a nonredundant 40% Structural Classification of Proteins (SCOP) database and applied the least‐squares method to fit the minimal surface catenoid (and in some rare cases, the plane) to the β‐sheet structures. The fitting errors were extremely small: The error of 1729 β‐sheets with catenoid minimal surface is 0.90 ± 0.55 Å and the error of the remaining 11 flat sheets with the plane is 0.64 ± 0.46 Å. The fact that the commonly used models for some β‐sheet surfaces (i.e., the hyperboloid and strophoid) have very small mean curvatures (< 0.05) supports our model. Moreover, we showed that this model also includes the isotropically stressed configuration model proposed by Salemme, in which the intrastrand tendency of the individual chains to twist or coil is in equilibrium with the tendency of the interstrand hydrogen bonding to resist twisting of the sheet as a whole. As an application we used our model to quantify the two principal independent modes in the flexibility of β‐sheets, that is, the bending parameter of β‐sheets and the inclined angle of β‐strands in a sheet. Proteins 2005. © 2005 Wiley‐Liss, Inc.
Human glycerol kinase deficiency: Enzyme kinetics and fibroblast hybridization
Authors: McCabe E. R. B. , Sadava D. , Bullen W. W. , McKelvey H. A. , Seltzer W. K. , Rose C. I. 
Published: September 2005

AbstractGlycerol kinase deficiency has been associated with neuromuscular, skeletal and adrenal abnormalities and has also been seen in individuals without these clinical findings. Examination of residual enzyme activity in patients' liver, kidney, leukocytes and fibroblasts showed a generalized, heritable defect: the apparentKm for glycerol was increased 5‐200‐fold over control values, whereas the apparentKm for ATP was not significantly altered. This kinetic defect was similar in fibroblasts from clinically different individuals with this inborn error of metabolism. Hybridization of fibroblasts from these individuals showed no evidence of complementation for glycerol kinase activity.
Hyperuricaemia and choreoathetosis in a child without mental retardation or self‐mutilation — a new HPRT variant
Authors: Gottlieb R. P. , Koppel M. M. , Nyhan W. L. , Bakay B. , Nissinen E. , Borden M. , Page T. 
Published: September 2005

AbstractA thirteen‐year‐old boy is described who had uric acid nephrolithiasis, spasticity and choreoathetosis, but no self‐mutilation or mental retardation. Initial studies suggested the presence of the classic Lesch‐Nyhan enzymatic defect; study of the metabolism of [8‐14C]hypoxanthine and [8‐14C]guanine in intact fibroblasts and careful analysis of the data indicated that this was not the case. This child represents a newly identified variant of the HPRT locus.
Metabolism of collagen in aspartylglycosaminuria: Decreased synthesis by cultured fibroblasts
Authors: Näntö‐Salonen K. , Penttinen R. 
Published: September 2005

Abstract Fibroblasts from patients with aspartylglycosaminuria (AGU) and from age‐matched healthy controls were studied in culture. The rate of synthesis of collagenous proteins was lower in AGU fibroblasts than in control cells despite the fact that the growth rates and growth patterns were similar. Qualitative differences in culture media proteins between AGU and control cultures were not revealed by gradient gel electrophoresis or by CM‐cellulose chromatography after pepsin treatment. DEAE‐cellulose chromatography of AGU culture media components showed that they contained more [3H]glucosamine‐labelled glycoproteins than the control culturesDecreased collagen synthesis may explain the connective tissue symptoms (e.g. skeletal deformations and susceptibility to hernias) frequently present in AGU patients. Products from the incomplete intracellular degradation of glycoproteins can interfere with collagen synthesis in AGU. Aspartylglycosaminuria might thus provide a model for studying the regulation of collagen synthesis.
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency
Authors: Cam L. , Tettamanti G. , Berra B. , Sale F. Omodeo , Borrone C. , Gatti R. , Durand P. , Martin J. J. 
Published: September 2005

AbstractA female patient of Italian, non‐Jewish, descent, 22 years of age, with cloudy corneae, capsular lens opacities and severe and progressive mental and motor deterioration is described.Ultrastructural examination of a skin biopsy sample showed storage of membranous cytoplasmic bodies in Schwann cells, vessel walls, fibroblasts, smooth muscle fibres and sweat glands, and the presence of some electron‐lucent vacuoles, filled with fibrillo‐granular material, in sweat glands. Biochemical analysis of cultured fibroblasts (from skin explant) showed a complete deficiency of the sialidase acting on gangliosides, while the sialidase acting on sialyllactose and MU‐NeuAc, and several lysomal hydrolases were normal. The urine sediment analysis showed accumulation of all phospholipid species, of several glycolipids and of gangliosides, especially of the polysialylated species.We conclude that the patient under examination is affected by Mucolipidosis IV and the term ‘sialolipidosis’ is suggested for this inborn disorder.
Increased excretion of four acetyl‐CoA precursors during clinical episode of propionic acidaemia
Authors: Kuhara T. , Shinka T. , Matsumoto I. , Matsuo M. 
Published: September 2005

AbstractPropionic acidaemia (McKusick 23200) is caused by reduced activity of propionyl‐CoA carboxylase (EC 6.4.1.3). A number of metabolites characteristic of this disease are excreted in patients' urine. We have developed a method of chemical diagnosis using gas chromatography‐mass spectrometry (GC‐MS). Since our first chemical diagnosis (Matsumotoet al., 1978), we have diagnosed seven patients. Profiles of urinary acids, however, varied from patient to patient. Factors affecting these profiles may be genetic make‐up, age, or the patient's clinical and nutritional conditions. We have compared two metabolic profiles of a girl under different clinical conditions and found increased excretion of acetyl‐CoA precursors during clinical episodes.
Neonatal multiple sulphatase deficiency disorder biochemical characterization
Authors: Eto Y. , Tokoro T. , Kureha Y. , Koda N. , Tada Y. , Tahara T. , Maekawa K. , Liebaers I. , Vamos E. 
Published: September 2005

AbstractRecently, Vamos et al. (1981) reported that the clinical features in the neonatal onset form of multiple sulphatase deficiency (MSD) were much more pro nounced than those of the usual type of MSD. The activities of arylsulphatases A, B and C in the patient's cultured skin fibroblasts were greatly reduced. This paper characterizes the biochemical features of neonatal MSD and distinguishes this disorder from typical MSD.
A new variant form of hypertyrosinaemia due to 4‐hydroxyphenylpyruvic acid oxidase deficiency
Authors: Endo F. , Kitano A. , Uehara I. , Nagata N. , Matsuda I. , Shinka T. , Kuhara T. , Matsumoto I. 
Published: September 2005

AbstractTwo types of hereditary hypertyrosinaemia have been described (La Du and Gjessing, 1978). In this paper we describe familial cases of hypertyrosinaemia, in one of whom detailed enzymatic studies were done on the liver obtained at autopsy. The results suggest the disease as being a new variant of tyrosinaemia.
A lysosomal storage disorder in mice: A model of Niemann‐Pick disease
Authors: Sakiyama T. , Tsuda M. , Kitagawa T. , Fujita R. , Miyawaki S. 
Published: September 2005

AbstractRecently a strain of C57 BL/KsJ mice showed a progressive degenerative neurologic manifestation with hepatosplenomegaly, similar to Niemann‐Pick disease in humans (Miyawakiet al., 1982). Niemann‐Pick disease (McKusick 25720), a rare genetic disorder, is characterized by sphingomyelin accumulation, parti cularly in the reticuloendothelial system, due to a genetic defect of sphingomyelin catabolism. Animal models as an analogue of human Niemann‐Pick disease have been found in the Siamese cat (Chrispet al., 1970) and CBA mice (Lyonet al., 1965), but no other reports on these strains have been available. The ethical and scientific limitations of human experimentation have made necessary investigations with appropriate animal sys tems. We report here a new murine model to study a lysosomal storage disorder.
Adolescent's perceptions of parenting behaviours and its relationship to adolescent Generalized Anxiety Disorder symptoms
Authors: Hale William W. , Engels Rutger , Meeus Wim 
Published: September 2005

AbstractThis study examined the relationship between how adolescents perceived parenting behaviours and adolescent Generalized Anxiety Disorder (GAD) symptom scores. The 1106 junior high and high school students (12–19 years old; 49.6% males and 50.4% females) completed questionnaires regarding their perception of parenting behaviours and self‐rated symptoms of GAD. The findings of this study demonstrate that adolescent perceptions of parental alienation and rejection are strongly associated with adolescent GAD symptom scores. Additionally, mid‐adolescence females perceive more parental alienation in relation to their GAD symptom scores than both early and mid‐adolescent males. And early adolescent males perceive more parental rejection in relation to their GAD symptom scores than mid‐adolescent males.
The estimation of hidden seal-inflicted losses in the Baltic Sea set-trap salmon fisheries
Authors: Fjälling Arne 
Published: September 2005

Abstract
A database has been constructed using detailed information on catches and seal-disturbance from contracted commercial fishers in the northern Baltic Sea. A model was developed for the calculation of seal-induced losses in set traps for salmon. The model compared catches on consecutive days or day-pairs. It was found that the total losses in set traps were high: 61% of the potential catch in a trend-adjusted sample of paired data. A significant part of these losses, such as fish wholly removed from gear was hidden. The traditional method of assessing losses by counting the remains of fish underestimated losses by 46%. The scaring effect of seal visits was not included. The model was also used for an analysis of the damage process. There were significant negative after-effects of seal visits on catch levels. It was also found that seal visits co-occur with salmon runs. It seems that seals prefer smaller to larger salmon when raiding traps. It is suggested that the traditional method of estimating losses by counting fish remains should be calibrated when used and that the new model with day-pairs should be tried in analyses of seal interference in other fishing operations.
Quantitative evaluation of oxidative stress status on peripheral blood in β‐thalassaemic patients by means of electron paramagnetic resonance spectroscopy
Authors: Filosa A. , Valgimigli L. , Pedulli G. F. , Sapone A. , Maggio A. , Renda D. , Scazzone C. , Malizia R. , Pitrolo L. , Lo Pinto C. , Borsellino Z. , Cuccia L. , Capra M. , Canistro D. , Broccoli M. , Soleti A. , Paolini M. 
Published: September 2005

SummaryHigh oxidative stress status (OSS) is known to be one of the most important factors determining cell injury and consequent organ damage in thalassaemic patients with secondary iron overload. Using an innovative hydroxylamine ‘radical probe’ capable of efficiently trapping majority of oxygen‐radicals including superoxide we measured, by electron paramagnetic resonance (EPR) spectroscopy, OSS in peripheral blood of 38 thalassaemic patients compared with sex‐/age‐matched healthy controls. Thalassaemic patients showed sixfold higher EPR values of OSS than controls. Significantly higher EPR values of OSS were observed in those with a severe phenotype (thalassaemia major, transfusion‐dependent) with respect to mild phenotype (sickle‐cell/β‐thalassaemia, not transfusion‐dependent) or thalassaemia intermedia. In patients with thalassaemia major, EPR values of OSS were positively correlated with serum ferritin and with alanine aminotransferase levels. In patients with sickle cell/β‐thalassaemia, there was no correlation between EPR value of OSS and all parameters considered. The type of chelating therapy (desferrioxamine or deferiprone) did not have an effect on EPR value of OSS. In conclusion, EPR ‘radical probe’ seems to be a valid innovative method to determine total OSS in patients affected by thalassaemia and might be used for evaluating new strategies of chelation, new chelators, or the efficacy of antioxidant formula.
Cloning and functional expression of venom prothrombin activator protease from Pseudonaja textilis with whole blood procoagulant activity
Authors: Filippovich Igor , Sorokina Natasha , Pierre Liam St , Flight Simone , Jersey John de , Perry Naomi , Masci Paul P. , Lavin Martin F. 
Published: September 2005

SummaryThe snake venom group C prothrombin activators contain a number of components that enhance the rate of prothrombin activation. The cloning and expression of full‐length cDNA for one of these components, an activated factor X (factor Xa)‐like protease from Pseudonaja textilis as well as the generation of functional chimeric constructs with procoagulant activity were described. The complete cDNA codes for a propeptide, light chain, activation peptide (AP) and heavy chain related in sequence to mammalian factor X. Efficient expression of the protease was achieved with constructs where the AP was deleted and the cleavage sites between the heavy and light chains modified, or where the AP was replaced with a peptide involved in insulin receptor processing. In human kidney cells (H293F) transfected with these constructs, up to 80% of the pro‐form was processed to heavy and light chains. Binding of the protease to barium citrate and use of specific antibodies demonstrated that γ‐carboxylation of glutamic acid residues had occurred on the light chain in both cases, as observed in human factor Xa and the native P. textilis protease. The recombinant protease caused efficient coagulation of whole citrated blood and citrated plasma that was enhanced by the presence of Ca2+. This study identified the complete cDNA sequence of a factor Xa‐like protease from P. textilis and demonstrated for the first time the expression of a recombinant form of P. textilis protease capable of blood coagulation.
Advances in the understanding of the congenital dyserythropoietic anaemias
Authors: Wickramasinghe Sunitha N. , Wood William G. 
Published: September 2005

SummaryThe congenital dyserythropoietic anaemias (CDAs) are a heterogeneous group of diseases in which the anaemia is predominantly caused by dyserythropoiesis and marked ineffective erythropoiesis; three major (types I, II and III) and several minor subgroups have been identified. Additional information on the natural history of these conditions, the beneficial role of splenectomy in CDA type II and efficacy of interferon‐α in type I have recently been reported. A disease gene has been localised to a chromosomal segment in the three major types and in CDA type I, a disease gene has been identified (CDANI). Mutations have been detected in both familial and sporadic cases but the predicted protein structure gives few clues as to its function. In both type I and II, there are cases unlinked to the identified localisations, suggesting genetic heterogeneity.
JAK2V617F mutation in essential thrombocythaemia: clinical associations and long‐term prognostic relevance
Authors: Wolanskyj Alexandra P. , Lasho Terra L. , Schwager Susan M. , McClure Rebecca F. , Wadleigh Martha , Lee Stephanie J. , Gary Gilliland D. , Tefferi Ayalew 
Published: September 2005

SummaryClinical correlates and long‐term prognostic relevance of the JAK2V617F mutation was studied in 150 patients with essential thrombocythaemia (ET) from a single institution and followed for a median of 11·4 years. During this period, thrombotic complications were documented in 62 patients (41·3%) and transformation into acute myeloid leukaemia (AML), polycythaemia vera (PV), or myelofibrosis with myeloid metaplasia (MMM) occurred in 4 (2·7%), 8 (5·3%), and 15 (10%) patients, respectively. JAK2V617F was detected in either archived bone marrow or blood cells from 73 patients (48·7%) but none were homozygous for the mutant allele. Parameters at diagnosis that were significantly associated with the presence of JAK2V617F included advanced age and higher counts of both haemoglobin and leucocytes. During follow‐up, patients with the mutation were more likely to transform into PV but the incidences of AML, MMM, or thrombotic events were similar between patients with and without the mutation. Multivariate analysis identified advanced age, higher haemoglobin level, and thrombosis history but not the presence of JAK2V617F as independent predictors of inferior survival. Therefore, although the presence of JAK2V617F in ET appears to promote a PV phenotype, it might not carry treatment‐relevant information.
Dissemination of fat in CSF: a common finding following translabyrinthine acoustic neuroma surgery*
Authors: Ray J. , D'Souza A.R. , Chavda S.V. , Walsh A.R., , Irving R.M. 
Published: September 2005

Objectives:  Following translabyrinthine craniotomy the temporal bone defect is commonly obliterated using a free autologous fat graft. In this series the dura was put back in place but not closed primarily. As the fat graft remains in direct contact with the cerebro spinal fluid (CSF) there is potential for dispersal of fat within the CSF space. This paper aims to determine the frequency of such CSF fat dissemination and its clinical significance.Design:  A retrospective review of translabyrinthine acoustic neuroma removal with free fat autograft obliteration of the temporal bone defect between the years 1997 and 2000.Setting:  Tertiary referral oto‐neurosurgical centre. Postoperative magnetic resonance (MR) imaging.Participants:  All translabyrinthine patients who had postoperative MR imaging were included. Twenty‐six cases were identified. Age range was 13–70 years. Fourteen were male patients.Main outcome measures:  Evidence of CSF fat dissemination on MR and patients’ clinical findings.Results:  Twenty‐two of the 26 scans (85%) demonstrated evidence of fat dissemination into the subarachnoid CSF spaces in the form of microemboli. The cerebellopontine angle was the most common site involved. No evidence of ventricular dilation or any other abnormality was noted. There was no relationship between the presence or extent of fat microembolization and the patients’ clinical course.Conclusions:  This study suggests that free fat placed in temporal bone defects commonly migrate into the subarachnoid space and subsequently move around in these spaces. This is not associated with any complications such as hydrocephalus, meningitis or prolonged postoperative headache.
How we do it: BAHA positioning in patients with microtia requiring auricular reconstruction
Authors: Bajaj Y. , Wyatt M.E. , Gault D. , Bailey C.M. , Albert D.M. 
Published: September 2005

Keypoints

Bilateral microtia is a challenging problem as these patients require both reconstruction of the auricle and rehabilitation of hearing.
Our aim was to find the optimal position for bone‐anchored hearing aids (BAHA) in patients requiring reconstruction of the auricle on the same side.
From an analysis of five such operated patients, it was found that siting a BAHA 6.5–7.0 cm from the position of the external auditory meatus is probably the correct distance to facilitate optimal auricular reconstruction.
Using these criteria, a group of another five patients with BAHA awaiting auricular reconstruction were reviewed. Of these only three (60%) have been satisfactorily sited.
How we do it: Free conchal cartilage revisited for primary reconstruction of attic defects in combined approach tympanoplasty
Authors: Koury E. , Faris C. , Sharma S. , Quinn S.J. 
Published: September 2005

Keypoints

There are concerns over the efficacy of free cartilage autografts in attic reconstruction (scutumplasty) for combined approach tympanoplasty (CAT).
Our operative technique uses free conchal cartilage autografts and an additional piece of conchal cartilage to buttress the reconstruction.
Of the 16 cases where this technique was used, there were two cases (13%) of failure of the attic reconstruction and a keratin pearl (residual disease) in one case (6%). This compares favourably with comparable series using a variety of reconstruction techniques.
How we do it: ionomeric cement to attach the stapes prosthesis to the long process of the incus
Authors: Tysome J.R. , Harcourt J. 
Published: September 2005

Keypoints

The successful use of glass–ionomeric cement in primary stapes surgery for attachment of the wire loop of the stapes prosthesis to the long process of the incus is reported.
Early hearing outcomes were similar in patients where cement was used for stapes prosthesis attachment compared with those with standard wire crimping technique.
Use of glass–ionomeric cement to attach the stapes prosthesis to the incus may prevent stapes prosthesis displacement and loosening.
This technique may decrease rates of revision stapes surgery and allow the safe use of magnetic resonance image scanning.
How we do it: Modified Wehrs incus ossiculoplasty
Authors: Al‐Qudah M. , Dawes P.J.D. 
Published: September 2005

Keypoints

Ossiculoplasty is commonly performed as part of tympanoplasty. Hydroxyapatite is a favoured material for ossicular protheses.
A modification to the Wehrs incus prosthesis® is described.
Twenty‐one procedures were performed on 20 patients and the results are reported.
On average there was a 4–5 dB closure of the air–bone gap (ABG), with patients having a hearing gain procedure averaging 11 dB closure. Air–bone gap closure to ≤20 dB was achieved between 78% (0.5, 1, 2 kHz average) and 60% (0.5, 1, 2, 4 kHz average) of patients and this was stable during long‐term follow‐up of the ABG.
Wehrs incus prosthesis® ossiculoplasty provides a reliable result following ossiculoplasty when autograft incus is not available.
Nasal surgery and eustachian tube function: effects on middle ear ventilation
Authors: Salvinelli F. , Casale M. , Greco F. , D'Ascanio L. , Petitti T. , Di Peco V. 
Published: September 2005

Objectives:  To investigate the effect of nasal obstruction surgery on eustachian tube function and middle ear ventilation.Design:  Prospective study.Setting:  University Campus Bio‐Medico of Rome.Participants:  Forty consecutive patients who underwent nasal surgery were evaluated for middle ear ventilation and tubal function.Main outcome measures:  Pre‐ and postoperative Valsalva and Toynbee tubal function tests, tympanometry and ear fullness sensation were evaluated for both ears of each patient.Results:  Results of postoperative tubal function tests were significantly better than preoperative ones (90% versus 46%; P < 0.001). No significant difference in tympanometric values was found. The majority (95%) of the patients reported a postoperative improvement of ear fullness sensation compared with preoperative (25%; P < 0.001).Conclusions:  Surgery for chronic nasal obstruction significantly improves clinical tubal function but 1‐month postoperative tympanometric findings remain almost the same.