Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family.

We report on a consanguineous Brazilian couple whose 2 children had tibial aplasia-ectrodactyly. Femoral bifurcation was present in one of the affected children. The relationship of tibial aplasia-ectrodactyly to the Gollop-Wolfgang complex is discussed. Clinical and genetic aspects of the conditions involving tibial aplasia and femoral bifurcation are discussed.

Genetics of acheiropodia ("The handless and footless families of Brazil"): X. Roentgenologic study.

The main radiologic findings from four unrelated cases and two sibs with acheiropodia are presented and discussed. On the basis of such analysis, a clinical and radiologic description of the anomaly is given. The presence of one or more fingers and of a small bone (Bohomoletz bone) in the upper stumps is discussed. These unusual findings in bone structure were assumed to be due to a variability in the expression of the acheiropodia gene. Radiologic studies of some of the acheiropods' normal parents failed to reveal even mild manifestations of the gene in the heterozygous state. No recognizable pattern was found in the dermal ridges on the end of the acheiropods' upper or lower stumps.

Osteotomy of the radius and ulna for the Madelung deformity.

The Madelung deformity can result in pain and decreased function of the wrist and hand. None of the surgical techniques available has been shown consistently to improve grip strength, range of movement or relieve pain. In this prospective study we have treated 18 patients with the Madelung deformity (25 wrists) by wedge subtraction osteotomy of the radius and shortening of the ulna. Our results show statistically significant improvement in grip strength and range of movement of the wrist and forearm. Pain improved in 80% of the patients and 88% were satisfied with the appearance. One patient had a wound infection and another developed reflex sympathetic dystrophy. Two had some recurrence due to continued growth of the ulna and it is recommended that the procedure be delayed until skeletal maturity, or else combined with epiphysiodesis of the ulna.

Racial and geographic differences of Wiberg's angle from 400 ultrasonographic normal hips in Italian and Brazilian infants younger than 3 months old.

The Wiberg center edge angle (CEA) of 400 hip sonographies among 200 infants, 100 Italians and 100 Brazilians, aged from 15 days to 90 days, whose hip joints were considered normal, from the ultrasonographic point of view (1a and 1b) according to Graf's classification were measured. For the CEA measurements in the studied material, the authors used their own methodology developed for this purpose, which is based on basic geometric concepts and applied by one graphic computer program. In the studied material, the statistical analysis of the results obtained in the measurement of the CEA showed a better conformation of the acetabular roof complex in the Brazilian infants compared with the Italian.

A new methodology for the measurement of the Wiberg angle in infants under 3 months.

This article describes the measurement of the Wiberg center edge angle in infants under 3 months using sonographic images of their hips. In the literature review, there was no reference of the application of this angle in this particular age group. Thus, a methodology has been developed based upon the fact that, at this age, the acetabular roof constitutes a large portion of hyaline cartilage. In this way, it was concluded that it was not possible to apply the original Wiberg method since the center of the femoral head can be only estimated and not accurately determined in plain radiography. For this present study, 400 hips of 200 infants were analyzed. All these hips were classified as type 1a or 1b, according to Graf. The sonographic images were transferred to a Pentium computer through a video Spigot interface. The images were analyzed by software specially developed for this purpose. Since ultrasonography allows the exact recognition of the anatomical elements of the hip joint in young children, software provided the acetabular cartilaginous roof angle that corresponds to the center edge angle in adults. The authors believe that this method will be helpful in the early detection of morphological alterations in the hip joint.

[Complications of allogeneic microsurgical transplantation of a limb (composite tissue), in rats]. / Complicações em transplante alógeno microcirúrgico de membro (tecido composto), em ratos.

PURPOSE: To analyze the composite tissue vascularized allotransplantation post operative complications and to identify factors associated with agents toxicity. METHOD: The study was done across a strong histocompatibility barrier using 39 Brown-Norway rats as donors and 78 Fischer 344 as hindlimb allotransplantation recipients treated with cyclosporine and RS-61443. RESULTS: 1 (1/78: 1.28%) was eliminated owing to thrombosis; 2 (2/78: 2.56%) owing to enteritis; 1 (1/78: 1.28%) owing to autophagia and 8 (8/78: 10.42%) died owing to undiscovered cause. CONCLUSION: Among 78 (78/78: 100%) rat limb vascularized allotransplantations, 12 (15.5%) rats died or were eliminated because of acute postoperative complications that were not related to rejection, to immunosuppressive toxicity or to opportunistic infection.

[Control of the rejection process treated with cyclosporine and RS-61443, in allogeneic microsurgery transplantation of a limb, in rats]. / Controle do processo de rejeição em transplante alógeno microcirúrgico de membro tratado com ciclosporina e RS-61443, em ratos.

Composite tissue allotransplantations would contribute to the reconstructions of the congenital, traumatic and tumors deformities. PURPOSE--The aim of this study is to prevent or inhibit the rejection in limb vascularized allotransplantation; decrease the toxicity of available immunosuppressive agents; determine whether combination subtherapeutic doses of CsA +RS-61443 will have an additive immunosuppressive effect. METHODS--Five groups were studied, using Brown-Norway limb donors and Fischer 344 recipient rats: group A Untreated autograft controls; group B Untreated allograft controls; group C Allografts: CsA 1.5 mg/kg/d SQ; group D Allograft: RS-61443 15 mg/kg/d; group E Allograft: combination CsA + RS-61443. RESULTS--The results were the following concerning the rejection: Group A animals displayed no rejection clinically (0%). All the skin biopsies obtained were devoid of rejection (grade 0). Group B animal developed rejection at 10-13 days post-transplantation. Skin biopsies confirmed the epidermal necrosis (grade 4). Group C animals developed rejection in 55%. Group D animals developed rejection in 94%. In contrast, Group E animals had 96% rejection-free survival up to POD 172 thus far. CONCLUSION--Combination subtherapeutic doses of CsA + RS-61443 was effective in preventing acute rejection of limb allografts and had an additive immunosuppressive effect because of the agents immunosuppressive synergistic effect.

Study of the inclination of the joint line in supracondylar osteotomy of the femur for valgus deformity.

The inclination of the joint line after supracondylar osteotomy of the femur for valgus deformity was studied in 22 patients and 26 knees. The patients (4 males and 18 females) were 17 to 77 years old (mean, 49.5 years). The obliquity of the joint line was measured in positive degrees (medial inclination) and negative degrees (lateral inclination). Mean obliquity was +3.1 degrees in the preoperative study and -2.0 degrees in the post-operative study. Significant horizontality of the joint line was obtained when the two periods were compared (mean, 5.0 degrees).

Pathogenesis of uncus deformation and vertebral artery compression: histologic investigations of the uncus and dynamic angiography of the vertebral artery in the cadaveric cervical spine.

Twenty-one cervical spines were collected from fresh cadavers (12 male, nine female), their ages ranging from 10 to 90 years (mean 49.47). After removing muscle debris from the spines, they were mounted and tested on a device to passively reproduce the main movements of the spine. The degree of motion in flexion-extension and lateral bending significantly decreased from group A (ages 10-49 years) to group B (51-90 years) (p < 0.005) and was directly correlated with the amount of cervical spine degenerative alterations. The incidence of these alterations, classified according to Lysell (1969), was highest at C5-6. On the testing machine, dynamic angiography of the vertebral artery showed an impingement with extrinsic compression of the vessels in four of 28 successful injections. The histologic serial sections of the uncus showed a characteristic pattern of ossification-deformation: a newly formed cartilaginous tissue tipping the apex of the uncus, forming a double protruding contour of the apex, rapidly ossifying, and appearing to deform outward together with the disk degeneration and consequently decreasing in height.

The inheritance of factors associated with joint mobility.

From a sample of 1,500 individuals belonging to 442 migrant nuclear families from northeastern Brazil, information on the interphalangial mobility was obtained: (a) the grades of extension of both the right and left thumbs and (b) the angle (in degrees) formed by the distant and proximal phalanx of the thumb. The first principal component of these variables was estimated and called "extensibility." A negative association of extensibility and age, as well as with inbreeding, was detected. Complex segregation analysis was applied to extensibility and both a multigenic mechanism and an extra transmissible component were detected. Mendelian inheritance was rejected, while a model with multifactorial inheritance, together with a factor that is inherited with a transmission probability different from 1/2 (tau = 0.63), was not rejected. These findings were supported by path analysis, which showed an important biologic inheritance (h2 = 0.675) and the existence of a small but significant cultural component (c2 = 0.003). The observed "inbreeding" effect, therefore, could not be attributed to a genetic mechanism and probably is the effect of concomitant environmental variability.

Epiphyseal plate involvement in osteosarcoma.

Fourteen boys (56%) and 11 girls (44%) 4 to 17 years of age (mean, 12.2 years) who had osteosarcoma and open epiphyseal plates were studied. A possible correlation between transepiphyseal spread of osteosarcoma and radiologic and histopathologic findings was investigated. Epiphyseal plate invasion was detected radiologically in only 11 patients (44%), whereas histopathologic examination showed transepiphyseal extension in 21 patients (84%). The authors conclude that the epiphyseal plate is not a barrier against tumor growth and strongly recommend that limb salvage surgery preserving the epiphysis be planned carefully.

Autosomal dominant larsen syndrome: report of brazilian family

We report on a Brazilian family with six affected patients, in two generations, which presented flat face and feet anomalies ranging from mild metatarsus varus to severe clubfoot. Autosomal dominant pattern of inheritance can be demonstrated. Clinical and genetical aspects are discussed

Complicaçöes em transplante alógeno microcirúrgico de membro (tecido composto), em ratos / Complications in allogeneic microsurgical transplantation of a limb (composite tissue), in rats

OBJETIVO: Analisar as complicaçöes pós-operatórias dos transplantes microcirúrgicos alógenos de membro, bem como determinar fatores associados à toxicidade das drogas. MÉTODO. O estudo foi realizado entre combinaçöes de maior histocompatibilidade, utilizando 39 ratos Brown-Norway (doadores) e 78 ratos Fischer 344 (receptores), submetidos ao transplante microcirúrgico alógenode membro e ao tratamento imunossupressor com ciclosporina e RS-61443. RESULTADOS. Um (1/78: 1,28 por cento) foi sacrificado devido à trombose; dois (2/78:2,56 por cento) por enterite; um (1/78:1,28 por cento) devido à autofagia e oito (8/78:10,42 por cento) morreram por causa indeterminada. CONCLUSÄO. Dentre os 78 (78/78:100 por cento) ratos submetidos ao transplante alógeno microcirúrgico de membro, 12 (15,5 por cento) ratos morreram ou foram sacrificados devido às complicaçöes pós-operatórias agudas näo relacionadas à rejeiçäo, toxicidade dos agentes imunossupressores ou infecçäo oportunista

Controle do processo de rejeiçäo em transplante alógeno microcirúrgico de membro tratado com ciclosporina e RS-61443, em ratos / Control of the rejection process treated with cyclosporine and RS-61443, in allogeneic microsurgery transplantation of a limb, in rats

Os transportes alógenos de tecido composto contribuiram sobremaneira para reparaçäo das deformidades congênitas, traumáticas e tumorais. OBJETIVO. Prevenir ou inibir o processo de rejeiçäo em transplante microcirúrgico alógeno de membro; diminuir a toxicidade das drogas imunossupressoras; verificar um melhor efeito imunossupressor através da possibilidade do efeito sinérgico da associaçäo de doses subterapêuticas de ciclosporina e RS-61443. MÉTODOS. Cinco grupos foram estudados, usando Brown-Norway, doadores e Fischer 244, receptores: grupo A, controle autógeno sem tratamento; grupo B, alógeno, sem tratamento; grupo C, alógeno + ciclosporina 1,5mg/Kg/d sc; grupo D; alógeno + RS-61443 15mg/Kg/d; e grupo E, alógeno + CsA + RS. RESULTADOS. De acordo com o processo de rejeiçäo, os resultados foram o seguinte: grupo A, nenhum animal apresentou rejeiçäo (0 por cento). Todas as biópsias resultaram em grau 0; grupo B, todos desenvolveram rejeiçäo entre o 10º e o 13º dia pós-operatório. As biópsias cutâneas confirmaram a necrose epidérmicas (grau 4); grupo C, 55 por cento desenvolveram rejeiçäo; grupo D, 94 por cento apresentaram rejeiçäo e em contraste; no grupo E, 94 por cento dos animais sobreviveram livres do processo de rejeiçäo, por mais de 172 dias de transplante. CONCLUSäO. A associaçäo de duas drogas imunossupressoras (ciclosporina + rs-61443), em doses subterapêuticas, foi eficiente em prevenir o processo de rejeiçäo e apresentou um melhor efeito imunossupressor pelo efeito sinérgico da associaçäo destas drogas

The incidence of lethal graft-versus-host disease in rat limb allotransplantations

To study graft-versus-host disease (GVHD) in rat hindlimb allotransplantation, a model similar to intestinal transplantation was used. ACI and Lewis rats were crossed to produce F(1) generation rats (ACI-Lewis). These underwent limb transplantation receiving a donor limb from a Lewis rat. The animals were examined daily and skin biopsies were performed. Results showed that all limbs were viable at 34 weeks and no rats demonstrated any clinical evidence of GVHD and biopsies were grade 0.

Rat limb allotransplantation: efficacy of subtherapeutic dose combination immunotherapy with cyclosporine (CsA) and RS-61443

The synergic effect of subtherapeutic doses of cyclosporine and RS-61443 was demonstrated in a vascularized rat hindlimb allotransplantation across a strong histocompatibility barrier (Brown-Norway as donors and Fischer 344 as recipients). Low doses of agents in combination minimized the toxicity while increasing the therapeutic efficacy. All animals showed weight loss during the first 15 days posttransplantation and they regained protective sensation within 45 postoperative days. Only 15.38 per cent of the animals presented complications: thrombosis, enteritis, autophagia and disorders of unknown etiology.