Search results for "Patella"

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

1998

The LIM-homeodomain protein Lmxlb plays a central role in dorso-ventral patterning of the vertebrate limb1. Targeted disruption of Lmxlb results in skeletal defects including hypoplas-tic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NFS). We show that LMX1B maps to the NFS locus and that three independent NFS patients carry de novo heterozygous mutations in this gene. Functional studies show that one of these mutations disrupts sequence-specific DNA binding, while the other two mutations result in premature terminatio…

Variazione dei livelli di concentrazione di IPA in Patella coerulea nelle acque costiere siciliane

2006

Combined Rupture of the Right Anterior Cruciate Ligament and Patellar Tendon on a 28-Year-Old Spanish Professional Handball Player Successfully Treat…

2022

Background: We present a case of combined rupture of the right anterior cruciate ligament (ACL) and patellar tendon (PT) in a 28-year-old professional handball player that was successfully treated by single-stage reconstructive surgery. The combined rupture of the ACL and PT is a rare injury pattern, and there are only a few cases reported in the literature. Presently, little evidence exists to guide management decisions for these patients. In comparison to isolated injuries, the combined rupture of the PT and ACL presents many management dilemmas. Case Report: A professional handball player from the Valencia Handball Club in the Spanish ASOBAL league had a rupture of the PT, ACL, medial co…

Muscle‐tendon morphology and function following long‐term exposure to repeated and strenuous mechanical loading

2019

We mapped structural and functional characteristics of muscle‐tendon units in a population exposed to very long‐term routine overloading. Twenty‐eight military academy cadets (age = 21.00 ± 1.1 years; height = 176.1 ± 4.8 cm; mass = 73.8 ± 7.0 kg) exposed for over 24 months to repetitive overloading were profiled via ultrasonography with a senior subgroup of them (n = 11; age = 21.4 ± 1.0 years; height = 176.5 ± 4.8 cm; mass = 71.4 ± 6.6 kg) also tested while walking and marching on a treadmill. A group of eleven ethnicity‐ and age‐matched civilians (age = 21.6 ± 0.7 years; height = 176.8 ± 4.3 cm; mass = 74.6 ± 5.6 kg) was also profiled and tested. Cadets and civilians exhibited similar mo…

Genetic variation in neuromuscular performance.

1973

Using a simple cumulative model of heredity plus environment, based on intrapair differences observed in monozygous (MZ) and dizygous (DZ) twins, the relative contribution of heredity to the interindividual variance in several neuromuscular parameters was determined with 15 pairs of male (8 MZ and 7 DZ) and 14 pairs of female (7 MZ and 7 DZ) twins ranging in age from 10 to 14 years. The data disclosed that in boys the variability in maximal mechanical (anaerobic) power was 99.2% genetically determined under the environmental conditions of the study. The corresponding heritability estimate values for the patellar reflex time and reaction time were 97.5% and 85.7%, respectively. In girls the …

Sex determination by discriminant analysis: an evaluation of the reliability of patella measurements

2004

Recently, a method which estimates the sex of unknown skeletal remains by discriminant function analysis of the patella has received much recognition. With seven simple measurements and a sexing accuracy of almost 84% this morphometric approach would be very suitable both in the forensic and anthropological context. In order to put this method to the test, 52 unfractured and non-pathological left and right patellae (26 males, 26 females) from a prehistoric skeletal sample were analyzed. In addition, 30 patellae were randomly selected which were not part of the original reference series. The first 15 (4 males, 11 females) had the same sample origin as the 30 target specimen but were of medio…

Mandibular-pelvic-patellar syndrome (mpp) is a novel pitx1-related disorder due to alteration of pitx1 transactivation ability

2020

International audience; PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a syndromic picture including clubfoot, tibial hemimelia, and preaxial polydactyly. We report two novel PITX1 missense variants, altering PITX1 transactivation ability, in three individuals from two unrelated families showing a distinct recognizable autosomal dominant syndrome, including first branchial arch, pelvic, patellar, and male genital abnormaliti…

Structural analysis of rat patellar tendon in response resistance and endurance training.

2009

Little is known about tendon adaptations induced by mechanical loading. Our goal was to evaluate the effects of two different exercise training protocols on adult rat patellar tendon. Ninety-six male Wistar rats were divided into a sedentary group (control), a resistance-trained group and an endurance-trained group. The examinations were performed after 15, 30 and 45 days of training and after 2 weeks of rest since training was stopped. The content of collagen fibers and the cell nuclei number were quantified on tendon cross sections. In order to assess the training effectiveness, we evaluated the heart/body weight ratio, which was higher in 45 day-trained rats than their controls (P<0.01),…

A rare case of Enchondromatosis of the knees and hands with involvement of Hoffa's fat pad and peri-articular soft-tissues

2013

We report a case of a 56-year old man with chronic pain in both knees for several years. This patient had already undergone surgery on his left knee in 2002 after an x-ray showed multiple lytic and well margined lesions in the distal femur and proximal tibia with ground-glass matrix, involving Hoffa's fat pad and the patellar ligament. Histology was consistent with an enchondroma. The most recent MRI examination showed enchondromatosis involving both knees with bilateral extension into Hoffa's fat pad and the patellar ligament. Subsequently, we performed an additional radiographic examination of the hands and feet, as well as an MRI of both hands to identify other possible enchondromas in t…

Oxygen isotopes from limpet shells: Implications for palaeothermometry and seasonal shellfish foraging studies in the Mediterranean

2017

Limpet shells are common components of many archaeological sites in the Mediterranean. To test whether δ18O values from archaeological Patella caerulea shells can serve as a reliable palaeothermometer for the Mediterranean and a reliable archive of season of collection information, we collected live P. caerulea from eight Mediterranean locations in Croatia, Israel, Libya, Malta, Tunisia, and Turkey. Shell growth patterns were studied in section, and samples for oxygen isotope analysis were milled from the shells and used to calculate sea surface temperature (SST). As with other species of limpet, SST reconstructed from P. caerulea δ18O values were lower than expected from observational reco…