bluuebunny/crossref_metadata_2025_split huggingface dataset:
An atypical contiguous gene syndrome: molecular studies in a family with X–linked Kallmann's syndrome and X‐linked ichthyosis
Authors: Maya‐Nuñez Guadalupe , Torres Leda , Ulloa‐Aguirre Alfredo , Carlos Zenteno Juan , Cuevas‐Covarrubias Sergio , Saavedra‐Ontiveros Dolores , Kofman‐Alfaro Susana , Pablo Méndez Juan 
Published: July 2002

BACKGROUND AND OBJECTIVEKallmann's syndrome (KS) is characterized by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. This entity can be associated with X‐linked ichthyosis (XLI) in a contiguous gene syndrome. Genetic defects have been demonstrated on the Xp22.3 region explaining the presence of one or both entities in affected individuals. In this report we describe the molecular findings in four patients, pertaining to a three generation family, with KS which was associated with XLI in two of them.MEASUREMENTSEnzymatic activity of steroid sulphatase was measured in leucocytes. Polymerase chain reaction of the 14 exons of the Kallmann gene (KAL) and of the 5′ and 3′ extremes of the steroid sulphatase gene was performed in genomic DNA. PCR products of the 14 exons of the KAL gene were purified and sequenced.RESULTSAbsence of steroid sulphatase activity and a complete deletion of the STS gene were demonstrated in both patients with XLI. In all subjects, the 14 KAL gene exons amplified in a normal fashion; no mutation was documented after sequencing all exons.CONCLUSIONSAlthough it has been proposed recently that the X‐linked form of the disease accounts for the minority of patients with Kallman's syndrome, the pedigree chart of this family demonstrates this inheritance pattern. Various possibilities are mentioned in order to explain the absence of mutation in the KAL gene. The coexistence, in this family, of Kallman's syndrome individuals and patients with Kallman's syndrome and X‐linked ichthyosis is discussed.
Comparison of monthly intramuscular injections of Sandostatin LAR with multiple subcutaneous injections of octreotide in the treatment of acromegaly; effects on growth hormone and other markers of growth hormone secretion
Authors: Hunter  , Shaw  , Lee  , Wood  , Atkinson  , Bevan  
Published: July 2002

OBJECTIVETo compare the effects of monthly intramuscular injections of a long acting preparation of octreotide, Sandostatin LAR, with multiple daily subcutaneous injections of octreotide and to study the interrelationships between mean 24 h growth hormone profile, serum total and free IGF‐1 levels, 24 h urinary growth hormone levels and serum IGFBP‐3.DESIGNPatients were assessed by 24 h GH profile off octreotide or any other GH modifying drug therapy; on subcutaneous octreotide (200–600 μg daily in divided doses for six weeks); and 28 days after the second of two injections of Sandostatin LAR (20 mg by intra‐muscular injection) administered 28 days apart. Serum total and free IGF‐1, serum IGFBP‐3 and 24 h urinary GH were also measured on each occasion.RESULTSSandostatin LAR was well tolerated. None of the patients reported any adverse effect and all completed the study uneventfully. Mean GH off treatment was 10.1 ± 3.0 μg/l falling equally significantly (P < 0.05) during therapy with subcutaneous octreotide to 3.0 ± 0.7 μg/l and Sandostatin LAR to 2.8 ± 0.7 μg/l. Fasting 0900 h GH was significantly reduced (P < 0.05) on Sandostatin LAR (3.0 ± 0.7 μg/l) compared with subcutaneous octreotide (5.1 ± 1.2 μg/l). Mean total IGF‐1 off treatment was 658.6 ± 56.1 μg/l and was reduced to a comparable extent with subcutaneous octreotide and Sandostatin LAR (466.0 ± 59.7 and 448.6 ± 59.5 μg/l respectively; both P < 0.05). Free IGF‐1 off treatment was 3.1 ± 0.6 μg/l and was reduced equally by subcutaneous octreotide and Sandostatin LAR (1.2 ± 0.2 and 1.2 ± 0.2 μg/l; both P < 0.05). IGFBP‐3 was reduced to a greater extent during Sandostatin LAR than during subcutaneous octreotide (4518.2 ± 247.3 vs 5132.8 ± 280.7 μg/l; P < 0.05). Twenty‐four hour urinary GH excretion was reduced to a comparable extent with both therapies. Highly significant positive correlations were found between mean 24 h GH levels and free IGF‐1 (r = 0.66, P < 0.0001) and 24 h urinary GH excretion (r = 0.94, P < 0.0001). The relationships between mean 24 h GH levels and total IGF‐1 and IGFBP‐3 although significant showed less powerful correlations.CONCLUSIONSThese results suggest that Sandostatin LAR is well tolerated and as effective as subcutaneous octreotide. In addition, urinary growth hormone and serum free IGF‐1 may prove valuable for outpatient follow‐up of acromegalic patients, as both correlate well with mean 24 h serum growth hormone levels.
Estimating woody and herbaceous vegetation cover from time series satellite observations
Authors: Roderick Michael L. , Noble Ian R. , Cridland Shane W. 
Published: July 2002

SummaryIn this paper we test a method to estimate the tree and grass vegetation cover over Australia from satellite‐derived normalized difference vegetation index (NDVI) time series (monthly 1981–91, ≈5 km pixels) observations. The evergreen cover is assumed to track along the base of the NDVI time series, which is assumed to be equivalent to the woody vegetation cover. The base of the NDVI time series is estimated using modifications to a classical econometric model (i.e. time series is the sum of trend, seasonal and random components). Estimates of the average evergreen component during 1982–85 and 1986–89 were generally consistent with known vegetation distributions. Changes in evergreen cover were largely restricted to the south‐west and south‐east of Australia. Those changes were largely the result of differences in rainfall between the two periods. The proposed method for estimating woody vegetation cover is found to be generally robust. However, there are some regions where the grass (or pasture) is mostly evergreen. Some possible refinements are proposed to handle such cases.
Characterization of five tomato phospholipase D cDNAs: rapid and specific expression of LePLDβ1 on elicitation with xylanase
Authors: Laxalt Ana M. , Ter Riet Bas , Verdonk Julian C. , Parigi Lisa , Tameling Wladimir I. L. , Vossen Jack , Haring Michel , Musgrave Alan , Munnik Teun 
Published: July 2002

SummaryPhospholipase D (PLD, EC 3.1.4.4.) has been implicated in a variety of plant processes, including signalling. In Arabidopsis thaliana a PLD gene family has been described and individual members classified into α‐, β‐ and γ‐classes. Here we describe a second PLD gene family in tomato (Lycopersicon esculentum) that includes three α‐ and two β‐classes. Different expression patterns in plant organs were observed for each PLD. In testing a variety of stress treatments on tomato cell suspensions, PLDβ1 mRNA was found to rapidly and specifically accumulate in response to the fungal elicitor xylanase. The greatest increase was found 2 h after treatment with 100 µg ml−1 xylanase (ninefold). In vivo PLD activity increased nearly threefold over a 1.5 h period of treatment. When the elicitor was injected into tomato leaves, PLDβ1 mRNA accumulation peaked at 2 h (threefold increase), before decreasing to background levels within 72 h. Mutant, non‐active xylanase was as effective as the active enzyme in eliciting a response, suggesting that xylanase itself, and not the products resulting from its activity, functioned as an elicitor. When chitotetraose was used as elicitor, no PLDβ1 mRNA accumulation was observed, thus it is not a general response to elicitation. Together these data show that PLD genes are differentially regulated, reflecting potential differences in cellular function. The possibility that PLDβ1 is a signalling enzyme is discussed.
Chronic Idiopathic Hyponatremia in Older People Due to Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) Possibly Related to Aging
Authors: Anpalahan Mahesan 
Published: July 2002

OBJECTIVE: To determine the prevalence of syndrome of inappropriate antidiuretic hormone secretion (SIADH) among older hyponatremic patients in a subacute geriatric facility, to identify patients with no apparent cause for the SIADH (idiopathic SIADH), and to determine their clinical characteristics.DESIGN: Prospective analysis of a cohort of older patients over a period of 3 months.SETTING: Two wards in a geriatric rehabilitation hospital.PARTICIPANTS: Patients aged 65 and older.MEASUREMENTS: All patients with hyponatremia (serum sodium <135 mmols/l) were clinically examined and relevant investigations were performed to determine the etiology of hyponatremia. Patients were observed for symptoms of hyponatremia. Hyponatremia was classified into possible SIADH and non‐SIADH types. Patients with SIADH type hyponatremia were screened for possible causes. Past medical histories were obtained from the general practitioners.RESULTS: Of the 172 patients studied, 43 (25%) had hyponatremia. It was symptomatic in only four patients. Twenty‐two (51%) had SIADH etiology. In nine (mean age 84 ± 4), no cause for the SIADH was evident (presumed idiopathic SIADH) and in seven, hyponatremia (128–135 mmols/l) was chronic (12 to 72 months). Further reduction in serum sodium, which was symptomatic, was noted in two of these patients with the onset of pneumonia.CONCLUSION: Most older hyponatremic patients in a rehabilitation setting seem to have SIADH etiology. This study confirms the presence of a group of older individuals with chronic idiopathic hyponatremia in whom the underlying mechanism may be SIADH related to aging. Hyponatremia is modest in these patients and has little clinical significance. However, they may be at increased risk of developing symptomatic hyponatremia with intercurrent illnesses.
A versatile instrument for structural studies of interfaces in ultrahigh vacuum (abstract)
Authors: Clausnitzer M. , Pauly T. , Materlik G. 
Published: July 2002

Structural studies of interfaces with synchrotron x-radiation (SXR) are presently carried out with several different methods which were developed in connection with SXR over the past decade: dynamical x-ray diffraction using standing wavefields (XSW), kinematical surface diffraction (KSD), Fresnel reflection (FR), and absorption spectroscopy (SEXAFS, SXANES). These methods can determine different, and often complementary parameters of a system such as short-/long-range order, relaxation relative to bulk, structure normal/parallel to surface, valence state of surface atoms, roughness of a buried interface, etc. Accordingly, these different principles have also been combined to form new methods such as diffraction of evanescent x rays during total external reflection (DEXTER) and reflection EXAFS (REFLEXAFS). It is, therefore, highly desirable to have the opportunity to study the same interface system with different methods. On the other hand, preparation of a system in ultrahigh vacuum requires in most cases expensive bulky equipment and time consuming techniques. These considerations call for a setup which provides different experimental options. We have, therefore, installed at the beamline ROEMO I at HASYLAB a versatile UHV system for interface studies. A sample can either be prepared inside a chamber with three Knudsen cells for MBE growth and standard equipment for cleaning, heating and surface characterization by RHEED, or inside a chamber for aggressive gases. The first one is installed outside the interlock area providing access also when the ROEMO beam is on and the second one inside the interlock area.
From either chamber the sample can be transferred into an analysis chamber at the ROEMO I station or into a transportable baby chamber. The analysis chamber can be used for measurements with standing waves, absorption spectroscopy and reflectivity measurements. Electrons are detected with a spherical analyzer and photons outside the vacuum through Be windows with a NaI detector for reflectivity and with a Si(Li) for scattered radiation. The baby chamber can be transported to other stations at HASYLAB which are equipped for kinematical surface diffraction and measure with high angular precision the intensity/angle correlation of many (often several hundred) different reflections. The baby chamber approach is used to avoid heavy and expensive diffractometer designs or sophisticated UHV angular feedthroughs. The baby chamber can also be used to measure with XSW, FR, and DEXTER. The performance of the system will be illustrated together with first results on different detection schemes.
Diagnostics for ITER; A status report (invited)
Authors: Young K. M. 
Published: July 2002

The protocol agreement allowing the design of the International Thermonuclear Engineering Reactor (ITER) to proceed will be signed early this year. There is already a small U.S. Program evaluating diagnostic capability for this device and there will shortly be an international effort on diagnostics to ensure satisfactory integration of the diagnostic systems with all the complex systems that will be developed for this large ignited tokamak. The diagnostic studies, at least initially, will depend heavily on the output information provided by the conceptual design activity (CDA). ITER provides a very large plasma (R=6.0 m, a=2.15 m) with high average density (&lt;ne≳∼1.0×1020 m−3), and temperatures (&lt;Te≳∼&lt;Ti≳≥10 keV). It is highly elongated and could have primarily noninductive current drive so that its pulse length can be very long (t≤2 weeks) to allow significant blanket testing in its technology phase. These parameters lead to considering new diagnostic methods for some measurements. A set of specifications for the diagnostic measurements were developed, and a corresponding set of diagnostic instruments was proposed during the CDA. The specifications for spatial and temporal measurement of the plasma parameters are very similar to those achieved on present day large tokamaks, where, on the whole, the access to the plasma is much more open and there is a negligible radiation background in which the diagnostics have to perform.
The specifications require that many diagnostic signals participate in the control of complex fuelling, heating, and current drive schemes, so it is clear that the diagnostic design issues for these burning plasmas must be addressed early in ITER’s design life. This is particularly true because penetrations through the first wall are at a premium and only small holes can be tolerated because of radiation streaming. The needs for Research and Development, necessary to demonstrate the feasibility of diagnostic techniques for the ITER plasma parameters and the radiation environment were also addressed. In the area of radiation impact on diagnostic components, some priorities have been set and testing programs have been started. This report will address the present activities on diagnostics in the U.S. Program to address some of the problems left over from the CDA.
The minimization of ac phase noise in interferometric systems
Authors: Filinski I. , Gordon R. A. 
Published: July 2002

A simple step-by-step procedure, including several novel techniques discussed in the Appendices, is given for minimizing ac phase noise in typical interferometric systems such as two-beam interferometers, holographic setups, four-wave mixers, etc. Special attention is given to index of refraction fluctuations, direct mechanical coupling, and acoustic coupling, whose importance in determining ac phase noise in interferometric systems has not been adequately treated. The minimization procedure must be carried out while continuously monitoring the phase noise which can be done very simply by using a photodiode measurement of the interferometer output. Supplementary measurements using a microphone and accelerometer will also be helpful in identifying the sources of phase noise. Emphasis is placed on new techniques or new modifications of older techniques which will not usually be familiar to most workers in optics. Thus, the necessity of eliminating the effects of index of refraction fluctuations which degrade the performance of all interferometers is pointed out as the first priority. A substantial decrease of the effects of all vibrating, rotating, or flowing masses (e.g., cooling lines) in direct contact with the optical table will also have to be carefully carried out regardless of the type of interferometric system employed.
It is recommended that this be followed by a simple, inexpensive change to a novel type of interferometer discussed in Appendix A which is inherently less sensitive to mechanical vibration. Such a change will lead to a reduction of both low-frequency and high-frequency ac phase noise by more than an order of magnitude and can be carried out for all interferometers with the exception of multiple pass optical systems and high-resolution FFT spectrometers. It is pointed out that most homemade air bladder vibration isolators are used incorrectly and do not provide sufficient reduction in the contribution of floor vibrations to phase noise. Several simple trampoline-type air bladder vibration isolator systems are described which are comparable in performance to commercial systems. With the exception of very nonrigid or undamped optical tables, the dominant source of ac phase noise at this point will usually be due to acoustic coupling to the optical components and mounts themselves. This means not only that the optical components and mounts must be rigid but that the mechanical coupling between the table and the mounts, as well as the coupling between the mounts and components themselves, be as rigid as possible.
An additional damping of optical mounts beyond that generally found in commercial mountings will also have to be carried out to obtain a further reduction of phase noise. A simple damping technique employing an additional mass and an intermediate damping layer is described which will significantly improve the performance of both homemade and commercial optical mounts. Similar damping techniques which are especially suitable for homemade optical tables and breadboards are also considered.
The Intergroup Rhabdomyosarcoma Study Group (IRSG): Major Lessons From the IRS‐I Through IRS‐IV Studies as Background for the Current IRS‐V Treatment Protocols
Authors: Raney R. Beverly , Maurer Harold M. , Anderson James R. , Andrassy Richard J. , Donaldson Sarah S. , Qualman Stephen J. , Wharam Moody D. , Wiener Eugene S. , Crist William M. 
Published: July 2002

Purpose. To enumerate lessons from studying 4292 patients with rhabdomyosarcoma (RMS) in the Intergroup Rhabdomyosarcoma Study Group (IRSG, 1972–1997).Patients. Untreated patients < 21 years of age at diagnosis received systemic chemotherapy, with or without irradiation (XRT) and/or surgical removal of the tumor.Methods. Pathologic materials and treatment were reviewed to ascertain compliance and to confirm response and relapse status.Results. Survival at 5 years increased from 55 to 71% over the period. Important lessons include the fact that extent of disease at diagnosis affects prognosis. Re‐excising an incompletely removed tumor is worthwhile if acceptable form and function can
be preserved. The eye, vagina, and bladder can usually be saved. XRT is not necessary for children with localized, completely excised embryonal RMS. Hyperfractionated XRT has thus far not produced superior local control rates compared with conventional, once‐daily XRT. Patients with non‐metastatic cranial parameningeal sarcoma can usually be cured with localized
XRT and systemic chemotherapy, without whole‐brain XRT and intrathecal drugs. Adding doxorubicin, cisplatin, etoposide, and ifosfamide has not significantly improved survival of patients with gross residual or metastatic disease beyond that achieved with VAC (vincristine, actinomycin D, cyclophosphamide) and XRT. Most patients with alveolar RMS have a
tumor‐specific translocation. Mature rhabdomyoblasts after treatment of patients with bladder rhabdomyosarcoma are not necessarily malignant, provided that the tumor has shrunk and malignant cells have disappeared.Discussion. Current IRSG‐V protocols, summarized herein, incorporate recommendations for risk‐based management. Two new agents, topotecan and irinotecan, are under investigation for patients who have an intermediate or high risk of recurrence.
Demographic and epidemiological analysis of patients referred to speech and language therapy at eleven centres 1987‐95
Authors: Petheram Brian , Enderby Pam 
Published: July 2002

AbstractThis retrospective study analyses data collected on an information system developed specifically for the use of speech and language therapists and the management of their services. The age, gender, medical diagnoses, and speech and language therapy diagnoses associated with the referral of >73 000 clients to 11 speech and language therapy providers between 1987 and 1995 are reviewed. In 1987, 34.8% of the patients referred to speech and language therapy did not have a formal medical diagnosis and this was commonly associated with children with speech and language delay or disorders. However, by 1995, the group not having a formal medical diagnosis had fallen to 17.2% of referrals. Whereas in 1987, 22.7% of the referrals with a medical diagnosis to speech and language therapy were associated with stroke, this has increased in 1995 to 32.0%. Dysphagia represented 0.94% of the referrals in 1987 but 20.6% of referrals in 1995. The gender balance of referrals has remained remarkably constant over the period of study: 60% of referrals were male and 40% female. Whilst nearly half of all referrals were aged under 5 years, the proportion of all referrals represented by this age group has fallen slightly over these years. This has been matched by an increase in the proportion of the caseload aged over 70.
Antagonistic Effects of Hydrogen Peroxide and Glutathione on Acclimation to Excess Excitation Energy in Arabidopsis
Authors: Karpinska Barbara , Wingsle Gunnar , Karpinski Stanislaw 
Published: July 2002

AbstractThe redox status of the quinone B (QB) and plastoquinone (PQ) pools plays a key role in the cellular and systemic signalling processes that control acclimatory responses in plants. In this study, we demonstrate the effects of hydrogen peroxide and glutathione on acclimatory responses controlled by redox events in the proximity of the QB‐PQ pools. Our results suggest that the chloroplast is a sink for H2O2 and that, paradoxically, high concentrations of H2O2 in the chloroplast protect the photosynthetic apparatus and the plant cell from photoinhibition and photooxidative damage. Excess glutathione, however, caused an effect antagonistic to that observed for high H2O2. An explanation of this apparent paradox and a hypothetical redox‐signalling model are suggested.