Diabetic Ketoacidosis in Type 1 Diabetes Onset in Latin American Children.

OBJECTIVE: To describe the patterns of diabetic ketoacidosis (DKA) occurrence in children newly diagnosed with type 1 diabetes (T1DM) across several Latin American pediatric diabetes centers from 2018 to 2022. METHODS: A retrospective chart review included children under 18 with new-onset T1DM from 30 Latin American pediatric diabetes centers (Argentina, Chile, and Peru) between 30 December 2018 and 30 December 2022. Multiple logistic regression models examined the relationships between age, gender, medical insurance, BMI, and DKA at new-onset T1DM. As far as we know, there are no large studies in Latin American countries exploring the patterns of DKA in new-onset T1DM. RESULTS: A total of 2,026 (983 females) children, median age 9.12 (5.8 -11.7) years with new-onset-T1DM were included. Approximately 50% had no medical insurance. Mean glucose values were 467 mg/dL, pH 7.21, bicarbonate 13 mEq/L, HbA1c 11.3%, and BMI 18. The frequency of DKA was 1,229 (60.7%), out of which only 447 (36%) were severe. There was a significant decrease in the frequency of DKA as age increased: 373 (70.2%) in children under 6, 639 (61.6%) in those between 6 and 12, 217 and (47.5%) in those over 12. Children with medical insurance (58.8%) had a significantly lower frequency of DKA than those without (62.7%). The multiple logistic regression models showed that DKA was significantly and inversely associated with age [OR, 0.72 (95% CI 0.60-0.86)], BMI [OR, 0.95 (95% CI 0.92-0.99)], and medical insurance [OR, 0.75 (95% CI 0.60-0.94)] adjusted for sex. CONCLUSION: Latin American children with new-onset T1DM exhibited a substantial occurrence of DKA. Younger ages and the lack of medical insurance were significantly associated with DKA in new-onset T1DM.

Scapulohumeral Spaces: Concordance and Proposal for Terminologia Anatomica

SUMMARY: The updating of anatomical terms is essential to facilitate teaching and learning as well as international communication through publications and presentations at scientific events. In the posterior wall of the axilla, the teres major, teres minor and triceps brachii muscles form three spaces through which neurovascular structures of clinical significance run. The current study seeks to define and propose terms for these spaces which have been omitted by Terminologia Anatomica. The definition of the Latin term 'Spatium' was investigated using A Latin Dicionary, while the term 'Espacio' was analyzed using Diccionario panhispánico de términos médicos (Real Academia Nacional de Medicina de España, 2023), as well as the lexemes of the words 'scapula' and 'humerus', for which the Diccionario Médico-Biológico, Histórico y Etimológico de la Universidad de Salamanca was consulted. The presence of the term 'Spatium' in the Terminologia Anatomica was also investigated. Finally, 10 anatomy textbooks in Spanish were reviewed to identify the terms used for these spaces. In reviewing the latest edition of Terminologia Anatomica, it was found that the term 'Spatium' appears 25 times in different chapters and it was evident that no terms for scapulohumeral spaces appear in the chapters on upper limb structures. Moreover, in 100 % of the anatomy textbooks reviewed, at least one term is used to describe the scapulohumeral spaces. We believe that the proposed terms: 'Spatium humerotricipitale', 'Spatium scapulotricipitale' and 'Spatium teretricipitale' more accurately describe both the location and their association with the bone/muscle structures that form them. We therefore suggest that these terms be revised for inclusion in future editions of Terminologia Anatomica.

La actualización de términos anatómicos es esencial para facilitar la enseñanza-aprendizaje y comunicación internacional a través de publicaciones y presentaciones en eventos científicos. En la pared posterior de la axila, los músculos redondo mayor, redondo menor y tríceps braquial, forman tres espacios por donde discurren estructuras neurovasculares relevantes en la clínica. El estudio tuvo como objetivo definir y proponer términos para estos espacios omitidos por Terminologia Anatomica. En el diccionario A Latin Dictionary se investigó la definición en latín del término 'Spatium' y 'Espacio' en el Diccionario panhispánico de términos médicos (Real Academia Nacional de Medicina de España, 2023), además de los lexemas de las palabras 'escápula' y 'húmero' en el Diccionario Médico-Biológico, Histórico y Etimológico de la Universidad de Salamanca. También se investigó la presencia del término 'Spatium' en la Terminologia Anatomica. Por último, se revisaron 10 libros-textos de anatomía en español para identificar los términos utilizados para estos espacios y su relevancia clínica. Al revisar la última edición de Terminologia Anatomica, se observó que el término 'Spatium' aparece 25 veces en distintos capítulos y se evidenció que no aparecen términos para los espacios escapulohumerales en los capítulos de miembro superior. Además, en el 100 % de los libros-textos de anatomía revisados, se utiliza al menos un término para describir a los espacios escapulohumerales. Consideramos que los términos propuestos: 'Spatium humerotricipitale', 'Spatium scapulotricipitale' y 'Spatium teretricipitale' aluden con mayor precisión a la ubicación, ya que relaciona a las estructuras óseas y/ o musculares que lo forman. Por lo que sugerimos que estos términos sean revisados para incluirlos en futuras ediciones de Terminologia Anatomica.

Hiperandrogenismo por tumor ovárico de células esteroideas en paciente pediátrico / Hyperandrogenism due to ovarian steroid cell tumor in a pediatric patient

RESUMEN Los tumores de ovario son raros en pediatría. En este grupo, los tumores de células esteroideas representan el 0,1% de los casos y existen escasos reportes en la literatura. Presentamos el caso de una niña de 11 años con síntomas de engrosamiento de la voz, hirsutismo, acné y clitoromegalia. El análisis de laboratorio mostró niveles elevados de testosterona total y libre, niveles normales de 17-hidroxiprogesterona. La evaluación ecográfica reveló un agrandamiento significativo del ovario izquierdo. La paciente fue sometida a salpingooforectomía izquierda. Este hallazgo fue consistente con un tumor de células esteroideas de ovario. A esto le siguió la reducción gradual de los andrógenos y la mejoría clínica. Los tumores de células esteroideas son raros en pediatría, sin embargo, deben considerarse como diagnóstico diferencial al estudiar pacientes con síntomas de hiperandrogenismo.

ABSTRACT Ovarian tumors are rare in pediatrics. In this group, steroid cell tumors represent 0.1% of total cases and there are few reports in the literature. We present the case of an 11-year-old girl who suffered from deeper voice, hirsutism, acne and clitoromegaly. Analysis showed elevated levels of total and free testosterone, normal levels of 17-hydroxyprogesterone. Ultrasound evaluation revealed significant enlargement of the left ovary. The patient underwent left salpingo-oophorectomy. This finding is consistent with an ovarian steroid cell tumor. This is followed by gradual reduction of androgens and clinical improvement. Steroid cell tumors are rare in pediatrics, however, they should be considered as a differential diagnosis when studying patients with symptoms of hyperandrogenism.

A Prospective, Multicenter, Real-World Registry of Coronary Lithotripsy in Calcified Coronary Arteries: The REPLICA-EPIC18 Study.

BACKGROUND: Intravascular lithotripsy (IVL) has demonstrated effectiveness in the treatment of calcified lesions in selected patients with stable coronary disease. OBJECTIVES: The authors sought to assess the performance of coronary IVL in calcified coronary lesions in a real-life, all comers, setting. METHODS: The REPLICA-EPIC18 study prospectively enrolled consecutive patients treated with IVL in 26 centers in Spain. An independent core laboratory performed the angiographic analysis and event adjudication. The primary effectiveness endpoint assessed procedural success (successful IVL delivery, final diameter stenosis <20%, and absence of in-hospital major adverse cardiovascular events [MACE]). The primary safety endpoint measured freedom from MACE at 30 days. A predefined substudy compared outcomes between acute coronary syndrome (ACS) and chronic coronary syndrome (CCS) patients. RESULTS: A total of 426 patients (456 lesions) were included, 63% of the patients presenting with ACS. IVL delivery was successful in 99% of cases. Before IVL, 49% of lesions were considered undilatable. The primary effectiveness endpoint was achieved in 66% of patients, with similar rates among CCS patients (68%) and ACS patients (65%). Likewise, there were no significant differences in angiographic success after IVL between CCS and ACS patients. The rate of MACE at 30 days (primary safety endpoint) was 3% (1% in CCS and 5% in ACS patients [P = 0.073]). CONCLUSIONS: Coronary IVL proved to be a feasible and safe procedure in a "real-life" setting, effectively facilitating stent implantation in severely calcified lesions. Patients with ACS on admission showed similar angiographic success rates but showed a trend toward higher 30-day MACE compared with patients with CCS. (REPLICA-EPIC18 study [Registry of Coronary Lithotripsy in Spain]; NCT04298307).

Neuron parvum fluorescens, un Término con Influencia Anglo-Greco-Latina. Propuesta a Terminologia Neuroanatomica y Terminologia Histologica / Neuron Parvum Fluorescens, a Term with Anglo-Greco-Latin Influence. A Proposal to Terminologia Neuroanatomica and Terminologia Histologica

Las terminologías son utilizadas como instrumento lingüístico que permite la transmisión de conocimiento de manera precisa y sin ambigüedades en el ámbito de las ciencias. Los lineamientos de la Federative International Programme for Anatomical Terminology (FIPAT) refieren que la denominación de nombres estructurales debe ser descriptivos e informativos. Este estudio analiza las raíces lingüísticas que componen el término Neuron parvum valde fluorescens vigente en Terminologia Histologica y el término Neuron parvum fluorescens vigente en Terminologia Neuroanatomica. Las células pequeñas intensamente fluorescentes son neuronas que se encuentran en el sistema nervioso autónomo, distribuidas en los ganglios simpáticos. Estas células presentan sinapsis aferentes con terminales nerviosas simpáticas preganglionares y sinapsis eferentes con las dendritas de las neuronas posganglionares. Su función es regular la transmisión ganglionar, actuando como interneuronas con señalización paracrina y endocrina. Además, se caracterizan por ser células fluorescentes, que expresan catecolaminas; serotonina, noradrenalina y dopamina. Se realizó una búsqueda en Terminologia Histologica y Terminologia Neuroanatomica, con una traducción de los términos al español. Además, la búsqueda se complementó en un diccionario etimológico en inglés para los términos correspondientes. Esta investigación encontró diferencia entre la traducción del latín al español del término fluorescens, quien posee un origen etimológico muy diferente a su significado en español. El término Neuron parvum valde fluorescens en Terminologia Histologica y el término Neuron parvum fluorescens en Terminologia Neuroanatomica, identifican a la misma estructura. Se sugiere reemplazar ambos términos por Cateconeuron ganglionare, entregando así una correcta descripción de este tipo de neurona, considerando su ubicación y función. Además, de esta manera ser un término concordante en latín para su incorporación en Terminologia Neuroanatomica y Terminologia Histologica.

SUMMARY: Terminologies are used as a linguistic tool to convey knowledge in a precise and unambiguous manner in science. The guidelines of the Federative International Programme for Anatomical Terminology (FIPAT) state that the names given to structures should be both descriptive and informative. This study analyses the linguistic roots of the term Neuron parvum valde fluorescens in Terminologia Histologica and the term Neuron parvum fluorescens in Terminologia Neuroanatomica. Small intensely fluorescent cells are neurons found in the autonomic nervous system, distributed in the sympathetic ganglia, they have afferent synapses with preganglionic sympathetic nerve terminals and efferent synapses with the dendrites of postganglionic neurons, whose function is to regulate ganglionic transmission, acting as interneurons with paracrine and endocrine signalling. They are also characterized as fluorescent cells, producing the catecholamines: serotonin, noradrenaline and dopamine. A search was carried out in Terminologia Histologica and Terminologia Neuroanatomica, with a translation of the terms into Spanish. This was complemented by a search in an English etymological dictionary for the corresponding terms. This research found a difference between the Latin to English translation of the term fluorescens, which has a very different etymological origin to its English meaning. The term Neuron parvum valde fluorescens in Terminologia Histologica and the term Neuron parvum fluorescens in Terminologia Neuroanatomica identify the same structure. The proposal is to replace both terms with Cateconeuron ganglionare, thus affording an accurate description of this type of neuron, considering its location and function. Moreover, it would also be a concordant term in Latin for its incorporation into the Terminologia Neuroanatomica and Terminologia Histologica.

Study of Digastric Muscle in Brazilian Individuals / Estudio del Músculo Digástrico en Individuos Brasileños

SUMMARY: Correct detailed description of the anatomy of the digastric muscle (DM) in different populations should be carried out to improve the teaching of anatomy, avoid misinterpretations and help to avoid intercurrences during surgical procedures in the region. The aim of this study was to carry out a study of the DM in adult Brazilian individuals. The sample consisted of 50 DM from adult individuals (22 right side and 28 left side) fixed in 10 % formaldehyde. The morphology of the DM was observed, identifying possible anatomical variations; these were characterized and classified according to the number of the muscle bellies, direction of the fibre, and points of origin and insertion. The morphometric measurements were performed using a digital calliper. Student's t-test for dependent samples was used to measure differences between sides; one-way ANOVA was used to analyse the different classifications, and the chi-squared test to analyse qualitative variables, with significance threshold of 5 %. The anterior belly of the DM was classified as Type I in 28 samples (56 %), Type II in 20 (40 %) and Type III in 2 (4 %). The mean length was 37.8 mm, width 12.1 mm and thickness 5.39 mm, with no statistically significant differences found for these variables. The intermediate tendon of the DM was classified as Type I in 31 samples (62 %), Type II in 10 (20 %) and Type III in 9 (18 %); its mean total length was 45.1 mm. The posterior belly of the DM was Type I in 50 samples (100 %), with mean length 70.8 mm and width 8.15 mm. Anatomical variations of the DM, particularly its anterior belly, in Brazilian adults are very frequent. They must therefore be carefully identified to help avoid intercurrences during surgical procedures in the region, and to help correct evaluation of swollen lymph nodes in the submental triangle.

Con el propósito de ayudar en la enseñanza de la Anatomía se debe realizar una descripción correcta y detallada del músculo digástrico (MD), evitando malas interpretaciones y contribuyendo a evitar intercurrencias durante procedimientos quirúrgicos en la región. El objetivo de este estudio fue realizar un estudio del MD en individuos brasileños. Fueron utilizadas 50 muestras de MD de individuos adultos (22 del lado derecho y 28 del lado izquierdo) fijadas en formaldehido al 10 %. Se analizó la morfología del MD, identificando las posibles variaciones anatómicas, que fueron clasificadas según el número de vientres musculares, dirección de las fibras y lugar de origen e inserción. Para el análisis estadístico las medidas fueron realizadas con un paquímetro digital. Para el análisis estadístico fueron utilizadas las pruebas de t de Student, ANOVA de una vía para variables continuas y la prueba de chi-cuadrado con ajuste de Bonferroni para las variables categóricas. Se utilizó el software SPSS v. 28.0, considerándo umbral de significación de 5 %. El vientre anterior del MD se clasificó como Tipo I en 28 muestras (56 %), como Tipo II en 20 (40 %) y como Tipo III en 2 (4 %). El promedio de longitud fue de 37,8 mm, la anchura de 12,1 mm y el espesor de 5,39 mm, no siendo encontradas diferencias estadísticas significativas para estas variables. El tendón intermedio del MD fue Tipo I en 31 muestras (62 %), Tipo II en 10 (20 %) y Tipo III en 9 (18 %). El promedio de su longitud total fue de 45,1 mm. El vientre posterior del MD fue de Tipo I en 50 muestras (100 %), con promedio de longitud de 70,8 mm y de ancho de 8,15 mm. Las variaciones anatómicas del MD, particularmente de su vientre anterior, son muy frecuentes en brasileños adultos, por lo que deben ser identificadas detalladamente contribuyendo a evitar intercurrencias durante los procedimientos quirúrgicos en la región y también para propiciar la correcta evaluación de las adenopatías del espacio submentoniano.

Clinical significance of glycogen synthase kinase 3 (GSK-3) expression and tumor budding grade in colorectal cancer: Implications for targeted therapy.

INTRODUCTION: Glycogen synthase kinase 3 (GSK-3) has been proposed as a novel cancer target due to its regulating role in both tumor and immune cells. However, the connection between GSK-3 and immunoevasive contexture, including tumor budding (TB) has not been previously examined. METHODS: we investigated the expression levels of total GSK-3 as well as its isoforms (GSK-3ß and GSK-3α) and examined their potential correlation with TB grade and the programmed cell death-ligand 1 (PD-L1) in colorectal cancer (CRC) tumor samples. Additionally, we compared the efficacy of GSK-3-inhibition with PD-1/PD-L1 blockade in humanized patient-derived (PDXs) xenografts models of high-grade TB CRC. RESULTS: we show that high-grade (BD3) TB CRC is associated with elevated expression levels of total GSK-3, specifically the GSK-3ß isoform, along with increased expression of PD-L1 in tumor cells. Moreover, we define an improved risk stratification of CRC patients based on the presence of GSK-3+/PD-L1+/BD3 tumors, which are associated with a worse prognosis. Significantly, in contrast to the PD-L1/PD-1 blockade approach, the inhibition GSK-3 demonstrated a remarkable enhancement in the antitumor response. This was achieved through the reduction of tumor buds via necrosis and apoptosis pathways, along with a notable increase of activated tumor-infiltrating CD8+ T cells, NK cells, and CD4- CD8- T cells. CONCLUSIONS: our study provides compelling evidence for the clinical significance of GSK-3 expression and TB grade in risk stratification of CRC patients. Moreover, our findings strongly support GSK-3 inhibition as an effective therapy specifically targeting high-grade TB in CRC.

Selection/control concurrent optimization of BLDC motors for industrial robots.

This paper aims to concurrently select and control off-the-shelf BLDC motors of industrial robots by using a synergistic model-based approach. The BLDC motors are considered with trapezoidal back-emf, where the three-phase (a,b,c) dynamics of motors are modeled in a mechatronic powertrain model of the robot for the selection and control problem, defining it as a multi-objective dynamic optimization problem with static and dynamic constraints. Since the mechanical and electrical actuators' parameters modify the robot's performance, the selection process considers the actuators' parameters, their control input, operational limits, and the mechanical output to the transmission of the robot joints. Then, three objective functions are to be minimized, the motor's energy consumption, the tracking error, and the total weight of installed motors on the robot mechanism. The control parameterization approach via a cascade controller with PI controllers for actuators' voltage and a PID controller for actuators' torque is used to solve the multi-objective dynamic optimization problem. Based on simulations of the closed-loop system, a Pareto front is obtained to examine trade-offs among the objective functions before implementing any actuators in the existing robotic system. The proposed method is tested on an experimental platform to verify its effectiveness. The performance of an industrial robot with the actuators originally installed is compared with the results obtained by the synergic approach. The results of this comparison show that 10.85% of electrical power can be saved, and the trajectory tracking error improved up to 57.41% using the proposed methodology.

Study protocol for the epigenetic characterization of angor pectoris according to the affected coronary compartment: Global and comprehensive assessment of the relationship between invasive coronary physiology and microRNAs.

BACKGROUND: MicroRNAs (miRNAs) are noncoding RNAs involved in post-transcriptional genetic regulation with a proposed role in intercellular communication. miRNAs are considered promising biomarkers in ischemic heart disease. Invasive physiological evaluation allows a precise assessment of each affected coronary compartment. Although some studies have associated the expression of circulating miRNAs with invasive physiological indexes, their global relationship with coronary compartments has not been assessed. Here, we will evaluate circulating miRNAs profiles according to the coronary pattern of the vascular compartment affectation. STUDY AND DESIGN: This is an investigator-initiated, multicentre, descriptive study to be conducted at three centres in Spain (NCT05374694). The study will include one hundred consecutive patients older than 18 years with chest pain of presumed coronary cause undergoing invasive physiological evaluation, including fractional flow reserve (FFR) and index of microvascular resistance (IMR). Patients will be initially classified into four groups, according to FFR and IMR: macrovascular and microvascular affectation (FFR≤0.80 / IMR≥25), isolated macrovascular affectation (FFR≤0.80 / IMR<25), isolated microvascular affectation (FFR>0.80 / IMR ≥25) and normal coronary indexes (FFR>0.80 / IMR<25). Patients with isolated microvascular affectation or normal indexes will also undergo the acetylcholine test and may be reclassified as a fifth group in the presence of spasm. A panel of miRNAs previously associated with molecular mechanisms linked to chronic coronary syndrome will be analysed using RT-qPCR. CONCLUSIONS: The results of this study will identify miRNA profiles associated with patterns of coronary affectation and will contribute to a better understanding of the mechanistic pathways of coronary pathology.

Metabolic shift underlies tumor progression and immune evasion in S-nitrosoglutathione reductase-deficient cancer.

S-nitrosoglutathione reductase (GSNOR) is a denitrosylase enzyme that has been suggested to play a tumor suppressor role, although the mechanisms responsible are still largely unclear. In this study, we show that GSNOR deficiency in tumors is associated with poor prognostic histopathological features and poor survival in patients with colorectal cancer (CRC). GSNOR-low tumors were characterized by an immunosuppressive microenvironment with exclusion of cytotoxic CD8+ T cells. Notably, GSNOR-low tumors exhibited an immune evasive proteomic signature along with an altered energy metabolism characterized by impaired oxidative phosphorylation (OXPHOS) and energetic dependence on glycolytic activity. CRISPR-Cas9-mediated generation of GSNOR gene knockout (KO) CRC cells confirmed in vitro and in vivo that GSNOR-deficiency conferred higher tumorigenic and tumor-initiating capacities. Moreover, GSNOR-KO cells possessed enhanced immune evasive properties and resistance to immunotherapy, as revealed following xenografting them into humanized mouse models. Importantly, GSNOR-KO cells were characterized by a metabolic shift from OXPHOS to glycolysis to produce energy, as indicated by increased lactate secretion, higher sensitivity to 2-deoxyglucose (2DG), and a fragmented mitochondrial network. Real-time metabolic analysis revealed that GSNOR-KO cells operated close to their maximal glycolytic rate, as a compensation for lower OXPHOS levels, explaining their higher sensitivity to 2DG. Remarkably, this higher susceptibility to glycolysis inhibition with 2DG was validated in patient-derived xenografts and organoids from clinical GSNOR-low tumors. In conclusion, our data support the idea that metabolic reprogramming induced by GSNOR deficiency is an important mechanism for tumor progression and immune evasion in CRC and that the metabolic vulnerabilities associated with the deficiency of this denitrosylase can be exploited therapeutically. © 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.

Frequency, location, and diameter of the anastomosis between the posterior superior alveolar artery and the infraorbital artery in imaging studies: systematic review and meta-analysis.

The anastomosis between the posterior superior alveolar artery (PSAA) and the infraorbital artery (IOA) courses along half of the lateral wall of the maxillary sinus. Risk of injury to the anastomosis between PSAA and IOA during surgical procedures has been reported. The aim of the present study was to carry out a systematic review and meta-analysis to determine the frequency, location, and diameter of the anastomosis between PSAA and IOA in imaging studies (cone-beam computed tomography, spiral cone-beam computed tomography, and computed tomography). A search was carried out in the PubMed, EMBASE, and LILACS. Original works were included reporting imaging studies to analyze the frequency, location, and diameter of the anastomosis in humans. The risks of bias were analyzed using the AQUA tool. Generalized linear mixed models were used to estimate the frequency and the 95% CI in the meta-analysis. The variance in prevalence estimates was stabilized by logit transformation. The qualitative analysis included 49 studies with 10,837 patients. The frequency of the anastomosis between PSAA and IOA was 74% (prediction interval 0.20-0.97%). The anastomosis was most frequently located in the intraosseous region (60.0%), followed by the submembranous region (33.0%), and least frequently in an extraosseous location (5.0%). Arteries with diameter of 1.0-1.9 mm were most frequent (32.0%), followed by arteries with diameter less than 1 mm (23.0%); a small number with diameter greater than 2 mm was recorded (4.0%). These data can be used as a reference to help surgeons when planning interventions in the lateral wall of the maxillary sinus. Registration number: INPLASY, number 202120071.

Hyperinsulinism-hyperammonemia syndrome in two Peruvian children with refractory epilepsy.

OBJECTIVES: Congenital hyperinsulinism (HI) is a heterogeneous clinical disorder with great variability in its clinical phenotype, and to date, pathogenic variants in 23 genes have been recognized.  Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most frequent cause of this disease that shows an autosomal dominant pattern and is caused by an activating mutation of the GLUD1 gene, which responds favorably to the use of diazoxide. HI/HA syndrome presents with fasting hypoglycemia; postprandial hypoglycemia, especially in those with a high protein content (leucine); and persistent mild hyperammonemia. Neurological abnormalities, in the form of epilepsy or neurodevelopmental delay, are observed in a high percentage of patients; therefore, timely diagnosis is crucial for proper management. CASE PRESENTATION: We report the clinical presentation of two Peruvian children that presented with epilepsy whose genetic analysis revealed a missense mutation in the GLUD1 gene, one within exon 11, at 22% mosaicism; and another within exon 7, as well as their response to diazoxide therapy. To the best of our knowledge, these are the first two cases of HI/HA syndrome reported in Peru. CONCLUSIONS: HI/HA syndrome went unnoticed, because hypoglycemia was missed and were considered partially controlled epilepsies. A failure to recognize hypoglycemic seizures will delay diagnosis and adequate treatment, so a proper investigation could avoid irreversible neurological damage.

Efecto del ácido deoxicólico sobre la regulación del transporte iónico intestinal en la rata / Deoxycholic acid efect on intestinal ionic transport regulation in the rat

The intestine has a very important role in the homeostasis of the internal medium. Bile acids play a regulatory role in the digestion and absorption of nutrients. Among them, deoxycholic acid, when its luminal concentration increases due to bacterial overgrowth, modifies hydroelectrolytic transport, producing an increase in the volume of water and electrolytes in stools.

El intestino tiene un papel muy importante en la homeostasis del medio interno. Los ácidos biliares cumplen una función reguladora en la digestión y absorción de nutrientes. Entre ellos el ácido deoxicólico, cuando aumenta su concentración luminal por sobrecrecimiento bacteriano, modifica el transporte hidroelectrolítico produciendo aumento del volumen de agua y electrolitos en las deposiciones.

Validation of Quantitative Flow Ratio-Derived Virtual Angioplasty with Post-Angioplasty Fractional Flow Reserve-The QIMERA-I Study.

Background: Quantitative flow ratio (QFR) virtual angioplasty with pre-PCI residual QFR showed better results compared with an angiographic approach to assess post-PCI functional results. However, correlation with pre-PCI residual QFR and post-PCI fractional flow reserve (FFR) is lacking. Methods: A multicenter prospective study including consecutive patients with angiographically 50-90% coronary lesions and positive QFR results. All patients were evaluated with QFR, hyperemic and non-hyperemic pressure ratios (NHPR) before and after the index PCI. Pre-PCI residual QFR (virtual angioplasty) was calculated and compared with post-PCI fractional flow reserve (FFR), QFR and NHPR. Results: A total of 84 patients with 92 treated coronary lesions were included, with a mean age of 65.5 ± 10.9 years and 59% of single vessel lesions being the left anterior descending artery in 69%. The mean vessel diameter was 2.82 ± 0.41 mm. Procedural success was achieved in all cases, with a mean number of implanted stents of 1.17 ± 0.46. The baseline QFR value was 0.69 ± 0.12 and baseline FFR and NHPR were 0.73 ± 0.08 and 0.82 ± 0.11, respectively. Mean post-PCI FFR increased to 0.87 ± 0.05 whereas residual QFR had been estimated as 0.95 ± 0.05, showing poor correlation with post-PCI FFR (0.163; 95% CI:0.078-0.386) and low diagnostic accuracy (30.9%, 95% CI:20-43%). Conclusions: In this analysis, the results of QFR-based virtual angioplasty did not seem to accurately correlate with post-PCI FFR.

Macroscopic analysis of the insertion points of the lateral pterygoid muscle in adult individuals / Análisis macroscópico de los lugares de inserción del músculo pterigoideo lateral en individuos adultos

SUMMARY: The lateral pterygoid muscle (LPM) is intimately related with the temporomandibular joint (TMJ), playing an important role in its physiology. This makes it of interest to researchers who investigate temporomandibular disorders. The literature indicates that anatomical variations exist in the insertion of the superior fascicle of the LPM. Imaging and cadaver studies have revealed that the LPM may present an accessory fascicle. The study object was to carry out macroscopic analysis of the LPM, examining the origin and insertion of its superior and inferior fascicles. The study used 38 half-heads of adult individuals fixed in formaldehyde 10 %. To carry out macroscopic analysis of the LPM, an initial incision was made along the lower margin of the zygomatic arch; the origin of the masseter muscle was then dissected, separating its insertion on the lateral face of the mandibular ramus and retracting the muscle to posteroinferior. Two incisions were made on the zygomatic arch and the insertion of the temporal muscle on the coronoid process was identified with dissection pincers; it was dissected to gain access to the infratemporal fossa and the two fascicles of the LPM. The superior fascicle (SF) originated on the infratemporal face of the greater wing of the sphenoid, and on the superior third of the lateral face of the lateral lamina of the pterygoid process of the sphenoid in 26 samples. In 12 samples, it originated on the greater wing of the sphenoid and the infratemporal crest of the sphenoid. Type I insertion was found in 20 samples, Type II in 6 samples and Type III in 12 samples. In all the samples analysed, the inferior fascicle (IF) originated on the inferior two thirds of the lateral face of the lateral lamina of the pterygoid process and on the lateral face of the pyramidal process of the palatine, with insertion on the pterygoid fovea. The accessory fascicle (AF) of the LPM was present in 6 samples. The AF originated on the greater wing of the sphenoid in 2 cases and inferior to the superior fascicle in 4 cases; its insertion was on the capsular disc complex in all cases. The results obtained in our study contribute anatomical data on the LPM in Brazilian adult individuals, with evaluation of its insertion points.

El músculo pterigoideo lateral (MPL) presenta íntima relación con la articulación temporomandibular (ATM) y desempeña un rol importante en la fisiología de esta articulación, despertando el interés de investigadores que se dedican al estudio de los trastornos temporomandibulares. La literatura señala que existen variaciones anatómicas del MPL, con respecto a la inserción del fascículo superior. Los estudios cadavéricos e imagenológicos han revelado que el MPL puede presentar un fascículo accesorio. El objetivo del estudio fue realizar un análisis macroscópico del MPL, examinando el origen e inserción de sus fascículos superior e inferior. Se utilizaron 38 hemicabezas de individuos adultos fijadas en formaldehído al 10 %. Para realizar el análisis macroscópico del MPL se realizó inicialmente una incisión a lo largo del margen inferior del arco cigomático, luego se seccionó el origen del músculo masétero separando su inserción en la cara lateral de la rama de la mandíbula, retrayendo al músculo en sentido posteroinferior. Se hicieron dos cortes en el arco cigomático y con pinzas de disección se identificó la inserción del músculo temporal en el proceso coronoides, el cual se seccionó para ingresar a la fosa infratemporal y acceder a ambos fascículos del MPL. El fascículo superior (FS) del MPL se originó en la cara infratemporal del ala mayor del esfenoides y en el tercio superior de la cara lateral de la lámina lateral del proceso pterigoides del esfenoides en 26 muestras. En 12 muestras se originó en el ala mayor del esfenoides y cresta infratemporal del esfenoides. Con relación a su inserción, se encontró el Tipo I en 20 muestras; el Tipo II en 6 muestras y el Tipo III en 12 muestras. En todas las muestras analizadas el origen del fascículo inferior (FI) del MPL fue en los dos tercios inferiores de la cara lateral de la lámina lateral del proceso pterigoides y en la cara lateral del proceso piramidal del palatino insertándose en la fóvea pterigoidea. El fascículo accesorio (FA) del MPL estuvo presente en 6 muestras. El FA se originó en el ala mayor del esfenoides en 2 casos e inferior al fascículo superior en 4 casos y su inserción, en el complejo disco capsular en todos los casos. Mediante los resultados obtenidos en nuestro estudio estamos aportando datos anatómicos en relación al MPL en individuos brasileños adultos, evaluándolo con respecto a sus lugares de inserción.

High prevalence of angle-closure glaucoma in Vogt-Koyanagi-Harada disease.

PURPOSE: To determine the prevalence, clinical characteristics, and mechanisms of secondary glaucoma in Vogt-Koyanagi-Harada (VKH) disease. METHODS: This retrospective, longitudinal observational study analyzed the demographic data, disease stage, glaucoma development, intraocular pressure, best-corrected visual acuity, lens status, optic nerve, gonioscopy, management, and visual outcomes of VKH disease. Clinical features were used to categorize the stage of VKH disease. VKH eyes were divided into two groups, with or without glaucoma, undergoing further analysis, including statistical analysis. RESULTS: 305 eyes of 155 patients with VKH disease with a median follow-up of 22 months were included. Secondary glaucoma developed in 67 (22%) eyes, most of which (64.2%) had chronic recurrent VKH at presentation. Angle-closure was present in 55 (82.1%) of glaucoma eyes. Peripheral anterior and posterior synechiae were present in 58 (86.6%) and 51 (76.1%) eyes, respectively. Pupillary block and posterior synechiae resulted in iris bombé in 17 (25.4%) eyes with glaucoma. At the last visit, visual acuity was worse in eyes with glaucoma (p < 0.001). CONCLUSION: We found that angle-closure disease is a significant cause of secondary glaucoma in VKH. Eyes with glaucoma were more likely to present in the chronic recurrent stage of the disease.

Evaluation of the presence of the third head on the lateral pterygoid muscle in adult individuals / Evaluación de la presencia de la tercera cabeza del músculo pteriogoideo lateral en individuos adultos

SUMMARY: The lateral pterygoid muscle (LPM) is one of the muscles involved in jaw movements, and is therefore of great importance in the physiology of the temporomandibular joint. This muscle has classically been considered to have two heads, superior and inferior, however previous studies have indicated the presence of a third head (TH). The object of this research was therefore to evaluate, through a study in cadavers, the presence of the third head of the LPM and its relation with the joint disc of the TMJ in adult individuals. The study used 30 half-skulls of adult individuals, 11 right side and 19 left side. The number of heads on each LPM was analysed, with the length and thickness of each. The Chi-squared, Mann-Whitney U, Kruskall-Wallis and Spearman's correlation coefficient tests were applied, with a significance threshold of 5 %. The TH of the LPM was present in 20 % of the samples. Statistically significant differences were found in the thickness of the superior head (SH) vs. the inferior head (IH) (p<0.001) and between TH vs. SH and TH vs. IH (p=0.010). No correlation was found between the thickness of the heads or in their lengths. The LPM most frequently presents two heads, superior and inferior. The TH is an anatomical variation that may be present in 20 % of cases. The IH usually presents the greatest thickness. The use of cadavers is a good method for analysing the presence of the TH and the morphometry of the various heads of the LPM.

RESUMEN: El músculo pterigoideo lateral (MPL) es uno de los músculos involucrados en los movimientos mandibulares y por consiguiente tiene una gran importancia en la fisiología de la articulación temporomandibular (ATM). Clásicamente se ha considerado como un músculo que presenta dos cabezas, una superior y otra inferior, sin embargo estudios anteriores han señalado la presencia de una tercera cabeza (TC). El objetivo fue evaluar, mediante estudio en cadáveres, la presencia de la tercera cabeza del MPL y su relación con el disco articular de la ATM de individuos adultos. Se utilizaron 30 hemicabezas de individuos adultos, 11 del lado derecho y 19 en el lado izquierdo. Se analizó el número de cabezas, longitud y grosor de cada cabeza. Se aplicaron las pruebas de chi-cuadrado, U-Mann-Whitney, Kruskall-Walis y coeficiente de correlación de Spearman, con umbral de significación de 5 %. La TC del MPL estuvo presente en 20 % de las muestras. Se encontraron diferencias estadísticas significativas para el grosor del la cabeza superior (CS) vs. cabeza inferior (CI) (p<0,001) y entre TC vs. CS y TC vs. CI (p=0,010). No se encontró correlación entre el grosor de las cabezas o para la longitud de las cabezas. El MPL se presenta más frecuentemente con dos cabezas, una superior y otra inferior. La TC es una variación anatómica que puede estar presente en un 20 % de los casos. La CI suele ser la que presenta mayor grosor. En cuanto a los métodos para análisis de presencia de la TC y morfometría de las distintas cabezas del MPL el uso de cadáveres representa una buena alternativa.

[Social, cognitive and psychomotor development in peruvian children with congenital hypothyroidism]. / Desarrollo social, cognitivo y psicomotor en niños peruanos con hipotiroidismo congénito.

INTRODUCTION: Congenital hypothyroidism (CH) is the most common cause of preventable intellectual disability in the pediatric population. Early diagnosis and treatment during the first month of life are essential to avoid delaying the neuropsychological development of these patients. OBJECTIVE: to describe the social, cognitive, and psychomotor development of children with CH treated at the National Institute of Child Health (INSN) in Lima, Peru. PATIENTS AND METHOD: Retrospective analysis of 26 CH pa tients seen during 2012-2017 at INSN were reviewed. The aspects of neuropsychological development studied were: cognitive development (IQ), social development (social category), and psychomotor development (gait, speech, and chest control). The IQ was classified according to the result of the Weschler IV scale. An analysis was carried out with the Fisher-Freeman-Halton test to verify if there was a difference in the frequency of the variables according to the age of diagnosis and beginning of treatment. RESULTS: Most of the patients presented a borderline IQ (38.5%), the most frequent social category was educable (88.7%), and most of the patients presented delay in developing the speech (88.5%). In the Fisher-Freeman-Halton test, there was only a statistically significant increase in the number of cases of speech delay in patients treated between 22 days and 12 months of age (c2 = 11.246, p = 0.002, V of Cramer = 0.778). CONCLUSION: Neuropsychological developmental delay was more frequent in patients with CH diagnosed and treated after 21 days of age.