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1.
Anim Genet ; 51(3): 391-408, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32100321

RESUMEN

The aim of this study was to detect selection signatures considering cows from the German Holstein (GH) and the local dual-purpose black and white (DSN) population, as well as from generated sub-populations. The 4654 GH and 261 DSN cows were genotyped with the BovineSNP50 Genotyping BeadChip. The geographical herd location was used as an environmental descriptor to create the East-DSN and West-DSN sub-populations. In addition, two further sub-populations of GH cows were generated, using the extreme values for solutions of residual effects of cows for the claw disorder dermatitis digitalis. These groups represented the most susceptible and most resistant cows. We used cross-population extended haplotype homozygosity methodology (XP-EHH) to identify the most recent selection signatures. Furthermore, we calculated Wright's fixation index (FST ). Chromosomal segments for the top 0.1 percentile of negative or positive XP-EHH scores were studied in detail. For gene annotations, we used the Ensembl database and we considered a window of 250 kbp downstream and upstream of each core SNP corresponding to peaks of XP-EHH. In addition, functional interactions among potential candidate genes were inferred via gene network analyses. The most outstanding XP-EHH score was on chromosome 12 (at 77.34 Mb) for DSN and on chromosome 20 (at 36.29-38.42 Mb) for GH. Selection signature locations harbored QTL for several economically important milk and meat quality traits, reflecting the different breeding goals for GH and DSN. The average FST value between GH and DSN was quite low (0.068), indicating shared founders. For group stratifications according to cow health, several identified potential candidate genes influence disease resistance, especially to dermatitis digitalis.


Asunto(s)
Cruzamiento , Bovinos/genética , Variación Genética , Selección Genética , Animales , Femenino , Genotipo , Anotación de Secuencia Molecular , Polimorfismo de Nucleótido Simple
2.
Animal ; 13(10): 2146-2155, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30854999

RESUMEN

Black and White dual-purpose cattle (DSN) are kept in diverse production systems, but the same set of genetic parameters is used for official national genetic evaluations, neglecting the herd or production system characteristics. The aim of the present study was to infer genetic (co)variance components within and across defined herd descriptor groups or clusters, considering only herds keeping the local and endangered DSN breed. The study considered 3659 DSN and 2324 Holstein Friesian (HF) cows from parities one to three. The 46 herds always kept DSN cows, but in most cases, herds were 'mixed' herds (Mixed), including both genetic lines HF and DSN. In order to study environmental sensitivity, we had a focus on the naturally occurring negative energy balance in the early lactation period. In consequence, traits were records from the 1st official test-day after calving for milk yield (Milk-kg), somatic cell score (SCS) and fat-to-protein ratio (FPR). Genetic parameters were estimated in bivariate runs (separate runs for the three genetic lines Mixed, HF and DSN), defining the same trait from different herd groups or clusters as different traits. Additive-genetic variances and heritabilities were larger in herd groups that indicated superior herd management, implying that cow records from these herds allow a better genetic differentiation. Superior herd management included larger herds, low calving age, high herd production levels and low intra-herd somatic cell count. Herd descriptor group differences in additive-genetic variances for Milk-kg were stronger in HF than in DSN, indicating environmental sensitivity for DSN. Similar variance components and heritabilities across groups, clusters and genetic lines were found for data stratification according to geographical descriptors altitude and latitude. Considering 72 bivariate herd group runs, 29 genetic correlations were very close to 1 (mostly for Milk-kg). Somatic cell score was the trait showing the smallest genetic correlations, especially in the DSN analyses, and when stratifying herds according to genetic line compositions (rg=0.11), or according to the percentage of natural service sires (rg=0.08). For estimations based on the results of a cluster analysis considering several herd descriptors simultaneously, indications for genotype × environment interactions could be found for SCS, but genetic correlations were larger than 0.80 for Milk-kg and FPR. In conclusion, we suggest multiple-trait animal model applications in genetic evaluations, in order to select the best sires for specific herd environments or herd clusters.


Asunto(s)
Bovinos/genética , Interacción Gen-Ambiente , Leche/metabolismo , Animales , Recuento de Células/veterinaria , Análisis por Conglomerados , Femenino , Genotipo , Lactancia , Masculino , Fenotipo
3.
J Dairy Sci ; 102(1): 488-502, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30343923

RESUMEN

The aim of this study was to compare genetic (co)variance components and prediction accuracies of breeding values from genomic random regression models (gRRM) and pedigree-based random regression models (pRRM), both defined with or without an additional environmental gradient. The used gradient was a temperature-humidity index (THI), considered in statistical models to investigate possible genotype by environment (G×E) interactions. Data included 106,505 test-day records for milk yield (MY) and 106,274 test-day records for somatic cell score (SCS) from 12,331 genotyped Holstein Friesian daughters of 522 genotyped sires. After single nucleotide polymorphism quality control, all genotyped animals had 40,468 single nucleotide polymorphism markers. Test-day traits from recording years 2010 to 2015 were merged with temperature and humidity data from the nearest weather station. In this regard, 58 large-scale farms from the German federal states of Berlin-Brandenburg and Mecklenburg-West Pomerania were allocated to 31 weather stations. For models with a THI gradient, additive genetic variances and heritabilities for MY showed larger fluctuations in dependency of DIM and THI than for SCS. For both traits, heritabilities were smaller from the gRRM compared with estimates from the pRRM. Milk yield showed considerably larger G×E interactions than SCS. In genomic models including a THI gradient, genetic correlations between different DIM × THI combinations ranged from 0.26 to 0.94 for MY. For SCS, the lowest genetic correlation was 0.78, estimated between SCS from the last DIM class and the highest THI class. In addition, for THI × THI combinations, genetic correlations were smaller for MY compared with SCS. A 5-fold cross-validation was used to assess prediction accuracies from 4 different models. The 4 different models were gRRM and pRRM, both modeled with or without G×E interactions. Prediction accuracy was the correlation between breeding values for the prediction data set (i.e., excluding the phenotypic records from this data set) with respective breeding values considering all phenotypic information. Prediction accuracies for sires and for their daughters were largest for the gRRM considering G×E interactions. Such modeling with 2 covariates, DIM and THI, also allowed accurate predictions of genetic values at specific DIM. In comparison with a pRRM, the effect of a gRRM with G×E interactions on gain in prediction accuracies was stronger for daughters than for sires. In conclusion, we found stronger effect of THI alterations on genetic parameter estimates for MY than for SCS. Hence, gRRM considering THI especially contributed to gain in prediction accuracies for MY.


Asunto(s)
Bovinos/genética , Sitios de Carácter Cuantitativo , Animales , Cruzamiento , Bovinos/fisiología , Femenino , Variación Genética , Genómica , Genotipo , Respuesta al Choque Térmico , Calor , Masculino , Leche/metabolismo , Modelos Genéticos , Linaje , Fenotipo , Polimorfismo de Nucleótido Simple , Análisis de Regresión , Tiempo (Meteorología)
4.
J Laryngol Otol ; 132(7): 636-641, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29954474

RESUMEN

OBJECTIVES: To evaluate for the first time the prevalence of human papillomavirus in oropharyngeal squamous cell carcinoma in a Middle-Eastern population, and to determine associations between human papillomavirus profiles and clinicopathological characteristics. METHODS: A retrospective chart review was conducted of all patients treated for oropharyngeal squamous cell carcinoma at the Hotel Dieu de France University Hospital (Beirut, Lebanon) between January 2010 and 2016. Existing formalin-fixed paraffin-embedded tumour samples were analysed. Human papillomavirus DNA viral load and p16 expression were evaluated using polymerase chain reaction and immunohistochemistry respectively. RESULTS: Thirty patients (mean age of 60 years) were included. Twenty-seven per cent of patients were p16-positive/human papillomavirus DNA positive, 53 per cent were p16-negative/human papillomavirus DNA negative and 20 per cent were p16-positive/human papillomavirus DNA negative. Human papillomavirus 16 was the most frequent subtype (75 per cent). Smoking and alcohol consumption were significantly lower in the human papillomavirus positive group compared to the human papillomavirus negative group (p = 0.049 and 0.004, respectively). CONCLUSION: Human papillomavirus rate was lower than reported rates in Western populations. Possible explanations include differences in social and cultural behaviours.


Asunto(s)
Carcinoma de Células Escamosas/virología , Neoplasias Orofaríngeas/virología , Papillomaviridae/genética , Infecciones por Papillomavirus/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , ADN Viral/sangre , Femenino , Humanos , Líbano/epidemiología , Masculino , Persona de Mediana Edad , Infecciones por Papillomavirus/sangre , Infecciones por Papillomavirus/complicaciones , Prevalencia , Estudios Retrospectivos , Carga Viral
5.
Anim Genet ; 49(3): 178-192, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29624705

RESUMEN

Holstein Friesian cow training sets were created according to disease incidences. The different datasets were used to investigate the impact of random forest (RF) and genomic BLUP (GBLUP) methodology on genomic prediction accuracies. In addition, for further verifications of some specific scenarios, single-step genomic BLUP was applied. Disease traits included the overall trait categories of (i) claw disorders, (ii) clinical mastitis and (iii) infertility from 80 741 first lactation Holstein cows kept in 58 large-scale herds. A subset of 6744 cows was genotyped (50K SNP panel). Response variables for all scenarios were de-regressed proofs (DRPs) and pre-corrected phenotypes (PCPs). Initially, all sick cows were allocated to the testing set, and healthy cows represented the training set. For the ongoing cow allocation schemes, the number of sick cows in the training set increased stepwise by moving 10% of the sick cows from the testing to the training set in each step. The size of training and testing sets was kept constant by replacing the same number of cows in the testing set with (randomly selected) healthy cows from the training set. For both the RF and GBLUP methods, prediction accuracies were larger for DRPs compared to PCPs. For PCPs as a response variable, the largest prediction accuracies were observed when the disease incidences in training sets reflected the disease incidence in the whole population. A further increase in prediction accuracies for some selected cow allocation schemes (i.e. larger prediction accuracies compared to corresponding scenarios with RF or GBLUB) was achieved via single-step GBLUP applications. Correlations between genome-wide association study SNP effects and RF importance criteria for single SNPs were in a moderate range, from 0.42 to 0.57, when considering SNPs from all chromosomes or from specific chromosome segments. RF identified significant SNPs close to potential positional candidate genes: GAS1, GPAT3 and CYP2R1 for clinical mastitis; SPINK5 and SLC26A2 for laminitis; and FGF12 for endometritis.


Asunto(s)
Enfermedades de los Bovinos/genética , Bovinos/genética , Genómica/métodos , Polimorfismo de Nucleótido Simple , Animales , Cruzamiento , Femenino , Estudios de Asociación Genética , Genotipo , Modelos Genéticos , Fenotipo
6.
J Anim Breed Genet ; 134(1): 78-84, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27339108

RESUMEN

In the last decades, several endangered breeds of livestock species have been re-established effectively. However, the successful revival of the Dutch and Danish Landrace goats involved crossing with exotic breeds and the ancestry of the current populations is therefore not clear. We have generated genotypes for 27 FAO-recommended microsatellites of these landraces and three phenotypically similar Nordic-type landraces and compared these breeds with central European, Mediterranean and south-west Asian goats. We found decreasing levels of genetic diversity with increasing distance from the south-west Asian domestication site with a south-east-to-north-west cline that is clearly steeper than the Mediterranean east-to-west cline. In terms of genetic diversity, the Dutch Landrace comes next to the isolated Icelandic breed, which has an extremely low diversity. The Norwegian coastal goat and the Finnish and Icelandic landraces are clearly related. It appears that by a combination of mixed origin and a population bottleneck, the Dutch and Danish Land-races are separated from the other breeds. However, the current Dutch and Danish populations with the multicoloured and long-horned appearance effectively substitute for the original breed, illustrating that for conservation of cultural heritage, the phenotype of a breed is more relevant than pure ancestry and the genetic diversity of the original breed. More in general, we propose that for conservation, the retention of genetic diversity of an original breed and of the visual phenotype by which the breed is recognized and defined needs to be considered separately.


Asunto(s)
Cabras/clasificación , Cabras/genética , Repeticiones de Microsatélite , Animales , Conservación de los Recursos Naturales , Femenino , Masculino , Filogeografía
7.
J Dairy Sci ; 99(9): 7261-7273, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27344385

RESUMEN

A simulation study was conducted to investigate the performance of random forest (RF) and genomic BLUP (GBLUP) for genomic predictions of binary disease traits based on cow calibration groups. Training and testing sets were modified in different scenarios according to disease incidence, the quantitative-genetic background of the trait (h(2)=0.30 and h(2)=0.10), and the genomic architecture [725 quantitative trait loci (QTL) and 290 QTL, populations with high and low levels of linkage disequilibrium (LD)]. For all scenarios, 10,005 SNP (depicting a low-density 10K SNP chip) and 50,025 SNP (depicting a 50K SNP chip) were evenly spaced along 29 chromosomes. Training and testing sets included 20,000 cows (4,000 sick, 16,000 healthy, disease incidence 20%) from the last 2 generations. Initially, 4,000 sick cows were assigned to the testing set, and the remaining 16,000 healthy cows represented the training set. In the ongoing allocation schemes, the number of sick cows in the training set increased stepwise by moving 10% of the sick animals from the testing set to the training set, and vice versa. The size of the training and testing sets was kept constant. Evaluation criteria for both GBLUP and RF were the correlations between genomic breeding values and true breeding values (prediction accuracy), and the area under the receiving operating characteristic curve (AUROC). Prediction accuracy and AUROC increased for both methods and all scenarios as increasing percentages of sick cows were allocated to the training set. Highest prediction accuracies were observed for disease incidences in training sets that reflected the population disease incidence of 0.20. For this allocation scheme, the largest prediction accuracies of 0.53 for RF and of 0.51 for GBLUP, and the largest AUROC of 0.66 for RF and of 0.64 for GBLUP, were achieved using 50,025 SNP, a heritability of 0.30, and 725 QTL. Heritability decreases from 0.30 to 0.10 and QTL reduction from 725 to 290 were associated with decreasing prediction accuracy and decreasing AUROC for all scenarios. This decrease was more pronounced for RF. Also, the increase of LD had stronger effect on RF results than on GBLUP results. The highest prediction accuracy from the low LD scenario was 0.30 from RF and 0.36 from GBLUP, and increased to 0.39 for both methods in the high LD population. Random forest successfully identified important SNP in close map distance to QTL explaining a high proportion of the phenotypic trait variations.


Asunto(s)
Cruzamiento , Enfermedades de los Bovinos/epidemiología , Bovinos/genética , Predisposición Genética a la Enfermedad/epidemiología , Genómica , Animales , Calibración , Enfermedades de los Bovinos/genética , Femenino , Técnicas de Genotipaje , Incidencia , Desequilibrio de Ligamiento , Modelos Biológicos , Análisis de Secuencia por Matrices de Oligonucleótidos , Fenotipo , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo
8.
J Microbiol Methods ; 119: 228-32, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26578242

RESUMEN

The bacterial ghost (BG) production is a field of biotechnology for applications in vaccine and drug delivery. We assessed the capacity of BG for delivery of a recombinant gene encoded for both cell mediated and antibody dependent epitopes of hepatitis C virus (HCV) into murine macrophages. Escherichia coli (E. coli) cells were transformed with the lysis plasmid (pHH43). To produce chimeric gene, NS3 (non-structural protein 3) and core regions of HCV genome were fused together by splicing by overlap extension (SOEing) PCR and were cloned into plasmid pEGFP-C1. Bacterial ghosts were loaded with recombinant pEGFP-C1 and then were transferred to murine macrophages (RAW 264.7). To investigate plasmid transfection and chimeric mRNA transcription, fluorescent microscopy and RT-PCR were used. In vitro studies indicated that bacterial ghosts loaded with pEGFP-C1 plasmid were efficiently taken up by murine macrophages and indicated a high transfection rate (62%), as shown by fluorescent microscopy. RT-PCR from extracted intracellular mRNAs for chimeric Core-NS3 gene showed a specific 607 bp fragment of the gene. The sequence analysis of purified PCR products demonstrated the expected unique mRNA sequence. We constructed a chimeric HCV gene containing both cell mediated and antibody dependent epitopes with a significant expression in murine macrophages delivered by bacterial ghost.


Asunto(s)
Escherichia coli/genética , Expresión Génica , Técnicas de Transferencia de Gen , Hepacivirus/genética , Macrófagos/virología , Transfección , Animales , Escherichia coli/metabolismo , Técnicas de Transferencia de Gen/instrumentación , Hepacivirus/metabolismo , Humanos , Ratones , Células RAW 264.7
9.
J Chem Phys ; 143(10): 104904, 2015 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-26374059

RESUMEN

Experimental data of the DNA cyclization (J-factor) at short length scales exceed the theoretical expectation based on the wormlike chain (WLC) model by several orders of magnitude. Here, we propose that asymmetric bending rigidity of the double helix in the groove direction can be responsible for extreme bendability of DNA at short length scales and it also facilitates DNA loop formation at these lengths. To account for the bending asymmetry, we consider the asymmetric elastic rod (AER) model which has been introduced and parametrized in an earlier study [B. Eslami-Mossallam and M. R. Ejtehadi, Phys. Rev. E 80, 011919 (2009)]. Exploiting a coarse grained representation of the DNA molecule at base pair (bp) level and using the Monte Carlo simulation method in combination with the umbrella sampling technique, we calculate the loop formation probability of DNA in the AER model. We show that the DNA molecule has a larger J-factor compared to the WLC model which is in excellent agreement with recent experimental data.


Asunto(s)
ADN , Modelos Genéticos , Modelos Moleculares , Conformación de Ácido Nucleico , Simulación por Computador , ADN/química , Elasticidad , Método de Montecarlo
10.
Acta Chir Belg ; 115(6): 414-7, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26763840

RESUMEN

OBJECTIVES: The incidence of papillary thyroid carcinoma increased in several countries. The purpose of this study was to quantify the changes in thyroid carcinomas in our University Hospital. STUDY DESIGN: Retrospective study. METHODS: All 1.927 thyroidectomy cases studied in the Pathology Department of Hotel-Dieu de France Hospital (Beirut, Lebanon), between 2003 and 2013, were included. RESULTS: The Female/Male Sex Ratio of the studied population was 3.7/1. The mean age of female patients was significantly lower than that of male patients. The most frequent diagnoses were multinodular goiter (78%) and papillary-carcinoma (26%). 337 cases had a single lesion on gross examination. 21 of them were diagnosed with follicular carcinoma and 59 with follicular adenoma. A statistically significant correlation was found between the unicity of the lesion on gross examination and the final diagnosis of a follicular neoplasm. Thyroid carcinoma was multifocal in 33% of the cases and bilateral in 24%. A statistically significant increase in thyroid carcinoma proportion (from 15% in 2003 to 44% in 2013) was found. Among all thyroid carcinomas, the proportion of papillary type increased from 65% in 2003 to 94% in 2013 ; this increase remained statistically significant after the exclusion of papillary micro-carcinomas, whose proportion was stable throughout the 11 years. CONCLUSIONS: In this study, we noted a statistically significant increase in the frequency of thyroid carcinoma, especially of the papillary type. The unicity of the lesion on gross examination is significantly associated with a follicular neoplasm.


Asunto(s)
Adenoma/epidemiología , Carcinoma/epidemiología , Bocio Nodular/epidemiología , Neoplasias de la Tiroides/epidemiología , Tiroiditis/epidemiología , Adenoma/patología , Adenoma/cirugía , Adulto , Carcinoma/patología , Carcinoma/cirugía , Carcinoma Papilar , Femenino , Bocio Nodular/patología , Bocio Nodular/cirugía , Hospitales Universitarios , Humanos , Líbano , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Cáncer Papilar Tiroideo , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/cirugía , Tiroidectomía , Tiroiditis/patología , Tiroiditis/cirugía
11.
Eur Ann Otorhinolaryngol Head Neck Dis ; 130(5): 293-5, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23835073

RESUMEN

INTRODUCTION: Laryngeal plasmacytosis (LP) is a rare benign lesion of mature polyclonal plasma cells, which should be differentiated from extramedullary plasmacytoma. CASE REPORT: Isolated laryngeal plasmacytosis was discovered in a 59-year-old woman, free of symptoms other than chronic hoarseness. DISCUSSION: Histological presentation, treatment modalities and prognosis are discussed. CONCLUSION: Laryngeal plasmacytosis is a rare benign lesion that must be considered in case of submucosal polyclonal plasma cell infiltrate.


Asunto(s)
Neoplasias Laríngeas/diagnóstico , Plasmacitoma/diagnóstico , Biopsia , Diagnóstico Diferencial , Femenino , Ronquera/etiología , Humanos , Cadenas kappa de Inmunoglobulina/análisis , Cadenas lambda de Inmunoglobulina/análisis , Neoplasias Laríngeas/patología , Laringe/patología , Microscopía Fluorescente , Persona de Mediana Edad , Células Plasmáticas/patología , Plasmacitoma/patología , Pronóstico , Sindecano-1/análisis , Tomografía Computarizada por Rayos X
12.
Artículo en Inglés | MEDLINE | ID: mdl-23021002

RESUMEN

INTRODUCTION: Intraparotid locations are extremely rare in Kimura disease, especially in Europe. CASE REPORT: A 31-year-old man presented with intraparotid Kimura disease, managed by parotidectomy. DISCUSSION/CONCLUSION: The case was analyzed in the light of a review of the literature, focusing on the diagnostic and anatomopathologic problems encountered, and the physiopathology and treatment of this pathology. Any parotid mass found in a patient of Far-Eastern origin showing hypereosinophilia should suggest a diagnosis of intraparotid Kimura disease.


Asunto(s)
Hiperplasia Angiolinfoide con Eosinofilia , Enfermedades de las Parótidas , Adulto , Hiperplasia Angiolinfoide con Eosinofilia/sangre , Hiperplasia Angiolinfoide con Eosinofilia/patología , Hiperplasia Angiolinfoide con Eosinofilia/cirugía , Pueblo Asiatico , Cambodia/etnología , Diagnóstico Diferencial , Francia , Humanos , Inmunoglobulina E/sangre , Imagen por Resonancia Magnética , Masculino , Enfermedades de las Parótidas/sangre , Enfermedades de las Parótidas/patología , Enfermedades de las Parótidas/cirugía
13.
Eur Ann Otorhinolaryngol Head Neck Dis ; 129(6): 319-26, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23182606

RESUMEN

OBJECTIVES: The authors present the French Society of Otorhinolaryngology (SFORL) guidelines for histopathologic assessment of head and neck cancer. MATERIAL AND METHODS: [corrected] A multidisciplinary workgroup set up by the SFORL performed an exhaustive review of the literature according to levels of evidence, following the 2000 guidelines of the French national health approvals and assessment agency (ANAES). RESULTS: Comparison between histologic and clinical data is essential. In case of discrepancy between clinical, radiological and histological findings, reinterpretation or new biopsy may be required (professional consensus). Mere suspicion of carcinoma on fine-needle aspiration lymph-node biopsy only exceptionally warrants aggressive treatment (professional consensus). Exploration for HPV is not recommended as routine practice, being without therapeutic impact (professional consensus). Anti-p16 immunohistochemistry is optional, for epidemiological purposes (professional consensus). Tumor-bank tissue storage must conform strictly to prevailing legislation and good practice rules for sampling and preservation (professional consensus). CONCLUSION: Pathology assessment is mandatory in suspected H&N squamous cell carcinoma. The present guidelines are intended to optimize management.


Asunto(s)
Carcinoma de Células Escamosas/patología , Neoplasias de Cabeza y Cuello/patología , Carcinoma de Células Escamosas/terapia , Neoplasias de Cabeza y Cuello/terapia , Humanos
14.
Eur Ann Otorhinolaryngol Head Neck Dis ; 129(3): 157-9, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22480967

RESUMEN

INTRODUCTION: Parathyroid carcinomas are rare and usually difficult to diagnose, both clinically and histologically. CASE REPORT: A 60-year-old man was hospitalised for hypotension. Investigations revealed renal failure associated with hypercalcaemia and elevated serum parathormone. (99m)Tc-sestamibi scintigraphy of the parathyroid glands (PT) revealed a mass in the right PT that was treated by parathyroidectomy and recurrent laryngeal lymph node dissection. Histological examination demonstrated a tumour with numerous cytonuclear atypias and immuno-histochemistry demonstrated PTH expression by tumour cells without loss of parafibromin expression. The diagnosis of PTC was based on criteria of invasion and local aggressiveness, despite the absence of lymph node metastasis. The patient developed four recurrences, treated surgically and by adjuvant radiotherapy. DISCUSSION: The diagnosis of PTC is usually difficult to establish on a simple histological examination in the absence of specific cytological, architectural or immuno-histochemical markers. This diagnosis must therefore be based on a combination of clinical, radiological and histological signs in a context of atypical presentation of parathyroid tumour.


Asunto(s)
Neoplasias de las Paratiroides/patología , Diagnóstico Diferencial , Humanos , Escisión del Ganglio Linfático , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Glándulas Paratiroides/patología , Hormona Paratiroidea/sangre , Neoplasias de las Paratiroides/cirugía , Paratiroidectomía , Reoperación , Tiroidectomía
15.
Mol Ecol ; 17(1): 275-84, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17927711

RESUMEN

For about 10 000 years, farmers have been managing cattle, sheep, and goats in a sustainable way, leading to animals that are well adapted to the local conditions. About 200 years ago, the situation started to change dramatically, with the rise of the concept of breed. All animals from the same breed began to be selected for the same phenotypic characteristics, and reproduction among breeds was seriously reduced. This corresponded to a strong fragmentation of the initial populations. A few decades ago, the selection pressures were increased again in order to further improve productivity, without enough emphasis on the preservation of the overall genetic diversity. The efficiency of modern selection methods successfully increased the production, but with a dramatic loss of genetic variability. Many industrial breeds now suffer from inbreeding, with effective population sizes falling below 50. With the development of these industrial breeds came economic pressure on farmers to abandon their traditional breeds, and many of these have recently become extinct as a result. This means that genetic resources in cattle, sheep, and goats are highly endangered, particularly in developed countries. It is therefore important to take measures that promote a sustainable management of these genetic resources; first, by in situ preservation of endangered breeds; second, by using selection programmes to restore the genetic diversity of industrial breeds; and finally, by protecting the wild relatives that might provide useful genetic resources.


Asunto(s)
Cruzamiento/métodos , Bovinos/genética , Conservación de los Recursos Naturales , Variación Genética , Genética de Población , Cabras/genética , Ovinos/genética , Animales , Análisis por Conglomerados , ADN Mitocondrial/genética , Demografía , Geografía , Polimorfismo Genético , Densidad de Población , Dinámica Poblacional
16.
Oncogene ; 25(17): 2468-76, 2006 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-16331257

RESUMEN

Cyclin D3 has been shown to play a major role in the regulation of cell cycle progression in lymphocytes. It is therefore important to understand the mechanisms involved in the regulation of this protein. We have previously shown that both basal and cAMP-induced degradation of cyclin D3 in Reh cells is dependent on Thr-283 phosphorylation by glycogen synthase kinase-3beta (GSK-3beta). We now provide evidence of an alternative mechanism being involved in the regulation of cyclin D3 degradation. Treatment of lymphoid cells with okadaic acid (OA), an inhibitor of protein phosphatases 1 and 2A (PP1 and PP2A), induces rapid phosphorylation and proteasomal degradation of cyclin D3. This degradation is not inhibited by the GSK-3beta inhibitors lithium or Kenpaullone, or by substitution of Thr-283 with Ala on cyclin D3, indicating that cyclin D3 can be degraded independently of Thr-283 phosphorylation and GSK-3beta activity. Interestingly, in vitro experiments revealed that PP1, but not PP2A, was able to dephosphorylate cyclin D3 efficiently, and PP1 was found to associate with His-tagged cyclin D3. These results support the hypothesis that PP1 constitutively keeps cyclin D3 in a stable, dephosphorylated state, and that treatment of cells with OA leads to phosphorylation and degradation of cyclin D3 through inhibition of PP1.


Asunto(s)
Linfocitos B , Ciclinas/metabolismo , Leucemia Linfoide/metabolismo , Complejo de la Endopetidasa Proteasomal/metabolismo , Treonina/metabolismo , Secuencia de Aminoácidos , Linfocitos B/metabolismo , Linfocitos B/patología , Ciclina D3 , Inhibidores Enzimáticos/farmacología , Glucógeno Sintasa Quinasa 3/antagonistas & inhibidores , Glucógeno Sintasa Quinasa 3/metabolismo , Glucógeno Sintasa Quinasa 3 beta , Humanos , Datos de Secuencia Molecular , Ácido Ocadaico/farmacología , Fosfoproteínas Fosfatasas/metabolismo , Fosforilación/efectos de los fármacos , Treonina/química , Treonina/genética , Células Tumorales Cultivadas
17.
Clin Anat ; 18(3): 179-85, 2005 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15768422

RESUMEN

Lack of knowledge of the anatomy of the cervical sympathetic trunk (CST) may complicate surgical procedures on the cervical spine. This study aims to define linear and angular relations of the CST with respect to consistent structures around it, including the number and size of the cervical ganglia, the distances between the CST and the longus colli muscle and the anterior tubercles of the transverse processes of cervical vertebrae. Morphometric parameters of the 24 CSTs of 12 adults were measured on both sides. The CST had superior, middle, and inferior (or cervicothoracic) ganglia in 20.8% of specimens; superior and inferior (or cervicothoracic) ganglia in 45.8%; superior, middle, vertebral, inferior, or cervicothoracic ganglia in 12.5%, and superior, vertebral, inferior or cervicothoracic ganglia in 20.8% of specimens. The superior ganglion was observed in all specimens, the middle ganglion and vertebral ganglion were each observed in 33.3%. There was no difference between the number of superior and vertebral ganglia between the right and left sides. The average distance between the CST and the medial border of the ipsilateral longus colli muscle (LCM) was 17.2 mm at C3 and 12.4 mm at C7. As the CSTs converged caudally, the LCMs diverged. The average distance between the anterior tubercles of transverse processes of the cervical vertebrae and the lateral borders of the ipsilateral CST was 3.4 mm at C4, 3.2 mm at C5, and 3.9 mm at C6. The presence of a vertebral ganglion and variations, such as the localization of the CST within the carotid sheath, are important. The anatomical landmarks described should assist the spinal surgeon to avoid injury of the CST.


Asunto(s)
Ganglio Cervical Superior/anatomía & histología , Adulto , Pesos y Medidas Corporales , Cadáver , Vértebras Cervicales/anatomía & histología , Disección , Humanos , Nervios Espinales/anatomía & histología , Ganglio Cervical Superior/cirugía
18.
Acta Neurochir (Wien) ; 146(10): 1099-105; discussion 1105, 2004 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-15309581

RESUMEN

BACKGROUND: Cervical corpectomy is a common spinal surgery procedure used to decompress the spinal cord in numerous degenerative, traumatic and neoplastic conditions. The aim of this study was to investigate the indications, complications and outcomes in past cervical corpectomy cases at one centre. METHOD: 72 patients who underwent cervical corpectomy between February 1992 and June 2001 were retrospectively investigated. FINDINGS: The indications for this operation were degenerative spondylitic disease (26 cases; 36.1%), trauma (18 cases; 25%), tumour (11 cases; 15.3%), infection (10 cases; 13.9%), and ossification of the posterior longitudinal ligament (7 cases; 9.7%). Thirty-seven patients (51.4%) underwent one-level corpectomy, and 35 (48.6%) underwent two-level corpectomy. Autografts were used in 13 cases (18.1%) and allografts were used in 59 cases (81.9%). Anterior plate-screw fixation was performed in all cases. There were 31 postoperative complications in 15 (20.8%) patients. Twelve of the complications were surgical, 5 were graft-related, 7 were plating-related, and 7 were medical. Solid bony fusion was achieved in 65 (92.9%) of the 70 surviving patients. The mean follow-up time was 23.4 months. An overall favourable outcome was achieved in 88% of cases. CONCLUSION: The outcomes in this series indicate that cervical corpectomy is an effective method for treating traumatic lesions, degenerative disease, tumours and infectious processes involving the anterior and middle portions of the cervical spine.


Asunto(s)
Vértebras Cervicales/patología , Vértebras Cervicales/cirugía , Descompresión Quirúrgica/estadística & datos numéricos , Evaluación de Resultado en la Atención de Salud/estadística & datos numéricos , Complicaciones Posoperatorias/etiología , Compresión de la Médula Espinal/patología , Compresión de la Médula Espinal/cirugía , Neoplasias de la Médula Espinal/complicaciones , Adulto , Anciano , Placas Óseas/normas , Trasplante Óseo/normas , Trasplante Óseo/estadística & datos numéricos , Vértebras Cervicales/fisiopatología , Descompresión Quirúrgica/instrumentación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mielitis/microbiología , Mielitis/cirugía , Osificación del Ligamento Longitudinal Posterior/complicaciones , Osificación del Ligamento Longitudinal Posterior/cirugía , Complicaciones Posoperatorias/patología , Complicaciones Posoperatorias/fisiopatología , Estudios Retrospectivos , Compresión de la Médula Espinal/etiología , Traumatismos de la Médula Espinal/complicaciones , Traumatismos de la Médula Espinal/cirugía , Neoplasias de la Médula Espinal/cirugía , Fusión Vertebral/efectos adversos , Fusión Vertebral/instrumentación , Fusión Vertebral/estadística & datos numéricos , Osteofitosis Vertebral/complicaciones , Osteofitosis Vertebral/cirugía , Turquía
19.
J Spinal Disord ; 14(6): 500-3, 2001 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11723399

RESUMEN

Several diseases may cause craniovertebral instability warranting occiput-cervical fusion. As occipital screw and rod constructs are becoming more popular, requiring that screws be placed either medially or laterally in the occipital bone, the need for clearer anatomical and computed tomography (CT)-confirmed data regarding the relative thickness of the occiput in its various localities has become more critical. In 18 cadaveric specimens, the occipital bone was divided into 35 measurable segments. Transversely, the occipital bone was divided into five lines starting at the level of the inion; horizontal lines then proceeded inferiorly in 1-cm segments, 1, 2, 3, and 4 cm below the level of inion. In a comparable fashion, the occipital bone was divided vertically, starting at the midline, and proceeding laterally also in 1-, 2-, and 3-cm segments. Anatomical measurements of thickness were directly performed using a Vernier caliper. Results were directly correlated with axial CT measurements of bony thickness. Anatomical and CT measurements closely correlated within the same specimen, but there was significant interspecimen variability. The marked differences in the occipital bone anatomy noted between specimens indicates that patients undergoing occipital screw placement for cranial-cervical instability would benefit from preoperative occipital CT evaluations.


Asunto(s)
Hueso Occipital/anatomía & histología , Hueso Occipital/diagnóstico por imagen , Cadáver , Humanos , Radiografía
20.
Clin Neurol Neurosurg ; 103(4): 247-9, 2001 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11714573

RESUMEN

Spinal ossified meningiomas are extremely rare. This is a report of a study on a 15-year-old boy with thoracic spinal ossified meningioma. The meningioma was resected totally. Histopathological examination revealed a transitional meningioma (psammomatous+meningothelial). Immunohistochemically, Ki 67 antibody was applied but no positive staining was present. The surgical and pathological aspects of spinal ossified meningiomas were reviewed.


Asunto(s)
Neoplasias Meníngeas/patología , Meningioma/patología , Osificación Heterotópica/patología , Adolescente , Humanos , Inmunohistoquímica , Antígeno Ki-67/análisis , Imagen por Resonancia Magnética , Masculino , Neoplasias Meníngeas/complicaciones , Neoplasias Meníngeas/cirugía , Meningioma/complicaciones , Meningioma/cirugía , Paraplejía/etiología , Vértebras Torácicas
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