bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome
Authors: Lembet Arda , Oktem Mesut , Yılmaz Zerrin , Kaya Umit , Derbent Murat 
Published: September 2003

AbstractA nonlethal form of multiple pterygium syndrome (MPS) was diagnosed prenatally at 16 weeks of gestation with associated Klinefelter syndrome in the same fetus. The ultrasound findings were cystic hygroma, hypertelorism, micrognathia, low‐set ears, flexion contractures of upper and lower extremities and rocker‐bottom foot. Genetic amniocentesis revealed a 47,XXY karyotype. After genetic counseling, the parents decided to have a therapeutic abortion. We presented this case for the purpose of further describing the early ultrasound findings and clinical features of multiple pterygium syndromes. Also, what makes our patient unique is the coincidental presence of Klinefelter syndrome with MPS. To our knowledge, this is the first case in the literature in which a 47,XXY karyotype has been found in a fetus with multiple pterygium syndrome. The importance of delineating the exact subtype of MPS and making a precise differential diagnosis becomes critical during the process of evaluation of patients with MPS. Copyright © 2003 John Wiley & Sons, Ltd.
Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis
Authors: Mazza V. , Ottolenghi C. , Di Monte I. , Baldassari F. , Rivasi F. , Volpe A. , Forabosco A. 
Published: September 2003

AbstractObjectivesWe present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations.MethodsThe conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21‐ and 23‐mm BPD (12+2 and 12+6 LMP‐based age) and the female genitalia were observed. Karyotype analyses was performed on amniotic fluid and it revealed a 46,XY complement without mosaicism. SRY was amplified by PCR for molecular analyses.ResultsWe observed a discordance between female phenotype detected at 21 and 23 mm of biparietal diameter (12+2 and 12+6 LMP‐based age) and male karyotype. In the child and the fetus, seminiferous cords were not recognisable, whereas rare Leydig cells and no germ cells could be identified. Internal and external genitalia were sexually ambiguous in the child and feminized in the fetus.ConclusionThis is the first case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis and it points to the importance of combining early analyses of genetic sex with sonography in the management of anomalies of sexual development, with particular regard to syndromes for which the risk of recurrence is little understood. Copyright © 2003 John Wiley & Sons, Ltd.
Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene
Authors: Sawai Hideaki , Kanazawa Nozomi , Tsukahara Yuki , Koike Kazunori , Udagawa Hideo , Koyama Koji , Mornet Etienne 
Published: September 2003

AbstractObjectivesHypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of tissue nonspecific alkaline phosphatase (TNSALP) activity. This disorder is caused by various mutations in the TNSALP gene. We report here hypophosphatasia in two siblings, both of them severely affected by the perinatal (lethal) type.MethodsWe diagnosed the first infant by clinical and radiologic manifestations, and laboratory findings. Laboratory findings were characterized by deficiency of serum alkaline phosphatase. Both parents and the second infant were then analyzed by molecular techniques.ResultsThe radiograph of the first infant showed severe hypomineralization of the skeleton. Molecular analysis of the second infant showed that this condition was caused by a homozygous single T nucleotide deletion at cDNA number 1559 (1559delT). Both parents were heterozygous carriers for this mutation, although they were not consanguineous.ConclusionThis mutation has been frequently found in Japanese hypophosphatasia patients, but this is the first observation of a homozygous deletion. This report shows that homozygosity for the 1559delT mutation of the TNSALP gene results in a severe lethal phenotype. Copyright © 2003 John Wiley & Sons, Ltd.
Effect of Two Thermal Regimes on the Muscle Growth Dynamics of Sea Bass Larvae, Dicentrarchus labrax L.
Authors: Ayala Mª. D. , López Albors O. , García Alcázar A. , Abellán E. , Latorre R. , Vázquez J. Mª. , Ramírez Zarzosa G. , Martínez F. , Gil F. 
Published: September 2003

SummaryMuscle growth was studied in larvae of sea bass, Dicentrarchus labrax L., reared at two temperatures: real ambient temperature (≅15°C during vitelline phase and increased gradually) and 19°C from fertilization until the end of larval development. Muscle cellularity, body length and body weight were measured.Early temperature influenced larval development and so, pre‐larval phase finished earlier at 19°C than at ambient temperature (4 and 6 days, respectively). Temperature also affected muscle growth such that at hatching and at mouth opening hypertrophy of muscle fibres was greater at 19°C (P < 0.05), whereas hyperplasia was similar in both groups. After 25 days, the cross‐sectional area of the white muscle was greater at 19°C (P < 0.05), which was mainly associated with a higher proliferation of new white muscle fibres. At this stage the body length was also higher at 19°C. Metamorphosis finished earlier in fish reared at 19°C (52 days) than at natural temperature (82 days). At this developmental stage body length and cross‐sectional area of the myotome were similar in both groups. However, muscle cellularity differed between groups. Thus, hypertrophy of muscle fibres was higher in fish reared at ambient temperature (P < 0.05), whereas proliferation of new muscle fibres was higher at 19°C (P > 0.05).
Ultrastructure of the Ducts of the Reproductive Tract of Males ofMelipona bicolor bicolorLepeletier (Hymenoptera, Apinae, Meliponini)
Authors: Dallacqua R. P. , Da Cruz‐Landim C. 
Published: September 2003

SummaryThe present paper describes the ultrastructural features of seminal vesicle, post‐vesicular vas deferens and ejaculatory duct ofMelipona bicolor bicolorfrom newly emerged and mature males. Although the results do not show very consistent morphological signs of secretory activity by the epithelium of these organs, lipidic droplets and lamellar granules present in mature males’ seminal vesicles and the vacuoles present in post‐vesicular vas deferens are probably secretion. Besides, the spermatozoa in the lumen are immersed in a material of characteristic structure, which must be produced in superior regions of the reproductive system of immature males, not studied here. The presence of sperm cells, apparently in cytoplasm vesicles of seminal vesicle and post‐vesicular vas deferens, suggests spermiophagy by their epithelium.
The Enhanced Expression of c‐Jun Immunoreactivity in the Adrenalectomized Gerbil Hippocampus
Authors: Lee I. S. , Nam Y. S. , Lee C. H. , Chung D. W. , Lee H. S. 
Published: September 2003

SummaryRecent in vitro and in vivo studies have shown that glucocorticoids have a profound influence on the survival of hippocampal neurones, and that the depletion of glucocorticoids as a result of adrenalectomy (ADX) reduces nerve growth factor levels in the hippocampus. It is also believed that ADX is associated with the seizure susceptibility of the Mongolian gerbil. In the present study, the choronological changes of c‐jun immunoreactivity were investigated after ADX in the hippocampal formations in the seizure‐prone gerbil model. In the sham hippocampus, c‐jun immunoreactivity was not observed in the neurones of the hippocampus proper and dentate gyrus. C‐jun immunoreactive neurones appeared 3 h after ADX in the neurones of the CA1 area and dentate gyrus, and these immunoreactivities peaked 24 h after ADX and then gradually decreased. These results suggest that, in the adrenalectomized gerbil, c‐jun may be expressed in the neurones of the hippocampus in compensation for glucocorticoid deficit. The result of enhanced c‐jun expression of the hippocampal formation provides anatomical support for the hypothesis that c‐jun may play a role in the reduction of seizure activity.
Orbital inflammation in a patient with extrascleral spread of choroidal malignant melanoma
Authors: Goh Alvin Sf , Francis Ian C , Kappagoda Medduma B , Filipic Marijan 
Published: September 2003

ABSTRACTAn elderly woman presented with fever, dehydration, orbital inflammation, total external and internal ophthalmoplegia and blindness, resembling the clinical appearance at presentation of severe orbital inflammatory disease or mucormycosis. Orbital computed tomography scanning demonstrated a retrobulbar orbital mass. Subsequent B‐scan ultrasound examination confirmed the orbital mass but also demonstrated a mass within the eye. At lateral orbitotomy, extrascleral spread of an entirely necrotic intraocular melanoma was demonstrated. As computed tomography scanning may not be able to delineate an entirely necrotic intraocular malignant melanoma, B‐scan ultrasonography should be considered in patients with orbital inflammation, especially in the presence of a retrobulbar mass.
The genetics of keratoconus
Authors: Edwards Matthew , McGhee Charles NJ , Dean Simon 
Published: September 2003

ABSTRACTKeratoconus is a relatively common, bilateral, non‐ inflammatory corneal ectasia. The aetiology of this condition is probably multifactorial, or it represents the final common pathway for a variety of different pathological processes. Although a familial history is present only in a minority of cases, one of the major aetiological factors is certainly genetic. This is evidenced by: the condition's familial inheritance; its discordance between monozygotic and dizygotic twins; and its association with other known genetic disorders such as Down's and Marfan's syndromes. In the keratoconic cornea, a possible genetic predisposition to increased sensitivity to apoptotic mediators by keratocytes has also been hypothesized. Differences in prevalence between ethnic groups have been identified. Recent advances in computerized topographic diagnostic techniques for keratoconus, including forme fruste keratoconus, enables higher accuracy in delineating abnormal from normal, and helps define study populations for genetic linkage studies. However, genetic heterogeneity and the phenotypic diversity of keratoconus means that genetic analysis continues to be a complex process. None the less, it is foreseeable that over the next decade, improved diagnostic techniques, in combination with molecular genetics, may reveal conclusive data on the precise nature of the genetic inheritance of keratoconus in specific populations. This review considers the evidence that suggests keratoconus is primarily an inherited condition, and examines research strategies aimed at unveiling the genetic predisposition, and the enigma of environmental influences on its phenotypic expression.
Comparison of three tests using the frequency doubling illusion to diagnose glaucoma
Authors: Maddess Ted , Severt William L , Stange Gert 
Published: September 2003

ABSTRACT Purpose: The introduction of the FDT perimeter prompted the comparison of three tests employing frequency doubling (FD) stimuli. These measures compared different visual field locations and contrast ranges. Frequency of seeing curves were examined for the method most similar to FDT. Methods: For 146 eyes the following were obtained: (i) contrast matches to two suprathreshold FD stimuli (normal subjects, ocular hypertensve suspects, primary open angle glaucoma subjects); (ii) two alternative forced choice (2AFC) thresholds for horizontally versus vertically orientated FD gratings; and (iii) contrast thresholds determined by method of adjustment (MOA) for five different stimulus types. Results: A model based on the worst of the MOA hemifield thresholds performed best. The suprathreshold contrast matching tests performed worst. Frequency of seeing curves were fitted for the 146 eyes of the 2AFC tests. Although the MOA thresholds were higher than the 2AFC thresholds (for normals mean ± SE, 8.47 ± 0.43 dL, P < 0.0000), the best diagnostic concordance was at lower limens (75% or 80% correct) of the fitted frequency of seeing curves. Conclusions: There was good diagnostic concordance between the MOA and 2AFC methods although the thresholds were 1.8‐fold different on a log‐scale. This suggests that the same neural mechanism mediates both thresholds for rapidly flickering, spatially coarse, patterns.
Pterygium in Australia: a cost of illness study
Authors: Wlodarczyk John , Whyte Patti , Cockrum Paul , Taylor Hugh 
Published: September 2003

ABSTRACT Purpose: The aim of this report was to describe the number of Australians affected by pterygium in recent years, treatment options, number of treatment encounters and costs of treatment. Method: A review of published literature was conducted to identify the prevalence of pterygium in Australian populations. Costs of primary care were based on national general practitioner (GP) survey data. Costs of surgical intervention were based on Health Insurance Commission claims data and Australian Institute of Health and Welfare National Hospital Morbidity Data. Results: Pterygium occurs in 1.1% of Australians. It is more prevalent in populations with higher exposure to ultraviolet radiation, and older men (occurring in 12% of males over 60 years). The estimated annual number of GP contacts was 58 900. Forty per cent of primary care contacts for pterygium were referred to an ophthalmologist and topical medication was prescribed by GPs in 32% of contacts. The estimated annual cost of GP visits, specialist visits and topical medication was AUD$3.2 m. There were 6997 claims for pterygium removal in 1999/2000 with 3192 conjunctival autografts. Rates of pterygium removal were highest in Queensland with 56 per 100 000 population. The annual costs of surgical intervention were estimated at AUD$4.8 m. Conclusions: The direct medical costs of pterygium in Australia are AUD$8.3 m annually. This is likely to be an underestimate of total cost because indirect costs such as loss of work time could not be measured. More data are needed on the long‐term benefits of pterygium intervention.
Frequency of sustained glaucomatous‐type visual field loss and associated optic nerve cupping in Beaver Dam, Wisconsin
Authors: Sponsel William Eric , Shoemaker John , Trigo Yolanda , Mensah Josepha , Rugwani Rajiv , Garrett Brian 
Published: September 2003

ABSTRACT Purpose: To determine the prevalence of persisting glaucomatous‐type visual field loss in a Midwestern American adult population, in association with four grades of disc cupping. Methods: On two separate occasions (1988–1990 and 1993–1995) 2955 predominantly Caucasian adults aged 43–84 provided medical history, underwent applanation tonometry, slit‐lamp examination, quantitative suprathreshold perimetry and stereoscopic disc analysis as part of the National Institutes of Health‐sponsored Beaver Dam Eye Study. Those demonstrating evidence of glaucomatous‐type visual field loss at both visits were the subject of the present analysis. Among these individuals, associations were determined for four categories of optic disc cupping (vertical cup/disc < 0.5, > 0.5, > 0.6, > 0.8), intraocular pressure, blood pressure, cardiovascular pathology and prior glaucoma diagnosis. Results: Of the 2955 subjects assessed, 120 (4%; 57 women, 63 men) demonstrated glaucomatous‐type visual field defects at each visit. Fifty‐five of these 120 (2% of the tested population) also exhibited some degree of disc cupping in a related eye at both visits. Among these 2%, positive associations relating the extent of field loss, cupping and intraocular pressure were confirmed, but the majority in each cupping category had normal eye pressures. Only seven of the 120 were aware of the presence or suspicion of eye disease prior to the screening. Conclusions: A majority of those found to have visual field loss and optic nerve cupping persisting together in the same eye after 3–5 years had normal pressures in each eye at both visits. Despite good access to medical care, very few who demonstrated persisting cupping and field loss (even among those with elevated eye pressure) were aware of their ocular condition through prior contact with an eye care professional.
Uveitis in Herpes zoster ophthalmicus
Authors: Thean Janice HJ , Hall Anthony JH , Stawell Richard J 
Published: September 2003

ABSTRACT Background: Herpes zoster ophthalmicus (HZO) is a common condition occurring mostly in healthy people. Approximately 50% of HZO patients develop ocular complications, with iridocyclitis occurring in about 43%. This study aimed to identify the clinical features of uveitis secondary to HZO. Method: A retrospective case study was performed of consecutive patients with HZO and secondary uveitis seen in the past 10 years at the Royal Victorian Eye and Ear hospital as well as those seen in the private clinics of two ocular immunology consultants. The information collected included the time relationship between onset of rash and uveitis, duration and treatment of the uveitis, and rate and nature of ocular complications. Results: Thirty‐four patients fulfilled the enrolment criteria. The age range was from 24 to 83 years with an average age of 62.5 years. Of these, 28 patients (82%) were immunocompetent and six patients (18%) had underlying immunosuppression from various causes. Twenty‐three patients had a uniphasic episode of uveitis and 11 patients (32%) had a chronic relapsing course of uveitis. The duration of the uveitis was variable, ranging from 1 week to 3 years, with 68% of episodes resolving within 2 months. Nineteen patients (56%) developed secondary glaucoma. Five of these patients (26%) required trabeculectomies to control their intraocular pressures. Three patients (9%) had bilateral ocular involvement and five patients (15%) had a reduction in final Snellen visual acuity of more than two lines. Conclusion: In this study, most patients were immunocompetent individuals. The course of the uveitis was generally uniphasic in nature and of a relatively short duration. There was a high incidence of secondary glaucoma with 15% of all patients requiring surgical intervention. The visual loss in the five patients was not directly related to the uveitis and secondary glaucoma but to other complications associated with HZO.
Multifocal chorioretinal atrophy associated with Herpes zoster ophthalmicus
Authors: McKelvie Penelope A , Francis Ian C , Watson Stephanie , Nuovo Gerard 
Published: September 2003

ABSTRACTA 73‐year‐old woman developed multiple depigmented lesions in the fundus 4–6 months after an episode of acute Herpes zoster ophthalmicus. Post‐mortem examination of the globe 15 years after this acute episode confirmed multiple old chorioretinal scars probably due to vasculitis of the short posterior ciliary arteries and branches. Patchy old infarcts were also noted in the iris.
Fatigue limit estimated using finite lives
Authors: LORÉN S. 
Published: September 2003

ABSTRACTFor metallic material one is interested in estimating the fatigue limit although it is impossible to test if a specimen has infinite life. In this paper two models are compared. One model estimates the fatigue limit and another estimates the endurance limit. The model which estimates the endurance limit is a model which only uses the information that a specimen has broken or not broken at a certain stress level. The model which estimates the fatigue limit also uses the information about when the specimen is broken, i.e., after how many cycles the specimen breaks. The two models are compared, both on real and simulated staircase tests. It is shown that it is possible to estimate the distribution of the fatigue limit although the fatigue limit itself is impossible to observe. When the two models give very different estimates it indicates that the chosen run‐out level is too low.
A fracture mechanics analysis on the fatigue behaviour of cruciform joints of duplex stainless steel
Authors: INFANTE V. , BRANCO C. M. , MARTINS R. 
Published: September 2003

ABSTRACTThe paper presents the results of an experimental and numerical study on the fatigue behaviour of cruciform load carrying joints made from the duplex stainless steel and failing from the weld root through the weld metal. Fatigue crack growth (FCG) data, obtained in specimens of the weld metal, are presented, as well as threshold data, both obtained for R= 0 and 0.5. The influence of stress ratio is discussed, and the FCGR results are compared with data for low carbon structural steels. S–N data were obtained in the joints, both for R= 0.05 and 0.5, and the fatigue cracking mechanisms were analysed in detail with the SEM. It was found that the cracks propagated very early in the lifetime of the joints, under mixed mode conditions (I + II), but the mode I component was found to be predominant over mode II. The geometries of the cracks were defined in detail from measurements taken in the fracture surfaces. A 2D FE analysis was carried out for the mixed mode inclined cracks obtained at the weld root, and the J‐integral formulations were obtained as a function of crack length and crack propagation angle. The values of the crack propagation angle, θi, were obtained for the Jmax conditions, and it was found that, in the fatigue tests, the cracks propagated in directions very close to the predicted directions of maximum J. KI and KII formulations were obtained, and the KI data were compared with the formulations given in the PD6493 (BS7910) document, and some differences were found. A more general formulation for K under mixed mode conditions was derived. The derived K solutions were applied to predict the fatigue lives of the joints under crack propagation, and an extremely good agreement was found with the experimental results obtained in the fatigue tests.
Multiple mechanisms controlling fatigue crack growth
Authors: SADANANDA K. , VASUDEVAN A. K. 
Published: September 2003

ABSTRACTRecognizing that fatigue is a two‐parameter problem requiring two load parameters to define cyclic loads unambiguously, a unified approach has been developed to account for crack growth behaviour in terms of ΔKandKmax. Since both driving forces govern the crack growth rate, any analysis based on either ΔKorKmaxwill provide only partial information about the fatigue behavior of materials. It is shown thatΔK–Kmaxplots and the associated crack growth trajectory maps reflect the basic mechanisms that contribute to crack growth in a material. These plots also provide a convenient basis to recognize the changes in the micromechanisms that can occur as a function of load ratio or crack growth rate, or both. Taking examples from the literature, crack growth trajectory maps are provided showing such changes in the governing mechanisms of crack growth. It is shown that theΔK–Kmaxapproach is not an alternative to crack closure models, but it reflects the intrinsic material behaviour that must be understood before reliable crack prediction models can be developed.