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At least 883 records · Page 49Linked to original sources
PubMed1995

Quantifying phalangeal curvature: an empirical comparison of alternative methods.

It has been generally assumed and theoretically argued that the curvature of finger and toe bones seen in some nonhuman primates is associated with cheiridial use in an arboreal setting. Assessment of such curvature in fossil primates has been used to infer the positional behavior of these animals. Several methods of quantifying curvature of bones have been proposed. The measure most commonly applied to phalanges is that of included angle, but this has come under some criticism. We consider various other approaches for quantifying phalangeal curvature, demonstrating that some are equivalent to use of included angle, but that one--normalized curvature moment arm (NCMA)--represents a true alternative. A comparison of NCMA to included angle, both calculated on manual and pedal proximal phalanges of humans, apes, some monkeys, and the Hadar fossils, revealed that these two different measures of curvature are highly correlated and result in very similar distributional patterns.

Animals↗
PubMed1995

Study of aging of silicone rubber biomaterials with NMR.

Multinuclear nuclear magnetic resonance (NMR) spectroscopy (29Si, 13C, 1H) is used to characterize the aging process of silicone rubber-based biomaterials in a rat model. 1H NMR relaxation measurements (spin-lattice, T1, and spin-spin, T2, relaxation times) were performed to better understand the molecular dynamics of polysiloxane chains in implants. After 1 year of implantation in animals, changes in the 1H T2 relaxation times and the NMR spectra were observed in polydimethylsiloxane, Silastic sheets and chin implants, while these measurements remain unchanged in finger joints. Very small amounts of fat were detected in all types of silicone rubber implants at the end of the implantation period. This work shows that free silicone migrates from the implants to adjacent tissues and distant sites, such as spleen or liver, and is chemically modified.

Animals↗
PubMed2004

Phenotypic variation and FMRP levels in fragile X.

Data on the relationships between cognitive and physical phenotypes, and a deficit of fragile X mental retardation 1 (FMR1) gene-specific protein product, FMRP, are presented and discussed in context with earlier findings. The previously unpublished results obtained, using standard procedures of regression and correlations, showed highly significant associations in males between FMRP levels and the Wechsler summary and subtest scores and in females between these levels and the full-scale intelligence quotient (FSIQ), verbal and performance IQ, and some Wechsler subtest scores. The published results based on data from 144 extended families with fragile X, recruited from Australia and the United States within a collaborative NIH-supported project, were obtained using robust modification of maximum likelihood in pedigrees. The results indicated that processing speed, short-term memory, and the ability to control attention, especially in the context of regulating goal-directed behavior, may be primarily affected by the FMRP depletion. The effect of this depletion on physical phenotype was also demonstrated, especially on body and head height and extensibility of finger joints. It is recommended that further studies should rely on more accurate measures of FMRP levels, and use of larger samples, to overcome extensive variability in the data.

Cognition Disorders↗
PubMed1989

Tactile discrimination of thickness.

The ability of human subjects to discriminate plane metal plates of different thickness was measured using of forced-choice paradigm. The plates, made by electroplating a thin layer of copper onto flat brass shims, were gripped between the thumb and the index finger. Subjects were presented with either 2 standard plates (0.2 mm thick), or a standard plate and a test plate that was slightly thicker, and were required in state which alternative had occurred. When the edges of the plates could not be touched, a difference in thickness of about 0.075 mm could be discriminated. Surprisingly, when the edges were included in the grip, performance did not improve. All hypotheses of strategies used by the subjects required them to sense the angles of the finger joints with a precision of about 0.1 degrees.

Adult↗
PubMed1975

[The indication and technique of the arthrodesis by children and adolescents (author's transl)].

The indications and techniques of an arthrodesis procedure, in children and adolescents, differ greatly with that of adults. And this, on account of, the growth of the epiphysis and its circulation during that period, and also, due to the thick cartilage coating the joint's surface. And therefore, only for the rare exceptions, where there are strict indications that the procedure is weeded, should it be performed, and preferably, when possible in late adolescence. It is advised to perform the arthrodesis even earlier, when it will prevent an increase in the static's impairement especially that of the feet. In general, for the seldom splintplastics one should consider autologous material, as primary choice. To conclude, special arthrodesis will be mentioned later.

Adolescent↗
PubMed1975

[Surgical treatment of malformations of the hand (author's transl)].

The frequency of malformations of the hand is estimated at 0.5 percent of live births. The course of early developmental processes makes early correction advisable. Knowledge of the special anatomy and mastery of the microsurgical operation techniques makes this possible. The main indications and methods that hve been tested are discussed.

Child, Preschool↗
PubMed1990

Early rheumatoid arthritis--onset, course, and outcome over 2 years.

Eighty-nine patients, 33 men and 56 women, with early definite rheumatoid arthritis were followed for 2 years. Two-thirds were seropositive. About 1/3 were eventually treated with second line drugs. The disease mostly had an insidious onset initially involving the finger joints. Early remission occurred in 16%. Patient relevant measures such as pain, patient's overall assessment of disease activity and anxiety decreased significantly. Disability evaluated by the HAQ disability index remained at a low level. The joint damage score (JDS) in hands and feet increased steadily and only 18% were nonerosive after 2 years. One-third developed hand deformities which was associated with higher JDS. A joint function index (SOFI) correlated significantly with JDS. Twenty-eight percent had a slower rate of joint damage progression the second year. There was no significant correlation between JDS and disease duration. Six patients developed rapidly progressive damage in larger joints, five in the hip joints and one in the shoulder joint, all requiring joint replacement. The ability to predict outcomes with clinical and laboratory variable obtained at entry was of limited clinical usefulness. By applying discriminant analyses 67%-80% of the cases who fared worst regarding clinical, functional, and radiological features could be correctly classified.

Adult↗
PubMed2002

Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome.

We present a 9.1-year-old girl of Calabrian (Italy) ancestry, with clinical features (cranio-facial dysmorphism, short stature with delayed bone age and speech delay) suggesting the diagnosis of Floating-Harbor syndrome (FHS). Physical examination showed: height 113.9 cm (-2.9 SD), with a parent's target of 156.2 cm (+1.0 SD), weight 20.7 kg, BMI 16.0 (-0.04 SD), and many phenotypic abnormalities: long eyelashes, large bulbous nose with broad nasal bridge, short philtrum, moderately broad mouth, tooth folding and malocclusion, posteriorly rotated ears, low posterior hair line, short neck, clinodactyly of the 5th finger and hyperextensible finger joints. Diffused hyperpigmentation and hypertrichosis with sporadic pubic terminal hairs, but neither clitoromegaly nor other signs of hyperandrogenism and/or precocious puberty, were observed (T1, P1). Carpal bone evaluation showed a delayed bone age (TW2: 5-5/10, - 3.6 yr) and the statural age/bone age ratio was 1.1. Other dysmorphic syndromes were excluded on the basis of clinical evidence, also evaluated by a computer-assisted search (P.O.S.S.U.M. version 3.5, 1992). Analysis of chromosome 22 by the FISH method, using specific probes Cos29 and Tuple1, excluded microdeletions in the region 22q11.2, typical of Velo-cardio-facial syndrome. In this case, we report the impairment of serum GH responsiveness (GH baseline values: 0.2-1.9 ng/ml) to the administration of oral 150 microg clonidine [peak 4.7 ng/ml, normal values (nv)>10 ng/ml] and oral 4 mg dexamethasone (8.1 ng/ml, nv>10 ng/ml). Moreover, the evaluation of spontaneous 24-h GH secretion (Carmeda AB, Stockholm, Sweden) showed low mean GH levels (1.75 ng/ml, nv>3.0 ng/ml), with a maximum sleep-related peak of 2.8 ng/ml. Serum IGF-1 values were in the low-normal range (80-176 ng/ml, nv 133-626 ng/ml). While in FHS the cranio-facial features minimize with advancement of age, the impairment of growth velocity is permanent and results in severe dwarfism. In our case, treatment with recombinant GH (0.10 U/kg/day), administered by a needle-free device, induced a dramatic increase of growth velocity, increasing the height from -2.8 to -1.9 SD after 18 months, thus indirectly confirming a role of GH deficiency in the pathogenesis of FHS dwarfism.

Abnormalities, Multiple↗
PubMed1995

[Vörner keratosis palmoplantaris diffusa. Clinical, formal genetic and molecular biology studies of 22 families].

In 1901, Vörner described a diffuse keratoderma of palms and soles with autosomal dominant inheritance. Histopathologically, this disease has the typical features of epidermolytic hyperkeratosis. Clinical examination does not allow differentiation between keratoderma of the Vörner type and the keratoderma described by Thost in 1880 and Unna in 1883. Reexamination of the family originally seen by Thost revealed histopathological signs of epidermolytic hyperkeratosis, confirming that keratoderma of the Vörner type is present in this family. The clinical features and variability of this palmoplantar keratoderma were demonstrated on the basis of an examination of 22 families (46 patients). In addition to diffuse hyperkeratosis of palms and soles with a sharp demarcation and erythematous margin, some less well-known features, such as knuckle pad-like keratoses on the finger joints and clubbing of the nails were observed. A genetic analysis of the pedigrees suggests that new mutations causing this disorder rarely occur. Point mutations in the keratin 9 gene, which has been mapped to chromosome 17q21, can be a cause of epidermolytic keratoderma of palms and soles. Five different keratin 9 gene mutations were identified. All these mutations are localized in the highly conserved coil 1A region of the rod domain, which is thought to be relevant for dimer formation in intermediate filaments.

Chromosome Aberrations↗
PubMed1999

Effects of geometric joint constraints on the selection of final arm posture during reaching: a simulation study.

Significant debate exists regarding the neural strategies underlying the positioning and orienting of the hand during voluntary reaching movements of the human upper extremity. Some authors have suggested that positioning and orienting are controlled independently, while others have argued that a strong interdependence exists. In an effort to address this uncertainty, our study employed computer simulations to examine the impact of physiological limitations of joint rotation on the proposed independence of hand position and orientation. Specifically, we analyzed the effects of geometric constraints on final arm postures using a 7 degree-of-freedom model of the human arm. For 20 different hand configurations within the attainable workspace, we computed sets of achievable joint angles by applying inverse kinematics. From each set, we then calculated the locus of possible elbow positions for the particular final hand posture. When the joints were allowed 360 degrees of rotation, the loci formed complete circles; however, when joint ranges were limited to physiological values, the extent of the loci decreased to an average arc angle of 54.6 degrees (+/-27.9 degrees). Imposition of joint limits also led to practically linear relationships between joint angles within a solution set. These theoretical results suggest a requirement for coordinated interaction between control of the joints associated with hand position and those involved with hand orientation in order to ensure attainable joint trajectories. Furthermore, it is conceivable that some of the correlations observed between joint angles in the course of natural reaching movements result from geometric constraints.

Arm↗
PubMed1999

Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature.

We report an 18-year-old boy with occipital horn syndrome who developed aneurysms of the splenic and hepatic arteries. Occipital horn syndrome, also called X-linked cutis laxa or Ehlers-Danlos syndrome (EDS) type IX, is characterised by a skeletal dysplasia which includes occipital horns, broad clavicles, deformed radii, ulnae and humeri, narrow rib cage, undercalcified long bones and coxa valga. Distinctive features common to all patients are unusual facial appearance, hypermobility of finger joints, limitation of extension of elbows, chronic diarrhoea and genitourinary abnormalities. In this case report we describe the difficulties encountered in the diagnostic management of patients with EDS-related vascular lesions.

Adolescent↗
PubMed1996

Synovial cysts of the hips in seronegative arthritis.

A 25-year-old woman with recurrent pronounced enlargement of the iliopsoas bursae is described; her hips were evaluated by ultrasonography and MRI. They appeared normal and communications to the iliopsoas bursae were demonstrated. During the preceding 8 years she had intermittent seronegative non-erosive arthritis of the knee and finger joints and her disease was classified as juvenile chronic arthritis.

Adult↗
PubMed2005

Kirner's deformity: progressiveness and classification.

In a 30-year-old man, bilateral Kirner's deformity has been diagnosed. In the fully extended finger, the long axes of the middle and terminal phalanges formed an angle of 10 degrees in the volar and 5 degrees in the radial direction. Owing to the altered morphology of the distal phalanx, its palmar surface was at an angle of 25 degrees to the long axis of the middle phalanx. The deformity has existed since birth and has not changed except in size. His mother had the same bilateral deformity. Other closer relatives showed a unilateral appearance of Kirner's deformity: his maternal grandmother and an uncle had in their right little finger and an aunt had in her left little finger. Although some authors reported that Kirner's deformity was progressive, the description only referred to a change in the deformity. Kirner's deformity may be classified according to its period of onset, i.e., a more frequently occurring early type and a late type of onset (with lower incidence) exists. Moreover, it can be further classified by typical morphologic changes as well as the family history of the affected person.

Adult↗