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1.
Am J Med Genet A ; 194(5): e63530, 2024 05.
Artículo en Inglés | MEDLINE | ID: mdl-38197511

RESUMEN

MPZL2-related hearing loss is a rare form of autosomal recessive hearing loss characterized by progressive, mild sloping to severe sensorineural hearing loss. Thirty-five previously reported patients had biallelic truncating variants in MPZL2, with the exception of one patient with a missense variant of uncertain significance and a truncating variant. Here, we describe the clinical characteristics and genotypes of five patients from four families with confirmed MPZL2-related hearing loss. A rare missense likely pathogenic variant [NM_005797.4(MPZL2):c.280C>T,p.(Arg94Trp)] located in exon 3 was confirmed to be in trans with a recurrent pathogenic truncating variant that segregated with hearing loss in three of the patients from two unrelated families. This is the first recurrent likely pathogenic missense variant identified in MPZL2. Apparently milder or later-onset hearing loss associated with rare missense variants in MPZL2 indicates that some missense variants in this gene may cause a milder phenotype than that resulting from homozygous or compound heterozygous truncating variants. This study, along with the identification of truncating loss of function and missense MPZL2 variants in several diverse populations, suggests that MPZL2-related hearing loss may be more common than previously appreciated and demonstrates the need for MPZL2 inclusion in hearing loss testing panels.


Asunto(s)
Moléculas de Adhesión Celular , Pérdida Auditiva Sensorineural , Humanos , Moléculas de Adhesión Celular/genética , Sordera/genética , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/patología , Mutación Missense/genética , Linaje , Fenotipo
2.
J Pediatr ; 262: 113620, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37473993

RESUMEN

OBJECTIVE: To evaluate factors influencing the diagnostic yield of comprehensive gene panel testing (CGPT) for hearing loss (HL) in children and to understand the characteristics of undiagnosed probands. STUDY DESIGN: This was a retrospective cohort study of 474 probands with childhood-onset HL who underwent CGPT between 2016 and 2020 at a single center. Main outcomes and measures included the association between clinical variables and diagnostic yield and the genetic and clinical characteristics of undiagnosed probands. RESULTS: The overall diagnostic yield was 44% (209/474) with causative variants involving 41 genes. While the diagnostic yield was high in the probands with congenital, bilateral, and severe HL, it was low in those with unilateral, noncongenital, or mild HL; cochlear nerve deficiency; preterm birth; neonatal intensive care unit admittance; certain ancestry; and developmental delay. Follow-up studies on 49 probands with initially inconclusive CGPT results changed the diagnostic status to likely positive or negative outcomes in 39 of them (80%). Reflex to exome sequencing on 128 undiagnosed probands by CGPT revealed diagnostic findings in 8 individuals, 5 of whom had developmental delays. The remaining 255 probands were undiagnosed, with 173 (173/255) having only a single variant in the gene(s) associated with autosomal recessive HL and 28% (48/173) having a matched phenotype. CONCLUSION: CGPT efficiently identifies the genetic etiologies of HL in children. CGPT-undiagnosed probands may benefit from follow-up studies or expanded testing.


Asunto(s)
Sordera , Pérdida Auditiva Sensorineural , Pérdida Auditiva , Nacimiento Prematuro , Femenino , Humanos , Niño , Recién Nacido , Estudios Retrospectivos , Nacimiento Prematuro/genética , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/genética , Sordera/genética , Fenotipo , Pérdida Auditiva Sensorineural/diagnóstico , Pruebas Genéticas/métodos
3.
Am J Med Genet A ; 191(8): 2113-2131, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37377026

RESUMEN

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or "DTRs"). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype-phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.


Asunto(s)
Síndrome de Cornelia de Lange , Proteínas Nucleares , Humanos , Proteínas Nucleares/genética , Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/genética , Síndrome de Cornelia de Lange/patología , Factores de Transcripción/genética , Proteínas de Ciclo Celular/genética , Fenotipo , Mutación , Genómica , Estudios de Asociación Genética , Factores de Elongación Transcripcional/genética , Histona Desacetilasas/genética , Proteínas Represoras/genética
4.
Pediatr Radiol ; 46(12): 1663-1670, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-27531216

RESUMEN

BACKGROUND: Some iterative reconstruction algorithms are useful for reducing the radiation dose in pediatric cardiac CT. A new iterative reconstruction algorithm (forward-projected model-based iterative reconstruction solution) has been developed, but its usefulness for radiation dose reduction in pediatric cardiac CT is unknown. OBJECTIVE: To investigate the effect of the new algorithm on CT image quality and on radiation dose in pediatric cardiac CT. MATERIALS AND METHODS: We obtained phantom data at six dose levels, as well as pediatric cardiac CT data, and reconstructed CT images using filtered back projection, adaptive iterative dose reduction 3-D (AIDR 3-D) and the new algorithm. We evaluated phantom image quality using physical assessment. Four radiologists performed visual evaluation of cardiac CT image quality. RESULTS: In the phantom study, the new algorithm effectively suppressed noise in the low-dose range and moderately generated modulation transfer function, yielding a higher signal-to-noise ratio compared with filtered back projection or AIDR 3-D. When clinical cardiac CT was performed, images obtained by the new method had less perceived image noise and better tissue contrast at similar resolution compared with AIDR 3-D images. CONCLUSION: The new algorithm reduced image noise at moderate resolution in low-dose CT scans and improved the perceived quality of cardiac CT images to some extent. This new algorithm might be superior to AIDR 3-D for radiation dose reduction in pediatric cardiac CT.


Asunto(s)
Algoritmos , Cardiopatías Congénitas/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador/métodos , Dosis de Radiación , Tomografía Computarizada por Rayos X/métodos , Femenino , Corazón/diagnóstico por imagen , Humanos , Imagenología Tridimensional/métodos , Lactante , Masculino , Fantasmas de Imagen , Reproducibilidad de los Resultados , Relación Señal-Ruido
5.
Anal Biochem ; 472: 75-83, 2015 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-25481737

RESUMEN

RNA external standards, although important to ensure equivalence across many microarray platforms, have yet to be fully implemented in the research community. In this article, a set of unique RNA external standards (or RNA standards) and probe pairs that were added to total RNA in the samples before amplification and labeling are described. Concentration-response curves of RNA external standards were used across multiple commercial DNA microarray platforms and/or quantitative real-time polymerase chain reaction (RT-PCR) and next-generation sequencing to identify problematic assays and potential sources of variation in the analytical process. A variety of standards can be added in a range of concentrations spanning high and low abundances, thereby enabling the evaluation of assay performance across the expected range of concentrations found in a clinical sample. Using this approach, we show that we are able to confirm the dynamic range and the limit of detection for each DNA microarray platform, RT-PCR protocol, and next-generation sequencer. In addition, the combination of a series of standards and their probes was investigated on each platform, demonstrating that multiplatform calibration and validation is possible.


Asunto(s)
Modelos Químicos , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Análisis de Secuencia por Matrices de Oligonucleótidos/normas , Sondas ARN/química , Estándares de Referencia
6.
Am J Otolaryngol ; 35(6): 731-5, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25087467

RESUMEN

OBJECTIVE: Salivary duct carcinoma is a rare and aggressive tumor of the salivary glands. The objectives of this study were to investigate the clinicopathological features of salivary duct carcinoma and to determine whether androgen deprivation therapy should be recommended. STUDY DESIGN AND METHODS: The clinical records of seven patients diagnosed with salivary duct carcinoma between 2002 and 2012 were retrospectively assessed. Tumor specimens were examined for overexpression of human epidermal growth factor receptor 2 (HER2) and androgen receptor by immunohistochemistry. A case of androgen receptor-positive salivary duct carcinoma who received androgen deprivation therapy is presented. RESULTS: Of the seven patients, 43% had recurrences and metastases, and the 5-year survival rate was 68.6%. All patients were androgen receptor-positive, and 71% were HER2-positive. One patient, a 66-year-old man with androgen receptor-positive salivary duct carcinoma, received oral bicalutimide for 14 months and practically all lung metastases disappeared. CONCLUSION: Androgen receptor is often overexpressed in salivary duct carcinoma. Androgen deprivation therapy is safe and should be considered for patients with androgen receptor-positive salivary duct carcinoma.


Asunto(s)
Antagonistas de Andrógenos/uso terapéutico , Anilidas/uso terapéutico , Nitrilos/uso terapéutico , Receptor ErbB-2/metabolismo , Receptores Androgénicos/metabolismo , Conductos Salivales , Neoplasias de las Glándulas Salivales/patología , Compuestos de Tosilo/uso terapéutico , Anciano , Femenino , Humanos , Inmunohistoquímica , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Pronóstico , Neoplasias de las Glándulas Salivales/tratamiento farmacológico , Neoplasias de las Glándulas Salivales/metabolismo
7.
Jpn J Radiol ; 42(6): 639-647, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38345725

RESUMEN

PURPOSE: Whole-body silicon photomultiplier positron emission tomography (WB SiPM PET) could be used to diagnose breast cancer spread before lumpectomy. We aimed to investigate the method of measuring the tumor size by WB SiPM PET as a basis for diagnosing breast cancer spread in the breast. MATERIALS AND METHODS: We retrospectively reviewed 35 breast cancer lesions in 32 patients who underwent WB SiPM PET/CT in the prone position as preoperative breast cancer examinations from September 2020 to March 2022. In all cases, a 20-mm spherical VOI was placed in the normal mammary gland to measure the mean standardised uptake value (SUVmean) and the standard deviation (SD) of 18F-fluorodeoxyglucose (FDG) uptake. We prepared four types of candidates (SUVmean + 2 SD, SUVmean + 3 SD, 1.5 SUVmean + 2 SD, 1.5 SUVmean + 3 SD) for thresholds for delineating tumor contours on PET images. On the semiautomatic viewer soft, the maximum tumor sizes were measured at each of the four thresholds and compared with the pathological tumor sizes, including the extensive intraductal component (EIC). RESULTS: The lesion detection sensitivity was 97% for WB SiPM PET. PET detected 34 lesions, excluding 4-mm ductal carcinomas in situ (DCIS). PET measurements at the '1.5 SUVmean + 2 SD' threshold demonstrated values closest to the pathological tumor sizes, including EIC. Moreover, '1.5 SUVmean + 2 SD' had the highest concordance (63%). CONCLUSIONS: The study demonstrated that among various PET thresholds, the '1.5 SUVmean + 2 SD' threshold exhibited the best performance. However, even with this threshold, the concordance rate was limited to only 63%.


Asunto(s)
Neoplasias de la Mama , Estudios de Factibilidad , Fluorodesoxiglucosa F18 , Tomografía Computarizada por Tomografía de Emisión de Positrones , Silicio , Humanos , Femenino , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/patología , Persona de Mediana Edad , Estudios Retrospectivos , Anciano , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Adulto , Radiofármacos , Imagen de Cuerpo Entero/métodos , Tomografía de Emisión de Positrones/métodos , Carga Tumoral , Anciano de 80 o más Años , Cuidados Preoperatorios/métodos
8.
Pediatr Infect Dis J ; 2024 Jul 29.
Artículo en Inglés | MEDLINE | ID: mdl-39079035

RESUMEN

Congenital cytomegalovirus (cCMV) infection is the most common congenital infection in developed countries. Although a standard therapy has not yet been established, evidence for the management of cCMV infection has been accumulating. The first edition of the "Clinical Practice Guidelines for the Management of Congenital Cytomegalovirus Infection" was published in Japan in 2023. This summary outlines the clinical questions (CQs) in the guidelines, with reference to the Japanese Medical Information Distribution Service Manual. Overall, 20 CQs with statements regarding prenatal risk assessment, prevention and management at diagnosis (CQs 1-1-1-3), diagnosis (CQs 2-1-2-6), treatment (CQs 3-1-3-7) and follow-up requirements (CQs 4-1-4-4) have been discussed. For each statement, the levels of recommendation, evidence and consensus rates were determined. These guidelines will assist in the management of patients with cCMV infection.

9.
J Pediatr Hematol Oncol ; 35(7): e280-2, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23669733

RESUMEN

A girl, aged 19 months, presented with a sacrococcygeal tumor that developed at 5 months after birth and gradually enlarged. Serum tumor marker levels were negative. Ultrasound imaging showed abundant blood flow in the tumor. However, neither computed tomography (CT) nor magnetic resonance imaging (MRI) showed contrast agent incorporation. The surgically resected tumor consisted of immature cells with myxoid stroma and proliferating small blood vessels. Immunostaining showed extensive vimentin expression. However, smooth muscle actin, muscle-specific actin, and S-100 protein expression was negative. Neither the ETV6-NTRK3 fusion gene nor the FUS gene rearrangement was detected. Thus, the patient was diagnosed with a primitive myxoid mesenchymal tumor of infancy. This tumor primarily consisted of a mucosal stroma with a low absorption on CT, a low signal on T1-weighted MRI, and a high signal on T2-weighted MRI. A diagnosis of primitive myxoid mesenchymal tumor of infancy should be considered in cases of soft tissue tumors in infants that show prominent vascularity but little contrast enhancement on MRI or CT.


Asunto(s)
Neoplasias de Tejido Conjuntivo/diagnóstico , Neoplasias de los Tejidos Blandos/diagnóstico , Femenino , Humanos , Inmunohistoquímica , Lactante , Imagen por Resonancia Magnética , Neoplasias de Tejido Conjuntivo/cirugía , Región Sacrococcígea , Neoplasias de los Tejidos Blandos/cirugía , Tomografía Computarizada por Rayos X
10.
J Vasc Surg Cases Innov Tech ; 9(2): 101138, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37139351

RESUMEN

A 68-year-old man with chronic limb-threatening ischemia caused by atypical vasculitis was successfully treated by the combination of pedal arch angioplasty and dual distal bypass. Angioplasty alone failed; therefore, we performed pedal arch angioplasty followed by distal bypass revascularized to the newly created dorsalis pedis artery and posterior tibial artery anastomosis sites. Restenosis occurred twice, and both cases were successfully treated by immediate angioplasty. Both branches of the graft remained patent for >2.5 years, and the wound healed completely. This unique combination of techniques can provide favorable results for selected patients with chronic limb-threatening ischemia.

11.
Acta Radiol Open ; 12(5): 20584601231174611, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37163201

RESUMEN

We present a case of a 35-year-old woman with breast cancer in lactation 3 months after childbirth, in which a lactation inhibitor was useful for 18F-FDG PET/CT examination. Via ultrasonography and biopsy with histopathology, we diagnosed the lesion in the upper region of the left breast as invasive ductal carcinoma. She stopped breastfeeding and was administered cabergoline to suppress lactation. Two days after the administration, 18F-FDG PET/CT revealed segmental uptake (10 cm in diameter) and no lactation-related uptakes. Dynamic MRI also revealed a segmental enhancement of the same size as 18F-FDG PET/CT. The lactation inhibitor was useful to delineate the extent of the lesion during the 18F-FDG PET/CT examination.

12.
J Cardiol ; 2023 Oct 09.
Artículo en Inglés | MEDLINE | ID: mdl-37816481

RESUMEN

BACKGROUND: The risk of coronary artery disease in peripheral arterial disease (PAD) is high, life prognosis is poor, and lipid-lowering treatment with statins has been reported to improve prognosis. In clinical practice, however, hypolipidemia is more common in patients with severe PAD and statin prescription rates appear to be low, but specific data are scarce in Japan. Therefore, we conducted this cross-sectional study in collaboration with other centers of vascular surgery to determine the rate of statin prescriptions for PAD patients in real-world practice, the rate of achievement of low-density lipoprotein (LDL) cholesterol control targets, and whether statin non-use is a determinant factor of critical limb ischemia (CLI). METHODS: A total of 246 PAD patients (97 with CLI) from 5 sites were included in this study. Medical history and blood test data were obtained from medical records and interviews with patients, and were compared between CLI and non-CLI patients. RESULTS: Statin prescription rate was only 34 %. The overall LDL cholesterol control target rate was 46 % of CLI cases and 51 % of non-CLI cases, according to the lipid management criteria of the Japanese Society for Atherosclerosis 2022 guidelines. Patients in the CLI group had a lower mean body mass index and lower LDL cholesterol levels than those in the non-CLI group, suggesting that these factors were responsible for the lower statin prescription rate. However, multivariate analysis revealed that statin non-use was one of the determinants of CLI. CONCLUSIONS: Statin prescription rates for PAD patients were low in real-world practice settings in the field of vascular surgery. Since statin non-use is a determinant of CLI, there is a need to educate physicians engaged in treatment regarding lipid-lowering treatment with statins.

13.
Int J Biometeorol ; 56(5): 903-14, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21953217

RESUMEN

We investigated relationships between the flowering phenology of Prunus yedoensis "Somei-yoshino" (cherry blossom) and the local temperatures in Japan. Our observations were carried out across the Okayama Plain, which included Okayama City (about 700,000 inhabitants), from the winter of 2008 to the spring of 2009. Local air temperature (AT) and the globe temperature (GT) were recorded at the tree height. The flowering dates (FDs) of P. yedoensis were earliest in the central commercial area (located at the center of the plain), followed by the north residential area (further inland), and finally the south residential area (seaward). The recorded FDs were related to the period-averaged daily maximum/minimum AT and GT, and the phenologically effective AT and GT defined in this study. Of these parameters, the phenologically effective GTs correlated most with the FDs. Since the GT is determined by AT, solar and infrared radiations, and wind speed, our previous result suggests that a combination of these three components surrounding the tree is more important for budding and flowering than is AT alone. The supposition is supported by the flowering of P. yedoensis being the latest at the coastal region of the Okayama Plain where the AT were higher than at the inland region, excluding the urban area; it is probably caused by stronger winds there than at the other sites.


Asunto(s)
Flores/fisiología , Prunus/fisiología , Geografía , Japón , Temperatura , Viento
14.
Ann Vasc Dis ; 14(4): 328-333, 2021 Dec 25.
Artículo en Inglés | MEDLINE | ID: mdl-35082937

RESUMEN

Objective: The perfusion index (PI) is a physiological marker for evaluating the peripheral circulation. We explored the possibility of using PI as a screening tool for development of critical limb ischemia in peripheral artery disease (PAD). Method: We measured the PI in 79 limbs of 70 PAD patients. Data were analyzed to find a correlation between the PI and PAD severity. Result: The PI tended to be lower as PAD became severer. Especially, there were significant differences between the Fontaine 1 and Fontaine 4 groups in average PI and minimum PI, and between Fontaine 1 and two other groups (Fontaine 2 and Fontaine 4 groups) in maximum PI. A mild correlation was found between PI and the ankle brachial index. These data were used to calculate an average PI of 0.27 as a cut-off value for critical limb ischemia (CLI). In 65 asymptomatic PAD patients and claudication, significantly more patients with a PI value greater than the cut-off value developed CLI than those with a PI lower than the cut-off. Conclusion: The PI can be a useful tool for evaluating the development of CLI in mild PAD patients, and patients tended not to progress to CLI when their average PI was higher than 0.27. (This is a translation of Jpn J Vasc Surg 2020; 29: 103-108.).

15.
Otol Neurotol ; 42(2): e117-e123, 2021 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-32941299

RESUMEN

OBJECTIVE: To propose a simple grading of inner ear malformation (IEM) and investigate intracochlear electrical auditory brainstem response (EABR) and outcomes for hearing in terms of the novel grading system. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Sixty patients with IEMs who received cochlear implants. INTERVENTION: Grading according to observation of modiolus deficiency and/or internal auditory canal (IAC) cochlear nerve deficiency (CND). MAIN OUTCOME MEASURE: Intracochlear EABR and categories of auditory performance (CAP) scores were assessed; children in school were categorized according to the type of school attended. RESULTS: Among 60 patients, 38% were classified as Grade I (modiolus present + normal cochlear nerve), 22% as grade II (modiolus deficiency + normal cochlear nerve), 33% as grade III (modiolus present + IAC CND), and 7% as grade IV (modiolus deficiency + IAC CND). During the operation, 93% of Grade I, 36% of Grade II, 23% of Grade III, and 50% of Grade IV patients showed typical EABR waves. CAP scores of 4 or more were obtained from 91% of Grade I, 62% of Grade II, 35% of Grade III, and 25% of Grade IV. Whereas none of children in Grades III and IV entered main stream school, 55% of Grade I and 25% of Grade II entered mainstream schools. CONCLUSIONS: Outcomes of hearing with cochlear implantations in IEM children depend on the severity of IEM and IAC CND. Our novel grading of IEM is simple and can be useful for understanding the severity of IEM.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Oído Interno , Niño , Nervio Coclear , Potenciales Evocados Auditivos del Tronco Encefálico , Audición , Humanos , Lactante , Estudios Retrospectivos
16.
J Clin Microbiol ; 48(7): 2357-64, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20421438

RESUMEN

Fungal diseases in immunocompromised hosts pose significant threats to their prognoses. An accurate diagnosis and identification of the fungal pathogens causing the infection are critical to determine the proper therapeutic interventions, but these are often not achieved, due to difficulties with isolation and morphological identification. In an effort to ultimately carry out the simultaneous detection of all human pathogenic microbes, we developed a simple system to identify 26 clinically important fungi by using a combination of PCR amplification and DNA microarray assay (designated PCR-DM), in which PCR-amplified DNA from the internal transcribed spacer region of the rRNA gene was hybridized to a DNA microarray fabricated with species-specific probes sets using the Bubble Jet technology. PCR-DM reliably identified all 26 reference strains; hence, we applied it to cases of onychomycosis, taking advantage of the accessibility of tissue from skin. PCR-DM detected fungal DNA and identified pathogens in 92% of 106 microscopy-confirmed onychomycosis specimens. In contrast, culture was successful for only 36 specimens (34%), 3 of which had results inconsistent with the results of PCR-DM, but sequence analysis of the isolates proved that the PCR-DM result was correct. Thus, PCR-DM provides a powerful method to identify pathogenic fungi with high sensitivity and speed directly from tissue specimens, and this concept could be applied to other fungal or nonfungal infectious human diseases in less accessible anatomical sites.


Asunto(s)
Candida/aislamiento & purificación , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Onicomicosis , Reacción en Cadena de la Polimerasa/métodos , Trichophyton/aislamiento & purificación , Candida/genética , ADN de Hongos/análisis , ADN de Hongos/aislamiento & purificación , Humanos , Uñas/microbiología , Onicomicosis/diagnóstico , Onicomicosis/microbiología , Valor Predictivo de las Pruebas , Especificidad de la Especie , Trichophyton/genética
17.
Otol Neurotol ; 41(6): e663-e673, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32097363

RESUMEN

HYPOTHESIS: The phenotype of DFNA11 consists of specific features at diverse developmental and age stages. BACKGROUND: Only eight mutations have been identified for autosomal dominant non-syndromic hearing loss related to MYO7A (DFNA11), and the onset and progression of DFNA11 are poorly understood. METHODS: After linkage analysis and following Sanger sequencing in a family suspected to have autosomal dominant hereditary hearing loss, we analyzed the audiometric and vestibular functions and their long-term changes in the subjects carrying the variant. RESULTS: A reported variant of uncertain significance, NP_000251.3:p.Arg853His, in MYO7A was detected and cosegregation data of this large family provided evidence that the variant was likely pathogenic for DFNA11. Family members with the variant had no other symptoms associated with hearing loss and were confirmed to have autosomal dominant non-syndromic sensorineural hearing loss. Audiograms tended to show gently sloping configuration in childhood and flat configuration after the age of 30 years. Hearing loss at high frequencies progressed slowly, while hearing at low frequencies started to deteriorate later but progressed more rapidly. Some subjects showed partly abnormal results in the distortion products of otoacoustic emissions before the elevation of hearing thresholds. Vestibular function was within the normal range in all the subjects tested. CONCLUSION: We revealed that hearing loss at high frequencies was mainly noted in early developmental stages and that thresholds increased more rapidly in the low frequency range, resulting in changes in audiometric configuration. Deterioration of distortion product otoacoustic emissions (DPOAE) before the elevation of hearing thresholds was considered as a clinical feature of DFNA11.


Asunto(s)
Pérdida Auditiva Sensorineural , Miosina VIIa/genética , Adulto , Envejecimiento , Niño , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Humanos , Miosinas/genética , Emisiones Otoacústicas Espontáneas , Linaje
18.
Clin Imaging ; 54: 84-90, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30576939

RESUMEN

Digital breast tomosynthesis (DBT) is a new modality that assists in detection of breast cancer. However, benign masses are also detected more easily by DBT and may require further workup. This article reviews typical imaging features of non-calcified benign masses on DBT. We also discuss the management of these benign masses. Knowledge of the imaging features of benign masses on DBT is required to minimize unnecessary callbacks.


Asunto(s)
Neoplasias de la Mama/diagnóstico , Mamografía/métodos , Femenino , Humanos
19.
Auris Nasus Larynx ; 45(4): 871-874, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29089157

RESUMEN

Schwanomatosis is the third most common form of neurofibromatosis. Schwanomatosis affecting the vagus nerve is particularly rare. In this report, we describe an extremely rare case bilateral vagus nerve schwanomatosis in a 45-year-old male patient. The patient initially presented with bilateral neck tumors and hoarseness arising after thoracic surgery. We performed left neck surgery in order to diagnose and resect the remaining tumors followed by laryngeal framework surgery to improve vocal cord closure and symptoms of hoarseness. Voice recovery was successfully achieved after surgery. An appropriate diagnosis and surgical tumor resection followed by phonosurgery improved patient quality of life in this rare case.


Asunto(s)
Neoplasias Primarias Múltiples/diagnóstico por imagen , Neoplasias de la Vaina del Nervio/diagnóstico por imagen , Neurilemoma/diagnóstico por imagen , Enfermedades del Nervio Vago/diagnóstico por imagen , Ronquera/etiología , Ronquera/fisiopatología , Humanos , Laringoplastia , Masculino , Persona de Mediana Edad , Neoplasias Primarias Múltiples/complicaciones , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/fisiopatología , Neoplasias de la Vaina del Nervio/complicaciones , Neoplasias de la Vaina del Nervio/patología , Neoplasias de la Vaina del Nervio/fisiopatología , Neurilemoma/complicaciones , Neurilemoma/patología , Neurilemoma/fisiopatología , Recuperación de la Función , Enfermedades del Nervio Vago/complicaciones , Enfermedades del Nervio Vago/patología , Enfermedades del Nervio Vago/fisiopatología , Pliegues Vocales
20.
Laryngoscope ; 128(11): 2593-2599, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30079962

RESUMEN

OBJECTIVES/HYPOTHESIS: Vocal fold polyps and nodules are common benign laryngeal lesions. Currently, the Japanese health insurance system covers surgical interventions. However, the establishment of more cost-effective conservative methods is required, because healthcare costs are viewed as a major concern, and the government and taxpayers are demanding more economical, effective treatments. In this situation, more suitable vocal hygiene education may be important for the success of cost-effective conservative treatment. In this study, we developed a novel reinforced vocal hygiene education program and compared the results of this program with those of previous methods of teaching vocal hygiene. STUDY DESIGN: Multicenter randomized controlled trial. METHODS: Patients who visited a National Hospital Organization (NHO) hospital for the surgical indication of hoarseness were included in the study. Before undergoing surgery, 200 patients with benign vocal fold lesions (vocal fold polyps/nodules) were enrolled and randomly allocated to the NHO-style vocal hygiene educational program (intervention group) or control education program (control group). Two months after enrollment, the patients in both groups underwent laryngeal fiberscopic examinations to determine whether the benign lesions had resolved or whether surgery was indicated for the vocal fold polyps/nodules. RESULTS: After 2 months, in the intervention group, the proportion of lesion resolution (61.3%) was significantly greater than that in the control group (26.3%) (P < .001, Fisher exact test). CONCLUSIONS: Our results clearly indicate that the quality and features of the education program could affect the outcome of the intervention. We found that a reinforced vocal hygiene education program increased the rate of the resolution of benign vocal fold polyps and nodules in a multicenter randomized clinical trial. LEVEL OF EVIDENCE: 1b Laryngoscope, 2593-2599, 2018.


Asunto(s)
Tratamiento Conservador/métodos , Higiene/educación , Enfermedades de la Laringe/terapia , Educación del Paciente como Asunto/métodos , Pólipos/terapia , Evaluación de Programas y Proyectos de Salud , Femenino , Humanos , Enfermedades de la Laringe/patología , Laringoscopía/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Pólipos/patología , Resultado del Tratamiento , Pliegues Vocales/patología
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