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Spondylocarpotarsal synostosis syndrome (SCT) is a very rare skeletal dysplasia characterized by vertebral, carpal, and tarsal fusion; growth retardation; and mild dysmorphic facial features. Variants in FLNB, MYH3, and RFLNA have been implicated in this dysplasia. We report the clinical and radiological follow-up of seven SCT pediatric cases associated with biallelic FLNB variants, from four Argentinian families. The seven cases share previously described facial characteristics: round facies, large eyes, and wide based nose; all of them had variable height deficit, in one case noted early in life. Other findings included clinodactyly, joint limitation without bone fusion, neurosensorial hearing loss, and ophthalmological compromise. All cases presented with spinal fusion with variable severity and location, carpal bones coalition, and also delay in carpal ossification. The heterozygous carrier parents had normal height values to -2.5 score standard deviation, without skeletal defects detected. Three different FLNB variants, one nonsense and two frameshift, were detected, all of which were predicted to result in a truncated protein or are degraded by nonsense mediated decay. All cases had at least one copy of the nonsense variant, c.1128C> G; p. (Tyr376*), suggesting the presence of a common ancestor.
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Background: In December 2020, Sputnik V was incorporated to the National COVID-19 Immunization Plan in Argentina. Studies had shown 98% of antibody response rate. To date, data on immunogenicity and antibody persistence in Argentina are scarce.The objective was to assess humoral immune response after two doses of Sputnik V in Health Care Workers (HCWs) at the Ricardo Gutierrez Children's Hospital (RGCH). Methods: A prospective, cohort study in HCWs immunized with two doses of Sputnik V between February and March 2021. The following variables were assessed: age, gender, risk factors for severe COVID-19 or mortality, immunosuppressive therapy and history of SARS-CoV-2. Blood samples were drawn on the day of the first dose, 28 days and 180 days after the second. Anti-Spike IgG was measured using an ELISA assay. Differences in immune response were evaluated according to study variables. Comparison analyses between groups with or without history of infection were performed, with T-test and ANOVA or Mann-Whitney tests. For each subject, we compared baseline values with 28 days and 180 days after the second vaccine.STATA version 14 and R Sofware were used for data analyses. Results: We included 528 individuals, mean age 41.5 years, 82.9% female, 14.4% (76/528) reported previous SARS-CoV-2 infection.All subjects developed antibodies post-vaccination. At day 28, concentrations were significantly higher in previously infected than naïve subjects (p < 0.001) with no differences according to age, gender and comorbidities.At day 180, 17% (95% CI 13.17-21.53) of naïve subjects were negative. Antibody concentrations decreased significantly in all subjects except in those who reported SARS-CoV-2 infection after vaccination (n = 31). This last group had significantly higher antibody concentrations. Conclusion: This study assessed immune response to a new COVID-19 vaccine in real life in a cohort of subjects. Antibody concentrations varied according to history of SARS-COV-2 infection and decreased over time.
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PURPOSE: Patients with hereditary hypophosphatemic rickets are short and disproportionate and very little information is available on segmental growth, but the body disproportion at adulthood leads us to think that the growth velocity of legs is slower. METHODS: A total of 96 children were included and molecular testing was carried out in 42. Children who reached adult height were classified into two groups according to their compliance to conventional treatment (phosphate supplement and calcitriol). Individual growth records of height and sitting height/height were plotted using Argentine reference data in 96 children and growth curves were estimated by fitting Preece-Baines Model 1 in 19 of the children. RESULTS: Molecular testing revealed sequence deleterious alterations or large deletions in 36/42 patients. During childhood, 76% of children grew below - 1.88 standard deviation score (SDS) and 97% had body disproportion. During adolescence, the mean peak height velocity for the good and poor compliance to treatment groups was 7.8 (0.6) and 5.4 (0.4) cm/year in boys and 7.0 (0.7) and 5.2 (0.8) cm/year in girls, respectively. At adulthood, the median sitting height/height ratio was 2.32 and 6.21 SDS for the good and poor compliance to treatment groups, respectively. The mean pubertal growth spurt of the trunk was -0.8 (1.4) SDS, with a short pubertal growth spurt of - 1.8 (0.4) SDS for limbs in the good compliance group. Median adult height in 13/29 males and 30/67 females was -4.56 and -3.16 SDS, respectively. CONCLUSION: For all patients the growth spurt was slower, secondary to a short growth spurt of limbs, reaching a short adult height with body disproportion that was more prominent in the poor compliance group.
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Raquitismo Hipofosfatémico Familiar , Adolescente , Adulto , Estatura , Calcitriol , Niño , Raquitismo Hipofosfatémico Familiar/genética , Femenino , Humanos , Masculino , Fosfatos , Pubertad , Estudios RetrospectivosRESUMEN
Background: Children with achondroplasia (ACH) appear to lack a pubertal growth spurt in height.Aim To explore the growth spurt in height and its segments sitting height and leg length, in a large sample of ACH cases using growth curve modelling.Subjects and methods: Height and sitting height were measured longitudinally in ACH children, and the data were analysed using the SITAR (SuperImposition by Translation and Rotation) growth model, which estimates a mean growth curve and random effects for individuals defining differences in size, pubertal timing and intensity.Results: Out of 402 ACH children, 85 boys and 75 girls aged 7-20 years had respectively 529 and 454 measurements of height and sitting height, with leg length calculated by difference. SITAR analysis identified peaks in mean height velocity at 13.3 and 11.3 years in boys and girls, with peak velocities of 4.3 and 4.4 cm/year. Mean peak velocity for sitting height was 3.0 cm/year, but leg length showed no peak. The SITAR models explained 92% to 99% of the cross-sectional variance.Conclusion: ACH children do experience a growth spurt in puberty, but only half that of control children. The spurt is due entirely to sitting height, with no leg length spurt.
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Acondroplasia/fisiopatología , Estatura/fisiología , Crecimiento , Pierna/fisiología , Pubertad , Sedestación , Adolescente , Argentina , Niño , Femenino , Humanos , MasculinoRESUMEN
OBJECTIVE: The aim of this study was to evaluate the oncological outcomes of vaginal fertility-sparing surgery plus laparoscopic sentinel lymph node biopsy in patients with early cervical cancer over a 15-years period. PATIENTS AND METHODS: From March 2005 to April 2018, 38 patients diagnosed with early stage cervical cancer underwent vaginal fertility-sparing surgery at the Hospital Clínic, Barcelona, Spain. Patients with FIGO stage IA1 with lymphovascular space invasion and stage IA2 underwent simple trachelectomy and patients with stage IB1 underwent radical vaginal trachelectomy. All cases underwent laparoscopic sentinel lymph node biopsy. In the first 19 cases, laparoscopic bilateral pelvic lymphadenectomy was completed immediately after sentinel lymph node biopsy. Clinical and oncological follow-up data were collected. RESULTS: The median age at diagnosis was 33.5 years (range 22-44). Simple trachelectomy was performed in seven cases (18.4%) and vaginal radical trachelectomy in 31 (81.6%). Nineteen patients were exclusively treated with laparoscopic sentinel lymph node biopsy and 19 with sentinel lymph node biopsy plus laparoscopic bilateral pelvic lymphadenectomy. There were no significant differences between the two lymph node assessment groups regarding histology and tumour size. The median follow-up was 73 months (range 1-160 months). There were 4 recurrences (3 patients with IB1 and 1 with IA2). Two occurred in the sentinel lymph node biopsy group and 2 in the sentinel lymph node biopsy plus laparoscopic bilateral pelvic lymphadenectomy group. All the recurrences were diagnosed in patients with adenocarcinoma and in 3 patients without lymphovascular space invasion. CONCLUSION: Vaginal fertility-sparing surgery combined with laparoscopic sentinel lymph node biopsy seems to be a safe oncological procedure in selected patients with early stage cervical cancer. Further studies are needed to clarify the role of sentinel lymph node biopsy in fertility- sparing surgery in cervical cancer. Adenocarcinoma histology seems to be an important risk factor for recurrence.
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Laparoscopía , Ganglio Linfático Centinela , Neoplasias del Cuello Uterino , Adulto , Femenino , Estudios de Seguimiento , Humanos , Escisión del Ganglio Linfático , Recurrencia Local de Neoplasia , Estadificación de Neoplasias , Estudios Retrospectivos , Ganglio Linfático Centinela/patología , España , Neoplasias del Cuello Uterino/patología , Neoplasias del Cuello Uterino/cirugía , Adulto JovenRESUMEN
PURPOSE: To determine whether brachytherapy with a single hypofractionated dose of 7 Gy provides the similar vaginal-cuff relapses and safety profile in terms of complications compared to schedules of 2 or 3 fractions of lower doses in patients treated previously with external beam irradiation in postoperative endometrial carcinoma. METHODS/MATERIAL: From June 2003 to December 2016, 325 patients were treated with 3 different schedules of high-dose-rate brachytherapy after external beam irradiation for postoperative endometrial carcinoma. The patients were divided into 3 groups: Group-1: 125 patients were treated with 3 fractions of 4-6 Gy per fraction (3 fractions/week) between 2003 and 2008; Group-2: 93 patients were treated with 2 consecutive daily fractions of 5-6 Gy between 2008 and 2011; Group-3: 107 patients received a single fraction of 7 Gy between 2011 and 2016. Bladder and rectum complications were assessed using RTOG scores and with the objective scores of LENT-SOMA for the vagina. STATISTICS: the chi-square test. RESULTS: The mean follow-up of Groups 1, 2 and 3 was 95, 67 and 51 months, respectively. Three patients in Group-1, 2 in Group-2, 1 in Group-3 developed vaginal-cuff relapse (p = 0.68). No differences were found in late toxicity among the three groups. CONCLUSIONS: One single dose of 7 Gy is safe and effective and may be the best treatment schedule with a similar incidence of vaginal-cuff relapses, complications and patient comfort with less hospital attendance.
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Braquiterapia , Fraccionamiento de la Dosis de Radiación , Neoplasias Endometriales/radioterapia , Anciano , Braquiterapia/métodos , Distribución de Chi-Cuadrado , Neoplasias Endometriales/tratamiento farmacológico , Neoplasias Endometriales/patología , Neoplasias Endometriales/cirugía , Femenino , Humanos , Órganos en Riesgo/efectos de la radiación , Periodo Posoperatorio , Hipofraccionamiento de la Dosis de Radiación , Recto/efectos de la radiación , Vejiga Urinaria/efectos de la radiación , Vagina/efectos de la radiaciónRESUMEN
INTRODUCTION: The relationship between socioeconomic status and incidence or stroke mortality rates is well established. The evidence of an association between this variable and survival is less conclusive. Level of education is a widely-used measure of socioeconomic status in elderly people. AIM: To assess the relationship between one-year survival after stroke and level of education. PATIENTS AND METHODS: We analysed data on 544 consecutively recruited patients admitted for acute ischaemic stroke in one the public hospitals of Bizkaia (Spain). Data were obtained through interviews with patients or accompanying persons and from medical records. We studied variables concerning previous functional status, stroke severity, cardiovascular risk factors and stroke care provided. Patients were followed up for 12 months and the dates of any deaths were recorded. Univariate and multivariate analyses were carried out to assess the relationship between level of education and survival. RESULTS: A total of 203 (86%) women and 273 (88.6%) men were alive at 12 months. In both sexes, individuals with a lower level of education had poorer previous functional status, more severe strokes and higher mortality rates. In the multivariate analysis, the association between level of education and survival remained significant in the adjusted model in men. CONCLUSIONS: In our setting, there are differences in the survival of patients with ischaemic stroke as a function of level of education. The impact of this factor was greater in men than women.
TITLE: Relacion del nivel de estudios con la supervivencia en el primer año tras un ictus isquemico.Introduccion. La relacion del nivel socioeconomico con las tasas de incidencia y de mortalidad por ictus esta bien establecida. La evidencia de la relacion con la supervivencia de los pacientes tras el ictus es menos concluyente. El nivel educativo es una medida de nivel socioeconomico muy utilizada en estudios con personas de edad avanzada. Objetivo. Estudiar la relacion de la supervivencia en el primer año tras el ictus con el nivel de estudios. Pacientes y metodos. Se analizaron los datos de 544 pacientes con ictus isquemico agudo ingresados en los hospitales publicos de Bizkaia (España), seleccionados consecutivamente. Se obtuvieron datos por entrevista a pacientes o acompañantes y de historia clinica. Se estudiaron variables sobre situacion funcional previa, gravedad del ictus, factores de riesgo cardiovascular y de atencion al ictus. Se hizo un seguimiento de 12 meses para registrar, en su caso, la fecha de fallecimiento. Se realizo un analisis univariado y multivariado para identificar la relacion del nivel de estudios con la supervivencia. Resultados. Tras 12 meses, sobrevivian 203 mujeres (86%) y 273 hombres (88,6%). En ambos sexos, las personas con menos estudios tuvieron peor situacion funcional previa, mayor gravedad y fallecieron en mayor proporcion. En el analisis multivariado, el nivel de estudios se mantuvo asociado con la supervivencia en el modelo ajustado para los hombres. Conclusiones. La diversidad de nivel educativo marca diferencias en la supervivencia de los pacientes con ictus isquemico en nuestro entorno. El impacto de este factor fue mayor en los hombres que en las mujeres.
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Isquemia Encefálica/mortalidad , Escolaridad , Accidente Cerebrovascular/mortalidad , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Accidente Cerebrovascular/etiología , Tasa de Supervivencia , Factores de TiempoRESUMEN
Los quistes foliculares pigmentados son quistes epiteliales muy infrecuentes. Se describen como lesiones papulares pigmentadas, de carácter benigno, que generalmente se ubican en la cabeza o cuello. Surgen de manera única, siendo la variante múltiple aún menos frecuente. A continuación, se presenta el caso de un hombre joven, con antecedentes de VIH en terapia antiretroviral, quien consultó por la presencia de múltiples lesiones perianales, asintomáticas, de larga data, cuyo resultado histológico resultó compatible con: quistes pigmentados foliculares múltiples.
Pigmented follicular cysts are a very rare epithelial cysts. They are described as a benign papular lesion, that is usually located in the head or neck. They arise as unique, being the multiple variant even less frequent. We present the case of a young man with a history of HIV in antiretroviral therapy, who consulted for the presence of multiple, long-term asymptomatic perianal lesions whose histological result was: compatible with multiple follicular pigmented cysts.
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HPV-based screening provides greater protection against cervical cancer (CC) than cytology-based strategies. Currently, several molecular diagnostic assays for the detection of human papillomavirus (HPV) are available. In this study, we analyzed 5 different HPV testing and genotyping techniques (Hybrid Capture 2 [HC2; Qiagen, Hilden, Germany], AnyplexTMII HPV28 [Anyplex; Seegene, Seoul, Korea], Linear Array [Roche, Branchburg, NJ, USA], GP5+/6+ PCR-EIA-RH [Labo Bio-medical Products, Rijswijk, The Netherlands] and CLART2 [Genomica, Madrid, Spain]) in 295 women referred to the hospital Colposcopy Clinic from 2007 to 2008 due to positive HPV test results or an abnormal Pap test. DNA extraction for HPV genotyping was performed in cervical sample specimens after Pap test and HPV detection by HC2. The inclusion criteria were: (1) adequate cervical sampling with sufficient material for the Pap test and HPV detection and genotyping, and (2) colposcopically-directed biopsy and/or endocervical curettage. HC2 showed the highest sensitivity for high-grade squamous intraepithelial lesion and CC (HSIL+) detection (96.1%), but all the HPV genotyping tests showed a higher specificity. (Anyplex 86.8%; Linear Array 86.0%; GP5+/6+ 78.8%; CLART2 76.5%). The agreement between HC2 results and the other techniques was similar: 82.4%, kappa=0.650 for Anyplex; 83.4%, kappa=0.670 for Linear Array, 79.93%, kappa=0.609 for GP5+/6+ and 82.4%, kappa=0.654 for CLART2. HPV 16 and/or 18 infection was a risk factor for underlying HSIL+ in the univariate analysis. Anyplex showed the highest risk of underlying HSIL+ after positive HPV 16 and/or 18 tests (OR 31.1; 95% CI 12.1-80.0).
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Cuello del Útero/virología , Enfermedades de los Genitales Femeninos/diagnóstico , Técnicas de Genotipaje , Técnicas de Diagnóstico Molecular/métodos , Papillomaviridae/aislamiento & purificación , Infecciones por Papillomavirus/diagnóstico , Adolescente , Adulto , Anciano , Biopsia , Cuello del Útero/patología , Detección Precoz del Cáncer/métodos , Femenino , Enfermedades de los Genitales Femeninos/epidemiología , Enfermedades de los Genitales Femeninos/virología , Genotipo , Papillomavirus Humano 16/genética , Papillomavirus Humano 16/aislamiento & purificación , Humanos , Tamizaje Masivo , Persona de Mediana Edad , Papillomaviridae/genética , Infecciones por Papillomavirus/epidemiología , Infecciones por Papillomavirus/virología , Juego de Reactivos para Diagnóstico , Sensibilidad y Especificidad , España/epidemiología , Lesiones Intraepiteliales Escamosas de Cuello Uterino/diagnóstico , Lesiones Intraepiteliales Escamosas de Cuello Uterino/virología , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/virología , Adulto JovenRESUMEN
OBJECTIVE: To compare the sensitivity of high-risk human papillomavirus (hrHPV) and genotype detection in self-collected urine samples in the morning (U1), and later on (U2), brush-based self-samples (SS), and clinician-taken smears (CTS) for detecting cervical intraepithelial neoplasia grade 2+ (CIN2+) in a colposcopic referral population. DESIGN: Cross-sectional single-centre study. SETTING: A colposcopy clinic in Spain. POPULATION: A cohort of 113 women referred for colposcopy after an abnormal Pap smear. METHODS: Women undergoing colposcopy with biopsy for abnormal Pap smears were sent a device (Colli-Pee™, Novosanis, Wijnegem, Belgium) to collect U1 on the morning of colposcopy. U2, CTS, and SS (Evalyn brush™, Rovers Medical Devices B.V., Oss, the Netherlands) were also analysed. All samples were tested for HPV DNA using the analytically sensitive SPF10-DEIA-LiPA25 assay and the clinically validated GP5+/6+-EIA-LMNX. MAIN OUTCOME MEASURES: Histologically confirmed CIN2+ and hrHPV positivity for 14 high-risk HPV types. RESULTS: Samples from 91 patients were analysed. All CIN3 cases (n = 6) tested positive for hrHPV in CTS, SS, U1, and U2 with both HPV assays. Sensitivity for CIN2+ with the SPF10 system was 100, 100, 95, and 100%, respectively. With the GP5+/6+ assay, sensitivity was 95% in all sample types. The sensitivities and specificities for both tests on each of the sample types did not significantly differ. There was 10-14% discordance on hrHPV genotype. CONCLUSIONS: CIN2+ detection using HPV testing of U1 shows a sensitivity similar to that of CTS or brush-based SS, and is convenient. There was substantial to almost excellent agreement between all samples on genotype with both hrHPV assays. There was no advantage in testing U1 compared with U2 samples. TWEETABLE ABSTRACT: Similar CIN2+ sensitivity for HPV testing in first-void urine, physician-taken smear and brush-based self-sample.
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ADN Viral/orina , Autoevaluación Diagnóstica , Prueba de Papanicolaou , Infecciones por Papillomavirus/diagnóstico , Displasia del Cuello del Útero/diagnóstico , Neoplasias del Cuello Uterino/diagnóstico , Frotis Vaginal/métodos , Adolescente , Adulto , Biomarcadores/orina , Colposcopía , Estudios Transversales , Femenino , Humanos , Persona de Mediana Edad , Papillomaviridae/genética , Papillomaviridae/aislamiento & purificación , Infecciones por Papillomavirus/complicaciones , Infecciones por Papillomavirus/genética , Infecciones por Papillomavirus/orina , Estudios Prospectivos , Sensibilidad y Especificidad , Triaje , Neoplasias del Cuello Uterino/patología , Neoplasias del Cuello Uterino/orina , Neoplasias del Cuello Uterino/virología , Adulto Joven , Displasia del Cuello del Útero/patología , Displasia del Cuello del Útero/orina , Displasia del Cuello del Útero/virologíaRESUMEN
OBJECTIVE: To evaluate whether colposcopic measurement of the lesion size at diagnosis and/or human papillomavirus (HPV) genotyping can predict the absence of dysplasia in a large loop excision of the transformation zone (LLETZ) specimen in women treated for squamous intraepithelial lesions/cervical intraepithelial neoplasia (SIL/CIN). DESIGN: Prospective observational study. SETTING: Tertiary university hospital. POPULATION: A cohort of 116 women who underwent LLETZ because of biopsy-proven low-grade SIL/CIN that had persisted for 2 years, or because of a high-grade SIL/CIN diagnosed in the referral visit and squamocolumnar junction completely visible (types 1 or 2, according to the International Federation of Cervical Pathology and Colposcopy, IFCPC). METHODS: After LLETZ the women were classified by histology into the study group (absence of SIL/CIN in the surgical specimen, 28/116, 24.1%) and the control group (SIL/CIN in the LLETZ specimen, 88/116, 75.9%). MAIN OUTCOME MEASURES: The size of the lesion determined in the diagnostic colposcopy and the HPV genotype were evaluated in all women. RESULTS: The lesion size was significantly smaller in the study group (25.7 ± 37.8 versus 84.5 ± 81.7 mm2 ; P < 0.001). A lesion size of ≤12 mm2 and HPV types other than 16 or 18 were associated with an absence of SIL/CIN in the LLETZ specimen (P < 0.001 and P = 0.016, respectively). On multivariate analysis only a lesion size of ≤12 mm2 predicted the absence of SIL/CIN (odds ratio, OR 10.6; 95% confidence interval, 95% CI 3.6-30.6; P < 0.001). A lesion size of ≤12 mm2 had a specificity of 90.9% (95% CI 83.0-95.3%) and a negative predictive value of 86.0% (95% CI 77.5-91.6%) to predict the absence of SIL/CIN in the surgical specimen. CONCLUSIONS: Small lesion size in diagnostic colposcopy could predict the absence of SIL/CIN in the LLETZ specimen. Colposcopy measurement of lesion size prior to LLETZ may avoid unnecessary treatment. TWEETABLE ABSTRACT: Small lesion size in colposcopic evaluation might predict the absence of SIL/CIN in an LLETZ specimen.
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Colposcopía/métodos , Pruebas de ADN del Papillomavirus Humano/métodos , Lesiones Intraepiteliales Escamosas de Cuello Uterino/diagnóstico , Displasia del Cuello del Útero/diagnóstico , Neoplasias del Cuello Uterino/diagnóstico , Adulto , Cuello del Útero/patología , Cuello del Útero/cirugía , Femenino , Estudios de Seguimiento , Genotipo , Humanos , Persona de Mediana Edad , Papillomaviridae/genética , Infecciones por Papillomavirus/diagnóstico , Estudios Prospectivos , Lesiones Intraepiteliales Escamosas de Cuello Uterino/patología , Lesiones Intraepiteliales Escamosas de Cuello Uterino/cirugía , Neoplasias del Cuello Uterino/patología , Displasia del Cuello del Útero/patología , Displasia del Cuello del Útero/cirugíaRESUMEN
Apocarotenoids are metabolites originated by degradation of carotenes through the loss of carbon atoms placed at the side chain of their structure as consequence of oxydative reactions. We present here the first review of apocarotenoids in the fungi mucorales Phycomyces blakesleeanus, Blakeslea trispora and Mucor mucedo. This review is divided into two parts: the first one presents their structures and sources, whereas the second part is dedicated to their chemical synthesis.
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Carotenoides/química , Carotenoides/síntesis química , Mucorales/química , Estructura MolecularRESUMEN
Para el seguimiento del crecimiento de niños con severa malformación de miembros inferiores o de columna, disponer de referencias de estatura sentada (ES) y de miembros inferiores (MI) según edad es una herramienta de gran utilidad. Objetivos: estimar los centilos de ES y MI para ambos sexos, entre 0 a 18 años de edad y evaluar la utilidad de estas referencias en niños con malformaciones localizadas en MI o columna. Material y Métodos: los centilos 3°,10°, 25°, 50°, 75°, 90° y 97° de ES y MI según Edad (SE/E y MI/E) fueron estimados en una población sana de 4803 y 4818 varones y mujeres respectivamente, por el método LMS que utiliza la transformación BOX-COX para normalizar la distribución de los datos a cada edad. Resultados: en los primeros años de edad, la mediana de ES en ambos sexos fue similar. Entre los 11 y 13 años, las niñas tuvieron una ES mayor a la de los varones, pero luego se invirtió y se mantuvo así hasta la adultez. En MI la mediana también fue similar en ambos sexos durante los primeros años, pero a partir de los 12 el incremento fue mayor en los varones. A los 12 años la diferencia fue 0,71 cm, finalizando con 9 cm a los 18 años. El uso de estas referencias en niños con malformaciones de columna ó MI mostró un crecimiento patológico de estatura total y del segmento corporal comprometido, con un tamaño y crecimiento normal del segmento no afectado. Conclusión: los centilos de segmentos corporales según la edad constituyen una herramienta útil para la supervisión del crecimiento de niños con severa malformación de columna o miembros inferiores (AU)
For the follow-up of growth of children with severe lower-limb or spinal deformities, reference values for sitting height (SH) and lower-limb (LL) length according to age are extremely useful. Aims: To define percentiles of SH and LL for both sexes between 0 and 18 years of age and evaluate the usefulness of these references in children with LL or spinal deformities. Material and Methods: 3rd,10th, 25th, 50th, 75th, 90th, and 97th percentiles for SH and LL according to age (SE/age and LL/age) were estimated for a healthy population of 4803 and 4818 boys and girls, respectively, with the LMS method that uses the Box-Cox power exponential (BCPE) to normalize data distribution for age. Results: In the first years of life, mean SH was similar for both sexes. Between 11 and 13 years of age, girls had a greater SH than boys, but this relationship subsequently inverted and remained so until adulthood. The median length of LL was also similar in the first years of life, but after 12 years of age growth was increased in boys. At 12 years of age the difference was 0.71 cm, with a final difference of 9 cm at 18 years of age. The use of these reference values in children with spinal or LL deformities showed pathological growth of the whole body and the body segment involved with normal growth of the nonaffected segment. Conclusion: percentiles of the body segments according to age are a useful tool for the monitoring of growth of children with severe deformities of the spine or lower limbs (AU)
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Humanos , Recién Nacido , Lactante , Preescolar , Niño , Adolescente , Antropometría , Argentina , Estatura , Gráficos de Crecimiento , Extremidad Inferior/crecimiento & desarrollo , Estándares de Referencia , Columna Vertebral/crecimiento & desarrolloRESUMEN
PURPOSE OF INVESTIGATION: To determine the accuracy of carcinoembryonic antigen (CEA), cancer antigen (CA) 15.3, CA 19.9, and CA 125 for diagnosis of mucinous ovarian cancer (MOC). MATERIALS AND METHODS: Samples were collected preoperatively from patients with mucinous ovarian tumor. The following variables were analysed: CEA, CA 15.3, CA 19.9, and CA 125. After surgery, histology and stage were determined according to FIGO-classification. Patients were classified into two groups according to the diagnosis of ovarian biopsy: NOT MOC and MOC. RESULTS: The authors studied 94 patients with ages between 15 and 80 years (median = 43). Eighty-two patients were NOT MOC (68 mucinous ovarian cystadenomas and 14 mucinous borderline ovarian tumors) and 12 were MOC. All MOC patients were in FIGO Stages I or II. No statistically significant differences were found between MOC and NOT MOC patients according to CEA and CA 15.3 (p > 0.05). All MOC patients had abnormal serum CA 19.9 and/or CA 125 levels. Using CA 19.9 and CA 125, we performed a linear regression formula CA 19.9+125 = 0.00102 x CA 19.9 + 0.00057 x CA 125. AUCs values were 0.862 (p = 0.0002), 0.829 (p = 0.0021), and 0.911 (p = 0.0001) for CA 19.9, CA 125, and CA 19.9 + 125, respectively. CA 19.9 + 125 exhibited 95.1% specificity and 66.7% sensitivity, increased by 16.7% sensitivity compared with using only CA 19.9 or CA 125. CONCLUSIONS: Preoperative CA 19.9 and CA 125 levels showed high diagnosis efficacy to predict whether a mucinous ovarian tumour is benign or malignant. Using both markers simultaneously increases the sensitivity for diagnosis of MOC.
Asunto(s)
Adenocarcinoma Mucinoso/diagnóstico , Antígeno Ca-125/sangre , Antígeno CA-19-9/sangre , Neoplasias Ováricas/diagnóstico , Adenocarcinoma Mucinoso/sangre , Adenocarcinoma Mucinoso/patología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antígeno Carcinoembrionario/análisis , Femenino , Humanos , Persona de Mediana Edad , Estadificación de Neoplasias , Neoplasias Ováricas/sangre , Neoplasias Ováricas/patología , Adulto JovenRESUMEN
BACKGROUND: Renal failure is one of the main causes of death in patients with Fabry disease (FD). Due to the low prevalence of FD, delayed diagnosis and misdiagnosis, often the correct diagnosis is made when organ damage is already present. Early recognition of the disease would allow the prevention of severe complications and the premature death of patients with FD. OBJECTIVE: We present here the PrEFiNE project, which includes a wide spectrum of activities with the aim of improve knowledge and diagnosis of FD. The project is sponsored by Shire Iberia (http://shireiberica.com/) METHODS: From January 2016 to the end of 2017 several activities will be carried out, starting with a survey to evaluate current FD knowledge among nephrologists; in addition some studies to assess prevalence of this disease will be performed. One study will include patients receiving dialysis, another study will cover kidney transplant patients, and a pilot study in chronic kidney disease in stage 3-5 predialysis. Also planned is a pharmacoeconomic study to focus on burden of FD. At the same time medical education activities will be conducted both on line and on site. Plan for dissemination will include medical publications and diffusion to media. PrEFiNE Project will finish with the publication of a compilation book on FD in Nephrology including all planned activities and proposing recommendations based on results and detected unmet needs. PrEfiNE Plan will be coordinated by severa scientific committees, one at national level and 10 other regionals comittees, tha will be responsible to ensure the maximum scientific quality of proposed activities. An advisory board will supervise the project. DISCUSSION: PrEfiNE project will evaluate an action plan focused on improving FD knowledge to make necessary recommendations for an early recognition of the disease. In addition will generate a plan to improve previously undetected needs.