Hyperbaric Medicine in Pediatrics — reality of a Portuguese reference center / Medicina Hiperbárica em Pediatria — realidade de um centro de referência português

ABSTRACT Objective: To identify and characterize the population of Pediatric patients referred to our hyperbaric oxygen therapy center. Methods: Retrospective and observational study, including pediatric patients treated with hyperbaric oxygen therapy, from 2006 to 2021, at the hyperbaric medicine reference center in the north of Portugal. Variables of interest were extracted from electronic medical records. Results: Our study included 134 patients. The most frequent reasons for referral were carbon monoxide poisoning (n=59) and sudden sensorineural hearing loss (n=41). In 75 cases (56%), treatment was initiated in an urgent context. Symptom presentation at Emergency Department varied among patients, the most frequent being headache and nausea/vomiting. Concerning carbon monoxide poisoning, the most common sources were water heater, fireplace/brazier, and boiler. Regarding adverse effects, it was identified one case of intoxication by oxygen and four cases of middle ear barotrauma. Conclusions: The most frequent cause for referral was carbon monoxide poisoning. All patients evolved favorably, with few side effects being reported, emphasizing the safety of this therapy. While most pediatricians may not be aware of the potential benefits arising with hyperbaric oxygen therapy, it is of upmost importance to promote them, so that this technique is increasingly implemented.

RESUMO Objetivo: Identificar e caracterizar a população de casos pediátricos encaminhados para o nosso centro de oxigenoterapia hiperbárica. Métodos: Estudo retrospetivo e observacional, que incluiu doentes pediátricos tratados com oxigenoterapia hiperbárica, de 2006 a 2021, no centro de referência de medicina hiperbárica do norte de Portugal. As variáveis de interesse foram extraídas dos processos clínicos eletrônicos. Resultados: O nosso estudo incluiu 134 casos. Os motivos de encaminhamento mais frequentes foram intoxicação por monóxido de carbono (n=59) e surdez súbita neurossensorial (n=41). Em 75 casos (56%) o tratamento foi iniciado em contexto de urgência. Os sintomas de apresentação à admissão variaram entre os diferentes casos, sendo os mais frequentes cefaleias e náuseas/vômitos. No que diz respeito à intoxicação por monóxido de carbono, as fontes mais comuns foram o aquecedor, lareira/braseiro e caldeira. Com relação aos efeitos adversos, foram identificados um caso de intoxicação por oxigênio e quatro casos de barotrauma do ouvido médio. Conclusões: A causa mais frequente de encaminhamento foi a intoxicação por monóxido de carbono. Todos os pacientes evoluíram favoravelmente e foram registrados poucos efeitos adversos, o que enfatiza a segurança desta terapia. Uma vez que a maioria dos pediatras pode não estar informada sobre os potenciais benefícios da oxigenoterapia hiperbárica, é de extrema importância promovê-los para que esta técnica seja cada vez mais implementada.

A Hybrid Control Framework for Chemical Processes with Long Time Delay: Theory and Experiments.

This paper proposes a hybrid control framework based on internal model concepts, sliding mode control methodology, and fractional-order calculus theory. As a result, a modified Smith predictor (SP) is proposed for nonlinear systems with significant delays. The particular predictive approach enhances the sliding mode control (SMC) controller's transient responses for dead-time processes, and the SMC gives the predictive structure robustness for model mismatches by combining the previous methods with fractional order concepts; the result is a dynamical sliding mode controller. A numerical example is considered to evaluate the performance of the proposed approach, where a step change, external disturbance, and parametric uncertainty test are performed. A real application in the TCLab Arduino kit is presented; the proposed method presented good performance with a little amount of chattering, and in the disturbance rejection case, the overshoot increased with an aggressive response; in both cases, better tuning parameters can improve the process response and the controller action.

Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.

The purpose of this study was to analyze and molecularly describe the largest group of patients with ABCA4-associated retinal degeneration in Latin America. Pathogenic variants in ABCA4, a member of the ATP Binding Cassette (ABC) transporters superfamily, is one of the most common causes of inherited visual deficiency in humans. Retinal phenotypes associated with genetic defects in ABCA4 are collectively known as ABCA4-associated retinal degenerations (ABCA4R), a group of recessively inherited disorders associated with a high allelic heterogeneity. While large groups of Caucasian and Asiatic individuals suffering from ABCA4R have been well characterized, molecular information from certain ethnic groups is limited or unavailable, precluding a more realistic knowledge of ABCA4-related mutational profile worldwide. In this study, we describe the molecular findings of a large group of 211 ABCA4R index cases from Mexico. Genotyping was performed using either next generation sequencing (NGS) of a retinal dystrophy genes panel or exome. ABCA4 targeted mutation testing was applied to a subgroup of subjects in whom founder mutations were suspected. A total of 128 different ABCA4 pathogenic variants were identified, including 22 previously unpublished variants. The most common type of genetic variation was single nucleotide substitutions which occurred in 92.7% (408/440 alleles). According to the predicted protein effect, the most frequent variant type was missense, occurring in 83.5% of disease-causing alleles (368/440). Mutations such as p.Ala1773Val are fully demonstrated as a founder effect in native inhabitants of certain regions of Mexico. This study also gives us certain indications of other founder effects that need to be further studied in the near future. This is the largest molecularly characterized ABCA4R Latin American cohort, and our results supports the value of conducting genetic screening in underrepresented populations for a better knowledge of the mutational profile leading to monogenic diseases.

Hyperbaric Medicine in Pediatrics - reality of a Portuguese reference center.

OBJECTIVE: To identify and characterize the population of Pediatric patients referred to our hyperbaric oxygen therapy center. METHODS: Retrospective and observational study, including pediatric patients treated with hyperbaric oxygen therapy, from 2006 to 2021, at the hyperbaric medicine reference center in the north of Portugal. Variables of interest were extracted from electronic medical records. RESULTS: Our study included 134 patients. The most frequent reasons for referral were carbon monoxide poisoning (n=59) and sudden sensorineural hearing loss (n=41). In 75 cases (56%), treatment was initiated in an urgent context. Symptom presentation at Emergency Department varied among patients, the most frequent being headache and nausea/vomiting. Concerning carbon monoxide poisoning, the most common sources were water heater, fireplace/brazier, and boiler. Regarding adverse effects, it was identified one case of intoxication by oxygen and four cases of middle ear barotrauma. CONCLUSIONS: The most frequent cause for referral was carbon monoxide poisoning. All patients evolved favorably, with few side effects being reported, emphasizing the safety of this therapy. While most pediatricians may not be aware of the potential benefits arising with hyperbaric oxygen therapy, it is of upmost importance to promote them, so that this technique is increasingly implemented.

Familial fleck corneal dystrophy caused by complete deletion of the PIKFYVE gene.

BACKGROUND: Fleck corneal dystrophy (FCD) is a rare autosomal dominant disease that affects exclusively the corneal stroma. The disease is caused by heterozygous variants in PIKFYVE, a gene encoding a lipid kinase involved in multiple cellular pathways, primarily participating in membrane dynamics and signaling. This report describes a familial case of FCD caused by a complete deletion of the PIKFYVE gene. MATERIAL AND METHODS: A clinical ophthalmic examination was performed on the proband and family members. Genetic testing included next-generation sequencing (multigene panel), and chromosomal microarray analysis. A quantitative PCR assay was designed in order to segregate the deletion. RESULTS: A 19-year-old male, with no family or personal history of ocular disease, presented for evaluation due to an acute illness consisting of burning, foreign body sensation, and red eye. Slit lamp biomicroscopy revealed bilateral small pterygia and scattered bilateral white opacities in the corneal stroma, a very similar corneal phenotype was found in the 47-year-old father, who was asymptomatic. NGS detected a heterozygous deletion of the entire PIKFYVE coding sequence. CMA in DNA from the propositus indicated a 543 kb deletion in 2q33.3q34 spanning the entire PIKFYVE gene. The deletion was confirmed in the father. CONCLUSIONS: We add to the molecular spectrum of FCD by describing a familial case of a whole PIKFYVE gene deletion in affected subjects. Our findings support that normal expression of PIKFYVE is necessary for corneal keratocytes homeostasis and normal corneal appearance. We conclude that PIKFYVE haploinsufficiency is the molecular mechanism underlying this familial case of FCD.

TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.

Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes.

Background: Diabetic retinopathy (DR) risk has been shown to vary depending on ethnic backgrounds, and thus, it is worthy that underrepresented populations are analyzed for the potential identification of DR-associated genetic variants. We conducted a case-control study for the identification of DR-risk variants in Mexican population. Methods: We ascertained 60 type 2 diabetes mellitus (T2DM) patients. Cases (n = 30) were patients with advanced proliferative DR (PDR) with less than 15 years after a T2DM diagnosis while controls (n = 30) were patients with no DR 15 years after the diagnosis of T2DM. Exome sequencing was performed in all patients, and the frequency of rare variants was compared. In addition, the frequency of variants occurring in a set of 169 DR-associated genes were compared. Results: Statistically significant differences were identified for rare missense and splice variants and for rare splice variants occurring more than once in either group. A strong statistical difference was observed when the number of rare missense variants with an aggregated prediction of pathogenicity and occurring more than once in either group was compared (p = 0.0035). Moreover, 8 variants identified more than once in either group, occurring in previously identified DR-associated genes were recognized. The p.Pro234Ser KIR2DS4 variant showed a strong protective effect (OR = 0.04 [0.001-0.36]; p = 0.04). Conclusions: Our study showed an enrichment of rare splice acceptor/donor variants in patients with PDR and identified a potential protective variant in KIR2DS4. Although statistical significance was not reached, our results support the replication of 8 previously identified DR-associated genes.

Learning from history in the midst of the COVID-19: epidemics/pandemics of antiquity up to the fall of the Western Roman Empire.

When humans discovered agriculture and livestock, they ceased to be nomads and began to settle in towns until they created large cities. From the first human settlements in Egypt, Mesopotamia, and the Anatolian Peninsula, populations were exposed and susceptible to new infectious agents, leading to epidemics and pandemics. Great civilizations emerged, such as Egypt, the land of Hatti, Israel, Greece, Carthage, and Rome, among others. Contact between different populations through wars or maritime trade is well documented and has been described as a source of epidemics throughout history. Epidemics described as plagues or pestilences, such as those of Egypt, the Hebrews, or the Hittites, are based on biblical texts or evidence such as tablets or hieroglyphic writings. We also reviewed classical books by authors such as Homer, Aeschylus, Herodotus of Halicarnassus, Thucydides, Diodorus Siculus, Dionysius of Halicarnassus, Titus Livius, Suetonius, and others; and described all epidemics/pandemics chronologically. This article describes the epidemics/pandemics for which there is written evidence from ancient Egypt to the fall of the Roman Empire. We should not be surprised when new epidemics/pandemics appear as causes of political and economic collapse, as this has been common throughout history, decimating, blocking, or even destroying cultures and civilizations repeatedly.

Cuando el hombre descubrió la agricultura y la ganadería, dejó de ser nómada y empezó a asentarse en pueblos hasta crear grandes ciudades. Desde los primeros asentamientos humanos en Egipto, Mesopotamia y la península de Anatolia, las poblaciones estuvieron expuestas y susceptibles a nuevos agentes infecciosos, dando lugar a epidemias y pandemias. Aparecieron grandes civilizaciones como Egipto, la Tierra de Hatti, Israel, Grecia, Cartago y Roma, entre otras. El contacto entre las distintas poblaciones a través de las guerras o el comercio marítimo está muy bien establecido y descrito como focos de epidemias a lo largo de la historia. Las epidemias descritas como plagas o pestilencias, como las que ocurrieron a los egipcios, los judíos, o los hititas, se describen con base en textos bíblicos o mediante evidencias como tablillas o escritos jeroglíficos. También revisamos libros clásicos de autores como Homero, Esquilo, Herodoto de Halicarnaso, Tucídides, Diodoro Sículo, Dionisio de Halicarnaso, Tito Livio, Suetonio, entre otros. Este artículo describe cronológicamente todas las epidemias/pandemias de las que existe evidencia a través de la escritura desde el antiguo Egipto hasta la caída del Imperio Romano. No debemos sorprendernos cuando aparecen nuevas epidemias/pandemias como causantes del colapso político y económico, ya que ha sido algo común a lo largo de la historia, diezmando, bloqueando o incluso destruyendo culturas y civilizaciones reiteradamente.

Learning from history in the midst of the COVID-19: epidemics/pandemics of antiquity up to the fall of the Western Roman Empire / Aprendiendo de la historia en medio del COVID-19: epidemias/pandemias de la antigüedad hasta la caída del Imperio Romano de Occidente

Abstract When humans discovered agriculture and livestock, they ceased to be nomads and began to settle in towns until they created large cities. From the first human settlements in Egypt, Mesopotamia, and the Anatolian Peninsula, populations were exposed and susceptible to new infectious agents, leading to epidemics and pandemics. Great civilizations emerged, such as Egypt, the land of Hatti, Israel, Greece, Carthage, and Rome, among others. Contact between different populations through wars or maritime trade is well documented and has been described as a source of epidemics throughout history. Epidemics described as plagues or pestilences, such as those of Egypt, the Hebrews, or the Hittites, are based on biblical texts or evidence such as tablets or hieroglyphic writings. We also reviewed classical books by authors such as Homer, Aeschylus, Herodotus of Halicarnassus, Thucydides, Diodorus Siculus, Dionysius of Halicarnassus, Titus Livius, Suetonius, and others; and described all epidemics/pandemics chronologically. This article describes the epidemics/pandemics for which there is written evidence from ancient Egypt to the fall of the Roman Empire. We should not be surprised when new epidemics/pandemics appear as causes of political and economic collapse, as this has been common throughout history, decimating, blocking, or even destroying cultures and civilizations repeatedly.

Resumen Cuando el hombre descubrió la agricultura y la ganadería, dejó de ser nómada y empezó a asentarse en pueblos hasta crear grandes ciudades. Desde los primeros asentamientos humanos en Egipto, Mesopotamia y la península de Anatolia, las poblaciones estuvieron expuestas y susceptibles a nuevos agentes infecciosos, dando lugar a epidemias y pandemias. Aparecieron grandes civilizaciones como Egipto, la Tierra de Hatti, Israel, Grecia, Cartago y Roma, entre otras. El contacto entre las distintas poblaciones a través de las guerras o el comercio marítimo está muy bien establecido y descrito como focos de epidemias a lo largo de la historia. Las epidemias descritas como plagas o pestilencias, como las que ocurrieron a los egipcios, los judíos, o los hititas, se describen con base en textos bíblicos o mediante evidencias como tablillas o escritos jeroglíficos. También revisamos libros clásicos de autores como Homero, Esquilo, Herodoto de Halicarnaso, Tucídides, Diodoro Sículo, Dionisio de Halicarnaso, Tito Livio, Suetonio, entre otros. Este artículo describe cronológicamente todas las epidemias/pandemias de las que existe evidencia a través de la escritura desde el antiguo Egipto hasta la caída del Imperio Romano. No debemos sorprendernos cuando aparecen nuevas epidemias/pandemias como causantes del colapso político y económico, ya que ha sido algo común a lo largo de la historia, diezmando, bloqueando o incluso destruyendo culturas y civilizaciones reiteradamente.

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.

PURPOSE: To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. METHODS: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico. RESULTS: Nine patients with LI in five families were identified. There were six affected females. All patients (9/9) demonstrated eye lid abnormalities with eight patients showing lid margin abnormalities. Madarosis was present in only three individuals and corneal scarring was documented in two. All nine individuals carried biallelic TGM1 variants, either homozygously or as compound heterozygous. CONCLUSION: Ocular anomalies are common in individuals with TGM1-related LI. The occurrence of a variety of private or rare mutations hampers the identification of a genotype-phenotype correlation for ocular anomalies in this disorder.

Hybrid Controller Based on Numerical Methods for Chemical Processes with a Long Time Delay.

A hybrid control framework is proposed as an alternative for long time delays in chemical processes. The hybrid approach mixes the numerical methods in an internal mode control (IMC) structure, which uses the particle swarm optimization (PSO) algorithm to improve the adjustment of the controller parameters. Simulation tests are carried out on linear systems of high order and inverse response, both with dominant delay, and tests on a nonlinear process (chemical reactor). The performance of the proposed controller is stable and satisfactory despite nonlinearities in various operating conditions, set-point changes, process disturbances, and modeling errors. In addition, experimental tests were performed on a setup composed of two heaters and two temperature sensors mounted on an Arduino microcontroller-based board called the Temperature Control Laboratory (TCLab), with an additional software delay introduced. The merits and drawbacks of each scheme are analyzed using radar charts, comparing the control methods with different performance measures for set-point and disturbance changes. Furthermore, the new controller uses PSO to improve the tuning parameters.

USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.

Background: Mutations in the USH2A gene are the leading cause of both non-syndromic autosomal recessive retinitis pigmentosa (RP) and Usher syndrome, a syndromic form of RP characterized by retinal dystrophy and sensorineural hearing loss. To contribute to the expansion of the USH2A-related molecular spectrum, the results of genetic screening in a large cohort of Mexican patients are presented. Methods: The study population comprised 61 patients with a clinical diagnosis of either non-syndromic RP (n = 30) or Usher syndrome type 2 (USH2; n = 31) who were demonstrated to carry biallelic pathogenic variants in USH2A in a three-year period. Genetic screening was performed either by gene panel sequencing or by exome sequencing. A total of 72 available first- or second-degree relatives were also genotyped for familial segregation of the identified variants. Results: The USH2A mutational spectrum in RP patients included 39 distinct pathogenic variants, most of them of the missense type. The most common RP-causing variants were p.Cys759Phe (c.2276G>T), p.Glu767Serfs*21 (c.2299delG), and p.Cys319Tyr (c.956G>A), which together accounted for 25% of all RP variants. Novel USH2A mutations included three nonsense, two missense, two frameshift, and one intragenic deletion. The USH2A mutational spectrum in USH2 patients included 26 distinct pathogenic variants, most of them of the nonsense and frameshift types. The most common Usher syndrome-causing variants were p.Glu767Serfs*21 (c.2299delG), p.Arg334Trp (c.1000C>T), and c.12067-2A>G), which together accounted for 42% of all USH2-related variants. Novel Usher syndrome USH2A mutations included six nonsense, four frameshift, and two missense mutations. The c.2299delG mutation was associated with a common haplotype for SNPs located in exons 2-21 of USH2A, indicating a founder mutation effect. Conclusions: Our work expands the USH2A mutational profile by identifying 20 novel pathogenic variants causing syndromic and non-syndromic retinal dystrophy. The prevalent c.2299delG allele is shown to arise from a founder effect. Our results emphasize the usefulness of molecular screening in underrepresented populations for a better characterization of the molecular spectrum of common monogenic diseases.

A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.

AIM: To describe a family segregating a novel truncating ZNF469 homozygous mutation causing brittle cornea syndrome type 1 in a male patient and associated with corneal ectasia in his two heterozygous young children. METHODS: A 49-year-old affected male and his 12- and 8-year-old, apparently healthy, siblings underwent phenotypic and genetic assessment. An Oculus Pentacam Scheimpflug topographer system was employed for keratometries and central corneal thickness measurements. Exome sequencing was performed in DNA from the index case with subsequent Sanger sequencing confirmation of the ZNF469 gene causal variant in his relatives. RESULTS: The index case had a history of bilateral keratoglobus, corneal perforations, bilateral hypoacusia, and skeletal anomalies. His two children exhibited topographic anomalies compatible with keratoconus suspects as well as mild skeletal anomalies. Genetic analysis identified a novel homozygous c.2340delC variant in the ZNF469 gene, which predicts a p.(Arg781Glufs*19) truncated protein. Sanger sequencing identified heterozygosity for the c.2340delC variant in DNA from both siblings. CONCLUSION: Our results expand the mutational spectrum associated with brittle cornea syndrome and provide the first demonstration of early corneal anomalies in subjects carrying monoallelic ZNF469 variants.

Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.

PURPOSE: To describe the results of clinical and molecular analyses in a group of patients suffering from inherited macular dystrophies, in which next-generation sequencing (NGS) efficiently detected rare causative mutations. METHODS: A total of eight unrelated Mexican subjects with a clinical and multimodal imaging diagnosis of macular dystrophy were included. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field tests, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed by means of whole exome sequencing with subsequent Sanger sequencing validation of causal variants. RESULTS: All patients exhibited a predominantly macular or cone-dominant disease. Patients' ages ranged from 12 to 60 years. Three cases had mutations in genes associated with autosomal dominant inheritance (UNC119 and PRPH2) while the remaining five cases had mutations in genes associated with autosomal recessive inheritance (CNGA3, POC1B, BEST1, CYP2U1, and PROM1). Of the total of 11 different pathogenic alleles identified, three were previously unreported disease-causing variants. CONCLUSIONS: Macular dystrophies can be caused by defects in genes that are not routinely analyzed or not included in NGS gene panels. In this group of patients, whole exome sequencing efficiently detected rare genetic causes of hereditary maculopathies, and our findings contribute to expanding the current knowledge of the clinical and mutational spectrum associated with these disorders.

Hybrid Approaches-Based Sliding-Mode Control for pH Process Control.

This paper presents two hybrid control topologies; the topologies are designed by combining artificial intelligence approaches and sliding-mode control methodology. The first topology mixes the learning algorithm for multivariable data analysis (LAMDA) approach with sliding-mode control. The second offers a Takagi-Sugeno multimodel approach, internal model, and sliding-mode control. The process under study is a nonlinear pH neutralization process with high nonlinearities and time-varying parameters. The pH process is simulated for multiple reference changes, disturbance rejection, and noise in the transmitter. Performance indices are used to compare the proposed approaches quantitatively. The hybrid control topologies enhance the performance and robustness of the pH process under study.

Spatial analysis methodology of resistance to penetration and infiltration in a soil cultivated with a bushy fruit (Acca sellowiana)

The sustainable management of water and soil resources for agricultural purposes is related to the ability to store and mobilize available water for crops, particularly under a spatial analysis. The objective of the study was to design and evaluate a methodology for spatial analysis of resistance to soil penetration and infiltration on loamy-clay textures. The basic methodological principles included sampling grid planning, data capture at defined points, data fitting to empirical models, data processing, and spatial representation. A defining moment was evaluated for an established feijoa crop with permanent production. With a georeferenced rectangular sampling grid of 40m x 40m, an area of 1.36 ha was covered. Penetration resistance was measured with a penetrometer, covering 4 depths per node (sampled point). Infiltration was evaluated with ring infiltrometers. The results allowed validation of the methodology implemented through a single processing environment through RStudio. Resistance to penetration sensitively affected the variation in infiltration rates, adjusting planning activities for irrigation activities. The methodological proposal was designed to reduce processing times and graphic responses, tabulated, and integrated with a single script in the R tool, compared to traditional geostatistical techniques, which articulate the implementation of multiple tools for the generation of results.

La gestión sostenible de los recursos agua y suelo, con fines agrícolas, tiene relación con la capacidad para almacenar y movilizar agua disponible para los cultivos, particularmente, bajo un análisis espacial. El objetivo del estudio fue diseñar y evaluar una metodología de análisis espacial de la resistencia a la penetración e infiltración del suelo sobre texturas franco-arcillosas. Los principios básicos metodológicos incluyeron planificación de grilla de muestreo, captura de datos en puntos definidos, ajuste de datos a modelos empíricos, procesamiento y representación espacial de datos. Se evaluó un momento definido para un cultivo de feijoa establecido con producción permanente. Con una grilla de muestreo rectangular georreferenciada de 40m x 40m, se abarcó una superficie de 1,36 ha. La resistencia a penetración, se midió con un penetrómetro, cubriendo 4 profundidades por nodo (punto muestreado). La infiltración fue evaluada con anillos infiltrómetros. Los resultados permitieron validar la metodología implementada, mediante un entorno de procesamiento único, a través de RStudio. La resistencia a la penetración afectó sensiblemente la variación en las tasas de infiltración, ajustando actividades de planeación de actividades de riego. La propuesta metodológica fue diseñada para disminuir tiempos de procesamiento y respuestas gráficas, tabuladas e integradas en un único script en la herramienta R, comparado con técnicas tradicionales geoestadísticas, que articulan la implementación de múltiples herramientas para la generación de resultados.

The role of hyperbaric oxygen therapy in the treatment of radiation lesions.

INTRODUCTION: Cancer remains one of the leading causes of death worldwide, with 50-60% of patients requiring radiotherapy during the course of treatment. Patients' survival rate has increased significantly, with an inevitable increase in the number of patients experiencing side effects from cancer therapy. One such effect is late radiation injuries in which hyperbaric oxygen therapy appears as complementary treatment. With this work we intend to divulge the results of applying hyperbaric oxygen therapy among patients presenting radiation lesions in our Hyperbaric Medicine Unit. MATERIALS AND METHODS: Retrospective analysis of clinical records of patients with radiation lesions treated at the Hyperbaric Medicine Unit assessed by the scale Late Effects of Normal Tissues-Subjective, Objective, Management, Analytical (LENT-SOMA) before and after treatment, between October 2014 and September 2019 were included. Demographic characteristics, primary tumor site, subjective assessment of the LENT-SOMA scale before and after treatment were collected and a comparative analysis (Students t test) was done. RESULTS: 88 patients included: 33 with radiation cystitis, 20 with radiation proctitis, 13 with osteoradionecrosis of the mandible and 22 with radiation enteritis. In all groups, there was a significant decrease (p < 0.005) in the subjective parameter of the LENT-SOMA scale. DISCUSSION: Late radiation lesions have a major influence on patients' quality of life. In our study hyperbaric oxygen therapy presents as an effective therapy after the failure of conventional treatments. CONCLUSION: Hyperbaric oxygen therapy is an effective complementary therapy in the treatment of refractory radiation lesions.

AUTOSOMAL DOMINANT MÜLLER CELL SHEEN DYSTROPHY: Clinical, Histopathologic, and Genetic Assessment in an Extended Family With Long Follow-Up.

BACKGROUND: Autosomal dominant Müller cell dystrophy is a rare condition we described in 1991. It is characterized by a striking sheen appearance on the retinal surface with progressive retinal changes leading to disorganization and atrophy with a decreased b-wave electroretinograms. MATERIALS AND METHODS: We examined 45 members of a 4-generation family. Fifteen subjects from three generations were found with the disease, without gender predilection. Seven patients underwent ophthalmic examination including fundus examination, intravenous fluorescein angiogram, spectral-domain optical coherence tomography, and electroretinogram. Six patients have a 30-year follow-up. Histopathology examination was performed on eyes of the eldest patient. Whole exome sequencing was done in four affected subjects. RESULTS: Findings include a decreased visual acuity, abnormal cellophane-like sheen of the vitreoretinal interface, a "plush" nerve fiber layer, and characteristic macular changes. Electroretinogram showed a selective b-wave diminution. Intravenous fluorescein angiogram presented perifoveal hyperfluorescence and capillary leakage. Spectral-domain optical coherence tomography revealed cavitations involving inner and later outer retinal layers with later disorganization. Histopathologic findings included Müller cell abnormalities with cystic disruption of inner retinal layers, pseudoexfoliation in anterior segment, and amyloidosis of extraocular vessels. Pedigree analysis suggests an autosomal dominant inheritance with late onset. DNA analysis demonstrated a previously undescribed heterozygous missense p.Glu109Val mutation in transthyretin. CONCLUSION: To the best of our knowledge, this is the first family reported with this disorder. Our data support the hypothesis that autosomal dominant Müller cell dystrophy is a distinct retinal dystrophy affecting Müller cells. Mutations in transthyretin gene may manifest as a predominantly retinal disorder.

Familial Hypercholesterolemia: Update and Review.

Knowledge of epidemiology, genetic etiopathogenesis, diagnostic criteria, and management of familial hypercholesterolemia have increased in the last two decades. Several population studies have shown that familial hypercholesterolemia is more frequent than previously thought, making this entity the most common metabolic disease with monogenic inheritance in the world. Identification of causal heterozygous pathogenic variants in LDLR, APOB, and PCSK9 genes has increased diagnostic accuracy of classical criteria (extreme hypercholesterolemia, personal / family history of premature coronary artery disease or other cardiovascular diseases). Genetic screening has been recently introduced in many European countries to detect patients with familial hypercholesterolemia, mainly affected pediatric subjects, asymptomatic or those at the beggining of their disease, to increase surveillance and avoid complications such as cardiovascular diseases. Cholesterol- lowering drugs should be started as soon as the diagnosis is made. Various combinations between drugs can be used when the goal is not achieved. New therapies, including small interference ribonucleic acids (siRNA) are being tested in different clinical trials.

Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females.

PURPOSE: X-linked megalocornea (XMC) is a rare anterior segment malformation characterized by a nonprogressive enlargement of the cornea to 13 mm or greater in the setting of normal intraocular pressure. XMC is caused by mutations in the CHRDL1 gene and it is inherited as an X-linked recessive trait affecting only males. Here, we describe the results of phenotypic and genetic assessment in a novel XMC pedigree. METHODS: Three subjects (a father and his two daughters) underwent a complete clinical and imaging ocular examination including biomicroscopy, fundoscopy, tonometry, visual acuity, Pentacam Scheimpflug imaging, anterior segment Swept Source OCT, and ultrabiomicroscopy. Genetic analysis was performed through whole exome sequencing in 3 family members. Candidate variants were validated by sanger sequencing. RESULTS: The affected father exhibited megalocornea, very deep anterior chambers, retrocorneal pigmentation, iris atrophy, queer iris configuration, extremely open iridocorneal angles, and cataracts. Notably, both daughters showed queer iris configuration and abnormally widely open iridocorneal angles in both eyes. Genetic analysis identified a novel hemizygous c.207+1G>A splicing variant in CHRDL1 in the affected father. Both mildly affected daughters were heterozygous for the pathogenic variant. CONCLUSIONS: Here, we report an additional XMC family due to a novel mutation in the CHRDL1 gene. Mild anterior segment anomalies were observed in two heterozygous carriers demonstrating for the first time a CHRDL1-linked phenotype in females. A detailed comparison of the clinical and genetic features of this pedigree with those observed in previously published XMC cases is also presented.