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Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the extent of defects in T and innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized the primary T, natural killer (NK) and helper ILCs of six patients carrying two novel loss of function mutation in DIAPH1 and Jurkat cells after DIAPH1 knockdown. Mutations were identified by whole exome sequencing. T-cell immunophenotyping, proliferation, migration, cytokine signaling, survival, and NK cell cytotoxicity were studied via flow cytometry-based assays, confocal microscopy, and real-time qPCR. CD4+ T cell proteome was analyzed by mass spectrometry. p.R351* and p.R322*variants led to a significant reduction in the DIAPH1 mRNA and protein levels. DIAPH1-deficient T cells showed proliferation, activation, as well as TCR-mediated signaling defects. DIAPH1-deficient PBMCs also displayed impaired transwell migration, defective STAT5 phosphorylation in response to IL-2, IL-7 and IL-15. In vitro generation/expansion of Treg cells from naïve T cells was significantly reduced. shRNA-mediated silencing of DIAPH1 in Jurkat cells reduced DIAPH1 protein level and inhibited T cell proliferation and IL-2/STAT5 axis. Additionally, NK cells from patients had diminished cytotoxic activity, function and IL-2/STAT5 axis. Lastly, DIAPH1-deficient patients' peripheral blood contained dramatically reduced numbers of all helper ILC subsets. DIAPH1 deficiency results in major functional defects in T, NK cells and helper ILCs underlining the critical role of formin DIAPH1 in the biology of those cell subsets.
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Forminas , Células Asesinas Naturales , Humanos , Forminas/genética , Células Asesinas Naturales/inmunología , Células Asesinas Naturales/metabolismo , Masculino , Células Jurkat , Femenino , Mutación , Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas Adaptadoras Transductoras de Señales/deficiencia , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Niño , Inmunidad Innata , Preescolar , Citocinas/metabolismo , Transducción de Señal , Inmunofenotipificación , Linfocitos T/inmunología , Linfocitos T/metabolismoRESUMEN
BACKGROUND: Tertiary hyperparathyroidism describes the autonomous and excessive secretion of parathyroid hormone (PTH) by the parathyroid glands after longstanding secondary hyperparathyroidism in chronic kidney disease. Brown tumors are a sign of uncontrolled hyperparathyroidism. In this case, we have reported a refractory and destructive hyperparathyroidism storm. Also, it presented with atypical onset and unexpected adenoma location. CASE PRESENTATION: A 37-year-old man was diagnosed with end-stage kidney disease 22 years ago. He has been undergoing dialysis treatment since that time. Recently, he was admitted to the ophthalmology department due to the unilateral anterior bulging of the right eye and drooping of the eyelid. Magnetic resonance imaging exhibited an extraconal mass lesion located in the right orbital posterior superolateral position. Computerized tomography scans considered expansile bone lesion with peripheral calcification and originating from the sphenoid wing. The bone mass lesion was resected via craniotomy due to the compressive effect. The pathological findings were consistent with brown tumors. Plasma intact PTH level was 4557 pg/mL. The patient informed that he underwent parathyroidectomy and two leg fractures operation in a medical query. Parathyroid scintigraphy determined three distinct foci consistent with adenomas and one of them was in mediastenum. Second parathyroidectomy was recommended to the patient but the patient refused surgery. Despite his medication and dialysis regimen being revised, PTH levels were maintained at higher levels in follow-up. CONCLUSIONS: We presented a hyperparathyroidism case that was resistant to all treatments and exhibited all the severe complications in a long-term dialysis patient. Furthermore, this case has revealed the importance and difficulty of secondary hyperparathyroidism management.
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Hiperparatiroidismo Secundario , Neoplasias , Osteítis Fibrosa Quística , Masculino , Humanos , Adulto , Diálisis Renal , Hiperparatiroidismo Secundario/complicaciones , Hiperparatiroidismo Secundario/diagnóstico por imagen , Osteítis Fibrosa Quística/diagnóstico por imagen , Osteítis Fibrosa Quística/etiología , Glándulas Paratiroides/diagnóstico por imagenRESUMEN
OBJECTIVE: Surgical excisional biopsy is accepted as the standard of care approach in the diagnosis of lympho- mas. Financial issues related to the increased cost and the invasive nature of the procedure forced physicians to use some alternative diagnostic methods. Percutaneous core needle biopsy, which gained a reputation for the diagnosis of lymphomas with the advent of improved pathological, immunohistochemical, and molecular analysis, made it possible to have an accurate diagnosis with limited tissue samples. In this retrospective study, we aimed to compare the diagnostic yield of surgical excisional biopsy and core needle biopsy. MATERIALS AND METHODS: This study included 131 patients who were diagnosed with lymphoma with a nodal biopsy which was acquired via surgical excisional biopsy or core needle biopsy between 2014 and 2020 in our center. Around 68 patients underwent surgical excisional biopsy and the remaining 63 underwent core needle biopsy. Samples that allowed to the identification of the exact tumor type and/or subtype were accepted as fully diagnostic. Sufficient amount of tissue that the pathologist could have any suspicious findings considering malignant lymphoma was classified as partial diagnostic group. Inadequate samples were the ones who were not enough to report any final diagnosis. RESULTS: The patients who underwent a core needle biopsy were significantly older than the patients who underwent to surgical excisional biopsy (56.8 vs. 47.6, P = .003). Despite the full diagnostic ability of surgical excisional biopsy outperformed core needle biopsy (95.2 % vs. 83.8 %, P=.035), in 92.6% of the patients whose tissue samples were obtained via core needle biopsy were accepted to have a sufficient diagnosis to initiate the treatment and not required a second biopsy, which was comparable with the ones achieved by surgical excisional biopsy (92.6% vs. 95.2%, P = .720). CONCLUSION: According to the results obtained in our study, we may conclude that core needle biopsy is a viable and comparable alternative to surgical excisional biopsy, offering a less invasive and less-expansive approach.
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OBJECTIVE: The aim of this study was to evaluate the demographic data, molecular epidemiology, and in vitro antifungal susceptibility results of patients with Aspergillus isolated from various clinical specimens. METHODS: A total of 44 Aspergillus strains were studied. The definition of invasive aspergillosis in patients was made according to European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG) criteria. Strains were phenotypically and molecularly identified. Demographic characteristics of patients and genotypes of strains were evaluated. Phylogenetic analysis was done by the The Unweighted Pair-Group Method with Arithmetic Mean (UPGMA). Antifungal susceptibility of strains was determined according to The Clinical and Laboratory Standards Institute (CLSI)-M61-Ed2 and The European Committee on Antimicrobial Susceptibility Testing (EUCAST). RESULTS: A total of 11 patients were classified as proven and 33 as probable invasive aspergillosis. There was a statistically significant difference in age groups, subdisease, neutropenic, and receiving chemotherapy between groups. A total of 23 strains were identified as Aspergillus fumigatus, 12 as Aspergillus niger, 6 as Aspergillus flavus, and 3 as Aspergillus terreus. Phylogenetic analysis revealed five different genotypes. No statistical difference was found in the comparisons between patients groups and genotype groups. There was a statistically significant difference between genotype groups and voriconazole, posaconazole, and itraconazole Minimum Inhibition Concentration (MIC). CONCLUSION: Accurate identification of strains and antifungal susceptibility studies should be performed due to azole and amphotericin B resistance. Genotyping studies are important in infection control due to identifying sources of infection and transmission routes.
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Aspergilosis , Infecciones Fúngicas Invasoras , Humanos , Antifúngicos , Epidemiología Molecular , Filogenia , Aspergilosis/tratamiento farmacológico , Aspergilosis/epidemiología , Aspergilosis/microbiología , Aspergillus/genéticaRESUMEN
SUMMARY OBJECTIVE: The aim of this study was to evaluate the demographic data, molecular epidemiology, and in vitro antifungal susceptibility results of patients with Aspergillus isolated from various clinical specimens. METHODS: A total of 44 Aspergillus strains were studied. The definition of invasive aspergillosis in patients was made according to European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group (EORTC/MSG) criteria. Strains were phenotypically and molecularly identified. Demographic characteristics of patients and genotypes of strains were evaluated. Phylogenetic analysis was done by the The Unweighted Pair-Group Method with Arithmetic Mean (UPGMA). Antifungal susceptibility of strains was determined according to The Clinical and Laboratory Standards Institute (CLSI)-M61-Ed2 and The European Committee on Antimicrobial Susceptibility Testing (EUCAST). RESULTS: A total of 11 patients were classified as proven and 33 as probable invasive aspergillosis. There was a statistically significant difference in age groups, subdisease, neutropenic, and receiving chemotherapy between groups. A total of 23 strains were identified as Aspergillus fumigatus, 12 as Aspergillus niger, 6 as Aspergillus flavus, and 3 as Aspergillus terreus. Phylogenetic analysis revealed five different genotypes. No statistical difference was found in the comparisons between patients groups and genotype groups. There was a statistically significant difference between genotype groups and voriconazole, posaconazole, and itraconazole Minimum Inhibition Concentration (MIC). CONCLUSION: Accurate identification of strains and antifungal susceptibility studies should be performed due to azole and amphotericin B resistance. Genotyping studies are important in infection control due to identifying sources of infection and transmission routes.
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Malignant proliferating pilar tumors are very rare adnexial lesions that can be confused with other skin neoplasms. The authors present four patients with malignant proliferating trichilemmal tumors located on the scalp. A review of the literature search for malignant proliferating pilar tumors and treatments was performed.
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Background & objectives: Human papillomavirus (HPV) infection is known to be the main cause of cervical cancer. This study aimed to determine the prevalence of high-risk HPV genotypes in smear specimens taken from women who had normal or abnormal cytology using a multiplex PCR method. Methods: The study included 270 women aged between 19 and 69 yr with or without suspicious cervical abnormalities. A Pap smear sample from each patient was cytologically examined, and HPV typing was performed using a multiplex fluorescent PCR method. Those who were high-risk HPV positive and had a normal or abnormal cytology were further evaluated by colposcopy and biopsy. Results: The total HPV positivity was 43 per cent (116/270). HPV positivity in the patients with an abnormal cytology was 77 per cent (33/43), whereas it was only 37 per cent (83/227) in women with normal cytology, which showed a significant difference (P<0.05). HPV positivity was also related to the age group when all the subjects were considered (P<0.05), and the highest prevalence of HPV infection was in the 30-39 yr age group. High-risk HPV types 16, 18, 31, 35, 51 and 56 were more common in the normal cytology patients, whereas high-risk HPV types 16, 31, 35, 45, 58 and 68 were commonly found in the abnormal cytology patients. Interpretation & conclusions: The determination of high-risk HPV genotypes in women with clinically suspicious cervical lesions should be conducted during an annual follow-up, irrespective of a normal or abnormal cytology by the age of 30 years or above.
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Infecciones por Papillomavirus , Neoplasias del Cuello Uterino , Humanos , Femenino , Embarazo , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Virus del Papiloma Humano , Reacción en Cadena de la Polimerasa Multiplex , Infecciones por Papillomavirus/epidemiología , Infecciones por Papillomavirus/genética , Neoplasias del Cuello Uterino/patología , Prueba de Papanicolaou , Colposcopía , Papillomaviridae/genética , Frotis VaginalRESUMEN
AIM OF THE STUDY: We investigated protective effect of sodium selenite (Se) on hypothyroidism-induced impairments in, Morris water maze (MWM), long-term potentiation (LTP) and hippocampal neurogenesis male Wistar rats aged of 2 months. MATERIALS AND METHODS: Hypothyroidism was induced by administration of propylthiouracil (Ptu, 1 mg/kg/d) solution to the rats from postnatal day 60 for 81 days with or without Se (0.5mg/kg/d). Neurogenesis was examined by Ki-67 immunohistochemical staining. Se values on plasma and hippocampus were measured with inductively coupled plasma-mass spectrometry (ICP-MS). RESULTS: Measurement of fT3 and fT4 levels confirmed that the fT3 levels, but not fT4, in Ptu-treated rats (5435.44±816.05 fg/ml, p < 0.05) has returned to control values (8721.66±2567.68 fg/ml) by Se treatment (8661.65±711.43 fg/ml). Analysis of learning performance in water escape learning task showed that Se supplementation disappeared memory deficit in Ptu-treated rats as shown by significantly decreased time spent in the target quadrant (33.7±0.24% in control group; 26.1±0.48% in Ptu-group, p < 0.05; 33.9±0.44 in Ptu+Se group), although there was no significant difference among groups in any measurement of learning performance on the last day. Considering LTP, Se supplementation improved the deficit in synaptic plasticity in Ptu-treated rats, as shown by significant increase in the excitatory postsynaptic potential slope (% 243±31 in control group; 172±49 in Ptu-group, p < 0.05; 222±65 in Ptu+Se group) without affecting of the impairment in somatic plasticity. Se supplementation did not improve the decrease in the number of progenitor cells in the subgranular layer (SGL) of dentate gyrus (DG) of Ptu treated rats. CONCLUSIONS: These findings suggest that selenium supplementation in hypothyroid patients may improve learning and memory disorders with different physiological mechanisms.HighlightsSe increased serum fT3 levels and hippocampus Se levels in hypothyroid rats.Se attenuated impairment of population spike-LTP in hypothyroid ratsHypothyroidism disrupts neurogenesis process in the dentate gyrus of hippocampus.Se supplementation could not increase new born cells in hypothyroid rats.
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Hipotiroidismo , Selenito de Sodio , Animales , Hipocampo , Hipotiroidismo/inducido químicamente , Hipotiroidismo/complicaciones , Hipotiroidismo/tratamiento farmacológico , Potenciación a Largo Plazo , Masculino , Trastornos de la Memoria , Neurogénesis , Plasticidad Neuronal/fisiología , Ratas , Ratas Wistar , Selenito de Sodio/efectos adversosRESUMEN
Abstract Introduction: This study aimed to review the surgical excision results and pathological diagnostic features of rarely observed intracardiac masses in the light of the literature. Diagnosis and treatment approaches and complications were evaluated. Methods: Forty patients (26 females, mean age 52.1±18.1 years, and 14 males, mean age 48.1±20.5 years), who had undergone surgery for intracardiac mass between January 2008 and December 2018, were included in this study. The patients' data were analyzed retrospectively from the medical records of both centers. Results: When the pathological diagnoses were examined, 85.8% of the masses (n=35) were observed to be benign (benign tumor + hydatid cyst) and 14.2% (n=5) were malignant tumors. The masses were most commonly located in the left atrium (75%, n=30), and this was followed by the right ventricle (12.5%, n=5), right atrium (7.5%, n=3), and left ventricle (5%, n=2). Of the patients, 7.5% (n=3) died during the early postoperative period, while the remaining 92.5% (n=37) were discharged with healing. In the histopathological diagnosis of the patients, in whom in-hospital major adverse cardiovascular events were observed, there was malignancy in two cases. Conclusion: Intracardiac masses, which have pathological features, are severe life-threatening problems. In-hospital mortality is frequent, especially in malignant tumors.
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Humanos , Masculino , Femenino , Adulto , Anciano , Equinococosis , Neoplasias Cardíacas/cirugía , Neoplasias Cardíacas/diagnóstico por imagen , Estudios Retrospectivos , Atrios Cardíacos/cirugía , Ventrículos Cardíacos/cirugía , Ventrículos Cardíacos/diagnóstico por imagen , Persona de Mediana EdadRESUMEN
OBJECTIVE: To investigate the prognostic and predictive value of PD-L1 expression in operated non-small cell lung cancer (NSCLC) patients and to analyze its relationship with clinicopathological factors. MATERIAL AND METHOD: A total of 90 patients with operable NSCLC were included in this retrospective single center study. Tumor blocks of patients were stained immunohistochemically with PD-L1 polyclonal antibody. When evaluated immunohistochemically and statistically, patients with tumor staining percentage of ≥5%, those with +2 and +3 membranous staining intensity, and those with ≥50% H-Score were considered positive. The relationship between PD-L1 expression status and clinicopathological features in addition to the prognostic effect of PD-L1 on survival were statistically analyzed. RESULTS: The frequency of PD-L1 expression was 37%, 15% and 5% according to the staining percentage, staining intensity, and the H-Score, respectively. There was no significant relationship between PD-L1 expression and age, gender, smoking, tumor stage and histological subtype (p > 0.05). However, PD-L1 expression was relatively higher in patients < 65 years of age, men, smokers, patients with advanced tumor stage, and squamous cell subtype. Based on the analysis of the H-Score, no significant difference was noted regarding disease-free survival time between PD-L1 positive and PD-L1 negative patients (median 20 [95% CI 1.2-38.7] months vs. median 27 [95% CI 17.5-36] months, p=0.208). However, overall survival time was significantly shorter in PD-L1 positive compared to PD-L1 negative patients (median 24 months [95% CI 9.9-38] vs. median 48 months [95% CI 33.6-62.3], p=0.049). CONCLUSION: In patients with high PD-L1 expression, the biological behavior of the cancer was more aggressive, and the life expectancy was shorter. PD-L1 expression seems to be a poor prognostic marker in NSCLC patients.
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Antígeno B7-H1/metabolismo , Biomarcadores de Tumor/análisis , Carcinoma de Pulmón de Células no Pequeñas/metabolismo , Carcinoma de Pulmón de Células no Pequeñas/cirugía , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/cirugía , Adulto , Anciano , Antígeno B7-H1/análisis , Carcinoma de Pulmón de Células no Pequeñas/patología , Femenino , Humanos , Inmunohistoquímica , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Pronóstico , Estudios RetrospectivosRESUMEN
INTRODUCTION: This study aimed to review the surgical excision results and pathological diagnostic features of rarely observed intracardiac masses in the light of the literature. Diagnosis and treatment approaches and complications were evaluated. METHODS: Forty patients (26 females, mean age 52.1±18.1 years, and 14 males, mean age 48.1±20.5 years), who had undergone surgery for intracardiac mass between January 2008 and December 2018, were included in this study. The patients' data were analyzed retrospectively from the medical records of both centers. RESULTS: When the pathological diagnoses were examined, 85.8% of the masses (n=35) were observed to be benign (benign tumor + hydatid cyst) and 14.2% (n=5) were malignant tumors. The masses were most commonly located in the left atrium (75%, n=30), and this was followed by the right ventricle (12.5%, n=5), right atrium (7.5%, n=3), and left ventricle (5%, n=2). Of the patients, 7.5% (n=3) died during the early postoperative period, while the remaining 92.5% (n=37) were discharged with healing. In the histopathological diagnosis of the patients, in whom in-hospital major adverse cardiovascular events were observed, there was malignancy in two cases. CONCLUSION: Intracardiac masses, which have pathological features, are severe life-threatening problems. In-hospital mortality is frequent, especially in malignant tumors.
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Equinococosis , Neoplasias Cardíacas , Adulto , Anciano , Femenino , Atrios Cardíacos/cirugía , Neoplasias Cardíacas/diagnóstico por imagen , Neoplasias Cardíacas/cirugía , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/cirugía , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
PURPOSE: To investigate the relationship between CD133 positivity and radiotherapy (RT) response in early stage glottic laryngeal cancers. METHODS: Thirty seven patients with early-stage glottic laryngeal carcinoma who were treated with primary RT were evaluated. Patients with regular follow-up of at least 3 years were included in the study. Patients who had previously received chemotherapy for laryngeal surgery or underwent surgery were excluded. The patients were divided into two groups as recurrent and non-recurrent. These two groups were compared in terms of CD133 expression by immunohistochemical method. RESULTS: There were 37 patients in the study. Ten patients had recurrence and seven (70%) had CD133 positive and three had CD133 negative. Of 27 patients who had no recurrence, 16 (59%) had CD133 positive and 11 (41%) had CD133 negative. 7 (70%) of ten patients with recurrence were found to be positive for CD133; There was no statistically significant difference between recurrent and non-recurrent patient groups in terms of CD133 positivity (p > 0.05). There was no correlation between the final CD133 score and recurrence status as well (p > 0.05). CONCLUSION: There was no relationship between radiotherapy response and CD133 staining in early-stage glottic laryngeal cancers. It is the largest study about CD133 and RT sensitivity in early stage glottic carcinomas.
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Carcinoma de Células Escamosas , Neoplasias Laríngeas , Carcinoma de Células Escamosas/patología , Glotis/patología , Humanos , Neoplasias Laríngeas/patología , Neoplasias Laríngeas/radioterapia , Laringectomía , Recurrencia Local de Neoplasia/patología , Estadificación de Neoplasias , Células Madre Neoplásicas , Estudios RetrospectivosRESUMEN
This study aimed to evaluate the biological and clinical significance of apelin-36 in breast cancer and to compare apelin-36 expression and apoptotic index in both breast tissue and metastatic lymph nodes in patients with invasive breast carcinoma. In this study, both tumor tissue and metastatic lymph nodes of the same patient were collected from 60 cases of invasive breast carcinoma patients (IDC, ILC) and 20 cases of normal breast tissue with no tumor from mammoplasty were used as the control group. The expression of apelin was examined with immunohistochemically, and the apoptotic index was examined with TUNEL methods. According to Kruskal-Wallis analysis, there was a significant difference between IDC and the control group when the apelin expression was compared between the breast tissues (p = 0.001). There were significant differences between the three groups when comparing relationships with apoptotic index (p < 0.001). According to the Mann-Whitney U test, both tumor size and expression of apelin in lymph nodes in ILCs were significantly higher than IDCs. (p = 0.026, p = 0.024, respectively). According to correlation analysis, there was a good correlation between the expression of apelin in breast tissue and apelin expression in lymph nodes (p = 0.000). It is also found a similar relationship in terms of the apoptotic index (p = 0.000). In addition, the negative correlation was found between apelin expression and the apoptotic index in breast tissues (p = 0.003). Based on these results, apelin-36 can be used as a marker for determining the metastasis potential in invasive breast cancer.
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Apelina/metabolismo , Neoplasias de la Mama/patología , Carcinoma Ductal de Mama/patología , Metástasis Linfática/patología , Factores de Edad , Apoptosis/fisiología , Biomarcadores de Tumor/metabolismo , Neoplasias de la Mama/metabolismo , Carcinoma Ductal de Mama/metabolismo , Estudios de Casos y Controles , Femenino , Humanos , Inmunohistoquímica , Antígeno Ki-67/metabolismo , Persona de Mediana EdadRESUMEN
Gain of function mutations in the p110δ catalytic subunit of the phosphatidylinositol-3-OH kinase (PIK3CD) classified as activated phosphoinositide 3-kinase delta syndrome (APDS) are the cause of a primary immunodeficiency characterized by recurrent sinopulmonary infections, and lymphoproliferation. Previously, autoimmunity and Epstein-Barr virus-related B-cell lymphoma have been documented for patients with APDS; here, we present a case that extends the picture, as the patient shows the full diagnostic criteria of hemophagocytic lymphohistiocytosis at 6 months of age. He experienced Hodgkin lymphoma as a 2.5-year-old baby. Next-generation sequencing returned a de novo heterozygous missense variant in PIK3CD (LRG_191t1: c.3061G>A; p.Glu1021Lys), confirming the primary immunodeficiency. After 2 courses of ifosfamide, cisplatin, and etoposide combined with brentuximab, the patient successfully underwent allogeneic hematopoietic stem cell transplantation from his HLA full matched sister, and he has been well for 18 months after that. The hematologist treating Hodgkin lymphoma and/or hemophagocytic lymphohistiocytosis should be vigilant about the possible underlying immune deficiency, and they should consider APDS in their differential diagnosis.
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Fosfatidilinositol 3-Quinasa Clase I/genética , Enfermedad de Hodgkin/patología , Linfohistiocitosis Hemofagocítica/patología , Mutación , Enfermedades de Inmunodeficiencia Primaria/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Terapia Combinada , Trasplante de Células Madre Hematopoyéticas , Enfermedad de Hodgkin/complicaciones , Enfermedad de Hodgkin/genética , Enfermedad de Hodgkin/terapia , Humanos , Lactante , Linfohistiocitosis Hemofagocítica/complicaciones , Linfohistiocitosis Hemofagocítica/genética , Linfohistiocitosis Hemofagocítica/terapia , Masculino , Enfermedades de Inmunodeficiencia Primaria/complicaciones , Enfermedades de Inmunodeficiencia Primaria/genética , Enfermedades de Inmunodeficiencia Primaria/terapia , PronósticoRESUMEN
Background: Mucormycosis is a rare, worldwide fungal infection with high mortality, which mostly affects immunocompromised patients. Compared to large parts of Asia, Europe, and the USA, information on clinical expression and fungal species distribution in mucormycosis in Turkey is limited. Objectives and methods: The main aim of this study was to evaluate the demographic features of mucormycosis cases, identify the isolates at the species level by using matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF), compare culture results with histopathological examination and determine the antifungal susceptibility patterns of the pathogens. Results: Between 2016 and 2018, 10 mucormycosis cases (six female, four male; age range: 35-74 years) were evaluated retrospectively. The predominance of the cases were in late autumn and winter. Diabetes mellitus was the most common underlying condition. Seven patients had rhinoorbitocerebral, two had pulmonary and one had cutaneous mucormycosis. By mycological culture and direct microscopic examination nine strains were identified as Rhizopus spp. and one as Mucor spp. Seven of these strains were identified at the species level by MALDI-TOF. Histopathological examination of eight tissues were reported as compatible with mucormycosis. All isolates were resistant to azoles and echinocandins. Two isolates were resistant to Amphotericin B and one was resistant to posaconazole. Surgical debridement combined with antifungal therapy was the main treatment option. The mortality rate was 40% (n = 4) and the mean number of days between the onset of complaints and the initiation of treatment was 9.25. Conclusions: Early, rapid and accurate diagnosis of mucormycosis is of critical importance in the treatment of immunosuppressed patients.
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Mucormicosis/diagnóstico , Adulto , Anciano , Antifúngicos/uso terapéutico , Femenino , Humanos , Laboratorios de Hospital , Masculino , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Mucor/efectos de los fármacos , Mucor/genética , Mucor/crecimiento & desarrollo , Mucor/aislamiento & purificación , Mucormicosis/tratamiento farmacológico , Mucormicosis/microbiología , Mucormicosis/mortalidad , Estudios Retrospectivos , Rhizopus/efectos de los fármacos , Rhizopus/genética , Rhizopus/crecimiento & desarrollo , Rhizopus/aislamiento & purificación , Estaciones del Año , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción , TurquíaRESUMEN
Sarcoidosis is a systemic chronic granulomatous disease. It mostly involves the lungs and hilar lymph nodes and produces epithelioid granulomas. Granulomatous (sarcoid) reaction is known to be associated with malignancies; however, it is uncommonly seen with colon carcinomas. Furthermore, systemic sarcoidosis following cancer diagnosis is less commonly seen. To the best of our knowledge, cutaneous sarcoidosis related with an underlying colon carcinoma has not been reported previously in the literature. In this report, we present a very rare case with sarcoidosis development after resection of sigmoid adenocarcinoma, presenting with multiorgan involvement including the skin, eye, joints, and lymph nodes. 18F-fluorodeoxyglucose-positron emission tomography/computed tomography (18F-FDG-PET/CT) images showed the skin, lung, spleen, mediastinal, and hilar lymph node involvement. Histopathological examination of skin lesions demonstrated granulomatous dermatitis. This case demonstrates that sarcoidosis can cause intensely FDG-avid lesions on 18F-FDG-PET/CT scans, mimicking metastasis in colon cancer patients. Histopathological evaluation is essential for confirming the diagnosis. 18F-FDG-PET/CT scan provides important information for evaluation of disease extension, progression, and clinical follow-up.
RESUMEN
Abstract Background: A single dose injection or continuous infusion of local anesthetics into the joint space is considered to be a well-defined analgesia technique. The aim of this study was to investigate the chondrotoxic and apoptotic effects of single-dose intra-articular injection of levobupivacaine and bupivacaine on rabbit knee joint tissues. Materials and methods: The animals were allocated into two groups each containing 20 rabbits. 0.5% levobupivacaine (Group L) and 0.5% bupivacaine (Group B) were applied intra-articularly to the left posterior joints of rabbits. At the same time, normal saline was applied to the right posterior leg knee joints of rabbits in both groups and used as a control (Group S). At the end of the 7th and 28th days after the intraarticular injections, ten randomly chosen rabbits in each group were killed by applying intraperitoneal thiopental. Sections of cartilage tissue samples were stained for light microscopic examinations and the TUNEL method was used to investigate apoptotic cells. Results: As a result of immunofluorescence microscopic examination, the number of apoptotic cells in Group B at day 7 and day 28 were both significantly higher than Group L and S (p < 0.05). Also, the number of apoptotic cells in Group L at day 7 and day 28 were both significantly higher than Group S (p < 0.05). Conclusions: We found that bupivacaine is more chondrotoxic than other anesthetic agent and increases the number of apoptotic cells. These results indicated that bupivacaine caused high chondrotoxic damage and it led to more apoptotic activation than levobupivacaine.
Resumo Justificativa: Uma injeção em dose única ou infusão contínua de anestésicos locais no espaço articular é considerada uma técnica de analgesia bem definida. O objetivo deste estudo foi investigar os efeitos condrotóxicos e apoptóticos da injeção intra-articular com dose única de levobupivacaína e bupivacaína em tecidos articulares do joelho de coelho. Material e métodos: Os animais foram alocados em dois grupos, cada um contendo 20 coelhos. Levobupivacaína a 0,5% (Grupo L) e bupivacaína a 0,5% (Grupo B) foram aplicadas intra-articularmente nas articulações posteriores esquerdas de coelhos. Ao mesmo tempo, solução salina normal foi aplicada nas articulações do joelho da perna posterior direita de coelhos em ambos os grupos e usada como controle (Grupo S). Ao fim do 7° e 28° dias após as injeções intra-articulares, 10 coelhos escolhidos aleatoriamente em cada grupo foram mortos por aplicação de tiopental intraperitoneal. Seções de amostras de tecido cartilaginoso foram coradas para exames de microscopia de luz, e o método TUNEL foi usado para investigar células apoptóticas. Resultados: Como resultado do exame microscópico de imunofluorescência nos dias 7 e 28, o número de células apoptóticas no Grupo B foi significativamente maior que nos grupos L e S (p < 0,05). Além disso, o número de células apoptóticas nos dias 7 e 28 foi significativamente maior no Grupo L do que no Grupo S (p < 0,05). Conclusões: Demonstramos que a bupivacaína é mais condrotóxica do que o outro agente anestésico e aumenta o número de células apoptóticas. Esses resultados indicaram que a bupivacaína causou intensa lesão condrotóxica e levou a uma ativação apoptótica maior do que a levobupivacaína.
Asunto(s)
Animales , Femenino , Bupivacaína/toxicidad , Cartílago Articular/citología , Cartílago Articular/efectos de los fármacos , Apoptosis/efectos de los fármacos , Articulación de la Rodilla , Anestésicos Locales/toxicidad , Conejos , Bupivacaína/administración & dosificación , Distribución Aleatoria , Levobupivacaína/administración & dosificación , Levobupivacaína/toxicidad , Inyecciones IntraarticularesRESUMEN
INTRODUCTION: Mediastinal and hilar nodal staging is one of the key points for differentiating treatment modalities in patients with non-small-cell lung cancer (NSCLC). The aim of the present study was to determinate the diagnostic yields of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA), endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) and combined EBUS-TBNA and EUS-FNA modalities for nodal staging in potentially operable NSCLC patients. MATERIALS AND METHODS: Twenty consecutive patients were prospectively enrolled in the study between March 2014 and November 2015. All patients had a potentially operable NSCLC diagnosis before endosonographic procedures. RESULT: Thirty lymph nodes were sampled by EBUS-TBNA and 17 lymph nodes were sampled by EUS-FNA in all 20 patients. The sensitivity, specificity, positive predictive value, negative predictive value and diagnostic accuracy of F-18 fluorodeoxyglucose positron emission tomography with computed tomography (PET-CT), EBUS-TBNA, EUS-FNA and combined EBUS-TBNA and EUS-FNA were 100%, 33.3%, 64.7%, 100% and 70.0%; 81.8%, 100%, 100%, 81.8% and 90%; 81.8%, 100%, 100%, 75% and 88.2%; 90.9%, 100%, 100%, 90.0% and 95.0%, respectively. CONCLUSIONS: The combined EBUS-TBNA and EUS-FNA technique is a successful procedure for nodal staging in potentially operable NSCLC patients.
Asunto(s)
Broncoscopía/métodos , Carcinoma de Pulmón de Células no Pequeñas/secundario , Biopsia por Aspiración con Aguja Fina Guiada por Ultrasonido Endoscópico/métodos , Neoplasias Pulmonares/patología , Ganglios Linfáticos/patología , Estadificación de Neoplasias/métodos , Anciano , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico , Femenino , Humanos , Metástasis Linfática , Masculino , Mediastino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Estudios RetrospectivosRESUMEN
BACKGROUND: A single dose injection or continuous infusion of local anesthetics into the joint space is considered to be a well-defined analgesia technique. The aim of this study was to investigate the chondrotoxic and apoptotic effects of single-dose intra-articular injection of levobupivacaine and bupivacaine on rabbit knee joint tissues. MATERIALS AND METHODS: The animals were allocated into two groups each containing 20 rabbits. 0.5% levobupivacaine (Group L) and 0.5% bupivacaine (Group B) were applied intra-articularly to the left posterior joints of rabbits. At the same time, normal saline was applied to the right posterior leg knee joints of rabbits in both groups and used as a control (Group S). At the end of the 7th and 28th days after the intraarticular injections, ten randomly chosen rabbits in each group were killed by applying intraperitoneal thiopental. Sections of cartilage tissue samples were stained for light microscopic examinations and the TUNEL method was used to investigate apoptotic cells. RESULTS: As a result of immunofluorescence microscopic examination, the number of apoptotic cells in Group B at day 7 and day 28 were both significantly higher than Group L and S (p<0.05). Also, the number of apoptotic cells in Group L at day 7 and day 28 were both significantly higher than Group S (p<0.05). CONCLUSIONS: We found that bupivacaine is more chondrotoxic than other anesthetic agent and increases the number of apoptotic cells. These results indicated that bupivacaine caused high chondrotoxic damage and it led to more apoptotic activation than levobupivacaine.