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1.
Int J Oral Maxillofac Surg ; 51(12): 1530-1534, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35279335

ABSTRACT

Primordial odontogenic tumour (POT) is a relatively newly described entity with well-defined clinicopathological features. Since its initial description in 2014, 22 cases of POT have been reported in the literature. Only five cases of POT have arisen in the maxilla. This article describes an additional patient with a POT of the maxilla and provides a review of the literature on POT.


Subject(s)
Maxilla , Odontogenic Tumors , Humans , Maxilla/pathology , Odontogenic Tumors/diagnostic imaging , Odontogenic Tumors/surgery , Odontogenic Tumors/pathology
2.
Arch Virol ; 165(12): 3003-3006, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33025198

ABSTRACT

A significant number of new members of the genus Vitivirus have been identified recently, mainly due to the advent of high-throughput sequencing (HTS). Grapevine virus I (GVI), which was identified in New Zealand in 2018, is one of these viruses. RNAseq HTS analysis of a Greek grapevine (cv. Daphnia), revealed the presence of a GVI-like isolate (D2-1/19). Sequence analysis confirmed the classification of D2-1/19 as GVI. However, both sequence and phylogenetic data exhibited high levels of variability between D2-1/19 and the previously characterized GVI isolates. This study provides the full-length sequence of a divergent GVI isolate, adding knowledge to the limited information available about this recently identified virus.


Subject(s)
Flexiviridae/genetics , Genome, Viral , Phylogeny , Vitis/virology , Flexiviridae/isolation & purification , Greece , High-Throughput Nucleotide Sequencing , Plant Diseases/virology , Whole Genome Sequencing
3.
Eur Rev Med Pharmacol Sci ; 23(21): 9135-9149, 2019 Nov.
Article in English | MEDLINE | ID: mdl-31773664

ABSTRACT

OBJECTIVE: We aimed to investigate the impact of the toxicological results found in cases of sudden death (SD) and to correlate the clinical, autopsy and genetic findings with the toxicology results. MATERIALS AND METHODS: Consecutive SD in people aged between 16 and 50 years with medico-legal autopsies and toxicology studies were included over a 3-year period. The comparison between the toxicological data and demographic characteristics, clinical circumstances, autopsy, and genetic results were taken into account. RESULTS: 101 cases were finally included. They were predominately males (84%) and the mean age was 39.8 years. 52 (51.5%) cases had positive toxicological findings and in 25 cases (24.8%), toxic compounds were considered the first cause of death. Ethanol was the most frequently identified agent (69%), following by licit drugs (56%) and drugs of abuse (39%). Cases with positive toxicology were younger than those with negative results (37.9±9.1 vs. 41.9±7.8; p=0.02). Patients with more than 3 comorbidities showed an association with positive toxicological results (n=14 vs. n=3; p=0.017). The genetic study was performed in 70 (69.3%) SD cases. We identified pathogenic or likely pathogenic variants in 17.1% cases and uncertain significance variants in 42.8% cases. 58% of these variants were probably related to the cause of death. CONCLUSIONS: A large fraction of SD victims had positive toxicological findings and a quarter of deaths were directly caused by toxic substances. The identification of the factors that trigger SD provides a good approach to contribute in avoiding future episodes.


Subject(s)
Cause of Death , Death, Sudden/epidemiology , Toxicology/statistics & numerical data , Adolescent , Adult , Female , Humans , Male , Middle Aged , Spain/epidemiology , Young Adult
4.
Food Res Int ; 120: 553-559, 2019 06.
Article in English | MEDLINE | ID: mdl-31000271

ABSTRACT

Seventy-two exudates from pork tenderloin samples, subjected to E-beam irradiation treatments, have been employed to monitor, through 1H NMR analysis, the effects of irradiation dose (0, 1, 2 and 6 kGy) and storage time (1, 6 and 12 days). As far as we know, this is the first study where meat exudate is employed to monitor the effects of irradiation dose and storage time. The 1H NMR spectra, obtained after ~ 2 min, allowed to determine the main components of the pork exudate. Results show that 1H NMR-based metabolomics provides valuable information about the metabolic changes suffered during storage and how these transformations could be affected by E-beam irradiation treatment. The ease to obtain exudates, the simple NMR sample preparation, the good correlation between the selected metabolites, the irradiation treatment and the storage times point to that this study could be the first step to develop a new method for analysis and control of meat conservation and to evaluate its irradiation treatment.


Subject(s)
Food Irradiation , Food Storage , Magnetic Resonance Spectroscopy/methods , Meat/analysis , Metabolomics/methods , Animals , Food Safety , Metabolome , Swine
5.
Meat Sci ; 148: 171-180, 2019 Feb.
Article in English | MEDLINE | ID: mdl-30388482

ABSTRACT

Magnetic resonance imaging (MRI) was used to study the structural changes during dry-cured ham manufacturing. T1, T2 and apparent diffusion coefficient (ADC) were determined. Dry cured hams were analysed at different steps of the manufacturing process (raw, salted, post salted, half-cured and cured). Structural changes were linked with the rheological behaviour, estimated by texture profile analysis (TPA) performed in three different muscles of hams (semimembranosus, semitendinosus and biceps femoris). A decrease for T1, T2 and ADC parameters during the curing process was observed, connected to the dehydration kinetics and salt diffusion. Curing process increased hardness and chewiness and reduced elasticity and cohesiveness. Mathematical models were defined to obtain useful equations to monitor ripening. Multiple and simple linear regression models were performed to predict water and salt content and rheological features evolution through MRI parameters. Best settings were achieved with water and salt content for the three studied muscles (R2 around 0.90). T1, T2 and ADC showed a negative correlation with hardness and a positive relation with springiness and cohesiveness.


Subject(s)
Food Handling/methods , Magnetic Resonance Imaging/methods , Red Meat/analysis , Animals , Food Preservation/methods , Hamstring Muscles/chemistry , Sodium Chloride, Dietary , Sus scrofa , Water
7.
Rev Esp Quimioter ; 30(6): 450-457, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29115369

ABSTRACT

OBJECTIVE: The aim of this study is to know epidemiologic and clinical differences among those patients colonized or infected by carbapenemase-producing Enterobacteriaceae (CPE) and develop a predictive model to facilitate the clinical approach concerning to start antimicrobial therapy. METHODS: Observational retrospective cohort study was performed involving all patients with Urine carbapenemase-producing Enterobacteriaceae isolation (UCPEI) between November 2013 and July 2015. Patients were classifieds as colonized or infected considering Center for Disease Control and Prevention (CDC) definition for urinary tract infection (UTI). RESULTS: A total of 72 patients were included, mean age 76.4 (IQR 23-99) years and 40 (55.6%) were women. Thirty-four (47.2%) were colonized and 38 (52.8%) met the criteria of UTI and were considered infected. The independent variables associated to infection were female sex, peripheral vascular disease, admission in medical ward, permanent urinary catheter carrier, previous antimicrobial therapy, and length of stay. Isolation of OXA-48 carbapenemase-producing Enterobacteriaceae behaved as a non UTI (colonization) factor in comparison with KPC or VIM CPE. The developed predictive model showed an area under the curve (AUC) of 0.901 (95% CI: 0.832-0.970; p < 0.001). CONCLUSIONS: The predictive model that includes all this factors has demonstrated a good accuracy for infection diagnosis in these patients, an important issue considering that establishing the diagnosis of infection is not always easy in the profile of patients in which a CPE is isolated.


Subject(s)
Bacterial Proteins/metabolism , Carbapenem-Resistant Enterobacteriaceae/enzymology , Carbapenem-Resistant Enterobacteriaceae/genetics , Enterobacteriaceae Infections/enzymology , Enterobacteriaceae Infections/urine , Urinary Tract Infections/enzymology , Urinary Tract Infections/urine , beta-Lactamases/metabolism , Adult , Aged , Aged, 80 and over , Anti-Bacterial Agents/therapeutic use , Cohort Studies , Colony Count, Microbial , Drug Resistance, Bacterial , Enterobacteriaceae Infections/diagnosis , Female , Humans , Male , Middle Aged , Retrospective Studies , Sex Factors , Urinary Tract Infections/diagnosis , Vascular Diseases/complications , Vascular Diseases/epidemiology , Young Adult
8.
Br J Dermatol ; 177(6): 1654-1663, 2017 12.
Article in English | MEDLINE | ID: mdl-28627087

ABSTRACT

BACKGROUND: A variety of genodermatoses with multiple cutaneous tumours and germline genetic alterations, such as PTCH1 mutations, have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis. OBJECTIVES: To describe the clinical, dermoscopic and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas (ICBCCs) and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis. In addition, we tested for possible germline alterations in FGFR3 and PTCH1. METHODS: Ten members of one family were clinically examined and 92 skin biopsy specimens were evaluated. Blood samples from six individuals were analysed for FGFR3 and PTCH1 germline alterations. We reviewed the literature concerning genetic FGFR3 alterations in seborrhoeic keratosis. RESULTS: Individuals of all generations affected by familial seborrhoeic keratosis also presented other skin tumours that corresponded histologically to reticulated acanthomas without apocrine or sebaceous differentiation, as well as ICBCCs. In addition, two novel germline variants, p.Pro449Ser (c.1345C>T) in FGFR3 and p.Pro725Ser (c.2173C>T) in exon 14 of PTCH1 were identified in five participants. CONCLUSIONS: We characterize for the first time the clinical, dermoscopic and histopathological features of multiple reticulated acanthomas without apocrine or sebaceous differentiation, for which we propose the term 'pure reticulated acanthoma', and ICBCCs associated with familial seborrhoeic keratosis. We identified FGFR3 and PTCH1 germline polymorphisms whose influence in the development of reticulated acanthomas is unknown.


Subject(s)
Acanthoma/genetics , Carcinoma, Basal Cell/genetics , Keratosis, Seborrheic/genetics , Patched-1 Receptor/genetics , Receptor, Fibroblast Growth Factor, Type 3/genetics , Skin Neoplasms/genetics , Acanthoma/pathology , Aged , Carcinoma, Basal Cell/pathology , Dermoscopy , Female , Germ-Line Mutation/genetics , Humans , Keratosis, Seborrheic/pathology , Male , Middle Aged , Pedigree , Polymorphism, Genetic/genetics , Skin Neoplasms/pathology
9.
Rev Esp Quimioter ; 29 Suppl 1: 1-5, 2016 Sep.
Article in Spanish | MEDLINE | ID: mdl-27608304

ABSTRACT

Antimicrobial resistance increases it health, social and economic impact. in all areas (state, regional and local), initiatives to try to contain the problem of resistance arise. In the update of this year 2016, we study microbiological, epidemiological and clinical aspects of multi-resistant bacteria, as well as resources for therapeutic approach, from ancient to modern drugs from therapeutic combinations to optimization Stewardship programs. In the case of fungal infection, we analyze clinical scenarios with different species in yeast or new clinical settings in filamentous fungi. Taking paediatric population, homologies and differences with adults in invasive fungal infection were compared. Finally in the field of parasitology, treatment of severe malaria imported or that resistant to antimalarial drugs were reviewed.


Subject(s)
Communicable Diseases/therapy , Infectious Disease Medicine/trends , Bacterial Infections/microbiology , Bacterial Infections/therapy , Communicable Diseases/microbiology , Humans , Mycoses/microbiology , Mycoses/therapy , Parasitic Diseases/microbiology , Parasitic Diseases/therapy
10.
BMC Vet Res ; 12: 43, 2016 Mar 02.
Article in English | MEDLINE | ID: mdl-26935209

ABSTRACT

BACKGROUND: Infection with Mycobacterium avium subspecies paratuberculosis (MAP) has been associated with reductions in milk production in dairy cows and sub optimal fertility. The aim of this study was to highlight the production losses associated with testing MAP ELISA positive in Irish dairy cows. Secondary objectives included investigation of risk factors associated with testing MAP ELISA positive. A survey of management practices on study farms was also conducted, with examination of associations between management practices and herd MAP status. Blood samples were collected from 4188 breeding animals on 22 farms. Samples were ELISA tested using the ID Screen Paratuberculosis Indirect Screening Test. Production parameters examined included milk yield, milk fat, milk protein, somatic cell count, and calving interval. The association between MAP ELISA status and production data was investigated using multi-level mixed models. Logistic regression was used to identify risk factors for testing JD blood ELISA positive at individual cow level and to identify associations between farm management practices and herd MAP status. RESULTS: Data were available for 3528 cows. The apparent prevalence recorded was 7.4%. Mixed model analysis revealed no statistically significant association between testing MAP ELISA positive and dairy cow production parameters. Risk factors associated with testing positive included larger sized herds being over twice more likely to test positive than smaller herds (OR 2.4 P = <0.001). Friesians were less likely to test positive relative to other breeds. A number of study farmers were engaged in management practices that have previously been identified as high risk for MAP transmission e.g., 73.1% pooled colostrum and 84.6% of study farmers used the calving area to house sick animals throughout the year. No significant associations however, were identified between farm management practices and herd MAP status. CONCLUSION: No production losses were identified; however an apparent prevalence of 7.4% was recorded. With the abolition of EU milk quotas herd size in Ireland is expanding, as herds included in this study were larger than the national average, results may be indicative of future JD levels if no JD control programmes are implemented to minimise transmission.


Subject(s)
Cattle , Dairying , Paratuberculosis/diagnosis , Animals , Dairying/organization & administration , Enzyme-Linked Immunosorbent Assay/veterinary , Female , Ireland/epidemiology , Male , Milk , Paratuberculosis/epidemiology , Paratuberculosis/physiopathology
11.
J Dairy Sci ; 98(8): 5019-39, 2015 Aug.
Article in English | MEDLINE | ID: mdl-26074241

ABSTRACT

Paratuberculosis (also called Johne's disease) is a chronic disease caused by Mycobacterium avium ssp. paratuberculosis (MAP) that affects ruminants and other animals. The epidemiology of paratuberculosis is complex and the clinical manifestations and economic impact of the disease in cattle can be variable depending on factors such as herd management, age, infection dose, and disease prevalence, among others. Additionally, considerable challenges are faced in the control of paratuberculosis in cattle, such as the lack of accurate and reliable diagnostic tests. Nevertheless, efforts are directed toward the control of this disease because it can cause substantial economic losses to the cattle industry mainly due to increased premature culling, replacement costs, decreased milk yield, reduced feed conversion efficiency, fertility problems, reduced slaughter values, and increased susceptibility to other diseases or conditions. The variability and uncertainty surrounding the estimations of paratuberculosis prevalence and impact influence the design, implementation, and efficiency of control programs in diverse areas of the world. This review covers important aspects of the economic impact and control of paratuberculosis, including challenges related to disease detection, estimations of the prevalence and economic effects of the disease, and the implementation of control programs. The control of paratuberculosis can improve animal health and welfare, increase productivity, reduce potential market problems, and increase overall business profitability. The benefits that can derive from the control of paratuberculosis need to be communicated to all industry stakeholders to promote the implementation of control programs. Moreover, if the suspected link between Johne's disease in ruminants and Crohn's disease in humans was established, significant economic losses could be expected, particularly for the dairy industry, making the control of this disease a priority across dairy industries internationally.


Subject(s)
Cattle Diseases/economics , Cattle Diseases/prevention & control , Mycobacterium avium subsp. paratuberculosis/physiology , Paratuberculosis/economics , Paratuberculosis/prevention & control , Animals , Cattle , Cattle Diseases/epidemiology , Cattle Diseases/microbiology , Paratuberculosis/epidemiology , Paratuberculosis/microbiology , Prevalence , Risk Factors
12.
J Pediatr Orthop B ; 24(3): 219-22, 2015 May.
Article in English | MEDLINE | ID: mdl-25647568

ABSTRACT

Supracondylar fractures of the humerus are the most common type of elbow fractures in children. Nonunion of the lateral condyle, cubitus varus, cubitus valgus, fishtail deformity, or growth disorders, including premature physeal arrest or even avascular necrosis, are uncommon but important complications. However, transient osteochondrosis of the capitellum after a supracondylar fracture has been reported in only two cases in the literature. We report our experience of transient osteochondrosis of the capitellum in a 5-year-old boy after conservative treatment with cast immobilization for a nondisplaced supracondylar fracture of the distal humerus with 8 years of follow-up. Serial radiography of both the injured and the contralateral elbows were performed, which enabled monitoring of the evolution of the transient osteochondrosis. No specific treatment was provided because there was no evidence of acute complication or of a progressing deformity. The patient had gained full range of motion of the elbow without pain by 6 weeks of follow-up. At 5 years after the fracture, the ossification center of the capitellum was restored to its normal size and shape. There was no evidence of growth disturbances in this case. This case report is an uncommon case of transient osteochondrosis of the capitellum in the distal humerus after conservative treatment for nondisplaced supracondylar fractures in children. The evolution of this entity is good and it is managed by conservative treatment.


Subject(s)
Fracture Fixation/trends , Humeral Fractures/complications , Humeral Fractures/diagnostic imaging , Osteochondrosis/diagnostic imaging , Osteochondrosis/etiology , Child, Preschool , Follow-Up Studies , Humans , Humeral Fractures/therapy , Male , Radiography
13.
Epidemiol Infect ; 143(11): 2381-9, 2015 Aug.
Article in English | MEDLINE | ID: mdl-25471550

ABSTRACT

Consumption of poultry meat is considered as one of the main sources of human campylobacteriosis, and there is clearly a need for new surveillance and control measures based on quantitative data on Campylobacter spp. colonization dynamics in broiler chickens. We conducted four experimental infection trials, using four isolators during each infection trial to evaluate colonization of individual broiler chickens by Campylobacter jejuni over time. Individual and pooled faecal samples were obtained at days 4, 7 and 12 post-inoculation (p.i.) and caecal samples at day 12 p.i. There were large differences between broiler chickens in the number of C. jejuni in caecal and faecal material. Faecal samples of C. jejuni ranged from 4·0 to 9·4 log c.f.u./g and from 4·8 to 9·3 log c.f.u./g in the caeca. Faecal c.f.u./g decreased with time p.i. Most variation in c.f.u. for faecal and caecal samples was attributed to broiler chickens and a minor part to isolators, whereas infection trials did not affect the total variance. The results showed that pooled samples within isolators had lower c.f.u./g compared to the arithmetic mean of the individual samples. There was a significant correlation between faecal c.f.u./g at days 4 and 7 p.i., days 7 and 12 p.i. and for caecal and faecal c.f.u./g at day 12 p.i.


Subject(s)
Campylobacter Infections/veterinary , Campylobacter jejuni/isolation & purification , Carrier State , Cecum/microbiology , Chickens/microbiology , Feces/microbiology , Poultry Diseases/microbiology , Animals , Campylobacter/isolation & purification , Linear Models , Time Factors
14.
Eur J Obstet Gynecol Reprod Biol ; 175: 38-48, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24560718

ABSTRACT

Congenital vesicovaginal fistula (CVVF) is a rare, complex female genital malformation that is difficult to diagnose, classify and treat. Symptoms include menouria, cyclical haematuria and urinary incontinence from birth. The aim of this review was to highlight the importance of correct diagnosis and treatment of this congenital anomaly. A comprehensive literature review was conducted to identify articles on CVVF with and without menouria. Forty-one articles were found, of which 31 described 37 original cases of congenital fistula (30 CVVF, six uterovesical fistula and one urethrovaginal fistula): 14 in girls and 23 in adults. The cases were classified according to clinical, diagnostic and therapeutic parameters in order to unify concepts and terms. Menouria occurred in 21 of the 23 adults: 14 cases were CVVF, six cases were congenital uterovesical fistula, and one case was congenital urethrovaginal fistula in a young woman without congenital adrenal hyperplasia. Sixteen (53%) of the 30 patients with CVVF had urinary incontinence or hydrocolpometra, and 14 (47%) had menouria. There were associated anomalies in 91% of cases, 29 (48%) of which involved the urinary tract. Various diagnostic and therapeutic methods were used, and there was confusion surrounding the aetiopathogenesis in most cases. CVVF should be suspected in any girl with urinary incontinence, urinary tract infections from birth, vaginal swelling or hydrocolpometras, as well as in adults with menouria. Diagnosis should be based on physical examination and imaging (cystoscopy during menouria, ultrasound and magnetic resonance imaging). Surgical treatment should be based on correction of the vaginal defects (obstructive problem opening or vaginal reconstruction) and CVVF closure. The embryological origin of CVVF lies in the abnormal persistence of the urogenital sinus due to lack of formation and caudal growth of the urogenital wedge, combined with distinct degrees of agenesis or hypoplasia of the entire urogenital ridge or the mesonephric ducts (which affects development of the Müllerian ducts).


Subject(s)
Vesicovaginal Fistula/congenital , Female , Humans , Menstruation Disturbances/etiology , Vesicovaginal Fistula/complications , Vesicovaginal Fistula/diagnosis , Vesicovaginal Fistula/therapy
15.
Vox Sang ; 103(4): 309-21, 2012 Nov.
Article in English | MEDLINE | ID: mdl-22624696

ABSTRACT

BACKGROUND AND OBJECTIVES: Transfusion-related acute lung injury (TRALI) is characterized by leukocyte transmigration and alveolar capillary leakage shortly after transfusion. TRALI pathogenesis has not been fully elucidated. In some cases, the infusion of alloantibodies (immune model), whereas in others the combination of neutrophil priming by proinflammatory molecules with the subsequent infusion of biological response modifiers (BRMs) in the hemocomponent (non-immune model) have been implicated. Our aim was to compare the pathological events involved in TRALI induced by antibodies or BRMs using murine models. MATERIALS AND METHODS: In the immune model, human HNA-2(+) neutrophils were incubated in vitro with a monoclonal antibody (anti-CD177, clone 7D8) directed against the HNA-2 antigen and injected i.v. in NOD/SCID mice. In the non-immune model, BALB/c mice were treated with low doses of lipopolysaccharide (LPS) followed by platelet-activating factor (PAF) infusion 2 h later. Forty minutes after PAF administration, or 6 h after neutrophil injection, lungs were isolated and histological analysis, determination of a variety of cytokines and chemokines including keratinocyte-derived chemokine (KC), MIP-2, the interleukins IL-1ß, IL-6, IL-8 as well as TNFα, cell influx and alveolar capillary leakage were performed. RESULTS: In both models, characteristic histological findings of TRALI and an increase in KC and MIP-2 levels were detected. In contrast to the immune model, in the non-immune model, there was a dramatic increase in IL-1ß and TNFα. However, capillary leakage was only detected if PAF was administrated. CONCLUSIONS: Regardless of the triggering event(s), KC, MIP-2 and integrins participate in TRALI pathogenesis, whereas PAF is essential for capillary leakage when two events are involved.


Subject(s)
Acute Lung Injury/immunology , Acute Lung Injury/pathology , Transfusion Reaction , Acute Lung Injury/etiology , Animals , Chemokines/immunology , Disease Models, Animal , Humans , Male , Mice , Mice, Inbred BALB C , Mice, Inbred NOD , Mice, SCID , Neutrophils/immunology , Neutrophils/pathology
16.
Res Vet Sci ; 93(3): 1185-9, 2012 Dec.
Article in English | MEDLINE | ID: mdl-22513128

ABSTRACT

Regarded as an incidental finding, biliary sludge is often diagnosed in dogs on abdominal ultrasound. The aims of the present study were to assess the risk factors, biochemical markers and ultrasonographic findings and to estimate the prevalence and influence of different breeds, sexes, and ages on biliary sludge in dogs. Results demonstrate that the prevalence of biliary sludge is high, especially in senior dogs. The biochemical markers did not have a significant correlation with biliary sludge, and the type of diet was not considered to be the major risk factor. Hepatomegaly was frequently observed on the ultrasound scan of affected animals and of dogs on different systemic drugs and with cardiopathies, which have been referred to as risk groups for the development of inspissated bile.


Subject(s)
Bile/diagnostic imaging , Dog Diseases/pathology , Animals , Biliary Tract Diseases/diagnostic imaging , Biliary Tract Diseases/veterinary , Dog Diseases/blood , Dog Diseases/diagnostic imaging , Dog Diseases/metabolism , Dogs , Female , Male , Risk Factors , Ultrasonography
17.
Int Urol Nephrol ; 42(4): 1099-102, 2010 Dec.
Article in English | MEDLINE | ID: mdl-20931281

ABSTRACT

A 45-year-old woman presented with phenotypical features suggestive of Gitelman syndrome (adult age at diagnosis, normal-low blood pressure, hypokalaemia, metabolic alkalosis, hypomagnesaemia, and hypocalciuria). Mutational analysis revealed no significant abnormality in SLC12A3 gene, but homozygous p.A204T mutation was found in the CLCNKB gene. This is a founder effect mutation described in Spanish patients with classic and atypical Bartter syndrome. This report confirms previous descriptions and expands the clinical spectrum of this mutation.


Subject(s)
Chloride Channels/genetics , Gitelman Syndrome/genetics , Female , Humans , Middle Aged , Mutation
18.
Prev Vet Med ; 95(1-2): 99-107, 2010 Jun 01.
Article in English | MEDLINE | ID: mdl-20381181

ABSTRACT

Campylobacter species have been identified as the major cause of acute bacterial enteritis in the UK. However, the epidemiology of campylobacteriosis remains poorly understood. It has been suggested that the role of sheep in the epidemiology of Campylobacter has been underestimated. The objective of the present study was to assess the infection risk of Campylobacter in sheep meat as a potential risk for human campylobacteriosis and to establish any possible associations between the epidemiological factors considered in the study and the presence of Campylobacter on lamb carcases. The prevalence of Campylobacter obtained from faecal samples and swabs from fleeces and carcases was presented in a previous paper. Epidemiological data was collected through questionnaires in order to identify risk factors for the presence of Campylobacter on the carcases and to make recommendations, based on the results obtained, to prevent human campylobacteriosis.


Subject(s)
Abattoirs , Campylobacter Infections/veterinary , Food Contamination/prevention & control , Meat/microbiology , Sheep Diseases/epidemiology , Animals , Campylobacter/isolation & purification , Campylobacter Infections/epidemiology , Campylobacter Infections/prevention & control , Campylobacter Infections/transmission , Food Contamination/analysis , Food Microbiology , Humans , Logistic Models , Risk Assessment , Risk Factors , Scotland/epidemiology , Sheep , Sheep Diseases/prevention & control , Sheep Diseases/transmission , Zoonoses
19.
Eur J Clin Invest ; 40(2): 89-94, 2010 Feb.
Article in English | MEDLINE | ID: mdl-20015244

ABSTRACT

BACKGROUND: Few data are available on circulating mononuclear cells nuclear factor-kappa B (NF-kB) activity and plasma xanthine oxidase (XO) activity in heterozygous familial hypercholesterolaemia (FH). The goal of the study was to analyse circulating mononuclear cells NF-kB and plasma XO activities in FH patients. MATERIALS AND METHODS: Thirty FH index patients and 30 normoglycaemic normocholesterolaemic controls matched by age, gender, body mass index, abdominal circumference and homeostasis model assessment index were studied. Plasma XO and inflammatory markers were measured by standard methods. NF-kB was assayed in circulating mononuclear cells. RESULTS: Familial hypercholesterolaemia patients showed a significantly higher NF-kB (75.0 +/- 20.7 vs. 42.7 +/- 16.8 relative luminiscence units) and XO (0.44 +/- 0.13 vs. 0.32 +/- 0.09 mU mL(-1)) activities than controls. In addition, interleukin-1, interleukin-6, high sensitivity C reactive protein (hsCRP) and oxidized LDL (LDL-ox) were also significantly higher in FH patients. In the total group (FH and controls), XO was significantly associated with LDL-cholesterol (LDL-C), apolipoprotein B (apoB), NF-kB and hsCPR, and NF-kB activity was significantly associated with XO, hsCPR, LDL-ox, LDL-C and apoB plasma values. Using multiple regression analysis, XO was independently associated with hsCPR and NF-kB, and NF-kB activity in circulating mononuclear cells was independently associated with apoB and LDL-ox plasma values. CONCLUSION: Familial hypercholesterolaemia patients show increased activities of NF-kB and XO, and higher values of low grade inflammatory markers related to atherosclerosis. NF-kB activity was independently associated with apoB plasma values. These data could explain in part the high cardiovascular disease risk present in these patients.


Subject(s)
Hyperlipoproteinemia Type II/blood , Inflammation/blood , NF-kappa B/blood , Xanthine Oxidase/blood , Adult , Biomarkers/blood , Cardiovascular Diseases/blood , Female , Humans , Hyperlipoproteinemia Type II/metabolism , Inflammation/complications , Interleukin-1/blood , Interleukin-6/blood , Lipoproteins/blood , Male , Middle Aged , Monocytes/metabolism , NF-kappa B/metabolism , Regression Analysis , Risk , Xanthine Oxidase/metabolism
20.
An. pediatr. (2003, Ed. impr.) ; 71(3): 230-234, sept. 2009. graf, tab
Article in Spanish | IBECS | ID: ibc-72454

ABSTRACT

El metotrexato es un antineoplásico muy utilizado y eficaz en neoplasias como las leucemias, los linfomas y los osteosarcomas. La toxicidad renal es un efecto secundario indeseable que se pretende evitar con una alcalinización urinaria e hiperhidratación eficaz. En caso de intoxicación aguda se establece el uso de carboxipeptidasa G2, una enzima que provoca la hidrólisis del metotrexato en sus metabolitos inactivos. Por su parte, el uso de glutamina durante el tratamiento oncológico previene parte de los efectos indeseables secundarios a éste. Se presenta el caso clínico de un adolescente afectado de linfoma no hodgkiniano en tratamiento con glutamina, que tras la administración de un tercer ciclo de metotrexato (5g/m2) presentó un cuadro de insuficiencia renal que precisó la administración de carboxipeptidasa, con descenso no satisfactorio de las concentraciones de metotrexato en sangre, si bien no se pudo diferenciar la fracción activa del metabolito inactivo por carecer de esta técnica en España. Se revisó la bibliografía sobre la interacción de glutamina y metotrexato y se discutió su fisiopatología sobre un posible papel de la glutamina como favorecedora de la toxicidad por metotrexato (AU)


Methotrexate (MTX) is widely used as anticancer agent in various malignancies, including acute lymphoblastic leukaemia, lymphoma and osteosarcoma. High doses of MTX may cause acute renal dysfunction. Nephrotoxicity is prevented by the use of alkalinization and hydration. More recently Carboxypeptidase-G2, a recombinant bacterial enzyme that rapidly hydrolyzes MTX to inactive metabolites, has become available for the treatment of acute nephrotoxicity. On the other hand, glutamine is usually administered in oncology treatments to avoid other side effects. We report a case of an adolescent who was diagnosed with T lymphoblastic lymphoma. He was receiving treatment with glutamine when the third course of methotrexate was administered (5g/m2) and he suffered a deterioration in his renal function. Carboxypeptidase was used but the methotrexate serum concentration reduction was not satisfactory. The technique to assess the amount of enzyme-inactivated methotrexate by quantification of MTX metabolites is not available in our country, therefore, the concentrations of MTX may be overestimated. The literature was reviewed to study the influence of glutamine on delayed methotrexate elimination which may lead to acute toxicity (AU)


Subject(s)
Humans , Male , Adolescent , Carboxypeptidases/pharmacokinetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Methotrexate/toxicity , Drug Interactions , Antineoplastic Agents/toxicity , Acute Kidney Injury/chemically induced
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