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1.
Rev Gastroenterol Mex (Engl Ed) ; 87(2): 170-175, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34794922

RESUMO

INTRODUCTION AND AIMS: Percutaneous liver biopsy with histopathologic analysis is a valuable tool for the diagnosis, prognosis, and treatment evaluation of liver diseases. Its ultrasound-guided performance is useful, making the procedure safer and reducing the risk for complications and hospital stay. Our aim was to describe the indications, histopathologic study, and complications associated with the performance of ultrasound-guided percutaneous liver biopsy in pediatric patients. MATERIAL AND METHODS: The study included 102 ultrasound-guided percutaneous liver biopsies performed on patients <16 years of age, within the time frame of January 2014 and December 2019. The information was obtained from electronic files and histopathologic studies and the data were analyzed through descriptive statistics. RESULTS: A total of 102 procedures were carried out on 99 patients. Mean patient age was 72 months and 58.8% of the patients were female. Over 65% of the indications for liver biopsy included autoimmune hepatitis (23.5%), elevated liver enzymes (21.5%), and chronic liver disease (20.5%). Four patients presented with immediate complications (3.9%), three of which were major (2.9%), concurring with that reported in the international literature. CONCLUSIONS: Our study corroborates the importance of ultrasound-guided liver biopsy in the diagnosis and follow-up of pediatric patients. The procedure also had a low complication rate of only 3.9%.


Assuntos
Hepatopatias , Ultrassonografia de Intervenção , Criança , Feminino , Humanos , Biópsia Guiada por Imagem/efeitos adversos , Biópsia Guiada por Imagem/métodos , Hepatopatias/diagnóstico por imagem , Masculino , Estudos Retrospectivos , Centros de Atenção Terciária , Ultrassonografia de Intervenção/métodos
2.
J Pediatr Urol ; 17(5): 753-755, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34736728

RESUMO

INTRODUCTION/BACKGROUND: Reconstructive and ablative urologic techniques require special technical mastery, especially the intracorporeal suturing. OBJECTIVE: To report the subjective evaluation of a versatile ex-vivo model aimed to practice laparoscopic ureteric reconstructive techniques (LURT) on box-trainer. STUDY DESIGN: The model is a continuous portion of porcine urinary bladder ("dilated pelvis"), the vesico-ureteral joint ("stenosis") and healthy ureter. All 127 participants (n = 119 urologists and n = 8 paediatric surgeons) performed on the model laparoscopic Anderson-Hynes dismembered pyeloplasty, and then, in the animal model, different LURT procedures (ureteroneocystostomy, ureteric reimplantation and/or dismembered pyeloplasty). The model was subjectively evaluated (face and content validity), through a 12 items questionnaire, based on a Likert scale (1-5 points) and a global question (1-10 points). RESULTS: The total mean rating for 11/12 items was very high (>4points). Only one was rated under 3 points. The overall total mean rating from 1 to 10 points was very high (9.19 ± 0.82 points). In 10/12 items, expert's feedback (content validity) prevailed over non-experts (face validity). DISCUSSION/CONCLUSION: The model was highly accepted for the practice of LURT techniques. Additionally, it is cost-effective, easy to assemble, ethically considerate, and realistic.


Assuntos
Laparoscopia , Ureter , Obstrução Ureteral , Animais , Humanos , Pelve Renal , Suínos , Ureter/cirurgia , Obstrução Ureteral/cirurgia , Procedimentos Cirúrgicos Urológicos
3.
Br J Dermatol ; 185(5): 988-998, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-33959940

RESUMO

BACKGROUND: Genome-wide association studies (GWASs) have identified genes influencing skin ageing and mole count in Europeans, but little is known about the relevance of these (or other genes) in non-Europeans. OBJECTIVES: To conduct a GWAS for facial skin ageing and mole count in adults < 40 years old, of mixed European, Native American and African ancestry, recruited in Latin America. METHODS: Skin ageing and mole count scores were obtained from facial photographs of over 6000 individuals. After quality control checks, three wrinkling traits and mole count were retained for genetic analyses. DNA samples were genotyped with Illumina's HumanOmniExpress chip. Association testing was performed on around 8 703 729 single-nucleotide polymorphisms (SNPs) across the autosomal genome. RESULTS: Genome-wide significant association was observed at four genome regions: two were associated with wrinkling (in 1p13·3 and 21q21·2), one with mole count (in 1q32·3) and one with both wrinkling and mole count (in 5p13·2). Associated SNPs in 5p13·2 and in 1p13·3 are intronic within SLC45A2 and VAV3, respectively, while SNPs in 1q32·3 are near the SLC30A1 gene, and those in 21q21·2 occur in a gene desert. Analyses of SNPs in IRF4 and MC1R are consistent with a role of these genes in skin ageing. CONCLUSIONS: We replicate the association of wrinkling with variants in SLC45A2, IRF4 and MC1R reported in Europeans. We identify VAV3 and SLC30A1 as two novel candidate genes impacting on wrinkling and mole count, respectively. We provide the first evidence that SLC45A2 influences mole count, in addition to variants in this gene affecting melanoma risk in Europeans.


Assuntos
Melanoma , Envelhecimento da Pele , Adulto , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único/genética , Envelhecimento da Pele/genética
4.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33810931

RESUMO

INTRODUCTION AND AIMS: Percutaneous liver biopsy with histopathologic analysis is a valuable tool for the diagnosis, prognosis, and treatment evaluation of liver diseases. Its ultrasound-guided performance is useful, making the procedure safer and reducing the risk for complications and hospital stay. Our aim was to describe the indications, histopathologic study, and complications associated with the performance of ultrasound-guided percutaneous liver biopsy in pediatric patients. MATERIAL AND METHODS: The study included 102 ultrasound-guided percutaneous liver biopsies performed on patients <16 years of age, within the time frame of January 2014 and December 2019. The information was obtained from electronic files and histopathologic studies and the data were analyzed through descriptive statistics. RESULTS: A total of 102 procedures were carried out on 99 patients. Mean patient age was 72 months and 58.8% of the patients were female. Over 65% of the indications for liver biopsy included autoimmune hepatitis (23.5%), elevated liver enzymes (21.5%), and chronic liver disease (20.5%). Four patients presented with immediate complications (3.9%), three of which were major (2.9%), concurring with that reported in the international literature. CONCLUSIONS: Our study corroborates the importance of ultrasound-guided liver biopsy in the diagnosis and follow-up of pediatric patients. The procedure also had a low complication rate of only 3.9%.

5.
Mol Hum Reprod ; 26(10): 748-759, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-32647896

RESUMO

This work was designed to determine temperature conditions within the reproductive tract of the female pig and study their impact on ARTs. Temperatures were recorded using a laparo-endoscopic single-site surgery assisted approach and a miniaturized probe. Sows and gilts were used to address natural cycle and ovarian stimulation treatments, respectively. According to in vivo values, IVF was performed at three temperature conditions (37.0°C, 38.5°C and 39.5°C) and presumptive zygotes were cultured in these conditions for 20 h, while further embryo culture (EC) (21-168 h post-insemination) was maintained at 38.5°C. After 20 h, different fertility parameters were assessed. During EC, cleavage and blastocyst stages were evaluated. Sperm membrane fluidity at the experimental temperatures was studied by using differential scanning calorimetry and fluorescence recovery after photobleaching techniques. An increasing temperature gradient of 1.5°C was found between the oviduct and uterus of sows (P < 0.05) and when this gradient was transferred to pig in vitro culture, the number of poly-nuclear zygotes after IVF was reduced and the percentage of blastocysts was increased. Moreover, the temperature transition phase for the boar sperm membrane (37.0°C) coincided with the temperature registered in the sow oviduct, and sperm membranes were more fluid at 37.0°C compared with those of sperm incubated at higher temperatures (38.5°C and 39.5°C). These data suggest that there may be an impact of physiological temperature gradients on human embryo development.


Assuntos
Técnicas de Cultura Embrionária/métodos , Oviductos/fisiologia , Temperatura , Útero/fisiologia , Animais , Biomimética , Temperatura Corporal/fisiologia , Células Cultivadas , Técnicas de Cultura Embrionária/veterinária , Embrião de Mamíferos , Desenvolvimento Embrionário/fisiologia , Feminino , Fertilização in vitro/métodos , Fertilização in vitro/veterinária , Suínos
6.
Rev. argent. dermatol ; 100(4): 71-80, dic. 2019. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1092397

RESUMO

Resumen La calcifilaxis es un síndrome caracterizado por la calcificación de la pared media de las arteriolas de pequeño y mediano calibre de dermis y tejido celular subcutáneo, que se caracteriza clínicamente por úlceras necróticas, intensamente dolorosas, que afectan sobre todo miembros inferiores. Existen factores de riesgo para su desarrollo, como insuficiencia renal crónica, hiperparatiroidismo, sexo femenino, raza caucásica, diabetes, uso de anticoagulantes, entre otros. Si bien no existe un protocolo estandarizado para su tratamiento, se ha propuesto el uso del tiosulfato sódico como primera elección. Se presenta el caso de una paciente de sexo femenino de 75 años de edad con diagnóstico de calcifilaxis.


Abstract Calciphylaxis is a syndrome characterized by calciphication of the media of small and medium vessels of dermis and subcutaneous celular tissue, clinically characterized by extremely painful, necrotic ulcers, that affects especially lower limbs. There are risk factors for its development, such as renal failure, hyperparathyroidism, female gender, caucasian race, diabetes, use of anticoagulants, among others. Although there is not a standarized protocol for the treatment, it has been proposed the use of sodium thiosulfate as first line. We report a case of a woman of 75 years old with calciphylaxis.

7.
Actas Urol Esp (Engl Ed) ; 43(7): 348-354, 2019 Sep.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31128874

RESUMO

OBJECTIVE: The aim of this study is to prove the effectiveness of a low cost, artificial model for training of a laparoscopic urethrovesical anastomosis. MATERIALS AND METHODS: This study included urologists who attended specialised courses on laparoscopic radical prostatectomy (LRP) held during the period 2015 to 2017. They were divided into 2 groups according to their previous experience in laparoscopic surgery. The tasks performed on the artificial simulator were prostate resection, "task 1", and urethrovesical anastomosis, "task 2". Once these exercises were completed, the study participants filled in an anonymous questionnaire regarding their demographic data and experience level in laparoscopic surgery (LS). In addition, they gave their opinions about the didactic capacity of the artificial organ and evaluated its usefulness as a tool for LRP training. To demonstrate face and content validity, the participants judged the texture, consistency, morphology and evaluated its similarity to the real organ. The assessment was made with a five-point Likert scale. RESULTS: The students were divided into 2groups: 10 experts (Group E) and 12 novices (Group N). The only significant difference between the scores of novices and experts was regarding the inclusion of this tool in the training programs (Group E=5 points versus group N=4.4±0.59, P=.024). The experts' group rated all the items with higher scores than the novices' one. Regarding the general assessment of the simulation model, the novice participants gave an average score of 8.00±0.91 points out of 10, while the experts' group granted higher scores of 9.4±0,51. CONCLUSION: This artificial model has shown to have an elevated face, content and construct validity, as well being an optimal didactic tool for training in the techniques of prostate resection and laparoscopic urethrovesical anastomosis.


Assuntos
Laparoscopia/educação , Modelos Anatômicos , Prostatectomia/educação , Prostatectomia/métodos , Treinamento por Simulação , Uretra/cirurgia , Bexiga Urinária/cirurgia , Anastomose Cirúrgica , Humanos , Masculino
8.
Cuad. Hosp. Clín ; 60(n. esp.): 28-32, 2019. ilus.
Artigo em Espanhol | LIBOCS, LILACS | ID: biblio-1118790

RESUMO

OBJETIVO: El traumatismo grave es la causa principal de muerte en pacientes menores de 40 años, siendo el trauma craneoencefálico la primera causa de discapacidad severa, mientras que la hemorragia se mantiene como principal causa prevenible de muerte. El objetivo del presente trabajo es describir la casuística de los pacientes atendidos en la Unidad de Cuidados Intensivos Adultos del Centro de Trauma Hospital Corazón de Jesús de la ciudad de El Alto en La Paz (Bolivia). METODOLOGÍA: Estudio retrospectivo. Se incluyen todos los pacientes internados en la Unidad de Cuidados Intensivos Adultos del Centro de Trauma Hospital Corazón de Jesús, Unidad Polivalente, ingresados en el periodo 01 Octubre 2016-01 Abril de 2019. RESULTADOS: Se ingresaron 485 pacientes, 273 (56%) varones así como 212 (44%) mujeres, la sobrevida llega al 91% y el 9% de mortalidad corregida. La media de edad corresponde a 48 años (desviación estándar 19 años), la media de estancia en la Unidad de Cuidados Intensivos es de 112 horas (desviación estándar 87 horas). La mayor parte de pacientes proviene del Servicio de Urgencias y Quirófano, con diagnósticos de trauma craneoencefálico grave y hemorragia secundaria a trauma. CONCLUSIÓN: Este estudio muestra la casuística de una Unidad de Cuidados Intensivos de un Centro de Trauma, resultando imperativo describir la casuística concerniente a nuestros Centros Asistenciales con fines de la realización de investigación ulterior de forma multicéntrica.


OBJECTIVE: Severe trauma is leading cause of death in patients younger than 40 years, traumatic brain injury is also the leading cause of severe disability, while hemorrhage remains as main cause of preventable death. The objective of this paper is to describe the casuistic of patients treated in the Intensive Care Unit of Trauma Center Hospital Corazón de Jesús of El Alto City in La Paz (Bolivia). METHODOLOGY: Retrospective study. Includes all patients admitted at Intensive Care Unit, Polyvalent Unit, during the period 01 October 2016-01 April 2019. RESULTS: 485 patients were admitted, 273 (56%) male and 212 (44%) female, survival reaches 91% and 9% of adjusted mortality. Mean age is 48 years (standard deviation 19 years), mean length-of-stay in Intensive Care Unit is 112 hours (standard deviation 87 hours). The majority of patients arrived from the Emergency Department and Operating Room, with main diagnoses of severe traumatic brain injury and hemorrhage secondary to trauma. CONCLUSION: This study shows the casuistic of an Intensive Care Unit of a Trauma Center, resulting imperative to describe the casuistic of other Hospitals for the purpose of conducting further multicentric research.


Assuntos
Humanos , Centros de Traumatologia , Causas de Morte , Cuidados Críticos , Lesões Encefálicas Traumáticas , Pacientes , Estudos Retrospectivos , Diagnóstico , Emergências
9.
Mol Hum Reprod ; 24(5): 260-270, 2018 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-29490063

RESUMO

STUDY QUESTION: Is O2 tension in the pig oviduct and uterus affected by the estrous cycle stage and the animal's age, and can the outcome of in vitro embryo development be improved by mimicking these physiological values? SUMMARY ANSWER: O2 tension within the pig reproductive organs is affected by the animal's age, and values close to those measured in vivo have a positive impact on embryo development and quality when used during IVF and embryo culture (EC). WHAT IS KNOWN ALREADY: To obtain a healthy embryo in vitro, it is necessary to adopt a culture microenvironment that approximates physiological conditions. Despite advances in surgical procedures and sensitive probes that allow accurate assessment of in vivo O2 tension, few such studies have been conducted recently in mammals. In addition, no reference values of physiological O2 tension in the reproductive tract exist for large animal models such as pig, and the effect of O2 tension on ART outcomes is unknown. STUDY DESIGN, SIZE, DURATION: This study was conducted in pigs. We measured oviductal and uterine O2 tension (n = 29 and 13, respectively) and then examined how the use of the physiological values in pig IVF and EC affected pig ART output (n = 1447 oocytes). PARTICIPANTS/MATERIALS, SETTING, METHODS: The oviductal and uterine O2 tension at the different stages of the estrous cycle was monitored using a laparo-endoscopic single-site surgery (LESS) assisted approach along with a flexible and thin miniaturized luminescent probe. Two groups of pigs, Large-white × Landrace breed, were used: for the first group, 16 pre-pubertal gilts (5 months old and 95 kg) were induced to ovulate with equine chorionic gonadotropin (eCG) and human chorionic gonadotropin (hCG); in the second group 13 mature sows (24-48 months and 185 kg) were used. IVF and EC were performed at two different O2 tensions: Atmospheric O2 (20%) and the mean in vivo value measured (7%). At 18-20 h post-insemination (hpi), a small sample of presumptive zygotes were fixed, stained and examined under epifluorescence microscopy to assess the fertilization rates. At 48 hpi, cleavage was evaluated under the stereomicroscope. Finally, at 180 hpi, development to the blastocyst stage was quantified, blastocyst morphology was assessed, and embryos were fixed and stained to count the mean cell number per blastocyst. MAIN RESULTS AND THE ROLE OF CHANCE: The mean O2 content within the pig oviduct and uterus was always lower than in ambient air. The average O2 percentage was higher in gilts (10.0%) than in sows (7.6%) (P < 0.0001). The cleavage rate of porcine in vitro fertilized embryos maintained under 7% O2 during IVF and EC was significantly higher (60.0 ± 2.3) compared with those cultured under 20% O2 (32.0 ± 2.2) (P < 0.05). An increase in the number of cells in embryos cultured under the low O2 concentration (88.9 ± 5.9) was observed compared to those cultured under 20% O2 (59.0 ± 5.0) (P < 0.05). LARGE SCALE DATA: None. LIMITATIONS, REASONS FOR CAUTION: Although minimally invasive surgery was used the effect of anesthesia and manipulations on O2 tension within the organs are unknown. WIDER IMPLICATIONS OF THE FINDINGS: Using physiological oxygen concentrations in IVF/EC could improve ART outcomes. STUDY FUNDING AND COMPETING INTEREST(S): This study was funded by Spanish Ministry of Economy and Competitiveness (MINECO) and European Regional Development Fund (FEDER). Grants AGL2012-40180-C03-01 and AGL2015-66341-R. The authors declare no conflict of interest.


Assuntos
Blastocisto/fisiologia , Desenvolvimento Embrionário/fisiologia , Oviductos/fisiologia , Oxigênio/fisiologia , Técnicas de Reprodução Assistida/veterinária , Útero/fisiologia , Animais , Feminino , Gravidez , Suínos
10.
Andrologia ; 50(1)2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28421619

RESUMO

Chlamydia trachomatis is considered as the bacterium that is more sexually transmitted as cause of male urethritis, epididymitis, orchitis and infertility. A total of 116 semen samples of men whose couples are infertile women were analysed. The quality of the semen was measured by standard procedures recommended by WHO while C. trachomatis was detected by the PCR assay. Thirty-seven semen samples were positive for C. trachomatis (31.9%). Regarding semen analysis, no different values were observed between positive and negative samples to C. trachomatis. However, the presence of leucocytes and erythrocytes suggests an inflammatory process; however, these were high in negative samples to C. trachomatis. Furthermore, an association between low seminal volume at 1, 5 ml and the positivity to C. trachomatis was observed (OR=2, 1; CI95 % 1,16-3,07). The total semen volume is a contribution by the various accessory glands (this reflects the secretory activity of the glands); a low semen volume could be due to an obstruction of the ejaculatory duct or infection of accessory glands by C. trachomatis. More studies are necessary to identify the causes of a reduced semen volume.


Assuntos
Infecções por Chlamydia/complicações , Chlamydia trachomatis/isolamento & purificação , Infertilidade Feminina/microbiologia , Sêmen/microbiologia , Parceiros Sexuais , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise do Sêmen , Adulto Jovem
11.
Med. interna Méx ; 33(1): 126-131, ene.-feb. 2017. graf
Artigo em Espanhol | LILACS | ID: biblio-894242

RESUMO

Resumen La hipertensión pulmonar, por tradición, se ha clasificado en dos categorías: primaria o secundaria, con base en las causas o factores de riesgo asociados; sin embargo, a partir del Segundo Simposio Mundial en Hipertensión Pulmonar, realizado en Évian-les-Bains, Francia, en 1998, se estableció una clasificación clínica con el objetivo de individualizar las diferentes categorías de hipertensión pulmonar que comparten hallazgos patológicos, características hemodinámicas y tratamiento similar, estableciéndose, a partir de ello, cinco grupos de entidades claramente definidas. Se describe el caso de una paciente obstétrica con hipertensión arterial pulmonar grave a gran altitud, su abordaje y tratamiento, que tuvo evolución favorable. Las pacientes con cardiopatías congénitas pueden tener descompensación de la misma y volverse sintomáticas con un evento estresante que conlleva cambios fisiológicos que ponen a prueba su capacidad funcional, como es el embarazo. Éste es uno de los pocos casos existentes en la bibliografía acerca de cardiopatía congénita acianógena con hipertensión arterial pulmonar a gran altura en una paciente obstétrica.


Abstract Pulmonary hypertension has been traditionally classified in two categories: primary or secondary pulmonary hypertension, based on associated causes or risk factors; although, during the Second World Symposium in Pulmonary Hypertension held in Évian-les-Bains, France, in 1998, a new classification was developed, with the objective to individualize the different categories of pulmonary hypertension sharing pathologic features, hemodynamic characteristics and similar treatment and nowadays this classification includes five well distinguished types of pulmonary hypertension. We relate the case of an obstetric patient with severe pulmonary hypertension at high altitude, fortunately with favorable evolution. Patients with congenital cardiac disease can become symptomatic in front of a stressful event such as pregnancy. This is one of the few cases in literature about congenital cardiac disease with severe pulmonary hypertension in an obstetric patient.

12.
Exp Appl Acarol ; 68(1): 1-20, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26471983

RESUMO

Dispersal can be an essential factor affecting the biological control of pests. Tetranychus urticae Koch (Acari: Tetranychidae) is a cosmopolitan and polyphagous species that may reach the pest status in many cropping systems including clementine orchards, where it may be found both in the trees and the associated flora. In a previous study, we demonstrated that the use of a ground cover of Festuca arundinacea Schreber (Poaceae) offered a better regulation of T. urticae populations than traditional alternatives (bare soil, multifloral wild cover). Therefore, we decided to study the ambulatory dispersal of mites crawling up and down tree trunks in a clementine mandarin orchard grown in association with a F. arundinacea cover for one season. The highest ambulatory migration rate was upward from the cover to the canopy. Multivariate regressions showed that the dynamics of T. urticae populations in the trees was strongly related to that of Phytoseiidae mites, their main natural predators. Surprisingly, canopy populations were not related to those on the ground cover or to those dispersing from it. When T. urticae individuals collected from the ground cover, the tree trunk, and the canopy were subjected to molecular analyses, the optimal number of genetic clusters (demes) was two. One clustergrouped individuals dispersed from the ground cover (e.g. collected on tree trunks) and 27.5% of individuals collected in the ground cover. The second cluster grouped all the individuals collected from trees and 72.5% of those collected in the cover. Interestingly, none of the individuals collected from the tree canopies was grouped with the first deme. This result may be taken as indicative that grass-adapted T. urticae individuals are unable to satisfactorily colonize and establish on the trees and provides evidence that host adaptation can hamper dispersal and establishment of the ground cover deme on trees, contributing to a better natural regulation of this pest species in citrus.


Assuntos
Distribuição Animal , Citrus/parasitologia , Festuca/crescimento & desenvolvimento , Cadeia Alimentar , Tetranychidae/fisiologia , Agricultura , Animais , Citrus/crescimento & desenvolvimento , Controle Biológico de Vetores
13.
Rev. Fac. Cienc. Méd. Univ. Cuenca ; 32(1): 87-98, Abril 2014. tab
Artigo em Espanhol | LILACS | ID: biblio-1005628

RESUMO

La fenilcetonuria (PKU) es una enfermedad congénita de herencia autosómica recesiva, en la que existe el déficit de la enzima fenilalanina hidroxilasa, que produce lesión del sistema nervioso central (SNC). La incidencia mundial es de 1:20.000 recién nacidos vivos. (1,2) El tratamiento es a base de dieta con restricción de fenilalanina que debe mantenerse para toda la vida para prevenir el deterioro intelectual. (3,4) OBJETIVO: Identificar manifestaciones neurológicas de pacientes pediátricos con PKU. METODOLOGIA: Revisión bibliográfica de la literatura acerca de las manifestaciones neurológicas para PKU mediante la búsqueda electrónica en varias bases de datos (MEDLINE, EMBASE, COCHRANE, LILACS, PubMed) con límites en inglés y español de enero de 1970 a 2012. RESULTADOS: Se identifica un estudio transversal, un caso clínico, tres revisiones narrativas en poblaciones pediátricas y un caso clínico combinado niños y adultos. La discapacidad intelectual es la principal manifestación neurológica, el criterio diagnóstico primordial fue el valor sérico de fenilalanina. Existen 29 clasificaciones distintas sobre el punto de corte para hiperfenilalaninemia y 23 para fenilcetonuria.


Phenylketonuria (PKU) is a congenital autosomal recessive disease in which there is a shortage of the enzyme phenylalanine hydroxylase, which produces an injury to the central nervous system (CNS). The global incidence is about 1:20,000 live newborns. (1.2) The treatment is based on phenylalanine restricted diet which should be maintained for lifelong to prevent intellectual impairment. OBJECTIVE: To identify neurological manifestations of pediatric patients with PKU. METHODOLOGY: A review of the literature on the neurological manifestations for PKU by searching several electronic databases (MEDLINE , EMBASE, Cochrane , LILACS , PubMed) with English and Spanish limits from January 1970-2012. RESULTS: One cross-sectional study, one clinical case, three narrative reviews in pediatric populations and one clinical case combine children and adults. Intellectual disability is the main neurological manifestation; the primary diagnostic criterion was the serum level of phenylalanine. There are 29 different classifications on the cutoff to hyperphenylalaninemia and 23 for phenylketonuria


Assuntos
Pediatria , Fenilcetonúrias , Manifestações Neurológicas , Fenilalanina Hidroxilase , Bases de Dados Bibliográficas
14.
Eur J Surg Oncol ; 40(6): 713-8, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24560464

RESUMO

OBJECTIVE: To investigate the feasibility and safety of laparoscopy-assisted transvaginal resection of sigmoid cancer. METHODS: From 2009 to 2011 we performed 21 laparoscopy-assisted transvaginal resections of sigmoid cancers. RESULTS: The resected tumours were T1(6), T2(7) and T3(8). The median number of resected lymph nodes was 15. Median operative time was 150 min and no conversion to open technique was necessary. A total of eighteen patients tolerated a liquid diet 24 h after surgery. The average VAS pain score (0 = no pain, 10 = unbearable pain) was 1.8 after 24 h and 1.1 after 48 h. One patient experienced a postoperative ileus, two patients had vaginal spotting with serous flow and three patients suffered urinary tract infections. One patient developed a hernia at the umbilical trocar site that was operated on. None of the sexually active patients reported any differences in sexual activity pre-op and postop on a postoperative questionnaire. After a median of 25 (10-41) months of follow-up, all patients are alive and well, with no evidence of recurrent disease. CONCLUSION: Laparoscopy-assisted transvaginal resection of sigmoid cancer is feasible and safe in a selected group of patients.


Assuntos
Laparoscopia/métodos , Neoplasias do Colo Sigmoide/cirurgia , Idoso , Estudos de Viabilidade , Feminino , Humanos , Excisão de Linfonodo , Estadiamento de Neoplasias , Duração da Cirurgia , Medição da Dor , Complicações Pós-Operatórias/epidemiologia , Neoplasias do Colo Sigmoide/patologia , Resultado do Tratamento , Vagina
15.
Transplant Proc ; 45(10): 3719-23, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24315007

RESUMO

End-stage renal disease (ESRD) requires for its treatment permanent dialysis or kidney transplantation (KT). KT is the best clinical treatment, however, the early function of the allograft varies depending on multiple factors associated with cold ischemia time (CIT) and the allograft rejection process. It is known that serum creatinine is an insensitive and late marker for predicting graft recovery after KT, mainly in patients with delayed graft function (DGF). Neutrophil gelatinase-associated lipocalin (NGAL) is produced in the distal nephron and it is one of the most promising novel biomarkers for acute kidney injury (AKI) and chronic kidney disease (CKD). NGAL has been proposed to be a predictor of organ recovery from DGF after KT from donors after cardiac death. Because nonrenal diseases can also induce NGAL, more information is necessary to validate the sensitivity and specificity of urine and plasma NGAL in clinical samples. The exosomes are vesicles released into the urine from the kidney epithelium and they have been proposed as better source to explore as biomarker of renal dysfunction. The molecular composition of the urinary exosomes could be representative of the physiological or physiopathologic condition of the urinary system. We propose that determination of NGAL in urinary exosomes is a better predictor of kidney dysfunction after KT than other urinary fractions. We analyzed 15 kidney allograft recipients, with a mean age of 36 years (range, 16-60 years) and 75% were male: 11 living donors (LD) and 4 deceased donors (DD). The average length of CIT was 14 hours in DD and less than 1 hour in LD. Three patient developed DGF. Using Western blot analysis, NGAL was detectable in the cellular and exosomal fraction of the urine. The exosomes expressed higher levels of NGAL than the cellular fraction. The expression of NGAL was observed from the first day after transplantation. In the cellular fraction of the urine, no significant differences of NGAL were observed between the patients. However, the median of NGAL expression in the exosomes fraction was significantly higher in DD patient, from the first day after KT (P < .05). Moreover, we noticed that NGAL expression in exosomes remained elevated in the patients with DGF compared with non-DGF patients (P < .05). Considering the highest abundance of NGAL in the urinary exosomes and its correlation with DGF patients, we suggest the exosomal fraction as a more sensitive substrate to evaluate early biomarkers of DGF after KT.


Assuntos
Proteínas de Fase Aguda/urina , Função Retardada do Enxerto/etiologia , Exossomos/enzimologia , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Rim/enzimologia , Rim/cirurgia , Lipocalinas/urina , Proteínas Proto-Oncogênicas/urina , Adolescente , Adulto , Biomarcadores/urina , Western Blotting , Cadáver , Função Retardada do Enxerto/diagnóstico , Função Retardada do Enxerto/enzimologia , Função Retardada do Enxerto/fisiopatologia , Função Retardada do Enxerto/urina , Feminino , Humanos , Rim/fisiopatologia , Lipocalina-2 , Doadores Vivos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Fatores de Tempo , Resultado do Tratamento , Regulação para Cima , Adulto Jovem
16.
Cir Pediatr ; 26(2): 75-80, 2013 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-24228357

RESUMO

OBJECTIVE: Study the role of the pediatric urologist in the treatment of CAH and the satisfaction of families and patients to identify the psychosocial aspects that we can improve. MATERIAL AND METHODS: Retrospective study in girls with CAH treated in our center. We reviewed the medical records, analyzing the variables: place of birth, age at diagnosis, surgery, complications and follow up. Analysis of satisfaction and psychosocial aspects by telephone survey. RESULTS: Between 1975-2011, 25 girls with CAH have been treated in our center. Cystoscopy and vaginoscopy was performed before clitoroplasty in 68% (16 girls), adding vulvovaginoplasty in 40% and vaginal descent in the 20%. The mean age was 8.78 +/- 2.30 months. Vaginal stenosis was the main complication (36%), performing introitus plasty in two girls, vaginal expansion in other 2 and dilation of the rest. 15 surveys were made, all expressed satisfaction with treatment, and only 6.67% reported shortages information. With the aesthetic results of the genitoplasty 20% showed dissatisfaction. The family concern was constant at 60%, and sporadic in the rest. 13.3% required psychological support. Currently 80% have normal psychosocial life. CONCLUSION: The HSC requires a multidisciplinary approach right from birth to allow adequate psychosocial development. The pediatric urologist has an important weight in the multidisciplinary treatment. Realizing early feminizing genitoplasty decreases family impact and increases satisfaction. The prolonged follow-up will allow the detection and treatment of complications.


Assuntos
Hiperplasia Suprarrenal Congênita/psicologia , Hiperplasia Suprarrenal Congênita/cirurgia , Satisfação do Paciente , Criança , Feminino , Humanos , Pediatria , Papel do Médico , Estudos Retrospectivos , Inquéritos e Questionários , Urologia
17.
Cir Pediatr ; 25(1): 9-11, 2012 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-23113405

RESUMO

UNLABELLED: With the modern techniques, we can resolve almost the totallity of hypospadias. But there are patients with recurrent fistulas associated to uretral stenosis that can finish all the surgical possibilities. MATERIAL AND METHODS: Retrospective review. Lateral based flap uretroplasty consists in the exposition of the uretra, to reconstruct in one-stage the original neourethra with the lateral skin of the penis. RESULTS: From 2008, we have correct 5 patients with a mean age of 12,1 years (9-15) and a weight of 55,34 kg (22-98 kg). All of them were previously corrected 3 to 7 times, with recurrent fistulas. At the office, stenosis urethral was verified. Surgical correction was made in 90-110 minutes and results were positive in all patients, correcting the stenosis after a follow-up of more than a year. Only the oldest two patients had present minimally glans fistula. CONCLUSIONS: Lateral based flap urethroplasty is a useful technique for the correction of the complicated fistulas, allowing the correction of the fistulas and the stenosis of the urethra.


Assuntos
Hipospadia/cirurgia , Retalhos Cirúrgicos , Uretra/cirurgia , Adolescente , Criança , Humanos , Hipospadia/complicações , Masculino , Estudos Retrospectivos , Procedimentos Cirúrgicos Urológicos Masculinos/métodos
18.
Exp Appl Acarol ; 57(1): 37-51, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22349944

RESUMO

Tetranychus urticae Koch is a cosmopolitan phytophagous mite considered as the most polyphagous species among spider mites. Population genetic studies using molecular markers such as microsatellites have proven to be extremely informative to address questions about population structure, phylogeography and host preferences. The aim of this study was to increase the available molecular tools to gain insight into the genetic structure of T. urticae populations of citrus orchards, which might help in their management. Five microsatellite DNA libraries were developed using probes with the motifs CT, CTT, GT and CAC following the FIASCO protocol. Positive clones, those that included the insert with the microsatellite, were detected using the PIMA-PCR technique. Combinations of primers were designed on 22 out of 32 new microsatellites loci and their polymorphism was tested in four populations sampled along the eastern coast of Spain. Eleven successful amplifications were obtained. Cross amplification was tested in the tetranychids Aphlonobia histricina, Eutetranychus banksi, E. orientalis, Oligonychus perseae, Panonychus citri, Tetranychus evansi, T. okinawanus and T. turkestani, and the phytoseiids Amblyseius swirskii, A. cucumeris, A. andersoni, Euseius stipulatus, Neoseiulus barkeri, N. californicus, Phytoseiulus persimilis and Typhlodromus phialatus. Eight successful cross amplifications were obtained.


Assuntos
Polimorfismo Genético , Tetranychidae/genética , Animais , Biblioteca Gênica , Repetições de Microssatélites , Técnicas de Amplificação de Ácido Nucleico
19.
Cir Pediatr ; 25(3): 121-5, 2012 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-23480006

RESUMO

We present our experience in the design and development of a training program in paediatric and neonatal laparoscopic surgery, and the determination of face validity by the attendants. Data included in the present study was obtained from five consecutive editions of our Neonatal and Paediatric Laparoscopic Surgery Course. Our training model, with a total duration of 21 hours, begins with acquisition of knowledge in ergonomics and instrument concepts, after which the attendants develop basic laparoscopic dexterity through the performance of hands-on physical simulator tasks. During the second and third days of the course, surgeons undertook various surgical techniques hands-on animal model. At the end of the training program, a subjective evaluation questionnaire was handed out to the attendants, in which different didactic and organizational aspects were considered. We obtained a highly positive score on all questions concerning the different topics and techniques included in the training program (> or = 9 points over 10). 78,5% of the 54 attendants was in accordance with the course total duration, whilst 21,5% considered that it should be of longer duration. Regarding abilities' self assessment, 79,1% considered themselves capacitated to perform trained procedures on live patients. The presented training model has obtained a very positive valuation score, leading to an increase in the attendants' self confidence in the application of learned techniques to their clinical practice.


Assuntos
Laparoscopia/educação , Modelos Educacionais , Pediatria/educação , Especialidades Cirúrgicas/educação , Currículo , Neonatologia/educação
20.
Transplant Proc ; 43(6): 2344-6, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21839267

RESUMO

We present the case of a patient with past medical history of acute mieloblastic leukemia treated with a related, fully match alogenic bone marrow transplantation (BMT). He presented after BMT treatment graft versus host disease (GVHD) and thrombotic thrombocytopenic purpura. He also developed end-stage renal disease that required renal replacement therapy. A preemptive kidney transplant was performed. The haematopoiesis were in complete chimera and the patient developed tolerance to the kidney graft, requiring only minimal immunossupression because of his GVHD.


Assuntos
Transplante de Medula Óssea/efeitos adversos , Falência Renal Crônica/cirurgia , Transplante de Rim , Leucemia Mieloide Aguda/cirurgia , Tolerância ao Transplante , Adulto , Doença Enxerto-Hospedeiro/etiologia , Humanos , Imunossupressores/uso terapêutico , Falência Renal Crônica/etiologia , Transplante de Rim/imunologia , Masculino , Púrpura Trombocitopênica Trombótica/etiologia , Quimeras de Transplante , Resultado do Tratamento
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