Search results for "transition"
showing 10 items of 3988 documents
Mutation analysis in myophosphorylase deficiency (McArdle's disease).
1998
Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical cliniclal presentation of myophos-phorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophorsphorylase gene. Four patients were homozygous for a nonsense mutation Arg49Stop that has been reported to be the most common mutation in white patients. Two affected siblings were compound heterozygotes for a novel missense mutation Gly685Arg and the nonsense mutation Arg49Stop. One patient carried a novel nonsense mutation Arg575Stop and a previously…
Correlation between GP-170 expression, prognosis, and chemoresistance of superficial bladder carcinoma.
2003
To study GP-170 in superficial bladder cancer at initial diagnosis and at recurrence and to evaluate if intravesical chemoprophylaxis modifies the expression of GP-170 in tumor recurrences. GP-170 was retrospectively assessed in 160 patients affected by primary superficial transitional cell carcinoma of the bladder and followed for up to 10 years. Eighty-four patients (52.5%) recurred after transurethral resection (TUR). Adjuvant intravesical chemotherapy after TUR was adopted in 52 patients. The correlations between GP-170 and G-grade, T-category, risk of recurrence and of progression, and adoption of adjuvant intravesical chemotherapy were investigated. The correlations between variations…
p53 immunoreactivity in biopsy specimens of T1G3 transitional cell carcinoma of the bladder--a helpful parameter in guiding the decision for or again…
2000
The aim of this study was to determine whether p53 is helpful in making the decision to undergo cystectomy in T1, G3 transitional cell carcinoma (TCC) of the bladder, by prospectively comparing the p53 status of bladder biopsies with the histology and p53 status of the corresponding cystectomy specimens. From January 1996 to August 1997, 38 consecutive patients with T1G3 TCC at 6 different centres were enrolled into the study. Bladder biopsies and cystectomy specimens were examined with three different antibodies against p53. The p53 status of each bladder biopsy was compared with p53 status, tumour stage and grade of the cystectomy specimen. An independent evaluation of the histology and i…
Morphological variability of Upper Paleolithic and Mesolithic skulls from Sicily
2020
Scenarios for the dispersal of Homo sapiens in Southern Europe and in the Mediterranean basin have been uncertain, given the scarceness of osteological samples and the simplicity of the proposed archaeologically-based settlement hypotheses. According to available data, the first anatomically modern humans entered Sicily during the Late Pleistocene, coming from the Italian peninsula. A presumably small Late Epigravettian population colonised coastal sites. Later, North-Western archaeological horizons gave hospitality to a significant Mesolithic expansion. In order to verify a hypothesis of continuity in the peopling of the island, we analyzed Sicilian skulls from the Late Epigravettian site …
Quantifying foot placement variability and dynamic stability of movement to assess control mechanisms during forward and lateral running
2015
Research has indicated that human walking is more unstable in the secondary, rather than primary plane of progression. However, the mechanisms of controlling dynamic stability in different planes of progression during running remain unknown. The aim of this study was to compare variability (standard deviation and coefficient of variation) and dynamic stability (sample entropy and local divergence exponent) in anterior–posterior and medio-lateral directions in forward and lateral running patterns. For this purpose, fifteen healthy, male participants ran in a forward and lateral direction on a treadmill at their preferred running speeds. Coordinate data of passive reflective markers attached …
Biomechanical analysis of different starting strategies utilized during cross-country skiing starts
2016
The present study was designed to analyse and compare the kinetics and kinematics associated with three different starting strategies during classic cross-country ski racing. Inside a ski tunnel, 12 elite male skiers performed three sets of three 38 m starts. Each set included one start using: double poling only (DP), diagonal stride only (DIA) and freely chosen (FREE) (i.e. where subjects used the strategy or combination of strategies they felt was fastest) in random order. The first 18 m was performed on a series of force plates that measured horizontal and vertical forces followed by 20 m of a standard snow track. Additionally, cycle characteristics and joint angles were measured. DIA an…
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
2007
Peters, T.A./0000-0001-8443-5500; van Beersum, Sylvia E.C./0000-0002-4552-2908; Cremers, Frans/0000-0002-4954-5592; Roepman, Ronald/0000-0002-5178-8163 WOS: 000247619800019 PubMed: 17558407 Protein- protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis ( NPHP), Leber congenital amaurosis, Senior- Loken syndrome ( SLSN) or Joubert syndrome ( JBTS)(1-6). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1- like protein ( RPGRIP1L) is a homolog of RPGRIP1 ( RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis(7,8). We show t…
The main trends in the palaeodemography of the 7th-18th century population of Latvia
2006
The study represents palaeodemographic research of osteological material of 3304 individuals from the funds of the Anthropological Laboratory of the Institute of History of the University of Latvia in Riga, dating from the 7 th to the 18 th century AD. Compensated life expectancy at birth is varying between 20.3 and 22.2 years during the research period. Crude mortality has changed between 49.3 and 45 %o. In the early period (7 th - 13 th century) there is a significant male prevalence (2.2 - 1.4); female life expectancy at the age of 20 is on average 6.6 years less than for males. This difference decreases to 5.4 years in the 13 th - 18 th century. According to historical demography, femal…
Facilitating holistic continuity of care for older patients: Home care nurses' experiences using checklists.
2019
Aims and objectives To explore home care nurses' experiences of implementation and use of checklists developed for improving continuity of care for older patients (65+ years). Background The Norwegian Coordination Reform was implemented to improve coordination between hospitals and communities and facilitate a quicker return to home community after hospital discharge. To follow-up, national learning networks were initialised to improve pathways for chronically ill older patients, including the development and use of standardised checklists. Design An explorative qualitative design was chosen. Methods Three focus group interviews were conducted, including 18 registered nurses from eight muni…
In-Vivo Estimation and Repeatability of Force-Length Relationship and Stiffness of the Human Achilles Tendon using Phase Contrast MRI
2008
Purpose To devise a method using velocity encoded phase contrast MRI and MR-compatible dynamometry, for in vivo estimation of elastic properties of the human Achilles tendon and to assess within-session and day-to-day repeatability of this technique. Materials and Methods Achilles tendon force and calcaneus-movement-adjusted displacement were measured during a submaximal isometric plantarflexion in 4 healthy subjects, four repeated trials each. The measured force-length (F-L) relationship was least-squares fitted to a cubic polynomial. Typical error was calculated for tendon displacement at multiple force levels, stiffness from the “linear region,” and transition point from the displacement…