Central Precocious Puberty in a Child With Metachromatic Leukodystrophy

Metachromatic leucodystrophy (MLD) is a rare inherited lysosomal disorder caused by reduced activity of the enzyme arylsulfatase A with accumulation of sulfatides in the nervous system. We report a female child affected by MLD who developed central precocious puberty (CPP). This association has not been described so far. The proposita, after normal growth and psychomotor development, at age of 30 months presented with a rapidly progressive gait disturbance with frequent falls and with loss of acquired language skills. Magnetic resonance imaging showed leukoencephalopathy. Biochemical blood essays showed a 91% reduction in the arylsulfatase A activity and genetic analysis revealed compound heterozygous mutations of the Arylsulfatase A gene, enabling diagnosis of MLD. Subsequently, the patient had further rapid deterioration of motor and cognitive functions and developed drug-resistant epilepsy. At 4 years and 7 months of age bilateral thelarche occurred. Magnetic resonance imaging showed a small pituitary gland, extensive signal changes of the brain white matter, increased choline, decreased N-acetyl-aspartate and presence of lactate on 1HMR spectroscopy. Pelvic ultrasound demonstrated a slightly augmented uterine longitudinal diameter (42 mm). The gonadotropin-releasing hormone stimulation test revealed a pubertal LH peak of 12.9 UI/l. A diagnosis of CPP was made and treatment with gonadotropin-releasing hormone agonists was initiated, with good response. In conclusion, a CPP may occur in MLD as in other metabolic diseases with white matter involvement. We hypothesize that brain accumulation of sulfatides could have interfered with the complex network regulating with the hypothalamic-pituitary axis and thus triggering CPP in our patient

FUNCIÓN INTELECTUAL DE LA CAPACIDAD DE MEMORIA DE TRABAJO EN ESTUDIANTES UNIVERSITARIOS: UN ESTUDIO DE CASO

The aim of the study was to describe the intellectual function of working memory capacity (WMC) in university students from a case study. The study was conducted from June to July 2022 and in a random probabilistic way, six research seed students belonging to the National University "San Luis Gonzaga" (Ica, Peru) were selected. The WMC analysis was through two types of didactic games (DG) with different degrees of complexity: 1st) Divinance of colored cubes and 2nd) marking and recognition of three sea shells between a total number of 100 shells. Each DG was replicated twice being the first for stimulation of mental concentration in the face of the WMC analysis. The DG were replicated twice and in the case of the second the immediate time (s) of recognition was measured where the comparison of the medians was, through the U-Whitney test. It was observed that the time of each replica and the coincidence error in the DG of the marking and recognition of the three shells was: U = 11.0 and p = 0.25. Although the coincidence error decreased in replica 2 and denoted higher CMT. It is concluded that the intellectual function of the CMT is possible from the JD, since they represent an emotional stimulus. However, practices are needed that improve learning and particularly, from observation to understanding about objects to be selected.El objetivo del estudio fue describir la función intelectual de la capacidad de memoria de trabajo (CMT) en estudiantes universitarios desde un caso de estudio. Se realizó, el estudio de junio a julio de 2022 y de forma probabilística aleatoria se seleccionaron, seis estudiantes de semilleros de investigación que pertenecen a la Universidad Nacional “San Luis Gonzaga” (Ica, Perú). El análisis de la CMT fue mediante dos tipos de juegos didácticos (JD) con diferentes grados de complejidad: 1ro) adivinanza de cubos de colores y 2do) marcaje y reconocimiento de tres conchas de mar entre un número total de 100 conchas. Cada JD se replicó dos veces siendo preparatorio el primero para la estimulación de la concentración mental ante el análisis de la CMT. Los JD se replicaron dos veces y en caso del segundo se midió el tiempo (s) inmediato de reconocimiento donde la comparación de las medianas fue, a través de la prueba U de Mann-Whitney. Se observó, que el tiempo de cada réplica y el error de coincidencia en el JD del marcaje y reconocimiento de las tres conchas fue: U = 11,0 y p = 0,25. Aunque, disminuyó el error de coincidencia en la réplica 2 y denotó mayor CMT. Se concluye, que la función intelectual de la CMT se posibilita desde los JD, pues representan un estímulo emocional. Sin embargo, se necesitan prácticas que mejoren el aprendizaje y particularmente, desde la observación para la comprensión sobre objetos a seleccionarse

Central Precocious Puberty in a Child With Metachromatic Leukodystrophy

Metachromatic leucodystrophy (MLD) is a rare inherited lysosomal disorder caused by reduced activity of the enzyme arylsulfatase A with accumulation of sulfatides in the nervous system. We report a female child affected by MLD who developed central precocious puberty (CPP). This association has not been described so far. The proposita, after normal growth and psychomotor development, at age of 30 months presented with a rapidly progressive gait disturbance with frequent falls and with loss of acquired language skills. Magnetic resonance imaging showed leukoencephalopathy. Biochemical blood essays showed a 91% reduction in the arylsulfatase A activity and genetic analysis revealed compound heterozygous mutations of the Arylsulfatase A gene, enabling diagnosis of MLD. Subsequently, the patient had further rapid deterioration of motor and cognitive functions and developed drug-resistant epilepsy. At 4 years and 7 months of age bilateral thelarche occurred. Magnetic resonance imaging showed a small pituitary gland, extensive signal changes of the brain white matter, increased choline, decreased N-acetyl-aspartate and presence of lactate on 1HMR spectroscopy. Pelvic ultrasound demonstrated a slightly augmented uterine longitudinal diameter (42 mm). The gonadotropin-releasing hormone stimulation test revealed a pubertal LH peak of 12.9 UI/l. A diagnosis of CPP was made and treatment with gonadotropin-releasing hormone agonists was initiated, with good response. In conclusion, a CPP may occur in MLD as in other metabolic diseases with white matter involvement. We hypothesize that brain accumulation of sulfatides could have interfered with the complex network regulating with the hypothalamic-pituitary axis and thus triggering CPP in our patient.</p

Robotic surgery of gallbladder cancer

Aim: The aim of this study was to describe our technique for the surgical treatment of clinically suspected or incidentally diagnosed gallbladder cancer (GBC) and to report the outcomes of our experience.Methods: This is a retrospective observational study including consecutive patients operated by a robotic approach for the surgical treatment of clinically suspected or incidentally diagnosed GBC (with the intent of radical re-resection after index cholecystectomy) performed between January 2017 and December 2019. Clinical outcomes and technical details related to the robotic approach were analyzed.Results: During the study period, 8 patients underwent robotic radical cholecystectomy with lymphadenectomy and atypical resection of segments IVb-V. No conversion or major complications occurred intraoperatively. All patients underwent a radical resection. There were one Clavien-Dindo grade II and one grade IIIb complication. Median hospital stay was 6 days (range 5-11). At a median follow-up of 17.5 months (range 29.3-7.3), all patients are alive and free from disease except one who had peritoneal recurrence and underwent chemotherapy. No trocar site recurrence was observed.Conclusion: The present study describes a standardized step-by-step robotic technique for the surgical treatment of GBC and demonstrates the feasibility and safety of the robotic approach. More data and multicentre series are needed to confirm our results and to assess the oncologic outcomes of the robotic approach

Incessant Automatic Atrial Tachycardia in a Neonate Successfully Treated with Nadolol and Closely Spaced Doses of Flecainide: A Case Report

Supraventricular tachyarrhythmia (SVT) is the most common type of arrhythmia in childhood. Management can be challenging with an associated risk of mortality. A female neonate was diagnosed with episodes of SVT, controlled antenatally with digoxin. Flecainide was commenced prophylactically at birth. Despite treatment, the infant developed a narrow complex tachycardia at 5 days of age. The electrocardiogram features were suggestive of either re-entry tachycardia or of automatic atrial tachycardia (AAT). Following several unsuccessful treatments, a wide complex tachycardia developed. A transesophageal electrophysiological study led to a diagnosis of AAT. Stable sinus rhythm was finally achieved through increasing daily administrations of flecainide up to six times a day, in association with nadolol. The shortening of intervals to this extent has never been reported before and supports the evidence of a personal, age-specific variability in pharmacokinetics of flecainide. Larger studies are needed to better define the appropriate dose and timing of administration

Delayed Start of Routine Vaccination in Preterm and Small-for-Gestational-Age Infants: An Area-Based Cohort Study from the Tuscany Region, Italy

Preterm and small-for-gestational-age (SGA) infants are more susceptible to vaccine-preventable diseases. To evaluate routine vaccination timeliness in these high-risk groups, a full birth cohort of infants (n = 41,502) born in 2017 and 2018 in Tuscany was retrospectively followed up until 24 months of age. Infants were classified by gestational age (GA) and SGA status. The vaccinations included: hexavalent (HEXA), measles-mumps-rubella, varicella, pneumococcal conjugate (PCV), and meningococcal C conjugate. Time-to-event (Kaplan–Meier) analyses were conducted to evaluate the timing of vaccination according to GA; logistic models were performed to evaluate the associations between GA and SGA with vaccination timeliness. Time-to-event analyses show that the rate of delayed vaccine receipt increased with decreasing GA for all the vaccinations, with a less marked gradient in later vaccine doses. Compared to full-term infants, very preterm infants significantly showed an increased odds ratio (OR) for delayed vaccination in all the vaccinations, while moderate/late preterm infants only showed an increased OR for HEXA-1, HEXA-3, PCV-1, and PCV-3. SGA infants had a significantly higher risk of delayed vaccination only for HEXA-1 and PCV-1 compared to non-SGA infants. In conclusion, vaccinations among preterm and SGA infants showed considerable delay. Tailored public health programs to improve vaccination timeliness are required in these high-risk groups

MODALIDAD DEL SEMILLERO DE INVESTIGACIÓN COMO TRABAJO EXTRACURRICULAR EN LA FORMACIÓN UNIVERSITARIA

The purpose of the study was to describe the modality of the research hotbed as extracurricular work in university education. From June to September 2021, the research hotbed project "Formando y Formando" was carried out for teachers and students of the Universidad Nacional "San Luis Gonzaga", Ica, Peru. The academic areas that participated were: Pharmacy and Biochemistry, Environmental and Sanitary Engineering, as well as Dentistry where the students corresponded to the academic cycles of 1st, 6th and 8th. Three levels of training instructions were considered: 1st) identification of what to do, 2nd) execution of what to do and 3rd), communication of what to do. The research seedbed (SI) was carried out from the extracurricular work in university education (TEFU) through a development model that consisted of five instructions: title, introduction, objectives, measurement and proposed improvement according to the undesired situation. It was observed that upon completion of the TEFU development model in the SI, the students were able to complete the proposed activities, according to the planning where there was a demonstration of creative learning and team exchange. It is concluded that the hotbed of research as extracurricular work in university education allowed university students to acquire skills, academic commitment from their training and consolidate teamwork. Keywords: academic performance – extracurricular activity – hotbed of research – trainingEl propósito del estudio fue describir la modalidad del semillero de investigación como trabajo extracurricular en la formación universitaria. Desde junio hasta septiembre de 2021 se realizó, el proyecto del semillero de investigación ¨Formándose y Formando¨ para los docentes y estudiantes de la Universidad Nacional ¨San Luis Gonzaga¨, Ica, Perú. Las áreas académicas que participaron fueron: Farmacia y Bioquímica, Ingeniería Ambiental y Sanitaria, así como Odontología donde los estudiantes correspondieron a los ciclos académicos de 1ro, 6to y 8vo. se consideró tres niveles de instrucciones formativas: 1ro) identificación del qué hacer, 2do) ejecución del qué hacer y 3ro), comunicación del qué hacer. El semillero de investigación (SI) se realizó desde el trabajo extracurricular en la formación universitaria (TEFU) mediante un modelo de desarrollo que consistió en cinco instrucciones: título, introducción, objetivos, medición y mejora propuesta según la situación no deseada. Se observó, que al completarse el modelo de desarrollo del TEFU en el SI, los estudiantes fueron capaces de completar las actividades propuestas, según la planificación donde existió la demostración del aprendizaje creativo y el intercambio en equipo. Se concluye, que el semillero de investigación como trabajo extracurricular en la formación universitaria permitió en los estudiantes universitarios la adquisición de habilidades, el compromiso académico desde su formación y la consolidar el trabajo en equipo. Palabras clave: actividad extracurricular – desempeño académico – formación – semillero de investigació

Programma FARO (Finanziamento per l’Avvio di Ricerche Originali) IV tornata, 2012, progetto di ricerca "Cilento Labscape. Un modello integrato per l’attivazione di un Living Lab nel Parco Nazionale del Cilento e Vallo di Diano", Dipartimento di Architettura, Università di Napoli Federico II. 21 ottobre 2012 - 31 dicembre 2014, Responsabile scientifico.

Cilento Labscape: un modello integrato e interdisciplinare per l’attivazione di un Living Lab nel Parco Nazionale del Cilento e Vallo di Diano è una ricerca condotta dall’Università degli Studi di Napoli Federico II