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View my account settings1. A brief historical outline of the gradual recognition of hereditary onycho-osteodysplasia is given.
2. A family, three members of which show the characteristic changes, is reported.
3. Forty-four families exhibiting the syndrome have been collected from the world literature; the whole series comprises over 400 affected persons, details being available for only 252 of them. The latter group has been analysed in order to find the relative incidence of the individual anomalies comprising the syndrome and of the different combinations in which they occur. It is suggested that the pelvic anomalies occur more frequently than has previously been believed.
4. An account is given of various other abnormalities recorded as occurring in association with the main tetrad of lesions. With few exceptions they are regarded as coincidental.
5. A brief account is given of the genetic factors involved.
1. A genetic and orthopaedic analysis of a family of seventy members exhibiting the nail-patella syndrome is described.
2. The disorder is found to be determined by a simple dominant autosomal gene with complete penetrance, but displaying variable expressivity and great pleomorphism.
3. In the family reported all ten of the affected individuals whose blood was typed belonged to group O, demonstrating the adjacent chromosomal position of the nail-patella gene and the ABO blood group locus.
4. The pathogenesis is one of hypoplasia of the nail beds, but hyperplasia in mesodermal tissue as shown by the formation of iliac horns.
5. The skeletal changes are ascribed to a functional disturbance in the development of the traction epiphyses rather than to a primary teratogenic effect.
1. Breech malposition and hormonal joint laxity produce atraumatic posterior dislocations in the hip joints of young rabbits.
2. Experimental studies were shown to cause the development of a limbus and other softtissue changes similar to those found in human congenital dislocations.
3. The development of femoral retroversion and anteversion in the presence of joint laxity is described.
4. The co-existence of breech malposition and hormonal joint laxity in utero, and their importance as prime factors in the etiology of congenital dislocation of the hip, are discussed.
1. Cancellous bone grafting of the head of the femur in Perthes' disease accelerates reossification and thus shortens the period of treatment.
2. There is no evidence from this series of cases that the final shape of the head is affected for better or for worse by the operation of cancellous chip grafting, by the rate of regeneration of the head after operation or by the stage in the disease process at which the operation is done.
3. No relationship has been found between the shape of the head at the time of operation and its final shape.
4. A larger series of cases is needed to determine the value of bone grafting in Perthes' disease of the hip.
1. Hereditary multiple exostosis has been studied in fifty-six patients and their relatives. In most cases previous records were available and the progress of the disease could be traced over many years.
2. The characteristic lesions are described and the complications encountered in the present series of cases are noted. The disease is inherited in approximately two-thirds of the cases and invariably produces detectable lesions in the heterozygote.
3. The cartilage-capped exostoses are confined to the endochondral skeleton where their incidence is closely related to the growth potential of the sites involved.
4. An attempt has been made to explain the curious distribution of the exostoses, and the likely theories of the pathogenesis of the disease are discussed.
1. A series of 100 intracapsular fractures of the femoral neck treated with the Charnley compression screw is reported.
2. There were six deaths, and in patients reviewed long enough (seventy-five) there were eleven undisplaced fractures, with successful union in 8l·8 per cent, and sixty-four displaced fractures, with a union rate of 59·6 per cent.
3. If we exclude six failures of operative technique, there remain fifty-eight patients in whom the fracture was judged radiologically to have united in 65·5 per cent.
4. The Charnley compression screw is an effective method of internal fixation in such fractures, and non-union with this method is usually due to causes other than mechanical failure.
1. Congenital pseudarthrosis of the clavicle is described.
2. The distinction from cranio-cleido-dysostosis and from birth fracture is stressed.
3. Details are given of two patients reported in the literature and a further nine patients are described.
4. The embryology, natural history and treatment of the condition are discussed.
1. Twenty-eight cases of the infantile and three cases of the adolescent type of tibia vara occurring in West Indian Negroes are reported.
2. The condition is characterised by failure of growth of the postero-medial part of the upper tibial epiphysis.
3. The deformity produced is acute varus at the upper tibia with medial torsion and eventually flexion of the diaphysis on the epiphysis.
4. These deformities are considered to be due to a vicious circle set up by considerable alteration of the lines of force on the medial portion of the upper tibial epiphysial line.
1. A series of patients with respiratory paralysis after anterior poliomyelitis is reported.
2. The examination routine is described and its value discussed.
3. Details are given of methods of respiratory rehabilitation and of the various pitfalls encountered, with suggestions for their avoidance.
4. The rates of recovery of vital capacity (and percentage of the expected vital capacity) in adults and children are analysed and compared with the rates given by Sharrard for nonrespiratory individual muscles in treated patients. It is shown that during the first year treated patients tend to recover approximately 3 to 4 per cent of their expected vital capacity per month rather than to regain any definite proportion of their current vital capacity.
1. Three cases of injury to the femoro-popliteal artery complicating fracture of the femoral shaft are described.
2. In all three cases restoration of peripheral circulation by arterial repair carried out within ten hours of injury succeeded in saving the limb from permanent damage.
3. The importance of adequate resuscitation, early diagnosis and early adequate surgical intervention is stressed.
4. The mechanism of injury and the clinical features of help in early diagnosis are discussed.
5. The place of internal fixation of the femoral fragments is discussed and its advantages and disadvantages are compared with those of treatment by skeletal or skin traction.
1. A small mobile oxygen chamber is described which overcomes some of the disadvantages of using high pressure oxygen therapy in cases of general or local anoxia.
2. A case of limb ischaemia following an open fracture of the tibia and fibula is described in which such a method of treatment was used.
This chamber is designed for use with conscious or unconscious patients requiring treatment with oxygen under high pressure. It can be pressurised to a maximum of 45 pounds per square inch above ambient (60 pounds per square inch absolute).
The unit consists of two parts, the pressure chamber and the control console, connected together by flexible hose. The chamber can be operated up to a distance of 100 feet from the control console and both parts are mobile.
The chamber consists of two concentrically mounted transparent cylinders, closed at the ends by domed metal caps. One end cap is detachable and can be removed, complete with the bed. The bed will accommodate a patient 6 feet 6 inches tall. The fully transparent chamber allows a complete view of the patient during treatment.
A communication system is provided between the patient and operators. A loud speaker and microphone are built into the door of the chamber and two external pick-up points are situated on the console and the fixed end cap of the chamber. Two-way or three-way conversation is possible and the patient can be temporarily isolated from the system if required.
Oxygen and electrical services must be coupled to the console. The chamber will operate directly from oxygen cylinders charged to a maximum of 1,800 pounds per square inch or from any piped supply with a minimum pressure of 75 pounds per square inch absolute.
A self-contained 12-volt direct current battery supplies the necessary electrical power. A charging unit is incorporated in the control console and this is normally connected to an alternating current supply to keep the battery fully charged. If initially the battery is fully charged the unit can be operated in a continuous pressurisation-depressurisation cycle for at least twenty-four hours without further charging.
Pressurisation and depressurisation are achieved by means of a motorised valve on the outlet of the pressure chamber. During pressurisation a variable speed motor applies a gradually increasing load to a helical spring. This in turn loads the outlet valve. By this means smooth pressure changes are obtained and the motor speed can be used to control the rate of pressure change.
Operating the pressure chamber is simple. After the patient has been placed in the chamber and the door sealed by screw-down knobs, pressurisation is started by turning a selector switch on the control console. The required working pressure can be preset or the pressure can be held at any point between ambient and the top working pressure of 45 pounds per square inch above ambient. Pressurisation stops automatically when the preset level is reached or at 45 pounds per square inch. The rate of pressurisation is selected on the console and can be varied up to a maximum of approximately 8 pounds per square inch per minute. In the same manner, depressurisation can be controlled at any rate up to 8 pounds per square inch per minute down to ambient pressure, or held at any intermediate pressure according to the wishes of the operator.
Coloured lights on the control panel indicate whether the chamber is ready for use, in the pressurisation or depressurisation state, holding a steady pressure or holding at the chosen maximum pressure.
This pressure chamber is run as an open circuit. A continuous ventilating flow of oxygen passes through the chamber to wash out carbon dioxide and water vapour.
In the event of an emergency affecting the patient, fast depressurisation controls are provided on both the chamber and the console. An electrically operated dumping valve can be triggered from the control console or the same valve operated manually from the end of the chamber. A pressure drop of one pound per square inch per second is obtained when this valve is used, and it is possible to reduce from maximum pressure and remove the patient from the chamber in approximately one minute. If a total power failure should occur, a manually operated, slow depressurisation valve can be opened on the control console.
A number of sealed electrical plugs are provided in the door of the chamber. With suitable apparatus these allow electro-physiological monitoring of the patient throughout the course of the treatment.
1. The problem of gap defects in the forearm bones and its solution by radio-ulnar fusion is discussed.
2. Seven patients with radio-ulnar fusions are presented. In four patients the operation was done for defects in the ulna, in two for defects in the radius, and in one for non-union of the radius and ulna after fracture.
3. The good cosmetic and functional result after radio-ulnar fusion is emphasised.
1. The clinical aspects of fifty-six patients with rupture of the tendo calcaneus are discussed, and the mechanism of injury is described.
2. Operative repair of the rupture is considered with a study of the results in twenty-eight patients.
1. A case of metaphysial dysplasia observed for eleven years is reported.
2. Only one case with similar features has previously been reported.
3. The literature on the subject is reviewed.
1. Two patients are reported with progressive fibrosis of the vastus intermedius muscle causing limitation of flexion of the knee. The first patient, a girl of ten years who was one of binovular twins, noticed difficulty in walking at the age of five, the disability increasing with age. The other girl, aged three, was one of uniovular twins and displayed the abnormality as soon as she started walking.
2. The nature of the condition remains obscure.
3. Surgery is effective, and simple division of the affected muscle segment is recommended. A good range of passive flexion is obtained at once; the active range can be obtained thereafter by physiotherapy. Because this requires the patient's cooperation it is suggested that the best age for surgery is about five or six years.
1. This case, in a girl, is the fourth case of ainhum to be reported from India.
2. The disease began in the big toe and later involved all the toes of the left foot.
A case of "clicking elbow" is described in which at operation the clicking appeared to be due to a"bucket handle" type of lesion of the annular ligament. Excision of the separated part of the ligament abolished the clicking.
A case of intramedullary neurilemmoma of the terminal phalanx of the right index finger is reported, and the cases previously reported are briefly reviewed.
1. Experiments to examine the antigenicity of homologous bone tissues in rats are reported. The tissues studied included fresh marrow-free cortical bone blocks and chips, fresh, boiled, frozen and freeze-dried marrow-containing iliac bone, fresh iliac bone devoid of marrow, and fresh red marrow.
2. The various tissues were transplanted from hooded to Wistar rats. Three weeks later a skin graft from each donor was transplanted to its respective host to detect the presence of transplantation immunity, which was indicated by the early rejection of the skin graft.
3. Homografts of fresh cortical bone evoked transplantation immunity indicating that it contained transplantation antigens which were also in the skin.
4. Homografts of fresh marrow-containing iliac bone also evoked transplantation immunity, which was shown to be caused by the red marrow.
5. Fresh iliac homografts devoid of marrow did not elicit transplantation immunity. This suggests that iliac bone tissue may not contain transplantation antigens or that the small amount of iliac bone inserted was insufficient.
6. Microscopy of the grafts, removed after three weeks, showed that the inflammatory infiltrations around the bone homografts and autografts were not very different, but that the amount of new bone formed was different. The autografts produced a lot of new bone, the homografts only a little.
7. It is suggested that the immune response evoked in the host by the foreign graft impairs the formation of new bone by fresh homografts of cortical blocks, cortical chips and marrow-containing iliac bone.
8. The impairment of new bone formation by homografts of marrow-free iliac bone is discussed. Such bone grafts fail to evoke detectable transplantation immunity. Why these grafts do not form more new homologous bone than the other homografts studied, is not clear.
9. Homografts of boiled and frozen iliac bone do not evoke any detectable change in the sensitivity of the host to donor tissue.
10. Homografts of freeze-dried marrow-containing iliac bone elicit a slight but significant prolongation of the survival of skin homografts. The implication, in terms of modern immunological theory, is that in such grafts certain tissue antigens still persist.
We have attempted to summarise in a short space investigations that have occupied several years, and we realise that whatever the merits of such an effort the results can only be modest. Many important aspects of the osteogenetic process still remain a mystery and thus are subjected to theory and controversy. Such is the case with this constant attendant at osteogenesis which is alkaline phosphatase. But of one thing we are certain, namely that bone is an organised "soft" tissue of which only part has been made rigid by the deposit of calcium salts. The organiser is the osteogenetic vessel from which springs the syncytial frame of cells and their connections on which the bone architecture is established. Endothelial cell, intermediate cell, osteoblast, osteocyte, osteoclast; these constitute the normal sequence of cellular phylogeny in the constant elaboration and removal of the bone substance. The initial cells on which the whole process rests are those of the capillary-sinusoid vessel which is responsible for providing the transudates on which the life and health of the whole syncytium depends.
If our findings were confirmed, a better understanding of the nature and characteristics of primitive malignant bone tumours would be possible. Each type of tumour from endothelioma to malignant osteoclastoma, including reticulum-cell sarcoma and osteogenic sarcoma, would be initiated by a different cell of the syncytium, but in its monstrous deviation from the normal would still preserve most of the characteristics of its healthy ancestor. Thus the endothelioma causes bone expansion, bone reaction and even bone necrosis, but not proper bone formation, whereas the osteogenic sarcoma or osteoblastoma forms bone; and with the same fidelity to their origin osteoclasts are seen in the malignant osteolytic tumour.
Over thirty years ago the late Sir Arthur Keith (1927) expressed his suspicion that the cells which assume a bone-forming role are derived from the endothelium of the capillary system. We hope we have contributed to show that his suspicion was right.