ABSTRACT
The aim of this study was to assess the applicability of ARFI elastography for the complementary diagnosis of canine prostatic alterations. Twenty-two healthy dogs and 45 with prostatic alterations were diagnosed by the association of general and specific physical exams. Complete blood count, B-mode and Doppler ultrasound were performed. For the elastography study, tissue homogeneity and deformity were verified using the elastogram, and the shear velocities of the left and right lobes of all prostates were obtained. The change in tissue homogeneity was observed in 62.2% of the animals, while the shear speed was significantly higher in dogs with prostatic alterations, with a cut-off point > 2.35m/s as an indication of change. All animals in both groups were non-deformable. It was concluded that ARFI elastography is capable of providing qualitative and quantitative results that assist in the diagnosis of canine prostatic alterations in a non-invasive way.(AU)
O objetivo deste estudo foi avaliar a aplicabilidade da elastografia ARFI na complementação diagnóstica das alterações prostáticas em cães. Foram avaliados 22 cães saudáveis e 45 com alterações prostáticas, diagnosticadas pela associação de exames físicos geral e específico, hemograma, ultrassonografia modo B e Doppler. No estudo elastográfico, foram verificadas a homogeneidade e a deformidade tecidual, pelo elastograma, e obtidas as velocidades de cisalhamento dos lobos esquerdo e direito de todas as próstatas. A alteração de homogeneidade tecidual foi observada em 62,2% dos animais, enquanto a velocidade de cisalhamento se mostrou significativamente maior em cães com alterações prostáticas, com ponto de corte >2,35m/s como indicativo de alteração. Todos os animais de ambos os grupos se apresentaram não deformáveis. Concluiu-se que a elastografia ARFI é capaz de fornecer resultados qualitativos e quantitativos que auxiliam no diagnóstico das alterações prostáticas caninas de forma não invasiva.(AU)
Subject(s)
Animals , Dogs , Prostate/diagnostic imaging , Elasticity Imaging Techniques/veterinary , Ultrasonography, Doppler/veterinaryABSTRACT
OBJECTIVE: The inflammatory response and the presence of macrophages are reported to be necessary for proper muscle regeneration. However, our understanding of the molecular mechanisms governing how macrophages signal to promote muscle regeneration is incomplete. METHODS AND RESULTS: Here we conditionally deleted Wls, which is required for Wnt secretion, from macrophages and examined the impact on endothelial permeability following muscle injury. The expression of Wnt ligands and Wls was increased in the tibialis anterior (TA) of mice 2 days following BaCl2 injury. Loss of macrophage Wls inhibited the loss of endothelial barrier function, as measured by transendothelial resistance and Evans blue dye permeability assays. Interestingly, the blockade in endothelial permeability correlated with reduced VEGF levels and pretreatment of wild type endothelial cells with a VEGFR2 blocking antibody was sufficient to reduce endothelial permeability induced by stimulated macrophage supernatant. We also found that macrophage Wls-null TAs had myocytes with reduced cross-sectional area 7 day post-injury suggesting a delay in muscle regeneration. CONCLUSION: Our results indicate that macrophage-derived Wnt signaling increases endothelial permeability in a VEGF-dependent fashion following muscle injury. Our findings implicate macrophages as a primary source of Wnt ligands following muscle injury and highlight the Wnt pathway as a therapeutic target following injury.
Subject(s)
Endothelium/pathology , Macrophages/pathology , Muscle, Skeletal/injuries , Muscle, Skeletal/pathology , Wnt Signaling Pathway , Animals , Antibodies, Blocking/pharmacology , Cells, Cultured , Endothelial Cells/pathology , Humans , Mice , Mice, Knockout , Permeability , Regeneration , Vascular Endothelial Growth Factor A/genetics , Vascular Endothelial Growth Factor A/metabolism , Vascular Endothelial Growth Factor Receptor-2/antagonists & inhibitors , Wound HealingABSTRACT
Multiple pregnancies in humans account for only 3% of pregnancies, 97-98% of which are twin pregnancies and the morbimortality is higher in the monochorionic twins when compared to dichorionic ones. The canine species is naturally multiparous, but the diagnosis of monochorionic twin pregnancy is not common. The objective of this report was to describe the ultrasonographic diagnosis of monochorionic twin pregnancies in two bitches [Pug (case 1) and Shih tzu (case 2)]. It was possible to verify the presence of one gestational vesicle containing two fetuses in each female by observing two heads or two bodies within the same placental site. These fetuses presented adequate viability and normal organogenesis. Their development was similar to the other fetuses. In case 1 they were stillborn and smaller than the other five live-born fetuses. The twins in case 2 were born alive, but they also appeared smaller when compared to the littermates. The gestational risks associated with this condition in pregnant bitches are still unknown, however, there are reports of fetal death in monochorionic pregnancies in this species. Therefore, ultrasonographic exam during pregnancy allows an early monochorionic diagnosis and monitoring the fetal viability could bring health benefits to both the female and the littermates.(AU)
As gestações múltiplas em humanos correspondem a apenas 3% das gestações, sendo 97-98% dessas gestações gemelares. Sabe-se que a morbimortalidade fetal é maior em gêmeos monocoriônicos do que nos dicoriônicos. A espécie canina é naturalmente multípara, mas o diagnóstico gestacional de gêmeos monocoriônicos não é comum. O objetivo deste relato é descrever o diagnóstico ultrassonográfico de gêmeos monocoriônicos em duas cadelas, sendo uma da raça Pug (caso 1) e outra da raça Shih-Tzu (caso 2). Foi possível verificar a presença de uma única vesícula gestacional contendo dois fetos em cada cadela, por meio da visibilização de duas cabeças ou de dois corpos dentro de uma mesma placenta. Esses fetos apresentavam viabilidade e organogênese adequadas e o grau de desenvolvimento era similar aos demais fetos da ninhada. No caso 1, os gêmeos nasceram mortos e de tamanho menor que os outros cinco fetos nascidos vivos. Os gêmeos do caso 2 nasceram vivos, mas também eram pequenos em relação aos irmãos da ninhada. Os riscos gestacionais associados a essa condição em cadelas ainda não são conhecidos, no entanto já existem relatos de morte fetal em gestação monocoriônica nessa espécie. Portanto, o exame ultrassonográfico durante a gestação permite um diagnóstico precoce da monocorionicidade, e a monitorização da viabilidade fetal pode trazer benefícios para a saúde da matriz, assim como para o restante da ninhada.(AU)
Subject(s)
Animals , Female , Dogs , Pregnancy, Multiple , Pregnancy, Animal , Ultrasonography, Prenatal/veterinaryABSTRACT
INTRODUCTION: People in Western countries are gaining more and more weight, which is mainly due to a lack of physical activity predisposing to cardiovascular illnesses. Mountaineering, in particular multi-pitch climbing, seems to have protective effects on the metabolic and cardiovascular systems because it is a low-intensity activity lasting several hours, which leads to continuous physical stimulation. METHODS: Eight climbers in four two-person rope teams with a good leisure sports level and regular climbing activity completed a multi-pitch climbing route (Pfriendler 2501 metres above sea level Via Fritz/Steingletscher/Sustenpass Canton of Bern/Switzerland) with a total of seven pitches with difficulties between 4b and 5c(+) (French Scale). Climbers were monitored with heart rate gear during the whole climbing activity, which allowed us to analyse heart rates after climbing. RESULTS: During a single climbing pitch, heart rate values increased from 86â±â18 to 135â±â4 beats per minute on average. The average heart rate was 126â±â2 beats per minute, which is 67â% of the maximum heart rate on average. The whole tour lasted 5âh 55âmin with an average heart rate of 108â±â9 beats per minute being measured, yielding an average of 56â±â5â% of the maximum heart rate. DISCUSSION: The results point out the low intensity of multi-pitch mountaineering and imply a stimulation of fat metabolism, which highlights the potential of mountaineering for preventing metabolic diseases.
Subject(s)
Cardiovascular Diseases/prevention & control , Cardiovascular Diseases/physiopathology , Heart Rate/physiology , Metabolic Diseases/prevention & control , Mountaineering/physiology , Physical Conditioning, Human/methods , Adult , Exercise Therapy/methods , Humans , Male , Metabolic Diseases/physiopathology , Physical ExertionABSTRACT
The aim of this study was to compare differences in average speed in the three competition forms orienteering sprint, long distance and hunt start, and to identify reasons for speed differences. In contrast to classic running disciplines, average speed increased with longer distances, which is probably due to technical requirements or the number of controls, which decreased proportionally with longer distances. These analyses emphasise the importance of map-reading in the area of controls since these parts of the races seem to bear a great deal of potential to optimize running times, thereby enabling runners to achieve their maximum performance levels. Based on these findings, the principal of focusing training on one distance due to biological constraints is less important in orienteering than it is in running disciplines. However, if runners do choose to focus on a certain speed, e.âg. in the case of elite runners, analogous to 5-km runs, the training of sprints or half-marathons for the classic distance should be structured and organised. Runners prioritising sprint should therefore focus on lactate tolerance or speed work in training whereas runners prioritising classic distance should put emphasis on basic endurance and threshold training. To sum up, this study highlights the relevance of cognitive-technical skills in the control area of races. These elements should constantly be trained by orienteers, independently of physical constraints, in order for them to realise their full potential in races.
Subject(s)
Athletic Performance/physiology , Data Interpretation, Statistical , Physical Exertion/physiology , Running/physiology , Sample Size , Walking Speed/physiology , Adolescent , Aging/physiology , Female , Humans , Male , Middle Aged , Reproducibility of Results , Sensitivity and Specificity , Young AdultABSTRACT
The aim of this study was to describe the use of acoustic radiation force impulse (ARFI) elastography in the evaluation of testicular disorders in dogs. Eighteen dogs with testicular disorders (thirty-six testicles) were assessed. Echotexture, size, contours and margins of testes were analysed by ultrasonography. Deformities and tissue stiffness (greyscale and homogenous or heterogeneous) were evaluated by qualitative elastography and shear velocity was determined quantitatively. Subsequent to orchiectomy, testicular samples were collected for histopathology analysis and thirty-six disorders were identified. Qualitative elastography revealed that normal healthy testicular tissues were homogenous and not pliable while the affected testicles had alterations in tissue stiffness and homogeneity. The values obtained for quantitative elastography of the testicular tissues were: normal/healthy - 1.30±0.12 m/s; degenerated - 0.97±0.08 m/s; atrophied - 2.00±0.35 m/s; hypoplastic - 0.82±0.2 m/s; cystic - 1.32±0.18 m/s; orchitis - 2.68±0.42 m/s; interstitial cell tumours - 3.32±0.65 m/s; sertolioma - 2.99±0.07 m/s and leydigoma - 2.73±0.37. ARFI elastography of abnormal testes proved to be an applicable and complementary technique in the diagnosis of testicular disease in dogs.
O objetivo deste estudo foi descrever o uso da elastografia ARFI (acoustic radiation force impulse) para avaliar as afecções testiculares em cães. Dezoito cães com distúrbios testiculares (36 testículos) foram avaliados. Ecotextura, tamanho, contornos e margens dos testículos foram avaliados por meio da ultrassonografia modo-B. A presença de deformidades e a rigidez tecidual (escala de cinza; homogênea ou heterogênea) foram avaliadas pela elastografia qualitativa; e a velocidade de cisalhamento foi determinada pela avaliação quantitativa. Amostras dos tecidos testiculares foram coletadas após orquiectomia para o diagnóstico histopatológico. Após ultrassonografia, orquiectomia e histopatologia, foram identificados 36 distúrbios em tecidos testiculares. Durante a elastografia qualitativa, os tecidos normais apresentaram-se homogêneos e não deformáveis; os testículos alterados demonstraram alterações na rigidez tecidual e de sua homogeneidade. Para a elastografia quantitativa, os valores obtidos foram: tecidos normais - 1,30±0,12m/s; degenerados - 0,97±0,08m/s; atrofiados - 2,00±0,35m/s; hipoplásicos - 0,82±0,2m/s; cistos - 1,32±0,18m/s; orquite - 2,68±0,42m/s; tumores de células intersticiais - 3,32±0,65m/s; sertolioma - 2,99±0,07m/s; e leydigoma - 2,73±0,37m/s. A elastografia ARFI de testículos anormais em cães demonstrou ser uma técnica aplicável e complementar para o diagnóstico de doenças testiculares nessa espécie animal.
Subject(s)
Animals , Dogs , Testicular Diseases/veterinary , Shear Strength , Testis/injuries , Orchiectomy/veterinary , Elasticity Imaging Techniques/veterinaryABSTRACT
The aim of this study was to evaluate the splenic parenchyma of dogs with subclinical ehrlichiosis using Doppler and contrast-enhanced ultrasonography and provide reference values for this organ in affected animals. Seventeen dogs naturally infected with E. canis were selected for this study. Splenic parenchyma echotexture and echogenicity, size and borders were determined by ultrasound scan. The vascular indices of the splenic artery were determined by Doppler. SonoVue, at 0.1mL per animal, was used in microbubble contrast-enhanced ultrasonography to determine wash in, wash out and peak enhancement time in the splenic tissue. B-mode ultrasonography revealed splenomegaly with rounded borders, heterogeneous echotexture and mixed echogenicity. The vascular indices of the splenic artery were: systolic velocity of 22.59±8.07cm/s, diastolic velocity of 5.25±4.66cm/s and resistance index of 0.71±0.14; values not yet reported in Veterinary Medicine. Contrast-enhanced ultrasonography recorded wash in time of 5.31±0.7s, peak enhancement time of 18.56±2.90s and wash out time of 94.56±35.21s. The combination of conventional ultrasonography of the spleen and hemodynamic evaluation by Doppler and contrast-enhanced ultrasonography is important for the diagnosis of canine ehrlichiosis and could help monitor the clinical evolution of subclinical cases.
O objetivo deste estudo foi avaliar o parênquima esplênico de cães com erliquiose na fase subclínica, por meio do Doppler e da ultrassonografia por contraste com microbolhas. Dezessete cães naturalmente infectados por E. canis na fase subclínica foram selecionados para este estudo. Por meio da ultrassonografia, avaliou-se a ecotextura, a ecogenicidade, o tamanho e os bordos do baço e, pelo Doppler, foram determinados os índices vasculares da artéria esplênica dos cães. Para a avaliação por contraste com microbolhas, foi utilizado SonoVue, na dosagem de 0,1mL por animal, e determinou-se o tempo de entrada e saída, bem como o pico de realce no tecido esplênico. Ao exame modo-B, foram observadas esplenomegalia com presença de bordas arredondadas, ecotextura heterogênea e ecogenicidade mista do baço. Ao Doppler, foram encontrados valores para os índices vasculares da artéria esplênica: velocidade sistólica: 22,59±8,07cm/s; velocidade diastólica: 5,25±4,66cm/s; e índice de resistência: 0,71±0,14, valores ainda não descritos em veterinária. Pela ultrassonografia com contraste, observaram-se valores para wash-in de 5,31±0.7s, pico de realce de 18,56±2.90s e wash-out de 94,56±35.21s. A ultrassonografia convencional do baço de cães com erliquiose, associada com a utilização do método Doppler e a ultrassonografia contrastada, é uma importante ferramenta na triagem diagnóstica e pode auxiliar a monitoração e a evolução de animais na fase subclínica.
Subject(s)
Animals , Dogs , Spleen , Spleen/virology , Ehrlichiosis , Ehrlichiosis/veterinary , Carrier State/veterinary , Ultrasonography, Doppler, Pulsed/veterinaryABSTRACT
The objective was to characterize the vascular patterns of testicular blood flow of adult cats, measuring the systolic velocity (SV), diastolic velocity (DV), resistance index (RI), gate time (wash-in) peak enhancement and output time (wash-out) of the contrast and addition of tissue fill characteristics. Forty-five adult cats were selected, and the echotexture, echogenicity, size, contours and margins of testicles were assessed via ultrasound. By Doppler were evaluated the blood flow and determined of vascular index in testicular artery (SV, DV and RI) and via contrast-enhanced ultrasonography determine the time for phases: wash-in, wash-out and peak enhancement. Sonographic findings presented normal. Testicular artery was observed in the spermatic cord with tortuous patter and showed monophasic-patterned waves and low vascular resistance and with systolic peak evident. Values of indices vascular were as follows: SV = 6.73 cm/s, DV = 2.8 cm/s and RI = 0.54 for left testicles; and SV = 6.23 cm/s, DV = 2.77 cm/s and RI = 0.53 for right testicles. Contrast filled the subcapsular vascular structures and after a few seconds, a homogeneous moderate enhancement of the parenchyma, with parenchymal vessels still distinguishable and after the peak phase, a rapid homogeneous decrease in echogenicity. Values of time for contrast-enhanced ultrasonography were as follows: wash-in = 8.78 s, peak enhancement = 21.62 s and wash-out = 75.36 for left testicles; and wash-in = 10.76 s, peak enhancement = 21.50 s and wash-out = 81.81 for right testicles. Doppler and contrast-enhanced ultrasonography of the testicles in healthy adult cats was easily implemented and may provide baseline data for this organ to allow the use of these techniques as a diagnostic tool for evaluating testicular abnormalities in sick cats.
Subject(s)
Cats , Contrast Media , Testis/blood supply , Testis/diagnostic imaging , Ultrasonography, Doppler/veterinary , Ultrasonography/veterinary , Animals , Blood Flow Velocity/veterinary , Diastole , Male , Systole , Ultrasonography/methods , Vascular ResistanceABSTRACT
PURPOSE: Hereditary hemochromatosis is characterized by an excessive absorption and progressive accumulation of iron in the liver, the pancreas, the heart, and the joints. Tiredness and joint manifestations occur usually before hepatopathy, diabetes or cardiopathy. Such common and unspecific symptoms seem to be largely unknown and important diagnostic delays have been reported. The aim of this study was to investigate the discovery circumstances and the diagnostic delay. METHODS: A survey was carried out amongst French patients with C282Y homozygous hemochromatosis who were contacted through patients associations or blood centers. RESULTS: The questionnaire was answered by 374 patients. Mean age at diagnosis was 48.6±11.9years. In 53% of the cases, the serum level of ferritin was greater than 1000 µg/L. Diagnosis was based on family genetic survey (29%), or fortuitous analyses showing an abnormal serum ferritin (26%), or clinical manifestations (45%). Main complaints were joint pain, tiredness or liver disease. Only 2.1% consulted for diabetes, cardiopathy or changed complexion. Time to diagnosis was lower than 1 year for 98% of patients who presented with fatigue but from 1 to 15 years for 23.4% and 29% of patients who presented with arthropathy and hepatopathy, respectively. CONCLUSION: For 55% of patients, diagnosis was based on familial genetic survey or fortuitous abnormal results of blood samples. An initial serum level of ferritin greater than 1000 µg/L was a factor of severity for 50% of patient. These two elements must be taken into account to consider a population mass screening. Long time to diagnosis required a sensitization of the population to be aware of the clinical manifestations of hemochromatosis.
Subject(s)
Delayed Diagnosis/statistics & numerical data , Hemochromatosis/diagnosis , Hemochromatosis/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Data Collection , Diagnosis, Differential , Female , France/epidemiology , Humans , Male , Middle Aged , Young AdultABSTRACT
OBJECTIVES: To review clinical and epidemiologic data of orofacial clefts and to evaluate the efficacy and the impact of prenatal diagnosis. MATERIAL AND METHODS: A population-based retrospective study was carried out on data from the Congenital Malformations of Alsace Registry (France) between 1995 and 2006. RESULTS: A total of 321 orofacial clefts were recorded (overall prevalence, 2.1 per 1000), divided into cleft lip (CL) or cleft lip palate (CLP) (204 cases) and cleft palate (117 cases). The cleft lip and cleft lip palate CL±P sex-ratio was 1.87, whereas the CP sex-ratio was 1. CLs were more often unilateral than CLPs (79% versus 59%). CLs were unilateral in 79% of the cases (60/76), bilateral in 20% of the cases (15/76), and median in 1% (1/76); 55% of the unilateral CLs were right and 45% were left. CLPs were unilateral in 59% of the cases (76/128), bilateral in 39% of the cases (50/128), and median in 2% (2/128); 45% of the unilateral CLPs were right and 55% were left. The 117 CPs were divided into 50 clefts of the total palate (43%) and 67 clefts of the posterior palate (57%); 25 cases (21%) of Pierre Robin sequence were collected. Sixty-six percent of CL±P (134/204) were associated with other congenital anomalies, including chromosome abnormality in 31 cases and identified monogenic syndrome or association in 12 cases. The most frequent chromosome abnormalities were 16 cases of trisomy 13 and 7 cases of trisomy 18. No cases of 22q11.2 microdeletion or duplication were detected among CL±P. Monogenic syndromes were identified in 6% (12/204) of CL±P cases: Van der Woude syndrome (2 cases); CHARGE syndrome (2 cases); ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case). Forty-two percent of CPs (49/117) were associated with other congenital anomalies; chromosome abnormality was identified in 12 cases and monogenic syndrome was diagnosed in 14 cases. The most frequent chromosome abnormality was 22q11 microdeletion (5 cases). Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). Fifty-two percent of CL cases (106/204) were prenatally diagnosed. An increasing tendency was observed between the 1995-2000 and 2001-2006 periods with a detection rate increasing from 47% to 56%. During the whole period, only 1 case of CP was prenatally diagnosed. Eighty-two percent of all cases (263/321) were livebirths; 8 stillbirths were reported (2%); 50 syndromic or associated cases (16%) led to medical abortion (no termination of pregnancy was performed for isolated cleft). CONCLUSION: Orofacial clefts are a frequent malformation with a total prevalence of 2.1 per 1000 total births. Sonbographic prenatal diagnosis of orofacial clefts remains difficult with a mean detection rate about 50% for CL±P and is extremely rare for CP. Associated malformations and genetic syndromes are frequent and require a systematic survey. This study also highlights the different pathogenic background of CL±P compared to CP, regarding the sex-ratio and the proportion and type of associated malformations.
Subject(s)
Cleft Lip/epidemiology , Cleft Palate/epidemiology , Abnormalities, Multiple/epidemiology , Abnormalities, Multiple/genetics , Abortion, Induced/statistics & numerical data , Chromosome Aberrations , Female , France/epidemiology , Humans , Live Birth/epidemiology , Male , Pregnancy , Prenatal Diagnosis/statistics & numerical data , Registries , Retrospective Studies , Sex Distribution , Stillbirth/epidemiologyABSTRACT
Implant loosening is an unresolved complication associated with prosthetics. Previous studies report improved osseointegration with hydroxyapatite (HA) or tri-calcium phosphate coatings. Unfortunately, the brittleness and low strength of these coatings in adhesion to the implant or internal cohesion is problematic, restricting their use. Anodic plasma-chemical (APC) treatment, an advanced anodisation method, allows for porous oxide layer formation with incorporation of calcium and phosphate directly into the oxide. This produces superior adhesive strength than a conventional coating of calcium phosphate offering potential for long-term osseointegration. Although the cytocompatibility of several APC treatments have been previously shown, this study was the first to investigate the biocompatibility and osteoconductivity of APC surfaces in vivo when compared with standard HA coated and noncoated commercially pure titanium implant cortical screws. Sample screws were implanted in female Swiss alpine sheep for 12 weeks. Bone remodelling in situ, differences in bone apposition resulting in cortical thickening as well as peak removal torque measurements were assessed. We found no significant differences between the tested coatings and no delamination was observed with any of the APC-treated surfaces. The results suggest that APC-treated samples have similar biological performance to HA-coated screws. In our opinion, APC treatment, which also has superior binding strength to the base metal compared with standard HA coatings as well as similar biocompatibility as shown here, holds great potential for biomedical applications. Now that the in vivo biocompatibility has been proven, the work is being extended to more challenging in vivo models.
Subject(s)
Biocompatible Materials , Calcium Phosphates/chemistry , Electrodes , Titanium/chemistry , Animals , Female , Fluorescent Dyes/chemistry , Microscopy, Electron, Scanning , Sheep , Surface PropertiesABSTRACT
Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with defects in alpha-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and muscular dystrophy, or muscle-eye-brain disease. The most severe forms of these diseases often have a fetal presentation and lead to a pregnancy termination. We report here the first molecular study on fetal type II LIS in a series of 47 fetuses from 41 unrelated families. Sequencing of the different genes known to be involved in alpha-DG O-glycosylation allowed the molecular diagnosis in 22 families: involvement of POMT1 was demonstrated in 32% of cases, whereas POMGNT1 and POMT2 were incriminated in 15% and in 7% of cases, respectively. We found 30 different mutations in these three genes, 25 were described herein for the first time, 15 in POMT1, and five in POMT2 and POMGNT1. Despite sequencing of FKRP, FCMD, and LARGE, no definitive molecular diagnosis could be made for the other half of our cases. Preliminary results concerning genotype-phenotype correlations show that the choice of the first gene sequenced should depend on the clinical severity of the type II LIS; POMT1 and POMT2 for severest clinical picture and POMGNT1 for milder disease. The other genes, FKRP, FCMD, and LARGE, seem not to be implicated in the fetal form of CMD.
Subject(s)
Gene Expression Regulation , Muscular Dystrophies/embryology , Muscular Dystrophies/genetics , Alleles , Dystroglycans/metabolism , Female , Genotype , Gestational Age , Humans , Male , Mannosyltransferases/genetics , Microsatellite Repeats , Models, Genetic , Mutation , Phenotype , Polymorphism, Single NucleotideABSTRACT
BACKGROUND: Crossed k-wire osteosynthesis is a widely used procedure for displaced supracondylar humerus fractures in children, but the rate of secondary displacements is up to 31%. Alternative techniques including casts, elastic stable intramedullary nailing, and the fixateur extern, have been used, but there are no biomechanical data comparing these methods. We developed a biomechanical model to compare four osteosynthesis techniques for stabilizing supracondylar humerus fractures in children. METHODS: An osteotomy to simulate a fracture was made in a total of 32 adult cadaver humeri. The pseudofractures were then stabilized by crossed k-wires, elastic nailing, a fixateur extern with either k-wires, or Schanz screws. We measured the stiffness values in flexion and extension and torsion with static loading. The movements in cyclic loading were chosen to resemble the mechanism described in the development of a clinical cubitus varus. FINDINGS: No significant differences were found with static loading. With cyclic loading all methods showed an irreversible torsional deformation less than 20 degrees . Crossed k-wires and elastic nailing showed significantly lower reversible torsional deformation than the external fixateurs. INTERPRETATION: Our biomechanical data reveal that the crossed k-wires have the highest stiffness and lowest loss of reduction under cyclic loading. The external fixators proved to be good alternatives.
Subject(s)
Fracture Fixation, Internal/instrumentation , Fracture Fixation, Internal/methods , Humeral Fractures/physiopathology , Humeral Fractures/surgery , Humerus/physiopathology , Humerus/surgery , Cadaver , Child , Elasticity , Humans , In Vitro Techniques , Stress, Mechanical , Treatment Outcome , Weight-BearingABSTRACT
BACKGROUND: Analogous to vertebroplasty, cement-augmentation of the proximal femur ("femoroplasty") could reinforce osteoporotic bones. This study was to evaluate (i) the feasibility of femoroplasty with a composite cement (Cortoss), (ii) its influence on femoral strength by mechanical testing and (iii) the feasibility of stable osteosynthesis of the augmented fractured bones. METHODS: Nine human cadaveric femora were augmented with a composite bone cement, the surface heat generation monitored, and then tested biomechanically against their native contralateral control to determine fracture strength. Subsequently, thirteen reinforced and fractured femora were osteosynthetized by different implants and tested against their osteosynthetisized, non-augmented contralateral control. FINDINGS: Cement could be injected easily, with a moderate temperature rise. A positive correlation between BMD and fracture load and a significant increase in fracture load (+43%) of the augmented femora compared to their native controls (6324 N and 4430 N, respectively) as well as a significant increase in energy-to-failure (+187%, 86 N m and 30 N m, respectively) was found. Osteosynthesis was possible in cement-augmented femora. Osteosynthetisized femora showed equivalent strength to the intact controls. INTERPRETATION: Augmentation of the proximal femur with composite bone cement could be of use in prophylaxis of fractures in osteoporotic femurs. Osteosynthesis of the fractured augmented bones is a challenging procedure but has a good chance to restore strength.
Subject(s)
Bone Cements/chemistry , Femur Head/chemistry , Femur Head/physiology , Osteogenesis/physiology , Biomechanical Phenomena/methods , Bone Cements/therapeutic use , Compressive Strength/drug effects , Compressive Strength/physiology , Elasticity , Feasibility Studies , Female , Femur Head/drug effects , Hardness , Humans , In Vitro Techniques , Male , Osteogenesis/drug effects , Stress, Mechanical , Weight-BearingABSTRACT
OBJECTIVES: Diagnosis, nosological individualization, and treatment of allergic fungal sinusitis remain difficult and controversial despite the increasing number of publications. We present ten cases of allergic fungal sinusitis and review the literature to highlight the main clinical, radiological, biological, immunoallergological, mycological, and therapeutics features. MATERIAL AND METHODS: This retrospective study included ten patients (six men and four women, mean age 45 years) with allergic fungal sinusitis diagnosed on the basis of all diagnostic criteria reported in the literature. RESULTS: Six patients had isolated allergic fungal sinusitis which was associated with allergic bronchopulmonary aspergillosis in the four others. Treatment combined endoscopic sinus surgery and corticosteroids, which provided good results in six patients and average results in three. Treatment failure was observed in one patient. CONCLUSION: As in the case of allergic bronchopulmonary aspergillosis, a set of clinical, radiological, histopathological, immunoallergological and mycological criteria is necessary for precise diagnosis and to avoid fungal drift. The most appropriate endoscopic sinus surgery and the best corticosteroid regimen remain to be determined.
Subject(s)
Aspergillosis/complications , Rhinitis, Allergic, Perennial/microbiology , Adult , Anti-Bacterial Agents/therapeutic use , Anti-Inflammatory Agents/therapeutic use , Aspergillosis/diagnostic imaging , Aspergillosis/therapy , Combined Modality Therapy , Endoscopy/methods , Female , Humans , Male , Middle Aged , Retrospective Studies , Rhinitis, Allergic, Perennial/diagnostic imaging , Rhinitis, Allergic, Perennial/therapy , Tomography, X-Ray ComputedABSTRACT
The anodic plasma-chemical (APC) process was used to modify CP titanium surfaces for biomedical applications. This technique allows for the combined chemical and morphological modification of titanium surfaces in a single process step. The resulting conversion coatings, typically several micrometer thick, consist mainly of titanium oxide and significant amounts of electrolyte constituents. In this study, a new electrolyte was developed containing both calcium-stabilized by complexation with EDTA-and phosphate ions at pH 14. The presence of the Ca-EDTA complex, negatively charged at high pH, favors incorporation of high amounts of calcium into the APC coatings during the anodic (positive) polarization. The coating properties were evaluated as a function of the process variables by XPS, GD-OES, Raman spectroscopy, SEM and tensile testing, and compared to those of calcium-free APC coatings and uncoated CP titanium surfaces. The maximal Ca/P atomic ratio in the coating produced with the new APC electrolyte was approximately 1.3, with higher Ca concentrations than reported in conventional APC coatings. The dissolution behavior of the incorporated, amorphous CaP phases was investigated by exposure to a diluted EDTA solution. The coatings produced in the new electrolyte system exhibit favorable mechanical stability. The new APC technology is believed to be a versatile and cost-effective coating technique to render titanium implant surfaces bioactive.
Subject(s)
Calcium Phosphates/chemistry , Coated Materials, Biocompatible/chemistry , Crystallization/methods , Electrochemistry/methods , Materials Testing/methods , Titanium/chemistry , Adsorption , Biomedical Engineering/methods , Coated Materials, Biocompatible/chemical synthesis , Electrodes , Gases/chemistry , Hot Temperature , Molecular Conformation , Surface Properties , Tensile StrengthABSTRACT
Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi: Tetraploidy is characterized by four complete sets of chromosomes (4n= 92). Although it has been frequently reported in spontaneous abortions, tetraploidy is extremely rare in term pregnancy. Most of late surviving patients are diploid/tetraploid mosaics and present severe mental and physical impairment. Up to date, only five tetraploidies were ascertained in the prenatal stage in amniocytes and/or fetal blood lymphocytes. No one has been reported in chorionic villi probably because tetraploidy is generally considered in this tissue as a false positive result due to confined placental mosaicism (CPM) or placental culture artefacts. We report here on a case of tetraploidy detected in chorionic villi because of fetal cystic hygroma. We discuss the reliability of this diagnosis and propose guidelines in the follow-up of tetraploidies detected after chorionic villus sampling (CVS). Thus a misdiagnosis of this poor condition will be avoided at best and an appropriate genetic counseling will be given to the parents.
Subject(s)
Chorionic Villi Sampling , Fetal Diseases/diagnosis , Fetal Diseases/genetics , Polyploidy , Amniocentesis , Chromosome Aberrations , Fatal Outcome , Female , Fetal Diseases/diagnostic imaging , Guidelines as Topic , Humans , Karyotyping , Lymphangioma, Cystic/diagnosis , Lymphangioma, Cystic/embryology , Lymphangioma, Cystic/genetics , Male , Mosaicism , Placenta/cytology , Pregnancy , Pregnancy Complications , Reproducibility of Results , UltrasonographyABSTRACT
Fibroblast growth factors (FGF), hepatocyte growth factor (HGF) and their receptors, FGFR and c-Met, are essential components of the regulatory networks between the epithelium and mesenchyme in embryonic lung, but their respective roles in tumour growth are not clear. We performed allelotyping at loci containing the candidate genes FGFR-1-2-3-4, FGF-1-2-7-10, c-Met and HGF in 36 non-small cell lung cancer (NSCLC) (20 squamous-cell carcinomas (SQC) and 16 adenocarcinomas (ADC)), by surrounding each locus with two microsatellites (MS), as close as possible to the genes of interest. Unexpectedly, SQC and ADC were frequently altered at all of these loci, and SQC showed more simultaneously altered loci. In ADC, alterations at the 15q13-22 locus (FGF7 candidate gene) were significantly more frequent. Thus, these loci showed different patterns of molecular alterations between SQC and ADC. Finally, alterations at loci containing FGFR and HGF candidate genes were inversely correlated to the lymph node status in SQC and ADC, respectively.
Subject(s)
Allelic Imbalance/genetics , Carcinoma, Non-Small-Cell Lung/genetics , Lung Neoplasms/genetics , Adult , Aged , Aged, 80 and over , Cluster Analysis , Disease Progression , Female , Fibroblast Growth Factors/genetics , Hepatocyte Growth Factor/genetics , Humans , Male , Middle Aged , Prospective Studies , Proto-Oncogene Proteins c-met/genetics , Receptors, Fibroblast Growth Factor/geneticsABSTRACT
We report on two male siblings with partial trisomy 2p22-pter and partial monosomy 15q26-qter resulting from a maternally derived translocation t(2;15)(p22;q26). Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of pregnancy. This report demonstrates the importance of chromosomal analysis in the etiologic exploration of neural tube defects and supports the importance of 2p24 triplication in neural tube development.