The Beneficial Effects of Prenatal Biotin Supplementation in a Rat Model of Intrauterine Caloric Restriction to Prevent Cardiometabolic Risk in Adult Female Offspring.

Numerous studies indicate that intrauterine growth restriction (IUGR) can predispose individuals to metabolic syndrome (MetS) in adulthood. Several reports have demonstrated that pharmacological concentrations of biotin have therapeutic effects on MetS. The present study investigated the beneficial effects of prenatal biotin supplementation in a rat model of intrauterine caloric restriction to prevent cardiometabolic risk in adult female offspring fed fructose after weaning. Female rats were exposed to a control (C) diet or global caloric restriction (20%) (GCR), with biotin (GCRB) supplementation (2 mg/kg) during pregnancy. Female offspring were exposed to 20% fructose (F) in drinking water for 16 weeks after weaning (C, C/F, GCR/F, and GCRB/F). The study assessed various metabolic parameters including Lee's index, body weight, feed conversion ratio, caloric intake, glucose tolerance, insulin resistance, lipid profile, hepatic triglycerides, blood pressure, and arterial vasoconstriction. Results showed that GCR and GCRB dams had reduced weights compared to C dams. Offspring of GCRB/F and GCR/F dams had lower body weight and Lee's index than C/F offspring. Maternal biotin supplementation in the GCRB/F group significantly mitigated the adverse effects of fructose intake, including hypertriglyceridemia, hypercholesterolemia, hepatic steatosis, glucose and insulin resistance, hypertension, and arterial hyperresponsiveness. This study concludes that prenatal biotin supplementation can protect against cardiometabolic risk in adult female offspring exposed to postnatal fructose, highlighting its potential therapeutic benefits.

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.

BACKGROUND: Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha-glucosidase is the standard of care; however, some patients develop anti-recombinant human acid alpha-glucosidase antibodies, leading to reduced efficacy. This case report presents two infants with early-onset Pompe disease who developed IgG antibodies to enzyme replacement therapy and were subsequently treated with methotrexate, highlighting the importance of monitoring antibody development and exploring alternative therapeutic approaches. CASE PRESENTATION: Patient 1, a 10-month-old female from Bogota, Colombia, presented with generalized hypotonia, macroglossia, hyporeflexia, and mild left ventricular hypertrophy. Diagnostic tests confirmed early-onset Pompe disease, and enzyme replacement therapy was started at 12 months. Due to a lack of improvement and high anti-recombinant human acid alpha-glucosidase IgG antibody titers (1:1800), methotrexate was started at 18 months. After 8 months of combined therapy, antibody titers were negative and significant improvement in motor function was observed using the Gross Motor Function Measure 88. Patient 2, a 7-year-old female from Bogota, Colombia, was diagnosed with early-onset Pompe disease at 12 months and initiated enzyme replacement therapy. At 5 years of age, she experienced frequent falls and grip strength alterations. Functional tests revealed motor development delay, generalized hypotonia, and positive anti-recombinant human acid alpha-glucosidase IgG antibody titers (6400). Methotrexate was initiated, leading to a reduction in falls and antibody titers (3200) after 6 months, with no adverse events or complications. Motor function improvement was assessed using the Motor Function Measurement 32. CONCLUSIONS: The presented cases highlight the importance of monitoring patients for anti-recombinant human acid alpha-glucosidase antibody development during enzyme replacement therapy and the potential benefit of methotrexate as an immunomodulatory agent in early-onset Pompe disease. Early diagnosis and timely initiation of enzyme replacement therapy, combined with prophylactic immune tolerance induction, may improve clinical outcomes and reduce the development of anti-recombinant human acid alpha-glucosidase antibodies. The cases also highlight the importance of objective motor function assessment tools, such as Gross Motor Function Measure 88 and Motor Function Measurement 32, in assessing treatment response. Further research is needed to optimize treatment regimens, monitor long-term effects, and address the current limitations of enzyme replacement therapy in Pompe disease.

Vulvar Reconstruction with Keystone Flaps after Radical Vulvectomy.

Vulvar cancer is a rare oncologic pathology, accounting for only 3%-5% of all gynecologic neoplasms, with squamous cell carcinoma responsible for more than 90% of these cases; the remaining 10% includes Paget disease, lichen sclerosus, and vulvar melanoma. Radical vulvectomy has become the gold standard treatment due to the high recurrence rate and effective local control in patients with squamous cell carcinoma stages IB to IVA. To address these needs, various reconstructive options have been reported in the literature, each potentially offering different results due to their diverse nature. We present a series of patients who underwent vulvar reconstruction with the keystone flap, describing the surgical technique, complication rate, advantages over other techniques, and long-term follow-up.

CARL y MPL en pacientes cubanos con trombocitemia esencial y mielofibrosis primaria / CARL and MPL in Cuban patients with essential thrombocythemia and primary mielofibrosi

Introducción: La trombocitemia esencial y la mielofibrosis primaria comparten la presencia de las mutaciones JAK2, CALR y MPL. En total, están presentes en poco más del 90 % de los pacientes con estas enfermedades. Objetivos: Determinar el comportamiento de las mutaciones más frecuentes en los genes MPL y CALR en pacientes cubanos. Métodos: Se realizó un estudio ambispectivo, descriptivo y longitudinal en el Instituto de Hematología e Inmunología de Cuba, entre los años 2010 y 2020. Se incluyeron todos los pacientes con sospecha de trombocitemia esencial y de mielofibrosis primaria con muestras de ADN válidas. Se les identificaron las mutaciones CALR y MPL por PCR en tiempo real. Resultados: De los 53 pacientes estudiados, el 67,9 % fueron diagnosticados con trombocitemia esencial, el 22,6 % con mielofibrosis primaria. En el 90,6 % se pudo detectar alguna de las mutaciones conductoras; el 67,9 % fueron positivos a la mutación JAK2V617F, el 13,2 % a las mutaciones en el gen que codifica para la calreticulina y en el 9,4 % se identificaron mutaciones en el gen MPL. Conclusiones: El comportamiento de las mutaciones conductoras JAK2V617F, CALR y MPL en la muestra de pacientes cubanos con trombocitemia esencial y mielofibrosis primaria estuvo en correspondencia con lo descrito en la mayoría de las investigaciones.

Introduction: Essential thrombocythemia and primary myelofibrosis share the presence of JAK2, CALR and MPL mutations. In total, they comprise slightly more than 90 % of patients with these diseases. Objectives: To determine the behavior of the most frequent mutations in MPL and CALR genes in Cuban patients. Methods: An ambispective, descriptive and longitudinal study was performed at the Institute of Hematology and Immunology of Cuba, between 2010 and 2020. All patients with suspected essential thrombocythemia and primary myelofibrosis with valid DNA samples were included. CALR and MPL mutations were identified by real-time PCR. Results: Of the 53 patients studied, 67.9% were diagnosed with essential thrombocythemia, and 22.6% with primary myelofibrosis. In 90.6% it was possible to detect any of the driver mutations: 67.9% were positive for the JAK2V617F mutation, 13.2% for mutations in the gene coding for calreticulin and in 9.4% mutations in the MPL gene were identified. Conclusions: The behavior of the driver mutations JAK2V617F, CALR and MPL in the sample of Cuban patients with essential thrombocythemia and primary myelofibrosis was in correspondence with what is described in the majority of the investigations.

Protocol to Induce the Temporary Opening of the Blood-Brain Barrier with Short-Time Focused Ultrasound in Rats.

Brain neurodegenerative diseases are central nervous system (CNS) affections typically common in older adults. A new therapeutic approach for them consists of providing specific drugs to the CNS through blood circulation; however, the Blood-Brain Barrier (BBB) prevents almost 100% of neurotherapeutics from reaching the brain. There are indications that Focused Ultrasound (FUS), temporarily placed in the BBB, can achieve a controlled increase in temperature at its focus, allowing temporary, localized, and reversible opening of this barrier, which facilitates the temporary delivery of specific drugs. This work presents a FUS-based protocol for the local, temporary, and reversible opening of the BBB in Wistar rats. The proposed protocol specifies certain power, treatment times, and duty cycle to controllably increase the temperature at the region of interest, i.e., the substantia nigra. Numerical simulations using commercial software based on the finite element method were carried out to determine the optimal size of the craniotomies for nearly full-acoustic transmission. Experiments in rats were performed with the parameters used during computational simulations to determine the adequate opening of the BBB. For this, craniotomies of different sizes were made at coordinates of the substantia nigra, and FUS was applied from the exterior. The opening of the BBB was evaluated using Evans Blue (EB) as an indicator of the crossing of the dye from the blood vessels to brain tissue. Numerical simulations demonstrated a major distance reached by the ultrasound focus with a bigger diameter. Experimental results show the local, temporary, and reversible opening of the BBB through a 10 mm diameter craniotomy, which effectively allowed placing the ultrasound focus over the substantia nigra, unlike a 6 mm diameter craniotomy in which there is a deviation of the focus through that window. Moreover, from these results, it was also determined that the disruption of the BBB was reversible, with an opening duration of 6 h after FUS application. The experimental work developed in this study resulted in a minimally invasive method for the temporary opening of the BBB.

Development and Evaluation of Phytosomes Containing Callistemon citrinus Leaf Extract: A Preclinical Approach for the Treatment of Obesity in a Rodent Model.

Callistemon citrinus has several biological effects; it is anti-inflammatory, anti-obesogenic, antioxidant, hepatoprotection, and chemoprotective. Its bioactive compounds include terpenoids, phenolic acids, and flavonoids which have low oral bioavailability and absorption. This study aimed at developing phytosomes of C. citrinus to improve oral bioavailability and absorption. Phytosomes were formulated with soybean phosphatidylcholine and C. citrinus leaf extract using the thin layer sonication method. Phytosomes were evaluated by scanning electron microscopy (SEM), entrapment efficiency, solubility, and particle size determination. Antioxidant capacity and total phenolic, flavonoid, and terpenoid contents were also measured. The in vivo anti-obesogenic activity was evaluated. Phytosomes loaded with C. citrinus (P C.c) extract had small spherical shapes. The average particle size was 129.98 ± 18.30 nm, encapsulation efficiency 80.49 ± 0.07%, and solubility 90.00%; the stability study presented no significant changes in the average particle size at 20 °C. P C.c presented high antioxidant capacity. For the first time, ellagic acid is reported in this plant. The in vivo obesity study showed a strong anti-obesogenic activity of phytosomes with C. citrinus to reduce 40% body weight as well as morphometric and biochemical parameters.

Autologous fat grafting as a novel technique for primary essential cutis verticis gyrata.

Background: Cutis verticis gyrata (CVG) is a condition of excessive skin growth and excessive laxity of the scalp, leading to deep furrows and folds that resemble the gyri and outer surface of the brain. Approaches for the treatment of CVG range from conservative to surgical, the last one being the predominant way of treating the condition, however, the surgery proposed in the recent literature may not be suitable for patients who desire a less invasive approach. Aim: To report the first case of autologous fat injection as a novel treatment option for primary essential CVG. Methods: A 51 -year-old Colombian man, with no medical records was treated with a scalp injection of autologous fat, with previous failed treatment with pressure therapy apply directly on skin is described. Results: A successful cosmetic improvement and a less invasive approach was reached after two sessions of autologous fat grafting. Conclusion: This method allowed excellent cosmetic outcomes while preserving the option of subsequent surgical repair in refractory cases.

La medicalización de los servicios de salud y la publicidad masiva de medicamentos en la automedicación y la polifarmacia / Medicalization of Health Services and Massive Advertising of Drugs in Self-Medication and Polypharmacy

La medicalización de los servicios de salud y la publicidad masiva de medicamentos en la automedicación y la polifarmacia son temas relevantes de interés mundial. Se encuentran vinculados a la calidad de vida, el deterioro de la salud, la funcionalidad, la autonomía y los actuales modelos económicos y de salud pública. Estos mal manejados perpetúan un círculo perjudicial que trasciende las políticas públicas, las naciones y la sociedad en su conjunto. Ambos modifican el pronóstico de las enfermedades de base (transmisibles o no transmisibles), las comorbilidades, y los procesos farmacocinéticos y farmacodinámicos, cambian su índice terapéutico, y su relación entre las concentraciones para producir efectos terapéuticos o tóxicos. Ejemplos como la insuficiencia renal atribuida al consumo frecuente de antiinflamatorios no esteroideos y la suspensión de metformina en personas adultas mayores con un filtrado glomerular < 30 ml/min o la presencia de comorbilidades(AU)

The medicalization of health services and the massive advertising of drugs in self-medication and polypharmacy are relevant issues of global interest. They are linked to the quality of life, deterioration of health and current autonomy of the economic and public health models. The medicalization of poorly managed services perpetuates a harmful circle that transcends public policies, modifying the prognosis of underlying communicable and non-communicable diseases, comorbidities, and pharmacokinetic and pharmacodynamic processes. As a result of these problems, alterations appear in the therapeutic index and its relationship between concentrations to produce therapeutic or toxic effects. This global problem of polypharmacy in public health mainly affects the elderly(A)

Point­of­care ultrasound for the diagnosis of liver abscess in a patient with HIV in the emergency department: A case report.

A liver abscess is an entity that is rarely observed in the emergency department; therefore, it requires timely diagnosis by the clinicians who support this service. The early diagnosis of a liver abscess is challenging as variable and non-specific symptoms are present; furthermore, symptoms may differ in patients with human immunodeficiency virus (HIV) infection. To date, reports on the presentation of diagnostic ultrasound with point-of-care ultrasonography (PoCUS) are limited. The present case report study describes a patient diagnosed with HIV and the presence of a liver abscess confirmed by PoCUS performed in an emergency department. The patient presented with abdominal pain upon palpation in the right hypochondrium and in the thoracoabdominal area, which became more severe with inspiration. PoCUS revealed a hypodense intrahepatic image observed between segments VII and VI, with internal echoes suggestive of a liver abscess. Moreover, it was decided to perform tomography-guided percutaneous drainage of the liver abscess. Antibiotic treatment with ampicillin/sulbactam and IV metronidazole was also commenced. The patient presented clinical improvement and was discharged on the third day.

Influencia de la carga alélica del JAK2V617F en pacientes cubanos con trombocitemia esencial y mielofibrosis primaria / Influence of JAK2V617F allelic burden in Cuban patients with essential thrombocythemia and primary myelofibrosis

Introducción: La frecuencia de la mutación JAK2V617F se estima entre el 50 y 60 por ciento en pacientes con trombocitemia esencial y mielofibrosis primaria. El 30 por ciento de los pacientes con policitemia vera y mielofibrosis primaria. Entre 2-4 por ciento de los pacientes con trombocitemia esencial presentan pérdida de heterocigosidad. Objetivos: Evaluar la influencia de la carga alélica de la mutación JAK2V617F y su relación con variables clínico-hematológicas en el diagnóstico de estas enfermedades en pacientes cubanos. Métodos: Se realizó un estudio retrospectivo, descriptivo y longitudinal en el Instituto de Hematología e Inmunología entre 2010 y 2020. Se incluyeron todos los pacientes con sospecha de trombocitemia esencial y mielofibrosis primaria con muestras de ADN válidas. Se les cuantificó la carga alélica de la mutación por PCR en tiempo real. Resultados: Se detectó la mutación en 66,7 por ciento de los diagnosticados con trombocitemia esencial y mielofibrosis primaria. El 62,5 por ciento de los pacientes con mielofibrosis primaria fueron homocigotos a la mutación, mientras que en la trombocitemia esencial solo el 20,8 por ciento. La diferencia de medias de cargas alélicas entre ambas enfermedades fue estadísticamente significativa. No se encontraron diferencias significativas en la comparación de las variables clínicas y hematológicas en estas enfermedades ni asociación con la carga alélica con excepción de las plaquetas en la mielofibrosis primaria. Conclusiones: El estudio estuvo limitado por la escasa muestra de pacientes, pero se corresponde con otras investigaciones que sostienen el concepto de que la presentación fenotípica de las neoplasias mieloproliferativasestá influenciada por la carga mutacional del JAK2V617F(AU)

Introduction: The frequency of the JAK2V617F mutation is estimated to be between 50 percent and 60 percent in patients with essential thrombocythemia and primary myelofibrosis. 30 percent of patients with polycythemia vera and primary myelofibrosis and 2-4 percent of patients with essential thrombocythemia show loss of heterozygosity. Objectives: To evaluate the influence of the allelic load of the JAK2V617F mutation in the diagnosis of these diseases in Cuban patients and its relationship with clinical-hematological variables. Methodology: A retrospective, descriptive and longitudinal study was carried out at the Institute of Hematology and Immunology between 2010 and 2020. All patients with suspected essential thrombocythemia and primary myelofibrosis with valid DNA samples were included. The allelic load of the mutation was quantified by real-time PCR. Results: The mutation was detected in 66.7 percent of those diagnosed with essential thrombocythemia and primary myelofibrosis. 62.5 percent of the patients with primary myelofibrosis were homozygous for the mutation, while in essential thrombocythemia only 20.8 percent. The difference in mean allelic loads between both diseases was statistically significant. No significant differences were found in the comparison of clinical and hematological variables in these diseases or association with allelic load, with the exception of platelets in primary myelofibrosis. Conclusions: The study was limited by the small sample of patients, but it corresponds to other investigations that support the concept that the phenotypic presentation of myeloproliferative neoplasms is influenced by the mutational load of JAK2V617F(AU)

Prolonged Mechanical Ventilation Following Coronary Artery Bypass Graft in Santiago De Cali, Colombia.

Purpose: The purpose of this study was to describe factors associated with prolonged ventilatory support in subjects undergoing coronary artery bypass graft. Patients and Methods: This was an analytical retrospective case-control study. Cases were defined as subjects requiring prolonged mechanical ventilation (>48 hours) following isolated coronary artery bypass graft. Subjects older than 18 years who had undergone surgery were included, while subjects with missing clinical record data, subjects in coma or subjects with prior cardiac surgery were excluded. Variables were measured at the three time points surrounding surgery. Results: A total of 204 cases and 408 controls were included. The final logistic model showed an association between prolonged mechanical ventilation and the following presurgical variables: chronic obstructive pulmonary disease (OR 1.85; 95% CI: 1.06-3.23, p = 0.03) and chronic kidney disease (OR 1.90; 95% CI: -3.31; p = 0.02). The associated transurgical variable was the use of intra-aortic balloon pump (OR 3.63; 95% CI: 1.73-7.61, p = 0.00), and associated postsurgical variables were venous oxygen saturation <60% (OR 2.00; 95% CI: 1.18-3.40, p = 0.01), mediastinitis (OR 18.51; 95% CI: 4.06-84.40, p = 0.00), inotrope use (OR 2.82; 95% CI: 1.77-4.48, p = 0.00), pleural effusion requiring drainage (OR 3.57; 95% CI: 2.02-6.32, p = 0.00) and delirium (OR 3.45; 95% CI: 1.91-6.25, p = 0.00). Conclusion: This study identifies factors associated with prolonged mechanical ventilation in subjects subject to coronary artery bypass graft over the presurgical, transurgical and postsurgical periods, identifying a new factor, delirium, for this type of population.

Case Report on Visceral Manipulation in Adolescent Idiopathic Scoliosis.

Introduction: Adolescent idiopathic scoliosis (AIS) is a deformity that affects the spine in three dimensions. Even though AIS patients are usually asymptomatic, AIS negatively impacts them, affecting their quality of life and restricting their social life. There are many treatment options but no gold standard. Visceral manipulation (VM) is widely used in osteopathic practice for the treatment of several conditions, but it is little known among the medical community. To the best of our knowledge, there are no scientific studies reporting VM as a treatment alternative for AIS. Case Presentation: The case was a 14-year-old girl with AIS (baseline Cobb angle of 38.9° in the lumbar spine and 32.3° in the thoracic spine). Although the patient had no physical symptoms, she was recommended for surgery to correct the deformity. The osteopathic assessment indicated that the uterus and pericardium where the main anatomical structures creating tension. Two VM sessions were conducted with a month-and-a-half interval between sessions. The follow-up X-ray revealed a Cobb angle of 32.1° in the lumbar curvature and 34.3° in the thoracic curvature. The results were perceived as an improvement by the patient and her parents. No adverse events or complications were reported. Discussion: After two session of visceral osteopathic treatment, this document reports a 6.8° Cobb angle reduction of the primary curve in a patient with AIS, with the thoracic curvature becoming the major curve.

Caloric restriction: Anti-inflammatory and antioxidant mechanisms against epileptic seizures.

Caloric restriction (CR) possesses different cellular mechanisms. Though there are still gaps in the literature regarding its plausible beneficial effects, the suggestion that this alternative therapy can improve the inflammatory and antioxidant response to control epileptic seizures is explored throughout this study. Epilepsy is the second most prevalent neurodegenerative disease in the world. However, the appropriate mechanisms for it to be fully controlled are still unknown. Neuroinflammation and oxidative stress promote epileptic seizures' appearance and might even aggravate them. There is growing evidence that caloric restriction has extensive anti-inflammatory and antioxidant properties. For instance, nuclear factor erythroid 2-related factor 2 (Nrf2) and all-trans retinoic acid (ATRA) have been proposed to induce antioxidant processes and ulteriorly improve the disease progression. Caloric restriction can be an option for those patients with refractory epilepsy since it allows for anti-inflammatory and antioxidant properties to evolve within the brain areas involved.

Factores de riesgos heredofamiliares, prenatales y perinatales en niños cubanos con autismo primario / Family inherited, prenatal and perinatal risk factors in Cuban children with primary autism

Introducción: El autismo primario es una heterogénea alteración neuroconductual, de causa no precisa, en la que tanto los genes como el ambiente contribuyen a la patogenia del trastorno. Objetivo: Identificar factores de riesgos heredofamiliares, prenatales y perinatales en niños cubanos con autismo primario. Material y Métodos: Se realizó una investigación observacional tipo casos y controles (1:1) en niños con autismo primario, atendidos en el Hospital Pediátrico "Juan Manuel Márquez", La Habana; en el período de octubre de 2014 a septiembre de 2019. La muestra quedó conformada por 126 casos y 126 controles. Se recolectaron los datos sobre la historia de enfermedades neuropsiquiátricas de tres generaciones, antecedentes prenatales y perinatales. Se realizó una regresión logística multivariada para identificar factores de riesgos relacionados con el autismo primario. Resultados: El odds de presentar autismo primario fue aproximadamente siete y cuatro veces superior en hijos de madres y padres con edad avanzada, respectivamente. Los antecedentes de trastornos del lenguaje y epilepsia en familiares de primer grado, confirió un odds de presentar autismo 27 y 24 veces mayor, respectivamente. El odds de presentar autismo fue aproximadamente diez veces mayor en los hijos de gestantes con anemia, ocho veces en hijos de gestantes que tuvieron gestorragias y 18 veces para los nacidos de madres con antecedentes de diabetes mellitus pregestacional. Conclusiones: Los antecedentes de enfermedades heredofamiliares neuropsiquiátricas y de factores ambientales prenatales y perinatales relacionados con eventos hipoxémicos constituyen factores de riesgo para el autismo primario en la muestra de niños cubanos estudiados(AU)

Introduction: Primary autism is a heterogeneous neurobehavioral disorder of uncertain etiology in which both genes and the environment contribute to the pathogenesis of the disorder. Objective: To identify family inherited, prenatal and perinatal risk factors in Cuban children with primary autism. Material and Methods: An observational case-control study (1:1) was carried out in children with primary autism, treated at "Juan Manuel Márquez" Pediatric Hospital, Havana, in the period from October of 2014 to September of 2019. The sample was made up of 126 cases and 126 controls. Data on neuropsychiatric diseases, prenatal and perinatal history of three generations were collected. Multivariate logistic regression was performed to identify risk factors related to primary autism. Results: The odds of presenting primary autism were approximately seven and four times higher in children of mothers and fathers of advanced ages, respectively. A history of language disorders and epilepsy in first-degree relatives conferred 27- and 24-fold higher odds of presenting with autism, respectively. The odds of presenting autism were approximately ten times greater in children born to pregnant women with anemia, eight times in children born to pregnant women who had bleeding during pregnancy, and 18 times in those born to mothers with a history of pregestational diabetes mellitus. Conclusions: The history of inherited neuropsychiatric diseases and prenatal and perinatal environmental factors related to hypoxemic events are risk factors for primary autism in the sample of Cuban children studied(AU)

Correlación entre las pruebas de antígeno prostático específico rápida y sérica / Correlation between rapid and serum prostate-specific antigen tests

Introducción: Al día de hoy no se ha alcanzado un consenso sobre el mejor enfoque para realizar el tamizaje y la detección precoz del Cáncer de Próstata (CaP), en la población. No obstante, hay programas que recomiendan la utilización de la prueba de antígeno prostático específico rápida para la detección de CaP sin un análisis de correlación frente a la prueba sérica. Objetivo: Identificar la correlación entre las pruebas de antígeno prostático específico rápida y sérica, en la población mexicana. Métodos: Se realizó un estudio descriptivo, transversal y retrospectivo, bajo un muestreo no probabilístico por conveniencia. En el período comprendido entre el 25 de mayo al 13 de julio de 2017. Se calcularon los coeficientes de correlación punto biserial (r pb ) y phi (r phi ). Resultados: Se incluyeron 1 635 registros, principalmente de la Ciudad de México y del Estado de México (n= 1 398; 85,5 por ciento, IC95 por ciento 81-89,9). La edad promedio fue de 51 años (DE= 7,68). El valor promedio de antígeno prostático sérico fue de 1,49 ng/mL (DE= 1,91). La proporción de hombres con una prueba rápida positiva (n=60; 3,7 por ciento; IC95 por ciento 2,9-4,6) fue menor (p= 0,0415) en comparación con la proporción de pacientes con una prueba sérica ≥ 4 ng/mL (n=85; 5,2 por ciento; IC95 por ciento 4,1-6,3). El número de casos dobles negativos fue de 1 530 (93,6 por ciento; IC95 por ciento 92,3-94,6) y de dobles positivos fue de 40 (2,4 por ciento; IC95 por ciento1,7-3,2). Los coeficientes de correlación punto biserial y phi mostraron una correlación baja entre la prueba rápida y la prueba sérica de antígeno prostático (rpb= 0,469; p < 0,001; r2= 0,2199 y r ph i= 0,540; p < 0,001; r2= 0,2916). Conclusiones: La prueba de antígeno prostático específico rápida es una herramienta conveniente para los programas de detección de alteración prostática en unidades médicas del primer nivel de atención, donde la prueba sérica no se puede realizar, al ser una prueba con una baja sensibilidad y con un bajo coeficiente de correlación respecto de la prueba de antígeno prostático específico sérica, esto es un punto importante que debe considerarse al diseñar programas de detección oportuna de cáncer de próstata(AU)

Introduction: To date, no consensus has been reached on the best approach for screening and early detection of Prostate Cancer (PCa) in the population. However, there are programs recommending the use of the rapid prostate-specific antigen test for the detection of PCa without a correlation analysis versus the serum test. Objective: To identify the correlation between rapid and serum prostate specific antigen tests in the Mexican population. Methods: A descriptive, cross-sectional and retrospective study was carried out, under a non-probabilistic convenience sampling from May 25 to July 13, 2017. The correlation coefficients of point biserial (rpb) and phi (rphi) were calculated. Results: One thousand six hundred thirty five (1,635) records were included, mainly from Mexico City and the State of Mexico (n= 1,398; 85.5 percent, 95 percent CI 81-89.9). The average age was 51 years (SD= 7.68). The mean value of serum prostate antigen was 1.49 ng/ml (SD= 1.91). The proportion of men with positive rapid test (n=60; 3.7 percent; 95 percent CI 2.9-4.6) was lower (p= 0.0415) compared to the proportion of patients with a serum test ≥ 4 ng/ml (n= 85; 5.2 percent; 95 percent CI 4.1-6.3). The number of double negative cases was 1,530 (93.6 percent; CI95 percent 92.3-94.6) and of double positives was 40 (2.4 percent; CI95 percent 1.7-3.2). The point biserial and phi correlation coefficients showed low correlation between the rapid test and the serum prostate antigen test (rpb= 0.469; p < 0.001; r2= 0.2199 and rphi= 0.540; p < 0.001; r2= 0. 2916). Conclusions: The rapid prostate-specific antigen test is a convenient tool for prostatic alteration detection programs in primary care medical units, where the serum test cannot be performed, however, as it is a test with low sensitivity and with low correlation coefficient with respect to serum prostate-specific antigen testing, this is an important point to consider when designing prostate cancer early detection programs(AU)

The dependence ofNKRversus KR: the initial, thermal, volumetric recombination and screening effect on the efficiency of collected charges on the calibration of si HDR1000 plus well chambers with192Ir HDR sources.

By using the statistical techniques of the ANOVA means test and regression, it was found that theNKRcalibration factor of Standard Imaging (SI) model HDR 1000 plus chambers presents a quadratic dependence with the Reference air kerma rateKR(from 6.9 mGy h-1to 43.9 mGy h-1). In order to understand and correct this dependency one model is presented for total recombination:ks=I300I150=1+kini+kd+kvol·I300+kscreen·I3002,wherekiniis the initial recombination,kvolthe thermal diffusion recombination,kvolthe volumetric recombination andkscreenthe screening for the currents/charges collected at the potential differences of 300 and 150 V. In conclusion, the total recombinationksis composed by onekiniwith a constant contribution of 0.019%, onekdcontribution of 0.017%, onekvol·I300contribution from 0.022% to 0.138%, and thekscreen·I3002effects from 0.002% to 0.09% in the range ofK̇Rrate above. However, when this model forksis applied to try to correct the quadratic dependence of theNKRversusKR,explicitly there is no improvement in the variation range of 0.5% of theNKRversusKR.Nonetheless, it allows to obtainNKRvalues consistent with auc ≤ 0.7%, which is less than 1.25% reported in the literature by ADCLs or SSDLs.

Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation.

OBJECTIVE: To describe the population of patients with cleft lip and/or palate (CL/P) in terms of cleft phenotypes, gender, age, ethnic group, family history, clinical presentation (syndromic vs nonsyndromic), some environmental and behavioral factors, and some clinical features. DESIGN: Descriptive retrospective study. SETTING: Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years. PARTICIPANTS: No screening was conducted. All patients requiring clinical genetics assessment in Operation Smile Foundation were included in the study. RESULTS: Left cleft lip and palate (CLP) and nonsyndromic forms were the most frequent types of malformations in this population. Psychomotor retardation and heart disease were the most frequent comorbidities in these patients. A low proportion of mothers exposed to passive smoking during pregnancy was observed and low birth weight accounted for an important number of cases. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CLP in this population. CONCLUSIONS: In this study, the most frequent type of CL/P was the nonsyndromic complete left CLP. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CL/P in this population.

Validated argentine version of the visual vertigo analogue scale.

BACKGROUND: Visual vertigo (VV), triggered by environmental or dynamic visual stimuli and repetitive visual patterns, can affect daily life activities. The Visual Vertigo Analogue Scale (VVAS) is a valid and reliable self-administered questionnaire to assess VV, which has been culturally adapted to the Argentine population but has not been validated. OBJECTIVE: To validate the Argentine version of VVAS (VVAS-A) by confirming its psychometric properties in patients with vestibular disorders. METHODS: Vestibular patients (n = 82) completed the VVAS-A and the Dizziness Handicap Inventory Argentine version (DHI-A) during their initial visit and one week later. The VVAS-A's internal consistency, test retest reliability, ceiling and floor effects, and construct validity were determined. Test-retest data (n = 71) was used to calculate reliability using the intraclass correlation coefficient (ICC 2.1). RESULTS: A ceiling effect was observed in 12 patients (14.6%). Internal consistency was acceptable (Cronbach's alpha: 0.91). The reliability was r = 0.764 [CI 95%: 0.7 -0.86]). Correlations were observed between the VVAS-A and the total DHI-A score (rho = 0.571), the DHI-A physical subscale (rho: 0.578), and DHI-A functional and emotional subscales of the DHI-A (rho: 0.537 and 0.387, respectively). CONCLUSION: The VVA-A is a valid, reliable tool to evaluate VV in patients with vestibular disorders.

CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia

Abstract Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation. Case report: 12-year-old male, history of blood parents and average growth until 5 years of age. At this age began focal crises, progressive regression of neurodevelopment, severe cognitive deficit, and swallowing disorder that led to gastrostomy. Clinical exome + CNVs + mitochondrial DNA genetic study identified variant NM_017882.3 (CLN6): c. 22C>T, p. (Gln8*) in homozygous, deleterious. Late-onset infantile neuronal ceroid lipofuscinosis was diagnosed. Discussion: Mutations in the CLN6 gene are associated with late-onset infantile lipofuscinosis of autosomal recessive inheritance. This variant has not been previously described in the medical literature nor is it listed in the population databases, which indicates that it is extremely rare. The treatment focuses on the control of seizures, sleep disturbances, extrapyramidal symptoms, behavioral disorders, anxiety, and psychosis. Conclusion: To date, this variant of the CLN6 gene has not been reported in the world. There are currently no etiological or disease-specific therapeutic approaches. The use of exome/whole genome sequencing can be very useful for etiological diagnosis and differential diagnosis. An early diagnosis opens the door to future care and treatment.

Improved synthesis of the antifungal isobutyl o-coumarate catalyzed by the Aspergillus terreus type B feruloyl esterase

BACKGROUND Hydroxycinnamic acids and some of their derivatives are molecules with interesting biological activities; for instance, hydroxylated hydroxycinnamic esters have proved to have antifungal properties, and thus the generation of these molecules is of industrial importance. In this study, the direct esterification capacity of the pure recombinant type B feruloyl esterase from Aspergillus terreus (AtFAE B) was evaluated by its ability to catalyze the synthesis of isobutyl o-coumarate, an interesting antifungal molecule. A ternary solvent system (isooctane/isobutanol/water) was employed to improve the synthesis of isobutyl o-coumarate, assessing different substrate concentrations, enzyme load, water percentages and pH and temperature values. RESULTS AtFAE B showed the highest initial rate at 18% (v/v) isobutanol and 50 mM o-coumaric acid, 0.04 mg/ml of enzyme, 4% (v/v) water without buffer and 40C. AtFAE B half-lives at 30C, 40C and 50C were 16.5 h, 1.75 h and 3.5 min, respectively. Thus, we decided to evaluate the bioconversion yield at 30C, where the enzyme showed the highest operational stability. At this temperature, we obtained a yield of ~80% after only 8 h of reaction, using a 78:18:4 isooctane:isobutanol:water ternary solvent system, with 50 mM of o-coumaric acid.CONCLUSIONS Under these improved conditions, the productivity was 1.06 g isobutyl o-coumarate/L*h with a biocatalyst yield of 209.6 kg isobutyl o-coumarate/kg free AtFAE B, demonstrating the promising potential of AtFAE B to accept the non-canonical o-coumaric acid as the substrate and to achieve the synthesis of isobutyl o-coum