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1.
Eur J Orthop Surg Traumatol ; 33(7): 2951-2957, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36914883

RESUMO

PURPOSE: Reverse total shoulder arthroplasty (RSA) has revolutionized the management of proximal humerus fractures (PHF) in the elderly patients. There is few or no consensus regarding to management of postoperative rehabilitation in elderly patients. An early rehabilitation from D1 allowed better functional results compared to rehabilitation started to D30 independently from tuberosities consolidation. METHODS: 94 patients operated on for PHF were evaluated retrospectively, with a minimum radio-clinical follow-up of 2 years. Clinical evaluation included mobilities and four functional scores: ASES, quick DASH, gross constant, weighted constant. Radiological evaluation was performed on a frontal shoulder X-ray with evaluation of tuberosities' consolidation. RESULTS: The mean follow-up was 45 ± 19 months (24-88 months). Early rehabilitation was significantly associated with a better Constant Score (71.1 ± 17.2 vs. 56.4 ± 15.8; p < 0.001), better adjusted Constant score (92.4 ± 14.2 vs. 80.3 ± 19.5; p < 0.001), better quick DASH (22.8 ± 19.8 vs. 36.7 ± 21.3; p < 0.01), better ASES (78.6 ± 20.2 vs. 63 ± 22; p < 0.001). CONCLUSION: In traumatology, functional result of RSA seems not related in tuberosities' union but in rehabilitation in order to limit postoperative stiffness of operated shoulder. An early rehabilitation is related with better clinical and functional results, independently of tuberosities' union. LEVEL OF EVIDENCE: 3, control-case study.


Assuntos
Artroplastia do Ombro , Fraturas do Ombro , Articulação do Ombro , Prótese de Ombro , Humanos , Idoso , Ombro/cirurgia , Estudos Retrospectivos , Prótese de Ombro/efeitos adversos , Resultado do Tratamento , Artroplastia do Ombro/métodos , Articulação do Ombro/cirurgia , Fraturas do Ombro/cirurgia , Úmero/cirurgia , Amplitude de Movimento Articular
2.
J Microsc ; 282(1): 13-20, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33118633

RESUMO

Total hip arthroplasty uses commercial devices that combine different types of biomaterials. Among them, metals, ceramics and metal oxides can be used either in the prosthesis itself or in the cement used to anchor them in the bone. Over time, all of these materials can wear out and release particles that accumulate in the periprosthetic tissues or can migrate away. We used histology blocks from 15 patients (5 titanium metallosis, 5 alumina prostheses, 5 with altered methacrylic cement) to perform a microCT study and compare it with conventional histology data. An EDS-SEM analysis was done to characterise the atomic nature of the materials involved. A morphometric analysis was also performed in 3D to count the particles and assess their density and size. The metallic particles appeared to be the largest and the ceramic particles the finest. However, microCT could not reveal the wear particles of radiolucent biomaterials such as polyethylene and the very fine zirconia particles from cement fragmentation. MicroCT analysis can reveal the extent of the accumulation of these debris in the periprosthetic tissues. LAYOUT DESCRIPTION: Hip prostheses progressively degrade in the body by releasing wear debris. They accumulate in the periprosthetic tissues. Microcomputed tomography was used to image three types of radio-opaque wear debris: metal, ceramic and zirconia used in the bone cements.


Assuntos
Artroplastia de Quadril , Materiais Biocompatíveis/química , Prótese de Quadril , Polietilenos/química , Humanos , Microtomografia por Raio-X
3.
Morphologie ; 104(346): 187-195, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32312649

RESUMO

PURPOSE: The anatomy of the middle glenohumeral ligament (MGHL) is seldomly described during arthroscopy. The aim of this study was to determine the arthroscopic variants concerning the anatomy of the MGHL. METHODS: A prospective, observational, single-center study was conducted between June 2016 and June 2017. All patients undergoing a first-time arthroscopy of the shoulder and with no history of prior surgery or trauma of the same shoulder were consecutively enrolled. The variations of the MGHLs shape and of its glenoid and distal insertions were documented during surgery. RESULTS: A total 300 patients were included. Surgeries included rotator cuff sutures, tenotomy/tenodesis of the long head of the biceps tendon (LHBT) and subacromial decompression in respectively 31%, 32.7% and 35.5% of cases. The MGHL was absent in 12% of cases, presented a flat structure in 72% of cases, a cord-like shape in 14% and a Buford complex was observed in 1%. Its glenoid insertion was located on the labrum between the superior (SGHL) and inferior (IGHL) in 43% of cases, presented a combined insertion with the LHBT in 7%, with the SGHL in 29% and with both the SGHL and LHBT in 9%. The distal insertion was located in 67% of cases on the subscapularis tendon (SCCT) or the capsule covering it, and on the humeral bone in 21%. CONCLUSION: This study confirms and details the anatomic variants of the MGHL, notably describing the lesser-known variants of its distal insertion, yet arises the question of the exact nature and function of this so-called ligament.


Assuntos
Ligamentos Articulares , Articulação do Ombro , Artroscopia , Humanos , Ligamentos Articulares/anatomia & histologia , Estudos Prospectivos , Manguito Rotador , Articulação do Ombro/anatomia & histologia
4.
Calcif Tissue Int ; 105(5): 487-496, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31321456

RESUMO

Cross-linked hyaluronic acid (HyAR) increases the local concentration of growth factors. We compared ß-TCP osseointegration in old and young ewes with/without HyAR addition. A blind tunnel was drilled on the medial femoral condyle of each knee in nine young and nine old ewes and was filled with ß-TCP, ß-TCP + HyAR or left unfilled. Double labeling with calcein allowed histodynamic analysis. Ewes were sacrificed at 84 days and the knees were harvested. MicroCT provided histomorphometric parameters: trabecular bone volume, residual volume of biomaterial. Histodynamic parameters were: mineralization rate, mineralized surfaces, bone formation rate. A non-parametric ANOVA and post hoc test analyzed differences between subgroups. Osseointegration of ß-TCP was similar in the aged/young grafted groups. Trabecular bone volume was significantly increased versus ungrafted animals (p < 0.001). There were no significant difference for bone volume, residual volume of biomaterial and histodynamic parameters when a single parameter was considered but additional effects of ß-TCP and HyAR were evidenced by 3D analysis. Addition of HyAR to ß-TCP does not significantly increase bone volume but tends to increase histodynamic parameters. However, considering the reduction of osteoblastic activity in aged animals, ß-TCP, and HyAR boosts osteoblastic activity. HyAR leads to an equivalent response between young and old animals.


Assuntos
Regeneração Óssea/efeitos dos fármacos , Fosfatos de Cálcio/farmacologia , Ácido Hialurônico/farmacologia , Osseointegração/efeitos dos fármacos , Fatores Etários , Animais , Regeneração Óssea/fisiologia , Substitutos Ósseos/farmacologia , Feminino , Fêmur , Osseointegração/fisiologia , Osteogênese/efeitos dos fármacos , Ovinos
5.
Crit Rev Biotechnol ; 39(1): 1-19, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29793354

RESUMO

The primary objective of this review is to propose an approach for the biosynthesis of phylloquinone (vitamin K1) based upon its known sources, its role in photosynthesis and its biosynthetic pathway. The chemistry, health benefits, market, and industrial production of vitamin K are also summarized. Vitamin K compounds (K vitamers) are required for the normal function of at least 15 proteins involved in diverse physiological processes such as coagulation, tissue mineralization, inflammation, and neuroprotection. Vitamin K is essential for the prevention of Vitamin K Deficiency Bleeding (VKDB), especially in neonates. Increased vitamin K intake may also reduce the severity and/or risk of bone fracture, arterial calcification, inflammatory diseases, and cognitive decline. Consumers are increasingly favoring natural food and therapeutic products. However, the bulk of vitamin K products employed for both human and animal use are chemically synthesized. Biosynthesis of the menaquinones (vitamin K2) has been extensively researched. However, published research on the biotechnological production of phylloquinone is restricted to a handful of available articles and patents. We have found that microalgae are more suitable than plant cell cultures for the biosynthesis of phylloquinone. Many algae are richer in vitamin K1 than terrestrial plants, and algal cells are easier to manipulate. Vitamin K1 can be efficiently recovered from the biomass using supercritical carbon dioxide extraction.


Assuntos
Biotecnologia/métodos , Vitamina K 1/metabolismo , Vitamina K/biossíntese , Envelhecimento , Animais , Biomassa , Vias Biossintéticas , Coagulação Sanguínea , Fenômenos Químicos , Clorófitas/metabolismo , Humanos , Engenharia Metabólica , Plantas/metabolismo , Vitamina K/química , Vitamina K/fisiologia , Vitamina K 1/química , Vitamina K 1/farmacologia , Vitamina K 2/metabolismo , Sangramento por Deficiência de Vitamina K/tratamento farmacológico
6.
Morphologie ; 102(339): 231-242, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30348489

RESUMO

Metal implants are biomaterials widely used in orthopedics. They are both used in osteosynthesis and arthroplasty. Their mechanical properties, biocompatibility and resistance to corrosion make them a widely used option in orthopedics. Alloys are the most commonly used metals in orthopedics. As far as physical traumas are concerned, implants such as screws, plates and/or nails are used for osteosynthesis as they ensure the stability of the fractured area and contribute to bone healing. Prostheses are used in arthroplasty to restore joint function for as long as possible. Contact between bone and the prosthesis induces bone remodeling at the interface between metal and bone even if the metal is recognized as biocompatible. Upon time, the interface between the metal implant and the bony tissue is continuously modified and adapted. Hip prosthesis is a typical example of intraosseous metal implant whose bone/implant interface has been extensively studied. Metal can be altered in vivo by different mechanisms including corrosion and fretting. An altered torque friction leads to wear debris that accumulate in the peri-prosthetic tissues causing metallosis.


Assuntos
Ligas/efeitos adversos , Artroplastia/instrumentação , Materiais Biocompatíveis/efeitos adversos , Fixação Interna de Fraturas/instrumentação , Fixadores Internos/efeitos adversos , Artroplastia/efeitos adversos , Corrosão , Fixação Interna de Fraturas/efeitos adversos , Falha de Prótese
7.
Orthop Traumatol Surg Res ; 103(7): 1131-1136, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28645704

RESUMO

Reconstruction of large diaphyseal bone defect is complex and the complications rate is high. This study aimed to assess a simplified technique of segmental bone transport by monorail external fixator over an intramedullary nail.A prospective study included 7 patients: 2 femoral and 5 tibial defects. Mean age was 31years (range: 16-61years). Mean follow-up was 62 months (range: 46-84months). Defects were post-traumatic, with a mean length of 7.2cm (range: 4 to 9.5cm). For 3 patients, reconstruction followed primary failure. In 4 cases, a covering flap was necessary. Transport used an external fixator guided by an intramedullary nail, at a rate of 1mm per day. One pin was implanted on either side of the distraction zone. The external fixator was removed 1 month after bone contact at the docking site. Mean bone transport time was 11 weeks (range: 7-15 weeks). Mean external fixation time was 5.1months (range: 3.5 to 8months). Full weight-bearing was allowed 5.7months (range: 3.5-13months) after initiation of transport. In one patient, a pin had to be repositioned. In 3 patients, the transported segment re-ascended after external fixatorablation, requiring repeat external fixation and resumption of transport. There was just 1 case of superficial pin infection. Reconstruction quality was considered "excellent" on the Paley-Marr criteria in 6 cases. The present technique provided excellent reconstruction quality in 6 of the 7 cases. External fixation time was shorter and resumption of weight-bearing earlier than with other reconstruction techniques, notably including bone autograft, vascularized bone graft or the induced membrane technique. Nailing facilitated control of limb axis and length. The complications rate was 50%, comparable to other techniques. This study raises the question of systematic internal fixation of the docking site, to avoid any mobilization of the transported segment. The bone quality, axial control and rapidity shown by the present technique make it well-adapted to reconstruction of diaphyseal bone defect. LEVEL OF EVIDENCE: Four-case series.


Assuntos
Pinos Ortopédicos , Fixadores Externos , Fêmur/lesões , Retalhos de Tecido Biológico/transplante , Procedimentos Ortopédicos/métodos , Tíbia/lesões , Adolescente , Adulto , Transplante Ósseo , Diáfises/lesões , Diáfises/cirurgia , Feminino , Fêmur/cirurgia , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Ortopédicos/instrumentação , Estudos Prospectivos , Reoperação , Tíbia/cirurgia , Resultado do Tratamento , Adulto Jovem
8.
Orthop Traumatol Surg Res ; 103(2): 315-318, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28153481

RESUMO

Fractures of the head or neck of the radius account for 5% of elbow fractures in adults. Treatment varies between authors. We report a retrospective series of 12 cases of percutaneous reduction of Mason II radial head fracture, without internal fixation. All fractures consolidated, without secondary displacement. There were no postoperative complications. Mean ranges of motion were 136° flexion-extension and 175° pronation-supination. Mean QuickDASH score was 11. Results in the present series were at least comparable to those for other techniques, validating percutaneous treatment as a solution for radial head fracture. TYPE OF STUDY: Case series. LEVEL OF EVIDENCE: IV.


Assuntos
Articulação do Cotovelo/fisiopatologia , Redução Aberta/métodos , Fraturas do Rádio/cirurgia , Adulto , Idoso , Articulação do Cotovelo/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pronação , Amplitude de Movimento Articular , Estudos Retrospectivos , Supinação , Resultado do Tratamento , Adulto Jovem
9.
Morphologie ; 100(329): 95-105, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26762722

RESUMO

Several decades ago, aluminum encephalopathy associated with osteomalacia has been recognized as the major complication of chronic renal failure in dialyzed patients. Removal of aluminum from the dialysate has led to a disappearance of the disease. However, aluminum deposit occurs in the hydroxyapatite of the bone matrix in some clinical circumstances that are presented in this review. We have encountered aluminum in bone in patients with an increased intestinal permeability (coeliac disease), or in the case of prolonged administration of aluminum anti-acid drugs. A colocalisation of aluminum with iron was also noted in cases of hemochromatosis and sickle cell anemia. Aluminium was also identified in a series of patients with exostosis, a frequent benign bone tumor. Corrosion of prosthetic implants composed of grade V titanium (TA6V is an alloy containing 6% aluminum and 4% vanadium) was also observed in a series of hip or knee revisions. Aluminum can be identified in undecalcified bone matrix stained by solochrome azurine, a highly specific stain allowing the detection of 0.03 atomic %. Colocalization of aluminum and iron does not seem to be the fruit of chance but the cellular and molecular mechanisms are still poorly understood. Histochemistry is superior to spectroscopic analyses (EDS and WDS in scanning electron microscopy).


Assuntos
Compostos de Alumínio/toxicidade , Alumínio/toxicidade , Matriz Óssea/efeitos dos fármacos , Exostose/induzido quimicamente , Ferro/metabolismo , Osteomalacia/induzido quimicamente , Alumínio/química , Alumínio/farmacologia , Compostos de Alumínio/química , Compostos de Alumínio/farmacologia , Antiácidos/efeitos adversos , Antiácidos/química , Materiais Biocompatíveis/efeitos adversos , Materiais Biocompatíveis/química , Matriz Óssea/química , Matriz Óssea/patologia , Matriz Óssea/ultraestrutura , Remodelação Óssea/efeitos dos fármacos , Encefalopatias/induzido quimicamente , Calcificação Fisiológica/efeitos dos fármacos , Cálcio/metabolismo , Doença Celíaca/complicações , Corantes , Hemocromatose/metabolismo , Humanos , Rim/efeitos dos fármacos , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Próteses e Implantes/efeitos adversos , Diálise Renal/efeitos adversos , Coloração e Rotulagem
10.
Eur J Paediatr Neurol ; 20(1): 53-60, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26610677

RESUMO

OBJECTIVE AND PATIENTS: We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity. Patient 1 had also intractable seizures. A treatment with oral l-serine was started at age 4.5 years and 3 months respectively. RESULTS: Serine levels were low in plasma and CSF relative to the reference population, for which we confirm recently redefined intervals based on a larger number of samples. l-Serine treatment led in patient 1 to a significant reduction of seizures after one week of treatment and decrease of electroencephalographic abnormalities within one year. In patient 2 treatment with l-serine led to an improvement of spasticity. However for both patients, l-serine failed to improve substantially head circumference (HC) and neurocognitive development. In a couple related to patient's 2 family, dosage of serine was performed on fetal cord blood when the fetus presented severe microcephaly, showing reduced serine levels at 30 weeks of pregnancy. CONCLUSIONS: l-Serine treatment in patients with 2 different serine synthesis defects, led to a significant reduction of seizures and an improvement of spasticity, but failed to improve substantially neurocognitive impairment. Therefore, CSF and plasma serine levels should be measured in all cases of severe microcephaly at birth to screen for serine deficiency, as prompt treatment with l-serine may significantly impact the outcome of the disease. Reduced serine levels in fetal cord blood may also be diagnostic as early as 30 weeks of pregnancy.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/tratamento farmacológico , Erros Inatos do Metabolismo dos Carboidratos/tratamento farmacológico , Microcefalia/tratamento farmacológico , Fosfoglicerato Desidrogenase/deficiência , Transtornos Psicomotores/tratamento farmacológico , Convulsões/tratamento farmacológico , Serina/deficiência , Serina/uso terapêutico , Transaminases/deficiência , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/genética , Aminoácidos/líquido cefalorraquidiano , Erros Inatos do Metabolismo dos Carboidratos/genética , Pré-Escolar , Transtornos Cognitivos/tratamento farmacológico , Transtornos Cognitivos/etiologia , Epilepsia Resistente a Medicamentos/etiologia , Eletroencefalografia , Feminino , Cabeça/crescimento & desenvolvimento , Humanos , Lactente , Recém-Nascido , Masculino , Microcefalia/etiologia , Microcefalia/genética , Espasticidade Muscular/etiologia , Fosfoglicerato Desidrogenase/genética , Gravidez , Transtornos Psicomotores/genética , Convulsões/etiologia , Convulsões/genética , Serina/sangue , Transaminases/genética , Resultado do Tratamento
11.
Orthop Traumatol Surg Res ; 101(4 Suppl): S211-5, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25890813

RESUMO

Fractures of the coronoid process, which is a key element in anterior elbow joint stability, represent 14% of proximal ulnar fractures. Optimal treatment should stabilize all fractures associated with elbow instability. Different techniques have been described: suture repair, screws, plates… We propose a series of 5 patients who were treated with an original, easy, tension band wiring fixation technique using steel wire with easy hardware removal.


Assuntos
Fios Ortopédicos , Articulação do Cotovelo/cirurgia , Fixação Interna de Fraturas/métodos , Fraturas da Ulna/cirurgia , Adulto , Feminino , Seguimentos , Fixação Interna de Fraturas/instrumentação , Consolidação da Fratura , Humanos , Masculino , Pessoa de Meia-Idade , Amplitude de Movimento Articular
12.
Orthop Traumatol Surg Res ; 100(7): 711-4, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25224280

RESUMO

INTRODUCTION: The main complication of reverse shoulder arthroplasty is the development of notches in the scapular pillar, which occurs in 44% to 100% of cases. Furthermore the functional score has been shown to be poorer in patients with high-grade notches. Many options have been proposed to reduce this risk. The purpose of this study was to evaluate the predictive factors of the development of scapular notches. MATERIALS AND METHODS: We retrospectively evaluated 133 shoulders in 121 patients with reverse shoulder arthroplasty. We performed a radiographic assessment of the effect of positioning the glenoid component with inferior overhang of the glenosphere and the glenometaphyseal angle. All patients were reviewed after 2years follow-up, including a clinical assessment based on the Constant score and X-rays to assess the presence of notches. RESULTS: Nineteen complications were reported, and 14 required revision surgery. We excluded patients in whom prosthetic components were changed. The quality of the X-rays was not satisfactory enough to be analyzed in over 15 patients so they were excluded. One hundred five patients were reviewed. At 2years follow-up, 50.4% of shoulders presented with notches. The Constant score was 69.3 points (54-83) in shoulders without notches, and 66.4 points (38-82) in shoulders with notches. The average glenosphere overhang was 3.5mm (-1 - 8mm). Notches were present in 65.5% if it was less than 3mm and 39.6% if it was more than 2mm (P<0. 05). The average glenometaphyseal angle was 27.3° (4-59°), and notches developed in 72.2% if it was more than 28° and 26.5% if it was less than 28° (P<0.05). CONCLUSION: The position of the metaglene influences the development of notches. The risk decreases if the glenosphere overhangs the glenoid. The degree of adduction of the arm influences the development of notches and can be correlated with the patient's BMI. LEVEL OF EVIDENCE: Level IV retrospective study.


Assuntos
Artroplastia de Substituição/efeitos adversos , Complicações Pós-Operatórias/diagnóstico por imagem , Escápula/diagnóstico por imagem , Articulação do Ombro/cirurgia , Idoso , Idoso de 80 Anos ou mais , Artroplastia de Substituição/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Radiografia , Estudos Retrospectivos , Ombro , Articulação do Ombro/diagnóstico por imagem
13.
J Thromb Haemost ; 12(7): 1170-81, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24606340

RESUMO

BACKGROUND: Endothelial colony-forming cells (ECFCs) represent a subpopulation of circulating endothelial progenitor cells that have been implicated in vascular repair. However, no study has evaluated the role of ECFCs in endothelial injury leading to thrombus formation. OBJECTIVE: We investigated the kinetics, mechanisms and role of ECFC recruitment in the dynamics of thrombus formation and stabilization. METHODS AND RESULTS: Using digital intravital microscopy in living mice, we show that ECFCs, but not mature endothelial cells, adhere to sites of laser-induced injury and do not affect the kinetics of thrombus formation. This interaction occurs once the platelet thrombus has been stabilized, and is dependent on the presence of neutrophils but not platelets or fibrin. In vitro, the interaction of the activated neutrophils with activated endothelial cells is a prerequisite for the capture of ECFCs. Neutrophils activate ECFCs and increase their angiogenic properties, such as their ability to migrate and to form pseudocapillaries. This newly identified interaction of ECFCs with the neutrophils is mediated by the P-selectin glycoprotein ligand-1 (PSGL-1)/L-selectin axis both in vitro and in vivo. CONCLUSIONS: This study is the first demonstration that neutrophils present at the site of injury recruit ECFCs via PSGL-1/L-selectin. This interaction between neutrophils and ECFCs could play a key role in the regeneration of injured vessels in pathophysiologic conditions.


Assuntos
Endotélio Vascular/citologia , Endotélio/metabolismo , Selectina L/metabolismo , Glicoproteínas de Membrana/metabolismo , Neutrófilos/metabolismo , Células-Tronco/citologia , Animais , Plaquetas/citologia , Adesão Celular , Células Endoteliais/citologia , Sangue Fetal/citologia , Fibrina/metabolismo , Citometria de Fluxo , Humanos , Lasers , Leucócitos Mononucleares/citologia , Camundongos , Camundongos Endogâmicos C57BL , Microscopia , RNA Interferente Pequeno/metabolismo , Trombose/patologia , Cicatrização
14.
JIMD Rep ; 3: 25-32, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23430870

RESUMO

BACKGROUND: Aromatic amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder resulting in a combined dopamine and serotonin deficiency. About 50% of the cases set in the neonatal period. Here, we report an atypical clinical presentation with moderate symptoms. PATIENT: At 10months old, the patient presented paroxysmal eye movements without seizures, and feeding difficulties which were attributed to gastroesophageal reflux. She was investigated at the age of 7years, because of orofacial dyspraxia, hypomimie, axial hypotonia and focal segmental dystonia, bilateral ptosis, without evidence for cognitive impairment. RESULTS: HVA [110nM; (reference value (rv): 202-596)] and HIAA (12nM; rv: 87-366) decreased, OMD (520nM; rv: 5-60) and 5-HTP (56nM; rv: 2-16) increased in CSF. We confirmed the diagnosis of AADC deficiency because the activity in plasma was low: 4pmol/min/ml; rv: 16-137. The kinetic analysis revealed a sixfold increase in the apparent affinity for L-dopa (4.26mM; control=0.71), but the V (max) was unchanged (37.5pmol dopamine/min/ml; control=39.1), suggesting a modification in the substrate binding-site. Molecular analysis revealed two heterozygous mutations in the DDC gene: c1040G > A; pR347Q already described, and a novel mutation c478C > T, pR160W. CONCLUSION: (1) CSF neurotransmitters metabolites suggested a moderate AADC deficiency; (2) The initial velocity saturation curve for L-dopa displayed a cooperative ligand binding behavior, in keeping with the modifications of the three-dimensional structure, induced by the amino acid substitutions (3) The treatment combination of L-dopa with pyridoxine dramatically improved the quality of life, the fatigability, and the paroxysmal eye movements.

15.
Orthop Traumatol Surg Res ; 97(8 Suppl): S167-81, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22036993

RESUMO

INTRODUCTION: Stiffness in the shoulder is a frequent symptom associated with a number of clinical entities whose management remains inadequately defined. PATIENTS AND METHODS: This prospective study of 235 cases of stiffness in the shoulder compared six therapeutic techniques with a mean follow-up of 13 months (range, 3-28 months) (T1: 58 cases, conventional rehabilitation under the pain threshold, T2: 59 cases, self-rehabilitation over the pain threshold, T3: 31 cases, T2 + supervision, T4: 11 cases, T1 + capsular distension, T5: 31 cases, T1 + locoregional anesthesia, T6: 45 cases, T1 + T5 + capsulotomy). The therapeutic power of each technique and its impact on the result were assessed at each self-rehabilitation and rehabilitation session during the first 6 weeks and then at 3 months, 6 months, and at the final revision depending on subjective criteria (pain, discomfort, and morale) and objective criteria (Constant score, goniometric measurements). RESULTS: Conventional rehabilitation (T1) is less effective than self-rehabilitation over the pain threshold (T2 & T3) during the first 6 weeks (P<0.05). Self-rehabilitation stagnates between the 6th and 12th week except when it is supervised by a therapist (T3). Anesthesia (T4) and capsular distension (T5) do not lead to significantly different progression beyond 6 months. Capsulotomy does not demonstrate greater therapeutic power but its failure rate (persisting stiffness at 1 year) is 0% versus 14-17% for the other techniques (P<0.05). DISCUSSION: The techniques are complementary and therapeutic success stems from an algorithm adapted to the individual patient with, over the first 3 months, successive self-rehabilitation and conventional rehabilitation, possibly completed by capsular distension or anesthesia between the 3rd and 6th months. In case of failure at 6 months, endoscopic capsulotomy can be proposed. Therapeutic patient education and active participation are the key to treatment success or failure.


Assuntos
Artropatias/terapia , Procedimentos Ortopédicos/métodos , Articulação do Ombro/cirurgia , Adolescente , Adulto , Idoso , Feminino , Seguimentos , Humanos , Cápsula Articular/cirurgia , Artropatias/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Amplitude de Movimento Articular , Articulação do Ombro/fisiopatologia , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
16.
J Med Philos ; 36(4): 335-41, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21890809

RESUMO

Medicine is unique in being a combination of natural science and human science in which both are essential. Therefore, in order to make sense of medical practice, we need to begin by drawing a clear distinction between the natural and the human sciences. In this paper, I try to bring the old distinction between the Geistes and Naturwissenschaften up to date by defending the essential difference between a realist explanatory theoretical study of nature including the body in which the scientist discovers the causal properties of natural kinds and the interpretive understanding of human beings as embodied agents which, as Charles Taylor has convincingly argued, requires a hermeneutic account of self-interpreting human practices.


Assuntos
Medicina , Ciência , Ciências Sociais , Humanos , Filosofia Médica , Pesquisa
17.
Haematologica ; 96(7): 972-9, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21459795

RESUMO

UNLABELLED: Background Allogeneic hematopoietic cell transplantation is considered the preferred post-remission therapy in patients with acute myeloid leukemia cytogenetically defined as being at high risk. To substantiate evidence for allogeneic hematopoietic cell transplantation in first complete remission in these high-risk patients we performed a landmark analysis within a single prospective multicenter treatment trial. DESIGN AND METHODS: By the time of analysis, 2,347 patients had been accrued into the AMLCG 99 trial between 1999 - 2007. Out of this population, 243 patients under 60 years old fulfilled the criteria for high-risk cytogenetics. Landmark analyses were performed with a control cohort, who remained in first complete remission at least the median time from complete remission to transplantation in the intervention group. RESULTS: After standardized induction therapy, 111 patients under 60 years old achieved complete remission. A matched allogeneic donor was identified for 59 patients (30 sibling donors, 29 unrelated donors). Fifty-five patients received an allogeneic hematopoietic cell transplant after a median time of 88 days in first complete remission. Of the remaining 56 patients, 21 relapsed within 90 days after achieving first complete remission and for 7 patients with relevant comorbidities no donors search was initiated, leaving 28 patients given conventional post-remission therapy as the control cohort. The median follow-up of surviving patients was 60.4 months. Patients with an allogeneic donor had substantially better 5-year overall and relapse-free survival rates than the control group (48% versus 18%, P=0.004 and 39% versus 10%, P<0.001, respectively). A survival benefit from transplantation was evident regardless of donor type, age and monosomal karyotype. Conclusions Beyond evidence available for subgroups of high-risk patients, the findings of this study establish in a broader manner that allogeneic hematopoietic cell transplantation is a preferable consolidation treatment for patients with acute myeloid leukemia and high-risk cytogenetics. The study was registered at Clinicaltrials.gov as NCT00266136.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/terapia , Adulto , Citogenética , Feminino , Humanos , Leucemia Mieloide Aguda/mortalidade , Masculino , Pessoa de Meia-Idade , Monossomia/genética , Terapia Neoadjuvante , Recidiva , Indução de Remissão , Análise de Sobrevida , Transplante Homólogo , Resultado do Tratamento , Adulto Jovem
19.
Injury ; 41(12): 1262-5, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20621293

RESUMO

INTRODUCTION: Plating with bone grafting is considered the gold standard treatment for nonunion of humeral shaft fractures. However, this complex procedure involves multiple risks. The aim of this study is to evaluate an alternative treatment using isolated axial interfragmentary compression for the dynamisation of humeral shaft nonunion after retrograde locked nailing. MATERIALS AND METHODS: Between January 2000 and May 2009, 124 humeral shaft fractures were treated in our trauma department with retrograde locked nailing using the unreamed humeral nail (UHN(®), Synthes, Paoli, PA, USA). Nonunion occurred in seven patients (5.6%) - five females and two males, mean age 44 years (range: 17-73 years). The nonunion was treated by applying isolated secondary interfragmentary compression. Mean follow-up was 43 months (range: 8-74 months). The Rommens score and the disabilities of the arm, shoulder and hand (DASH) score were used to evaluate the global functioning of the upper limb. RESULTS: The compression procedure was successful in all seven cases. In each case, the union occurred without any complications in 3-5 months. The mean DASH score was 25/100 (range: 8.3-60.8/100). The Rommens score was judged excellent for five of the seven patients but two were rated moderate. One of these suffered from complex regional pain syndrome type II since the fracture, and another developed a stiff shoulder 6 months after trauma. CONCLUSION: Isolated secondary interfragmentary compression appears to be a simple and successful procedure in cases of humeral nonunion.


Assuntos
Transplante Ósseo/métodos , Fixação Intramedular de Fraturas/métodos , Fraturas não Consolidadas/cirurgia , Fraturas do Úmero/cirurgia , Adolescente , Adulto , Idoso , Fenômenos Biomecânicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Adulto Jovem
20.
Mar Pollut Bull ; 60(1): 79-90, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19786285

RESUMO

The majority of studies relating to impacts and recovery at dredgings disposal sites have concentrated on areas subject to regular and frequent disposals of maintenance dredgings over relatively long time periods. In comparison less is known regarding the significance of impacts and the recovery processes associated with the disposal of capital dredgings that commonly involves the infrequent deposition of heterogenous material over relatively restricted time periods. Impacts and recovery processes are likely to be different to those associated with the disposal of maintenance dredgings. For example, findings suggest that capital dredgings deposited at both the Roughs Tower and Barrow-in-Furness result in the occurrence of persistent changes to seafloor substrata within the license area and this subsequently effects the composition of associated faunal communities present. Moreover, whilst the two disposal sites are geographically distinct similar species are identified as being particularly sensitive to capital disposal activities in both areas.


Assuntos
Conservação dos Recursos Naturais , Meio Ambiente , Monitoramento Ambiental/legislação & jurisprudência , Poluentes Ambientais/toxicidade , Invertebrados/efeitos dos fármacos , Licenciamento/legislação & jurisprudência , Eliminação de Resíduos/legislação & jurisprudência , Animais , Monitoramento Ambiental/métodos , Geografia , Invertebrados/fisiologia , Licenciamento/tendências , Eliminação de Resíduos/métodos , Fatores de Tempo , Reino Unido
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