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1.
Prenat Diagn ; 44(5): 586-594, 2024 05.
Artículo en Inglés | MEDLINE | ID: mdl-38558419

RESUMEN

OBJECTIVES: To investigate the prenatal detection rate of mosaicism by SNP microarray analysis, in which an individual has not one, but two, complete genomes (sets of DNA) in their body, a normal biparental line with a Genome Wide Uniparental Disomy (GWUPD) cell line was used. METHODS: This study retrospectively examines the prenatal detection of GWUPD in a cohort of ∼90,000 prenatal specimens and ∼20,000 products of conceptions (POCs) that were studied by SNP microarray. RESULTS: In total, 25 cases of GWUPD were detected; 16 cases were detected prenatally with GWUPD (∼0.018%) and 9 POCs revealed GWUPD (0.045%). The nine POC specimens presented with placental abnormalities. The 12 amniotic fluid specimens were ascertained because of abnormal ultrasound findings. Nine of 12 pregnancies had findings consistent with Beckwith-Wiedemann syndrome or because of abnormal placentas. However, three pregnancies were detected with GWUPD of maternal origin, with less common findings and demonstrated maternal origin. Four other pregnancies showed GWUPD in a chorionic villus sample, but normal findings in amniotic fluid and apparently normal fetal development. CONCLUSIONS: This cohort with GWUPD mosaicism expands our understanding of GWUPD and has implications for prenatal care and counseling. Additional studies are necessary to understand the rarer maternal GWUPD.


Asunto(s)
Mosaicismo , Diagnóstico Prenatal , Disomía Uniparental , Humanos , Femenino , Mosaicismo/embriología , Disomía Uniparental/diagnóstico , Disomía Uniparental/genética , Embarazo , Estudios Retrospectivos , Adulto , Diagnóstico Prenatal/métodos , Polimorfismo de Nucleótido Simple , Estudios de Cohortes
2.
J Surg Oncol ; 122(2): 128-133, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32334441

RESUMEN

INTRODUCTION: In women with T1-2 breast cancer and one to two positive axillary lymph nodes (LN) at low risk for recurrence, postmastectomy radiation therapy (PMRT) may provide insufficient benefit to justify its toxicity. This study evaluated the interaction of factors associated with overall survival (OS) after PMRT in these patients. METHODS: The National Cancer Database was queried for women with T1-2 breast cancer undergoing mastectomy with one to two positive LN identified on lymphadenectomy. Patients were grouped according to number of positive LN and then stratified by PMRT use. Differences in OS were evaluated. RESULTS: Multivariable modeling demonstrated an interaction effect of age on the efficacy of PMRT. In patients more than or equal to 60 years old, PMRT was associated with improved survival when adjusting for age and tumor grade in patients with 1 to 2 positive LN (risk ratio = 0.62, 95% confidence interval = 0.40-0.93, P = .018). In patients less than 60 years old, tumor size and grade, but not PMRT, were associated with improved OS. CONCLUSION: For women with T1-2 breast cancer and one to two positive LN, PMRT's association with OS is influenced by age, tumor grade, and number of positive LN. PMRT appears to be associated with improvements in OS in older patients, but not younger patients, regardless of tumor size or nodal status.


Asunto(s)
Neoplasias de la Mama/patología , Neoplasias de la Mama/radioterapia , Neoplasias de la Mama/mortalidad , Neoplasias de la Mama/cirugía , Bases de Datos Factuales , Femenino , Humanos , Escisión del Ganglio Linfático/métodos , Escisión del Ganglio Linfático/estadística & datos numéricos , Ganglios Linfáticos/patología , Ganglios Linfáticos/cirugía , Metástasis Linfática , Mastectomía/métodos , Mastectomía/estadística & datos numéricos , Persona de Mediana Edad , Análisis Multivariante , Estadificación de Neoplasias , Cuidados Posoperatorios/métodos , Cuidados Posoperatorios/estadística & datos numéricos , Análisis de Supervivencia , Estados Unidos/epidemiología
3.
IEEE J Solid-State Circuits ; 55(11): 2947-2958, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33281206

RESUMEN

This paper presents a millimeter-scale CMOS 64×64 single charged particle radiation detector system for external beam cancer radiotherapy. A 1×1 µm2 diode measures energy deposition by a single charged particle in the depletion region, and the array design provides a large detection area of 512×512 µm2. Instead of sensing the voltage drop caused by radiation, the proposed system measures the pulse width, i.e., the time it takes for the voltage to return to its baseline. This obviates the need for using power-hungry and large analog-to-digital converters. A prototype ASIC is fabricated in TSMC 65 nm LP CMOS process and consumes the average static power of 0.535 mW under 1.2 V analog and digital power supply. The functionality of the whole system is successfully verified in a clinical 67.5 MeV proton beam setting. To our' knowledge, this is the first work to demonstrate single charged particle detection for implantable in-vivo dosimetry.

4.
Am J Med Genet A ; 173(9): 2528-2533, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28653809

RESUMEN

Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicism, but there are also reports associated with multiple congenital anomalies, cardiovascular malformations, and intrauterine growth restriction. We report an infant male diagnosed with mosaic trisomy 5 (5/15 cells) via amniocentesis. The patient was subsequently found to have uniparental disomy 5 (UPD5) by postnatal chromosome microarray, but high-resolution chromosome analysis on peripheral blood did not identify trisomy 5. Dysmorphic features included a tall forehead with low anterior hairline, hypertelorism, low-set ears, and a prominent nose and midface. Other anomalies included bilateral bifid thumbs, hypospadias, a perineal fistula, unilateral multicystic kidney, and decreased subcutaneous fat with loose skin. He had complex congenital heart disease consisting of ventricular and atrial septal defects and polyvalvular defects. The patient died at age one after a prolonged admission. We add this case to the literature with the added benefit of data from a postnatal microarray, which was not available in other cases, to broaden the phenotype of mosaic trisomy 5 and UPD5.With the current available technology, we stress the importance of postnatal genetic testing to confirm prenatal cytogenetic findings in order to further define such phenotypes. This will provide the most accurate information and counseling to affected families.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Síndrome del Maullido del Gato/diagnóstico , Trisomía/diagnóstico , Disomía Uniparental/genética , Anomalías Múltiples/fisiopatología , Cromosomas Humanos Par 5/genética , Síndrome del Maullido del Gato/genética , Síndrome del Maullido del Gato/fisiopatología , Humanos , Lactante , Masculino , Análisis por Micromatrices , Mosaicismo , Diagnóstico Prenatal , Trisomía/genética , Trisomía/fisiopatología , Disomía Uniparental/diagnóstico , Disomía Uniparental/fisiopatología
5.
Pediatr Res ; 80(3): 371-81, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27119313

RESUMEN

BACKGROUND: The pathogenicity of copy number variations (CNV) in neurodevelopmental disorders is supported by research literature. However, few studies have evaluated the utility and counseling challenges of CNV analysis in clinic. METHODS: We analyzed the findings of CNV studies from a cohort referred for genetics evaluation of autism spectrum disorders (ASD), developmental disability (DD), and intellectual disability (ID). RESULTS: Twenty-two CNV in 21 out of 115 probands are considered to be pathogenic (18.3%). Five CNV are likely pathogenic and 22 CNV are variants of unknown significance (VUS). We have found seven cases with more than two CNV and two with a complex rearrangement of the 22q13.3 Phelan-McDermid syndrome region. We identified a new and de novo 1q21.3 deletion that encompasses SETDB1, a gene encoding methylates histone H3 on lysine-9 (H3K9) methyltransferase, in a case with ASD. CONCLUSION: We provide evidence to support the value of CNV analysis in etiological evaluation of neurodevelopmental disorders in autism genetics clinic. However, interpretation of the clinical significance and counseling families are still challenging because of the variable penetrance and pleotropic expressivity of CNV. In addition, the identification of a 1q21.3 deletion encompassing SETDB1 provides further support for the role of chromatin modifiers in the etiology of ASD.


Asunto(s)
Análisis por Micromatrices , Trastornos del Neurodesarrollo/genética , Proteína Metiltransferasas/genética , Adolescente , Algoritmos , Trastorno Autístico/genética , Niño , Preescolar , Cromatina/metabolismo , Hibridación Genómica Comparativa , Consejo , Variaciones en el Número de Copia de ADN , Discapacidades del Desarrollo/genética , Femenino , Eliminación de Gen , Reordenamiento Génico , N-Metiltransferasa de Histona-Lisina , Humanos , Lactante , Discapacidad Intelectual/genética , Masculino , Linaje
6.
Am J Med Genet A ; 161A(4): 822-8, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23495222

RESUMEN

Individuals with isolated terminal deletions of 8p have been well described in the literature, however, molecular characterization, particularly by microarray, of the deletion in most instances is lacking. The phenotype of such individuals falls primarily into two categories: those with cardiac defects, and those without. The architecture of 8p has been demonstrated to contain two inversely oriented segmental duplications at 8p23.1, flanking the gene, GATA4. Haploinsufficiency of this gene has been implicated in cardiac defects seen in numerous individuals with terminal 8p deletion. Current microarray technologies allow for the precise elucidation of the size and gene content of the deleted region. We present three individuals with isolated terminal deletion of 8p distal to the segmental duplication telomeric to GATA4. These individuals present with a relatively mild and nonspecific phenotype including mildly dysmorphic features, developmental delay, speech delay, and early behavior issues.


Asunto(s)
Deleción Cromosómica , Cardiopatías Congénitas/genética , Fenotipo , Anomalías Múltiples/genética , Adulto , Preescolar , Cromosomas Humanos Par 8 , Facies , Femenino , Factor de Transcripción GATA4/genética , Estudio de Asociación del Genoma Completo , Cardiopatías Congénitas/diagnóstico , Humanos , Masculino , Repeticiones de Microsatélite , Polimorfismo de Nucleótido Simple , Interfaz Usuario-Computador
7.
Intern Med J ; 43(3): 234-9, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23176315

RESUMEN

BACKGROUND/AIM: To determine short- and long-term outcomes among a cohort of patients with variceal haemorrhage at a tertiary referral centre, and to determine the predictive value of the model for end-stage liver disease (MELD) score for mortality in these patients. METHODS: Prospective database hospital audit that captured patients who presented with or were transferred with variceal haemorrhage between 2004 and 2008, and a retrospective review of long-term outcomes. Patients who presented to or were transferred to John Hunter Hospital, a tertiary referral hospital, with confirmed variceal bleeding were included. The main outcome measures were in-hospital, 6 weeks and end-of-audit mortality. We also recorded cause, location and degree of planning surrounding the deaths in this patient group. We analysed the MELD score for patients with complete survival data. RESULTS: We recorded 93 episodes of variceal haemorrhage from 78 unique patients during the initial study period. The in-hospital mortality, 6 weeks mortality and end-of-audit mortality were 2.6, 9.0 and 59, respectively, and median survival time was 3.2 years (95% confidence interval 0.0, 6.1). The most frequent cause of death was related to complications of end-stage liver disease at 74%, followed by variceal bleeding (19%) and unknown (6%). A Cox proportional hazard model showed that the risk of mortality is increased by 1.06 (1.01-1.11) for each unit increase in MELD score. CONCLUSIONS: Short-term outcomes for patients with variceal bleeding continue to improve, but long-term prognosis remains guarded and should prompt further emphasis on advanced care planning to optimise patient care.


Asunto(s)
Várices Esofágicas y Gástricas/diagnóstico , Várices Esofágicas y Gástricas/epidemiología , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/epidemiología , Centros de Atención Terciaria/tendencias , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Várices Esofágicas y Gástricas/terapia , Femenino , Hemorragia Gastrointestinal/terapia , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Resultado del Tratamiento , Adulto Joven
8.
Int J Clin Pediatr Dent ; 16(1): 159-161, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37020785

RESUMEN

Introduction: Dental caries has been the most common disease affecting the human population. Once cavitated, the disease requires restoration. Dental adhesives used to bond composite resins to tooth structure have evolved over the last several decades. Composites were developed to meet the requirements of durable esthetics restorative material. The process of bonding occurred due to micromechanical interlocking between hydroxyapatite of enamel and resin. Over a period of time, bonding to enamel has become a reliable procedure. However, bonding to dentin has proven to be less predictable. In order to overcome the challenges, dental adhesive systems have evolved through several generations with changes in chemistry, mechanism, number of bottles, application techniques, and clinical effectiveness. Case details: The "self-etch" system is especially attractive to pediatric dentistry because of its "fewer steps" and "lesser time." One product launched as a self-etching self-adhesive flowable composite Constic (DMG, Germany), a new three- in -one flowable composite that combines etching gel, bonding agent, and flowable composite in one single product which has multiple benefits over conventional products. Such a material can be of true advantage as it allows for single-step application, less technique sensitivity, and reduced chair time. In light of this knowledge, this paper will focus on two commonly performed procedures in the general practitioner's office, that is, the placement of small class I composite resin restorations and the placement of pit and fissure sealants on permanent molars in pediatric patients. Clinical significance: The advantage of this material is less technique sensitivity and reduced chair time. How to cite this article: Pruthi T, Pandit IK, Gugnani N, et al. Bonding Technologies in Young Permanent Molars: A Case Series. Int J Clin Pediatr Dent 2023;16(1):159-161.

9.
Int J Clin Pediatr Dent ; 15(5): 584-590, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36865725

RESUMEN

Background/aim: Due to its frequency, early occurrence, and severe adverse effects, if untreated, traumatic dental injury (TDI) is a public dental health issue. The purpose of this study was to investigate the prevalence of dental injuries caused by trauma in the anterior teeth among schoolchildren of Yamunanagar (Haryana), Northern India. Materials and methods: A sample of 11,897 schoolchildren in the age-group of 8-12 years from 36 urban/rural schools was examined for TDI using Ellis and Davey classification. Children with TDI were interviewed using a structured questionnaire and presented with validated motivational videos to educate them about dental trauma, the sequelae of unmet treatment, and to motivate them to undergo treatment. The subjects with trauma were reevaluated after 6 months to assess the percentage of subjects who have undergone treatment after motivation. Result and conclusion: The overall prevalence of children afflicted with TDI was 6.33%. Statistically, a significant difference of p ≤ 0.001 was noted between the percentage of boys (7.29%) and girls (4.8%) experiencing TDI. Maxillary incisors (94.3%) were the most commonly injured teeth. Falls in the playground (37.70%) were the major cause; on reevaluation, only 9.26% of the study population got their traumatized tooth treated. TDI is an existing dental problem. Motivating children at schools was found to be ineffective. There is a need to educate the parents and teachers to take appropriate preventive measures. How to cite this article: Singh B, Pandit IK, Gugnani N, et al. Anterior Dental Injuries in 8-12-year-old Schoolchildren of Yamunanagar, Northern India: A Districtwide Oral Health Survey. Int J Clin Pediatr Dent 2022;15(5):584-590.

10.
Hum Genet ; 130(4): 517-28, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21359847

RESUMEN

The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1-BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the distal BP3 breakpoint. The larger Type I deletions are flanked by BP1 and BP3 in both Prader-Willi and Angelman syndrome subjects. Those with this deletion are reported to have a more severe phenotype than individuals with either Type II deletions (BP2-BP3) or uniparental disomy 15. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes that are not imprinted. Reports of mutations or disturbed expression of these genes appear to impact behavioral and neurological function in affected individuals. Recently, reports of deletions and duplications flanked by BP1 and BP2 suggest an association with speech and motor delays, behavioral problems, seizures, and autism. We present a large cohort of subjects with copy number alteration of BP1 to BP2 with common phenotypic features. These include autism, developmental delay, motor and language delays, and behavioral problems, which were present in both cytogenetic groups. Parental studies demonstrated phenotypically normal carriers in several instances, and mildly affected carriers in others, complicating phenotypic association and/or causality. Possible explanations for these results include reduced penetrance, altered gene dosage on a particular genetic background, or a susceptibility region as reported for other areas of the genome implicated in autism and behavior disturbances.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Deleción Cromosómica , Cromosomas Humanos Par 15/genética , Discapacidades del Desarrollo/genética , Duplicación de Gen , Trastornos del Desarrollo del Lenguaje/genética , Trastornos Mentales/genética , Adolescente , Adulto , Síndrome de Angelman/genética , Trastorno Autístico/genética , Biomarcadores/metabolismo , Niño , Preescolar , Trastornos de los Cromosomas , Hibridación Genómica Comparativa , Susceptibilidad a Enfermedades , Femenino , Perfilación de la Expresión Génica , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Análisis de Secuencia por Matrices de Oligonucleótidos , Trastornos del Habla/genética , Adulto Joven
11.
Intern Med J ; 41(8): 605-9, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21040320

RESUMEN

BACKGROUND: Peptic ulcer disease risk factors have changed, as has the impact of treatment on morbidity and mortality. Recent data on clinical presentation and outcome are sparse in Australia. AIM: To determine the characteristics and outcome of patients presenting with a bleeding peptic ulcer to a tertiary referral centre. METHODS: We evaluated patients diagnosed with peptic ulcer bleeding between 2004 and 2008 at a tertiary referral hospital. Variables assessed included demographic data, comorbidities, medication use and Rockall score. Outcomes of interest were the time to endoscopy, peptic ulcer treatment, transfusion requirements, urgent surgery and survival. RESULTS: Peptic ulcers were confirmed in 265 patients (55% male), of which 145 were gastric and 119 duodenal. The mean age was 71 years. On admission 38% of patients had haemodynamic instability and 92% had one or more comorbidity. Consumption of ulcerogenic medications at the time of admission was frequent (non-steroidal anti-inflammatory drugs (NSAIDs) 22%, aspirin 41%, clopidogrel or warfarin 10%) and proton pump inhibitors infrequent (15%). A gastroenterologist managed all patients according to their usual practice. Only a minority of patients received over three units of packed red cells. Few patients were referred for surgery (3%) or died (3%), but both events were significantly higher for the duodenal ulcer group. CONCLUSION: The characteristics and outcomes in patients with peptic ulcer bleeding have changed. Peptic ulcer disease remains a public health problem with modifiable risk factors, such as Helicobacter pylori infection and NSAIDs, which should be targeted to reduce the burden of illness.


Asunto(s)
Úlcera Péptica Hemorrágica/epidemiología , Úlcera Péptica Hemorrágica/terapia , Úlcera Péptica/epidemiología , Úlcera Péptica/terapia , Adulto , Anciano , Anciano de 80 o más Años , Antiinflamatorios no Esteroideos/efectos adversos , Endoscopía Gastrointestinal/tendencias , Femenino , Infecciones por Helicobacter/complicaciones , Infecciones por Helicobacter/epidemiología , Hospitalización/tendencias , Humanos , Masculino , Persona de Mediana Edad , Nueva Gales del Sur/epidemiología , Úlcera Péptica/etiología , Úlcera Péptica Hemorrágica/etiología , Estudios Prospectivos , Inhibidores de la Bomba de Protones/uso terapéutico , Factores de Riesgo , Resultado del Tratamiento
12.
Med Phys ; 37(10): 5199-207, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21089753

RESUMEN

PURPOSE: The purpose of this study is to evaluate a novel approach for treatment planning using digital fundus image fusion in EYEPLAN for proton beam radiation therapy (PBRT) planning for ocular melanoma. The authors used a prototype version of EYEPLAN software, which allows for digital registration of high-resolution fundus photographs. The authors examined the improvement in tumor localization by replanning with the addition of fundus photo superimposition in patients with macular area tumors. METHODS: The new version of EYEPLAN (v3.05) software allows for the registration of fundus photographs as a background image. This is then used in conjunction with clinical examination, tantalum marker clips, surgeon's mapping, and ultrasound to draw the tumor contour accurately. In order to determine if the fundus image superimposition helps in tumor delineation and treatment planning, the authors identified 79 patients with choroidal melanoma in the macular location that were treated with PBRT. All patients were treated to a dose of 56 GyE in four fractions. The authors reviewed and replanned all 79 macular melanoma cases with superimposition of pretreatment and post-treatment fundus imaging in the new EYEPLAN software. For patients with no local failure, the authors analyzed whether fundus photograph fusion accurately depicted and confirmed tumor volumes as outlined in the original treatment plan. For patients with local failure, the authors determined whether the addition of the fundus photograph might have benefited in terms of more accurate tumor volume delineation. RESULTS: The mean follow-up of patients was 33.6 +/- 23 months. Tumor growth was seen in six eyes of the 79 macular lesions. All six patients were marginal failures or tumor miss in the region of dose fall-off, including one patient with both in-field recurrence as well as marginal. Among the six recurrences, three were managed by enucleation and one underwent retreatment with proton therapy. Three patients developed distant metastasis and all three patients have since died. The replanning of six patients with their original fundus photograph superimposed showed that in four cases, the treatment field adequately covered the tumor volume. In the other two patients, the overlaid fundus photographs indicated the area of marginal miss. The replanning with the fundus photograph showed improved tumor coverage in these two macular lesions. For the remaining patients without local failure, replanning with fundus photograph superimposition confirmed the tumor volume as drawn in the original treatment plan. CONCLUSIONS: Local control was excellent in patients receiving 56 GyE of PBRT for uveal melanomas in the macular region, which traditionally can be more difficult to control. Posterior lesions are better defined with the additional use of fundus image since they can be difficult to mark surgically. In one-third of treatment failing patients, the superposition of the fundus photograph would have clearly allowed improved localization of tumor. The current practice standard is to use the superimposition of the fundus photograph in addition to the surgeon's clinical and clip mapping of the tumor and ultrasound measurement to draw the tumor volume.


Asunto(s)
Neoplasias de la Coroides/patología , Neoplasias de la Coroides/radioterapia , Fondo de Ojo , Melanoma/patología , Melanoma/radioterapia , Planificación de la Radioterapia Asistida por Computador/estadística & datos numéricos , Programas Informáticos , Adulto , Anciano , Anciano de 80 o más Años , Fenómenos Biofísicos , Femenino , Angiografía con Fluoresceína , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/radioterapia , Terapia de Protones , Adulto Joven
13.
Am J Ophthalmol Case Rep ; 19: 100787, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32760850

RESUMEN

PURPOSE: To describe the first series of six young uveal melanoma (UM) patients with oral isotretinoin and/or topical retinoid therapy prior to diagnosis. OBSERVATIONS: The case series is based on clinical observations at our UM quaternary referral center. Six UM patient cases are reported, ages 16-44 years old. All had been using either oral (isotretinoin) and/or topical (tretinoin or tazarotene) retinoid treatment (3 months-~10 years) prior to or at the time of diagnosis (3 of 6 cases). All patients had ocular complaints on presentation, and the onset of certain symptoms corresponded with the course of retinoids. Other potential risk factors or relevant history included Caucasian background, cone-rod dystrophy and active smoker status (Case 2), family history of UM and pregnancy at time of diagnosis (Case 3), past smoking and possible secondary Chernobyl exposure as a baby (Case 5). All patients were treated with proton beam radiotherapy and currently have no sign of recurrent or metastatic disease. CONCLUSIONS AND IMPORTANCE: Retinoid therapy has been linked to various benign and/or reversible effects on the anterior and posterior eye, though pathophysiology remains not well understood. Uveal melanoma (UM) is a rare cancer diagnosis in young adults. We report here the first case series of young UM patients with a history of retinoid use and ocular complaints. No causal link is claimed and further systematic epidemiologic and biologic study of retinoid therapy and ocular impact may provide additional relevant data, particularly in young ocular melanoma patients.

14.
Adv Radiat Oncol ; 5(4): 682-686, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32337386

RESUMEN

Uveal melanoma (UM) is a rare but life-threatening cancer of the eye. In light of the coronavirus disease (COVID-19) pandemic, hospitals and proton eye therapy facilities must analyze several factors to ensure appropriate treatment protocols for patients and provider teams. Practice considerations to limit COVID-19 transmission in the proton ocular treatment setting for UM are necessary. The Particle Therapy Co-Operative Group is the largest international community of particle/proton therapy providers. Participating experts have current or former affiliation with the member institutions of the Particle Therapy Co-Operative Group Ocular subcommittee with long-standing high-volume proton ocular programs. The practices reviewed in this document must be taken in conjunction with local hospital procedures, multidisciplinary recommendations, and regional/national guidelines, as each community may have its unique needs, supplies, and protocols. Importantly, as the pandemic evolves, so will the strategies and recommendations. Given the unique circumstances for UM patients, along with indications of potential ophthalmologic transmission as a result of health care providers working in close proximity to patients and intrinsic infectious risk from eyelashes, tears, and hair, practice strategies may be adapted to reduce the risk of viral transmission. Certainly, providers and health care systems will continue to examine and provide as safe and effective care as possible for patients in the current environment.

15.
Eye (Lond) ; 33(12): 1904-1910, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31278380

RESUMEN

BACKGROUND/OBJECTIVE: The success of proton beam treatment (PBT) in uveal melanoma depends in part on the accuracy of tumour localisation. This study determined if using ultrasonography (US) to measure the distance between tumour margin and tantalum ring (DTR) in PBT planning improves local treatment success when compared with using intraoperative transillumination (TI) alone. METHODS: Retrospective analysis of patients with uveal melanoma treated at one centre between January 2006 and June 2017 with ≥12-month follow-up (or until treatment failure). Local tumour control was compared among study groups based on methods for measuring DTR: Group 1 (TI alone), Group 2A (postoperative US alone) and Group 2B (combination). RESULTS: Fifty-four eyes (54 patients) with uveal melanomas were included: Group 1 (22 eyes, 41%), Group 2A (11 eyes, 20%) and Group 2B (21 eyes, 39%). Mean age at diagnosis was 64 years [median 66 years, range 23-86 years]. Fifty tumours (93%) involved the choroid, while four involved the ciliary body (7%). In Group 2B, PBT treatment was based on the DTR obtained using US; DTR differed between TI and US by ≥1 mm for 25 rings in 16 eyes and ≥2 mm for 12 rings in 7 eyes. Five-year Kaplan-Meier estimate revealed a difference in local treatment success between Groups 1 and 2, (0.82 vs. 1.0, p = 0.02) with no difference in overall survival estimate, (0.85 vs. 0.83, p = 0.8). CONCLUSIONS: US can be used to measure DTR in PBT planning for uveal melanoma. This may improve accuracy of tumour localisation and improve local treatment success.


Asunto(s)
Melanoma/radioterapia , Transiluminación/métodos , Ultrasonografía/métodos , Úvea/diagnóstico por imagen , Neoplasias de la Úvea/radioterapia , Agudeza Visual , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Humanos , Masculino , Melanoma/diagnóstico , Persona de Mediana Edad , Terapia de Protones/métodos , Estudios Retrospectivos , Resultado del Tratamiento , Úvea/efectos de la radiación , Neoplasias de la Úvea/diagnóstico , Adulto Joven
16.
ACS Appl Mater Interfaces ; 11(51): 48212-48220, 2019 Dec 26.
Artículo en Inglés | MEDLINE | ID: mdl-31829543

RESUMEN

Discovery of plasmon resonance and negative permittivity in carbon allotropes at much lower frequencies than those of metals has evoked interest to develop random metacomposites by suitable means of addition of these dispersoids in an overall dielectric matrix. Random metacomposites have always the advantage for their easy preparation techniques over those of their regular arrayed artificial counterpart. However, thermal management during the heat generation by electromagnetic attenuation in metamaterials is not yet studied well. The present communication discusses the dielectric permittivities and loss parameters of aluminum nitride-single-wall carbon nanotube (AlN-SWCNT) composites considering high thermal conductivities of both materials. The composites are dense and have been prepared by a standard powder technological method using hot pressing at 1850 °C under a nitrogen atmosphere. Increase in the negative permittivity value with SWCNT concentration (1, 3, and 6 vol %) in the composites had been observed at low frequencies. Characterization of the materials with Fourier transform infrared (FTIR) spectroscopy, X-ray photoelectron spectroscopy (XPS), Raman spectroscopy, and microstructure analysis by scanning and transmission electron microscopy (TEM) revealed the survivability of the SWCNTs and the nature of the matrix-filler interface. Plasmonic resonance following Drude's law could be observed at much lower plasma frequencies than that of pure SWCNT and for very little SWCNT addition. Exhibition of the negative permittivity has been explained with relation to the microstructure of the composites observed from field emission scanning electron micrographs (FESEM), TEM images, and the equivalent circuit model. High energy conversion efficiency is expected in these composites due to the possession of dual functionalities like high thermal conductivity as well as high negative permittivity, which should ensure the application of these materials in wave filter, cloaking device, supercapacitors, and wireless communication.

17.
Epidemiol Psychiatr Sci ; 27(5): 500-509, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-28367772

RESUMEN

AIMS: Rural and remote regions tend to be characterised by poorer socioeconomic conditions than urban areas, yet findings regarding differences in mental health between rural and urban areas have been inconsistent. This suggests that other features of these areas may reduce the impact of hardship on mental health. Little research has explored the relationship of financial hardship or deprivation with mental health across geographical areas. METHODS: Data were analysed from a large longitudinal Australian study of the mental health of individuals living in regional and remote communities. Financial hardship was measured using items from previous Australian national population research, along with measures of psychological distress (Kessler-10), social networks/support and community characteristics/locality, including rurality/remoteness (inner regional; outer regional; remote/very remote). Multilevel logistic regression modelling was used to examine the relationship between hardship, locality and distress. Supplementary analysis was undertaken using Australian Household, Income and Labour Dynamics in Australia (HILDA) Survey data. RESULTS: 2161 respondents from the Australian Rural Mental Health Study (1879 households) completed a baseline survey with 26% from remote or very remote regions. A significant association was detected between the number of hardship items and psychological distress in regional areas. Living in a remote location was associated with a lower number of hardships, lower risk of any hardship and lower risk of reporting three of the seven individual hardship items. Increasing hardship was associated with no change in distress for those living in remote areas. Respondents from remote areas were more likely to report seeking help from welfare organisations than regional residents. Findings were confirmed with sensitivity tests, including replication with HILDA data, the use of alternative measures of socioeconomic circumstances and the application of different analytic methods. CONCLUSIONS: Using a conventional and nationally used measure of financial hardship, people residing in the most remote regions reported fewer hardships than other rural residents. In contrast to other rural residents, and national population data, there was no association between such hardship and mental health among residents in remote areas. The findings suggest the need to reconsider the experience of financial hardship across localities and possible protective factors within remote regions that may mitigate the psychological impact of such hardship.


Asunto(s)
Salud Mental , Pobreza/psicología , Población Rural/estadística & datos numéricos , Apoyo Social , Estrés Psicológico , Adulto , Anciano , Australia , Femenino , Humanos , Estudios Longitudinales , Persona de Mediana Edad , Características de la Residencia , Salud Rural
18.
Int J Clin Pediatr Dent ; 11(2): 94-99, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29991860

RESUMEN

Dental caries is a disease of multifactorial origin and Streptococcus mutans is considered as the chief pathogen responsible for its development. However, reduction in the number of pathogenic bacteria, particularly S. mutans, with the use of various preventive measures, can reduce dental caries to a significant level. Therefore, the present clinical study was undertaken to evaluate and compare the efficacy of toothbrushing, fluoride varnish, chlorhexidine mouthwash, and a probiotic (Yakult) in reducing the S. mutans counts in the saliva using Dentocult SM Strip Mutans kit in children. A total of 40 school students between the age group of 4 and 8 years were selected for the study and S. mutans count was taken on the first dental visit using Dentocult SM Strip Mutans test kit. After the initial scores of S. mutans were obtained, the children were divided into four groups and provided with different caries preventive regimen for 2 weeks. After 2 weeks, the scores of S. mutans were reevaluated for reduction in their counts, if any. The data thus collected were tabulated and statistically analyzed. All the groups showed a significant reduction in S. mutans counts with the highest reduction from the Fluor Protector varnish followed by chlorhexidine mouthwash, probiotic (Yakult), and toothbrushing. How to cite this article: Sharma M, Pandit IK, Srivastava N, Gugnani N, Gupta M. A Comparative Evaluation of Efficacy of Streptococcus mutans Counts in Saliva: An in vivo Study. Int J Clin Pediatr Dent 2018;11(2):94-99.

19.
Med Phys ; 45(3): 1036-1039, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29377168

RESUMEN

PURPOSE: The purpose of this study is to explore the feasibility of the use of titanium fiducial markers to minimize the metallic artifact seen with tantalum markers which causes significant distortion on postoperative orbital CT scans. METHOD: We designed and constructed the titanium markers in the shop of Crocker Nuclear Laboratory, UC Davis, CA. The markers were placed on an eyeball phantom. The eyeball was inserted into the Rando phantom in the orbital space. The Rando phantom was imaged with coplanar x rays on Nucletron simulator at UCSF, on digital panel on the eye beam line at CNL eye treatment facility and on CT scanner at UCSF. RESULTS: The titanium markers can be clearly seen on the hard copy of x rays and on digital panel. The CT scan of an orbit using tantalum markers on the right eye and titanium markers on the left eye shows the metal artifact from tantalum markers. Titanium markers show very little distortion on CT images. CONCLUSION: The present study describes these markers and their relative benefit in comparison with tantalum marker, which has been used for localizing ocular tumor for decades.


Asunto(s)
Neoplasias de la Coroides/radioterapia , Marcadores Fiduciales , Melanoma/radioterapia , Terapia de Protones , Titanio , Neoplasias de la Coroides/diagnóstico por imagen , Estudios de Factibilidad , Humanos , Melanoma/diagnóstico por imagen , Tomografía Computarizada por Rayos X
20.
Int J Radiat Oncol Biol Phys ; 97(1): 91-97, 2017 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-27838186

RESUMEN

PURPOSE: To perform an in-depth temporal analysis of visual acuity (VA) outcomes after proton beam radiation therapy (PBRT) in a large, uniformly treated cohort of uveal melanoma (UM) patients, to determine trends in VA evolution depending on pretreatment and temporally defined posttreatment VA measurements; and to investigate the relevance of specific patient, tumor and dose-volume parameters to posttreatment vision loss. METHODS AND MATERIALS: Uveal melanoma patients receiving PBRT were identified from a prospectively maintained database. Included patients (n=645) received 56 GyE in 4 fractions, had pretreatment best corrected VA (BCVA) in the affected eye of count fingers (CF) or better, with posttreatment VA assessment at specified post-PBRT time point(s). Patients were grouped according to the pretreatment BCVA into favorable (≥20/40) or unfavorable (20/50-20/400) and poor (CF) strata. Temporal analysis of BCVA changes was described, and univariate and forward stepwise multivariate logistic regression analyses were performed to identify predictors for VA loss. RESULTS: Median VA follow-up was 53 months (range, 3-213 months). At 60-month follow up, among evaluable treated eyes with favorable pretreatment BCVA, 45% retained BCVA ≥20/40, whereas among evaluable treated eyes with initially unfavorable/poor BCVA, 21% had vision ≥20/100. Among those with a favorable initial BCVA, attaining BCVA of ≥20/40 at any posttreatment time point was associated with subsequent maintenance of excellent BCVA. Multivariate analysis identified volume of the macula receiving 28GyE (P<.0001) and optic nerve (P=.0004) as independent dose-volume histogram predictors of 48-month post-PBRT vision loss among initially favorable treated eyes. CONCLUSIONS: Approximately half of PBRT-treated UM eyes with excellent pretreatment BCVA assessed at 5 years after treatment will retain excellent long-term vision. 28GyE macula and optic nerve dose-volume histogram parameters allow for rational treatment planning optimization that may lead to improved visual outcomes. The detailed temporal analysis with intermediate as well as long-term functional prognosis, and the relationship of outcomes with clinical and treatment planning parameters, is critical for informed care of UM patients before and after PBRT.


Asunto(s)
Melanoma/radioterapia , Tratamientos Conservadores del Órgano/métodos , Terapia de Protones/métodos , Neoplasias de la Úvea/radioterapia , Agudeza Visual/efectos de la radiación , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Fraccionamiento de la Dosis de Radiación , Femenino , Estudios de Seguimiento , Humanos , Mácula Lútea/efectos de la radiación , Masculino , Persona de Mediana Edad , Nervio Óptico/efectos de la radiación , Terapia de Protones/efectos adversos , Dosificación Radioterapéutica , Análisis de Regresión , Factores de Tiempo , Resultado del Tratamiento , Trastornos de la Visión/etiología , Trastornos de la Visión/prevención & control , Agudeza Visual/fisiología
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