Identification of Smith-Magenis syndrome cases through an experimental evaluation of machine learning methods.

This research work introduces a novel, nonintrusive method for the automatic identification of Smith-Magenis syndrome, traditionally studied through genetic markers. The method utilizes cepstral peak prominence and various machine learning techniques, relying on a single metric computed by the research group. The performance of these techniques is evaluated across two case studies, each employing a unique data preprocessing approach. A proprietary data "windowing" technique is also developed to derive a more representative dataset. To address class imbalance in the dataset, the synthetic minority oversampling technique (SMOTE) is applied for data augmentation. The application of these preprocessing techniques has yielded promising results from a limited initial dataset. The study concludes that the k-nearest neighbors and linear discriminant analysis perform best, and that cepstral peak prominence is a promising measure for identifying Smith-Magenis syndrome.

Acoustic Analysis of Phonation in Children With Smith-Magenis Syndrome.

Complex simultaneous neuropsychophysiological mechanisms are responsible for the processing of the information to be transmitted and for the neuromotor planning of the articulatory organs involved in speech. The nature of this set of mechanisms is closely linked to the clinical state of the subject. Thus, for example, in populations with neurodevelopmental deficits, these underlying neuropsychophysiological procedures are deficient and determine their phonation. Most of these cases with neurodevelopmental deficits are due to a genetic abnormality, as is the case in the population with Smith-Magenis syndrome (SMS). SMS is associated with neurodevelopmental deficits, intellectual disability, and a cohort of characteristic phenotypic features, including voice quality, which does not seem to be in line with the gender, age, and complexion of the diagnosed subject. The phonatory profile and speech features in this syndrome are dysphonia, high f0, excess vocal muscle stiffness, fluency alterations, numerous syllabic simplifications, phoneme omissions, and unintelligibility of speech. This exploratory study investigates whether the neuromotor deficits in children with SMS adversely affect phonation as compared to typically developing children without neuromotor deficits, which has not been previously determined. The authors compare the phonatory performance of a group of children with SMS (N = 12) with a healthy control group of children (N = 12) matched in age, gender, and grouped into two age ranges. The first group ranges from 5 to 7 years old, and the second group goes from 8 to 12 years old. Group differences were determined for two forms of acoustic analysis performed on repeated recordings of the sustained vowel /a/ F1 and F2 extraction and cepstral peak prominence (CPP). It is expected that the results will enlighten the question of the underlying neuromotor aspects of phonation in SMS population. These findings could provide evidence of the susceptibility of phonation of speech to neuromotor disturbances, regardless of their origin.

Neisseria gonorrhoeae antimicrobial resistance in Spain: a prospective multicentre study.

OBJECTIVES: Gonococcal infection is one of the most reported sexually transmitted infections and antimicrobial resistance in Neisseria gonorrhoeae (NG) is challenging for the treatment of this infection. This observational study aimed to describe antimicrobial resistance of NG and epidemiological data from patients with gonococcal infection in eight regions of Spain, for updating the local therapeutic guidelines. METHODS: MICs of penicillin, cefixime, ceftriaxone, azithromycin, ciprofloxacin, fosfomycin and gentamicin were determined by Etest for all NG isolates recovered from 1 April 2018 to 30 September 2019 from 10 hospitals in Spain. Resistance determinants were identified using logistic regression analysis. Differences with a P value <0.05 were considered statistically significant. RESULTS: Antimicrobial susceptibility testing was performed for 2571 gonococci isolated from 2429 patients. 44.5% (945/2124) of patients were MSM. The resistance rate to extended-spectrum cephalosporins was low, with 0.2% (6/2561) of isolates resistant to ceftriaxone and 1.7% (44/2517) of isolates resistant to cefixime. The overall azithromycin resistance rate was 12.1% (310/2560), but differed greatly depending on the area. 56.2% (1366/2429) of the strains studied were ciprofloxacin resistant. MIC50 and MIC90 values of gentamicin and fosfomycin were 4 and 8 mg/L and 24 and 48 mg/L, respectively. CONCLUSIONS: Our study shows that NG susceptibility to extended-spectrum cephalosporins remains high in Spain. The azithromycin resistance rate questions the suitability of dual therapy. This study provides data of interest for updating the national treatment guidelines and highlights the need to develop and implement a national sentinel gonococcal antimicrobial susceptibility programme.

Papiloma del plexo coroideo del tercer ventrículo. Descripción de un caso / Choroid plexus papilloma of the third ventricle. A case report

El papiloma del plexo coroideo es un tumor poco frecuente del sistema nervioso central, que representa menos del 1% de todas las neoplasias intracraneales. Las ubicaciones habituales son el ventrículo lateral en bebés y niños y el cuarto ventrículo en adultos. El tercer ventrículo es una localización inhabitual, con pocos casos recogidos en la bibliografía. Describimos el caso de un niño de 3 meses que ingresó en nuestro centro con signos de aumento de la presión intracraneal. Los estudios de neuroimagen mostraron una lesión en el tercer ventrículo, con hidrocefalia asociada. Al paciente se le extirpó completamente el tumor mediante abordaje transfrontal y cirugía de derivación ventriculoperitoneal. El curso postoperatorio del niño transcurrió sin incidentes y la imagen de resonancia magnética de seguimiento no reveló tumor residual. La histopatología de la lesión resecada confirmó el diagnóstico de papiloma del plexo coroideo. Discutimos las características clínicas, radiológicas e histológicas de este tipo infrecuente de tumores

Choroid plexus papilloma is an uncommon tumour of the central nervous system, accounting for less than 1% of all intracranial neoplasm. The usual locations are the lateral ventricle in infants and children and the fourth ventricle in adults. The third ventricle is a rare location, with few cases reported in the literature. We describe the case of a 3-month-old boy who was admitted to our centre with signs of raised intracranial pressure. Neuroimaging studies showed a third ventricular mass with associated hydrocephalus. The patient underwent complete tumour removal through a transfrontal approach and ventriculo-peritoneal shunt surgery. Postoperative course of the child was uneventful and follow-up magnetic resonance imaging revealed no residual tumour. Histopathology of the resected lesion confirmed the diagnosis of choroid plexus papilloma. We discuss the clinical, radiological and histological features of this infrequent type of tumours

Ganglioneuroma lipomatoso paravertebral con extensión intraespinal. Descripción de un caso y revisión de la literatura / Paravertebral lipomatous ganglioneuroma with intraspinal extension. Case report and literature review

Los ganglioneuromas lipomatosos son una variante poco frecuente de los ganglioneuromas, que se caracterizan por presentar un componente adipocítico maduro entremezclado con un componente convencional de ganglioneuroma. Presentamos el caso de un paciente de 34 años con una lesión paravertebral L1-L4 derecha con extensión intraespinal y con déficit neurológico secundario, que fue intervenido en nuestro centro. La anatomía patológica confirmó la presencia de una neoplasia encapsulada amarillenta, que al microscopio presentaba áreas de ganglioneuroma mezcladas con áreas de grasa madura. En el seguimiento, el paciente se encontraba asintomático, con la paresia en la extremidad inferior derecha recuperada. En el último control de imagen no presentaba datos de recidiva de la lesión. Existen menos de 10 casos de ganglioneuroma lipomatoso descritos en la bibliografía. Este es el primero a nivel paravertebral con extensión intraespinal y con déficit neurológico, de ahí el interés de este trabajo

Lipomatous ganglioneuromas are a rare variant of ganglioneuromas characterized by a mature adipocytic component admixed with a conventional ganglioneuroma component. We present the case of a 34 year old patient with a paravertebral right lesion L1-L4 with intraspinal extension and secondary neurological deficit, who underwent surgery in our hospital. The pathological anatomy showed a yellowish encapsulated neoplasm, which under microscopic evaluation showed areas of ganglioneuroma admixed with areas of mature fat. In the follow up, the patient was asymptomatic, had recovered paresis in the right lower extremity and in the last image control did not present data of lesion recurrence. Fewer than 10 cases of lipomatous ganglioneuromas have been reported in the literature, being this the first paravertebral case wih intraspinal extension and with neurological deficit, hence the interest of this work

Paravertebral lipomatous ganglioneuroma with intraspinal extension. Case report and literature review. / Ganglioneuroma lipomatoso paravertebral con extensión intraespinal. Descripción de un caso y revisión de la literatura.

Lipomatous ganglioneuromas are a rare variant of ganglioneuromas characterized by a mature adipocytic component admixed with a conventional ganglioneuroma component. We present the case of a 34 year old patient with a paravertebral right lesion L1-L4 with intraspinal extension and secondary neurological deficit, who underwent surgery in our hospital. The pathological anatomy showed a yellowish encapsulated neoplasm, which under microscopic evaluation showed areas of ganglioneuroma admixed with areas of mature fat. In the follow up, the patient was asymptomatic, had recovered paresis in the right lower extremity and in the last image control did not present data of lesion recurrence. Fewer than 10 cases of lipomatous ganglioneuromas have been reported in the literature, being this the first paravertebral case wih intraspinal extension and with neurological deficit, hence the interest of this work.

Choroid plexus papilloma of the third ventricle. A case report. / Papiloma del plexo coroideo del tercer ventrículo. Descripción de un caso.

Choroid plexus papilloma is an uncommon tumour of the central nervous system, accounting for less than 1% of all intracranial neoplasm. The usual locations are the lateral ventricle in infants and children and the fourth ventricle in adults. The third ventricle is a rare location, with few cases reported in the literature. We describe the case of a 3-month-old boy who was admitted to our centre with signs of raised intracranial pressure. Neuroimaging studies showed a third ventricular mass with associated hydrocephalus. The patient underwent complete tumour removal through a transfrontal approach and ventriculo-peritoneal shunt surgery. Postoperative course of the child was uneventful and follow-up magnetic resonance imaging revealed no residual tumour. Histopathology of the resected lesion confirmed the diagnosis of choroid plexus papilloma. We discuss the clinical, radiological and histological features of this infrequent type of tumours.

New Software for Gluten-Free Diet Evaluation and Nutritional Education.

Following a gluten-free diet (GFD) is the only treatment for celiac disease. This diet must ensure the absence of gluten but also needs to be nutritionally balanced. Dietitians working in this field cannot properly evaluate energy and nutrient intake of celiac people because dietary programs available on the market do not contain the nutritional composition of gluten-free products (GFP). Here we present a new GFD evaluation software that contains more than 700 gluten-free rendered foodstuffs and their macronutrient composition. Apart from diet evaluation and design, the software represents a tool for nutritional education as well, since it shows diet appropriacy and indicates how to promote balanced self-care. Moreover, anthropometric and biochemical data or symptoms presence and diet adherence can be recorded and evaluated. This open free software, can be downloaded in its app format for mobiles and tablets. Software evaluation indicated its correct functionality and the importance of assessing a GFD with GFP instead of with their gluten-containing analogues. Thus, this software represents an essential e-Health tool, not only for proper GFD evaluation, but also for improving life quality of celiac and gluten sensitive people.

Tumor glioneuronal papilar. Descripción de un caso / Papillary glioneuronal tumor. A case report

El tumor glioneuronal papilar (TGNP) es una neoplasia del sistema nervioso central de reciente descripción. En el año 2007, la Organización Mundial de la Salud clasificó este tumor como una neoplasia neuronal-glial de grado i. Los pacientes suelen ser niños o adultos jóvenes que presentan clínica de cefalea o crisis comiciales. Describimos el caso de un paciente varón de 13 años de edad que fue remitido a nuestro centro tras presentar un traumatismo craneal leve a consecuencia de un accidente de circulación. La tomografía computarizada realizada en urgencias mostraba una lesión temporo-occipital derecha hipointensa. La imagen de resonancia magnética confirmó la presencia de una lesión indicativa de un tumor cerebral primario. Se realizó una exéresis quirúrgica completa de la lesión, con adecuada recuperación postoperatoria. El estudio de anatomía patológica de la lesión demostró una estructura seudopapilar con astrocitos y neuronas, compatible con TGNP. Discutimos los hallazgos clínicos, radiológicos e histológicos de este tipo de tumores poco frecuentes

Papillary glioneuronal tumor (PGNT) is a recently described central nervous system neoplasm. In 2007, the World Health Organization classified this tumor as a grade I neuronal-glial neoplasm. Patients are usually juvenile and young adults who commonly present with headache or seizures. We report a case of a 13-year-old boy that was related to our hospital after suffering a mild head injury result of an automobile accident. Emergent CT scan showed a right hypointense temporo-occipital lesion. MRI confirmed the presence of a lesion suggestive of a primary brain tumor. The patient underwent total resection of the tumor, followed by an uneventful recovery. Pathological analysis of the lesion revealed characteristic pseudopapillary structure with astrocytes and neurons, compatible with PGNT. We discuss the clinical, Radiological and histological features of this infrequent type of tumors

Papillary glioneuronal tumor. A case report. / Tumor glioneuronal papilar. Descripción de un caso.

Papillary glioneuronal tumor (PGNT) is a recently described central nervous system neoplasm. In 2007, the World Health Organization classified this tumor as a grade I neuronal-glial neoplasm. Patients are usually juvenile and young adults who commonly present with headache or seizures. We report a case of a 13-year-old boy that was related to our hospital after suffering a mild head injury result of an automobile accident. Emergent CT scan showed a right hypointense temporo-occipital lesion. MRI confirmed the presence of a lesion suggestive of a primary brain tumor. The patient underwent total resection of the tumor, followed by an uneventful recovery. Pathological analysis of the lesion revealed characteristic pseudopapillary structure with astrocytes and neurons, compatible with PGNT. We discuss the clinical, Radiological and histological features of this infrequent type of tumors.

A survey on practices for active surveillance of carriage of multidrug-resistant bacteria in hospitals in the Autonomous Community of Valencia, Spain.

A questionnaire-based cross-sectional study was conducted to gather information on current microbiological practices for active surveillance of carriage of multidrug-resistant (MDR) bacteria in hospitals from 14 health departments of the Autonomous Community of Valencia (ACV), Spain, which together provided medical attention to 3,271,077 inhabitants in 2017, approximately 70% of the population of the ACV. The survey consisted of 35 questions on MDR bacteria screening policies, surveillance approach chosen (universal vs. targeted), and microbiological methods and processes in use for routine detection and reporting of colonization by MDR bacteria, including the anatomical sites scheduled to be sampled for each MDR bacterial species, and the methodology employed (culture-based, molecular-based, or both). Our study revealed striking differences across centers, likely attributable to the lack of consensus on optimal protocols for sampling, body sites for screening, and microbiological testing, thus underscoring the need for consensus guidelines on these issues.

Neurocitoma atípico de cerebelo que simula un hemangioblastoma. Presentación de un caso / Atypical cerebellar neurocytoma resembling a hemangioblastoma. A case report

Hasta agosto 2013 se han descrito alrededor de 105 casos de neurocitomas extraventriculares intracraneales, de los cuales el 6% se localizan en el cerebelo y el 22% son neurocitomas extraventriculares atípicos. El neurocitoma extraventricular atípico es una variante infrecuente, con solo 24 casos descritos y con un pronóstico más sombrío que el neurocitoma central típico. Se presenta un neurocitoma extraventricular atípico de cerebelo, nunca publicado hasta la fecha; de ahí el interés de este trabajo. Destaca la singularidad de ser un tumor quístico con nódulo mural, una presentación poco frecuente. Los neurocitomas extraventriculares son tumores con baja incidencia que deben considerarse en el diagnóstico diferencial inicial de lesiones cerebelosas quísticas con nódulo mural. Dado que el pronóstico depende del grado de atipia y de la resección quirúrgica, en casos de neurocitomas extraventriculares atípicos el seguimiento debe ser más estrecho, por el mayor riesgo de recidivas que presentan

Through August 2013, 105 cases of intracranial extraventricular neurocytoma (EVN) had been described; 6% were located in cerebellum and 22% were atypical EVN.A rare morphologic form of neurocytoma, atypical EVN has had only 24 cases reported to date. Its prognosis is poorer than the typical central neurocytoma. This case report describes an atypical cerebellar EVN, a form that has not been reported yet, hence the interest of this article. We emphasise its cystic nature and mural nodule, in an infrequent presentation.EVN are low-incidence tumours that we need to take into consideration when making the differential diagnosis of cystic cerebellar lesions with mural nodule. Given that the prognosis of atypical EVNs depends on the atypical nature and on the grade of resection, medical follow up has to be more constant, due to the greater degree of recurrence

[Atypical cerebellar neurocytoma resembling a hemangioblastoma. A case report]. / Neurocitoma atípico de cerebelo que simula un hemangioblastoma. Presentación de un caso.

Through August 2013, 105 cases of intracranial extraventricular neurocytoma (EVN) had been described; 6% were located in cerebellum and 22% were atypical EVN. A rare morphologic form of neurocytoma, atypical EVN has had only 24 cases reported to date. Its prognosis is poorer than the typical central neurocytoma. This case report describes an atypical cerebellar EVN, a form that has not been reported yet, hence the interest of this article. We emphasise its cystic nature and mural nodule, in an infrequent presentation. EVN are low-incidence tumours that we need to take into consideration when making the differential diagnosis of cystic cerebellar lesions with mural nodule. Given that the prognosis of atypical EVNs depends on the atypical nature and on the grade of resection, medical follow up has to be more constant, due to the greater degree of recurrence.

La gestión por procesos en la Farmacia Hospitalaria para la mejora de la seguridad del paciente / Process management in the Hospital Pharmacy for the improvement of the patient safety

Objetivos. Definir un modelo de gestión por procesos de una Farmacia Hospitalaria para medir, analizar y realizar la mejora continúa en seguridad y calidad asistencial. Material y métodos. En el marco de implantación de la gestión por procesos, el Hospital de Igualada se dividió en varios procesos, uno de los cuales fue el proceso de Farmacia Hospitalaria. Primero se nombró un equipo de gestión para cada proceso. Después se definió un pequeño grupo de trabajo para cada subproceso con su respectivo responsable. Con la ayuda de estos grupos se realizaron el análisis de riesgos aplicando el Análisis Modal de Fallos y Efectos (AMFE) y la implantación de las acciones de mejora resultantes. Se definieron indicadores para cada subproceso y se establecieron diferentes mecanismos de gestión por procesos. Resultados. Primero, el análisis de riesgos con AMFE generó más de una treintena de acciones preventivas para mejorar la seguridad del paciente. Después, tanto el análisis semanal de incidencias como el análisis mensual de los indicadores nos permitió la monitorización y gestión basada en datos objetivos de los resultados claves. Además, el tener a una persona responsable de los resultados de cada subproceso nos permitió la implicación y compromiso del personal creándose la cultura de excelencia. Conclusiones. La introducción de diferentes mecanismos de gestión por procesos, con la participación del personal responsable para cada subproceso, introduce una herramienta de gestión participativa para la mejora continua de la seguridad y calidad asistencial(AU)

Objectives. To define a process management model for a hospital pharmacy in order to measure, analyse and make continuous improvements in patient safety and healthcare quality. Material and methods. In order to implement process management, Igualada Hospital was divided into different processes, one of which was the Hospital Pharmacy. A multidisciplinary management team was given responsibility for each process. For each sub-process one person was identified to be responsible, and a working group was formed under his/her leadership. With the help of each working group, a risk analysis using failure modes and effects analysis (FMEA) was performed, and the corresponding improvement actions were implemented. Sub-process indicators were also identified, and different process management mechanisms were introduced. Results. The first risk analysis with FMEA produced more than thirty preventive actions to improve patient safety. Later, the weekly analysis of errors, as well as the monthly analysis of key process indicators, permitted us to monitor process results and, as each sub-process manager participated in these meetings, also to assume accountability and responsibility, thus consolidating the culture of excellence. Conclusions. The introduction of different process management mechanisms, with the participation of people responsible for each sub-process, introduces a participative management tool for the continuous improvement of patient safety and healthcare quality(AU)

[Process management in the hospital pharmacy for the improvement of the patient safety]. / La gestión por procesos en la farmacia hospitalaria para la mejora de la seguridad del paciente.

OBJECTIVES: To define a process management model for a hospital pharmacy in order to measure, analyse and make continuous improvements in patient safety and healthcare quality. MATERIAL AND METHODS: In order to implement process management, Igualada Hospital was divided into different processes, one of which was the Hospital Pharmacy. A multidisciplinary management team was given responsibility for each process. For each sub-process one person was identified to be responsible, and a working group was formed under his/her leadership. With the help of each working group, a risk analysis using failure modes and effects analysis (FMEA) was performed, and the corresponding improvement actions were implemented. Sub-process indicators were also identified, and different process management mechanisms were introduced. RESULTS: The first risk analysis with FMEA produced more than thirty preventive actions to improve patient safety. Later, the weekly analysis of errors, as well as the monthly analysis of key process indicators, permitted us to monitor process results and, as each sub-process manager participated in these meetings, also to assume accountability and responsibility, thus consolidating the culture of excellence. CONCLUSIONS: The introduction of different process management mechanisms, with the participation of people responsible for each sub-process, introduces a participative management tool for the continuous improvement of patient safety and healthcare quality.

Meningioma de células claras lumbosacro multifocal. Presentación de un caso y revisión de la literatura / No disponible

El meningioma de células claras es una variedad infrecuente de meningioma. Se describe el caso de un meningioma espinal multifocal de células claras presente en una paciente de 20 años de edad. Clínicamente refiere lumbalgia de aproximadamente 2 años de evolución. En el estudio de resonancia magnética nuclear (RMN) se evidencia gran tumoración lumbosacra, que ocupa el canal raquídeo de L4 a S2, asociada a 2 lesiones satélites en la región lumbar. Una tumoración intra-extradural fue resecada quirúrgicamente, confirmándose el diagnóstico anatomopatológico de meningioma de células claras. Se resecan así mismo ambas lesiones satélites con idéntico diagnóstico histológico. Por tanto, en pacientes jóvenes con lesión espinal sugestiva de meningioma debe considerarse la posibilidad de que se trate de un meningioma de células claras, así como su probable origen multifocal y la probabilidad de recidivas (AU)