RESUMO
Primrose syndrome (PS) is a rare genetic disease characterized by developmental delay, intellectual disability, sensorineural hearing loss, and dysmorphic features. PS is caused by de novo pathogenic variants in the ZBTB20 gene, which encodes a transcription factor modulating neurogenesis. We describe resolution with sertraline of neurobehavioral difficulties in a 17-year-old Hispanic male with PS with de novo heterozygous c.1916G > A (p.C639Y) variant of ZBTB20. Neurobehavioral difficulties included aggression towards self and others, irritability, tearfulness, and mood liability that did not respond to behavioral interventions or aripiprazole. Treatment with sertraline, a medication indicated for psychiatric disorders including anxiety and depression, led to the resolution of neurobehavioral difficulties after 2 weeks of initiation of medication. The treatment course suggests that selective serotonin reuptake inhibitors, such as sertraline, may be a useful tool for neurobehavioral difficulties in PS over antipsychotics that are accompanied by complex side effect profiles, and suggest that anxiety is the primary cause of the neurobehavioral difficulties in this patient.
Assuntos
Deficiência Intelectual , Sertralina , Fatores de Transcrição , Humanos , Sertralina/uso terapêutico , Masculino , Adolescente , Deficiência Intelectual/genética , Deficiência Intelectual/tratamento farmacológico , Fatores de Transcrição/genética , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/tratamento farmacológico , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/tratamento farmacológico , Anormalidades Múltiplas/psicologia , Calcinose , Otopatias , Atrofia Muscular , Proteínas do Tecido NervosoRESUMO
OBJECTIVE: This study analyzed the correlation between the average segment width (ASW) and gamma passing rate according to the multi-leaf collimator (MLC) position error. METHOD: To evaluate the changes in the gamma passing rate according to the MLC position error, 21 volumetric modulated arc therapy (VMAT) plans were generated using pelvic lymph node metastatic prostate cancer patient's data which is sensitive to MLC position errors as they involve several long, narrow, irregular fields. The ASW for each VMAT plan was calculated using our own code developed using Visual Basic for Applications (VBA). The gamma passing rate of the VMAT plan according to the MLC position error was evaluated using ArcCHECK (Sun Nuclear, Melbourne, FL, USA) while inducing symmetric MLC position errors in 0.25â mm intervals from -1â mm to +1â mm in the infinity medical linear accelerator (Elekta AB, Stockholm, Sweden). Finally, we examined the correlation between the change in the passing rate (γgradient) due to the MLC position error and the ASW in VMAT through linear regression analysis using the least squares method. RESULTS: The ASW and γgradient were found to have a linear correlation according to the MLC position error, and the coefficient of determination was 0.88. For a 1â mm position error of MLC in VMAT, the gamma passing rate improved by approximately 11.9% as the ASW increased by 10â mm. CONCLUSION: These results are expected to be employed as guidelines to minimize the dose uncertainty due to MLC position error in VMAT.
Assuntos
Planejamento da Radioterapia Assistida por Computador/métodos , Radioterapia de Intensidade Modulada/métodos , Radioterapia de Intensidade Modulada/normas , Algoritmos , Tomada de Decisão Clínica , Gerenciamento Clínico , Raios gama , Humanos , Masculino , Pelve/patologia , Pelve/efeitos da radiação , Neoplasias da Próstata/diagnóstico , Neoplasias da Próstata/radioterapiaRESUMO
Generally, electron therapy is applied to tumors on or close to the skin surface. However, this causes a variety of skin-related side effects. To alleviate the risk of these side effects, clinical treatment uses skin dosimeters to verify the therapeutic dose. However, dosimeters suffer from poor accuracy, because their attachment sites are approximated with the help of naked eyes. Therefore, a dosimeter based on a flexible material that can adjust to the contours of the human body is required. In this study, the reproducibility, linearity, dose-rate dependence, and percentage depth ionization (PDI) of PbO and HgO film-based dosimeters are evaluated to explore their potential as large-scale flexible dosimeters. The results demonstrate that both dosimeters deliver impressive reproducibility (within 1.5%) and linearity (≥ 0.9990). The relative standard deviations of the dose-rate dependence of the PbO and HgO dosimeters were 0.94% and 1.16% at 6 MeV, respectively, and 1.08% and 1.25% at 9 MeV, respectively, with the PbO dosimeter outperforming the 1.1% of existing diodes. The PDI analysis of the PbO and HgO dosimeters returned values of 0.014 cm (-0.074 cm) and 0.051 cm (-0.016 cm), respectively at 6 MeV (9 MeV) compared to the thimble chamber and R50. Therefore, the maximum error of each dosimeter is within the allowable range of 0.1 cm. In short, the analysis reveals that the PbO dosimeter delivers a superior performance relative to its HgO counterpart and has strong potential for use as a surface dosimeter. Thus, flexible monoxide materials have the necessary qualities to be used for dosimeters that meet the requisite quality assurance standards and can satisfy a variety of radiation-related applications as flexible functional materials.
Assuntos
Elétrons/uso terapêutico , Dosimetria Fotográfica/métodos , Desenho de Equipamento , Dosimetria Fotográfica/instrumentação , Humanos , Chumbo/química , Compostos de Mercúrio/química , Neoplasias/terapia , Óxidos/químicaRESUMO
Stereotactic body radiotherapy (SBRT) is currently well-adopted as a curative treatment for primary and metastatic liver tumors. Among SBRT methods, dynamic conformal arc therapy (DCAT) and volumetric-modulated arc therapy (VMAT) are the most preferred methods. In this study, we report a comparison study measuring the dose distribution and delivery efficiency differences between DCAT and VMAT for liver SBRT. All patients who were treated with SBRT for primary or metastatic liver tumors with a curative aim between January 2016 and December 2017 at DIRAMS were enrolled in the study. For all patients, SBRT plans were designed using the Monte Carlo (MC) algorithm in Monaco treatment planning system (version 5.1). The planning goals were set according to the RTOG 0813, RTOG 0915, and RTOG 1112 protocols. A plan comparison was made on the metrics of dose volume histogram, planning and delivery efficiency, monitor unit (MU), and dosimetric indices. PTV coverage was evaluated using the following: Dmean, D95%, D98%, D2%, D50%, Dmax, V95%, heterogeneity index (HI), and conformality index (CI). For DCAT and VMAT, respectively, the Dmean was 5942.8 ± 409.3 cGy and 5890.6 ± 438.8 cGy, D50% was 5968.8 ± 413.1 cGy and 5954.3 ± 405.2 cGy, and CI was 1.05 ± 0.05 and 1.03 ± 0.04. The D98% and V95% were 5580.0 ± 465.3 cGy and 20.4 ± 12.0 mL for DCAT, and 5596.0 ± 478.7 cGy and 20.5 ± 12.0 mL for VMAT, respectively. For normal liver, V40, V30, V20, V17, V5, Dmean, Dmax were evaluated for comparison. The V30, V20, and V10 were significantly higher in DCAT; other parameters of normal livers showed no statistically significant differences. For evaluation of intermediate dose spillage, D2cm(%) and R50% of DCAT and VMAT were 45.8 ± 7.9 and 5.6 ± 0.9 and 45.1 ± 6.7 and 5.5 ± 1.2, respectively. Planning and delivery efficiency were evaluated using MU, Calculation time, and Delivery time. DCAT had shorter Calculation time and Delivery time with smaller MU. MU was smaller in DCAT and the average difference was 300.1 MU. For liver SBRT, DCAT is an effective alternative to VMAT plans that could meet the planning goals proposed by the RTOG SBRT protocol and increases plan and delivery effectiveness, while also ignoring the interplay effect.
RESUMO
OBJECTIVES/HYPOTHESIS: To investigate the efficacy of direct implantation of a Vibrant Soundbridge (VSB) implant in the oval window (OW) without the use of an OW coupler in patients with severe mixed hearing loss. STUDY DESIGN: Retrospective chart review METHODS: A total of 62 patients underwent VSB implantation between July 2016 and December 2018 at Severance Hospital in Seoul, South Korea. Among them, eight patients (nine ears) with moderate-to-severe mixed hearing loss were implanted with a VSB directly in the OW. A floating mass transducer (FMT) was attached to the stapes footplate and covered with tragal cartilage. The outcomes were evaluated using pure-tone audiogram and speech audiogram preoperatively and postoperatively. Word recognition score (WRS; % correct) were measured at the most comfortable loudness (MCL) level to evaluate speech perception. RESULTS: All cases posed difficulty with round window vibroplasty during surgery, and eventually, an FMT was appropriately placed in the OW without a coupler. Preoperative and postoperative bone conduction thresholds were not different. VSB-aided threshold improved in terms of functional and effective gains. Interestingly, four cases showed improved air conduction thresholds without the use of a VSB. In addition, MCL level with a VSB was significantly lower than that with a hearing aid, and VSB-aided WRS improved over time. CONCLUSIONS: Direct implantation of a VSB in the OW without the use of a coupler showed favorable hearing outcomes, and the OW vibroplasty was safe. Direct OW vibroplasty without a coupler is a reliable procedure and can be a good option for hearing rehabilitation in patients with severe mixed hearing loss. LEVEL OF EVIDENCE: 4 Laryngoscope, 2020.
Assuntos
Orelha Interna , Orelha Média , Perda Auditiva Condutiva-Neurossensorial Mista/cirurgia , Prótese Ossicular , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Desenho de Prótese , Estudos RetrospectivosRESUMO
BACKGROUND: Transoral robotic thyroidectomy (TORT) is an ideal method for minimally invasive thyroidectomy, as there is less flap dissection during the procedure and no postoperative scars. However, this method also has the limitation of present DaVinci system and some technical problems related to CO2 gas insufflation that must be resolved. We investigated the feasibility and safety of gasless TORT using the latest version of the DaVinci system (SP). METHODS: From October 2018 to January 2019, we performed 10 surgeries of gasless TORT using the DaVinci SP at Yonsei University Hospital. RESULTS: Nine patients underwent unilateral thyroid lobectomy and one patient received total thyroidectomy. All operations were successfully completed. Nine cases had papillary thyroid carcinoma, and one had benign nodules. The mean surgical time was 177â¯min, and the mean hospital stay was 6.3â¯days. There were no reports of transient or permanent vocal cord palsy, recurrence, or mortality during the follow-up period. Temporary hypoesthesia of the chin due to mental nerve injury was observed in 3 of 10 patients, but it recovered spontaneously within 1â¯months in all cases. CONCLUSIONS: Gasless TORT using the DaVinci SP system is feasible and safe for selected patients and is a potential alternative approach for scarless thyroid surgery.
Assuntos
Recidiva Local de Neoplasia/prevenção & controle , Procedimentos Cirúrgicos Robóticos/métodos , Câncer Papilífero da Tireoide/cirurgia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/métodos , Adulto , Cicatriz/epidemiologia , Cicatriz/etiologia , Cicatriz/prevenção & controle , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/epidemiologia , Duração da Cirurgia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Câncer Papilífero da Tireoide/mortalidade , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/patologia , Tireoidectomia/efeitos adversos , Resultado do Tratamento , Paralisia das Pregas Vocais/epidemiologia , Paralisia das Pregas Vocais/etiologia , Paralisia das Pregas Vocais/prevenção & controleRESUMO
The purpose of this study was to compare the early or late expression levels of p65, Bcl-2, and type II myosin and the frequency of TUNEL-positive nuclei in the rat masseter muscle after injection of different concentrations of botulinum toxin-A (BTX-A). We injected either 5 U or 10 U of BTX-A into both masseter muscles of the rat. As a control group, the same volume of saline was injected. After 2 or 12 weeks, the animals were sacrificed. Subsequently, a biopsy and immunohistochemical staining of the samples were performed using a p65, Bcl-2, or type II myosin antibody. Additionally, a TUNEL assay and transmission electron microscopic analysis were performed. The expression of p65, Bcl-2, and type II myosin increased significantly with increasing concentrations of BTX-A at 2 weeks after BTX-A injection (P < 0.05). The number of TUNEL-positive nuclei was also significantly increased in the BTX-A-treated groups in comparison to the saline-treated control at 2 weeks after BTX-A injection (P < 0.05). Elevated expression of Bcl-2 was also observed in 10-unit BTX-A-treated group at 12 weeks after injection (P < 0.05). At 12 weeks after injection, the number of enlarged mitochondria was increased, and many mitochondria displayed aberrations in cristae morphology after BTX-A injection. In conclusion, BTX-A injection into the masseter muscle increased the expression level of p65, Bcl-2, and type II myosin at an early stage. The morphological changes of mitochondria were more evident at 12 weeks after injection.
RESUMO
BACKGROUND: The purpose of this study was to evaluate the change of food intake after different dosages of botulinum toxin A (BTX) injection in the animal model. Additionally, the dimensional and histological change at 14 days after BTX injection was also evaluated. METHODS: The comparative study was performed using the BTX injection model in rats (n = 5 for each group). Group 1 was the saline-injected group. Group 2 was the 5-unit BTX-injection group to each masseter muscle. Group 3 was the 10-unit BTX-injection group to each masseter muscle. Food intake rates and body weight were checked daily before and after BTX injection until 10 days. All animals were sacrificed at 14 days after BTX injection, and the specimens underwent hematoxylin and eosin stain and immunohistochemical staining for myosin type II (MYH2). RESULTS: The recovery of food intake in groups 2 and 3 decreased significantly compared with group 1 from day 2 to day 7 and day 9 after injection (p < 0.05). The BTX-treated masseter muscles were significantly smaller than those in group 1 (p = 0.015). The immunohistochemical findings demonstrated that the expression of MYH2 was significantly higher in group 3 compared to groups 1 and 2 (p < 0.001). CONCLUSIONS: BTX injection to the masseter muscle in rats demonstrated short food-intake-rate reduction with recovery until 10 days after injection. The thickness of the masseter muscle and MYH2 expression were significantly changed according to the injected dose of BTX.