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1.
Sci Rep ; 13(1): 2387, 2023 02 10.
Artículo en Inglés | MEDLINE | ID: mdl-36765161

RESUMEN

In cases where mobility and joint function are impaired after implantation of a THA, weakening of hip movement in both extension/flexion and adduction/abduction may play a role due to shortening of the physiological lever arm of the hip muscles. Mechanical factors of influence include the lateral femoral offset, which affects the lever arm, and the antetorsion angle of the hip prosthesis, which affects the anterior femoral offset. This study aimed to investigate the effect of an altered antetorsion angle of the implant on the hip moments and gait patterns of the patient. For this study, 13 patients with a conventional stem on one side and a calcar-guided short stem implanted on the contralateral side were included. To determine the maximum hip moment, tests were performed on a dynamometer in extension/flexion and adduction/abduction in addition to gait analysis. As a control, a comparison was made with data from a reference group of 30 healthy subjects. Both implants showed similar symmetry indices. There was a significant difference between the implants for adduction moments (p < 0.001). The ratios between the directions of moments showed no significant differences. The joint function measured by isokinetic measurements and gait analysis remains comparable to the healthy control group after short stem arthroplasty, but shows slight changes after conventional stem arthroplasty.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Prótesis de Cadera , Humanos , Articulación de la Cadera/cirugía , Fémur/diagnóstico por imagen , Fémur/cirugía , Cadera
2.
Arch Orthop Trauma Surg ; 142(7): 1669-1680, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34231044

RESUMEN

INTRODUCTION: Short femoral hip stems with a metaphyseal anchoring concept have been designed to treat younger patients with good bone quality. The aim of this study was to reconstruct the centre of rotation and soft tissue balancing and preserve bone in the long-term perspective. MATERIALS AND METHODS: Eighteen human femurs were randomised into three groups: (1) metaphyseal anchoring short stem, (2) shortened straight stem, (3) straight stem). Prior to the implantation of the hip stems, a computed tomography (CT) of the bones was performed and the femoral ante-torsion and ante-tilt was measured and compared to the results of the post-implantation CT. This could be calculated based on the 3D coordinates taken from the pre- and post-op CT scans, which were transformed into the same coordinate systems. RESULTS: The mean preoperative caput-collum-diaphyseal (CCD) angle for the three groups was 126.87° ± 3.50° (Group 3: 129.64° ± 3.53°, Group 1: 123.76° ± 5.56°, Group 2: 127.53° ± 1.42°) and was consistent with published reports. The postoperative CCD angles with 126.85° ± 3.43° were within a very good reconstruction range for all three groups. The anterior offset comparison among these three groups showed significant difference in reconstruction. The smallest difference between the anatomical (preoperative) and postoperative condition was seen in Group 1 (1.47° ± 0.60°), followed by Group 2 (3.60° ± 0.23°) and Group 3 (8.00° ± 0.70°) groups. The horizontal offset showed no significant difference among the groups and was within the window of ± 5 mm. CONCLUSION: In this cadaver study, we found that the metaphyseal anchoring, partially neck-preserving short hip stem best reconstructs the ante-torsion and the ante-tilt of the femoral neck. Therefore, it can be a useful stem in younger or active middle-aged patients.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Prótesis de Cadera , Artroplastia de Reemplazo de Cadera/métodos , Cadáver , Fémur/diagnóstico por imagen , Fémur/cirugía , Humanos , Persona de Mediana Edad , Tomografía Computarizada por Rayos X/métodos
3.
Oper Orthop Traumatol ; 34(2): 117-128, 2022 Apr.
Artículo en Alemán | MEDLINE | ID: mdl-34905072

RESUMEN

OBJECTIVES: Treatment of pathologies of the central and peripheral compartment of the hip using arthroscopic assisted mini-open arthrotomy via the Smith-Petersen approach. INDICATIONS: Cam- and pincer-type femoroacetabular impingement (FAI), labral tear, loose bodies. (RELATIVE) CONTRAINDICATIONS: Osteoarthritis of the hip with Tönnis classification grade ≥ 2. SURGICAL TECHNIQUE: After mini-open approach to the hip joint via direct anterior muscular gap, the anterior capsule is split with protection of the labrum. Decompression allows the joint to be inspected using an arthroscope. Depending on the intra-articular findings, additional procedures can be performed (e.g., curettage of the cartilage, microfracturing, matrix-induced autologous chondrocyte implantation [MACI]). Cases with pincer-type FAI or labral tear can also be addressed. After partial release, the cam-type FAI can be resected using a surgical burr. POSTOPERATIVE MANAGEMENT: Partial weightbearing for 2-6 weeks with 10-20 kg or half body weight using crutches depending on the intraoperative treatment. RESULTS: Radiological analysis of the pre- and postoperative X­rays (n = 69) prove that this surgical technique is suitable to address pathologies especially FAI syndromes. The α­angle according to Nötzli could be reduced from a mean preoperative value of 72.8° to 49.4° postoperative. In combined cam-type and Pincer-type FAI syndrome (n = 16), the lateral center-edge angle could be reduced from a mean preoperative value of 50.2° to 37.6° postoperatively. The clinical follow-up (n = 29) revealed good midterm outcomes after arthroscopic assisted mini-open arthrotomy (modified Harris Hip Score [mHHS] 84.8 points after 4.9 years [range 4.2-5.7; ±0.43]).


Asunto(s)
Artroplastia de Reemplazo de Cadera , Pinzamiento Femoroacetabular , Artroscopía/métodos , Pinzamiento Femoroacetabular/diagnóstico por imagen , Pinzamiento Femoroacetabular/cirugía , Articulación de la Cadera/cirugía , Humanos , Resultado del Tratamiento
4.
Osteoarthritis Cartilage ; 29(11): 1614-1623, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34455078

RESUMEN

OBJECTIVE: Osteonecrosis of the femoral head (ONFH) is a devastating disease of the hip joint. Its early diagnosis is crucial to increase the chances of joint preserving, yet difficult due to similarities with osteoarthritis (OA) of the hip in its clinical appearance. The purpose of this study was to enhance the understanding of ONFH and its pathologic processes in contrast to OA and to identify serum biomarkers helping to improve the diagnosis of the disease. DESIGN: Bone and bone marrow samples were collected from 24 patients diagnosed with OA and 25 patients with ONFH during total hip replacement surgery. RNA was isolated, histological examination, determination of free reactive oxygen species as well as gene expression and biomarker analysis were performed. RESULTS: Histological analysis revealed differences in the structural and cellular pattern between the groups. Gene expression analysis revealed a significant upregulation for the genes ASPN, COL1A1, COL2A1 and IL6 and a significant downregulation for HIF1A in ONFH compared to OA group. Analysis of serum biomarkers showed significant differences between the groups for asporin and adiponectin. A final logistical regression model including the parameters adiponectin, asporin and HIF 1α was overall significant, explained 34.5 % of variance and classified 74.5 % of the cases correctly. CONCLUSION: The combination of adiponectin, asporin and HIF 1α as serum biomarkers revealed a classification accuracy of 74.5 %. The information provided in this study may help to enhance the understanding of pathologic processes in ONFH and to elaborate further aspects of prediction and treatment.


Asunto(s)
Necrosis de la Cabeza Femoral/metabolismo , Osteoartritis de la Cadera/metabolismo , Adiponectina/sangre , Biomarcadores/metabolismo , Cadena alfa 1 del Colágeno Tipo I/genética , Cadena alfa 1 del Colágeno Tipo I/metabolismo , Colágeno Tipo II/genética , Colágeno Tipo II/metabolismo , Regulación hacia Abajo , Proteínas de la Matriz Extracelular/genética , Proteínas de la Matriz Extracelular/metabolismo , Femenino , Expresión Génica , Humanos , Subunidad alfa del Factor 1 Inducible por Hipoxia/genética , Subunidad alfa del Factor 1 Inducible por Hipoxia/metabolismo , Interleucina-6/genética , Interleucina-6/metabolismo , Masculino , Persona de Mediana Edad , ARN Mensajero/metabolismo , Regulación hacia Arriba
5.
J Orthop ; 25: 288-294, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34140757

RESUMEN

INTRODUCTION: The aim of this study was to determine number and type of failures and revisions after usage of a constrained tripolar acetabular liner in patients with high risk of dislocation. Potential correlations between these failures and the factors included were analyzed. MATERIALS AND METHODS: In this retrospective study 55 participants in 68 cases were included after treatment with constrained tripolar acetabular liner. Patient specific data as well as surgery and implant specific data were collected. Radiological images were assessed. Furthermore, the gluteal function was analyzed. The parameters were statistically verified with regard to their influence on the failure of the constrained tripolar liner. RESULTS: This study included 16 cases (in nine participants) of postoperative failure. This results in a survival rate of 76.5% regarding the number of cases after 17 months. The statistical analysis of the different parameters considered that the number of previous surgeries has a significant (p = 0.027) influence on the failure. CONCLUSIONS: This retrospective study shows that treatment with constrained tripolar acetabular liners is a satisfactory method of treatment in cases with a high risk of dislocation. However, in cases with an increasing number of previous surgeries, an increased risk of failure was found. Therefore, in such cases, this type of supply treatment should be treated critically.

6.
Arch Orthop Trauma Surg ; 140(6): 827-833, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32157370

RESUMEN

INTRODUCTION: Computed tomography-based three-dimensional models may allow the accurate determination of the center of rotation, lateral and anterior femoral offsets, and the required implant size in total hip arthroplasty. In this cadaver study, the accuracy of anatomical reconstruction was evaluated using a three-dimensional planning tool. MATERIALS AND METHODS: A total of eight hip arthroplasties were performed on four bilateral specimens. Based on a computed tomography scan, the position and size of the prosthesis were templated with respect to the anatomical conditions. RESULTS: On average, all parameters were reconstructed to an accuracy of 4.5 mm and lie within the limits recommended in the literature. All prostheses were implanted with the templated size. CONCLUSIONS: The exact anatomy of the patient and the required size and position of the prosthesis were precisely analyzed using a templating software. Based on the present findings, the development of template-directed instrumentation is conceivable using this method. However, further technical features (e.g., navigation or robot-assisted surgery) are required for improved precision for implant positioning.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Articulación de la Cadera , Imagenología Tridimensional , Modelación Específica para el Paciente , Articulación de la Cadera/diagnóstico por imagen , Articulación de la Cadera/cirugía , Prótesis de Cadera , Humanos , Tomografía Computarizada por Rayos X
7.
Trials ; 16: 299, 2015 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-26162825

RESUMEN

BACKGROUND: After total knee replacement, overall blood loss is often underestimated, although it exceeds the visible blood loss caused by bleeding into the tissues or into the joint. The use of fibrin sealants during surgery has been suggested to reduce perioperative blood loss and transfusion rates and may be beneficial for patient recovery and the postoperative function of the joint. METHODS/DESIGN: This will be a single-centre, single-blinded, randomised controlled trial with a parallel design, for which 68 patients undergoing total knee replacement will be recruited and followed up at 3, 6 and 12 months; 34 will be control patients who will receive the standard orthopaedic surgery treatment (electrocoagulation), and the other 34 will receive the same treatment plus 5 ml EVICEL™ applied during surgery and used according to the manufacturer's instructions. The primary objective is to test the null hypothesis that the effect of EVICEL™ for controlling haemostasis and reducing postoperative blood loss in patients undergoing total knee replacement is not superior to the use of electrocoagulation alone. The secondary objective is to show that EVICEL™ reduces the need for transfusion, increases range of motion, improves clinical outcome and wound healing, and reduces the need for analgesics. The tertiary objective is to show that EVICEL™ reduces the costs of total knee replacement treatment. DISCUSSION: So far, studies on the effect of fibrin sealants in total knee replacement have delivered inconsistent and ambivalent results, indicating that there is still a need for high-evidence studies as proposed in the presented study protocol. TRIAL REGISTRATION: German registration number DRKS00007564; date of registration: 26 November 2014.


Asunto(s)
Artroplastia de Reemplazo de Rodilla , Pérdida de Sangre Quirúrgica/prevención & control , Adhesivo de Tejido de Fibrina/uso terapéutico , Hemostáticos/uso terapéutico , Hemorragia Posoperatoria/prevención & control , Anciano , Artroplastia de Reemplazo de Rodilla/efectos adversos , Artroplastia de Reemplazo de Rodilla/economía , Fenómenos Biomecánicos , Transfusión Sanguínea , Protocolos Clínicos , Análisis Costo-Beneficio , Costos de los Medicamentos , Electrocoagulación , Femenino , Adhesivo de Tejido de Fibrina/efectos adversos , Adhesivo de Tejido de Fibrina/economía , Alemania , Hemostáticos/efectos adversos , Hemostáticos/economía , Costos de Hospital , Humanos , Articulación de la Rodilla/fisiopatología , Articulación de la Rodilla/cirugía , Masculino , Persona de Mediana Edad , Hemorragia Posoperatoria/economía , Hemorragia Posoperatoria/etiología , Rango del Movimiento Articular , Recuperación de la Función , Proyectos de Investigación , Factores de Riesgo , Método Simple Ciego , Factores de Tiempo , Resultado del Tratamiento , Cicatrización de Heridas/efectos de los fármacos
8.
Arch Orthop Trauma Surg ; 135(5): 607-12, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25750110

RESUMEN

STUDY DESIGN: Radiological study. PURPOSE: To asses standard values, intra- and interobserver reliability and reproducibility of sacral slope (SS) and lumbar lordosis (LL) and the correlation of these parameters in patients with lumbar spinal stenosis (LSS). METHODS: Anteroposterior and lateral X-rays of the lumbar spine of 102 patients with LSS were included in this retrospective, radiologic study. Measurements of SS and LL were carried out by five examiners. Intraobserver correlation and correlation between LL and SS were calculated with Pearson's r linear correlation coefficient and intraclass correlation coefficients (ICC) were calculated for inter- and intraobserver reliability. In addition, patients were examined in subgroups with respect to previous surgery and the current therapy. RESULTS: Lumbar lordosis averaged 45.6° (range 2.5°-74.9°; SD 14.2°), intraobserver correlation was between Pearson r = 0.93 and 0.98. The measurement of SS averaged 35.3° (range 13.8°-66.9°; SD 9.6°), intraobserver correlation was between Pearson r = 0.89 and 0.96. Intraobserver reliability ranged from 0.966 to 0.992 ICC in LL measurements and 0.944-0.983 ICC in SS measurements. There was an interobserver reliability ICC of 0.944 in LL and 0.990 in SS. Correlation between LL and SS averaged r = 0.79. No statistically significant differences were observed between the analyzed subgroups. CONCLUSION: Manual measurement of LL and SS in patients with LSS on lateral radiographs is easily performed with excellent intra- and interobserver reliability. Correlation between LL and SS is very high. Differences between patients with and without previous decompression were not statistically significant.


Asunto(s)
Diagnóstico por Imagen/métodos , Lordosis/diagnóstico por imagen , Vértebras Lumbares/diagnóstico por imagen , Radiología/normas , Sacro/diagnóstico por imagen , Estenosis Espinal/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Lordosis/diagnóstico , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Radiografía , Estándares de Referencia , Reproducibilidad de los Resultados , Estenosis Espinal/diagnóstico
9.
Orthopade ; 44(3): 193-202, 2015 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-25319257

RESUMEN

BACKGROUND: It is well known that morbidity rates of arthroplasties are inversely related to procedure volume. In the department of orthopaedics at a German medical school, a performance of certification of high-volume center for total hip and knee arthroplasties, called the EndoCert(®) Initiative, was started. This project was initiated by the German society of orthopaedic surgery (DGOOC) to secure the quality of total knee and hip arthroplasties. OBJECTIVES: The aim of this study is to evaluate effects of certification, pathwaycontrolled therapy and quality indicators on outcome in arthroplasty three years after implentation. MATERIALS AND METHODS: Arthroplasties performed in this certified center for total hip and knee arthroplasties were evaluated. Outcome was evaluated after the implementation of quality indicators and clinical pathways. RESULTS: After establishment of certification in the center for total hip and knee arthroplasties morbidity rates decreased as quality increased. CONCLUSION: The implementation of pathway-controlled therapy and quality indicators in a high-volume center for total joint arthroplasties shows better clinical results. Capital investment and efforts are legitimated.


Asunto(s)
Artroplastia de Reemplazo de Cadera/normas , Artroplastia de Reemplazo de Rodilla/normas , Certificación/normas , Vías Clínicas/normas , Ortopedia/normas , Garantía de la Calidad de Atención de Salud , Alemania , Humanos , Sociedades Médicas/normas , Resultado del Tratamiento
10.
Technol Health Care ; 21(2): 149-55, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23510975

RESUMEN

BACKGROUND: Many short stems for total hip arthroplasty have been introduced by the manufacturers only during the last decade. One of them is the Nanos short stem (Smith and Nephew, Marl, Germany). The development of short stems was aimed at preserving bone and soft tissue by utilizing a minimally invasive approach, thus allowing a quick return to an active life. It was purpose of this study to evaluate the radiological changes after using this device. METHODS: We present the radiological results of 202 cementless THAs which were performed in 172 patients using the Nanos stem. Radiological evaluation was performed using standing anterior-posterior (AP) and lateral radiographs of the proximal femur preoperatively, postoperatively and during the follow up. We analyzed the preoperative and postoperativ CCD angle, the subsisdence, preoperative and postoperative offset, osteolysis, bone resorption, increased density, neocortex and periarthricular ossifications. RESULTS: One stem had to be revised due to subsidence four days after implantation. Two cups (BiconPlus, Smith and Nephew, Marl, Germany) had to be revised during the time of follow up due to an aseptic cup loosening. Two stems showed radiolucent lines at the implant-bone-interface at the last follow-up. An increase of bone density could be detected in 18 hips (8.9%). 14 hips showed periarticular ossifications. Measurable subsidence was detected in a total of four stems (1.9%). The preoperative neck-shaft-angle angle was 133.8 ± 4.4° (range: 118.5-146.2) and the neck-shaft-angle angle at the time of follow up was 134.6 ± 4.3° (range: 123.3-147; P< 0.05). The preoperative and postoperative offset changed from 109.3 ± 11.9 mm (range: 80.9-131.6) to 109.7 ± 12.3 mm (range: 79.7-155.6; P< 0.05). CONCLUSION: In summary, this study shows that a correct anatomical reconstruction is possible with a device of this design. The outcome is comparable to that of other short stems. Further studies should be performed in a prospective and randomized design to evaluate the advantage of such a device with a higher level of evidence.


Asunto(s)
Artroplastia de Reemplazo de Cadera/instrumentación , Prótesis de Cadera , Diseño de Prótesis , Anciano , Artroplastia de Reemplazo de Cadera/métodos , Femenino , Articulación de la Cadera/diagnóstico por imagen , Articulación de la Cadera/cirugía , Humanos , Masculino , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud/métodos , Radiografía
11.
Ann Anat ; 192(4): 237-46, 2010 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-20598515

RESUMEN

Traumatic and degenerative osteochondral lesions are a common problem in orthopaedic surgery. The concept of tissue engineering represents the possibility of a promising therapeutical approach. The purpose of this study has been to improve the characteristics of osteochondral grafts consisting of a human certified collagen I-bone hybrid matrix seeded with human bone marrow stromal cells and stimulated in a custom-made biomechanoreactor. This study was undertaken as a follow-up to our prior studies. Based on our established system, we added chondrogenic growth factors (IGF-1 and TGF-beta(2)) and evaluated their effect on chondrogenic differentiation. Constructs were stimulated for 14, 21 and 28 days respectively by different protocols, including cyclic mechanical stimulation, hormonal stimulation or a combination of both. More than 70% of the cells were viable throughout the entire experimental period. Histological analysis revealed a homogeneous distribution of cells in a cartilage-like matrix organization. Immunohistological collagen II staining was positive irrespective of stimulation manner and time. Levels of DNA and glycosaminoglycans, having been normalized to DNA, did not change. Analysis of the biomechanical stiffness after 14 days showed increased stiffness in the hormonally and mechanically stimulated group compared to the static group. Stimulation time did not have a significant influence. The media supplements to foster the quality of the tissue tested here did not show any progress in our system. We conclude that cyclic compression enhances matrix stiffness, but stimulation time should be kept short and growth factors should be left out in this system with regard to clinical applicability and financial concerns.


Asunto(s)
Células de la Médula Ósea/fisiología , Huesos , Cartílago/crecimiento & desarrollo , Condrocitos/citología , Condrogénesis , Colágeno , Ingeniería de Tejidos/métodos , Fenómenos Biomecánicos , Reactores Biológicos , Células de la Médula Ósea/citología , Células Cultivadas , Colágeno/metabolismo , ADN/análisis , Matriz Extracelular/química , Glicosaminoglicanos/análisis , Humanos , Factor I del Crecimiento Similar a la Insulina/metabolismo , Estrés Mecánico , Células del Estroma/citología , Células del Estroma/fisiología , Factor de Crecimiento Transformador beta/metabolismo
12.
J Inherit Metab Dis ; 26(8): 813-5, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-14765537

RESUMEN

A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.


Asunto(s)
Mutación , NADH NADPH Oxidorreductasas/genética , Complejo I de Transporte de Electrón , Femenino , Genotipo , Humanos , Lactante , Masculino , NADH Deshidrogenasa
13.
Mitochondrion ; 2(1-2): 109-15, 2002 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-16120313

RESUMEN

Complex I is the first and largest enzyme of the oxidative phosphorylation system. It consists of at least 43 subunits. Recent studies have shown that the NDUFS4 subunit of complex I contributes to the activation of the complex through cAMP dependent phosphorylation of a conserved site (RVS) located at the C-terminal region of this protein. This report focuses on the NDUFS4 subunit. Summarized is the current knowledge of this subunit, from gene structure to function and pathology.

14.
FEBS Lett ; 489(2-3): 259-62, 2001 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-11165261

RESUMEN

Evidence is presented showing that in a patient with fatal neurological syndrome, the homozygous 5 bp duplication in the cDNA of the NDUFS4 18 kDa subunit of complex I abolishes cAMP-dependent phosphorylation of this protein and activation of the complex. These findings show for the first time that human complex I is regulated via phosphorylation of the subunit encoded by the NDUFS4 gene.


Asunto(s)
AMP Cíclico/fisiología , Enfermedad de Leigh/enzimología , NADH NADPH Oxidorreductasas/deficiencia , Secuencia de Aminoácidos , Células Cultivadas , Complejo I de Transporte de Electrón , Activación Enzimática , Resultado Fatal , Fibroblastos/citología , Fibroblastos/metabolismo , Humanos , Lactante , Enfermedad de Leigh/genética , Enfermedad de Leigh/patología , Masculino , Datos de Secuencia Molecular , Mutación , NADH NADPH Oxidorreductasas/genética , NADH NADPH Oxidorreductasas/metabolismo , Fosforilación , Subunidades de Proteína , Homología de Secuencia de Aminoácido
15.
Biochem Biophys Res Commun ; 275(1): 63-8, 2000 Aug 18.
Artículo en Inglés | MEDLINE | ID: mdl-10944442

RESUMEN

Combined OXPHOS-system enzyme deficiencies are observed in approximately 25% of all OXPHOS-system disturbances. Of these, combined complex I and III deficiency is relatively scarce. So far, only mtDNA and thymidine phosphorylase (TP) mutations have been associated with combined OXPHOS-system disturbances. In this report we show, for the first time, that a nuclear gene mutation in a structural, nuclear encoded complex I gene is associated with combined complex I and III deficiency. After our initial report we describe mutations in the NDUFS4 gene of complex I in two additional patients. The first mutation is a deletion of G at position 289 or 290. Amino acid 96 changes from a tryptophan to a stop codon. The mutation was found homozygous in the patient; both parents are heterozygous for the mutation. The second mutation is a transition from C to T at cDNA position 316. Codon is changed from CGA (arginine) to TGA (stop). The patient is homozygous for the mutation; both parents are heterozygous. Both mutations in the NDUFS4 gene led to a premature stop in Leigh-like patients with an early lethal phenotype. We hypothesise that the structural integrity of the OXPHOS system, in mammal supermolecular structures, may be responsible for the observed biochemical features.


Asunto(s)
Núcleo Celular/genética , Complejo III de Transporte de Electrones/deficiencia , Enfermedad de Leigh/enzimología , Enfermedad de Leigh/genética , Mitocondrias/enzimología , NADH NADPH Oxidorreductasas/deficiencia , Secuencia de Bases , Células Cultivadas , Codón de Terminación/genética , Consanguinidad , Análisis Mutacional de ADN , Cartilla de ADN , Complejo I de Transporte de Electrón , Complejo III de Transporte de Electrones/genética , Complejo III de Transporte de Electrones/metabolismo , Femenino , Fibroblastos , Genes Letales , Genotipo , Humanos , Lactante , Enfermedad de Leigh/patología , Masculino , Mitocondrias/patología , Músculo Esquelético/enzimología , Músculo Esquelético/patología , NADH NADPH Oxidorreductasas/genética , NADH NADPH Oxidorreductasas/metabolismo , Fosforilación Oxidativa , Mutación Puntual/genética , Polimorfismo de Longitud del Fragmento de Restricción
16.
Ann Neurol ; 45(6): 787-90, 1999 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-10360771

RESUMEN

Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome.


Asunto(s)
Enfermedad de Leigh/genética , Mutación/genética , NAD(P)H Deshidrogenasa (Quinona)/genética , Humanos , Lactante , Masculino
17.
Eval Rev ; 23(6): 579-98, 1999 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-10662070

RESUMEN

To understand how decisions are made in abuse/neglect cases by the child welfare system, the authors asked child welfare experts and protective service line workers to make decisions about actual child abuse and neglect cases on the basis of written summaries of the cases. Respondents included 27 experts and 103 line workers. Regression analyses found that workers and experts emphasized the same case characteristics in making their decisions, but the decisions were not well structured in the sense that they were not well predicted by case characteristics. Individual experts and workers varied widely in the decisions they made on identical cases. The authors conclude that decision making in the child protective system is inconsistent, with errors of two kinds: failing to remove children from their families when that is called for and removing children when it is unnecessary. Progress must be made in developing decision-making criteria that are consistent, preserve family integrity, and promote the well-being of children.


Asunto(s)
Maltrato a los Niños , Custodia del Niño , Toma de Decisiones , Servicio Social , Niño , Femenino , Humanos , Masculino , Reproducibilidad de los Resultados , Riesgo , Estados Unidos
18.
Eval Rev ; 23(6): 599-618, 1999 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-10662071

RESUMEN

Vignettes presented to experts and workers in the child welfare field were used to explore the degree of agreement on decisions to place children in substitute care or to refer them to family preservation services. The design allowed for investigation of the problem of targeting in family preservation programs. Findings indicate considerable inconsistency in decisions among experts and workers, particularly in decisions to refer to family preservation and other in-home services. Contrary to the stated intentions of family preservation services, a majority of the referrals to these programs do not involve children who would have been placed in the absence of these programs.


Asunto(s)
Maltrato a los Niños , Custodia del Niño , Toma de Decisiones , Servicio Social , Adulto , Niño , Femenino , Humanos , Illinois , Masculino , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados
19.
Neuroscience ; 75(2): 535-42, 1996 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-8931016

RESUMEN

The prefrontal cortex has often been implicated in the pathophysiology of schizophrenia. Schizophrenic patients are known to suffer from certain information processing deficits, which can be detected, among others, in the prepulse inhibition and the latent inhibition paradigm. The present study was designed to investigate the role of dopamine receptors in the medial prefrontal cortex in prepulse inhibition and latent inhibition. The results show that the local application of the selective antagonist of the dopamine D1-like receptor family, SCH 39166, into the medial prefrontal cortex dose-dependently reduced prepulse inhibition. Likewise, the selective antagonist of the dopamine D2-like receptor family, sulpiride, injected into the medial prefrontal cortex dose-dependently reduced prepulse inhibition. Neither of these antagonists, however, influenced latent inhibition as measured with the conditioned taste aversion paradigm. These data further indicate that the neuronal substrates of latent inhibition and prepulse inhibition are clearly different. Since the prefrontal cortex is intimately related to subcortical dopamine, the possible differential involvement of subcortical dopaminergic terminal fields in prepulse inhibition and latent inhibition is discussed.


Asunto(s)
Dopamina/fisiología , Corteza Prefrontal/fisiología , Reflejo de Sobresalto/fisiología , Animales , Reacción de Prevención/efectos de los fármacos , Benzazepinas/administración & dosificación , Benzazepinas/farmacología , Antagonistas de Dopamina/farmacología , Antagonistas de los Receptores de Dopamina D2 , Conducta de Ingestión de Líquido/efectos de los fármacos , Potenciales Evocados/fisiología , Inyecciones , Masculino , Corteza Prefrontal/efectos de los fármacos , Ratas , Ratas Wistar , Receptores de Dopamina D1/antagonistas & inhibidores , Reflejo de Sobresalto/efectos de los fármacos , Sulpirida/administración & dosificación , Sulpirida/farmacología , Transmisión Sináptica/efectos de los fármacos , Gusto/efectos de los fármacos
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