Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 43
Filter
1.
Am J Med Genet A ; : e63869, 2024 Sep 12.
Article in English | MEDLINE | ID: mdl-39264138

ABSTRACT

Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF-containing fibulin-like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult-onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non-p.Arg345Trp EFEMP1 pathogenic allele.

2.
Ophthalmic Genet ; 45(5): 532-536, 2024 Oct.
Article in English | MEDLINE | ID: mdl-38956867

ABSTRACT

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.


Subject(s)
Corneal Dystrophies, Hereditary , Pedigree , Phosphatidylinositol 3-Kinases , Humans , Male , Young Adult , Corneal Dystrophies, Hereditary/genetics , Corneal Dystrophies, Hereditary/diagnosis , Phosphatidylinositol 3-Kinases/genetics , Middle Aged , Gene Deletion , Female , Adult , Sequence Deletion , High-Throughput Nucleotide Sequencing
3.
J Ophthalmol ; 2024: 4003914, 2024.
Article in English | MEDLINE | ID: mdl-38468717

ABSTRACT

Purpose: The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods: The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in PCARE. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field test, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed either by gene panel sequencing or by exome sequencing. Results: According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. Six different PCARE pathogenic alleles were identified in our cohort, including three novel mutations: c.3048_3049del (p.Tyr1016∗), c.3314_3315del (p.Ser1105∗), and c.551A > G (p.His184Arg). Notably, alleles p.His184Arg, p.Arg613∗, and p.Arg984∗ were present in 18 of the 22 (82%) PCARE alleles from probands in our cohort. Conclusion: Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals.

4.
Bol Med Hosp Infant Mex ; 80(5): 269-278, 2023.
Article in English | MEDLINE | ID: mdl-37963299

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.


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.


Subject(s)
COVID-19 , Plague , Humans , Pandemics , Roman World , COVID-19/epidemiology , Plague/epidemiology
5.
Bol. méd. Hosp. Infant. Méx ; 80(5): 269-278, Sep.-Oct. 2023.
Article in English | LILACS-Express | LILACS | ID: biblio-1527951

ABSTRACT

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.

6.
Agora USB ; 23(1)jun. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1533559

ABSTRACT

Los grupos que se han visto más impactado por la pandemia por COVID-19, en las instituciones de Educación Superior, fueron los estudiantes. Por tal motivo, se realizó un estudio con enfoque cualitativo en la Universidad Veracruzana, México, con la finalidad de conocer sus experiencias personales, tecnológicas y escolares durante la pandemia, así como sus expectativas post/pandemia. Los resultados invitan a reflexionar sobre diversas estrategias para el diseño de políticas educativas orientadas a apoyar la formación de los estudiantes universitarios. El presente trabajo de investigación se reconoce que las condiciones estructurales de la desigualdad social y brecha digital de los universitarios no son las más óptimas para su formación universitaria en modalidad presencial, virtual o hibrida, en este sentido, es posible detectar ciertas dificultades estructurantes en el ámbito escolar de los jóvenes universitarios y la falta de crear y constituir una universidad hibrida en las instituciones de educación superior.


The groups that have been most impacted by the COVID-19 pandemic, in Higher Education institutions, were the students. For this reason, a qualitative study was conducted at the Universidad Veracruzana, Mexico, in order to learn about their personal, technological, and school experiences during the pandemic, as well as their post-pandemic expectations. The results invite to reflect on different strategies for the design of educational policies geared to support the education of university students.

7.
Rev. chil. nutr ; 50(2)abr. 2023.
Article in English | LILACS-Express | LILACS | ID: biblio-1515168

ABSTRACT

Extra virgin olive oil (EVOO) is known for its health benefits, although it provides a minimum amount of n-3 polyunsaturated fatty acids (n-3 PUFA), which play an important role in the human organism. In this study, EVOO was blended with vegetable oils which are rich sources of n-3 PUFA alpha-linolenic acid (ALA) and/or stearidonic acid (SDA) (chia, walnut, linseed and viper's bugloss seed oils). Fatty acid profiles, induction time, and organoleptic characteristics of the resulting blends were assessed. The n-3 PUFA enrichment in the blends was proportional to the degree of blending. Sensory analysis carried out by a trained panel showed that it is possible to enrich EVOO with up to 20% chia, linseed and viper's bugloss seed oil without altering the original organoleptic characteristics of EVOO. However, the induction time of the blends was significantly reduced compared with EVOO even after adding n-3 PUFA in small proportions, meaning that shelf-life time of these blends is much lower than that of EVOO, which should be considered when preparing these products for commercial purposes.


El aceite de oliva extra virgen (AOEV) es ampliamente conocido por sus beneficios para la salud, aunque apenas aporta ácidos grasos poliinsaturados n-3 (AGPI n-3), los cuales juegan un papel importante en el organismo humano. En este estudio se elaboraron mezclas de AOEV con aceites vegetales ricos en ácido alfa-linolénico (ALA) y/o estearidónico (SDA) (chia, nuez, linaza y viborera). Se evaluaron los perfiles de ácidos grasos, tiempos de inducción y características organolépticas de las mezclas resultantes. El enriquecimiento en AGPI n-3 fue proporcional al grado de mezcla. El análisis sensorial llevado a cabo por un panel entrenado mostró que es posible enriquecer AOEV con hasta un 20% de aceite de chia, linaza o viborera sin alterar las características organolépticas originales del AOEV. Sin embargo, los tiempos de inducción de las mezclas fueron significativamente menores que el del AOEV, incluso tras añadir AGPI n-3 en pequeñas proporciones, lo que significa que el tiempo de vida media de las mezclas es mucho menor que el del AOEV. Este hecho debería tenerse en cuenta al preparar las mezclas con propósitos comerciales.

8.
Graefes Arch Clin Exp Ophthalmol ; 261(2): 353-365, 2023 Feb.
Article in English | MEDLINE | ID: mdl-35947183

ABSTRACT

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.


Subject(s)
Macular Degeneration , Retinal Dystrophies , Humans , Child , Adolescent , Young Adult , Adult , Middle Aged , Mutation , Macular Degeneration/diagnosis , Macular Degeneration/genetics , Retinal Dystrophies/diagnosis , Retinal Dystrophies/genetics , Electroretinography , Visual Field Tests , Tomography, Optical Coherence/methods , Pedigree , Phenotype , Adaptor Proteins, Signal Transducing , Bestrophins , Cytochrome P450 Family 2
9.
Int Ophthalmol ; 43(3): 807-815, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36048286

ABSTRACT

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.


Subject(s)
Eye Abnormalities , Keratoconus , Skin Abnormalities , Child , Child, Preschool , Humans , Male , Middle Aged , Cornea , Corneal Topography , Dilatation, Pathologic , Eye Abnormalities/diagnosis , Eye Abnormalities/genetics , Keratoconus/genetics , Skin Abnormalities/diagnosis , Skin Abnormalities/genetics , Transcription Factors/genetics , Heterozygote
10.
Medicina (B.Aires) ; Medicina (B.Aires);82(1): 47-54, feb. 2022. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1365127

ABSTRACT

Resumen El uso de terapia nasal de alto flujo (TNAFO) en pacientes con insuficiencia respiratoria aguda grave (IRAG) por neumonía COVID-19 (NCOVID-19) es debatido. Ante la falta de camas en Unidades de Cuidados Intensivos en el Sistema de Salud Pública de la Provincia del Neuquén, se implementó su uso en salas generales. Con el objetivo de describir la experiencia de uso de la TNAFO en pacientes con IRAG por NCOVID-19, se llevó a cabo este estudio retrospectivo multicéntrico. El resultado primario fue la frecuencia de destete exitoso de TNAFO y la mortalidad intrahospitalaria (MIH). Se analizaron 299 pacientes, de éstos, 120 (40.1%) fueron retirados con éxito de la TNAFO. Esta fracasó en 59.8% (179), 44.1% (132) requirió ventilación mecánica invasiva (VMI) y 15.7% (47) no eran candidatos a la intubación. Un índice ROX ≥ 5 a las 6 h después del inicio, se asoció con el éxito de la TNAFO (OR 0.26 [IC 95% 0.15-0.46] p<0.0001). La MIH general fue del 48.5% (145/299), 70.4% (93/132) en aquellos con VMI, 4.2% (5/120) falleció post destete exitoso de la TNAFO y 100% (47/47) en el grupo no candidatos a la intubación. Los pacientes con TNAFO tuvieron una disminución estadísticamente significativa en la MIH y en días de internación. El uso de TNAFO en salas generales logró una reducción en la utilización de VMI, con una reducción de la mortalidad y días de estada en los internados por NCOVID-19 con IRAG.


Abstract The use of high-flow nasal therapy (HFNT) in patients with severe acute respiratory failure (SARF) due to COVID-19 pneu monia (NCOVID-19) is debated. Given the lack of beds in Intensive Care Units in the Public Health System of the Province of Neuquén, their use was implemented in general wards. This restrospective multicenter study was carried out to describe the experience of using HNFT in patients with SARF due to NCOVID-19. The primary outcome was the frequency of successful weaning from HFNT and in-hospital mortality (IHM). Two hundred ninety-nine patients were analyzed; 120 (40.1%) were successfully withdrawn from HFNT. This failed in 59.8% (179), 44.1% (132) required invasive mechanical ventilation (IMV), and 15.7% (47) was not candidates for intubation. A ROX index ≥ 5 at 6 h after initiation was associated with the success of HFNT (OR 0.26 [IC 95% 0.15-0.46] p<0.0001). The general IHM was 48.5% (145/299), 70.4% (93/132) in patients with IMV, 4.2% (5/120) died after successful weaning from HFNT and 100% (47/47) in the group not candidates for intubation. Patients with TNAFO had a statistically significant decrease in MIH and days of hospitalization. TNAFO in general wards achieved a decrease in the use of IMV, with a reduction in mortality and days of stay in hospitalized for NCOVID-19 with SARF.

11.
Medicina (B Aires) ; 82(1): 47-54, 2022.
Article in Spanish | MEDLINE | ID: mdl-35037860

ABSTRACT

The use of high-flow nasal therapy (HFNT) in patients with severe acute respiratory failure (SARF) due to COVID-19 pneumonia (NCOVID-19) is debated. Given the lack of beds in Intensive Care Units in the Public Health System of the Province of Neuquén, their use was implemented in general wards. This restrospective multicenter study was carried out to describe the experience of using HNFT in patients with SARF due to NCOVID-19. The primary outcome was the frequency of successful weaning from HFNT and in-hospital mortality (IHM). Two hundred ninety-nine patients were analyzed; 120 (40.1%) were successfully withdrawn from HFNT. This failed in 59.8% (179), 44.1% (132) required invasive mechanical ventilation (IMV), and 15.7% (47) was not candidates for intubation. A ROX index = 5 at 6 h after initiation was associated with the success of HFNT (OR 0.26 [IC 95% 0.15-0.46] p < 0.0001). The general IHM was 48.5% (145/299), 70.4% (93/132) in patients with IMV, 4.2% (5/120) died after successful weaning from HFNT and 100% (47/47) in the group not candidates for intubation. Patients with TNAFO had a statistically significant decrease in MIH and days of hospitalization. TNAFO in general wards achieved a decrease in the use of IMV, with a reduction in mortality and days of stay in hospitalized for NCOVID-19 with SARF.


El uso de terapia nasal de alto flujo (TNAFO) en pacientes con insuficiencia respiratoria aguda grave (IRAG) por neumonía COVID-19 (NCOVID-19) es debatido. Ante la falta de camas en Unidades de Cuidados Intensivos en el Sistema de Salud Pública de la Provincia del Neuquén, se implementó su uso en salas generales. Con el objetivo de describir la experiencia de uso de la TNAFO en pacientes con IRAG por NCOVID-19, se llevó a cabo este estudio retrospectivo multicéntrico. El resultado primario fue la frecuencia de destete exitoso de TNAFO y la mortalidad intrahospitalaria (MIH). Se analizaron 299 pacientes, de éstos, 120 (40.1%) fueron retirados con éxito de la TNAFO. Esta fracasó en 59.8% (179), 44.1% (132) requirió ventilación mecánica invasiva (VMI) y 15.7% (47) no eran candidatos a la intubación. Un índice ROX = 5 a las 6 h después del inicio, se asoció con el éxito de la TNAFO (OR 0.26 [IC 95% 0.15-0.46] p < 0.0001). La MIH general fue del 48.5% (145/299), 70.4% (93/132) en aquellos con VMI, 4.2% (5/120) falleció post destete exitoso de la TNAFO y 100% (47/47) en el grupo no candidatos a la intubación. Los pacientes con TNAFO tuvieron una disminución estadísticamente significativa en la MIH y en días de internación. El uso de TNAFO en salas generales logró una reducción en la utilización de VMI, con una reducción de la mortalidad y días de estada en los internados por NCOVID-19 con IRAG.


Subject(s)
COVID-19 , Respiratory Insufficiency , Humans , Oxygen Inhalation Therapy , Respiration, Artificial , Respiratory Insufficiency/etiology , Respiratory Insufficiency/therapy , SARS-CoV-2
12.
Ophthalmic Genet ; 43(2): 224-229, 2022 04.
Article in English | MEDLINE | ID: mdl-34844512

ABSTRACT

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.


Subject(s)
Eye Diseases, Hereditary , Genetic Diseases, X-Linked , Eye Diseases, Hereditary/genetics , Eye Proteins , Female , Genes, X-Linked , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/genetics , Humans , Male , Mutation , Nerve Tissue Proteins , Pedigree
13.
Horiz. enferm ; 32(1): 28-40, 2021. tab
Article in Spanish | LILACS, BDENF - Nursing | ID: biblio-1224697

ABSTRACT

INTRODUCCIÓN: Las precauciones estándar corresponden a un grupo de prácticas de prevención de infecciones que se aplican en la atención a todos los pacientes, tiene como objetivo prevenir la transmisión cruzada de microorganismos entre pacientes. OBJETIVO: Develar la opinión de las/os estudiantes de Kinesiología de la Universidad Mayor-Temuco con relación a las Precauciones Estándar. METODOLOGÍA: Estudio cualitativo, descriptivo y exploratorio, estudio intrínseco de caso, la muestra no probabilística, intencionada: 12 sujetos estudiante de kinesiología 2018; criterio de inclusión: haber aprobado la asignatura de Cuidados Básicos del Enfermo; recogida de datos: entrevistas en profundidad, se utilizaron notas de campo y se manejó el método de comparación constante, además esquema de la reducción progresiva. RESULTADOS: Para la categoría de significado de precauciones estándar surge medida de protección y seguridad para usuario y tratante; para precauciones estándar utilizadas en prácticas clínicas emerge las subcategorías de elementos y técnicas de barrera en forma análoga nace como categoría aplicabilidad de precauciones estándar de ella se desprenden campos clínicos, eventos clínicos del usuario y técnicas y procedimientos; para la categoría factores facilitadores: docente y estudiantes; en tanto factores obstaculizadores: curriculum. CONCLUSIONES: En los estudiantes existe un conocimiento deficiente y conceptos aislados sobre PE, utilizan principalmente guantes y lavado de manos; menor grado uso de mascarilla y pechera. Destaca positivamente conocimiento docente; factores obstaculizadores: aspectos teóricos deficientes curriculares; considerar modificaciones curriculares en aspectos conceptuales y procedimentales.


BACKGROUND: the standard precautions correspond to a group of infection prevention practices that are applied in the care of all patients, it aims to prevent the cross-transmission of microoganisms between patiens. OBJETIVE: to reveal the opinion of Kinesiology students at the Universidad Mayor-Temuco regarding standard precautions. METHODOLOGY: Qualitative, descriptive, and exploratory study, intrinsic case study, non-probabilistic sample, intentional: 12 subjects, kinesiology student of the year 2018; For data collection, in-depth interviews were used, field notes and the constant comparison method were used, in addition to the progressive reduction scheme. RESULTS: 173 units of meaning emerge, for the category of meaning of standard precautions, protection and security measure for user and trafficker arises; For standard precautions used in clinical practices, the subcategories of barrier elements and techniques emerge, the most mentioned, in an analogous way, the applicability of standard precautions is born as a category of clinical fields, clinical events of the user and techniques and procedures; for the category facilitating factors: teacher and student are the least mentioned; as impeding factors: curriculum. CONCLUSIONS: There is a deficient knowledge and isolated concepts about SP, mainly use gloves and hand washing; less degree the use of masks and scrubs. It is positively highlighted teacher's knowledge, and some of the hindering factors are the lack of theoretical aspects of the curriculum and the consideration for curriculum modifications to compensate conceptual and procedural aspects.


Subject(s)
Humans , Nursing/standards , Universal Precautions , Infection Control/standards , Disease Transmission, Infectious/prevention & control , Security Measures , Students, Health Occupations , Health Knowledge, Attitudes, Practice , Kinesiology, Applied/education
14.
rev. psicogente ; 23(44): 1-26, jul.-dic. 2020. tab
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1361207

ABSTRACT

Resumen Introducción: La Inteligencia Emocional Autopercibida (IEA) se conceptualiza como la actitud de las personas hacia su experiencia emocional y la conciencia de sus propias habilidades emocionales. Una de las herramientas más utilizadas para su evaluación es el Trait Meta-Mood Scale (TMMS). Objetivo: Examinar las propiedades psicométricas del TMMS-24 con el fin de aportar evidencias que garanticen la calidad de la medida en su adaptación al contexto local para su aplicación a estudiantes universitarios de la ciudad de Mar del Plata, Argentina. Método: La muestra estuvo comprendida por 316 estudiantes (71,5 % mujeres y 28,5 % hombres) de la ciudad de Mar del Plata. Los participantes respondieron un cuestionario sociodemográfico, el Trait Meta-Mood Scale-24 y el Listado de Adjetivos para Evaluar la Personalidad. Resultados: El análisis factorial exploratorio dio cuenta de un adecuado ajuste del modelo a los datos y una estructura de tres factores (Atención, Claridad y Reparación Emocional), describiendo el 54,5 % de la varianza. La consistencia interna fue adecuada, observándose coeficientes alfa de Cronbach (entre .82 y .85) y alfa ordinal (entre .84 y .88), muy buenos para las tres sub-escalas. Respecto a la relación con variables sociodemográficas, no se encontraron diferencias según sexo ni asociación con la edad. También, se estudió la relación entre IEA y la personalidad. Conclusiones: El TMMS-24 mostró propiedades psicométricas adecuadas para la medición de IEA en población universitaria marplatense, observándose evidencias de validez (aparente, de contenido, basada en la estructura interna y basada en la relación con otras variables) y de confiabilidad.


Abstract Introduction: Perceived Emotional Intelligence (PEI) is conceptualized as people's attitude toward their emotional experience and their awareness of their own emotional abilities. The Trait Meta-Mood Scale (TMMS) is one of the most widely-used tools for its evaluation. Objective: To test the TMMS-24's psychometric properties to provide evidence that guarantees the measurement's quality when adapting to the local context, so it can be implemented for university students in the city of Mar del Plata, Argentina. Method: The sample included 316 students (71.5% women and 28.5% men) from the city of Mar del Plata. The participants answered a sociodemographic questionnaire, the TMMS-24, and the adjective checklist to assess personality. Results: The exploratory factor analysis showed that the data adjusted well to the model and showed a three-factor structure (attention, clarity, and emotional healing), describing 54.5% of the variance. The internal consistency was suitable, showing Cronbach's alpha coefficients (between 0.82 and 0.85) and ordinal alpha (between 0.84 and 0.88) as very good for the three subscales. Regarding the sociodemographic variables relationship, no differences were found according to sex nor was an association with age found. In addition, the relationship between PEI and the personality was studied. Conclusions: The TMMS-24 showed suitable psychometric properties for PEI measurement among the university students of Mar del Plata. The evidence found was apparent, with content based on the internal structure and relationship with other variables. This evidence was considered valid and reliable.

15.
Article in Spanish | LILACS | ID: biblio-1148365

ABSTRACT

A la fecha de redacción de este artículo, más de 500 mil personas han sido afectadas por el virus SARS-CoV-2 en Chile, manifestando diferentes grados de la enfermedad COVID-19. Aquellas que sobrellevan condiciones más severas generan una condición que requiere soporte ventilatorio invasivo y tratamiento en unidades de cuidados intensivos, que de prolongarse en el tiempo deriva en la necesidad de una traqueostomía. A pesar de los beneficios que posee esta en la recuperación de personas con dificultades respiratorias, su implementación se asocia a alteraciones deglutorias que se suman a las generadas por COVID-19. Condición que supone un desafío para los/as fonoaudiólogos/as, quienes están expuestos/as al virus debido a su proceder en estructuras del tracto aerodigestivo y la realización de procedimientos potencialmente generadores de aerosol. El objetivo de este artículo es entregar orientaciones y herramientas clínicas para la intervención en la deglución de personas con traqueostomía y COVID-19. Estas emanan de un análisis pragmático de la evidencia disponible a la fecha, interpretadas bajo nuestra experiencia de atender a más de 561 personas con dicha condición. Se espera contribuir a la rehabilitación de la deglución en personas con COVID-19 y traqueostomía. Para ello se expone sobre las características de la deglución en esta población, su tratamiento, consideraciones para el uso de técnicas específicas, y orientaciones para la mejora de la calidad de vida mediante la mantención y/o recuperación de la funcionalidad deglutoria. Siempre bajo un esquema centrado en el cuidado y protección de las personas hospitalizadas y el equipo de salud.


At the time of writing this article, more than a million people have been affected by the SARS-CoV-2 virus in Chile, displaying different degrees of COVID-19 disease. Severe infections generate a condition that requires invasive ventilatory support and treatment in intensive care units, which, when extended in time, makes necessary conducting a tracheostomy. Despite its benefits for the recovery of patients with respiratory difficulties, it is linked to swallowing disorders that add to the problems generated by COVID-19. This represents a challenge for speech pathologists, who are potentially exposed to the virus because they work on structures of the aerodigestive tract and becuase they conduct procedures that may be aerosol-generating. The aim of this article is to provide guidance and clinical tools for swallowing-intervention in people with tracheostomies and COVID-19. Thees tools spring from a pragmatic analysis of the currently available evidence , interpreted based on our experience of caring more than561 infected patients. We hope to contribute to the rehabilitation of swallowing of patients with COVID-19 and a tracheostomy. The characteristics of swallowing in this population, its treatment, considerations for the use of specific techniques, and guidelines for improving the quality of life through the maintenance and/or recovery of swallowing functionality are discussed, focused caring and protecting hospitalized patients and the health team.


Subject(s)
Humans , Pneumonia, Viral/surgery , Tracheostomy/adverse effects , Deglutition Disorders/etiology , Coronavirus Infections/surgery , Speech, Language and Hearing Sciences/standards , Pneumonia, Viral/complications , Pneumonia, Viral/rehabilitation , Quality of Life , Deglutition Disorders/rehabilitation , Coronavirus Infections/complications , Coronavirus Infections/rehabilitation , Critical Care , Speech, Language and Hearing Sciences/methods , Pandemics , Betacoronavirus
16.
Rev. chil. fonoaudiol. (En línea) ; 19: 1-9, nov. 2020. ilus
Article in Spanish | LILACS | ID: biblio-1148401

ABSTRACT

La enfermedad COVID-19 fue declarada pandemia por la Organización Mundial de la Salud. Su presentación más severa genera una condición que requiere tratamiento en unidades de cuidados intensivos, condición que al prolongarse en el tiempo requiere la implementación de una traqueostomía para facilitar la entrega de soporte ventilatorio invasivo. Si bien este dispositivo posee importantes ventajas que favorecen la recuperación y rehabilitación, también es cierto que genera diversas complicaciones en la comunicación de las personas, condición que se suma a los efectos propios del COVID-19 y la frecuente historia de intubación endotraqueal previa. El objetivo de este artículo es proveer orientaciones y herramientas clínicas para el tratamiento de la fonación para la comunicación en personas con traqueostomía y COVID-19. Se considera para ello las recomendaciones de la literatura existentes a la fecha, bajo un análisis pragmático y basado en nuestra experiencia de atender a más de 561 personas con esta condición. Se exponen las características de la comunicación en esta población, su tratamiento, consideraciones para el uso de técnicas específicas y orientaciones para la mejora de la calidad de vida. Siempre con un enfoque orientado al cuidado y protección de las/os usuarias/os y el equipo de salud, en particular fonoaudiólogas y fonoaudiólogos del país.


The COVID-19 disease was declared a pandemic by the World Health Organization. When most severe, it generates a condition that requires treatment in intensive care units, which, when extended in time, requires implementing of a tracheostomy to facilitate invasive ventilatory support. Although ventilatory support has important advantages that favor recovery and rehabilitation, it generates various complications for patients' communication, a condition that adds to the effects of COVID-19 and the frequent history of previous endotracheal intubation. The aim of this article is to provide guidance and clinical tools for the treatment of phonation to facilitate communication in people with tracheostomy and COVID-19. For this, the recommendations of the existing available literature are considered, under a pragmatic analysis and based on our experience of treating more than 561 infected patients. The characteristics of communication in this population, its treatment, considerations for the use of specific techniques and guidelines to improve quality of life are exposed. Always with an approach oriented to the care and protection of users and the health team, in particular speech-language pathologists in the country.


Subject(s)
Humans , Pneumonia, Viral/surgery , Tracheostomy/adverse effects , Voice Disorders/etiology , Coronavirus Infections/surgery , Communication Disorders/etiology , Speech, Language and Hearing Sciences/standards , Phonation , Pneumonia, Viral/complications , Pneumonia, Viral/rehabilitation , Quality of Life , Hospital-Patient Relations , Voice Disorders/rehabilitation , Coronavirus Infections/complications , Coronavirus Infections/rehabilitation , Communication , Communication Disorders/rehabilitation , Critical Care , Speech, Language and Hearing Sciences/methods , Pandemics , Betacoronavirus , Intubation, Intratracheal
17.
Am J Med Genet A ; 182(11): 2773-2777, 2020 11.
Article in English | MEDLINE | ID: mdl-32902915

ABSTRACT

Hereditary mucoepithelial dysplasia (HMD) is an uncommon autosomal dominant disease affecting skin, mucosae, hair, eyes, and lungs. Prominent clinical features include non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, and involvement of the conjunctival mucosa. To date, 20 familial or sporadic HMD cases have been described, most of them originating from Caucasian ethnic groups. In this study, a novel HMD pedigree, including an affected father and his daughter, is reported. Clinical expression showed significant differences in affected subjects, especially in the distribution and severity of skin lesions. Exome sequencing demonstrated that both affected subjects carried a heterozygous c.1669C>T (p.Arg557Cys) pathogenic variant in the SREBF1 gene. Our results improve the knowledge of the clinical and genetic features of HMD. In addition, a comparative review of the clinical features of all published HMD cases is presented.


Subject(s)
Alopecia/pathology , Exome Sequencing/methods , Keratosis/pathology , Mutation , Phenotype , Skin Abnormalities/pathology , Sterol Regulatory Element Binding Protein 1/genetics , Adult , Alopecia/genetics , Child , Female , Heterozygote , Humans , Keratosis/genetics , Male , Mucous Membrane/pathology , Pedigree , Skin Abnormalities/genetics
18.
Rev. chil. nutr ; 47(4): 552-560, ago. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1138589

ABSTRACT

RESUMEN Propósito: La inexistencia de datos a nivel nacional y regional sobre el valor nutricional (VN) de la alimentación ofrecida en comedores comunitarios dirigidos por Organizaciones No Gubernamentales (ONG), que atienden población infantil de zonas urbano marginales, junto con el incremento en la prevalencia de exceso de peso reportada por el Ministerio de Educación Pública de Costa Rica (MEP) en el 2016, justifican el estudio del VN del almuerzo servido a niños(as), que participan en programas de alimentación complementaria en zonas urbano marginales de San José, Costa Rica. Método: Se analizaron mediante muestreo aleatorio 321 platos de almuerzo, durante 12 días en dos comedores. Se reconstruyeron recetas y se determinaron tamaños de porción mediante pesaje directo y se calculó el VN promedio por plato. Resultados: El valor energético fue cercano a la recomendación nutricional. Sin embargo, valores de proteína, grasa total, grasa insaturada, fibra dietética, calcio y potasio fueron inferiores a las recomendaciones y por el contrario, carbohidratos totales, azúcar agregada, grasa saturada y sodio fueron superiores a la recomendación nacional. Conclusión: No es suficiente ofrecer un aporte adecuado de energía. Los excesos y deficiencias de nutrientes reflejan un patrón alimentario obesogénico que suma vulnerabilidad a la condición de pobreza y pobreza extrema de la población infantil de zonas urbano-marginales.


ABSTRACT Purpose: The lack of data at a national and regional level regarding the nutritional value (NV) of the food offered in community feeding programs run by Non-Governmental Organizations, which serve the population of marginal urban areas (an important indicator of infant health), along with the increase in the prevalence of excess weight reported in 2016 by the Ministry of Public Education of Costa Rica, justifies the study of the NV of the lunch served to preschool and school-aged children, who participate in complementary feeding programs in marginal urban areas of San José, Costa Rica. Method: 321 meals served were analyzed over 12 days, in 2 food services. Recipes were reconstructed, and portion sizes were determined by direct weighing of food served and the average NV per dish was calculated. Results: The energy value of the lunch served was similar to the nutritional recommendation. However, for the values of protein, total fat, unsaturated fat, dietary fiber, calcium and potassium which were lower than the nutritional recommendation and on the contrary, the content of total carbohydrates, added sugar, saturated fat and sodium was excessive. Conclusion: It is not enough to offer minors an adequate energy amount. Nutrient excesses and deficiencies reflect an obesogenic food pattern, which adds vulnerability to the condition of poverty and extreme poverty of the child population of marginalized urban areas.


Subject(s)
Child, Preschool , Child , Minors , Meals , Food , Nutritive Value , Schools , Dietary Fats , Dietary Fiber , Sugars
19.
Bol Med Hosp Infant Mex ; 77(3): 146-148, 2020.
Article in English | MEDLINE | ID: mdl-32496470

ABSTRACT

Background: Transient pigmentary lines of the newborn are uncommon cutaneous lesions of unknown etiology. To date, only a few cases have been described. Case report: A patient with a combination of transient pigmentary lines and ocular malformation is described. Molecular analysis of the SRY-box 2 (SOX2) and MIFT genes was conducted to rule out any monogenetic etiology. Conclusions: Worldwide, this is the eighth case of transient pigmentary lines of the newborn reported, and the first associated with anophthalmia. No mutations in the analyzed genes (SOX2 and MIFT) were identified. Therefore, somatic mutations could be responsible for this anomaly.


Introducción: Las líneas transitorias pigmentarias del recién nacido son lesiones cutáneas poco comunes. A la fecha, pocos casos se han descrito. Caso clínico: Paciente neonato con la combinación de líneas transitorias hiperpigmentadas y una malformación ocular. Se realizó secuenciación molecular de los genes SOX2 y MIFT para descartar una etiología monogénica. Conclusiones: En todo el mundo, este es el octavo caso reportado de líneas transitorias hiperpigmentadas del recién nacido, y el primero asociado con anoftalmia. No se identificaron mutaciones en los genes estudiados (SOX2 y MIFT). Por lo tanto, las mutaciones somáticas pueden ser la causa de la afección.


Subject(s)
Anophthalmos , Hyperpigmentation , Anophthalmos/diagnosis , Anophthalmos/genetics , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , Infant, Newborn , Mutation
20.
Bol. méd. Hosp. Infant. Méx ; 77(3): 146-148, may.-jun. 2020. graf
Article in English | LILACS | ID: biblio-1124282

ABSTRACT

Abstract Background: Transient pigmentary lines of the newborn are uncommon cutaneous lesions of unknown etiology. To date, only a few cases have been described. Case report: A patient with a combination of transient pigmentary lines and ocular malformation is described. Molecular analysis of the SRY-box 2 (SOX2) and MIFT genes was conducted to rule out any monogenetic etiology. Conclusions: Worldwide, this is the eighth case of transient pigmentary lines of the newborn reported, and the first associated with anophthalmia. No mutations in the analyzed genes (SOX2 and MIFT) were identified. Therefore, somatic mutations could be responsible for this anomaly.


Resumen Introducción: Las líneas transitorias pigmentarias del recién nacido son lesiones cutáneas poco comunes. A la fecha, pocos casos se han descrito. Caso clínico: Paciente neonato con la combinación de líneas transitorias hiperpigmentadas y una malformación ocular. Se realizó secuenciación molecular de los genes SOX2 y MIFT para descartar una etiología monogénica. Conclusiones: En todo el mundo, este es el octavo caso reportado de líneas transitorias hiperpigmentadas del recién nacido, y el primero asociado con anoftalmia. No se identificaron mutaciones en los genes estudiados (SOX2 y MIFT). Por lo tanto, las mutaciones somáticas pueden ser la causa de la afección.


Subject(s)
Humans , Infant, Newborn , Anophthalmos , Hyperpigmentation , Anophthalmos/diagnosis , Anophthalmos/genetics , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , Mutation
SELECTION OF CITATIONS
SEARCH DETAIL