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1.
Ann Lab Med ; 2024 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-39344146

RESUMO

Background: NUP98 rearrangements (NUP98r), associated with various hematologic malignancies, involve more than 30 partner genes. Despite their clinical significance, reports on the clinicopathological characteristics of rare NUP98r remain limited. We investigated the characteristics of patients with myeloid neoplasms harboring NUP98r among those identified as having 11p15 translocation in chromosomal analysis. Methods: We retrospectively reviewed results from bone marrow chromosomal analyses conducted between 2011 and 2023 and identified 15 patients with 11p15 translocation. Subsequently, NUP98r were evaluated using FISH and/or reverse transcription PCR, and clinical and laboratory data of the patients were analyzed. Results: NUP98r were identified in 11 patients initially diagnosed as having AML (N=8), myelodysplastic syndrome (N=2), or chronic myelomonocytic leukemia (N=1), with a median age of 44 yrs (range, 4-77 yrs). Three patients had a history of chemotherapy. In total, five NUP98 fusions were identified: NUP98::DDX10 (N=3), NUP98::HOXA9 (N=2), NUP98::PSIP1 (N=2), NUP98::PRRX1 (N=1), and NUP98::HOXC11 (N=1). Patients with NUP98r exhibited a poor prognosis, with a median overall survival of 12.0 months (95% confidence interval [CI], 3.4-29.6 months) and a 5-yr overall survival rate of 18.2% (95% CI, 5.2%-63.7%). Conclusions: Our study revealed the clinical and genetic characteristics of patients with myeloid neoplasms harboring rare and non-cryptic NUP98r. Given its association with poor prognosis, a comprehensive evaluation is crucial for identifying previously underdiagnosed NUP98r in patients with myeloid neoplasms.

2.
Ophthalmic Plast Reconstr Surg ; 40(5): 487-496, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39145503

RESUMO

PURPOSE: The impact of heredity and treatment modalities on the development of hematologic second primary malignancies (SPMs) is unclear. This study primarily reviewed the literature on patients with hematologic SPMs after retinoblastoma. METHODS: The PubMed and Web of Science databases were searched to identify all cases of hematologic SPMs after retinoblastoma through December 2023 (International prospective register of systematic reviews CRD42023488273). RESULTS: Sixty-one patients from 35 independent publications and our case were included. Within the cohort, 15 patients (51.7%) were male, and 14 patients (48.3%) were female. Of the 43 cases with known heritability status, 27 (62.8%) were classified as heritable and 16 (37.2%) as nonheritable. The median age at diagnosis was 18 months (IQR: 7.00-36.00). The geographic distribution of patients was diverse, with North America accounting for 35.0% (21/60) of cases. The following treatment strategies were used: 11.9% (5/42) of patients received neither chemotherapy nor radiotherapy, 33.3% (14/42) received chemotherapy alone, 11.9% (5/42) received radiotherapy alone, and 42.9% (18/42) received a combination of chemotherapy and radiotherapy. The median delay between retinoblastoma diagnosis and SPM diagnosis was 40 months (IQR: 22.00-85.00). Among the 61 cases, acute myeloid leukemia accounted for 44.3% (27/61), followed by acute lymphoblastic leukemia in 21.3% (13/61), Hodgkin's lymphoma in 11.5% (7/61), non-Hodgkin's lymphoma in 9.8% (6/61), chronic myeloid leukemia in 3.3% (2/61), and acute natural killer cell leukemia in 1.6% (1/61). CONCLUSIONS: Vigilant systemic surveillance for hematologic SPMs in retinoblastoma survivors, especially those treated with systemic chemotherapy and those with hereditary conditions, is warranted to improve management strategies and patient outcomes.


Assuntos
Segunda Neoplasia Primária , Neoplasias da Retina , Retinoblastoma , Humanos , Retinoblastoma/diagnóstico , Retinoblastoma/terapia , Segunda Neoplasia Primária/diagnóstico , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/terapia , Lactente , Neoplasias Hematológicas/diagnóstico , Pré-Escolar , Feminino , Masculino
4.
Clin Mol Hepatol ; 2024 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-39048522

RESUMO

Background/Aims: Blocking the complement system is a promising strategy to impede the progression of metabolic dysfunction-associated steatotic liver disease (MASLD). However, the interplay between complement and MASLD remains to be elucidated. This comprehensive approach aimed to investigate the potential association between complement dysregulation and the histological severity of MASLD. Methods: Liver biopsy specimens were procured from a cohort comprising 106 Korean individuals, which included 31 controls, 17 with isolated steatosis, and 58 with metabolic dysfunction-associated steatohepatitis (MASH). Utilizing the Infinium Methylation EPIC array, thorough analysis of methylation alterations in 61 complement genes was conducted. The expression and methylation of nine complement genes in a murine MASH model were examined using quantitative RT-PCR and pyrosequencing. Results: Methylome and transcriptome analyses of liver biopsies revealed significant (P <0.05) hypermethylation and downregulation of C1R, C1S, C3, C6, C4BPA, and SERPING1, as well as hypomethylation (P <0.0005) and upregulation (P <0.05) of C5AR1, C7, and CD59, in association with the histological severity of MASLD. Furthermore, DNA methylation and the relative expression of nine complement genes in a MASH diet mouse model aligned with human data. Conclusions: Our research provides compelling evidence that epigenetic alterations in complement genes correlate with MASLD severity, offering valuable insights into the mechanisms driving MASLD progression, and suggests that inhibiting the function of certain complement proteins may be a promising strategy for managing MASLD.

5.
Virchows Arch ; 2024 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-39066837

RESUMO

The ETV6::ABL1 fusion defines a subgroup of myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions. We report a case of extramedullary involvement and leukemic transformation in myeloproliferative neoplasm (MPN), where ETV6::ABL1 was initially overlooked but later detected in the blast phase. ETV6::ABL1 burden was very low during the MPN phase but increased substantially during the blast phase. This correlation between ETV6::ABL1 burden and disease phenotype indicated that an immature leukemic clone is the sole carrier of ETV6::ABL1, suggesting that ETV6::ABL1 is not the primary driver of the MPN phase. Moreover, only the blast phase revealed somatic mutations in RUNX1 and STAG2, or complex karyotype, while the MPN phase revealed no molecular and cytogenetic abnormalities. Therefore, it remains uncertain whether the small clone of ETV6::ABL1 influenced the manifestation of MPN or if another underlying driver was responsible for the MPN phase, necessitating further research.

6.
Dermatol Surg ; 50(9): 834-837, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-38712848

RESUMO

BACKGROUND: Hypertrophied submandibular glands provide a bulky contour to the lower face. Botulinum neurotoxin injection methods are commonly used for facial contouring; however, no studies have suggested injection points because of the lack of delicate anatomical information on the submandibular gland. OBJECTIVE: The aim of this study was to determine the optimal injection site for botulinum neurotoxin injections in the submandibular gland. MATERIALS AND METHODS: Anatomical considerations when injecting botulinum neurotoxin into the submandibular gland were determined using ultrasonography. The thickness of the submandibular gland, its depth from the skin surface, and the location of the vascular bundle were observed bilaterally in 42 participants. Two cadavers were dissected to measure the location of the submandibular gland corresponding to the ultrasonographic observation. RESULTS: The thickest part of the submandibular gland measured 11.12 ± 2.46 in width with a depth of 4.63 ± 0.76. At the point where it crosses the line of the lateral canthus, it measured 5.53 ± 1.83 in width and 8.73 ± 1.64 in depth. CONCLUSION: The authors suggest optimal injection sites based on external anatomical landmarks. These guidelines aim to maximize the effects of botulinum neurotoxin therapy by minimizing its deleterious effects, which can be useful in clinical settings.


Assuntos
Toxinas Botulínicas Tipo A , Glândula Submandibular , Ultrassonografia , Humanos , Glândula Submandibular/diagnóstico por imagem , Feminino , Toxinas Botulínicas Tipo A/administração & dosagem , Masculino , Adulto , Pessoa de Meia-Idade , Técnicas Cosméticas , Fármacos Neuromusculares/administração & dosagem , Cadáver , Adulto Jovem , Pontos de Referência Anatômicos , Injeções
7.
J Cosmet Dermatol ; 23(9): 2836-2842, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38666462

RESUMO

INTRODUCTION: The nasal region plays a pivotal role in both facial esthetics and functionality. The use of volumizing fillers has emerged as a potential means to enhance nasal appearance. Preliminary findings from cadaveric studies have highlighted potential risks associated with deeper needle injection, leading to cartilage damage and lateral migration of filler material. Understanding the subcutaneous tissue depth is crucial to prevent such complications and ensure safe filler placement guided by anatomical knowledge. METHODS: This study aimed to employ ultrasonographic assessment to precisely measure the depth of soft tissue in the nasal area. Fifty-two participants without prior nasal surgery or filler injections underwent detailed ultrasonographic evaluation, focusing on seven key anatomical points: Glabellar, Sellion, Rhinion, between Rhinion and Pronasal, Pronasal, between Pronasal and Subnasal, and Subnasal. RESULTS: The ultrasonographic observation revealed varying depths of subcutaneous tissue across these points: Glabellar (4.11 ± 0.79), Sellion (5.21 ± 0.97), Rhinion (2.02 ± 0.74), Rhinion to Pronasal midpoint (6.45 ± 3.1), Pronasal (9.5 ± 2.2), between Pronasal and Subnasal (8.8 ± 0.8), and Subnasal (8.5 ± 0.5). DISCUSSION: The discussion underscores the significance of understanding subcutaneous tissue depth in guiding needle length and approach angles during filler injections. This knowledge aids in achieving effective filling while ensuring safe placement within the subcutaneous tissue.


Assuntos
Técnicas Cosméticas , Preenchedores Dérmicos , Nariz , Tela Subcutânea , Ultrassonografia , Humanos , Preenchedores Dérmicos/administração & dosagem , Preenchedores Dérmicos/efeitos adversos , Nariz/anatomia & histologia , Nariz/diagnóstico por imagem , Feminino , Tela Subcutânea/diagnóstico por imagem , Tela Subcutânea/anatomia & histologia , Adulto , Masculino , Injeções Subcutâneas/métodos , Pessoa de Meia-Idade , Adulto Jovem
8.
J Pers Med ; 14(3)2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38541010

RESUMO

Chronic kidney disease (CKD) is a leading cause of global mortality. While recent reports suggest potential connections between CKD and chronic rhinosinusitis (CRS), further research is needed to elucidate the direct association between CKD and CRS. This study investigated the association between CKD and CRS using data from the Korean National Health Insurance Service Health Screening Cohort. Participants were recruited according to medical claim codes, and individuals with CKD were matched in a 1:4 ratio with the control group. Covariates, such as demographics, health-related data, and medical history were used. The incidence rates and hazard ratio of CRS were analyzed. A further analysis was performed based on the presence of nasal polyps. Among the 514,866 participants, 16,644 patients with CKD and 66,576 matched controls were included in the analysis. The CKD group demonstrated a higher incidence of CRS than the controls: 18.30 versus 13.10 per 10,000 person-years. The CKD group demonstrated a higher risk of CRS than the control group (1.28 adjusted hazard ratio). In additional analyses, the CKD group did not exhibit a statistically significant correlation for the development of CRS with nasal polyps. This study suggests that CKD is associated with an increased risk for CRS.

9.
Molecules ; 29(5)2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38474685

RESUMO

Microplastics (MP) encompass not only plastic products but also paint particles. Marine microdebris, including MP, was retrieved from five sampling stations spanning Nagasaki-Goto island and was classified into six types, primarily consisting of MP (A), Si-based (B), and Cu-based (C) paint particles. Type-A particles, i.e., MP, were exceedingly small, with 74% of them having a long diameter of 25 µm or less. The vertical distribution of type C, containing cuprous oxide, exhibited no depth dependence, with its dominant size being less than 7 µm. It was considered that the presence of type C was associated with a natural phenomenon of MP loss. To clarify this, polypropylene (PP) samples containing cuprous oxide were prepared, and their accelerated degradation behavior was studied using a novel enhanced degradation method employing a sulfate ion radical as an initiator. Infrared spectroscopy revealed the formation of a copper soap compound in seawater. Scanning electron microscopy/energy-dispersive X-ray spectroscopy analysis indicated that the chemical reactions between Cl- and cuprous oxide produced Cu+ ions. The acceleration of degradation induced by the copper soap formed was studied through the changes in the number of PP chain scissions, revealing that the presence of type-C accelerated MP degradation.

10.
Sci Rep ; 14(1): 3902, 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38366080

RESUMO

It is essential to develop a mechanism for lowering the molecular weight of polyolefins to achieve biodegradation in seawater. In this study, a polypropylene/polylactic acid blend sample was first subjected to photodegradation pretreatment, and it was confirmed that in pure water, the acid generated promotes the polypropylene degradation (autoxidation), while in alkaline seawater, the promotion was inhibited by a neutralization reaction. In the autoxidation of polyolefins in alkaline seawater, aqueous Cl- was also the inhibitor. However, we found that autoxidation could be initiated even in seawater by lowering the pH and using dissociation of ClOH (called blister degradation). The blister degradation mechanism enabled autoxidation, even in seawater, by taking advantage of the ability of diatoms to secrete transparent exopolymer particles (TEP) to prevent direct contact between the surface layer of polyolefins and alkaline seawater. We named blister degradation in seawater with diatoms as bio-blister degradation and confirmed its manifestation using linear low-density polyethylene (LLDPE)/starch samples by SEM, IR, DSC and GPC analysis.

11.
Polymers (Basel) ; 16(2)2024 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-38276701

RESUMO

The alteration of an ultraviolet light absorber (UVA: UV-326) in polymers (PP, HDPE, LDPE, PLA, and PS) over time during degradation was studied using an enhanced degradation method (EDM) involving sulfate ion radicals in seawater. The EDM was employed to homogeneously degrade the entire polymer samples containing the UVA. The PP and PS samples containing 5-phr (phr: per hundred resin) UVA films underwent rapid whitening, characterized by the formation of numerous grooves or crushed particles. Notably, the UVA loss rate in PS, with the higher glass transition temperature (Tg), was considerably slower. The behavior of crystalline polymers, with the exception of PS, was analogous in terms of the change in UVA loss rate over the course of degradation. The significant increase in the initial loss rate observed during EDM degradation was due to microplasticization. A similar increase in microplasticization rate occurred with PS; however, the intermolecular interaction between UVA and PS did not result in as pronounced an increase in loss rate as observed in other polymers. Importantly, the chemical structure of UVA remained unaltered during EDM degradation. These findings revealed that the primary cause of UVA loss was leaching from the polymer matrix.

12.
ACS Appl Mater Interfaces ; 16(5): 5725-5734, 2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38270103

RESUMO

One of the key components of the fuel cell stack is a metallic bipolar plate (MBP) that plays multiple roles, such as current collector, fuel and oxidant distributor, and mechanical support. However, corrosion and consequent metal elution are major drawbacks of the MBP because they diminish the efficiency and power performance of membrane-electrode assemblies (MEAs). Herein, we show that the crown ether (CE) additive can simultaneously inhibit surface corrosion of the MBP and act as a scavenger for eluted metal ions to alleviate contamination of other components. From the electrochemical measurement, high-resolution imaging, and elemental analysis, we have found that the CE undergoes electrolytic decomposition and makes an efficient protective layer in an in situ manner. This layer prevents direct contact between the MBP and electrolyte as well as the dissolution of metal ions into the electrolyte. In addition, we demonstrate that the CE can improve the recovery protocol of the MEA owing to the formation of host-guest complexes between the CE and metal cations. These results provide key insights into the design of high-performance MBPs for proton-exchange membrane fuel cells.

13.
Clin Exp Otorhinolaryngol ; 17(1): 78-84, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38228134

RESUMO

OBJECTIVES: This study aimed to compare the oncological outcomes of partial versus superficial or total parotidectomy for superficial T1 or T2 primary parotid cancers and investigate their prognostic factors and recurrence patterns. METHODS: The medical records of 77 patients with T1-2 primary parotid malignancies between May 2003 and March 2022 were retrospectively reviewed. Univariate and multivariate analyses were performed to evaluate the prognostic factors associated with overall survival, disease-free survival, and local and distant recurrence. RESULTS: The average follow-up duration was 70.2 months (range, 12-202 months). The 5-year overall and disease-free survival rates were 88.7% and 77.1%, respectively. Twenty-two patients underwent partial parotidectomy, and 55 underwent superficial or total parotidectomy. There were no significant differences in the disease recurrence (P=0.320) and mortality rates (P=0.884) of the partial and superficial or total parotidectomy groups. The mean duration of surgery was shorter and the overall complication rates were significantly lower in the partial group than in the superficial or total parotidectomy group (P=0.049). Sixteen cases of recurrence occurred during the study period (20.8%). Univariate analyses showed that high-grade tumors (P=0.006), lymphovascular invasion (P=0.046), and regional lymph node metastasis (P=0.010) were significant risk factors for disease recurrence. Multivariate analysis identified regional lymph node metastasis as an independent prognostic factor for disease recurrence (P=0.027), and lymphovascular invasion as an independent prognostic factor for overall survival (P=0.033). CONCLUSION: The conservative surgical approach of partial parotidectomy can yield oncological outcomes comparable to those of superficial or total parotidectomy with careful patient selection in T1-2 parotid cancers.

14.
Aesthet Surg J ; 44(3): 319-326, 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-37548270

RESUMO

The utilization of botulinum neurotoxin in the field of body contouring is on the rise. Body contouring procedures typically focus on specific muscle groups such as the superior trapezius, deltoid, and lateral head of the triceps brachii. The authors propose identifying optimal injection sites for botulinum neurotoxin to achieve desired aesthetic contouring of the shoulders and arms. The authors conducted a modified Sihler's staining method on specimens of the superior trapezius, deltoid, and lateral head of the triceps brachii muscles, totaling 16, 14, and 16 specimens, respectively. The neural distribution exhibited the most extensive branching patterns within the horizontal section (between 1/5 and 2/5) and the vertical section (between 2/4 and 4/4) of the superior trapezius muscle. In the deltoid muscle, the areas between the anterior and posterior deltoid bellies, specifically within the range of the horizontal 1/3 to 2/3 lines, showed significant intramuscular arborization. Furthermore, the middle deltoid muscle displayed arborization patterns between 2/3 and the axillary line. Regarding the triceps brachii muscle, the lateral heads demonstrated arborization between 4/10 and 7/10. The authors recommend targeting these regions, where maximum arborization occurs, as the optimal and safest points for injecting botulinum toxin.


Assuntos
Toxinas Botulínicas , Humanos , Ombro , Braço , Músculo Esquelético , Injeções
15.
Plast Reconstr Surg ; 153(3): 706-711, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37104463

RESUMO

BACKGROUND: The purpose of this study was to determine the distribution of the angular artery (AA) in the medial canthal area with the aim of defining an arterial course to prevent AA injury during facial surgery in this region. METHODS: The authors dissected 36 hemifaces of 18 cadavers. The horizontal distance from the vertical level through the medial canthus to the AAs was measured. The AA course of each specimen was then recorded, and all of them were then superimposed to determine the AA course. The diameter and depth of the AA around the medial canthal area were also investigated using ultrasonography on living subjects. RESULTS: The horizontal distances from the medial canthus level and 2 cm below the medial canthus were 9.0 ± 2.0 mm (mean ± SD) and 1.9 ± 2.4 mm, respectively. The superimposed image demonstrated that most of the AAs were present inside the vertical line through the medial canthus. Ultrasonography indicated that the AA was 2.3 ± 0.9 mm below the skin and 1.7 ± 0.3 mm in diameter. CONCLUSIONS: The AA course was relatively constant along the nasojugal fold. The AAs were most often present between the middle of the medial canthus and the facial midline, but were very scarce in both the medial and lateral thirds. Knowledge of the detailed course of the AA may help surgeons to avoid arterial injury and decrease the risk of surgical morbidities around the nasal root and medial canthal area.


Assuntos
Aparelho Lacrimal , Lesões do Sistema Vascular , Humanos , Face/diagnóstico por imagem , Face/cirurgia , Nariz/irrigação sanguínea , Ultrassonografia , Artérias/diagnóstico por imagem
16.
Plast Reconstr Surg ; 153(2): 322e-325e, 2024 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36988646

RESUMO

SUMMARY: The frontalis muscle is situated across the forehead and is a representative target muscle for botulinum neurotoxin (BoNT) injections aimed at treating horizontal wrinkles in this region. However, a lack of anatomical information regarding the shape and thickness of the frontalis may lead to unexpected adverse effects, such as ptosis and samurai eyebrows, caused by the lack of detail on anatomical variation. Achieving the maximum effect using the minimal amount of BoNT requires a precise injection into the frontalis muscle. The anatomical factors associated with BoNT injection into the frontalis muscle have been reviewed in the current study. Up-to-date understanding of the localization of the BoNT injection point according to an updated understanding of the anatomy leads to more accurate localization of the injection point into the frontalis muscle. Optimal injection sites have been provided for the frontalis muscle, and the injection method has been recommended. The authors suggest optimal injection sites according to the external anatomical landmarks of the forehead. Furthermore, these proposals could aid in a more precise procedure that avoids the deleterious effects of BoNT.


Assuntos
Toxinas Botulínicas Tipo A , Fármacos Neuromusculares , Humanos , Testa/anatomia & histologia , Injeções , Músculos Faciais/anatomia & histologia
17.
Plast Reconstr Surg ; 153(3): 591-599, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37010473

RESUMO

BACKGROUND: The deep temporal fascia provides anchoring during thread lifting, which is a minimally invasive face-lifting procedure. However, anatomical studies involving the deep temporal fascia in addition to effective and safe thread-lifting procedures are scarce. The authors clarified the anatomy of the superficial layer of the deep temporal fascia and its surrounding structure using ultrasonography, histologic sections, and cadaveric dissection to propose an effective thread-lifting procedure guideline. METHODS: The authors included 20 healthy young participants from the Republic of Korea. Real-time, two-dimensional, B-mode ultrasonography was performed. Longitudinal scanning was performed along three vertical lines: the line passing through the jugale, the anterior margin of the condylar process of the mandible, and the midpoint between the jugale and anterior margin of the condylar process. Histologic samples from three fresh adult cadavers were harvested from 2.5 cm above and below the zygomatic arch. Eighteen fresh adult hemifaces of cadavers from the Republic of Korea (six men and three women, aged 67.3 ± 7.2 years) were used to confirm the morphology of the deep temporal fascia. RESULTS: The superficial layer of the deep temporal fascia crossed the zygomatic arch and was connected to the origin of the zygomaticus major muscle at the line passing through the jugale. The superficial layer continued inferiorly to the parotidomasseteric fascia at the line passing through the midpoint and condylar process of the mandible. CONCLUSION: This study yielded the novel anatomy of the superficial layer of the deep temporal fascia, and this anatomical structure may be used for an ideal thread-lifting procedure.


Assuntos
Fáscia , Ritidoplastia , Masculino , Adulto , Humanos , Feminino , Fáscia/diagnóstico por imagem , Fáscia/anatomia & histologia , Zigoma/cirurgia , Cabeça/cirurgia , Ritidoplastia/métodos , Cadáver
18.
Skin Res Technol ; 29(12): e13535, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38093502

RESUMO

BACKGROUND: Thread lifting is a common minimally invasive plastic surgery procedure. Parotid gland injury caused by thread lifting is a known complication; however, visual evidence of this complication is lacking. OBJECTIVES: This study aimed to present cases of parotid gland injury by thread lifting shown using ultrasound and to discuss the importance of ultrasound detection of the location of the parotid gland before thread insertion. METHODS: This study included eight patients diagnosed with parotid gland perforation and one with parotid duct injury due to threads from November 2020 to October 2022. RESULTS: Six patients showed tenderness and swelling, three were asymptomatic, and one with duct injury showed severe swelling and pain. Although the severity and duration of symptoms have differed, we confirmed the progress of improvement with conservative treatment and confirmed ultrasound findings progressed. CONCLUSIONS: Using ultrasound to detect the parotid gland's location before thread lifting might reduce the chance of parotid duct injury. Identifying immediate parotid duct or gland injury with ultrasound can help to act quickly for delayed pain or swelling and reduce the likelihood of additional complications.


Assuntos
Glândula Parótida , Ductos Salivares , Humanos , Glândula Parótida/diagnóstico por imagem , Glândula Parótida/cirurgia , Ductos Salivares/diagnóstico por imagem , Ductos Salivares/cirurgia , Ultrassonografia , Dor , Ultrassonografia de Intervenção
19.
J Clin Med ; 12(24)2023 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-38137719

RESUMO

Myelodysplastic neoplasm (MDS) is a heterogeneous group of myeloid neoplasms affected by germline and somatic genetic alterations. The incidence of MDS increases with age but rarely occurs at a young age. We investigated the germline and somatic genetic alterations of Korean patients with young-onset MDS (<40 years). Among the thirty-one patients, five (16.1%) had causative germline variants predisposing them to myeloid neoplasms (three with GATA2 variants and one each with PGM3 and ETV variants). We found that PGM3 deficiency, a subtype of severe immunodeficiency, predisposes patients to MDS. Somatic mutations were identified in 14 patients (45.2%), with lower rates in patients aged < 20 years (11.1%). Nine (29%) patients had U2AF1 S34F/Y mutations, and patients with U2AF1 mutations showed significantly worse progression-free survival (p < 0.001) and overall survival (p = 0.006) than those without U2AF1 mutations. A UBA1 M41T mutation that causes VEXAS syndrome was identified in a male patient. In conclusion, a germline predisposition to myeloid neoplasms occurred in ~16% of young-onset MDS patients and was largely associated with primary immunodeficiencies, including GATA2 deficiency. Furthermore, the high frequency of somatic U2AF1 mutations in patients with young-onset MDS suggests the presence of a distinct MDS subtype.

20.
Biomedicines ; 11(9)2023 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-37760848

RESUMO

Neck necrotic lymph nodes commonly correspond to metastasis or benign inflammatory conditions such as Kikuchi disease and tuberculosis. Ultrasound-guided biopsy can be used for differential diagnosis, but results may be unclear. Therefore, this study aimed to identify target microRNAs (miRNAs) and genes for the differential diagnosis of inflammatory and malignant necrotic lymph nodes. We selected six inflammatory lymphadenitis formalin-fixed paraffin-embedded (FFPE) samples that showed internal necrosis and five cancer necrotic FFPE samples. Tissue microarray (TMA) was performed to separate the necrotic and cancerous portions. Total RNA was extracted from six pairs of separated inflammatory necrosis, five pairs of cancer necrosis, and cancer portions. Differentially expressed miRNAs were analyzed by comparing inflammatory necrosis, cancer, and cancer necrosis. Seventeen miRNAs were upregulated in cancer necrosis compared to inflammatory necrosis, and two miRNAs (hsa-miR-155-5p and hsa-miR-146b-5p) showed lower expression in cancer necrotic cells. Nineteen miRNAs that were differentially expressed between inflammatory and cancer necrosis were analyzed for target gene expression; these transcripts demonstrated a clear relationship with cancer. The differentially expressed miRNAs in inflammatory and tumor necrosis were associated with cancer-related pathways. These preliminary results might help in the differential diagnosis of cervical metastatic necrotic lymphadenopathy and avoiding unnecessary excisional biopsies.

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