The Liebenberg syndrome: in depth analysis of the original family.

The Liebenberg syndrome was first described in 1973 in a five- generation family. A sixth generation was added in 2001, and in 2009 a hitherto unknown branch of the same family with similar anomalies extended the family tree significantly. This article describes the clinical findings and illustrates the abnormalities with radiographs and three-dimensional computed tomography scans. We discuss the genetic abnormality that causes Liebenberg syndrome, the genomic rearrangement at the PITX1 locus on chromosome 5.The structural variations seem to result in an ectopic expression of paired-like homeodomain transcription factor 1 (PITX1) in the forelimb causing a partial arm-to-leg transformation in these patients.

The incidence of asymptomatic Kienböck's disease.

The aim of this study was to determine the incidence of asymptomatic Kienböck's disease in patients who attended the Dr George Mukhari Hospital (formerly Ga-Rankuwa Hospital), as well as the relevance of ulnar variance on the disease. This was a retrospective study. In a 12 month period we reviewed postero-anterior radiographs of 1287 patients seen at our radiology department, with complaints unrelated to the upper limb including the wrist and hand. We identified 23 cases (1.9%) of asymptomatic Lichtman stage II-IV Kienböck's disease in our African population. The majority (63%) were male with an average age of 49 years, and 37% were female with an average age of 46.5 years. All cases were unilateral and all were in the dominant hand. Thirteen cases (57%) had an ulnar neutral wrist and the remaining ten (43%) had an ulnar negative variance. The vast majority (83%) were unemployed. Analysis of the data shed no further light on the aetiology. The relevance of ulnar variance as an aetiological factor is questioned.

End-to-side nerve coaptation: a qualitative and quantitative assessment in the primate.

There are several reasons why end-to-side nerve coaptation has not been widely adopted clinically. Among these are the putative damage inflicted on the donor nerve and the variable quality of the regeneration in the recipient nerve. So far experiments on end-to-side nerve repair have been short term and mostly carried out on rats. This long-term study of end-to-side nerve repair of ulnar to median and median to ulnar nerve was performed using adult nonhuman primates. Eleven nerve repairs were studied at different time points. Eighteen, 22, 33 and 57 months after surgery a qualitative and quantitative analysis of the donor nerve and regenerating nerve revealed variable levels of percentage axonal regeneration compared with matched controls (1.4%-136%). Morphological evidence of donor nerve damage was identified distal to the coaptation site in four of the 11 cases, and in these cases the best axonal regeneration in the corresponding recipient nerves was observed. This donor nerve damage could neither be demonstrated in terms of a decrease in axon counts distal to the coaptation nor as donor target organ denervation. Recipient target organ regeneration like the axonal regeneration varied, with evidence of motor regeneration in eight out of 11 cases and sensory regeneration, as measured by percentage innervation density compared with matched controls, varied from 12.5% to 49%. Results from the present study demonstrate that the end-to-side coaptation technique in the nonhuman primate does not give predictable results. In general the motor recovery appeared better than the sensory and in those cases where donor nerve damage was observed there was better motor and sensory regeneration overall than in the remaining cases.

Arthrogryposis multiplex congenita: functional classification and the AMC disc-o-gram.

The arthrogryposis multiplex congenita (AMC) disc-o-gram is presented as a way to measure the effect of hand therapy, splinting and/or surgery on the AMC patient. It also allows comparative measurement of passive motion (in the baby), active motion (in the young child) and function (in the older child and adult). These measurements are related to a new classification system which, as movement and function improves, indicates the efficacy of management.

The evaluation of function of the flail upper limb classification system: its application to unilateral brachial plexus injuries.

The evaluation of function of the flail upper limb (EFFUL) classification system measures in numerical terms the improvement achieved through hand surgery and hand therapy in patients with peripheral nerve injuries. To research the effectiveness of the EFFUL system a study was conducted that included 103 adult traumatic brachial plexus palsies. The measurement of upper limb function has 2 distinct phases: function without adaptation and function with adaptation. Patients will naturally adapt in order to cope whether we encourage them or not. This jump in gain of function by adaptation is a bonus that cannot be measured for comparison with other patients because each patient is different. Differences include factors such as each individual's personal pattern of adaptation with or without assistive devices, intelligence, dominant hand, and, in particular, motivation. Measurement of preoperative and postoperative function (with its associated hand therapy) therefore may not include adaptation. The EFFUL system is a method developed to measure unadapted function; it measures residual function of the flail upper arm using practical, everyday tasks performed by the shoulder, elbow, forearm, wrist, and hand, ie, all upper limb regions. It is a ranking system with a hierarchy of increasingly higher demands placed on function until normal function has been achieved. The execution of the tasks focuses on 2-handed coordination and hand dominance. The score is divided into no function, minimal nondominant arm function, supportive arm (nondominant side) function, minimal dominant arm function, useful arm function as done by the dominant arm, and normal arm function. These descriptive scores are subdivided into scores ranging from 0 to 10. Thus, the EFFUL classification system is an objective method of measuring residual function before and after treatment. The clinical examination and functional evaluation ought to have equal significance in the final report on outcome. This approach to upper limb function is holistic but does not generalize in broad terms. An EFFUL-o-gram (patient profile) is used to record the progress and outcome of each individual patient.

Variations of the posterior interosseous nerve.

The posterior interosseous nerves of 58 cadaver forearms of black South Africans were dissected to study their order of branching. In 43 specimens (74%), the most common order of branching was: extensor carpi radialis brevis; supinator; extensor digitorum; extensor carpi ulnaris; extensor digiti minimi; abductor pollicis longus; extensor pollicis brevis; extensor pollicis longus and extensor indicis. In 15 specimens (26%) different variations of the nerve were observed, some of which are reported for the first time. The knowledge of these variations could be useful during operations in the vicinity of the nerve, and when repairing a nerve injury or forecasting the location of a compressive lesion.

End-to-side nerve suture--a technique to repair peripheral nerve injury.

End-to-side nerve suture (ETSNS) has until recently been extensively researched in the laboratory animal (rat and baboon). Lateral sprouting from an intact nerve into an attached nerve does occur, and functional recovery (sensory and motor) has been demonstrated. We have demonstrated conclusively that ETSNS in the human is a viable option in treating peripheral nerve injuries, including injuries to the brachial plexus. Among the many advantages of this new technique are: (i) simple and short operation; (ii) shorter recovery time--suture is done closer to the target organs; (iii) nerve grafts to bridge injured gaps are eliminated, reducing the morbidity of nerve surgery to a minimum; (iv) innervation of paralysed muscles, for which there was previously thought to be no hope of recovery, opens up many new treatment options; and (v) certain aspects of nerve function and regeneration, unknown until recently, open new horizons and understanding. ETSNS has given us new dimensions in the management of peripheral nerve injuries.

Triplication of the thumb.

A child with triplication of the thumb is presented. Each thumb was fully developed with neurovascular bundles, flexor and extensor tendons. Although all three thumbs were triphalangeal, they shared a common metacarpal and two shared a common proximal phalanx. Since this anomaly does not fit in the existing accepted Wassel (1969) classification, a new category is suggested.

The EFFUL (Evaluation of Function in the Flail Upper Limb) system. A ranking score system to measure improvement achieved by surgical reconstruction and rehabilitation.

The EFFUL (Evaluation of Function of the Flail Upper Limb) system measures in numerical terms the improvement, achieved through reconstructive surgery and hand therapy, in patients with brachial plexus injuries. The EFFUL system measures practical, everyday activities performed with the shoulder, elbow, forearm, wrist and hand. The ranking system is based upon a classification of function, with a hierarchy of increasing functional demands until normal function has been achieved. These activities focus on two-handed coordination and hand dominance. The score is plotted on a star histogram known as the patient's profile, and shows the preoperative score achieved in the first evaluation, and the postoperative score achieved in the second evaluation. The shaded area between the two plotted points clearly demonstrates any improvement in function obtained by surgery and rehabilitation. It also demonstrates the interrelationship between the various regions: improvement in function in one region often results in improvement in other regions.

Upper limb triplication with radial dimelia.

We report a very unusual case of upper limb triplication. The fused upper two limbs present as a duplicated mirror hand, joined along the ulnar side from the small finger up to the humerus. This exceptional abnormality further corroborates the theory that the development of the more distal segments of the limb is determined by the more proximal segments.

Side-effects of rinsing fluids on the rat femoral artery. A histological and electron microscopic study.

Rinsing rat femoral arteries with various fluids in experimental conditions similar to those in clinical practice was found to have deleterious effects on the intimal and medial layers of the vessels. No statistically significant difference was found between the effects of Ringer's lactate and normal saline. Heparinized saline produced significantly less damage to the medial layer and less platelet cell deposition. Lignocaine 2% was found to be extremely damaging to the whole vessel wall, and highly thrombogenic. Nevertheless, all the arteries in each group remained patent 4 days after rinsing.

Arthrogryposis multiplex congenita in a monozygotic twin. An intrauterine lesion?

Arthrogryposis multiplex congenita is a specific, well-defined congenital deformity which primarily affects muscles of limbs resulting in secondary joint deformities. The aetiology is still uncertain. One of monozygotic twin brothers with classical arthrogryposis multiplex congenita is presented, proving that this specific condition is not genetically transmitted.

Serum zinc, sodium, calcium, magnesium and potassium levels and standard diet in leprosy patients.

Serum zinc levels were estimated in different types of leprosy by means of the atomic absorption spectrophotometry method in 64 leprosy patients, comprising of tuberculoid tuberculoid (TT) (5), borderline tuberculoid (BT) (6), borderline borderline (BB) (10), borderline lepromatous (BL) (13), lepromatous lepromatous (LL) (14) and burnt-out leprosy (BO) (16). These findings were evaluated in comparison to 86 normal control subjects who were served the same standard diet. Serum zinc levels were significantly low in the total leprosy group. The findings of this study are of clinical importance as zinc deficiency can be one of the factors involved in suppression of cell-mediated immunity (CMI) in lepromatous leprosy. This again has a bearing on the management of wounds and wound healing. This study also reveals that altered levels of the serum elements (eg. calcium and sodium) have a direct association with the disease and not with food deprivation.

Fingertip injuries management with semi-occlusive dressing.

We have developed a simple, cheap and efficient method of management of fingertip injury using a semi-occlusive dressing ("Opsite"--Smith and Nephew). The fingertip is covered with the "Opsite" once a week only. The dressing provides a temporary "skin", making the finger painless. This semi-occlusive "skin" allows the healing environment to reach an optimal milieu (e.g. pH, oxygen, tension, immunoagents) actively promoting granulation tissue formation and epithelialization. The result of 200 fingertip injuries treated with this method proves the development of a near normal pulp shape and useful epithelium within an average of 20 days.

Early corrective surgery of the wrist and elbow in arthrogryposis multiplex congenita.

An early one-stage corrective surgical procedure for the elbow and wrist of patients suffering from arthrogryposis multiplex congenita is advocated. The procedure involves adequate proximal row carpectomy, tendon transfers to achieve a balanced wrist and a triceps to radius transfer for elbow flexion. Experience with 47 limbs showed that the best results were obtained in children operated on between 3 and 6 months of age.

An alternative method of treating comminuted intra-articular fractures of the distal radius.

Comminuted intra-articular fractures of the distal radius will inevitably end in poor results if inadequately treated. We recommend an external fixator by two proximal and one distal Steinmann pins incorporated into a short plaster of Paris cast. This distraction method is easy, does not need special instrumentation, and is very cost-effective. Our method differs from previous methods in its simplicity and predictably good results if the recommended technique is followed.

Free plantaris (or tendo Achillis) osseotendinous transfer to restore finger flexion.

A new method to restore flexion of fingers is described whereby the plantaris tendon (or part of the tendo Achillis), with its bony insertion, is transferred to the finger. Strong bony anchorage is achieved in the distal phalanx, while a sound interweaving suture technique proximally in the palm will ensure enough strength to allow immediate mobilisation.

Elbow flexorplasty: a comparison between latissimus dorsi transfer and Steindler flexorplasty.

The latissimus dorsi transfer and the Steindler flexorplasty were compared to restore elbow flexion in seven cases. All patients had sustained upper trunk brachial plexus injuries and were adults of productive age. Both operations were successful. The results showed that the latissimus dorsi transfer provides more powerful elbow flexion and a greater range of movement one year post-operatively. The criteria for selection of candidates for both operations are set out.