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Biomedical subjects

S E Hovius

Publications and source records attributed to S E Hovius.

At least 19 recordsLinked to original sources
PubMed2001

Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone.

Hereditary isolated brachydactyly type C (OMIM 113100) mostly follows an autosomal dominant pattern of inheritance with a marked variability in expression. This phenotype has been mapped to two different loci on chromosomes 12q24 and 20q11.2. The latter locus contains the cartilage-derived morphogenetic protein (CDMP)1 gene, in which a null mutation has been found in patients with malformations restricted to the upper limbs. A more complex brachydactyly type C phenotype has been mapped to chromosome 12q24. Differences in complexity of these phenotypes have been attributed to locus heterogeneity. Clinical subclassification based on the degree of complexity of the phenotype has therefore been suggested. We present patients with a complex brachydactyly type C phenotype in whom there is considerable intra- and interfamilial variability in expression. We show that clinical subclassification based on the complexity of the brachydactyly type C phenotype related to the genetic defect is not feasible. We present evidence that differences in complexity are not only due to locus heterogeneity, but that genetic modifiers and/or environmental factors must also play a role.

Adolescent↗
PubMed2001

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis.

Abnormalities, Multiple↗
PubMed2001

Tendon interposition arthroplasty versus arthrodesis for the treatment of trapeziometacarpal arthritis: a retrospective comparative follow-up study.

Long-term subjective and objective outcomes of 24 tendon interposition arthroplasties in 17 patients and 32 trapeziometacarpal (TMC) arthrodeses in 26 patients were compared retrospectively in a standardized manner. Tendon interposition arthroplasty led to complications less often (27%) than TMC arthrodesis (39%). Patients in the tendon interposition arthroplasty group reported significantly less pain, less temperature intolerance, and better thumb mobility and were more satisfied with pain symptoms than patients in the arthrodesis group. Patients undergoing tendon interposition arthroplasty had better thumb opposition, interphalangeal joint mobility, and radial and palmar TMC joint range of motion. No statistically significant differences were found in tip pinch, key pinch, and grip strength between the 2 groups. Proximal first metacarpal collapse occurred in the tendon interposition patients without affecting subjective or objective outcome. Seven of 25 patients with TMC arthrodesis had pseudarthrosis. Tendon interposition arthroplasty seems to be preferable to TMC joint arthrodesis for the treatment of TMC arthritis.

Aged↗
PubMed2001

Treatment of phalangeal fractures in severely injured hands.

This retrospective study was performed to assess the incidence of complications of operative treatment of phalangeal fractures. Risk factors for the development of complications were also investigated. Records and radiographs of 350 patients with 666 operatively treated phalangeal fractures were studied. Minimum follow-up was 1 year. A total of 176 fractured fingers were amputated primarily or secondarily, leaving 490 fractures for follow-up. Ninety-three fractures were treated conservatively. Nonunion necessitating reoperation developed in 6% (31/490) of fractures, malunion in 9% (44/490) and infection in 2% (8/490). Infection, segmental bone loss and (neuro)vascular injury predisposed to nonunion and replantation predisposed to malunion. There was a statistical correlation between the use of external fixation and malunion. Nonunion, malunion, and infection rates were similar to other studies.

Adolescent↗
PubMed2001

Median, ulnar, and combined median-ulnar nerve injuries: functional outcome and return to productivity.

BACKGROUND: Forearm and wrist injuries are a common cause of morbidity and are often associated with suboptimal recovery of hand function. This study describes and compares outcome after median, ulnar, or combined median-ulnar nerve injuries. METHODS: Three hundred thirteen wrist and forearm nerve injuries operated on between 1980 and 1997 in a large university hospital were reviewed in relation to complications, return to work, and sensor and motor recovery. Of these 313 patients, 220 (age range, 5-73 years) met the inclusion criteria. RESULTS: Motor recovery, progress of sensory reinnervation, and number of severed structures were related to the type of injury (p < 0.05). Multiple linear regression analysis revealed a relation between the appearance of sensory reinnervation and motor recovery (beta = 0.02; 95% confidence interval, 0.01-0.04; p = 0.01). A probability of 24% of work loss, after a mean follow-up of 17.7 months, was found. Poor sensory and motor recovery were associated with work disability (odds ratio [OR], 2.9; p = 0.002; and OR, 2.9; p = 0.007, respectively). No relationship was found between type of injury and return to work (p = 0.47). Level of injury (OR, 2.6; p = 0.01), type of work (OR, 3.1; p = 0.002), number of complications (p < 0.001), and hand-therapy (OR, 0.24; p = 0.001) were found to influence return to work. CONCLUSION: It may be concluded that peripheral nerve injuries at the forearm level can result in substantial functional loss and have major social consequences. This study identified factors influencing return to work that can be used to optimize postoperative treatment strategy.

Adolescent↗
PubMed2000

Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.

Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations. When the infant was 3 months old, fibromas started to appear at the fingertips. The cases of three additional patients are described, with a similar combination of multiple digital fibromas, pigmented marks on the temporal region, and limb malformations. One of these patients has consanguineous parents. The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "microphthalmia with linear skin defects" (MLS). Since the skin signs are clearly different, however-more like those of Setleis syndrome ("forceps mark" temporal dysplasia)-the patients described here seem to have a new combination of congenital malformations. Deletion of distal Xp, known to occur in some MLS patients, was not detected using cosmids in fluorescence in situ hybridization. This pattern of digital fibroma with congenital malformations seems to represent a new syndrome.

Abnormalities, Multiple↗
PubMed2000

[Tendon transfers to restore hand function following peripheral nerve injury in the arm].

Three patients, a woman aged 33 years, a man aged 42 and a woman aged 66, had a loss of hand function. This was due to denervation of a peripheral nerve, in essence the radial, ulnar and median nerves respectively. In the first two cases this was caused by trauma and in the third by compression neuropathy. The problems were loss of wrist and finger extension (a dropping hand) in the first, loss of intrinsic muscle function and thumb adduction in the second and loss of opposition in the third patient. Tendon transfers were performed by diverting a tendon insertion of a still functional muscle to another tendon to correct the disturbed mechanical balance in the affected upper extremity. After initial immobilisation during several weeks intensive rehabilitation was started. All patients had improvement of range of motion and power in the affected wrist and fingers. In this way a better daily function and resumption of work were accomplished.

Adult↗
PubMed2000

Assessing adolescents and young girls for plastic surgical intervention: pre-surgical appearance ratings and appearance-related burdens as reported by adolescents and young adults, parents and surgeons.

Currently available research on psychological aspects of plastic surgery offers little basis for clinical decision making in the plastic surgeon's assessment of adolescents and young adults applying for surgery. Therefore, the research aims were to study: first, how these adolescents and young adults estimate their appearance as compared to their parents and plastic surgeons to determine the reality of their own appearance perception; second, what appearance-related burdens they experience to determine the urgency of their request for surgery; and third, the surgeons' considerations for the operation. Data were obtained from 184 plastic surgical patients aged 12-22 years (71.2% girls), 172 of their parents and 37 surgeons from 16 hospitals in The Netherlands, using appearance rating scales and to surgeons and parents, and reported substantial appearance-related suffering. There was a moderate to large overlap between the adolescent- and parent-reported burdens. In their assessment, surgeons took psychological and social impediments into consideration. In conclusion, plastic surgeons may rightfully assume that adolescents and young adults have a realistic view of their appearance and that they suffer from significant appearance-related burdens. Parents prove to be an important additional source of information.

Adolescent↗
PubMed2000

Classification of congenital anomalies of the upper limb.

Six hundred and ninety-four patients with 993 anomalies of the upper limbs were classified according to the classification of Swanson et al. (1983). The data from these patients were compared with previous studies, and similar discrepancies were found. One explanation for these discrepancies is a lack of uniformity in the classification of Swanson et al., which may be caused by out-dated knowledge of the pathogenesis of congenital limb anomalies. Therefore, it seems necessary to describe the anomalies instead of the diagnoses. A descriptive method is being validated in our outpatient department that records all anomalies of the upper limb.

Arm↗
PubMed2000

Strength of the intrinsic muscles of the hand measured with a hand-held dynamometer: reliability in patients with ulnar and median nerve paralysis.

The aim of this study was to assess the reliability of a technique to measure the strength of the intrinsic hand muscles. Intraclass Correlation Coefficients showed an excellent level of reliability for the comparison of muscle strength between groups of patients. However, for the results of individual patients, the calculated Standard Error of Measurements (10-16%) and the Smallest Detectable Differences for intraobserver (31-36%) and interobserver (37-52%) values indicate that only relatively large changes in strength can be confidently detected with this technique. The results of the present study were compared with those of four previous grip strength studies.

Adolescent↗
PubMed2000

Volkmann's ischemic contracture. Prevention and treatment.

It may be concluded that treatment of patients with Volkmann's ischemic contracture is complicated and depends on a number of different variables. Optimal treatment of an established contracture requires a through examination of the extent of damage of the ischemia, followed by conservative therapy or operation. The most important measures concerning Volkmann's ischemic contracture, however, involve measures to prevent the contracture. It is poignant that very simple measures, such as monitoring high-risk injuries and immediate vascular repair or decompression if symptoms of a compartment syndrome are present, can prevent this disabling condition. The following summaries hopefully provide guidelines for prevention and treatment of Volkmann's ischemic contracture.

Arm↗
PubMed1999

Changes in the compound action current amplitudes in relation to the conduction velocity and functional recovery in the reconstructed peripheral nerve.

The average axon diameter in the proximal segment of a transected and reconstructed peripheral nerve will decrease shortly after the transection and increase again when the regenerating axons make contact with their targets. The magnetically recorded nerve compound action current (NCAC) amplitude and the conduction velocity (CV) are directly related to the axon diameters. In this experiment, the peroneal nerve was unilaterally transected and reconstructed in 42 rabbits. After 3, 4.5, 6, 8, 12, 20, and 36 weeks of regeneration time, hind leg motor function recovery, NCAC amplitude, and CV(1st peak) were studied. Our results demonstrate a significant decrease in signal amplitude and CV in the first 8 weeks after reconstruction. These decreases are related (P < 0.05). After 8 weeks of regeneration time, motor function and the CV of the recorded signals start to recover, but the signal amplitudes do not. Based on the correlation of the CV and signal amplitude with axon diameter, they would both be expected to increase with recovering function. As an explanation for this lack of increase of signal amplitude, we suggest that, at the same time as some axons reach their target organs and start to mature, a number of the axons which have not reached a proper target organ will lose their signal-conducting capability. This will cause a decrease in compound signal amplitude, which cancels out the expected increase in NCAC amplitude, due to axonal maturation.

Animals↗
PubMed1999

Evaluation of restoration of extensor pollicis function by transfer of the extensor indicis.

The aim of this study was to assess long-term results of extensor indicis (EI) to extensor pollicis longus (EPL) transfers and to assess donor site morbidity. A specific EI-EPL evaluation method (SEEM) was used to measure EPL function after transfer. The outcomes in 17 patients are presented. Results were assessed by the Geldmacher score, the SEEM, mobility and strength of thumb and index finger, pinch and grip strength, and a questionnaire, comparing the operated and non-operated hands. Based on the SEEM, the results were excellent to good in 11 of 17 patients. There was no marked loss of independent extension of the index finger and only a 38% loss of extension strength.

Adult↗
PubMed1999

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.

Polydactyly is the most frequently observed congenital hand malformation with a prevalence between 5 and 19 per 10000 live births. It can occur as an isolated disorder, in association with other hand/foot malformations, or as a part of a syndrome, and is usually inherited as an autosomal dominant trait. According to its anatomical location, polydactyly can be generally subdivided into pre- and postaxial forms. Recently, a gene responsible for preaxial polydactyly types II and III, as well as complex polysyndactyly, has been localised to chromosome 7q36. In order to facilitate the search for the underlying genetic defect, we ascertained 12 additional families of different ethnic origin affected with preaxial polydactyly. Eleven of the kindreds investigated could be linked to chromosome 7q36, enabling us to refine the critical region for the preaxial polydactyly gene to a region of 1.9 cM. Our findings also indicate that radial and tibial dysplasia/aplasia can be associated with preaxial polydactyly on chromosome 7q36. Combining our results with other studies suggests that all non-syndromic preaxial polydactylies associated with triphalangism of the thumb are caused by a single genetic locus, but that there is genetic heterogeneity for preaxial polydactyly associated with duplications of biphalangeal thumbs. Comparison of the phenotypic and genetic findings of different forms of preaxial polydactyly is an important step in analysing and understanding the aetiology and pathogenesis of these limb malformations.

Animals↗
PubMed1998

A magnetic evaluation of peripheral nerve regeneration: I. The discrepancy between magnetic and histologic data from the proximal segment.

Histologic techniques can quantify the number of axons in a nerve, but give no information about electrical conductibility. The number of functional myelinated neuronal units in a nerve can be quantified based on a magnetic recording technique. When studying reconstructed peripheral nerves a significant difference between the results found with these two techniques can be observed. A comparison was made between the long-term changes in the number of histologically and magnetoneurophysiologically measured neuronal units proximal to a nerve reconstruction. This study was performed on 6 New Zealand White rabbits, 20 weeks after the peroneal nerve had been reconstructed. The contralateral nerves were used as a control. Histologic examination demonstrates a statistically significant decrease of approximately 5% in the number of myelinated fibers. The magnetoneurophysiological results demonstrate a decrease which is estimated to be caused by the loss of approximately 50% of the functional myelinated neuronal units in the nerve. Therefore we conclude that of the initially available myelinated neuronal units, 5% degenerate completely, 45% are vital but lose their signal conducting capability, and the remaining 50% are vital and continue to conduct signals. Apparently, only this latter group of 50% of the initially available functional neuronal units appears to remain available for functional recovery.

Animals↗
PubMed1998

A magnetic evaluation of peripheral nerve regeneration: II. The signal amplitude in the distal segment in relation to functional recovery.

Motor and sensory function in a healthy nerve is strongly related to the number of neuronal units connecting to the distal target organs. In the regenerating nerve the amplitudes of magnetically recorded nerve compound action currents (NCACs) seem to relate to the number of functional neuronal units with larger diameters regenerating across the lesion. The goal of this experiment was to compare the signal amplitudes recorded from the distal segment of a reconstructed nerve to functional recovery. To this end, the peroneal nerves of 30 rabbits were unilaterally transected and reconstructed. After 6, 8, 12, 20, and 36 weeks of regeneration time the functional recovery was studied based on the toe-spread test, and the nerve regeneration based on the magnetically recorded NCACs. The results demonstrate that the signal amplitudes recorded magnetically from the reconstructed nerves increase in the first 12 weeks from 0% to 21% of the amplitudes recorded from the control nerves and from 21% to 25% in the following 23 weeks. The functional recovery increases from absent to good between the 8th and the 20th week after the reconstruction. A statistically significant relation was demonstrated between the signal amplitude and the functional recovery (P < 0.001). It is concluded that the magnetic recording technique can be used to evaluate the quality of a peripheral nerve reconstruction and seems to be able to predict, shortly after the reconstruction, the eventual functional recovery.

Animals↗
PubMed1998

Psychomotor development in children with triphalangeal thumbs. A preliminary study.

In order to explore the influence of an isolated congenital hand malformation on psychomotor development, we performed an exploratory, observational study on 18 children with triphalangeal thumbs. The investigative procedure consisted of a hand function examination, a semi-structured interview with the mother about the development of the child, the so-called "Hand test", and the "Child Behaviour Check List". Our observations suggest specific developmental difficulties in fine motor skills and language development, but the children showed no signs of behavioural psychopathology.

Adolescent↗