Home-Based Trimodal Prehabilitation in Patients with Peritoneal Carcinomatosis Undergoing Cytoreductive Surgery: Effect on Functional Walking Capacity and Skeletal Muscle Mass.

BACKGROUND: Patients with peritoneal carcinomatosis often suffer from loss of skeletal muscle mass and require extensive surgery. Multimodal prehabilitation may improve physical status but its benefits for these specific patients remain unknown. This study aimed to evaluate the effect of prehabilitation on functional walking capacity and skeletal muscle mass, as well as its association with postoperative complications. PATIENTS AND METHODS: A prospective study of patients with peritoneal carcinomatosis following a home-based trimodal prehabilitation program was carried out. Functional walking capacity was assessed with the 6-min walk test (T6MWT), and by the appendicular skeletal muscle index (ASMI) estimated by bioelectrical impedance analysis. Data were collected at the first medical appointment and on the day before surgery. A 90-day postoperative morbidity was registered according to the Clavien-Dindo classification. RESULTS: A total of 62 patients were included in the analysis. Women were more prevalent (77.4%) and peritoneal metastasis from ovarian origin accounted for 48.4%. Clavien II-V grades occurred in 30 (57.7%) patients. After prehabilitation, functional walking capacity improved by 42.2 m (39.62-44.72 m) compared with baseline data (p < 0.001), but no improvement was observed in the ASMI (p = 0.301). Patients able to walk at least 360 m after prehabilitation suffered fewer Clavien-Dindo II-V postoperative complications (p = 0.016). A T6MWT of less than 360 m was identified as an independent risk factor in the multivariable analysis (OR 3.99; 1.01-15.79 p = 0.048). CONCLUSIONS: This home-based trimodal prehabilitation program improved functional walking capacity but not ASMI scores in patients with peritoneal metastasis before surgery. A T6MWT of less than 360 m was found to be a risk factor for postoperative complications.

A pain in the pocket: Prevalence of pocket pain in patients with implantation of neuromodulation systems: A retrospective study.

INTRODUCTION: Implantable pulse generator (IPG) is a neurostimulation therapy mediated by electrodes and surgically implanted in a subcutaneous "pocket" used for the control of numerous pathologies. This study examines both the prevalence of pain associated with IPG implantation ("pain pocket syndrome") and its associated characteristics. MATERIALS AND METHODS: 56 patients with an IPG were included in the study. A health questionnaire was conducted to determine the presence of pain associated with the pocket and its neuropathic characteristics, as well as associated aesthetic concerns, location, situations that accentuate or alleviate pain, medications used for baseline and pocket pain control and other factors associated. RESULTS: Pain in the area of implantation of the IPG had a prevalence of 52.6% of patients (n = 27), in our sample, with a mean score on the visual analogic scale (VAS) of 4.9 points [3.9-5.8 points], with neuropathic characteristics in 53.3% (n = 16) of the patients with pain, with differences between the mean VAS score of the female (5.5 [4.3-5.8 points]) and males (3.5 points [2.1-4.9 points]) (p = 0.04). CONCLUSION: Pocket pain is a condition with a higher prevalence than described in previous studies, being of a higher intensity in females, involving a moderate pain in the area of implantation of the neuromodulating therapy. This pain has neuropathic characteristics and could require a repositioning intervention. Hence, more studies in this field should be carried to detect and prevent this syndrome.

Comparison of sediment bioavailable methods to assess the potential risk of metal(loid)s for river ecosystems.

A heavily impacted river basin (Caudal River, NW Spain) by Hg and Cu mining activities, abandoned decades ago, was used to evaluate the environmental quality of their river sediments. The obtained results compared with reference values established by the US EPA and the Canadian Council of Ministers of the Environment for river sediments, have shown that the main elements of environmental concern are arsenic (As), mercury (Hg) and, to a lesser extent, copper (Cu), which reach concentrations up to 1080, 80 and 54 mg kg-1, respectively. To understand the role that river sediments play in terms of risk to ecosystem health, a comparison has been made between the total content of metal(oid)s in the sediments and the bioavailable contents of the same elements in pore water, passive DGT (Diffusive Gradients in Thin films) samplers and the sediment extractant using acetic acid. A good correlation between the As and Cu contents in the DGTs and the pore water was found, resulting in a transfer from the pore water to the DGT of at least 47 % of the Cu and more than 75 % of the As when the concentrations were low, with a deployment time of 4 days. When As and Cu concentrations were higher, their transfer was not so high (above 23.6 % for As and 19.3 % for Cu). The transfer of Hg from the pore water to the DGT was practically nil and does not seem to depend on the content of this metal. The fraction extracted with acetic acid, conventionally accepted as bioavailable, was clearly lower than that captured by DGTs for As and Cu (≤5 % and ≤8.5 % of the total amount, respectively), while it was similar for Hg (0.2 %).

Cyanoacrylate versus suture as flap closure methods in mandibular third molar surgery: a split-mouth randomized controlled clinical study.

BACKGROUND: Sutures have been the standard flap closure method of choice following mandibular third molar surgery but can lead to some complications. Tissue adhesives, including cyanoacrylate, have emerged as alternative flap closure method in this surgery to overcome such drawbacks. However, limited clinical trials can be found. Therefore, the aim of this clinical study was to compare two methods of flap closure in mandibular third molar surgery, cyanoacrylate and 4/0 silk sutures, by assessing post-operative outcome measures (pain, swelling, trismus, and healing) and patient-reported outcome measures (PROMs). MATERIAL AND METHODS: A randomized split-mouth clinical trial was designed, in which mandibular third molar (M3M) extractions were performed, where the control side flap was closed with 4/0 silk sutures and the test side flap with cyanoacrylate. Swelling, pain, trismus, healing, and PROMs were recorded post-operatively. These variables were analyzed by means of the nonparametric Mann-Whitney U test, using SPSS statistical software version 28.0.0 (IBM® SPSS®, Chicago, IL, USA). For all results, a 95% confidence interval was recorded (significance level p < 0.05, two-tailed). RESULTS: A total of 17 patients were recruited and 34 mandibular third molar extractions were performed. No statistically significant differences were found in terms of swelling, pain, trismus, healing, and PROMs between both groups (p<0.05). CONCLUSIONS: No statistically significant differences were found between flap closure with 4/0 silk sutures and cyanoacrylate, in terms of surgical post-operative outcomes and PROMs. However, further studies with larger sample sizes are required to be able to affirm it with greater certainty.

[Relationship between frailty and functional status in lung transplant candidates]. / Relación entre la fragilidad y la capacidad funcional en los pacientes candidatos a trasplante de pulmón.

INTRODUCTION: Lung transplant (LT) is one of the therapeutic options for patients with terminal respiratory diseases. It is highly important to incorporate the functional status and frailty assessment into the selection process of candidates for LT. OBJECTIVES: Identify the prevalence of frailty in the LT waiting list. Study the relationship between frailty, functional status, Lung Allocation Score (LAS) and muscular dysfunction. METHODOLOGY: Descriptive transversal study of patients on the waiting list for LT. POPULATION: 74 patients with chronic respiratory diseases assessed by the lung transplant committee and accepted to be transplanted in a university hospital in Barcelona. The outcome variables were frailty status was evaluate for SPPB test, functional capacity was evaluate for the six-minute walking test (6MWT) and muscular dysfunction. The results were analyzed with the statistical package STATA 12. RESULTS: Sample of 48 men and 26 women, with a median age of 56.55 years (SD 10.87. The prevalence of frailty assessed with the SPPB was 33.8% (8.1% are in frailty and 25.7% are in a state of pre-frailty). There is a relationship between the SPPB, 6MWT and maximal inspiratory pressure, but not with others force values. There is a relationship between the risk of frailty (scores below 9 in SPPB) and the meters walked in 6 but not with the LAS. CONCLUSIONS: The risk of frailty in patients with terminal chronic respiratory diseases is high. Frailty is related with functional capacity, but not with LAS.

Dynamics of multisystem inflammatory syndrome in children associated to COVID-19 in Chile: Epidemiologic trends during pandemic, before and after children vaccination.

BACKGROUND: Multisystem inflammatory syndrome associated to Covid-19 (MIS-C) is one of the most severe outcomes of SARS-CoV-2 in children. Covid-19 vaccines were successfully implemented in Chile for the pediatric population since 2021, using both mRNA and inactivated platforms. Effectiveness against MIS-C has been reported for mRNA vaccines. The aim of this study was to describe the epidemiologic trend of MIS-C in Chile during Covid-19 pandemic, both before and after the availability of vaccination for children. MATERIALS AND METHODS: Analytic study of MIS-C cases from April 2020 to December 2022. Epidemiological data, SARS-CoV-2 variants and vaccination uptake information were obtained from the Epidemiology Department-Ministry of Health, Institute of Public Health and the National Immunization Program, respectively. RESULTS: 496 cases of MIS-C were reported, 58 % males. Median age was 5 years and most frequent age-cohorts were 6-11 and 0-2 years old with a 33 % each. After the introduction of the Covid-19 vaccine, most cases occurred in children aged 0-2 years. Incidence rates were 3.8, 5.4 and 1.7 per 100,000 inhabitants in 2020, 2021 and 2022, respectively. 97 % of cases (481) occurred in unvaccinated subjects. On those previously vaccinated (15), all but one case occurred in children receiving the inactivated vaccine. No association among circulating variants and incidence was observed. Incidence rate reduction (IRR) comparison between 2020 and 2021-2022 periods was 0.72 (CI 95 % 0.65-0.81, p < 0.05) overall; 0.86 for 0-2 years (CI 95 %:0.71-1; p = 0.12); 0.88 for 3-5 years (CI 95 %:0.69-1.11; p = 0.28); 0.61 for 6-11 years (CI 95 %: 0.50-0.75; p < 0.05); and 0.64 for 12-17 years (CI 95 %:0.47-0.89; p < 0.05), consistent with vaccination uptake during the studied period: 63 % for 3-5 years, 91 % for 6-11 years, and 99 % for 12-17 years. CONCLUSIONS: A decline of MIS-C incidence and a shift to younger, unvaccinated population overtime was observed. IRR decreased in age-cohorts which achieved high vaccination rates.

Titanium mesh for guided bone regeneration: a systematic review.

This systematic review aimed to evaluate results reported in the literature regarding the success rate of the titanium mesh technique for the placement of dental implants. The topic focused on titanium mesh used as a physical barrier for ridge reconstruction in cases of partial or total edentulism. The authors conducted an electronic search of four databases up to October 2023. Six articles fulfilled the inclusion criteria and were analysed. A total of 100 titanium meshes with a minimum of 4.6 months follow up after surgery were studied, and 241 implants were placed. The review shows that the use of titanium mesh is a predictable method for the rehabilitation of complex atrophic sites. Further investigation generating long-term data is needed to confirm these findings.

Research Note: Validation of a new differentiation approach using the commercial ASAPTM media to detect the Salmonella 441/014 vaccine strain.

Vaccination is one of the most important control tools to reduce Salmonella in poultry production. In order for a live vaccine to be licensed for field use it should be provided with the detection methods to differentiate it from field strains. This paper aims to describe the validation of an alternative method for the differentiation of the Salmonella 441/014 vaccine strain from field strains, using a chromogenic Media, ASAP from bioMérieux. The ASAP-based differentiation method was compared with already authorized methods, namely the Anicon SE Kylt PCR DIVA 1 assay and Ceva S-Check Salmonella differentiation kit, following the ISO 16140-6:2019 validation method guidelines. A Generalised Linear Model was fitted to the data to determine the inclusivity and exclusivity of differentiation methods (PCR Kylt vs. S-Check vs. ASAPTM). Statistical differences were based on a P-value level of < 0.05 (SPSS Inc., Chicago, IL). In this study, we show that the ASAP media was able to differentiate Salmonella Enteritidis vaccine strains from field strains, obtaining 100% agreement between the three differentiation assays. This differentiation approach is quicker, easier to deploy and cheaper as compared to alternative methods.

Papel del radiofarmacéutico clínico en la seguridad del paciente durante los estudios de perfusión miocárdica de esfuerzo con vasodilatadores / Role of the clinical radiopharmacist in patient safety during myocardial perfusion imaging with vasodilator stress agents

Objetivos: Evaluar el papel del radiofarmacéutico en un equipo multidisciplinar en la detección de contraindicaciones del regadenosón para su uso seguro en pacientes a los que se solicitó una SPECT de perfusión miocárdica. Métodos: Se estudió ambispectivamente su uso seguro en 1.905 pacientes (54,1% mujeres, edad media: 66,6±11,7 años, rango: 20-95años). Se registraron datos relativos al sexo, a la edad, al historial médico, a la medicación, a las alergias medicamentosas y a las contraindicaciones para el estrés farmacológico, así como las recomendaciones realizadas al médico nuclear responsable. Resultados: Las contraindicaciones detectadas y las correspondientes recomendaciones fueron las siguientes: riesgo de prolongación del intervalo QTc (7,5%): comprobación previa del intervalo QTc y monitorización del ECG; ictus o AIT previo (4,2%): evaluación de estenosis carotídea; alergia a salicilatos y/o sulfamidas (3,1%): empleo de [99mTc]Tc-MIBI; epilepsia o riesgo de convulsiones (2,4%): uso de adenosina o reconsiderar su indicación; tratamiento con corticosteroides sistémicos en EPOC severa (1,3%): reevaluar las condiciones del paciente; EPOC reagudizada (0,8%): posponer hasta la resolución del episodio agudo; asma grave (0,4%): no realizar la prueba; toma de metilxantinas (0,3%): evitar su consumo previo; otras (6,1%): evaluación de cada contraindicación. No se observaron contraindicaciones en el 73,6% de los pacientes. Se anularon el 2,9% de las peticiones debido a contraindicaciones absolutas. Conclusiones: Empleando una metodología de trabajo sistemática, el radiofarmacéutico detectó un elevado número de incidencias, presentando uno de cada cuatro pacientes alguna contraindicación clínica. Las recomendaciones emitidas fueron aceptadas por los médicos nucleares, que modificaron su enfoque, incrementando así la seguridad de estos pacientes.(AU)

Aim: To assess the radiopharmacist's role in a multidisciplinary team focused on the contraindications of regadenoson in order to ensure the safe use of pharmacologic vasodilator stress agents in patients undergoing SPECT-MPI. Methods: We ambispectively studied its safe use in 1905 patients (54.1% female, mean age: 66.6±11.7 years, range: 20-95years). Sex, age, medical history, medications, drug allergies, and contraindications for stress testing were registered together with recommendations for the nuclear physician in charge. Results: Detected contraindications and corresponding recommendations were as follows: risk factors for QTc interval prolongation 7.5% — measurement of QTc interval previously to test and monitor ECG; prior stroke or TIA 4.2% — consider carotid stenosis assessment; salicylates/sulfonamides allergy 3.1% — use 99mTc-sestamibi; epilepsy or risk factors for seizures 2.4% — use of adenosine or reconsider test indication; systemic corticosteroid therapy for severe COPD 1.3% — reassessment of patient's condition; acute exacerbation of COPD 0.8% — defer test until acute episode is over; severe asthma 0.4% — do not perform test; methylxanthine ingestion 0.3% — avoid consumption previously; other 6.1% — evaluation of other contraindications. No contraindications were detected in 73.6% of patients. The test was cancelled due to absolute contraindications in 2.9% of the requests. Conclusions: Working in a systematic way, the radiopharmacist was able to detect a high number of issues related to regadenoson, with one out of four patients presenting some clinical contraindication. The recommendations given by the radiopharmacist were well accepted by the nuclear physicians who changed their approach contributing to increase the safety of patients referred for MPI.(AU)

Efficacy of an aloe vera, chamomile, and thyme cosmetic cream for the prophylaxis and treatment of mild dermatitis induced by radiation therapy in breast cancer patients (the Alantel study).

Objectives: Radiation-induced dermatitis (RD) is one of the most common toxicities in radiation therapy (RT) patients. Corticosteroids, immunosuppressants, and natural products (NPs) have been used as treatment. The objective was to evaluate the efficacy of a NPs-based cream (Alantel®) to reduce the incidence of RD in women with breast cancer undergoing RT treatment. Design: We conducted a controlled, randomized, double-blind clinical trial. Setting: Radiation Oncology Unit of the Reina Sofía Hospital and 5 Primary Care centers of the Cordoba and Guadalquivir Health District (Spain). Interventions: Patients assigned to the experimental group (GTA) were treated with Alantel, while those in the control group (GTE) were treated with a moisturizer and emollient cream. Main outcome measures: The primary outcome variable was the incidence of RD. RD-free time, duration of RD, quality of life, and product safety were also assessed. Results: Seventy patients were included in the study, 35 in the GTA and 35 in the GTE. The incidence of RD was lower in the GTA (71.4%) than in the GTE (91.4%) after 4 weeks of follow-up (RR = 0.78; NNT = 5; p < 0.031). The Skindex-29 questionnaire showed differences in the statement: "My skin condition makes it hard to work or do hobbies" (17.1% in the GTE vs. 2.9% in GTA; p = 0.024). Conclusions: The higher efficacy of Alantel® compared to the control cream in reducing the incidence of RD in women with breast cancer has been demonstrated.

Guidelines for inhaled sedation in the ICU.

INTRODUCTION AND OBJECTIVES: Sedation is used in intensive care units (ICU) to improve comfort and tolerance during mechanical ventilation, invasive interventions, and nursing care. In recent years, the use of inhalation anaesthetics for this purpose has increased. Our objective was to obtain and summarise the best evidence on inhaled sedation in adult patients in the ICU, and use this to help physicians choose the most appropriate approach in terms of the impact of sedation on clinical outcomes and the risk-benefit of the chosen strategy. METHODOLOGY: Given the overall lack of literature and scientific evidence on various aspects of inhaled sedation in the ICU, we decided to use a Delphi method to achieve consensus among a group of 17 expert panellists. The processes was conducted over a 12-month period between 2022 and 2023, and followed the recommendations of the CREDES guidelines. RESULTS: The results of the Delphi survey form the basis of these 39 recommendations - 23 with a strong consensus and 15 with a weak consensus. CONCLUSION: The use of inhaled sedation in the ICU is a reliable and appropriate option in a wide variety of clinical scenarios. However, there are numerous aspects of the technique that require further study.

Energy conversion theorems for some linear steady states.

One of the main issues that real energy converters present, when they produce effective work, is the inevitable entropy production. Within the context of nonequilibrium thermodynamics, entropy production tends to energetically degrade human-made or living systems. On the other hand, it is not useful to think about designing an energy converter that works in the so-called minimum entropy production regime since the effective power output and efficiency are zero. In this paper we establish some energy conversion theorems similar to Prigogine's theorem with constrained forces. The purpose of these theorems is to reveal trade-offs between design and the so-called operation modes for (2×2)-linear isothermal energy converters. The objective functions that give rise to those thermodynamic constraints show stability. A two-mesh electric circuit was built as an example to demonstrate the theorems' validity. Likewise, we reveal a type of energetic hierarchy for power output, efficiency, and dissipation function when the circuit is tuned to any of the operating regimes studied here. These are maximum power output (MPO), maximum efficient power (MPη), maximum omega function (MΩ), maximum ecological function (MEF), maximum efficiency (Mη), and minimum dissipation function (mdf).

Role of the clinical radiopharmacist in patient safety during myocardial perfusion imaging with vasodilator stress agents.

AIM: To assess the radiopharmacist's role in a multidisciplinary team focused on the contraindications of regadenoson in order to ensure the safe use of pharmacologic vasodilator stress agents in patients undergoing SPECT-MPI. METHODS: We ambispectively studied its safe use in 1905 patients (54.1% female, mean age: 66.6±11.7 years, range: 20-95 years). Sex, age, medical history, medications, drug allergies, and contraindications for stress testing were registered together with recommendations for the nuclear physician in charge. RESULTS: Detected contraindications and corresponding recommendations were as follows: risk factors for QTc interval prolongation 7.5% - measurement of QTc interval previously to test and monitor ECG; prior stroke or TIA 4.2% - consider carotid stenosis assessment; salicylates/sulfonamides allergy 3.1% - use 99mTc-sestamibi; epilepsy or risk factors for seizures 2.4% - use of adenosine or reconsider test indication; systemic corticosteroid therapy for severe COPD 1.3% - reassessment of patient's condition; acute exacerbation of COPD 0.8% - defer test until acute episode is over; severe asthma 0.4% - do not perform test; methylxanthine ingestion 0.3% - avoid consumption previously; other 6.1% - evaluation of other contraindications. No contraindications were detected in 73.6% of patients. The test was canceled due to absolute contraindications in 2.9% of the requests. CONCLUSIONS: Working in a systematic way, the radiopharmacist was able to detect a high number of issues related to regadenoson, with one out of four patients presenting some clinical contraindication. The recommendations given by the radiopharmacist were well accepted by the nuclear physicians who changed their approach contributing to increase the safety of patients referred for MPI.

Safety and feasability of ureteroscopy for pediatric stone, in children under 5 Years (SFUPA 5): A French multicentric study.

INTRODUCTION: Ureteroscopy (URS) can be proposed as first-line therapy for the management of pelvic stones from 10 to 20 mm and for lower ureteric stones in children. However, little is known about the success and the morbidity of URS in young children. Ureteroscopic treatment may present matters in young children because of the small size of the pediatric kidney and the small size of the collecting system. OBJECTIVE: To assess safety and efficacy of URS for the treatment of urinary stones in children aged of 5 years or less. STUDY DESIGN: After the institutional ethical board approval was obtained, we conducted a retrospective, analytic, multicentric study that included all URS performed between January 2016 and April 2022 in children aged of 5 years or less. In this non-comparative case series, anonymized pooled data were collected from 7 tertiary care centers of pediatric patients. Endpoints were the one-session SFR at 3 months and per and postoperatives complications. Descriptive statistics were applied to describe the cohort. RESULTS: Eighty-three patients were included. For them, 96 procedures were performed at the median age of 3.5 years (IQR: 0.8-5) and median weight of 14 Kg (6.3-23). Median stone size was 13 mm (4-45). There were 65 (67 %) renal stones treated with flexible URS, most of which were in the renal pelvis (30 %) and in the lower calix (33 %). A ureteral access sheath was used in 91 % procedures. Preoperative ureteral stent was placed in 52 (54 %) of patients. None of patients had ureteral dilatation. The single-session SFR was 67.4 % (56.3 and 89.2 % for flexible URS and semi-rigid URS respectively) and children require 1.4 procedures to achieve complete stone clearance. The overall complication rate was 18.7 %, most of them were minor (Clavien I-II). Intraoperative perirenal extravasation (Clavien IIIb) due to forniceal rupture was documented in 6.2 % of cases, related to an increased intrapelvic pressure (IPP) performed in a closed pelvicalyceal system. DISCUSSION: Pediatric urologists should be aware of forniceal rupture based on the presence of extravasation of contrast during endourological procedures especially when they have difficulties to reach lower caliceal stone in small patient. CONCLUSION: URS in patients aged of 5 years or less, is a complex minimally invasive procedure with reasonable efficacy and low morbidity. Intrarenal stones treated by RIRS in young children carries the risk of additional procedures to complete stone clearance.

Enfermedad neurológica asociada al gen KIF1A: correlación genotipo/fenotipo / KIF1A gene-associated neurological disease: the correlation between genotype and phenotype

Introducción: La encefalopatía KIF1A-associated-neurological-disorder (KAND) es un grupo de patologías neurodegenerativas progresivas de diversa gravedad ocasionadas por mutaciones en el gen KIF1A (kinesin family member 1A) situado en el cromosoma 2q37.3. Dicho gen codifica una proteína de la familia de las cinesinas 3 que participa en el transporte anterógrado de las vesículas presinápticas dependientes del trifosfato de adenosina a través de microtúbulos neuronales. Casos clínicos: Se describen cuatro pacientes, con edades entre 1 y 13 años, con mediana de inicio de los síntomas de cinco meses (rango intercuartílico: 0-11 meses), lo que supone una prevalencia aproximada de 1 de cada 64.000 menores de 14 años para nuestra población pediátrica. Clínicamente, destacaron discapacidad intelectual, hipotonía axial y paraparesia espástica en 4/4, y síntomas cerebelosos en 2/4. Otras manifestaciones fueron incontinencia urinaria, polineuropatía sensitivomotora y alteración conductual. Destaca, en el caso 2, la alteración en el videoelectroencefalograma, que mostraba epilepsia focal con generalización secundaria y focalidad paroxística occipitoparietal posterior derecha con transmisión contralateral. También mostraba crisis oculógiras en supraversión instantáneas pluricotidianas sin correlato electroencefalográfico. Conclusiones: En nuestra serie, la encefalopatía KAND, fenotipo trastorno neurodegenerativo con retraso global del desarrollo, de la marcha y espasticidad progresiva de los miembros inferiores, atrofia cerebelosa y/o afectación de la corteza visual, fue predominante, y en uno de los casos asoció polineuropatía sensitivomotora. La mutación de novo missense fue más frecuente y en tres casos es la primera descripción conocida. Un caso mostraba epilepsia focal y crisis oculógiras no epilépticas.(AU)

Introduction: KIF1A-associated-neurological-disorder (KAND) encephalopathy is a group of progressive neurodegenerative pathologies of varying severity caused by mutations in the KIF1A gene (Kinesin family member 1A) located on chromosome 2q37.3. This gene encodes a protein of the kinesin-3 family that participates in the ATP-dependent anterograde transport of presynaptic vesicles through neuronal microtubules. Case report: Four patients are described, aged 1-13 years, with a median onset of symptoms of 5 months (IQR 0-11 months), which represents an approximate prevalence of 1 per 64,000 children under 14 years of age for our pediatric population. Clinically, intellectual disability (ID), axial hypotonia and spastic paraparesis stood out in 4/4 and cerebellar symptoms in 2/4. Other manifestations were urinary incontinence, sensory-motor polyneuropathy, and behavioral alteration. In case 2, the alteration in the video-EEG stands out, which showed focal epilepsy with secondary generalization and right posterior occipito-parietal paroxysmal focality with contralateral transmission. She also showed instantaneous pluricotidian supraversion oculogyric seizures without EEG correlates. Conclusions: In our series, KAND encephalopathy had a predominant neurodegenerative disorder phenotype with global developmental delay, gait delay, and progressive spasticity of the lower limbs, cerebellar atrophy, and/or involvement of the visual cortex, which in one case was associated with sensory-motor polyneuropathy. The de novo missense mutation was more frequent and in three cases it is the first known description. One case showed focal epilepsy and nonepileptic oculogyric seizures.(AU)