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1.
J Cardiothorac Surg ; 19(1): 236, 2024 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-38627814

RESUMEN

BACKGROUND: Infective endocarditis of the aortic valve can result in a wide range of destructive pathology beyond the valve leaflets and annulus which require careful surgical planning to provide appropriate debridement and reconstruction. Failure to do so can result in a failure of surgical treatment, recurrent infection and cardiac failure with concomitant high morbidity and mortality. CASE REPORT: We describe the case of a 45-year-old male with previous patch repair of a ventricular septal defect, who was diagnosed with sub-acute bacterial endocarditis of the native aortic valve and developed a new fistula from the aorta to the right ventricular outflow tract which. This was managed surgically. CONCLUSION: This unique case highlights another spectrum of infective endocarditis with a unique approach to repair and management.


Asunto(s)
Endocarditis Bacteriana , Endocarditis , Defectos del Tabique Interventricular , Enfermedades de las Válvulas Cardíacas , Masculino , Humanos , Persona de Mediana Edad , Endocarditis Bacteriana/complicaciones , Endocarditis Bacteriana/cirugía , Endocarditis Bacteriana/diagnóstico , Endocarditis/complicaciones , Defectos del Tabique Interventricular/cirugía , Defectos del Tabique Interventricular/complicaciones , Válvula Aórtica/cirugía , Aorta
2.
Pediatr Nephrol ; 2024 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-38607423

RESUMEN

Recombinant human growth hormone therapy, which was introduced in the 1980s, is now routine for children with advanced chronic kidney disease (CKD) who are exhibiting growth impairment. Growth hormone usage remains variable across different centers, with some showing low uptake. Much of the focus on growth hormone supplementation has been on increasing height because of social and psychological effects of short stature. There are, however, numerous other changes that occur in CKD that have not received as much attention but are biologically important for pediatric growth and development. This article reviews the current knowledge about the multisystem effects of growth hormone therapy in pediatric patients with CKD and highlights areas where additional clinical research is needed. We also included clinical data on children and adults who had received growth hormone for other indications apart from CKD. Ultimately, having robust clinical studies which examine these effects will allow children and their families to make more informed decisions about this therapy.

3.
Epilepsia ; 65(3): 805-816, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38279907

RESUMEN

OBJECTIVE: Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset in the first year of life with a variety of seizure types, including epileptic spasms. However, the impact of early onset seizures and antiseizure medication (ASM) on the risk of developing epileptic spasms and impact on their trajectory are poorly understood, limiting informed and anticipatory treatment, as well as trial design. METHODS: We retrospectively reconstructed seizure and medication histories in weekly intervals for individuals with STXBP1 developmental and epileptic encephalopathy (DEE) with epilepsy onset in the first year of life and quantitatively analyzed longitudinal seizure histories and medication response. RESULTS: We included 61 individuals with early onset seizures, 29 of whom had epileptic spasms. Individuals with neonatal seizures were likely to have continued seizures after the neonatal period (25/26). The risk of developing epileptic spasms was not increased in individuals with neonatal seizures or early infantile seizures (21/41 vs. 8/16, odds ratio [OR] = 1, 95% confidence interval [CI] = .3-3.9, p = 1). We did not find any ASM associated with the development of epileptic spasms following prior seizures. Individuals with prior seizures (n = 16/21, 76%) had a higher risk of developing refractory epileptic spasms (n = 5/8, 63%, OR = 1.9, 95% CI = .2-14.6, p = .6). Individuals with refractory epileptic spasms had a later onset of epileptic spasms (n = 20, median = 20 weeks) compared to individuals with nonrefractory epileptic spasms (n = 8, median = 13 weeks, p = .08). SIGNIFICANCE: We provide a comprehensive assessment of early onset seizures in STXBP1-DEE and show that the risk of epileptic spasms is not increased following a prior history of early life seizures, nor by certain ASMs. Our study provides baseline information for targeted treatment and prognostication in early life seizures in STXBP1-DEE.


Asunto(s)
Epilepsia , Espasmos Infantiles , Recién Nacido , Humanos , Lactante , Estudios Retrospectivos , Electroencefalografía , Espasmos Infantiles/genética , Espasmos Infantiles/tratamiento farmacológico , Convulsiones/genética , Convulsiones/tratamiento farmacológico , Epilepsia/complicaciones , Epilepsia/tratamiento farmacológico , Epilepsia/genética , Espasmo , Proteínas Munc18/genética
4.
Nutr Health ; : 2601060231218049, 2024 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-38281935

RESUMEN

Background: Blended tube feeding (BTF) is the administration of pureed whole foods via gastric feeding tubes. There is some evidence to suggest that BTF may have clinical and psychosocial benefits when compared to commercial formula, but further investigation of how BTF is understood and recommended by health professionals is needed. This study aims to investigate awareness and knowledge of BTF among multi-disciplinary paediatric staff in Ireland. Methods: A cross-sectional observational study was conducted among paediatric staff in Children's Health Ireland (CHI). The 16-item anonymous online survey gathered information on awareness of BTF, willingness to recommend BTF, confidence in BTF knowledge, and self-assessed competence in managing BTF. Results: Of the 207 responses, doctors (n68), nurses (n66), and dietitians (n32) provided 80.3% of responses. Two-thirds (n136, 66%) of the total group were aware of BTF. Of these, 68.1% had cared for a child on BTF and 70% (n = 63/90) were willing to recommend BTF. Three in five (n = 39/63, 61.9%) stated they were somewhat confident in their BTF knowledge and one in five (n = 12/56, 21.4%) were not yet competent in managing children on BTF. The most common reasons for recommending BTF were parental desire (n17, 39.5%) and commercial formula intolerance (n15, 34.9%). The most common barrier to recommending BTF was family logistics (n18, 41.9%). The most valuable sources of information on BTF for two-thirds (68.3%) of participants were other healthcare professionals (HCPs) and patients/caregivers. Conclusion: Healthcare settings should provide evidence-based training to HCPs on BTF to optimise the treatment and safety of children under their care.

6.
Brain ; 146(12): 5182-5197, 2023 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-38015929

RESUMEN

STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental end points, have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1281 cumulative patient-years of seizure and developmental histories in 162 individuals with STXBP1-related disorders and established a natural history framework. STXBP1-related disorders are characterized by a dynamic pattern of seizures in the first year of life and high variability in neurodevelopmental trajectories in early childhood. Epilepsy onset differed across seizure types, with 90% cumulative onset for infantile spasms by 6 months and focal-onset seizures by 27 months of life. Epilepsy histories diverged between variant subgroups in the first 2 years of life, when individuals with protein-truncating variants and deletions in STXBP1 (n = 39) were more likely to have infantile spasms between 5 and 6 months followed by seizure remission, while individuals with missense variants (n = 30) had an increased risk for focal seizures and ongoing seizures after the first year. Developmental outcomes were mapped using milestone acquisition data in addition to standardized assessments including the Gross Motor Function Measure-66 Item Set and the Grasping and Visual-Motor Integration subsets of the Peabody Developmental Motor Scales. Quantification of end points revealed high variability during the first 5 years of life, with emerging stratification between clinical subgroups. An earlier epilepsy onset was associated with lower developmental abilities, most prominently when assessing gross motor development and expressive communication. We found that individuals with neonatal seizures or early infantile seizures followed by seizure offset by 12 months of life had more predictable seizure trajectories in early to late childhood compared to individuals with more severe seizure presentations, including individuals with refractory epilepsy throughout the first year. Characterization of anti-seizure medication response revealed age-dependent response over time, with phenobarbital, levetiracetam, topiramate and adrenocorticotropic hormone effective in reducing seizures in the first year of life, while clobazam and the ketogenic diet were effective in long-term seizure management. Virtual clinical trials using seizure frequency as the primary outcome resulted in wide range of trial success probabilities across the age span, with the highest probability in early childhood between 1 year and 3.5 years. In summary, we delineated epilepsy and developmental trajectories in STXBP1-related disorders using standardized measures, providing a foundation to interpret future therapeutic strategies and inform rational trial design.


Asunto(s)
Epilepsia , Espasmos Infantiles , Recién Nacido , Niño , Preescolar , Humanos , Lactante , Anticonvulsivantes/uso terapéutico , Espasmos Infantiles/genética , Espasmos Infantiles/tratamiento farmacológico , Topiramato/uso terapéutico , Convulsiones/inducido químicamente , Proteínas Munc18/genética
7.
Nurse Educ ; 2023 Oct 09.
Artículo en Inglés | MEDLINE | ID: mdl-37815309

RESUMEN

BACKGROUND: Incorporating social determinants of health (SDoH) into clinical decision-making can clarify disease causes, enhance care planning, and improve health outcomes. Nurse educators should know which strategies are most effective for teaching SDoH in bachelor of science in nursing (BSN) programs. OBJECTIVE: This integrative review synthesizes the literature on familiarizing BSN students with SDoH and identifies effective teaching interventions for SDoH in these programs. METHODS: The researchers searched CINAHL, PubMed, Web of Science, and ERIC databases, and 21 articles met the inclusion criteria. The PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analysis) guidelines were followed for reporting. RESULTS: The curriculum method, service learning, and international outreach experiences were frequently used teaching strategies. Qualitative evaluation was used to evaluate student outcomes. CONCLUSIONS: Nurse educators should be mindful of these strategies. Interdisciplinary teamwork can bolster students' understanding of disadvantaged populations while integrating SDoH in nursing curricula. Quantitative evaluations of learning outcomes are needed to determine teaching effectiveness.

8.
Neurology ; 101(9): e879-e891, 2023 08 29.
Artículo en Inglés | MEDLINE | ID: mdl-37407264

RESUMEN

BACKGROUND AND OBJECTIVES: Pathogenic variants in STXBP1 are among the major genetic causes of neurodevelopmental disorders. Despite the increasing number of individuals diagnosed without a history of epilepsy, little is known about the natural history and developmental trajectories in this subgroup and endpoints for future therapeutic studies are limited to seizure control. METHODS: We performed a cross-sectional retrospective study using standardized questionnaires for clinicians and caregivers of individuals with STXBP1-related disorders capturing medical histories, genetic findings, and developmental outcomes. Motor and language function were assessed using Gross Motor Function Classification System (GMFCS) scores and a speech impairment score and were compared within and across clinically defined subgroups. RESULTS: We collected data of 71 individuals with STXBP1-related disorders, including 44 previously unreported individuals. Median age at inclusion was 5.3 years (interquartile range 3.5-9.3) with the oldest individual aged 43.8 years. Epilepsy was absent in 18/71 (25%) of individuals. The range of developmental outcomes was broad, including 2 individuals presenting with close to age-appropriate motor development. Twenty-nine of 61 individuals (48%) were able to walk unassisted, and 24/69 (35%) were able to speak single words. Individuals without epilepsy presented with a similar onset and spectrum of phenotypic features but had lower GMFCS scores (median 3 vs 4, p < 0.01) than individuals with epilepsy. Individuals with epileptic spasms were less likely to walk unassisted than individuals with other seizure types (6% vs 58%, p < 0.01). Individuals with early epilepsy onset had higher speech impairment scores (p = 0.02) than individuals with later epilepsy onset. DISCUSSION: We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in individuals with and without a history of epilepsy. Individuals with epilepsy, in particular epileptic spasms, and neonatal or early-onset presented with less favorable motor and language functional outcomes compared with individuals without epilepsy. These findings identify children at risk for severe disease and can serve as comparator for future interventional studies in STXBP1-related disorders.


Asunto(s)
Epilepsia , Espasmos Infantiles , Niño , Preescolar , Humanos , Estudios Transversales , Proteínas Munc18/genética , Mutación , Estudios Retrospectivos , Convulsiones , Espasmo , Espasmos Infantiles/genética , Trastornos del Habla , Adulto
9.
medRxiv ; 2023 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-37425705

RESUMEN

Background and Objectives: Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset in the first year of life with a variety of seizure types, including epileptic spasms. However, the impact of early-onset seizures and anti-seizure medication (ASM) on the risk of developing epileptic spasms and impact on their trajectory is poorly understood, limiting informed and anticipatory treatment, as well as trial design. Methods: We retrospectively reconstructed seizure and medication histories in weekly intervals for individuals with STXBP1-related disorders with epilepsy onset in the first year of life and quantitatively analyzed longitudinal seizure histories and medication response. Results: We included 61 individuals with early onset seizures, 29 of whom had epileptic spasms. Individuals with neonatal seizures were likely to have continued seizures after the neonatal period (25/26). The risk of developing epileptic spasms was not increased in individuals with neonatal seizures or early infantile seizures (21/41 vs. 8/16; OR 1, 95% CI 0.3-3.9, p = 1). We did not find any ASM associated with the development of epileptic spasms following prior seizures. Individuals with prior seizures (n = 16/21, 76%) had a higher risk to develop refractory epileptic spasms (n = 5/8, 63%, OR =1.9, 95% CI 0.2-14.6, p = 0.6). Individuals with refractory epileptic spasms had a later onset of epileptic spasms (n = 20, median 20 weeks) compared to individuals with non-refractory epileptic spasms (n = 8, median 13 weeks; p = 0.08). When assessing treatment response, we found that clonazepam (n = 3, OR 12.6, 95% CI 2.2-509.4; p < 0.01), clobazam (n=7, OR 3, 95% CI 1.6-6.2; p < 0.01), topiramate (n=9, OR 2.3, 95% CI 1.4-3.9; p < 0.01), and levetiracetam (n=16, OR 1.7, 95% CI 1.2-2.4; p < 0.01) were more likely to reduce seizure frequency and/or to maintain seizure freedom with regards to epileptic spasms than other medications. Discussion: We provide a comprehensive assessment of early-onset seizures in STXBP1-related disorders and show that the risk of epileptic spasms is not increased following a prior history of early-life seizures, nor by certain ASM. Our study provides baseline information for targeted treatment and prognostication in early-life seizures in STXBP1-related disorders.

10.
medRxiv ; 2023 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-37215006

RESUMEN

STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, the longitudinal epilepsy course and developmental endpoints have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1,281 cumulative patient-years of seizure and developmental histories in 162 individuals with STXBP1-related disorders and established a natural history framework. STXBP1-related disorders are characterized by a dynamic pattern of seizures in the first year of life and high variability in neurodevelopmental trajectories in early childhood. Epilepsy onset differed across seizure types, with 90% cumulative onset for infantile spasms by 6 months and focal-onset seizures by 27 months of life. Epilepsy histories diverged between variant subgroups in the first 2 years of life, when individuals with protein-truncating variants and deletions in STXBP1 (n=39) were more likely to have infantile spasms between 5 and 6 months followed by seizure remission, while individuals with missense variants (n=30) had an increased risk for focal seizures and ongoing seizures after the first year. Developmental outcomes were mapped using milestone acquisition data in addition to standardized assessments including the Gross Motor Function Measure-66 Item Set and the Grasping and Visual-Motor Integration subsets of the Peabody Developmental Motor Scales. Quantification of endpoints revealed high variability during the first five years of life, with emerging stratification between clinical subgroups, most prominently between individuals with and without infantile spasms. We found that individuals with neonatal seizures or early infantile seizures followed by seizure offset by 12 months of life had more predictable seizure trajectories in early to late childhood than compared to individuals with more severe seizure presentations, including individuals with refractory epilepsy throughout the first year. Characterization of anti-seizure medication response revealed age-dependent response over time, with phenobarbital, levetiracetam, topiramate, and adrenocorticotropic hormone effective in reducing seizures in the first year of life, while clobazam and the ketogenic diet were effective in long-term seizure management. Virtual clinical trials using seizure frequency as the primary outcome resulted in wide range of trial success probabilities across the age span, with the highest probability in early childhood between 1 year and 3.5 years. In summary, we delineated epilepsy and developmental trajectories in STXBP1-related disorders using standardized measures, providing a foundation to interpret future therapeutic strategies and inform rational trial design.

11.
Front Neurol ; 14: 1161161, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37077567

RESUMEN

Introduction: Febrile infection-related epilepsy syndrome (FIRES) is a severe childhood epilepsy with refractory status epilepticus after a typically mild febrile infection. The etiology of FIRES is largely unknown, and outcomes in most individuals with FIRES are poor. Methods: Here, we reviewed the current state-of-the art genetic testing strategies in individuals with FIRES. We performed a systematic computational analysis to identify individuals with FIRES and characterize the clinical landscape using the Electronic Medical Records (EMR). Among 25 individuals with a confirmed FIRES diagnosis over the last decade, we performed a comprehensive review of genetic testing and other diagnostic testing. Results: Management included use of steroids and intravenous immunoglobulin (IVIG) in most individuals, with an increased use of immunomodulatory agents, including IVIG, plasma exchange (PLEX) and immunosuppressants such as cytokine inhibitors, and the ketogenic diet after 2014. Genetic testing was performed on a clinical basis in almost all individuals and was non-diagnostic in all patients. We compared FIRES with both status epilepticus (SE) and refractory status epilepticus (RSE) as a broader comparison cohort and identified genetic causes in 36% of patients with RSE. The difference in genetic signatures between FIRES and RSE suggest distinct underlying etiologies. In summary, despite the absence of any identifiable etiologies in FIRES, we performed an unbiased analysis of the clinical landscape, identifying a heterogeneous range of treatment strategies and characterized real-world clinical practice. Discussion: FIRES remains one of the most enigmatic conditions in child neurology without any known etiologies to date despite significant efforts in the field, suggesting a clear need for further studies and novel diagnostic and treatment approaches.

12.
JACC Case Rep ; 10: 101752, 2023 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-36974048

RESUMEN

Spontaneous coronary artery dissection is an uncommon cause of myocardial ischemia. Conservative management is the mainstay, although a few patients will require revascularization. We present a case of a 31-year-old woman whose extensive dissection necessitated coronary artery bypass grafting requiring an extended arteriotomy for excision of the thrombus and dissection flap. (Level of Difficulty: Advanced.).

13.
Curr Diab Rep ; 23(5): 59-67, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36961664

RESUMEN

PURPOSE OF REVIEW: With the rise in prevalence of youth-onset type 2 diabetes (T2DM), it is imperative to understand the clinical burden of the disease and the socioeconomic burden this disease imposes. We review the most recent data on youth-onset T2DM, including its pathophysiology, complications, and treatment. We also review existing data to determine the socioeconomic burden of youth-onset T2DM. RECENT FINDINGS: The incidence of youth-onset T2DM is rising, and significantly accelerated following the COVID-19 pandemic. Youth with T2DM are more frequently from families of racial/ethnic minorities and lower socioeconomic status. Youth-onset T2DM has more rapid disease progression compared to adult-onset type 2 diabetes. It results in earlier and more severe microvascular and macrovascular complications compared to both adult-onset T2DM and youth-onset type 1 diabetes (T1DM). While there is a lack of data describing the socioeconomic cost of youth-onset T2DM, based on extrapolation from analyses of the burden of T2DM in adults and T1DM in youth, we propose that youth-onset T2DM has higher direct and indirect costs than adult-onset T2DM. Youth-onset T2DM presents a significant clinical and socioeconomic burden due to its aggressive presentation and earlier appearance of complications. Additional research is needed regarding the cost of illness in this population.


Asunto(s)
COVID-19 , Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Adulto , Humanos , Adolescente , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 1/complicaciones , Pandemias , COVID-19/epidemiología , COVID-19/complicaciones , Clase Social
14.
Epilepsia Open ; 8(2): 320-333, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36625631

RESUMEN

OBJECTIVE: STXBP1-related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models are formal frameworks to assess the lived experience of individuals and their families and provide a basis for generating outcome measures. METHODS: We conducted semistructured, qualitative interviews with 19 caregivers of 16 individuals with STXBP1-related disorders and 7 healthcare professionals. We systematically coded themes using NVivo software and grouped concepts into the domains of symptoms, symptom impact, and caregiver impact. We quantified the frequency of concepts throughout the lifespan and across clinical subgroups stratified by seizure history and developmental trajectories. RESULTS: Over 25 hours of interviews, we coded a total of 3626 references to 38 distinct concepts. In addition to well-recognized clinical features such as developmental delay (n = 240 references), behavior (n = 201), and seizures (n = 147), we identified previously underrepresented symptoms including gastrointestinal (n = 68) and respiratory symptoms (n = 24) and pain (n = 30). The most frequently referenced symptom impacts were autonomy (n = 96), socialization (n = 64), and schooling (n = 61). Emotional impact (n = 354), support (n = 200), and daily life & activities (n = 108) were highly cited caregiver impacts. We found that seizures were more commonly referenced in infancy than in other age groups, while behavior and socialization were more likely to be referred to in childhood. We found that caregivers of individuals with ongoing seizures were less likely to reference developmental delay, possibly due to the relatively high impact of seizures. SIGNIFICANCE: STXBP1-related disorders are complex conditions affecting a wide range of clinical and social domains. We comprehensively mapped symptoms and their impact on families to generate a comprehensive disease model as a foundation for clinical endpoints in future trials.


Asunto(s)
Epilepsia , Trastornos del Neurodesarrollo , Humanos , Epilepsia/genética , Convulsiones/genética , Trastornos del Neurodesarrollo/genética , Cuidadores , Socialización , Proteínas Munc18/genética
15.
J Card Surg ; 37(12): 5451-5454, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36251267

RESUMEN

Redo cardiac surgery can present a unique set of challenges even to the experienced surgeon. Although outcomes have steadily improved in the modern era; if an intraoperative adverse event occurs, there is a 5% incidence of mortality and 19% incidence of myocardial infarction, stroke or death. Overall, the modern incidence of mortality at reoperation varies but be segregated into low and higher risk cohorts depending on the planning computed tomography imaging and risk to substernal structures on re-entry. Patients with ascending aortic or root pseudoaneurysms represent a particularly difficult subset of high-risk patients requiring reoperative cardiac surgery due to the danger of exsanguination and air embolization. The gold standard for management of such cases remains the use of deep hypothermic circulatory arrest (DHCA) to achieve safe re-entry in such cases however this can result in unpredictable DHCA duration depending on the degree of pericardial adhesions. We report a case of aortic pseudoaneurysm in a patient with patent coronary grafts managed using an endoballoon precisely positioned relative to the proximal anastomoses resulting in a safe surgical re-entry and shorter DHCA time.


Asunto(s)
Aneurisma Falso , Procedimientos Quirúrgicos Cardíacos , Humanos , Aneurisma Falso/etiología , Aneurisma Falso/cirugía , Resultado del Tratamiento , Aorta/cirugía , Procedimientos Quirúrgicos Cardíacos/métodos , Corazón , Estudios Retrospectivos , Reoperación
16.
JACC Case Rep ; 4(16): 1056-1059, 2022 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-36062049

RESUMEN

A 24-year-old man presented with a nonischemic cardiomyopathy of unknown etiology, apical aneurysm, and a secondary mitral regurgitation. Computer tomography-derived 3-dimensional model of the patient's heart was an essential step in guiding the surgical management for an optimal outcome. (Level of Difficulty: Advanced.).

17.
J Pediatr ; 251: 51-59.e2, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35985535

RESUMEN

OBJECTIVES: To evaluate the frequency and severity of new cases of youth-onset type 2 diabetes in the US during the first year of the pandemic compared with the mean of the previous 2 years. STUDY DESIGN: Multicenter (n = 24 centers), hospital-based, retrospective chart review. Youth aged ≤21 years with newly diagnosed type 2 diabetes between March 2018 and February 2021, body mass index ≥85th percentile, and negative pancreatic autoantibodies were included. Demographic and clinical data, including case numbers and frequency of metabolic decompensation, were compared between groups. RESULTS: A total of 3113 youth (mean [SD] 14.4 [2.4] years, 50.5% female, 40.4% Hispanic, 32.7% Black, 14.5% non-Hispanic White) were assessed. New cases of type 2 diabetes increased by 77.2% in the year during the pandemic (n = 1463) compared with the mean of the previous 2 years, 2019 (n = 886) and 2018 (n = 765). The likelihood of presenting with metabolic decompensation and severe diabetic ketoacidosis also increased significantly during the pandemic. CONCLUSIONS: The burden of newly diagnosed youth-onset type 2 diabetes increased significantly during the coronavirus disease 2019 pandemic, resulting in enormous strain on pediatric diabetes health care providers, patients, and families. Whether the increase was caused by coronavirus disease 2019 infection, or just associated with environmental changes and stressors during the pandemic is unclear. Further studies are needed to determine whether this rise is limited to the US and whether it will persist over time.


Asunto(s)
COVID-19 , Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Cetoacidosis Diabética , Niño , Adolescente , Humanos , Femenino , Masculino , Pandemias , COVID-19/epidemiología , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 2/complicaciones , Estudios Retrospectivos , Cetoacidosis Diabética/complicaciones
18.
Acta Diabetol ; 59(7): 939-947, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35445345

RESUMEN

AIMS: Interleukin-9 (IL-9) attenuates podocyte injury in experimental kidney disease, but its role in diabetic nephropathy is unknown. We sought to relate urinary IL-9 levels to the release of podocyte-derived extracellular vesicles (EVs) in youth with type 1 diabetes. We related urinary IL-9 levels to clinical variables and studied interactions between urinary IL-9, vascular endothelial growth factor (VEGF), tumor necrosis factor alpha (TNFα) and interleukin-6 (IL-6) on urinary albumin/creatinine ratio (ACR) a functional measure of podocyte injury. METHODS: We performed an analysis of urine samples and clinical data from a cohort of youth with type 1 diabetes (n = 53). Cytokines were measured using a Luminex platform (Eve Technologies), and nanoscale flow cytometry was employed to quantify urinary podocyte-derived EVs. All urinary measures were normalized to urinary creatinine. RESULTS: Mean age was 14.7 ± 1.6 years, and the mean time from diagnosis was 6.7 ± 2.9 years. Mean HbA1c was 70.3 ± 13.9 mmol/mol, mean ACR was 1.3 ± 1.9 mg/mmol, and mean eGFR was 140.3 ± 32.6 ml/min/1.73 m2. IL-9 was inversely related to podocyte EVs (r = - 0.56, p = 0.003). IL-9 was also inversely related to blood glucose, HbA1C and eGFR (r = - 0.44, p = 0.002; r = - 0.41, p = 0.003; r = - 0.49, p < 0.001, respectively) and positively correlated with systolic BP (r = 0.30, p = 0.04). There was a significant interaction between IL-9, EVs and ACR (p = 0.0143), and the relationship between IL-9 and ACR depended on VEGF (p = 0.0083), TNFα (p = 0.0231) and IL-6 levels (p = 0.0178). CONCLUSIONS: IL-9 is associated with podocyte injury in early type 1 diabetes, and there are complex interactions between urinary IL-9, inflammatory cytokines and ACR.


Asunto(s)
Diabetes Mellitus Tipo 1 , Nefropatías Diabéticas , Interleucina-6 , Interleucina-9 , Adolescente , Albuminuria/orina , Biomarcadores/orina , Creatinina/orina , Citocinas/orina , Diabetes Mellitus Tipo 1/orina , Nefropatías Diabéticas/orina , Hemoglobina Glucada , Humanos , Interleucina-6/orina , Interleucina-9/orina , Factor de Necrosis Tumoral alfa/orina , Factor A de Crecimiento Endotelial Vascular/orina
19.
Eur Eat Disord Rev ; 30(6): 815-822, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35474597

RESUMEN

OBJECTIVE: Loss-of-control (LOC) eating is associated with eating disorders and obesity, and thus it is imperative to understand its momentary risk factors in order to improve intervention efforts. Negative affect has been proposed as a momentary risk factor for LOC eating, but the evidence for its effects in children and adolescents is mixed. Short sleep duration (which is very common in youth), may be one variable that moderates the relation between negative affect and subsequent LOC eating. As such, we aimed to examine the moderating role of within-person sleep duration on the momentary relations between negative affect and subsequent LOC eating. METHOD: We recruited children (N = 30) with overweight/obesity ages 8-14, who completed a 2-week ecological momentary assessment protocol assessing negative affect and LOC eating several times per day, while also wearing a sleep actigraphy device and completing sleep diaries. RESULTS: Consistent with hypotheses, within-person sleep duration moderated the next-day momentary relation between within-person negative affect and LOC eating, such that shorter sleep duration strengthened the positive relation between negative affect and loss-of-control eating. CONCLUSIONS: Results suggest that, in children and adolescents, fluctuations in sleep duration may influence susceptibility to losing control over eating after experiencing negative affect. Future research should further investigate other metrics of sleep disturbance as they relate to emotion regulation and LOC eating. Such research will set the stage for augmenting paediatric interventions to better target maintenance factors for LOC eating.


Asunto(s)
Conducta Alimentaria , Sobrepeso , Adolescente , Afecto/fisiología , Niño , Conducta Alimentaria/psicología , Humanos , Hiperfagia/psicología , Obesidad/psicología , Sobrepeso/psicología , Sueño
20.
Ir J Med Sci ; 191(2): 699-704, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33822313

RESUMEN

BACKGROUND: We have entered an era of renewed interest in novel approaches to surgical intervention and minimally invasive and transcatheter technique. With an aging population, isolated tricuspid valve regurgitation incidence is rising; however, referral for surgical intervention remains low. AIMS: We undertook this retrospective review to assess outcomes and challenges associated with tricuspid valve intervention. METHODS: A comprehensive retrospective review of all patients undergoing tricuspid valve intervention in our institution between 2004 and 2018 was carried out. RESULTS: A total of 259 patients who underwent a tricuspid intervention between 2004 and 2018 were identified. Of those, 229 underwent a repair and 30 underwent a replacement. Median survival for repair was 3124 days, and replacement was 2294 days. In-patient mortality was 12% for those undergoing repair and 7% for the replacement patients. Of those undergoing redo tricuspid valve intervention, eight patients (61.5%) were alive at most recent follow-up. Eight patients required intraoperative pacemakers, 2 required postoperative pacemakers. Of those who had intraoperative epicardial pacing systems placed, 5 of the 8 remained pacing dependent on most recent follow up. CONCLUSION: Beyond technical challenges, decision making regarding pacemaker requirement requires further exploration. Redo tricuspid valve surgery carries a significant mortality risk and consideration should be given to earlier intervention in this context.


Asunto(s)
Procedimientos Quirúrgicos Cardíacos , Implantación de Prótesis de Válvulas Cardíacas , Marcapaso Artificial , Insuficiencia de la Válvula Tricúspide , Anciano , Implantación de Prótesis de Válvulas Cardíacas/métodos , Humanos , Estudios Retrospectivos , Resultado del Tratamiento , Válvula Tricúspide/cirugía , Insuficiencia de la Válvula Tricúspide/etiología , Insuficiencia de la Válvula Tricúspide/cirugía
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