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2.
Eur Ann Otorhinolaryngol Head Neck Dis ; 137(1): 59-60, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31178429

RESUMO

INTRODUCTION: Robotic thyroidectomy (RT) has been reported to achieve satisfactory results. However, its long-term oncological results have not been validated. The use of RT to treat thyroid cancer comprises specific risks that are not encountered with open thyroidectomy (OT). CASE SUMMARY: We report the case of a patient operated by two-stage RT for stage pT3a follicular carcinoma, followed by tumour seeding along the incision despite adjuvant Iodine-131 therapy and external beam radiotherapy. DISCUSSION: This case illustrates the limitations and insufficient perspective of RT for thyroid cancer, with the recent discovery of a risk of tumour seeding along the incision. Rigorous patient selection should help to avoid this risk of tumour seeding.


Assuntos
Adenocarcinoma Folicular/cirurgia , Procedimentos Cirúrgicos Robóticos , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/métodos , Axila , Feminino , Humanos , Masculino , Procedimentos Cirúrgicos Robóticos/métodos
3.
Prog Urol ; 27(17): 1091-1097, 2017 Dec.
Artigo em Francês | MEDLINE | ID: mdl-28964687

RESUMO

OBJECTIVE: Treatment with transcutaneous posterior tibial neurostimulation (NTPT) has been shown to be effective in the treatment of overactive bladder (OAB), but its outcomes in diabetic patients have never been assessed. The aim of this study was to compare the efficacy of NTPT in diabetic OAB patients and in OAB patients without diabetes. METHODS: A single-center prospective study included all patients treated with NTPT for lower urinary tract storage symptoms between 2012 and 2016. The primary endpoint was symptoms improvement≥50% assessed using a Visual Analog Scale (VAS) two months after starting NTPT. Treatment consisted in a daily 20-minute NTPT single-session. The secondary endpoints were lower urinary tract symptoms reported by bladder diary, the Urinary Symptom Profile, the impact on mood and on daily activities. RESULTS: Seventy-one patients were included, 10 of whom were diabetic. The efficacy rate (EVA>50%) was not significantly different in the diabetic group (70% vs. 44.1%, P=0.17), like the mean EVA efficacy was similar in both groups (4/10 vs. 4/10, P=0.98). OAB USP sub-score diminished significantly in both groups at 2 months (-3 points in the diabetic group; -1.9 points in the non-diabetic group; P=0.03 and P<0.0001, respectively). There was no significant difference between the groups, except for the rate of patients who stopped treatment at 6 months, higher in diabetic patients (100% vs. 63.5%, P=0.04). CONCLUSION: The functional outcomes of NTPT appear to be similar in the treatment of OAB in diabetic patients and in non-diabetic patients. LEVEL OF EVIDENCE: 4.


Assuntos
Complicações do Diabetes/terapia , Nervo Tibial , Estimulação Elétrica Nervosa Transcutânea , Bexiga Urinária Hiperativa/terapia , Idoso , Complicações do Diabetes/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Bexiga Urinária Hiperativa/etiologia
4.
Vet Comp Oncol ; 15(4): 1513-1526, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28150446

RESUMO

The modified Glasgow Prognostic Score (mGPS) assigns a numerical value (0-2) from pre-treatment serum concentrations of C-reactive protein (CRP) and albumin to predict patient outcome. CRP and albumin were evaluated in 77 untreated dogs with lymphoma to determine the relationship of mGPS to clinicopathological parameters and whether it could predict progression-free (PFS) and overall survival (OS) in treated dogs. mGPS distribution was significantly associated with clinical stage, substage b, weight loss, gastrointestinal disturbances and lethargy at presentation. On univariate analysis, mGPS was significantly associated with OS and PFS, with shorter median survival times for mGPS 2 compared to mGPS 0 and 1 combined. Hypoalbuminaemia significantly reduced OS and PFS, however increased CRP had no effect. Only clinical stage was significantly associated with OS and PFS on both univariate and multivariate analysis. mGPS has potential prognostic value for canine lymphoma , but further studies are needed.


Assuntos
Doenças do Cão/diagnóstico , Linfoma/veterinária , Animais , Proteína C-Reativa/análise , Doenças do Cão/mortalidade , Doenças do Cão/patologia , Cães , Feminino , Linfoma/diagnóstico , Linfoma/mortalidade , Linfoma/patologia , Masculino , Prognóstico , Índice de Gravidade de Doença
5.
J Small Anim Pract ; 57(11): 600-609, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27709617

RESUMO

OBJECTIVES: To perform a preliminary study to assess whether single-agent palliative or adjuvant chemotherapy has an impact on objectively measured physical activity in dogs. METHODS: Fifteen dogs with neoplasia (treatment group) wore ActiGraph™ accelerometers for 5-day periods before, during and after receiving single-agent adjuvant or palliative chemotherapy. Mean 5-day total physical activity and time spent in three different intensities of activity (sedentary, light-moderate and vigorous) before, during and after receiving chemotherapy were compared to a group of 15 healthy dogs (control group). Results were also compared within the treatment group across time. RESULTS: Prior to chemotherapy, treated dogs tended to be less active than control dogs. Treatment group dogs were slightly more active at restaging than they were prior to treatment but had similar activity levels to control dogs. Marked effects of chemotherapy on physical activity were not detected. Physical activity was slightly lower in treated dogs during chemotherapy when compared to control dogs but there was a slight increase in physical activity of treated dogs during chemotherapy when compared with pretreatment recordings. There was little change in the mean 5-day total physical activity between treated dogs during chemotherapy and at restaging but a mild decrease in time spent sedentary and increase in time spent in light-moderate activity at this comparison of time points. CLINICAL SIGNIFICANCE: Single-agent adjuvant or palliative chemotherapy had minimal impact on physical activity levels in dogs with neoplasia.


Assuntos
Doenças do Cão/fisiopatologia , Neoplasias/veterinária , Condicionamento Físico Animal , Qualidade de Vida , Acelerometria/veterinária , Animais , Antineoplásicos/uso terapêutico , Estudos de Casos e Controles , Doenças do Cão/tratamento farmacológico , Cães , Feminino , Masculino , Neoplasias/tratamento farmacológico , Neoplasias/fisiopatologia , Estudos Prospectivos
6.
Prog Urol ; 26(4): 245-53, 2016 Mar.
Artigo em Francês | MEDLINE | ID: mdl-26452712

RESUMO

OBJECTIVES: Specify urinary functional impairment associated with diabetic pathology. Propose guidance for screening, monitoring of clinical signs of lower urinary tract (LUTS) and describe the specifics of the urological treatment of patients. METHODS: A review of literature using PubMed library was performed using the following keywords alone or in combination: "diabetes mellitus", "diabetic cystopathy", "overactive bladder", "bladder dysfunction", "urodynamics", "nocturia". RESULTS: LUTS are more common in the diabetic population with an estimated prevalence between 37 and 70 %, and are probably underevaluated in routine practice. They are heterogeneous and are frequently associated with other diabetic complications. Both storage and voiding symptoms can coexist. Despite a major evaluation in the literature, no recommendation supervises the assessment and management of LUTS in this specific population. An annual screening including medical history, bladder and kidney ultrasound and post-void residual measurement is required in the follow-up of diabetic patients. Specific urologial referral and urodynamic investigations will be performed according to the findings of first-line investigations. The type of bladder dysfunction, the risk of urinary tract infections and dysautonomia should be considered in the specific urological management of these patients. CONCLUSION: Diabetes mellitus significantly impacts on the lower urinary tract function. A screening of LUTS is required as well as other complications of diabetes. The management of LUTS must take into consideration the specific risks of the diabetic patient regarding the loss of bladder contractility, the possibility of dysautonomia and infectious complications.


Assuntos
Complicações do Diabetes/complicações , Sintomas do Trato Urinário Inferior/etiologia , Doenças da Bexiga Urinária/etiologia , Algoritmos , Complicações do Diabetes/diagnóstico , Complicações do Diabetes/terapia , Humanos , Sintomas do Trato Urinário Inferior/diagnóstico , Sintomas do Trato Urinário Inferior/terapia , Doenças da Bexiga Urinária/diagnóstico , Doenças da Bexiga Urinária/terapia
7.
J Plast Reconstr Aesthet Surg ; 67(2): 178-82, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24200704

RESUMO

Facial palsy is often characterised by a severe dysfunction of the eyelids, leading to corneal ulceration and even blindness. A precise evaluation of the exposed ocular surface is very important in order to estimate the risks of these ocular symptoms. In the literature, most authors use a comparison between the heights of lagophthalmus and corneal exposure in the pre- and postoperative situations to evaluate the surgical correction of the eyelids in facial paralysis. The heights are not representative of the real exposed surfaces. We propose another method to evaluate these surfaces, using a computer-assisted design (CAD) software analysing standardised photographs and giving a precise assessment of the surface of the eye not covered by the eyelids. The exposed surface is more representative of the risks of ocular symptoms than the height. Our goal in this study was to improve the quality of the measurements, which allows to get a better estimation of the clinical situation and provides a tool that permits comparison of results between different surgical approaches.


Assuntos
Doenças Palpebrais/fisiopatologia , Paralisia Facial/fisiopatologia , Processamento de Imagem Assistida por Computador/métodos , Software , Desenho Assistido por Computador , Olho , Doenças Palpebrais/etiologia , Doenças Palpebrais/cirurgia , Paralisia Facial/complicações , Paralisia Facial/cirurgia , Humanos , Fotografação
8.
Rev Med Brux ; 34(4): 287-90, 2013 Sep.
Artigo em Francês | MEDLINE | ID: mdl-24195242

RESUMO

The use of aesthetic medicine and surgery is increasingly popular, and becomes a true phenomenon of society. Many women and men are asking for such treatments. A large proportion of the population carry the idea that this branch of medicine is a true consumer product. The acts of aesthetic medicine and surgery are not without consequences. They produce important changes in the human body, and carry risks of complications that must be taken into account. The overrated media interest of this subject produce commercial drifts that act against the general health of the patients. The invasive acts of medical aesthetics must be placed in a precise legal and ethical framework to protect the patients. A project of a new Belgian law is on the way, awaiting for publication in "Le Moniteur": this law (proposed by Senator Dominique Tilmans) clarifies the competences required for performing non-surgical aesthetic treatments and specific aesthetic invasive treatments. Other projects of law are being studied, and will concern publicity, information of the public, and rules of private clinics where aesthetic invasive acts are performed. Recent international news have shown, with the PIP breast prosthesis scandal, that surveillance of the medical aesthetic field is mandatory. To provide a better protection of patients, the legislator has decided legislate over the subject.


Assuntos
Ética Médica , Cirurgia Plástica/ética , Instituições de Assistência Ambulatorial/ética , Instituições de Assistência Ambulatorial/legislação & jurisprudência , Feminino , Humanos , Legislação Médica/tendências , Masculino , Cirurgia Plástica/legislação & jurisprudência
9.
Eur J Med Genet ; 56(9): 502-5, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23832107

RESUMO

Discordant chromosomal anomalies in monozygotic twins may be caused by various timing issues of erroneous mitosis and twinning events. Here, we report a prenatal diagnosis of heterokaryotypic monozygotic twins discordant for phenotype. In a 28-year-old woman, ultrasound examination performed at 26 weeks of gestation, detected intrauterine growth restriction and unilateral cleft lip and palate in twin B, whereas twin A had normal fluid, growth and anatomy. Molecular karyotyping in twin B identified a 18q21.2qter deletion, further confirmed by FISH analysis on amniocytes. Interestingly, in twin A, cytogenetic studies (FISH analysis and karyotype) on amniocytes were normal. Genotyping with microsatellite markers confirmed the monozygosity of the twins. At 32 weeks of gestation, selective termination of twin B was performed by umbilical cord coagulation and fetal blood samples were taken from the umbilical cord in both twins. FISH analyses detected mosaicism in both twins with 75% of cells being normal and 25% harboring the 18qter deletion. After genetic counseling, the parents elected to terminate the second twin at 36 weeks of gestation. In postmortem studies, FISH analyses revealed mosaicism on several tissues in both twins. Taking into account this observation, we discuss the difficulties of genetic counseling and management concerning heterokaryotypic monozygotic twins.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 18/genética , Doenças em Gêmeos/diagnóstico , Mosaicismo , Diagnóstico Pré-Natal , Gêmeos Monozigóticos/genética , Adulto , Líquido Amniótico , Transtornos Cromossômicos/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Hibridização Genômica Comparativa , Doenças em Gêmeos/genética , Feminino , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/genética , Humanos , Repetições de Microssatélites , Fenótipo , Gravidez
10.
Vet J ; 196(3): 320-4, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23369383

RESUMO

The serum proteome of canine lymphoma was characterised by one dimensional (1D) serum protein electrophoresis (SPE) on agarose gels, two dimensional (2D) polyacrylamide gel electrophoresis (PAGE) and tandem mass spectrometry (MS). Results were compared with serum proteome data collected previously from the sera of healthy dogs. Twenty-one dogs with high grade multicentric lymphoma had significantly elevated quantities of α2 globulins on 1D SPE. Further separation of the serum proteins was performed on three dogs using a 2D PAGE system. Thirty-six different proteins were identified in 38 bands submitted for MS. Most of the proteins were the same as those previously identified in the sera of healthy dogs. Haptoglobin was identified in the sera of all three dogs with lymphoma and could account for the increased levels of α2 globulins. α2 Macroglobulin, α-antichymotrypsin and inter-α-trypsin inhibitor were also present in dogs with lymphoma. Clusterin, an anti-apoptotic protein, was identified in the serum of one dog with lymphoma. Kininogen, which is present in the sera of healthy dogs, was absent in all three dogs with lymphoma. The 2D electrophoresis technique identified alterations in the serum proteome of dogs with lymphoma and supported previous findings that canine lymphoma has an inflammatory component.


Assuntos
Doenças do Cão/sangue , Eletroforese em Gel Bidimensional/veterinária , Linfoma/veterinária , Espectrometria de Massas/veterinária , Proteoma/biossíntese , Animais , Biomarcadores Tumorais , Doenças do Cão/metabolismo , Cães , Eletroforese em Gel Bidimensional/métodos , Feminino , Linfoma/sangue , Linfoma/metabolismo , Masculino , Espectrometria de Massas/métodos , Proteômica
11.
Acta Chir Belg ; 113(6): 455-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24494476

RESUMO

We present a new surgical technique where skin closure was obtained in the treatment of a thoracolumbar myelomeningocele by mobilization of four muscle flaps, two reverse latissimus dorsi muscle flaps combined with the caudal portions of two trapezius muscle flaps.


Assuntos
Meningomielocele/cirurgia , Procedimentos Neurocirúrgicos/métodos , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos , Feminino , Humanos , Recém-Nascido , Vértebras Lombares , Meningomielocele/diagnóstico , Diagnóstico Pré-Natal , Vértebras Torácicas
12.
J Plast Reconstr Aesthet Surg ; 61(8): 917-24, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17884743

RESUMO

The surgical treatment of wounds located in the median lumbar area is difficult. When occurring after neurosurgical procedures, they may display a high level of complexity because of dural exposure, deep irregular three-dimensional contours, and bacterial contamination of the wound. The difficulty of reconstruction in that region of the body is made greater by the few possible regional flaps available in the vicinity. In order to obtain well-vascularised tissue, with good resistance to bacterial contamination and easy to shape into such defects, the reverse turnover latissimus dorsi flap is a useful surgical option. Between 1998 and 2003, four patients presented with complex lumbar wounds in our department. Three patients were adults (mean age: 63 years) and one patient was 1 year old. In all cases, reconstruction was needed in the lumbar area after surgery on the spine. All wounds presented with bacterial contamination. In three cases, dural exposure was present, while in the fourth case, a small remnant of the posterior vertebral bony lamina was still present after debridement. In all four cases, the reconstruction was successfully achieved by turning over the latissimus dorsi to reach the lumbar midline defect. In one case, the adult paraplegic patient, only the inferior part of the muscle was harvested, to preserve an innervated upper part of the muscle for upper limb function. In the four cases, long term results were excellent (the mean follow up was 3.5 years), with no residual infection.


Assuntos
Região Lombossacral/cirurgia , Retalhos Cirúrgicos , Idoso , Feminino , Humanos , Laminectomia/efeitos adversos , Masculino , Meningomielocele/cirurgia , Pessoa de Meia-Idade , Procedimentos de Cirurgia Plástica/métodos , Úlcera Cutânea/cirurgia , Deiscência da Ferida Operatória/cirurgia , Infecção da Ferida Cirúrgica/cirurgia
13.
Acta Chir Belg ; 107(4): 424-8, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17966539

RESUMO

Post-surgical pyoderma gangrenosum (PSPG) represents a specific entity: it shares some clinical aspects of pyoderma gangrenosum (PG), but has a series of its own features. In this paper, two cases of PSPG associated with breast surgery are presented: their analysis, combined with a review of the few other cases reported in the literature, show the particular clinical presentation and evolution of this condition. Firstly, the onset of PSPG follows a sequence. After an apparently normal evolution of scar formation following a surgical procedure, the scar presents with many small dehiscences, which will progressively coalesce to some larger areas of wound ulceration, with no visible granulation tissue. Secondly, the delay between surgery and the beginning of symptoms is variable, from 4 days to sometimes 6 weeks. The process will evolve well beyond what would be expected for the initial wound that was created by surgery, with no self-limitation. The skin ulcerations become larger, despite any local treatment or antibiotics. Thirdly, PSPG can affect any anatomical location with the exception of the nipple-areolar complex. Fourthly, a dramatic response to immunomodulatory drugs will be observed. The pain is an inconstant symptom. Present in the first week after surgery, it can be severe and disproportionate regarding clinical presentation.


Assuntos
Implante Mamário , Complicações Pós-Operatórias , Pioderma Gangrenoso/etiologia , Deiscência da Ferida Operatória , Adulto , Anti-Inflamatórios/uso terapêutico , Feminino , Humanos , Pessoa de Meia-Idade , Pioderma Gangrenoso/tratamento farmacológico
14.
Acta Chir Belg ; 107(2): 155-61, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17515264

RESUMO

BACKGROUND: Pressure ulcers are a frequent complication of bed rest. The development of an efficient and low cost pressure relieving system for the prevention of bed-sores would be of considerable hospital health and economic interest. Our study was designed to determine the effectiveness in pressure-sore prevention of an interface pressure-decreasing mattress, the Kliniplot mattress, used in our institution since 1978. METHODS: In a prospective randomised controlled 7-month clinical trial we compared the Kliniplot mattress with our standard hospital mattress in 1729 patients admitted to medical and surgical departments (neurology, cardiology, oncology-haematology, neurosurgery, thoracic surgery and orthopaedic surgery). Two groups (Klinipot mattress and standard hospital mattress) were monitored for the prevention of pressure sores. The patients were evaluated on a daily basis from their admission until the eventual occurrence of a bed-sore. Patients' characteristics and pressure-sore risk factors were similar at the baseline in both groups. Patients presenting with a pressure sore at the time of admission were excluded. RESULTS: Forty-two of the 1729 patients (2.4%) who entered the study developed at least one pressure sore. Twenty-one of the 657 patients (3.2%) nursed on the Kliniplot mattress, and 21 of the 1072 patients (1.9%) on the standard mattress developed bed-sores (p = 0.154). The median time for the occurrence of pressure sores was 31 days (range 6-87) with the Kliniplot mattress and 18 days (range 2 to 38) with the standard mattress (p < 0.001). The risk categories for developing bed-sores using the modified Ek's scale were no different at the baseline between both groups (p = 0.764). The severity of the pressure sores was no different between both groups (p = 0.918). CONCLUSIONS: Our results show that the occurrence of pressure sores is not reduced but is delayed when patients are nursed on a Kliniplot pressure-decreasing mattress.


Assuntos
Leitos , Hospitalização , Úlcera por Pressão/prevenção & controle , Bélgica/epidemiologia , Desenho de Equipamento , Humanos , Úlcera por Pressão/epidemiologia , Estudos Prospectivos , Índice de Gravidade de Doença , Fatores de Tempo
16.
Commun Agric Appl Biol Sci ; 71(2 Pt A): 39-48, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17390771

RESUMO

Regulatory requirements, and in particular phytosanitary quality standards change rapidly. As ACP producers/exporters race to become more competitive, to keep their market share and to satisfay their customers' commercial demands (e.g. EUREP-GAP certification), the need for competent staff who are aware of the company's quality objectives and trained to follow instructions is crucial. Mastering sanitary quality is only possible if matched with a programme to build the skills of companies' human resources. The Pesticide Initiative Programme (PIP), mindful of the importance of making operators autonomous and of training them to monitor EU food safety regulations and technology on their own, has successfully developed a training programme while building a quality network of local/ACP service providers. By building the capacities of ACP experts and then securing their services as trainers, PIP also guarantees companies' access to expertise and the sustainability of their efforts to comply with new EU regulations. The training strategy developed by PIP rests on two pilars: instructor training and collective training. Instructor training consists in reinforcing the technical knowledge of local experts (agronomists, hygienists, etc.) by providing them with active teaching methods. Once the ACP experts have gained enough technical knowledge of the key areas of crop protection--mainly pesticides management--and food safety, and have demonstrated their capacity to train the technical staff of local companies, the PIP has carried out a collective training programme in 2004, 2005 and 2006. To date, more than 130 consultants covering about 15 ACP countries have received instructor training, and more than 700 people have participated in collective and in-company training sessions.


Assuntos
Qualidade de Produtos para o Consumidor , Produtos Agrícolas/química , Produtos Agrícolas/normas , Indústria Alimentícia , Resíduos de Praguicidas/análise , União Europeia , Indústria Alimentícia/legislação & jurisprudência , Indústria Alimentícia/normas , Frutas/química , Frutas/normas , Humanos , Legislação sobre Alimentos , Controle de Qualidade , Verduras/química , Verduras/normas , Recursos Humanos
17.
Thyroid ; 15(1): 85-8, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15687829

RESUMO

We report the case of a 36-year old woman with a history of long-term fever associated with a biologic inflammatory syndrome that was not corrected by several courses of corticosteroid treatment. The only remarkable result during previous investigations was the presence of a positive Epstein-Barr virus (EBV) serology. Clinical examination revealed an heterogenous thyroid with a nodule on the right lobe. Serum thyrotropin (TSH) concentration was normal. The levels of antiperoxidase antibodies and thyrocalcitonin were normal. Ultrasound examination of the neck showed a 3-cm hypoechogenous nodule in the right lobe of the thyroid. A total thyroidectomy was performed. Histopathologic findings led to the diagnosis of Riedel's thyroiditis. We observed a dramatic improvement after surgery with absence of fever and normalization of inflammatory parameters. The role of EBV infection in the process of this unusual form of Riedel's thyroiditis is discussed.


Assuntos
Doenças Raras/diagnóstico , Tireoidite/diagnóstico , Adulto , Diagnóstico Diferencial , Técnicas de Diagnóstico por Cirurgia , Infecções por Vírus Epstein-Barr/complicações , Feminino , Humanos , Doenças Raras/patologia , Doenças Raras/cirurgia , Doenças Raras/virologia , Glândula Tireoide/patologia , Tireoidectomia , Tireoidite/patologia , Tireoidite/cirurgia , Tireoidite/virologia
18.
Prenat Diagn ; 24(9): 733-6, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15386469

RESUMO

We report on a fetus with intrauterine growth retardation and multiple malformations diagnosed on ultrasound at 32 weeks. Examination of amniotic fluid cells in culture showed a 47,XY, i(16)(q10), +mar karyotype. Chromosome analysis of both parents was normal. Using spectral karyotyping, we identified the marker chromosome as a mitotically stable acentric marker chromosome derived from chromosome 16. Further studies using subtelomeric fluorescent probes confirmed the presence of an isochromosome for the long arm of chromosome 16 and showed that the acentric marker chromosome derived from the short arm of chromosome 16 leading to a trisomy for the long arm of chromosome 16. After genetic counseling, the parents decided to terminate the pregnancy. Fetal autopsy showed a male fetus with ambiguous external genitalia, cardiac malformation, megacystis and limbs anomalies as observed in other cases of trisomy for the long arm of chromosome 16. In addition, fetal brain examination showed vermian and olfactory bulb hypoplasia.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 16 , Retardo do Crescimento Fetal/genética , Diagnóstico Pré-Natal , Trissomia/diagnóstico , Adulto , Líquido Amniótico/citologia , Feminino , Humanos , Isocromossomos , Masculino , Gravidez , Cariotipagem Espectral , Trissomia/genética
19.
Exp Cell Res ; 291(2): 377-85, 2003 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-14644159

RESUMO

The Cu-ATPase ATP7A (MNK) is localized in the trans-Golgi network (TGN) and relocalizes in the plasma membrane via vesicle-mediated traffic following exposure of the cells to high concentrations of copper. Rab proteins are organelle-specific GTPases, markers of different endosomal compartments; their role has been recently reviewed (Trends Cell Biol. 11(2001) 487). In this article we analyze the endosomal pathway of trafficking of the MNK protein in stably transfected clones of CHO cells, expressing chimeric Rab5-myc or Rab7-myc proteins, markers of early or late endosome compartments, respectively. We demonstrate by immunofluorescence and confocal and electron microscopy techniques that the increase in the concentration of copper in the medium (189 microM) rapidly induces a redistribution of the MNK protein from early sorting endosomes, positive for Rab5-myc protein, to late endosomes, containing the Rab7-myc protein. Cell fractionation experiments confirm these results; i.e., the MNK protein is recruited to the endosomal fraction on copper stimulation and colocalizes with Rab5 and Rab7 proteins. These findings allow the first characterization of the vesicles involved in the intracellular routing of the MNK protein from the TGN to the plasma membrane, a key mechanism allowing appropriate efflux of copper in cells grown in high concentrations of the metal.


Assuntos
Adenosina Trifosfatases/metabolismo , Proteínas de Transporte de Cátions/metabolismo , Endossomos/química , Proteínas Recombinantes de Fusão/metabolismo , Proteínas rab de Ligação ao GTP/análise , Proteínas rab5 de Ligação ao GTP/análise , Adenosina Trifosfatases/genética , Animais , Biomarcadores/análise , Células CHO , Proteínas de Transporte de Cátions/genética , Compartimento Celular , Fracionamento Celular , Cobre/farmacologia , ATPases Transportadoras de Cobre , Cricetinae , Endossomos/metabolismo , Humanos , Microscopia Eletrônica , Transporte Proteico/efeitos dos fármacos , Proteínas Proto-Oncogênicas c-myc/genética , Proteínas Recombinantes de Fusão/análise , Proteínas Recombinantes de Fusão/genética , Transfecção , Proteínas rab de Ligação ao GTP/genética , Proteínas rab5 de Ligação ao GTP/genética , proteínas de unión al GTP Rab7
20.
Rev Med Brux ; 23 Suppl 2: 39-40, 2002.
Artigo em Francês | MEDLINE | ID: mdl-12584908

RESUMO

Plastic surgery associates reconstructive and aesthetic surgery, as these are complementary and cannot be dissociated. Modern techniques in reconstructive surgery include grafts and flap transfers. Our team does 4500 consultations and 750 operations per year, out of which a large proportion of complex reconstructions. In order to treat very various diseases, strong collaborations exist with several units such as orthopaedics, ENT, maxillofacial surgery, neurosurgery, ophthal-mology, gynaecology, and dermatology.


Assuntos
Centro Cirúrgico Hospitalar , Cirurgia Plástica , Bélgica , Hospitais Universitários , Humanos , Centro Cirúrgico Hospitalar/organização & administração
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