Experience with the use of intravitreal bevacizumab in cases with type I retinopathy of prematurity in a Latin American country.

In retinopathy of prematurity (ROP) type I, the use of intravitreal bevacizumab (IVB), which is an inhibitor of endothelial growth factor (VEGF), has become popular despite not being a therapy approved by regulatory agencies. However, IVB has shown positive effects in halting disease progression at lower costs compared to other anti-VEGF therapies (ranibizumab or aflibercept). In this report, we present the experience during the treatment with IVB of 102 Colombian children with ROP type I, with a success rate of 98% (100). Complications occurred in 3.9% (4). Finally, we conclude that a single dose of IVB is an effective therapy for the management of ROP type I, with a lower risk of complications and retreatment.

Recommendations on the treatment of metastatic hormone-sensitive prostate cancer: Patient selection.

The standard treatment for metastatic hormone-sensitive prostate cancer (mHSPC) is now a combination of androgen deprivation therapy plus an androgen receptor-targeted therapy (abiraterone, apalutamide, enzalutamide or darolutamide), with or without chemotherapy (docetaxel). The selection of suitable patients for each therapeutic approach has become a determining factor to ensure efficacy and minimize side effects. This article combines recent clinical evidence with the accumulated experience of experts in medical oncology, radiation oncology and urology, to provide a comprehensive view and therapeutic recommendations for mHSPC.

Placental concentrations of xenoestrogenic organochlorine pesticides and polychlorinated biphenyls and assessment of their xenoestrogenicity in the PA-MAMI mother-child cohort.

BACKGROUND: Organochlorine pesticides (OCPs) and polychlorinated biphenyls (PCB), they have contributed to the exposure of women to persistent organic pollutants (POPs). These compounds can cross the placental barrier and interfere with the hormonal system of newborns. AIM: To determine concentrations of OCPs and PCBs and their xenoestrogenic activity in placentas of women from the PA-MAMI cohort of Panama. METHODS: Thirty-nine placenta samples from women in the Azuero peninsula (Panama) were analyzed. Five OCPs [p-p'-dichlorodiphenyldichloroethylene (p-p'-DDE), beta-hexachlorohexane (ß-HCH), γ-hexachlorohexane (lindane), hexachlorobenzene (HCB) and mirex] and three PCB congeners (PCB-138, PCB-153 and PCB-180) were quantified in placenta extracts. The xenoestrogenic activity of extracts was assessed with the E-Screen bioassay to estimate the total effective xenoestrogen burden (TEXB). RESULTS: All placental samples were positive for at least three POP residues and >70% for at least six. The frequencies of quantified OCPs ranged from 100% for p,p'-DDE and HCB to 30.8% for ß-HCH. The highest median concentration was for lindane (380.0 pg/g placenta), followed by p,p'-DDE (280.0 pg/g placenta), and HCB (90.0 pg/g placenta). Exposure to p,p'-DDE was associated with greater meat consumption, suggesting that animal fat is a major source of exposure to DDT metabolites. The frequency of detected PCBs ranged between 70 and 90%; the highest median concentration was for PCB 138 (17.0 pg/g placenta), followed by PCB 153 (16.0 pg/g placenta). All placentas were positive in the estrogenicity bioassay with a median TEXB-α of 0.91 pM Eeq/g of placenta. Exposure to lindane was positively associated with the xenoestrogenicity of TEXB- α, whereas this association was negative in the case of exposure to PCB 153. CONCLUSIONS: To our best knowledge, this study contributes the first evidence on the presence of POPs and xenoestrogenic burden in placentas from Latin-American women. Given concerns about the consequences of prenatal exposure to these compounds on children's health, preventive measures are highly recommended to eliminate or minimize the risk of OCP exposure during pregnancy.

Management of cerebral venous thrombosis in Spain: MOTIVATE descriptive study.

INTRODUCTION: Cerebral venous thrombosis (CVT) is an uncommon cause of stroke that mainly affects young adults. Early, accurate diagnosis can reduce the rate and severity of complications. OBJECTIVE: The aim of this study was to analyse the clinical characteristics, management, and treatment of CVT in different centres in Spain. METHODS: We conducted a multicentre, retrospective, descriptive study of patients hospitalised due to CVT between 2008 and 2017 at 10 Spanish centres. RESULTS: We included 256 patients, with a mean age (SD) of 49.8 (18.7) years; 51% of patients were women. The most frequent symptoms were headache (73%), focal deficits (50%), epileptic seizures (33%), and encephalopathy (21%). The most frequent localisations were the superior sagittal sinus (12.5%), the transverse sinus (10.9%), and 2 or more sinuses or veins (66.4%). Thrombophilia was the most frequent known aetiology (24%), and was most commonly associated with the prothrombin G20210A mutation (19%). Forty-six percent of patients were treated with antithrombotics for 3 to 6 months, 21% for one year, and 22.6% required indefinite anticoagulation. Endovascular therapy was performed in 5% of cases, and 33% required neurosurgery. Regarding outcomes, 75% of patients were independent at 3 months (modified Rankin Scale [mRS] score ≤ 2), with papilloedema (P =  .03), focal deficits (P = .001), and encephalopathy (P < .001) showing a statistically significant association with poor prognosis (mRS > 3). The in-hospital mortality rate was 4.3%, with a 3-month mortality rate of 6.3%. CONCLUSION: The diverse risk factors and variable presentation of CVT represent a challenge in the diagnosis and treatment of this condition. To improve prognosis and reduce mortality, it is essential to establish management protocols for this entity.

Various tomato cultivars display contrasting morphological and molecular responses to a chronic heat stress.

Climate change is one of the biggest threats that human society currently needs to face. Heat waves associated with global warming negatively affect plant growth and development and will increase in intensity and frequency in the coming years. Tomato is one of the most produced and consumed fruit in the world but remarkable yield losses occur every year due to the sensitivity of many cultivars to heat stress (HS). New insights into how tomato plants are responding to HS will contribute to the development of cultivars with high yields under harsh temperature conditions. In this study, the analysis of microsporogenesis and pollen germination rate of eleven tomato cultivars after exposure to a chronic HS revealed differences between genotypes. Pollen development was either delayed and/or desynchronized by HS depending on the cultivar considered. In addition, except for two, pollen germination was abolished by HS in all cultivars. The transcriptome of floral buds at two developmental stages (tetrad and pollen floral buds) of five cultivars revealed common and specific molecular responses implemented by tomato cultivars to cope with chronic HS. These data provide valuable insights into the diversity of the genetic response of floral buds from different cultivars to HS and may contribute to the development of future climate resilient tomato varieties.

Clinical standards for drug-susceptible TB in children and adolescents.

BACKGROUND: These clinical standards aim to provide guidance for diagnosis, treatment, and management of drug-susceptible TB in children and adolescents.METHODS: Fifty-two global experts in paediatric TB participated in a Delphi consensus process. After eight rounds of revisions, 51/52 (98%) participants endorsed the final document.RESULTS: Eight standards were identified: Standard 1, Age and developmental stage are critical considerations in the assessment and management of TB; Standard 2, Children and adolescents with symptoms and signs of TB disease should undergo prompt evaluation, and diagnosis and treatment initiation should not depend on microbiological confirmation; Standard 3, Treatment initiation is particularly urgent in children and adolescents with presumptive TB meningitis and disseminated (miliary) TB; Standard 4, Children and adolescents should be treated with an appropriate weight-based regimen; Standard 5, Treating TB infection (TBI) is important to prevent disease; Standard 6, Children and adolescents should receive home-based/community-based treatment support whenever possible; Standard 7, Children, adolescents, and their families should be provided age-appropriate support to optimise engagement in care and clinical outcomes; and Standard 8, Case reporting and contact tracing should be conducted for each child and adolescent.CONCLUSION: These consensus-based clinical standards, which should be adapted to local contexts, will improve the care of children and adolescents affected by TB.

[Quality of life in people with epilepsy: beyond seizures]. / Calidad de vida en personas con epilepsia. Más allá de las crisis.

INTRODUCTION: People with epilepsy have multiple barriers to recovery: access to medication, comorbidities and social problems. The aim of this study is to determine psychosocial factors associated with the perception of quality of life in people with epilepsy in the department of Bolivar, Colombia, in the year 2022. SUBJECTS AND METHODS: Descriptive cross-sectional study, correlational, with a sample stratified with a margin of error of 5%, according to the calculation of the average number of people treated for epilepsy in Colombia. 174 people participated with a mean age of 39.55 years, 50% men and 50% women. An instrument was used that determined sociodemographic data, quality of life (Quality of Life in Epilepsy Inventory-10), adherence to treatment (Morisky test), self-care behaviors, perception of disability and provision of health services. All the instruments showed a Cronbach's Alpha greater than 0.686 for this population. RESULTS: 21.3% had focal onset epilepsy; 41% with generalized epilepsy without focal onset; 18.4% with focal onset that generalized; 12.6% did not know their type of epilepsy; and 6.3% reported that they were not informed about their type of epilepsy. Based on correlations, an explanatory model of quality of life is shown, with pillars such as drug adherence, self-care habits, time without seizures, and perceived disability. CONCLUSIONS: Although time without seizures is a fundamental element in recovery, living conditions and mental health problems are key elements to achieve a better quality of life in epilepsy.

TITLE: Calidad de vida en personas con epilepsia. Más allá de las crisis.Introducción. Las personas con epilepsia tienen múltiples barreras para recuperarse: acceso a medicamentos, comorbilidades y problemas sociales. El objetivo del presente estudio es determinar factores psicosociales asociados con la percepción de la calidad de vida en personas con epilepsia en el departamento de Bolívar, Colombia, en el año 2022. Sujetos y métodos. Estudio descriptivo de corte transversal, correlacional, con un muestreo estratificado con un margen de error del 5%, según el cálculo del promedio de personas atendidas por epilepsia en Colombia. Participaron 174 personas con una edad media de 39,55 años, un 50% hombres y un 50% mujeres. Se usó un instrumento que determinó datos sociodemográficos, calidad de vida (Quality of Life in Epilepsy Inventory-10), adhesión al tratamiento (test de Morisky), conductas de autocuidado, percepción de incapacidad y prestación de los servicios de salud. Todos los instrumentos mostraron un alfa de Cronbach superior a 0,686 para esta población. Resultados. El 21,3% contó con epilepsia de inicio focal; el 41%, con epilepsia generalizada sin inicio focal; el 18,4%, con epilepsia de inicio focal que generaliza; el 12,6% desconocía su tipo de epilepsia; y el 6,3% manifestó que no fue informado sobre su tipo de epilepsia. Basándose en correlaciones, se muestra un modelo explicativo de calidad de vida, con pilares como la adhesión farmacológica, los hábitos de autocuidado, el tiempo sin crisis y la incapacidad percibida. Conclusiones. Aunque el tiempo sin crisis constituye un elemento fundamental en la recuperación, las condiciones de vida y los problemas de salud mental constituyen elementos claves para lograr una mejor calidad de vida en epilepsia.

Utilidad pronóstica de la presión de pulso en pacientes con insuficiencia cardiaca con fracción de eyección preservada: Registro RICA / Prognostic utility of pulse pressure in patients with heart failure with preserved ejection fraction: The RICA Registry

Background and aims The prognostic role of pulse pressure (PP) in heart failure (HF) patients with preserved left ventricular ejection fraction (LVEF) is not well understood. Our aim was to evaluate it in acute and stable HF. Material and methods This work is a retrospective observational study of patients included in the RICA registry between 2008 and 2021. Blood pressure was collected on admission (decompensation) and 3 months later on an outpatient basis (stability). Patients were categorized according to whether the PP was greater or less than 50mmHg. All-cause mortality was assessed at 1year after admission. Results A total of 2291 patients were included, with mean age 80.1±7.7 years. 62.9% were women and 16.7% had a history of coronary heart disease. In the acute phase, there was no difference in mortality according to PP values, but in the stable phase PP<50mmHg was independently associated with all-cause mortality at 1-year follow-up (HR 1.57, 95% CI 1.21−2.05, p=0.001), after adjusting for age, sex, New York Heart Association functional class, previous HF, chronic kidney disease, valvular heart disease, cerebrovascular disease, score on the Barthel and Pfeiffer scales, hemoglobin and sodium levels. Conclusion Low stable-phase PP was associated with increased all-cause mortality in HF patients with preserved LVEF. However, PP was not useful as a prognostic marker of mortality in acute HF. Further studies are needed to assess the relationship of this variable with mortality in HF patients (AU)

Antecedentes y objetivo El papel pronóstico de la presión de pulso (PP) en pacientes con insuficiencia cardiaca (IC) con fracción de eyección de ventrículo izquierdo (FEVI) preservada no es bien conocido. Nuestro objetivo fue evaluarlo en fases de descompensación y de estabilidad. Material y métodos Estudio observacional retrospectivo de pacientes incluidos en registro RICA entre 2008 y 2021. La presión arterial se recogió al ingreso (descompensación) y a los 3 meses (estabilidad). Se calculó la PP y los pacientes se categorizaron según PP mayor/igual vs menor de 50mmHg. Se evaluó la mortalidad por todas las causas al año del ingreso. Resultados Se incluyeron 2.291 pacientes, con edad media 80,1±7,7 años. El 62,9% eran mujeres y un 16,7% tenían antecedentes de cardiopatía isquémica. En fase aguda, no hubo diferencias en la mortalidad según los valores de PP, pero en fase estable una PP<50mmHg se asoció de forma independiente con mortalidad por todas las causas al año de seguimiento (HR 1,57, IC 95% 1,21-2,05; p=0,001), una vez controlado por edad, sexo, NYHA, IC previa, enfermedad renal crónica, valvulopatía, enfermedad cerebrovascular, Barthel, Pfeiffer, hemoglobina y sodio. Conclusione Una PP baja en fase estable se asoció con mayor mortalidad por todas las causas en pacientes con IC con FEVI preservada. Sin embargo, la PP no demostró ser un factor pronóstico en fase de descompensación. Se necesitan más estudios que valoren la relación de esta variable con la mortalidad en los pacientes con IC (AU)

Calidad de vida en personas con epilepsia. Más allá de las crisis / Quality of life in people with epilepsy: beyond seizures

Introducción: Las personas con epilepsia tienen múltiples barreras para recuperarse: acceso a medicamentos, comorbilidades y problemas sociales. El objetivo del presente estudio es determinar factores psicosociales asociados con la percepción de la calidad de vida en personas con epilepsia en el departamento de Bolívar, Colombia, en el año 2022. Sujetos y métodos: Estudio descriptivo de corte transversal, correlacional, con un muestreo estratificado con un margen de error del 5%, según el cálculo del promedio de personas atendidas por epilepsia en Colombia. Participaron 174 personas con una edad media de 39,55 años, un 50% hombres y un 50% mujeres. Se usó un instrumento que determinó datos sociodemográficos, calidad de vida (Quality of Life in Epilepsy Inventory-10), adhesión al tratamiento (test de Morisky), conductas de autocuidado, percepción de incapacidad y prestación de los servicios de salud. Todos los instrumentos mostraron un alfa de Cronbach superior a 0,686 para esta población. Resultados: El 21,3% contó con epilepsia de inicio focal; el 41%, con epilepsia generalizada sin inicio focal; el 18,4%, con epilepsia de inicio focal que generaliza; el 12,6% desconocía su tipo de epilepsia; y el 6,3% manifestó que no fue informado sobre su tipo de epilepsia. Basándose en correlaciones, se muestra un modelo explicativo de calidad de vida, con pilares como la adhesión farmacológica, los hábitos de autocuidado, el tiempo sin crisis y la incapacidad percibida. Conclusiones: Aunque el tiempo sin crisis constituye un elemento fundamental en la recuperación, las condiciones de vida y los problemas de salud mental constituyen elementos claves para lograr una mejor calidad de vida en epilepsia.(AU)

Introduction: People with epilepsy have multiple barriers to recovery: access to medication, comorbidities and social problems. The aim of this study is to determine psychosocial factors associated with the perception of quality of life in people with epilepsy in the department of Bolívar, Colombia, in the year 2022. Subjects and methods: Descriptive cross-sectional study, correlational, with a sample stratified with a margin of error of 5%, according to the calculation of the average number of people treated for epilepsy in Colombia. 174 people participated with a mean age of 39.55 years, 50% men and 50% women. An instrument was used that determined sociodemographic data, quality of life (Quality of Life in Epilepsy Inventory-10), adherence to treatment (Morisky test), self-care behaviors, perception of disability and provision of health services. All the instruments showed a Cronbach’s Alpha greater than 0.686 for this population. Results: 21.3% had focal onset epilepsy; 41% with generalized epilepsy without focal onset; 18.4% with focal onset that generalized; 12.6% did not know their type of epilepsy; and 6.3% reported that they were not informed about their type of epilepsy. Based on correlations, an explanatory model of quality of life is shown, with pillars such as drug adherence, self-care habits, time without seizures, and perceived disability. Conclusions: Although time without seizures is a fundamental element in recovery, living conditions and mental health problems are key elements to achieve a better quality of life in epilepsy.(AU)

Prognostic utility of pulse pressure in patients with heart failure with preserved ejection fraction: The RICA Registry.

BACKGROUND AND AIMS: The prognostic role of pulse pressure (PP) in heart failure (HF) patients with preserved left ventricular ejection fraction (LVEF) is not well understood. Our aim was to evaluate it in acute and stable HF. MATERIAL AND METHODS: This work is a retrospective observational study of patients included in the RICA registry between 2008 and 2021. Blood pressure was collected on admission (decompensation) and 3 months later on an outpatient basis (stability). Patients were categorized according to whether the PP was greater or less than 50mmHg. All-cause mortality was assessed at 1year after admission. RESULTS: A total of 2291 patients were included, with mean age 80.1±7.7 years. 62.9% were women and 16.7% had a history of coronary heart disease. In the acute phase, there was no difference in mortality according to PP values, but in the stable phase PP<50mmHg was independently associated with all-cause mortality at 1-year follow-up (HR 1.57, 95% CI 1.21-2.05, p=0.001), after adjusting for age, sex, New York Heart Association functional class, previous HF, chronic kidney disease, valvular heart disease, cerebrovascular disease, score on the Barthel and Pfeiffer scales, hemoglobin and sodium levels. CONCLUSIONS: Low stable-phase PP was associated with increased all-cause mortality in HF patients with preserved LVEF. However, PP was not useful as a prognostic marker of mortality in acute HF. Further studies are needed to assess the relationship of this variable with mortality in HF patients.

[Factors associated with the hospital at home workload: A Delphi consensus study]. / Factores relacionados con la carga de trabajo en hospitalización a domicilio: estudio de consenso Delphi.

OBJECTIVES: To identify and prioritize a list of factors that contribute to the workload of the hospital at home (HaH) professionals. MATERIAL AND METHODS: A qualitative methodology study performed between January and December 2019 in the 10 HAH units of the Basque Country. The data were obtained in 4phases: 1. Systematic literature search and review; 2. Expert group meeting; 3. Consensus method: Delphi technique (2 survey rounds) and nominal group meeting; 4. Meeting of the research team. RESULTS: In the systematic literature search and review 85 factors were initially identified. These were reduced to 38 after the 8-person expert group meeting, in which 10 new factors were added. After the 2 Delphi rounds (106 and 57 professionals, respectively), 17 factors were maintained and 12 remained in doubt. The latter were evaluated at the nominal group meeting, consisting of 13 professionals who decided to eliminate 5 factors, include 3, and keep 3 as doubt. After the 8-person research team meeting, 14 potential factors were finally selected. They are related to the place of residence, the health state and social situation of the patients, as well as the health care provided at home. CONCLUSIONS: The identified factors could serve for improving the organization and optimize the daily word of the HaH professionals.

Application of Raman spectroscopy for the determination of proteins denaturation and amino acids decomposition temperature.

Raman spectroscopy was employed to study the thermal denaturation of three different proteins, bovine serum albumin (BSA), lysozyme, ovalbumin; and the decomposition temperature of three amino acids, l-glutamine, l-cysteine, and l-alanine, all of them as lyophilized powders. All the Raman bands observed in the spectra obtained were recorded and analyzed at preset heating temperatures. The results obtained for either protein denaturation temperature TD and amino acid decomposition temperatures TM-dc, were compared with those measured by differential scanning calorimetry (DSC). The DSC and Raman results were additionally corroborated with a thermogravimetric analysis (TGA) for the case of proteins. This exercise indicated almost complete coincidence in the determination of these transition temperatures between the three techniques, evidencing the applicability of Raman spectroscopy in the study of denaturation and decomposition temperatures of proteins and amino acids.

Focal status epilepticus: a review of pharmacological treatment.

INTRODUCTION: Status epilepticus (SE) is a neurological emergency associated with high morbidity and mortality. One prognostic factor is the type of SE. The purpose of this review is to analyse the most recent recommendations of different scientific societies and expert groups on the treatment of SE, and the latest studies, to assess the literature on the management of focal SE. METHODS: We searched PubMed for studies published between 1 August 2008 and 1 August 2018 on the pharmacological treatment of focal SE and its different types in adults. RESULTS: We identified 29 publications among reviews, treatment guidelines, meta-analyses, clinical trials, and case series on the treatment of SE. Only 3 of them accounted for whether SE was focal or generalised; 4 focused exclusively on focal SE, and 7 differentiated between convulsive and non-convulsive SE and also record the presence of focal seizures. Treatment recommendations for focal SE do not differ from those of generalised SE in stages I and II: initially intravenous lorazepam or diazepam, if the intravenous route is available, and otherwise intramuscular midazolam, followed by intravenous phenytoin, valproate, levetiracetam, or lacosamide if seizures persist. Use of anaesthetic drugs should be delayed for as long as possible in patients with refractory focal SE. CONCLUSIONS: The available scientific evidence is insufficient to claim that pharmacological treatment of focal SE should be different from treatment for generalised SE. More studies with a greater number of patients are needed.

Estatus epiléptico focal: revisión del tratamiento farmacológico / Focal status epilepticus: a review of pharmacological treatment

Introducción: El estatus epiléptico (EE) es una urgencia neurológica asociada a una elevada mortalidad y morbilidad. Uno de los factores pronósticos es el tipo de EE. El objetivo de este trabajo es analizar las últimas recomendaciones de las distintas sociedades científicas y grupos de expertos sobre el tratamiento del EE, así como los estudios más recientes, para evaluar las referencias sobre el manejo del EE de tipo focal.MétodosSe realizó una búsqueda en PubMed entre el 01/08/2008 y el 01/08/2018 sobre el tratamiento farmacológico del EE focal y sus distintos tipos en adultos.ResultadosSe encontraron 29 publicaciones entre revisiones, guías terapéuticas, metaanálisis, ensayos clínicos y estudios de casos sobre el tratamiento del EE. De estas, solamente 3 tienen en cuenta si el EE es focal o generalizado, 4 se centran exclusivamente en EE focales y 7 diferencian entre EE convulsivo o no convulsivo especificando si incluyen crisis focales. Las recomendaciones terapéuticas para un EE focal no difieren de las de un EE generalizado en las fases I y II: inicialmente lorazepam o diazepam intravenoso si hay acceso venoso o midazolam intramuscular en caso contrario, seguido de fenitoína, valproato, levetiracetam o lacosamida intravenosos si persisten las crisis. En EE focales refractarios se recomienda retrasar en lo posible el inicio de fármacos anestésicos.ConclusionesActualmente no disponemos de suficiente evidencia científica para afirmar que el tratamiento farmacológico del EE focal debe ser distinto al del EE generalizado. Son necesarios más registros con un amplio número de pacientes. (AU)

Introduction: Status epilepticus (SE) is a neurological emergency associated with high morbidity and mortality. One prognostic factor is the type of SE. The purpose of this review is to analyse the most recent recommendations of different scientific societies and expert groups on the treatment of SE, and the latest studies, to assess the literature on the management of focal SE.MethodsWe searched PubMed for studies published between 1 August 2008 and 1 August 2018 on the pharmacological treatment of focal SE and its different types in adults.ResultsWe identified 29 publications among reviews, treatment guidelines, meta-analyses, clinical trials, and case series on the treatment of SE. Only 3 of them accounted for whether SE was focal or generalised; 4 focused exclusively on focal SE, and 7 differentiated between convulsive and non-convulsive SE and also record the presence of focal seizures. Treatment recommendations for focal SE do not differ from those of generalised SE in stages I and II: initially intravenous lorazepam or diazepam, if the intravenous route is available, and otherwise intramuscular midazolam, followed by intravenous phenytoin, valproate, levetiracetam, or lacosamide if seizures persist. Use of anaesthetic drugs should be delayed for as long as possible in patients with refractory focal SE.ConclusionsThe available scientific evidence is insufficient to claim that pharmacological treatment of focal SE should be different from treatment for generalised SE. More studies with a greater number of patients are needed. (AU)

Diagnóstico clínico y genético de un caso de síndrome de Meretoja e intervención mediante lifting frontotemporal / Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotemporal lifting procedure

Un varón de 56 años con antecedentes familiares de distrofia corneal consulta por mala visión subjetiva. La biomicroscopia revela una distrofia estromal reticular bilateral y la inspección facial muestra signos de disfunción muscular, como ptosis de cejas, debilidad y descolgamiento de la musculatura frontal, piel redundante en la frente e hiperelasticidad cutánea. El paciente es remitido a cirugía plástica para valoración de la afectación muscular frontal, siendo intervenido mediante lifting frontotemporal. Por otro lado, se realiza estudio genético que confirma la variante patogénica c.640G>A (p.Asp214Asn) en el gen GSN, que codifica la gelsolina, mutación asociada con la amiloidosis familiar tipo finlandés o síndrome de Meretoja (AU)

A 56-year-old male with family background of corneal dystrophy presents with poor subjective vision. Biomicroscopy reveals bilateral reticular stromal dystrophy and facial inspection shows signs of muscle dysfunction, such as eyebrow ptosis, weakness and sagging of the frontal muscles, redundant skin on the forehead and skin hyperelasticity. The patient is referred to plastic surgery for evaluation of the frontal muscle involvement, undergoing a frontotemporal lifting procedure. On the other hand, genetics confirms the pathogenic variant c.640G>A (p.Asp214Asn) in the GSN gene, encoding gelsolin, a mutation associated with Finnish-type familial amyloidosis or Meretoja syndrome (AU)