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1.
Sportverletz Sportschaden ; 21(2): 93-7, 2007 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-17559024

RESUMO

AIM: The most recent meta-analysis of randomized trials recommended open repair for competitive athletes suffering from Achilles tendon rupture due to low re-rupture rates and recommended for all other patients percutaneous repair. The report did not include patients with open augmented repair. The aim of this study was to analyse our results with open augmented repair after Silfverskjöld and to discuss whether this method is an alternative form of treatment, especially for athletes. METHODS: This retrospective study included all patients who received open augmented repair in the Silfverskjöld technique between the years 1996 and 2002. A total of 104 patients were clinically evaluated, involving ultrasound as well, and were scored according to the Thermann scale. The average age was 43 years. The operation took place on average within 5.7 days. Twenty athletes were identified and were compared with non-athletes using the Thermann scale and the two randomsample t-tests. The follow-up period averaged 3.7 years. RESULTS: Overall, the results were rated as good, with an average of 88.1 points. The re-rupture rate was 1.9% (2 out of 104) with a deep infection incidence of 2.8% (3 out of 104). Athletes averaged 88.7 and non-athletes 88.0 points. No significant difference was recorded (t=0.98). Nineteen out of 20 (95%) athletes and 48 out of 84 (57%) non-athletes were able to return to their original level of sport activity. CONCLUSIONS: Open augmented repair after Silfverskjöld is found to be a real alternative to simple open reconstruction of Achilles tendon ruptures. Clinical outcome in both athletes and nonathletes was recorded as good to very good. Especially athletes were able to regain their original activity level with an overall low re-rupture and infection rate.


Assuntos
Tendão do Calcâneo/lesões , Traumatismos em Atletas/cirurgia , Traumatismos dos Tendões/cirurgia , Transferência Tendinosa/métodos , Tendão do Calcâneo/cirurgia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Imobilização , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Ruptura , Prevenção Secundária , Técnicas de Sutura
2.
Mayo Clin Proc ; 75(10): 1093-8, 2000 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11040859

RESUMO

Etanercept may play an important role in modulating the inflammatory activity and progression of human immunodeficiency virus (HIV)-associated psoriasis and psoriatic arthritis. We report the case of a 45-year-old homosexual man with a CD4 cell count of less than 0.05 x 10(9)/L and an HIV viral load of 4200 copies/mL (while receiving highly active antiretroviral therapy) who developed extensive psoriatic plaques, 4.5-kg weight loss, onychodystrophy, and psoriatic arthropathy with severe periarticular bone demineralization. The arthritis progressed despite the use of several disease-modifying medications, including corticosteroids, hydroxychloroquine, and minocycline. Because of uncontrolled, progressive, and disabling arthritis and resulting profound disability, he was treated with etanercept. Within 3 weeks, his psoriasis had improved dramatically and his joint inflammation had stabilized. For the next 4 months, immunologic and viral parameters remained stable, but his clinical course was complicated by frequent polymicrobial infections. Etanercept was thus discontinued despite continued improvements in his psoriasis, psoriatic arthritis, and functional status. While both cutaneous and joint manifestations of psoriasis improved dramatically, the experience with this patient dictates that caution and careful follow-up must be exercised when prescribing etanercept in the setting of HIV infection.


Assuntos
Antirreumáticos/uso terapêutico , Artrite Psoriásica/tratamento farmacológico , Infecções por HIV/complicações , Imunoglobulina G/uso terapêutico , Imunossupressores/uso terapêutico , Receptores do Fator de Necrose Tumoral/uso terapêutico , Fármacos Anti-HIV/uso terapêutico , Antirreumáticos/efeitos adversos , Artrite Psoriásica/virologia , Contagem de Linfócito CD4 , Etanercepte , Seguimentos , Infecções por HIV/tratamento farmacológico , Homossexualidade Masculina , Humanos , Imunoglobulina G/efeitos adversos , Imunossupressores/efeitos adversos , Masculino , Pessoa de Meia-Idade , Psoríase/tratamento farmacológico , Psoríase/virologia , Proteínas Recombinantes , Carga Viral
3.
Neurotoxicology ; 22(1): 99-107, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11307856

RESUMO

A histochemical-morphometric method was used to measure potassium (K+) levels in gray and white matter of rats following sublethal intoxication with 11 different neurotoxic compounds of high forensic significance. Six rats were each given a single substance applied intraperitoneally, the same dosage being given to two animals each. The animals were subsequently killed, the brains immediately frozen, and cryosections cut. K+ levels were evaluated morphometrically. A drop in K+ levels was used as the criterion for cytotoxic edema. Application of ethanol, atropine, carbromal, carbon monoxide, morphine or triethyltin led to a rise in K+ levels in the gray matter and a simultaneous decline in the white matter. By contrast, administration of amitriptyline, glycerin, potassium cyanide, parathion or phenobarbital initiated an increase in K+ levels in both gray and white matter. A cytotoxic edema could thus be reliably excluded in these intoxications. Although the study design allows no statistical analysis, these conclusions are supported by the marked differences in K+ levels in gray and white matter induced by the different toxicants.


Assuntos
Química Encefálica/efeitos dos fármacos , Encéfalo/patologia , Medicina Legal/métodos , Síndromes Neurotóxicas/patologia , Intoxicação/patologia , Potássio/metabolismo , Intoxicação Alcoólica/patologia , Animais , Astrócitos/efeitos dos fármacos , Astrócitos/ultraestrutura , Fenômenos Químicos , Físico-Química , Edema/induzido quimicamente , Edema/patologia , Feminino , Intoxicação/metabolismo , Ratos , Ratos Sprague-Dawley
4.
Exp Toxicol Pathol ; 52(4): 348-52, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10987189

RESUMO

Cytotoxic edema is a phenomenon of the ischemically damaged brain. In the present study we tested a histochemical method that detects this phenomenon based on potassium (K+) levels in the brain. In a first series focal cerebral ischemia was induced by arterial occlusion in 23 gerbils (Meriones unguiculatus). After survival times of 30, 60 and 120 min, the animals were killed and brain section histochemically stained for potassium and quantitatively evaluated with a morphometric method. The results were compared with those using physicochemical techniques. A distinct K+ depletion could be demonstrated in the area of the focal ischemia within a survival time of 30 min, the depletion growing thereafter with increasing survival time. In a second series histochemical and chemical methods were used to study the stability of K+ levels in undamaged brains of 15 healthy rats during postmortem intervals of 2.5 and 5 h. Within these intervals K+ levels were clearly depleted, apparently as a result of cerebral spinal fluid (CSF) diffusion. Even if neuronal injury can be demonstrated histochemically after very brief survival times of about 30 min, postmortem storage of the cadavers rendered detection impossible due to electrolyte and water diffusion. In autoptic human cases, therefore, this technique is of no practical utility in detecting cytotoxic brain edema in postmortem tissue.


Assuntos
Edema Encefálico/fisiopatologia , Isquemia Encefálica/fisiopatologia , Potássio/análise , Equilíbrio Hidroeletrolítico , Animais , Autopsia , Encéfalo/patologia , Edema Encefálico/diagnóstico , Edema Encefálico/veterinária , Isquemia Encefálica/complicações , Isquemia Encefálica/veterinária , Modelos Animais de Doenças , Feminino , Gerbillinae , Humanos , Masculino , Mudanças Depois da Morte , Ratos , Ratos Sprague-Dawley
5.
Aktuelle Traumatol ; 23(4): 149-68, 1993 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-8101680

RESUMO

In polytrauma patients stabilisation of fractures is of minor importance compared with life-saving surgical interventions concerning the body cavities. Because of persisting instability especially of long bones with disadvantageous effects on the state of shock and the respiratory system (fat embolism, ARDS) early stabilisation of fractures should be achieved. In our experience the majority of cases allows external fixation of long bone fractures simultaneously with or following the life-saving operations. Postoperative positioning and nursing as well as additional diagnostic procedures are considerably facilitated. An early change of the stabilisation method should be performed as soon as possible if tolerated by the general and soft tissue conditions. Follow-up of 54 patients with 76 fractures stabilised primarily by external fixator demonstrates our experiences with planning and realisation of the change of stabilisation method. The functional and radiological results after an average of 28 months are pointed out.


Assuntos
Fixadores Externos , Fixação Interna de Fraturas , Traumatismo Múltiplo/cirurgia , Complicações Pós-Operatórias/cirurgia , Adolescente , Adulto , Idoso , Traumatismos do Braço/diagnóstico por imagem , Traumatismos do Braço/cirurgia , Criança , Feminino , Seguimentos , Fixação Intramedular de Fraturas , Consolidação da Fratura/fisiologia , Fraturas Expostas/diagnóstico por imagem , Fraturas Expostas/cirurgia , Humanos , Traumatismos da Perna/diagnóstico por imagem , Traumatismos da Perna/cirurgia , Masculino , Pessoa de Meia-Idade , Traumatismo Múltiplo/diagnóstico por imagem , Complicações Pós-Operatórias/diagnóstico por imagem , Reoperação , Tomografia Computadorizada por Raios X
6.
J Bone Joint Surg Br ; 90(9): 1164-71, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18757955

RESUMO

Deficiencies of acetabular bone stock at revision hip replacement were reconstructed with two different types of allograft using impaction bone grafting and a Burch-Schneider reinforcement ring. We compared a standard frozen non-irradiated bone bank allograft (group A) with a freeze-dried irradiated bone allograft, vitalised with autologous marrow (group B). We studied 78 patients (79 hips), of whom 87% (69 hips) had type III acetabular defects according to the American Academy of Orthopaedic Surgeons classification at a mean of 31.4 months (14 to 51) after surgery. At the latest follow-up, the mean Harris hip score was 69.9 points (13.5 to 97.1) in group A and 71.0 points (11.5 to 96.5) in group B. Each hip showed evidence of trabeculation and incorporation of the allograft with no acetabular loosening. These results suggest that the use of an acetabular reinforcement ring and a living composite of sterile allograft and autologous marrow appears to be a method of reconstructing acetabular deficiencies which gives comparable results to current forms of treatment.


Assuntos
Acetábulo/cirurgia , Artroplastia de Quadril/métodos , Transplante Ósseo/métodos , Procedimentos de Cirurgia Plástica/métodos , Transplante Homólogo/métodos , Acetábulo/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Artroplastia de Quadril/efeitos adversos , Estudos de Casos e Controles , Feminino , Seguimentos , Prótese de Quadril , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Radiografia , Reoperação , Resultado do Tratamento
7.
Injury ; 39(8): 932-9, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18582887

RESUMO

The treatment of unstable trochanteric femoral fractures is still challenging. The ideal implant should be easy to handle, allow for immediate full weight-bearing postoperatively and should have sufficient purchase in the femoral head/neck-fragment to limit cut-outs due to varus-deviation and rotation. The proximal femoral nail antirotation (PFNA), designed by AO, is an intramedullary device with a helical blade rather than a screw for better purchase in the femoral head and was tested in a clinical study. Consecutive patients with unstable trochanteric fractures (AO-classification 31.A.2 and A.3 only) were included and followed for 1 year. Primary objectives were assessment of operative and postoperative complications, whereas secondary objectives included surgical details, general complications and final outcome measurements. In 11 European clinics, 315 patients were included and treated with a PFNA. Almost all fractures healed within 6 months. Fifty-six percent of the patients regained the pre-trauma mobility and 18% died within the follow-up period. Forty-six implant-related complications--leading to 28 unplanned re-operations--were recorded, with four acetabular penetrations (three of which were after a new fall on that hip) and seven ipsilateral femoral shaft fractures as the most serious ones. As the joint-penetrations did not resemble the cut-out seen with other implants it is concluded that the PFNA--due to its helical blade--possibly limits the effects of early rotation of the head/neck-fragment in unstable trochanteric fractures and therefore seems currently to be the optimal implant for the treatment of these fractures especially in osteoporotic bone.


Assuntos
Pinos Ortopédicos/normas , Cabeça do Fêmur/cirurgia , Fixação Interna de Fraturas/efeitos adversos , Fraturas do Quadril/cirurgia , Atividades Cotidianas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Desenho de Equipamento , Feminino , Fêmur/cirurgia , Cabeça do Fêmur/lesões , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Estatística como Assunto , Resultado do Tratamento
8.
Z Orthop Unfall ; 145 Suppl 1: S29-33, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17939095

RESUMO

PURPOSE: Periprosthetic fractures in cases without prior loosening of the stem can be treated with open reduction and internal fixation, but cases with preexisting loosening and/or bone defects present specific challenges to the surgeon. The keys to the success of intramedullary stabilization of femoral fractures--reconstruction of length, axis and rotation rather than meticulous reduction of the fragments and minimal impact on fragment vascularization by the surgical approach--can be transferred to the treatment of periprosthetic fractures. METHOD: The Bicontact revision stem can be regarded as a combination of an interlocking nail in its distal part and a proximally coated femoral stem in its proximal part. The transfemoral approach respects the vascularization of the bone, although it is not minimally invasive. Forty-one patients with a mean age of 72.3 years and a periprosthetic fracture were included in this study. According to the Vancouver classification there were 2 type A fractures of the trochanteric region, 14 were B1, 8 were B2 with prior loosening, 13 were B3 with significant bone loss, and 2 fractures were distal to the tip of the prosthesis (type C). RESULTS: In all patients, intramedullary stabilization with a Bicontact revision stem was performed. All but three fractures healed (pathologic fracture with multiple myeloma in one case, impaired bone healing in two cases). In 7 patients, further procedures had to be undertaken (new periprosthetic fracture in 2, loosening and revision with a standard prosthesis in 2, revision with a long stem prosthesis together with bone grafting in 3 cases). At follow-up, after a mean of 4.3 years, all patients were able to walk, and the mean Harris Hip Score was 71.1 points. CONCLUSION: In conclusion, combined application of the principles of intramedullary nailing and of uncemented total hip replacement by use of the distally interlocked Bicontact revision stem enables successful treatment of periprosthetic femoral fractures.


Assuntos
Fraturas do Fêmur/cirurgia , Fraturas do Quadril/cirurgia , Prótese de Quadril , Falha de Prótese , Adulto , Idoso , Idoso de 80 Anos ou mais , Materiais Revestidos Biocompatíveis , Feminino , Fraturas do Fêmur/diagnóstico por imagem , Seguimentos , Fixação Intramedular de Fraturas/instrumentação , Consolidação da Fratura/fisiologia , Fraturas do Quadril/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Desenho de Prótese , Radiografia , Reoperação
9.
Z Orthop Unfall ; 145 Suppl 1: S20-4, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17939093

RESUMO

AIM: In this prospective randomised study, the influence of different bearing materials on migration and wear was measured and their effect on the function of the artificial joint and the patient outcome was investigated. Mid-term results were recorded so that recommendations can be made on the use of certain bearings, which minimise wear and thus the danger of subsequent aseptic loosening. METHOD: Sixty-six patients met the inclusion criteria and were willing to take part in the study. These patients were randomised to 2 groups. All of them had total hip arthroplasty with implantation of a cementless Bicontact stem and Plasmacup using a cementless press-fit technique. Thirty-five of these patients were given a ceramic-ceramic bearing and 31 patients a ceramic-polyethylene bearing (gamma sterilised/nitrogen environment). At the most recent follow-up, they underwent detailed clinical and radiological examination and evaluation by means of the Harris Hip Score, Hannover function questionnaire and single-film X-ray analysis (EBRA). RESULTS: The overall follow-up rate was 65.2 % (43 of 66) and the mean follow-up period was 8.1 (7.1 - 9.2) years. The median Harris Hip Score at the time of follow-up was 90.1 (58.7 - 99.9) points. The average Hannover function score was 87.14 % (63.9 - 100). In 4 of 66 cases (6.1 %) there was a tendency for the Plasmacup to subsidence in the first postoperative months that was slight but detectable by EBRA; however, this stopped subsequently. This primary subsidence was independent of the chosen bearing material. No significant difference in the clinical and radiological parameters was found between the two groups. CONCLUSION: The very good results with regard to the rate of loosening confirm the press-fit cup fixation concept. The study shows a similar medium-term result for the ceramic-ceramic and ceramic-polyethylene bearing so that use of both bearings can continue to be recommended. Only long-term studies with sufficiently large numbers of patients will be able to show whether significant differences can be detected between the two slide bearings with regard to wear and migration behaviour and so that a recommendation can be given to the surgeon.


Assuntos
Cerâmica , Materiais Revestidos Biocompatíveis , Prótese de Quadril , Processamento de Imagem Assistida por Computador , Polietileno , Complicações Pós-Operatórias/diagnóstico por imagem , Falha de Prótese , Titânio , Adulto , Idoso , Cimentação , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Desenho de Prótese , Radiografia , Reoperação
10.
Z Orthop Unfall ; 145 Suppl 1: S34-9, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17939097

RESUMO

AIM: With the steady growth in the number of hip arthroplasty revision operations, the concept and long-term results of the Bicontact revision stem with distal interlocking for the treatment of extensive femoral bone defects were investigated in this prospective study. METHOD: The first 156 stem revision operations performed between January 1992 and December 2002 were evaluated. The indication for operation was aseptic loosening in 133, stem fracture in 14, recurrent dislocation in 2 and reimplantation following Girdlestone removal of a septic prosthesis in 7. The cup component was revised at the same time in 74 cases. RESULTS: Higher-grade femoral bone defects were found intraoperatively in 66 %. The average age of the patients was 71.4 (34 - 88) years at operation and 76.9 (44 - 94) years at the last follow-up. The average period until follow-up, re-revision or loss to follow-up was 5.54 (0.1 - 14.9) years. The clinical and radiological follow-up rate (with reference to the total number of patients) was 35 % (55 von 156), and 51 % (55 of 107) with reference to patients still living. The median Harris Hip Score was 63.7 points. In the observation period, 12 stems were exchanged for a cemented standard stem, 5 stems were removed because of infection and 2 stems were revised because of periprosthetic fracture. The calculated survival rate for the stems after 14.9 years was 85.9 %. CONCLUSION: The 15-year results confirm the biomechanical concept of the Bicontact revision stem with optional distal interlocking for the treatment of extensive bone defects in stem revision surgery.


Assuntos
Materiais Revestidos Biocompatíveis , Fraturas do Quadril/cirurgia , Prótese de Quadril , Complicações Pós-Operatórias/cirurgia , Falha de Prótese , Titânio , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Fêmur/diagnóstico por imagem , Fêmur/cirurgia , Seguimentos , Fixação Intramedular de Fraturas/instrumentação , Fraturas do Quadril/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Ossificação Heterotópica/diagnóstico por imagem , Ossificação Heterotópica/cirurgia , Complicações Pós-Operatórias/diagnóstico por imagem , Desenho de Prótese , Radiografia , Reoperação
11.
Z Orthop Unfall ; 145 Suppl 1: S3-8, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17939096

RESUMO

AIM: A prospective long-term study of the first 250 cementless Bicontact stems implanted in the BG Trauma Centre, Tuebingen, Germany. METHOD: All of the patients in this series (treatment period June 1987 to April 1990) who were still contactable were invited for clinical and radiological follow-up. The radiographs were analysed for signs of loosening in the form of Gruen lysis zones, stress shielding, subsidence behaviour, heterotopic ossification and spot welds. RESULTS: The average follow-up period was 17.8 (16.7 - 19.5) years. The overall rate of follow-up was 65 % (162 of 250) and 91 % of patients who were still alive (162 of 179). The average patient age was 56.2 years at the time of operation and 74.0 years at follow-up. The average HHS was 81.6 points. In the course of the first 10 years (up to 03/1998), a total of 8 stem revisions had to be performed. In the period from 03/1998 to 01/2007, 2 cases of loosening requiring revision occurred in the patients still alive at the time of follow-up. The survival rate calculated was thus 95.6 %. CONCLUSION: These outstanding results provide enduring support for the philosophy of the cementless and bone-preserving fixation principles underlying the Bicontact hip stem with proximal intertrochanteric transmission of forces and high primary rotational stability.


Assuntos
Materiais Revestidos Biocompatíveis , Prótese de Quadril , Titânio , Adulto , Idoso , Idoso de 80 Anos ou mais , Transplante Ósseo , Cimentação , Feminino , Fraturas do Colo Femoral/cirurgia , Necrose da Cabeça do Fêmur/cirurgia , Seguimentos , Luxação Congênita de Quadril/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Ossificação Heterotópica/diagnóstico por imagem , Ossificação Heterotópica/cirurgia , Osteoartrite do Quadril/cirurgia , Medição da Dor , Porosidade , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/cirurgia , Estudos Prospectivos , Desenho de Prótese , Falha de Prótese , Radiografia , Reoperação , Infecção da Ferida Cirúrgica/diagnóstico por imagem , Infecção da Ferida Cirúrgica/cirurgia , Análise de Sobrevida
12.
Z Orthop Unfall ; 145(2): 207-11, 2007.
Artigo em Alemão | MEDLINE | ID: mdl-17492562

RESUMO

AIM: The most recent meta-analysis of randomized trials recommended open repair for competitive athletes suffering from Achilles tendon rupture due to low re-rupture rates and recommended for all other patients percutaneous repair. The report did not include patients with open augmented repair. The aim of this study was to analyse our results with open augmented repair after Silfverskjöld and to discuss whether this method is an alternative form of treatment,especially for athletes. METHOD: This retrospective study included all patients who received open augmented repair in the Silfverskjöld technique between the years 1996 and 2002. A total of 104 patients were clinically evaluated, involving ultrasound as well,and were scored according to the Thermann scale. The average age was 43 years. The operation took place on average within 5.7 days. Twenty athletes were identified and were compared with all non-athletes using the Thermann scale and the two random sample t-tests. The follow-up period averaged 3.7 years. RESULTS: Overall, the results were rated as good,with an average of 88.1 points. The re-rupture rate was 1.9% (2 out of 104) with a deep infection incidence of 2.8% (3 out of 104). Athletes averaged 88.7 and non-athletes 88.0 points. No significant difference was recorded (t = 0.98). Nineteen out of 20 (95%) athletes and 48 out of 84(57%) non-athletes were able to return to their original level of sport activity. CONCLUSIONS: Open augmented repair after Silfverskjöld is found to be a real alternative to simple open reconstruction of Achilles tendon ruptures. Clinical outcome in both athletes and non athletes was recorded as good to very good. Especially athletes were able to regain their original activity level with an overall low re-rupture and infection rate.


Assuntos
Tendão do Calcâneo/lesões , Tendão do Calcâneo/cirurgia , Traumatismos em Atletas/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Traumatismos dos Tendões/cirurgia , Adulto , Idoso , Traumatismos em Atletas/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recuperação de Função Fisiológica , Estudos Retrospectivos , Ruptura/diagnóstico , Ruptura/cirurgia , Traumatismos dos Tendões/diagnóstico , Resultado do Tratamento
13.
Ann Neurol ; 9(3): 225-31, 1981 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-6784662

RESUMO

Infantile, juvenile, and adult forms of GM1 gangliosidosis have been well characterized. Certain genetic and biochemical studies have suggested that the phenotypic variation found in GM1 gangliosidosis results from different allelic mutations affecting the GM1 ganglioside beta-galactosidase locus and that different combinations of these mutations accounts for the clinical heterogeneity of this illness. A family in which both the infantile and juvenile forms of GM1 gangliosidosis occurred, the children sharing a common mutation of their acid beta-galactosidase activity, supports the allelic nature of these different clinical forms of the disease. From the observations made in this unique family, additional phenotypes of GM1 gangliosidosis might be anticipated.


Assuntos
Gangliosídeo G(M1)/metabolismo , Gangliosídeos/metabolismo , Gangliosidoses/genética , Variação Genética , Alelos , Feminino , Gangliosidoses/classificação , Gangliosidoses/enzimologia , Humanos , Masculino , Linhagem , Fenótipo , beta-Galactosidase/genética , beta-Galactosidase/metabolismo
14.
Z Urol Nephrol ; 80(1): 43-6, 1987 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-3577442

RESUMO

On the basis of two own cases and the present literature causes, symptoms and forms of the course of the spontaneous extravasation of contrast remedies are described. In the predominant part of the cases a conservative therapy is indicated. In a persisting rupture of the pelvicalyceal system in dependence of the clinical symptomatology an operative approach becomes necessary.


Assuntos
Extravasamento de Materiais Terapêuticos e Diagnósticos/etiologia , Urografia , Adulto , Idoso , Feminino , Humanos , Pielonefrite/diagnóstico por imagem , Cálculos Ureterais/diagnóstico por imagem , Obstrução Ureteral/diagnóstico por imagem
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