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1.
Clin Case Rep ; 12(6): e8996, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38845802

RESUMEN

Tuberculous peritonitis (TB peritonitis) is one of the most challenging forms of extrapulmonary TB to diagnose. While tumor markers can be elevated in patients with TB peritonitis, FDG-PET/CT can aid in distinguishing TB peritonitis from malignancies, if an apron-like omentum pattern is seen. Laparoscopy is crucial for accurate and early diagnosis.

2.
Clin Neurol Neurosurg ; 242: 108331, 2024 07.
Artículo en Inglés | MEDLINE | ID: mdl-38795688

RESUMEN

OBJECTIVE: Effective thrombectomies in the posterior circulation remain controversial. Previous reports have demonstrated the superiority of contact aspiration in anterior circulation. Aspiration catheters and stent retrievers are often used alone on a global scale, while combined techniques are commonly used in Japan. This study evaluated the effect of first-line contact aspiration with other strategies for the treatment of basilar artery occlusion. METHODS: The primary outcome was the frequency of the first-pass effect, and the secondary outcome was the time from puncture to the first-pass effect. A multicenter observational registry including 16 Japanese stroke centers was used. Between December 2013 and February 2021, enrolled patients underwent endovascular thrombectomy for basilar artery occlusion. The efficacy of contact aspiration compared to other methods (including stent retrievers and combined techniques) was evaluated. RESULTS: Eighty-four patients were included, all of whom had achieved effective recanalization. Twenty-six patients were treated with contact aspiration, 13 with combined technique, and 45 with stent retrievers. The two groups: contact aspiration and non-contact aspiration, had different backgrounds. Both had similar frequencies of effective recanalization and first-pass effects. The contact aspiration group experienced better functional outcomes without statistical significance, while this strategy was significantly associated with a shorter puncture-to-recanalization time (38 vs. 55 minutes, P=0.036). In particular, in the 55 patients with the first-pass effect, multivariate Cox proportional hazard analysis showed that contact aspiration was significantly associated with a shorter time from puncture to first-pass effect, independent of age and etiology of large-artery atherosclerosis (hazard ratio 2.02, 95% confidence intervals 1.10-3.69, P=0.023). CONCLUSION: This study suggested that contact aspiration for basilar artery occlusion may shorten the puncture-to-first-pass effect, compared to stent retrievers and combined techniques.


Asunto(s)
Procedimientos Endovasculares , Trombectomía , Humanos , Masculino , Femenino , Anciano , Persona de Mediana Edad , Trombectomía/métodos , Procedimientos Endovasculares/métodos , Insuficiencia Vertebrobasilar/cirugía , Resultado del Tratamiento , Punciones/métodos , Anciano de 80 o más Años , Sistema de Registros , Tiempo de Tratamiento , Arteria Basilar/cirugía , Stents , Succión/métodos
3.
Plant Cell Physiol ; 2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38590036

RESUMEN

Endoplasmic reticulum (ER)-derived organelles, ER bodies, participate in the defense against herbivores in Brassicaceae plants. ER bodies accumulate ß-glucosidases, which hydrolyse specialized thioglucosides known as glucosinolates to generate bioactive substances. In Arabidopsis thaliana, the leaf ER (LER) bodies are formed in large pavement cells, which are found in the petioles, margins, and blades of rosette leaves. However, the regulatory mechanisms involved in establishing large pavement cells are unknown. Here, we show that the ARABIDOPSIS THALIANA MERISTEM L1 LAYER (ATML1) transcription factor regulates the formation of LER bodies in large pavement cells of rosette leaves. Overexpression of ATML1 enhanced the expression of LER body-related genes and the number of LER body-containing large pavement cells, whereas its knockout resulted in opposite effects. ATML1 enhances endoreduplication and cell size through LOSS OF GIANT CELLS FROM ORGANS (LGO). Although the overexpression and knockout of LGO affected the appearance of large pavement cells in Arabidopsis, the effect on LER body-related gene expression and LER body formation was weak. LER body-containing large pavement cells were also found in Eutrema salsugineum, another Brassicaceae species. Our results demonstrate that ATML1 establishes large pavement cells to induce LER body formation in Brassicaceae plants, and thereby possibly contributes to the defense against herbivores.

4.
Cureus ; 16(1): e51915, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38333512

RESUMEN

Japanese spotted fever (JSF) is a tick-transmitted infection caused by Rickettsia japonica (R. japonica), which is indigenous to Japan. Patients with JSF typically present with fever and spotted erythema on the palms and/or soles, and most of them have site(s) of tick bites. The prognosis is good, but some cases have a fatal course. Kawasaki disease (KD) is a systemic vasculitis with an unknown cause that is characterized by symptoms such as fever, conjunctival injection, oral findings, amorphous rash, rigid edema, and nonsuppurative cervical lymphadenopathy. Although the symptoms of JSF are partially similar to those of KD, case reports of JSF overlapping KD have never been internationally published. Herein, we report a boy with JSF and KD symptoms. A five-year-old boy presented with fever and rash after he had been on a mountain inhabited by R. japonica. On the fifth day, erythema was spotted mainly on his bilateral palms, bilateral cervical lymphadenopathy, rigid edema of his lower feet, and mild conjunctival injection appeared. Intravenous immunoglobulin (IVIG) therapy was performed because these symptoms satisfied five out of the six diagnostic criteria for KD. However, on the sixth day, the fever persisted, and then we readministered IVIG in addition to tosufloxacin and azithromycin since we found a tick-bite eschar, which suggested a complication of JSF. His symptoms resolved soon after this treatment. Coronary artery lesions were never observed. This case indicates that the R. japonica infection overlaps clinically with KD. Tosufloxacin and azithromycin should be considered to avoid the use of minocycline in younger patients with JSF.

5.
New Phytol ; 241(1): 329-342, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37771245

RESUMEN

Endoplasmic reticulum (ER) bodies are ER-derived structures that contain a large amount of PYK10 myrosinase, which hydrolyzes tryptophan (Trp)-derived indole glucosinolates (IGs). Given the well-described role of IGs in root-microbe interactions, we hypothesized that ER bodies in roots are important for interaction with soil-borne microbes at the root-soil interface. We used mutants impaired in ER bodies (nai1), ER body-resident myrosinases (pyk10bglu21), IG biosynthesis (myb34/51/122), and Trp specialized metabolism (cyp79b2b3) to profile their root microbiota community in natural soil, evaluate the impact of axenically collected root exudates on soil or synthetic microbial communities, and test their response to fungal endophytes in a mono-association setup. Tested mutants exhibited altered bacterial and fungal communities in rhizoplane and endosphere, respectively. Natural soils and bacterial synthetic communities treated with mutant root exudates exhibited distinctive microbial profiles from those treated with wild-type (WT) exudates. Most tested endophytes severely restricted the growth of cyp79b2b3, a part of which also impaired the growth of pyk10bglu21. Our results suggest that root ER bodies and their resident myrosinases modulate the profile of root-secreted metabolites and thereby influence root-microbiota interactions.


Asunto(s)
Microbiota , Triptófano , Glicósido Hidrolasas , Bacterias , Suelo/química , Microbiología del Suelo , Raíces de Plantas/microbiología , Rizosfera
6.
Respir Med Case Rep ; 45: 101892, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37577121

RESUMEN

Parvimonas micra is a gram-positive anaerobic coccus (GPAC) that colonizes the oral cavity and gastrointestinal tract. Recent advances in bacterial identification have confirmed the clinical importance of Parvimonas micra. Here, we report a case of empyema with bacteremia caused by Parvimonas micra. We successfully treated the patient with the appropriate antibiotics and drainage. Parvimonas micra can cause respiratory infections, including empyema, which can progress to bacteremia if treatment is delayed. In Parvimonas micra infections, not only the oral cavity but also the entire body must be investigated to clarify the entry mechanism.

7.
Sci Rep ; 13(1): 12217, 2023 07 27.
Artículo en Inglés | MEDLINE | ID: mdl-37500719

RESUMEN

The demand for recombinant proteins is rising dramatically, and effective production systems are currently being developed. The production of recombinant proteins in plants is a promising approach due to its low cost and low risk of contamination of the proteins with endotoxins or infectious agents from the culture serum. Plant seeds primarily accumulate seed storage proteins (SSPs), which are transcribed and translated from a few genes; therefore, the mechanism underlying SSP accumulation has been studied to help devise ways to increase recombinant protein production. We found that the 3'UTR of SSP genes are essential for SSP accumulation and can be used in the production of recombinant proteins in Arabidopsis. Fusion of the 3'UTR of SSP genes to the 3' ends of DNA sequences encoding recombinant proteins enables massive accumulation of recombinant proteins with enzymatic activity in Arabidopsis seeds. This method is also applicable to the production of human Interferon Lambda-3 (IFN-lambda 3), a candidate biopharmaceutical compound against hepatitis C infection. Considering the low cost and ease of protein production in Arabidopsis, as well as the rapid growth of this plant, our method is useful for large-scale preparation of recombinant proteins for both academic research and biopharmaceutical production.


Asunto(s)
Arabidopsis , Proteínas de Almacenamiento de Semillas , Humanos , Proteínas de Almacenamiento de Semillas/metabolismo , Regiones no Traducidas 3' , Arabidopsis/genética , Arabidopsis/metabolismo , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Semillas/genética , Semillas/metabolismo , Regulación de la Expresión Génica de las Plantas , Plantas Modificadas Genéticamente/genética , Plantas Modificadas Genéticamente/metabolismo
8.
Clin Neurol Neurosurg ; 231: 107824, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37320887

RESUMEN

PURPOSE: We aimed to investigate the impact of baseline infarct area and collateral status (CS), which are imaging predictors of clinical outcome following stroke, after endovascular treatment (EVT) in MRI-selected patients with acute basilar artery occlusion (BAO). METHODS: Patients with acute BAO who underwent EVT within 24 h after stroke from December 2013 to February 2021 were included in this retrospective, multicenter, observational study. The baseline infarct area was evaluated by the posterior circulation of Acute Stroke Prognosis Early Computed Tomography Score (pc-ASPECTS) using diffuse-weighted imaging (DWI), and CS was assessed by measuring the computed tomography angiography of the basilar artery (BATMAN) score and the posterior circulation collateral score (PC-CS) using magnetic resonance angiography (MRA). A Good outcome was defined as a modified Rankin scale score ≤ 3 at 3 months. For each imaging predictor, a multivariate logistic regression analysis was performed to evaluate its impact on good outcomes. RESULTS: A total of 86 patients were analyzed, and 37 (43.0%) had a good outcome. The latter showed significantly higher pc-ASPECTS than those without good outcomes. In multivariate analyses, a pc-ASPECTS ≥ 7 was significantly associated with good outcomes (OR, 2.98 [95% CI, 1.10-8.13], P = 0.032), while PC-CS ≥ 4 (OR, 2.49 [95% CI, 0.92-6.74], P = 0.073) and BATMAN score ≥ 5 (OR, 1.51 [95% CI, 0.58-3.98], P = 0.401) were not. CONCLUSIONS: In MRI-selected patients with acute BAO, pc-ASPECTS on DWI was an independent predictor of clinical outcomes after EVT, while the MRA-based CS assessments were not.


Asunto(s)
Arteriopatías Oclusivas , Procedimientos Endovasculares , Accidente Cerebrovascular , Insuficiencia Vertebrobasilar , Humanos , Arteria Basilar/diagnóstico por imagen , Arteria Basilar/cirugía , Insuficiencia Vertebrobasilar/diagnóstico por imagen , Insuficiencia Vertebrobasilar/cirugía , Resultado del Tratamiento , Estudios Retrospectivos , Accidente Cerebrovascular/terapia , Procedimientos Endovasculares/métodos , Arteriopatías Oclusivas/diagnóstico por imagen , Arteriopatías Oclusivas/cirugía , Arteriopatías Oclusivas/etiología , Trombectomía/métodos , Infarto , Imagen por Resonancia Magnética
9.
Sensors (Basel) ; 23(7)2023 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-37050532

RESUMEN

This study evaluated the effect of pitch on 256-slice helical computed tomography (CT) scans. Cylindrical water phantoms (CWP) were measured using axial and helical scans with various pitch values. The surface dose distributions of CWP were measured, and reconstructed images were obtained using filtered back-projection (FBP) and iterative model reconstruction (IMR). The image noise in each reconstructed image was decomposed into a baseline component and another component that varied along the z-axis. The baseline component of the image noise was highest at the center of the reconstructed image and decreased toward the edges. The normalized 2D power spectra for each pitch were almost identically distributed. Furthermore, the ratios of the 2D power spectra for IMR and FBP at different pitch values were obtained. The magnitudes of the components varying along the z-axis were smallest at the center of the reconstructed image and increased toward the edge. The ratios of the 3D power spectra on the fx axis for IMR and FBP at different pitch values were obtained. The results showed that the effect of the pitch was related to the component that varied along the z-axis. Furthermore, the pitch had a smaller effect on IMR than on FBP.


Asunto(s)
Interpretación de Imagen Radiográfica Asistida por Computador , Tomografía Computarizada por Rayos X , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Estudios Prospectivos , Tomografía Computarizada por Rayos X/métodos , Fantasmas de Imagen , Dosis de Radiación , Algoritmos , Procesamiento de Imagen Asistido por Computador/métodos
10.
Autophagy ; 19(5): 1611-1613, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36760098

RESUMEN

Light is essential for plant growth, but excessive light energy produces reactive oxygen species (ROS), which can seriously damage cells. Mutants defective in ATG (autophagy related) genes show light intensity-dependent leaf damage and ROS accumulation. We found that autophagy is one of the crucial systems in protecting plants from ROS-induced damage by removing oxidative peroxisomes. Damaged peroxisomes are targeted by the PtdIns3P marker and specifically engulfed by phagophores labeled by ATG18a-GFP. Under high-intensity light, huge peroxisome aggregates are induced and captured by vacuolar membranes. Research provides a deeper understanding of plant stress response to light irradiation.


Asunto(s)
Autofagia , Macroautofagia , Autofagia/fisiología , Especies Reactivas de Oxígeno/metabolismo , Estrés Oxidativo , Plantas , Peroxisomas/metabolismo
11.
World Neurosurg ; 171: e506-e515, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36528323

RESUMEN

BACKGROUND AND PURPOSE: To measure the magnitude of the effect of the infarct location measured using the posterior circulation Alberta Stroke Program Early Computed Tomographic Score (pc-ASPECTS) on the functional outcome at 90 days in patients with basilar artery (BA) occlusion undergoing endovascular therapy (EVT). METHODS: Of the acute ischemic stroke patients undergoing EVT for acute posterior circulation large vessel occlusion enrolled in the multicenter observational registry from December 2013 to February 2021, patients with BA occlusion were included. A favorable outcome was defined as achieving a modified Rankin Scale score of 0-3 at 90 days. The effect of pc-ASPECTS including the distribution on favorable outcomes was evaluated. RESULTS: One hundred patients were analyzed. Fifty-one patients (51%) achieved favorable outcome. Patients achieving a favorable outcome were younger, had a lower National Institutes of Health Stroke Scale score before EVT, and had a higher pc-ASPECTS before EVT than those not achieving a favorable outcome. Multivariable logistic analysis showed a significant association between higher pc-ASPECTS and a favorable outcome (odds ratio [OR] 1.24; 95% confidence interval [CI] 1.02-1.52; P = 0.028). Considering the infarct location, bilateral cerebellar infarction was significantly associated with a lower frequency of favorable outcomes than those without cerebellar infarction (OR 0.16; 95% CI 0.04-0.51; P = 0.002). CONCLUSIONS: A higher pc-ASPECTS before EVT could be a predictor of a favorable outcome after EVT for BA occlusion. In particular, the presence of bilateral cerebellar infarction before EVT was significantly associated with a lower likelihood of a favorable outcome.


Asunto(s)
Arteriopatías Oclusivas , Isquemia Encefálica , Procedimientos Endovasculares , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Humanos , Arteria Basilar , Resultado del Tratamiento , Accidente Cerebrovascular Isquémico/etiología , Procedimientos Endovasculares/efectos adversos , Isquemia Encefálica/etiología , Accidente Cerebrovascular/etiología , Arteriopatías Oclusivas/etiología , Infarto/etiología
12.
Nat Commun ; 13(1): 7493, 2022 12 05.
Artículo en Inglés | MEDLINE | ID: mdl-36470866

RESUMEN

Although light is essential for photosynthesis, it has the potential to elevate intracellular levels of reactive oxygen species (ROS). Since high ROS levels are cytotoxic, plants must alleviate such damage. However, the cellular mechanism underlying ROS-induced leaf damage alleviation in peroxisomes was not fully explored. Here, we show that autophagy plays a pivotal role in the selective removal of ROS-generating peroxisomes, which protects plants from oxidative damage during photosynthesis. We present evidence that autophagy-deficient mutants show light intensity-dependent leaf damage and excess aggregation of ROS-accumulating peroxisomes. The peroxisome aggregates are specifically engulfed by pre-autophagosomal structures and vacuolar membranes in both leaf cells and isolated vacuoles, but they are not degraded in mutants. ATG18a-GFP and GFP-2×FYVE, which bind to phosphatidylinositol 3-phosphate, preferentially target the peroxisomal membranes and pre-autophagosomal structures near peroxisomes in ROS-accumulating cells under high-intensity light. Our findings provide deeper insights into the plant stress response caused by light irradiation.


Asunto(s)
Macroautofagia , Peroxisomas , Especies Reactivas de Oxígeno/metabolismo , Peroxisomas/metabolismo , Autofagia/fisiología , Hojas de la Planta/metabolismo
13.
Mol Genet Metab Rep ; 33: 100940, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36406819

RESUMEN

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disease caused by a defect in electron transfer flavoprotein alpha (ETFA), ETF beta (ETFB), or ETF dehydrogenase (ETFDH), and riboflavin metabolism disorders have recently been reported to present as mimicking MADD. MADD is roughly classified into neonatal (type 1 or 2) and later-onset (type 3) forms. To identify clinicogenetic characteristics in Japan, we investigated 37 Japanese patients with MADD diagnosed from 1997 to 2020. The causes of MADD were ETFDH deficiency in 26 patients, ETFA deficiency in four, ETFB deficiency in six, and riboflavin metabolism disorder in one. All 15 patients with the neonatal-onset type died by 2 years of age, while five of 22 patients with the later-onset form died by 3 years of age. Furthermore, 8 of 15 patients with the later-onset form of ETFDH deficiency treated with riboflavin were riboflavin non-responders. p.Y507D in ETFDH was identified as the most common variant (9 of 48 alleles, 18.8%). Of two patients with a homozygous p.Y507D variant, one experienced disease onset and died in the neonatal period, while the other experienced disease onset at two months of age and died at two years old, suggesting that the p.Y507D variant results in fatal outcomes. Our study concluded that more than half of Japanese patients with MADD died by three years old, and more than half of patients with the later-onset form had poor responsiveness to riboflavin, partly due to the unique Japanese p.Y507D variant in ETFDH.

14.
Kyobu Geka ; 75(9): 674-677, 2022 Sep.
Artículo en Japonés | MEDLINE | ID: mdl-36156515

RESUMEN

Cystic echinococcosis is an uncommon zoonosis in Japan. Typical location of the cyst is the liver and the lung. Mediastinal hydatidosis is found in less than 0.1% of all hydatid disease patients. We report a rare case of 68 years old male with mediastinal and liver hydatid cysts. Serological test confirmed the diagnosis of hydatidosis. The patient underwent complete resection of mediastinal and liver cysts successfully. Postoperative follow-up for two years has not shown any signs of recurrence. Simultaneous resection of the cysts in different sites including mediastinum is rare and has not been reported in Japan. Hydatid disease is an important differential diagnosis for patient who has cryptogenic liver cyst and history of contact to wildlife or unsterile water.


Asunto(s)
Equinococosis , Quiste Mediastínico , Anciano , Quistes , Equinococosis/diagnóstico por imagen , Equinococosis/cirugía , Humanos , Hígado , Hepatopatías , Masculino , Quiste Mediastínico/cirugía , Mediastino/diagnóstico por imagen , Mediastino/cirugía , Agua
15.
Sci Rep ; 12(1): 16060, 2022 09 26.
Artículo en Inglés | MEDLINE | ID: mdl-36163414

RESUMEN

Affinos (Kuraray, Japan) is a ß-tricalcium phosphate bone substitute with a unidirectional porous structure. This study aimed to investigate its efficacy on the healing process after filling for bone defects. Fifty-six patients who met the inclusion criteria were divided into cohort 1 (n = 30), including bones other than phalanges and metacarpal/tarsal bones, and cohort 2 (n = 26), including phalanges and metacarpal/tarsal bones. Semi-quantified scores for material resorption and trabeculation through the defect were evaluated with radiographs after surgery. In some patients, levels of bone metabolic markers were assessed. The values of resorption and trabeculation increased steadily with time, and trabeculation progressed compared with resorption in both cohorts. In cohort 1, multiple regression analyses showed that the diaphyseal lesion, smaller defect volume, and increased resorption values at 3 months were associated with increased values of resorption 12 months after surgery (R2 = 0.66, p < 0.001). The trabeculation values at 2 months were positively related to the trabeculation values 12 months after surgery (R2 = 0.35, p = 0.002). In cohort 2, the increased resorption values at 2 months and smaller defect volume significantly correlated with the increased resorption values 12 months after surgery (R2 = 0.58, p < 0.001). The ratio from the baseline of pyridinoline cross-linked carboxyterminal telopeptide of type I collagen at 3 months was negatively associated with the trabeculation values 12 months after surgery (R = - 0.791, p = 0.004). Evaluation of radiographic images and bone metabolic markers in the early postoperative period may predict the healing status at 12 months postoperatively in the defects followed by Affinos filling.


Asunto(s)
Enfermedades Óseas , Sustitutos de Huesos , Enfermedades de los Cartílagos , Enfermedades Óseas/cirugía , Fosfatos de Calcio , Colágeno Tipo I , Humanos , Porosidad , Estudios Prospectivos
17.
J Stroke Cerebrovasc Dis ; 31(8): 106593, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35696736

RESUMEN

BACKGROUND: Postoperative cerebral embolic stroke is a serious complication of pulmonary lobectomy, occurring in 1.1% of patients undergoing lobectomy through video-assisted thoracoscopic surgery (VATS). The mechanism of this complication is thought to be embolic stroke caused by thrombus formed due to stagnation in the pulmonary vein stump after VATS lobectomy. There have been few reports demonstrating the utility of endovascular treatment (EVT) for cerebral embolic stroke after VATS lobectomy. CASE DESCRIPTION: In our case series, cerebral embolic stroke occurred after VATS pulmonary lobectomy for lung cancer, including the left upper lobe in three cases and the right lobe in one. The median duration of ischemic stroke after VATS was 4.5 days (interquartile range, 2-9 days). The median time from stroke onset to puncture was 130 min. Successful recanalization was achieved in all cases, and two patients achieved favorable clinical outcomes (modified Rankin scale, 0-2). CONCLUSION: We report a case series of four patients who underwent EVT for acute embolic stroke after VATS lobectomy for lung cancer. EVT is considered a reasonable and feasible therapeutic option for this condition.


Asunto(s)
Accidente Cerebrovascular Embólico , Accidente Cerebrovascular Isquémico , Neoplasias Pulmonares , Accidente Cerebrovascular , Humanos , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/cirugía , Neumonectomía/efectos adversos , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/terapia , Cirugía Torácica Asistida por Video/efectos adversos
18.
Mol Genet Metab ; 136(1): 74-79, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35400565

RESUMEN

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency has been a target of expanded newborn screening (ENBS) using tandem mass spectrometry in Japan. Since the implementation of ENBS, a number of novel ACADVL variants responsible for VLCAD deficiency have been identified. In this study, genotypic differences in Japanese patients with VLCAD deficiency were investigated before and after ENBS. The ACADVL variants in 61 subjects identified through ENBS (ENBS group) and in 40 patients who subsequently developed clinical symptoms without undergoing ENBS (pre-ENBS group) were compared. Subjects in the ENBS group underwent genetic testing and/or VLCAD enzyme activity measurements. Patients in the pre-ENBS group were stratified into three clinical phenotypes and underwent genetic testing. This study revealed that the variants p.K264E, p.K382Q and c.996dupT were found in both groups, but their frequencies were lower in the ENBS group (5.2%, 3.1% and 4.2%, respectively) than in the pre-ENBS group (16.5%, 12.7% and 10.1%, respectively). In addition, p.C607S, p.T409M, p.M478I, p.G289R, p.C237R, p.T260M, and p.R229* were exclusively identified in the ENBS group. Among these variants, p.C607S exhibited the highest frequency (18.8%). The patients who were heterozygous for p.C607S demonstrated 7-42% of control enzyme activity. p.C607S is suspected to be unique to Japanese individuals. According to a comparison of enzyme activity, patients with the p.C607S variant may exhibit higher enzyme activity than those with the p.A416T, p.A180T, p.R450H, and p.K264E variants, which are responsible for the myopathic form of the disease. The VLCAD deficiency genotypes have changed since the initiation of ENBS in Japan.


Asunto(s)
Síndromes Congénitos de Insuficiencia de la Médula Ósea , Errores Innatos del Metabolismo Lipídico , Enfermedades Mitocondriales , Enfermedades Musculares , Acil-CoA Deshidrogenasa/genética , Acil-CoA Deshidrogenasa de Cadena Larga/genética , Síndromes Congénitos de Insuficiencia de la Médula Ósea/epidemiología , Humanos , Recién Nacido , Japón/epidemiología , Errores Innatos del Metabolismo Lipídico/epidemiología , Enfermedades Mitocondriales/epidemiología , Enfermedades Musculares/epidemiología , Tamizaje Neonatal/métodos
19.
Jpn J Clin Oncol ; 52(2): 157-162, 2022 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-34875695

RESUMEN

BACKGROUND: Soft tissue sarcomas are a diverse group of rare malignant tumours, mostly occurring in the lower extremities. Amputations are necessary for achieving local control when the soft tissue sarcomas are too large and/or have neurovascular involvement. Patients who require amputation have a poorer prognosis than those who undergo limb-salvage surgery. PATIENTS AND METHODS: We investigated the tumour characteristics and the clinical outcomes in 55 patients with primary soft tissue sarcomas, who underwent amputation. We excluded patients with amputation performed distal to the wrist or ankle joints and those with recurrent soft tissue sarcomas. RESULTS: The mean tumour size was 11.1 cm. Hip disarticulation was performed in 6 patients, 20 underwent above the knee amputation, 8 underwent knee disarticulation and 12 underwent below the knee amputation. Shoulder disarticulation was performed in three patients, five underwent above the elbow amputation, and one underwent below the elbow amputation. The 5-year disease-specific survival rate was 52.8%. The 5-year recurrence-free survival rate and 5-year metastasis-free survival rates were 90.1% and 38.5%, respectively. Larger tumour size, age and the distant metastases at first presentation were predictors of poor prognosis for survival in multivariate analysis. Twenty-eight patients could walk using artificial limbs. The level of amputation (above versus below the knee) showed a significant difference in achieving independent gait. CONCLUSION: Amputation is a useful treatment option for achieving local control in patients with large soft tissue sarcomas. Patients had an opportunity of walking, especially for those who underwent below the knee amputation.


Asunto(s)
Sarcoma , Neoplasias de los Tejidos Blandos , Amputación Quirúrgica , Humanos , Extremidad Inferior , Recurrencia Local de Neoplasia/cirugía , Estudios Retrospectivos , Sarcoma/cirugía , Neoplasias de los Tejidos Blandos/cirugía , Resultado del Tratamiento
20.
Cancer Manag Res ; 13: 8473-8480, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34785953

RESUMEN

PURPOSE: Here, we investigated the oncological outcomes of lung metastasectomy and/or radiofrequency ablation (RFA) of 92 patients with soft tissue sarcoma (STS) at nine institutions. METHODS: The study cohort included 65 men and 27 women with a mean age of 59 years at the time of metastasis. The mean follow-up duration was 51 months. All patients underwent metastasectomy and/or RFA for lung metastasis. RESULTS: The mean maximum size of the initial lung metastasis was 14.6 mm. At the initial evaluation, 41 patients had a single metastasis, whereas 51 patients had multiple metastases. The mean number of metastasectomies and/or RFA was 2 per patient. A total of 70 patients underwent lung metastasectomy, whereas the other 13 underwent lung RFA. The remaining nine patients underwent both RFA and metastasectomy. The 5-year post-metastatic survival rate was 52%. The patients who underwent complete treatment for the initial metastasis had better post-metastatic survival rates than those who underwent incomplete treatment. A univariate analysis of all possible prognostic factors for complete treatment confirmed the predictive value of disease-free interval, metastasis at initial presentation, distribution, tumor size, and number of lung metastases. Of the 92 patients, 74 underwent complete treatment for initial metastasis; in these patients, univariate and multivariate analyses showed that a smaller tumor size and single-lung metastasis were prognostic factors for superior post-metastatic survival. The patients with a smaller (<11.5 mm) single metastasis had better post-metastasis survival. The 5-year post-metastatic survival rates were 89.9% for patients with a smaller (<11.5 mm) single metastasis versus 22.7% for patients with larger (>11.5 mm) and multiple metastases. DISCUSSION: We propose that complete treatment for lung metastasis in patients with STS may improve post-metastatic survival rates. Furthermore, tumor number and size are important variables for clinical decision-making.

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