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1.
J Gastrointestin Liver Dis ; 32(3): 384-392, 2023 09 29.
Article in English | MEDLINE | ID: mdl-37774212

ABSTRACT

BACKGROUND AND AIMS: Irritable bowel syndrome (IBS) is a prevalent disorder with a complex and heterogeneous physiopathology, including a dysregulation of gut-brain axis. Treatment for IBS is targeted to the predominant symptom and requires a multidisciplinary approach. This review aims to evaluate the efficacy and safety of sacral nerve stimulation in non-constipated IBS patients Methods: A literature search was carried out on MEDLINE, The Cochrane Central Register of Controlled Trials (CENTRAL) and Web of Science databases for all relevant articles. Quality of included papers was assessed using standardized guidelines Results: Of 129 initial citations, 7 articles met our predefined inclusion criteria, including five randomized trials, a pilot study and a descriptive follow-up study. Five of 7 studies reported a positive effect of sacral nerve stimulation on symptoms and quality of life improvement in non-constipated IBS patients. No study reported serious adverse events. CONCLUSIONS: Despite initial promising results of sacral nerve stimulation in non-constipated IBS patients, studies with larger sample sizes and longer follow-up are required.


Subject(s)
Irritable Bowel Syndrome , Humans , Irritable Bowel Syndrome/diagnosis , Irritable Bowel Syndrome/therapy , Follow-Up Studies , Quality of Life , Pilot Projects , Treatment Outcome
3.
Front Pediatr ; 10: 1027421, 2022.
Article in English | MEDLINE | ID: mdl-36518777

ABSTRACT

Background: Hypercalcemia is a rare metabolic disorder in the pediatric population, with several differential diagnoses that resemble hematologic malignancies. In cases of severe hypercalcemia, therapeutic strategies other than hyperhydration, such as the use of bisphosphonates, have been described. Case presentation: We present the case of a previously healthy 12-year-old boy who was admitted to the emergency department due to fatigue, hypo-responsiveness, and progressively worsening poor appetite for the previous 19 days. Initial laboratory tests revealed severe hypercalcemia (total calcium: 19 mg/dl), hyperphosphatemia, elevated creatinine, and hyperuricemia. Management with hyperhydration and xanthine oxidase inhibitor (allopurinol) was provided. The patient was transferred to the pediatric intensive care unit where treatment with furosemide, systemic corticosteroid, and zoledronic acid was started. Metabolic, infectious, renal, and endocrinological causes were excluded. Follow-up paraclinical studies showed a progressive hematologic involvement with heterogeneous hypochromic microcytic anemia, thrombocytopenia, and elevated lactic dehydrogenase. Bone marrow aspiration and biopsy were performed, which confirmed the diagnosis of B-precursor acute lymphoblastic leukemia. Hypercalcemia was resolved 72 h after the application of bisphosphonates. Conclusion: Hypercalcemia as an oncological metabolic emergency in the onset of acute lymphoblastic leukemia is uncommon in children. The use of intravenous bisphosphonates is an effective therapy in the early resolution of the condition. We present the case of a 12-year-old patient with malignant hypercalcemia who responded favorably to the use of a single dose of bisphosphonates.

4.
Cir. Esp. (Ed. impr.) ; 99(7): 500-505, ago.-sep. 2021. tab, ilus, mapas
Article in Spanish | IBECS | ID: ibc-218237

ABSTRACT

Introducción: La pandemia ocasionada ha supuesto un impacto sobre la actividad quirúrgica en nuestros hospitales, afectando entre otros al cáncer colorrectal. Para el año 2020 se ha estimado que hasta un 75% de pacientes diagnosticados de cáncer colorrectal precisaría cirugía. No se disponen de datos objetivos del impacto que la pandemia ha tenido sobre la gestión de las listas de espera quirúrgicas. Hemos realizado una encuesta a todas las unidades de cirugía colorrectal con el objetivo de conocer el impacto sobre las listas de espera quirúrgicas por cáncer colorrectal. Método: Los responsables de las unidades de cirugía colorrectal a nivel nacional recibieron una encuesta (febrero-abril, 2020) con 8 preguntas divididas en 3 apartados: cese y fecha de parada de las cirugías por cáncer colorrectal, número de pacientes pendientes de tratamiento y uso de neoadyuvancia como recurso de demora. Resultados: Sesenta y siete unidades participaron (todas las comunidades representadas). El 79,1% realizaron algún tipo de cese de actividad (total 32,8%, parcial 46,3%) y no cese el 20,9%. El 65% ha usado o prolongado la neoadyuvancia en pacientes con cáncer rectal. El 40% ha intervenido, al menos, a 5 pacientes de urgencia por cáncer colorrectal. Se ha estimado que al menos se precisará de un mes de cirugía intensa para ponerse al día. Conclusiones: En el momento actual es preciso redistribuir pacientes de unidades con alta lista de espera. Para el futuro, en caso de repandemia, habría que planificar los recursos de las unidades para obtener un programa efectivo antes del periodo de colapso completo. (AU)


Introduction: The pandemic has had an impact on colorectal cancer surgery in hospitals. In 2020, up to 75% of colorectal cancer patients are estimated to require surgery. No objective data on the impact of the pandemic on the management of surgical waiting lists is available. We conducted a survey in colorectal surgery units to assess the impact on colorectal cancer surgery waiting lists. Method: All personnel in charge of colorectal surgery units nationwide received a survey (from February to April, 2020) with eight questions divided into three sections—cessation date of colorectal cancer surgeries, number of patients waiting for treatment, and use of neoadjuvant therapy to postpone surgery. Results: Sixty-seven units participated in the study, with 79.1% of units ceasing some type of activity (32.8% total and 46.3% partial cessation) and 20.9% continuing all surgical activity. In addition, 65% of units used or prolonged neoadjuvant therapy in rectal cancer patients and 40% of units performed at least five emergency colorectal cancer surgeries. It was estimated that at least one month of intense surgical activity will be required to catch up. Conclusions: Currently, patients from units with a long waiting list must be redistributed, at least within the country. In the future, in the event of a second wave of the pandemic, an effective program to manage each unit's resources should be developed to prevent total collapse. (AU)


Subject(s)
Humans , Pandemics , Coronavirus Infections/epidemiology , Colorectal Neoplasms/surgery , Severe acute respiratory syndrome-related coronavirus , Spain , Surveys and Questionnaires
5.
Cir Esp (Engl Ed) ; 99(7): 500-505, 2021.
Article in English | MEDLINE | ID: mdl-34210653

ABSTRACT

INTRODUCTION: The pandemic has had an impact on colorectal cancer surgery in hospitals. In 2020, up to 75% of colorectal cancer patients are estimated to require surgery. No objective data on the impact of the pandemic on the management of surgical waiting lists is available. We conducted a survey in colorectal surgery units to assess the impact on colorectal cancer surgery waiting lists. METHOD: All personnel in charge of colorectal surgery units nationwide received a survey (from February to April, 2020) with eight questions divided into three sections-cessation date of colorectal cancer surgeries, number of patients waiting for treatment, and use of neoadjuvant therapy to postpone surgery. RESULTS: Sixty-seven units participated in the study, with 79.1% of units ceasing some type of activity (32.8% total and 46.3% partial cessation) and 20.9% continuing all surgical activity. In addition, 65% of units used or prolonged neoadjuvant therapy in rectal cancer patients and 40% of units performed at least five emergency colorectal cancer surgeries. It was estimated that at least one month of intense surgical activity will be required to catch up. CONCLUSIONS: Currently, patients from units with a long waiting list must be redistributed, at least within the country. In the future, in the event of a second wave of the pandemic, an effective program to manage each unit's resources should be developed to prevent total collapse.


Subject(s)
COVID-19/prevention & control , Colonic Neoplasms/surgery , Digestive System Surgical Procedures/statistics & numerical data , Infection Control/organization & administration , Rectal Neoplasms/surgery , COVID-19/epidemiology , COVID-19/transmission , Elective Surgical Procedures/statistics & numerical data , Humans , Patient Selection , Procedures and Techniques Utilization , Spain/epidemiology , Surveys and Questionnaires , Waiting Lists
7.
Colorectal Dis ; 23(6): 1499-1506, 2021 06.
Article in English | MEDLINE | ID: mdl-33655675

ABSTRACT

AIM: Complex perianal fistulas pose a challenge to the surgeon since the fistulous tract must be eliminated without impairing continence. Although without strong scientific evidence, some bibliography has demonstrated the efficacy of some sealants in the treatment of anal fistulas. We aimed to assess the feasibility and safety of calcium alginate hydrogel injections into the fistulous tract as treatment for trans-sphincteric cryptoglandular fistulas. METHODS: A prospective, single-centre, case series of this novel technique was conducted in a level 3 Spanish hospital, including patients diagnosed with trans-sphincteric perianal fistulas and treated with a calcium alginate hydrogel sealant. A strict follow-up was performed by an independent surgeon at 1, 3, 6 and 12 months. The main outcome measures were feasibility, safety (number of adverse events) and efficacy of the treatment. RESULTS: Twenty patients were treated. The treatment was performed for all patients. Seven adverse events related to the injection product or the surgical procedure were identified. After a 12-month follow-up, 12 patients were completely cured and eight were not cured, with a greater response in the first 6 months. These findings were confirmed by endoanal ultrasound, with a Cohen's kappa concordance rate of 0.89. No statistically significant differences were observed in pain measured using the visual analogue scale, faecal incontinence measured using the Wexner scoring system, and quality of life analysed by the SF-36 Health Survey. CONCLUSION: The treatment was feasible, safe and with discrete satisfactory healing results. It also demonstrated an acceptable safety profile, without worsening of faecal incontinence, quality of life and pain following treatment.


Subject(s)
Fecal Incontinence , Rectal Fistula , Alginates/adverse effects , Anal Canal , Feasibility Studies , Humans , Hydrogels , Prospective Studies , Quality of Life , Rectal Fistula/drug therapy , Rectal Fistula/surgery , Treatment Outcome
9.
Cir Esp ; 2020 Sep 01.
Article in Spanish | MEDLINE | ID: mdl-34629479

ABSTRACT

INTRODUCTION: The pandemic has had an impact on colorectal cancer surgery in hospitals. In 2020, up to 75% of colorectal cancer patients are estimated to require surgery. No objective data on the impact of the pandemic on the management of surgical waiting lists is available. We conducted a survey in colorectal surgery units to assess the impact on colorectal cancer surgery waiting lists. METHOD: All personnel in charge of colorectal surgery units nationwide received a survey (from February to April, 2020) with eight questions divided into three sections-cessation date of colorectal cancer surgeries, number of patients waiting for treatment, and use of neoadjuvant therapy to postpone surgery. RESULTS: Sixty-seven units participated in the study, with 79.1% of units ceasing some type of activity (32.8% total and 46.3% partial cessation) and 20.9% continuing all surgical activity. In addition, 65% of units used or prolonged neoadjuvant therapy in rectal cancer patients and 40% of units performed at least five emergency colorectal cancer surgeries. It was estimated that at least one month of intense surgical activity will be required to catch up. CONCLUSIONS: Currently, patients from units with a long waiting list must be redistributed, at least within the country. In the future, in the event of a second wave of the pandemic, an effective program to manage each unit's resources should be developed to prevent total collapse.

10.
Cir. Esp. (Ed. impr.) ; 96(3): 131-137, mar. 2018. tab
Article in Spanish | IBECS | ID: ibc-171860

ABSTRACT

La incontinencia fecal representa una de las principales causas de institucionalización en las últimas décadas de la vida de una persona, asociando además gran repercusión psicosocial y económica. La literatura muestra escasa evidencia cuando se trata de analizar de forma específica a este grupo de población, debido a la falta de uniformidad en la consideración de «paciente anciano» y en la dificultad de su detección y diagnóstico. El objetivo de este artículo ha sido realizar una revisión narrativa de los principales aspectos relacionados con la incontinencia fecal en el anciano y facilitar el manejo de estos pacientes. La asistencia para la defecación, las modificaciones dietéticas y el control de la consistencia de las deposiciones o el tratamiento farmacológico son en muchos casos medidas suficientes. No obstante, otras terapias como el biofeedback, la neuromodulación o el tratamiento quirúrgico no deben descartarse y han de ser valoradas de forma selectiva en pacientes ancianos


Fecal incontinence is one of the leading causes for the institutionalization of people in the last decades of life, associated with a great psychosocial and economic burden. The literature is scarce in this population group, due to the absence of universally accepted criteria to define "elderly patients" and difficulties in detection and diagnostic. The aim of this article was to conduct a narrative review of the main aspects related to fecal incontinence in older patients, providing management support. Toileting assistance, dietary change, controlling stool consistency and medical treatment can be used to treat these patients. Nevertheless, other therapies, such as biofeedback, neuromodulation or surgical treatment, can be considered in selected patients


Subject(s)
Humans , Aged , Fecal Incontinence/epidemiology , Fecal Impaction/epidemiology , Fecal Incontinence/therapy , Geriatric Assessment/statistics & numerical data , Risk Factors , Health Care Costs/statistics & numerical data , Disease Susceptibility
11.
Cir Esp (Engl Ed) ; 96(3): 131-137, 2018 Mar.
Article in English, Spanish | MEDLINE | ID: mdl-29467081

ABSTRACT

Fecal incontinence is one of the leading causes for the institutionalization of people in the last decades of life, associated with a great psychosocial and economic burden. The literature is scarce in this population group, due to the absence of universally accepted criteria to define "elderly patients" and difficulties in detection and diagnostic. The aim of this article was to conduct a narrative review of the main aspects related to fecal incontinence in older patients, providing management support. Toileting assistance, dietary change, controlling stool consistency and medical treatment can be used to treat these patients. Nevertheless, other therapies, such as biofeedback, neuromodulation or surgical treatment, can be considered in selected patients.


Subject(s)
Fecal Incontinence , Aged , Algorithms , Fecal Incontinence/diagnosis , Fecal Incontinence/therapy , Humans
12.
Cir Esp ; 95(4): 208-213, 2017 Apr.
Article in English, Spanish | MEDLINE | ID: mdl-28411889

ABSTRACT

INTRODUCTION: The PICS-AF™ (Curaseal Inc.) device is a new plug made of collagen that has a retention system in the internal orifice. This pilot study was designed to assess both the feasibility and safety of this plug in the treatment of trans-sphincteric anal fístulas. METHODS: A total of 44 patients (34 men), with a mean age of 54.68±7.3, with trans-sphincteric anal fístulas were included in the study; 34 of them were analyzed. All patients were examined according to a strict preoperative protocol and until 6 months after surgery. The feasibility of the procedure and the adverse events were analyzed. RESULTS: Finally, 34 patients were operated on, and in 30 of them the plug was used. Therefore, the feasibility was calculated at 88%. There was a total of 16 adverse events, 4recorded as not related (3 mild and one moderate) and 12 related to the procedure or to the device implanted. Of these, 5were mild, 5moderate and 2severe. The majority of the events reported were related to proctalgia (4 patients) or infection at the implant site (4 patients). CONCLUSIONS: The present study indicates that the new collagen plug can be placed effectively and with an acceptable complication rate.


Subject(s)
Collagen , Prostheses and Implants , Rectal Fistula/surgery , Feasibility Studies , Female , Humans , Male , Middle Aged , Pilot Projects , Prospective Studies , Prostheses and Implants/adverse effects , Prosthesis Design
13.
Cir. Esp. (Ed. impr.) ; 95(4): 208-213, abr. 2017. ilus, graf, tab
Article in Spanish | IBECS | ID: ibc-162256

ABSTRACT

INTRODUCCIÓN: El dispositivo PICS-AF(TM) es un nuevo tapón hecho de colágeno que tiene un sistema de retención en el orificio fistuloso interno. Este estudio piloto ha sido diseñado para evaluar la factibilidad y seguridad de este dispositivo en el tratamiento de las fístulas anales criptoglandulares transesfinterianas. MÉTODOS: Un total de 44 pacientes (34 hombres) con diagnóstico de fístula transesfinteriana fueron incluidos en el estudio, de los cuales 34 fueron seleccionados. Todos los pacientes fueron examinados según un protocolo estricto antes de la cirugía y hasta 6 meses después. Se analizaron la factibilidad del procedimiento y los acontecimientos adversos. RESULTADOS: El dispositivo se colocó sin incidencias en 30 de los 34 pacientes (factibilidad del 88%). Se evidenciaron un total de 16 acontecimientos adversos, 4registrados como no relacionados con el procedimiento (3 leves y uno moderado) y 12 relacionados con el procedimiento o el dispositivo implantado. De ellos, 5fueron leves, 5moderados y 2graves. La mayoría de los efectos adversos reportados fueron proctalgia (4 pacientes) o infección en el sitio del implante (4 pacientes). CONCLUSIONES: El presente estudio indica que el nuevo tapón de colágeno puede ser colocado de forma efectiva y con una tasa de complicaciones aceptable


INTRODUCTION: The PICS-AF(TM) (Curaseal Inc.) device is a new plug made of collagen that has a retention system in the internal orifice. This pilot study was designed to assess both the feasibility and safety of this plug in the treatment of trans-sphincteric anal fístulas. METHODS: A total of 44 patients (34 men), with a mean age of 54.68±7.3, with trans-sphincteric anal fístulas were included in the study; 34 of them were analyzed. All patients were examined according to a strict preoperative protocol and until 6 months after surgery. The feasibility of the procedure and the adverse events were analyzed. RESULTS: Finally, 34 patients were operated on, and in 30 of them the plug was used. Therefore, the feasibility was calculated at 88%. There was a total of 16 adverse events, 4recorded as not related (3 mild and one moderate) and 12 related to the procedure or to the device implanted. Of these, 5were mild, 5moderate and 2severe. The majority of the events reported were related to proctalgia (4 patients) or infection at the implant site (4 patients). CONCLUSIONS: The present study indicates that the new collagen plug can be placed effectively and with an acceptable complication rate


Subject(s)
Humans , Rectal Fistula/surgery , Collagen/therapeutic use , Surgical Fixation Devices , Treatment Outcome , Postoperative Complications/epidemiology , Antibiotic Prophylaxis
14.
Dermatol Online J ; 23(2)2017 Feb 15.
Article in English | MEDLINE | ID: mdl-28329500

ABSTRACT

El acantoma de la vaina pilosa es un tumor benignode piel muy poco frecuente. Suele presentarse comouna pápula asintomática, con un orificio central y lalocalización más frecuente es la cara. Presentamos unnuevo caso de acantoma de vaina pilosa, apoartandoimagen dermatoscópica del tumor.


Subject(s)
Acanthoma/diagnosis , Facial Neoplasms/diagnosis , Skin Neoplasms/diagnosis , Acanthoma/pathology , Adult , Facial Neoplasms/pathology , Humans , Male , Skin Neoplasms/pathology
16.
Rev cien med habana ; 21(2)may.-ago. 2015. tab
Article in Spanish | CUMED | ID: cum-66847

ABSTRACT

Introducción: la estomatitis subprótesis, es una de las alteraciones más frecuentes de la mucosa bucal que se presenta en pacientes portadores de prótesis estomatológica y constituye un factor de riesgo para la aparición de lesiones premalignas y malignas de la boca. Objetivo: determinar la prevalencia de la estomatitis subprótesis en el consultorio médico número 7 del municipio Jaruco. Métodos: se realizó un estudio descriptivo transversal cuyo universo lo constituyeron 78 pacientes examinados en consulta y la muestra estuvo representada por 70 pacientes que cumplieron con los criterios de inclusión y exclusión, a los cuales se aplicó un cuestionario y se hizo un examen bucal, para conocer como se comporta esta enfermedad según edad, sexo y forma clínica, así como cuáles son los factores predisponentes que estaban presentes en esta población. Resultados: el 54,2 por ciento de la población estudiada presentó estomatitis subprótesis, de ellos el 30 por ciento perteneció a los pacientes de 60 años y mas y el sexo femenino fue el mas afectado con un 52,6 por ciento. Además el tiempo de uso de la prótesis, la higiene deficiente y las prótesis no funcionales fueron los factores que incidieron mayormente en la alta prevalencia de esta enfermedad. Conclusiones: prevaleció la estomatitis subprótesis en la población estudiada. La forma clínica grado I fue la que más se evidenció, identificándose factores predisponentes a esta afección (AU)


Introduction: sub prosthesis stomatitis, is one of the most frequent disorders of the oral mucosa that is presented in patients with dental prostheses and it constitutes a risk factor for the appearance of pre malignant lesions in the mouth. Objective: to determine the prevalence of sub prosthesis stomatitis in the Doctors Office number 7 from Jaruco municipality. Methods: a transversal descriptive study was carried out with 78 patients examined in consultation and the simple was represented by 70 patients that accomplished with the inclusion y exclusion criteria, who were applied a questionnaire and an oral exam was done, to know about this disease related to age, sex and clinical presentation as well as which are the predisposing factors that were present in this population. Results: 54,2 per cent of the studied population presented sub prosthesis stomatitis fron them the 30 per cent belonged to the patients of 60 years old and more and the female sex was the most affected with a 52,6 per cent. Besides, the time of using the prosthesis, the deficient higiene and non-functional prosthesis were the factors that most affected in the high prevalence of the disease. Conclusions: sub prosthesis stomatitis prevailed in the studied population. Grade I clinical presentation was the most evidenced identifying predisposing factors to this affection (AU)


Subject(s)
Stomatitis , Dental Prosthesis , Causality
17.
Eur J Dermatol ; 25(5): 410-7, 2015.
Article in English | MEDLINE | ID: mdl-26080687

ABSTRACT

BACKGROUND: Information on the long-term efficacy of etanercept (ETN) treatment of moderate-to-severe psoriasis according to the Summary of Product Characteristics (SmPC) is scarce. OBJECTIVES: We report the efficacy results of an observational clinical trial including 202 patients treated for 12 months with ETN according to SmPC. METHODS: Concomitant topical treatment was permitted throughout the study period. Efficacy assessment was done by intention-to-treat analysis with last observation carried forward. RESULTS: Mean % Body Surface Area (BSA) and Psoriasis Area and Severity Index (PASI) decreased from 39.0% and 22.2% at baseline to 7.9% and 4.4%, respectively, at 12 months. Throughout the study duration, PASI 50, PASI 75 and PASI 90 response rates ranged from 72.8% to 95.7%, 55.6% to 84.3%, and 36.1% to 62.2%, respectively. Body mass index and body weight had minor effects on treatment efficacy. CONCLUSION: ETN treatment according to the SmPC provided sustained improvement of psoriasis throughout one year.


Subject(s)
Etanercept/therapeutic use , Immunosuppressive Agents/therapeutic use , Psoriasis/diagnosis , Psoriasis/drug therapy , Adult , Analysis of Variance , Cohort Studies , Dose-Response Relationship, Drug , Drug Administration Schedule , Female , Follow-Up Studies , Humans , Male , Middle Aged , Risk Assessment , Severity of Illness Index , Spain , Statistics, Nonparametric , Time Factors , Treatment Outcome
18.
PLoS One ; 10(3): e0119102, 2015.
Article in English | MEDLINE | ID: mdl-25742129

ABSTRACT

BACKGROUND: The clinical use of purified SOD enzymes has strong limitations due to their large molecular size, high production cost and immunogenicity. These limitations could be compensated by using instead synthetic SOD mimetic compounds of low molecular weight. BACKGROUND/METHODOLOGY: We have recently reported that two SOD mimetic compounds, the Mn(II) complexes of the polyamines Pytren2Q and Pytren4Q, displayed high antioxidant activity in bacteria and yeast. Since frequently molecules with antioxidant properties or free-radical scavengers also have anti-inflammatory properties we have assessed the anti-inflammatory potential of Pytren2Q and Pytren4Q Mn(II) complexes, in cultured macrophages and in a murine model of inflammation, by measuring the degree of protection they could provide against the cellular injury produced by lipopolisacharide, a bacterial endotoxin. PRINCIPAL FINDINGS: In this report we show that the Mn(II) complex of Pytren4Q but not that of Pytren2Q effectively protected human cultured THP-1 macrophages and whole mice from the inflammatory effects produced by LPS. These results obtained with two molecules that are isomers highlight the importance of gathering experimental data from animal models of disease in assessing the potential of candidate molecules. CONCLUSION/SIGNIFICANCE: The effective anti-inflammatory activity of the Mn(II) complex of Pytren4Q in addition to its low toxicity, water solubility and ease of production would suggest it is worth taking into consideration for future pharmacological studies.


Subject(s)
Anti-Inflammatory Agents/pharmacology , Manganese/metabolism , Molecular Mimicry , Superoxide Dismutase/metabolism , Animals , Cell Line , Chlorocebus aethiops , Humans , MAP Kinase Signaling System , Male , Mice , Vero Cells
19.
Mol Biol Rep ; 41(7): 4827-31, 2014 Jul.
Article in English | MEDLINE | ID: mdl-24696001

ABSTRACT

The aim was to characterize the INSIG-2 gene in Sarda sheep and to highlight associations between polymorphisms and milk traits. Two-hundred ewes, in their third or fourth lactation who lambed a single lamb between 20th and 30th of November, were chosen. Monthly individual milk yield was recorded and from each ewe a sample of milk was taken to analyze fat and protein content. PCR-RFLP and DNA sequencing were carried out to detect polymorphisms. Five exons have been characterized and five mutations have been found G88A, 436TCAGdel, A471G, C1071T and T1737G all in the intronic regions. The ovine sequence and related variations were deposited in GenBank with accession number JX843812.1. The animals carrying AA genotype at position 88 showed a lower milk fat concentration than those with the AG or GG genotype (P < 0.05). A lower milk fat concentration was registered also in the animals with the TCAG deletion in position 436 (P < 0.05) and in the animals carrying AA genotype at position 471 compared to those with the AG or GG genotype (P < 0.05). Moreover, the animals carrying CC genotype at position 1071 had a greater milk yield than those with CT or TT genotype (P < 0.05) while ewes with TT genotype showed a higher milk protein concentration compared to the others (P < 0.05). A total of 11 haplotypes were detected but no significant associations with milk traits were found. In conclusion for the first time the complete coding sequence of INSIG-2 gene and its association with milk trait has been reported in this study.


Subject(s)
Lactation/genetics , Membrane Proteins/genetics , Polymorphism, Genetic , Quantitative Trait, Heritable , Sheep/genetics , Alleles , Animals , Dairying , Exons , Female , Gene Expression , Gene Frequency , Genetic Association Studies , Glycolipids/biosynthesis , Glycoproteins/biosynthesis , Haplotypes , Humans , Introns , Lipid Droplets , Membrane Proteins/chemistry , Membrane Proteins/metabolism , Milk/chemistry , Milk Proteins/biosynthesis , Phenotype
20.
Eur J Nutr ; 53(3): 897-906, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24129499

ABSTRACT

PURPOSE: The aim of this work was to investigate the potential protective effects of fish oil on the basis of kidney transcriptomic data on a nutritional experimental model. METHODS: Male weanling Wistar rats were divided into four groups and fed choline-deficient (CD) and choline-supplemented (CS) diets with vegetable oil (VO) and menhaden oil (MO): CSVO, CDVO, CSMO and CDMO. Animals were killed after receiving the diets for 6 days. Total RNA was purified from the right kidney and hybridized to Affymetrix GeneChip Rat Gene 1.0 ST Array. Differentially expressed genes were analyzed. RESULTS: All CSVO, CSMO and CDMO rats showed no renal alterations, while all CDVO rats showed renal cortical necrosis. A thorough analysis of the differential expression between groups CSMO and CDMO was carried out. There were no differential genes for p < 0.01. The analysis of the differential expression between groups CSVO and CSMO revealed 32 genes, 11 were over-expressed and 21 were under-expressed in CSMO rats. CONCLUSIONS: This work was part of a large set of experiments and was used in a hypothesis-generating manner. The comprehensive analysis of genetic expression allowed confirming that menhaden oil has a protective effect on this nutritional experimental model and identifying 32 genes that could be responsible for that protection, including Gstp1. These results reveal that gene changes could play a role in renal injury.


Subject(s)
Acute Kidney Injury/prevention & control , Choline Deficiency/diet therapy , Dietary Supplements , Fish Oils/therapeutic use , Kidney/metabolism , Transcriptome , Acute Kidney Injury/etiology , Animals , Biomarkers/blood , Choline/therapeutic use , Choline Deficiency/metabolism , Choline Deficiency/pathology , Choline Deficiency/physiopathology , Gene Expression Profiling , Glutathione S-Transferase pi/genetics , Glutathione S-Transferase pi/metabolism , Kidney/pathology , Kidney/physiopathology , Male , Necrosis , Oligonucleotide Array Sequence Analysis , RNA/metabolism , Rats, Wistar , Up-Regulation , Weaning
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