Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 501
Filtrar
1.
J Craniofac Surg ; 2024 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-39345158

RESUMEN

BACKGROUND: Reconstruction of significant soft tissue defects in the head and neck region after resection of extensive plexiform neurofibromas, as well as preservation and restoration of cosmetic and functional aspects, presents a considerable challenge. AIMS: The purpose is to evaluate the feasibility of eTMF in repairing substantial defects after the complete resection of NF1 PN. PATIENTS AND METHODS: Patients diagnosed with substantial neurofibromatosis (NP) type 1 (NF1), according to the revised criteria, underwent complete resection and remodeling of the facial aesthetic unit. An extended vertical lower trapezius island myocutaneous flap (eTIMF) was used for the defect reconstruction. Perioperative complications were evaluated using the Clavien-Dindo classification. ECOG PS was assessed. Postoperative follow-up at 6 months and completion of UW-QOL. The questionnaire included swallowing, chewing, speech, and quality of life scores. Two patients had pathogenic missense variants: c.5609G>A (p.Arg1870Gln) in exon 38 of NF1 in the first case, and c.4600C>T (p.Arg1534*) in exon 35 in the second case. RESULTS: Two eTMFs were harvested successfully. Five facial esthetic units were remodeled, and 4 units were remodeled. Two extensive tumors were nearly entirely removed. No severe complications were noted. The ECOG PS improved from grade 3 in the first week postsurgery to grade 0 by the eighth week. The UW-QOL results indicated that swallowing, chewing, and speaking functions returned to their preoperative levels, with a 40% improvement in quality of life, reaching 60% and 80%, respectively. CONCLUSIONS: eTMF to repair substantial defects following total resection of NF1 PN and facial esthetic unit remodeling enhances appearance, function, and psychosocial outcomes. This technique is safe, efficient, resource-conserving, and simple to implement.

2.
J Craniofac Surg ; 2024 Sep 13.
Artículo en Inglés | MEDLINE | ID: mdl-39265188

RESUMEN

BACKGROUND: There is a lack of classified definitions and corresponding treatment principles for complications related to titanium miniplate (TMP) and biodegradable miniplate (BMP). AIMS: This study proposes a classification system for complications related to TMP and BMP osteosynthesis and evaluates the effectiveness of the classification system in the treatment of the complications. METHODS: One hundred forty-two patients with advanced-stage oral cavity and oropharynx squamous cell carcinoma (SCC) underwent oncological surgery via lip-split transmandibular (LTM) approach including midline, paramedian, stair-step, and triangle. 54.9% of patients were treated with TMP, and 45.1% were treated with BMP for osteosynthesis. The classification of complications is divided into grades 0, 1, 2, and 3. Grade 0 is defined as having no complications. The evaluation criteria for treating complications were significant improvement, partial improvement, and no improvement. RESULTS: All patients underwent en bloc resection of the tumor with histologically negative margins via the LTM approach. The overall success rate of the flap is 98.6%. 25.3%, 48.6%, 14.8%, and 11.3% of patients were treated with midline, paramedian, stair-step, and triangular osteotomy approaches, respectively. A significant increase in the number of paramedian osteotomies was observed compared with other types of osteotomy (P < 0.05). Grades 0, 1, 2, and 3 developed in 54.2%, 12.0%, 14.8%, and 19.0% of patients, respectively. No significant differences in the grade of complications were observed between the TMP group and the BMP group. Sixty-five patients with complications, grades 1, 2, and 3 occurred in 26.2%, 32.3%, and 41.5% of patients. The midline, paramedian, stair-step, and triangle osteotomy approaches were used in 26.1%, 47.7%, and 10.8%, respectively. The incidence of complications in the paramedian osteotomy was significantly higher than that in the other osteotomy (P < 0.05). 83.1% of patients showed significant improvement, 10.8% showed partial improvement, and 6.1% showed no improvement. No significant differences in the treatment outcomes were observed between the TMP group and the BMP group. CONCLUSIONS: The incidence of complications in paramedian osteotomy is also significantly higher than 3 types of osteotomy, and 83.1% of patients showed significant improvement in complications. The complication classification system related to TMP and BMP osteosynthesis are easy to implement and feasible in clinical practice.

3.
World Neurosurg ; 2024 Sep 07.
Artículo en Inglés | MEDLINE | ID: mdl-39182833

RESUMEN

OBJECTIVE: To evaluate the effects of a multimodal management technique combining surgical muscle wrapping, clipping, and flow-diverter stent (FDS) placement in patients with ruptured blood blister-like aneurysms (BBAs) in the internal carotid artery (ICA). METHODS: In a retrospective case series review from 2020 to 2023, 3 patients with ruptured ICA BBAs underwent multimodal management, an approach combining muscle wrapping, surgical clipping, and FDS embolization. The aneurysm sac was initially packed and wrapped with multiple tailored temporalis muscle grafts and then secured using fenestration clips, with good preservation of the ICA branches. The FDS was placed 2-3 weeks after the clipping. RESULTS: All 3 patients had right ICA BBAs (mean age, 52 years). The modified Hunt and Hess grades ranged from 2 to 3, and the Fisher grades ranged from 3 to 4. The mean angiography follow-up time was 27.7 months (15, 31, and 37 months). There were no instances of symptomatic vasospasm or visible ischemic stroke during follow-up computed tomography. No patient required cerebrospinal fluid shunt implantation, and all achieved favorable neurological outcomes (modified Rankin scale 0-1). Follow-up digital subtraction angiography revealed no evidence of aneurysm recurrence or significant ICA stenosis. CONCLUSIONS: We discuss a promising multimodal management approach for ruptured ICA BBAs combining muscle wrapping, surgical clipping, and FDS embolization. This technique was safe and effective in preventing re-rupture, achieving positive short-term clinical outcomes. Further research and more extensive studies are required to validate the long-term efficacy of this approach.

4.
Pediatr Neurol ; 159: 48-55, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39121557

RESUMEN

BACKGROUND: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises. In addition, we sought to correlate the utility of biochemical markers and electroencephalography (EEG) in detecting subclinical seizures during HA. METHODS: Medical records of individuals with UCDs enrolled in Urea Cycle Disorders Consortium Longitudinal Study (UCDC-LS) (NCT00237315) at Children's National Hospital between 2006 and 2022 were reviewed for evidence of clinical and subclinical seizuress during HA crises, and initial biochemical levels concurrently. RESULTS: Eighty-five individuals with UCD were included in the analyses. Fifty-six of the 85 patients (66%) experienced HA crises, with a total of 163 HA events. Seizures are observed in 13% of HA events. Among all HA events with concomitant EEG, subclinical seizures were identified in 27% of crises of encephalopathy without clinical seizures and 53% of crises with clinical seizures. The odds of seizures increases 2.65 (95% confidence interval [CI], 1.51 to 4.66) times for every 100 µmol/L increase in ammonia and 1.14 (95% CI, 1.04 to 1.25) times for every 100 µmol/L increase in glutamine. CONCLUSIONS: This study highlights the utility of EEG monitoring during crises for patients presenting with clinical seizures or encephalopathy with HA. During HA events, measurement of initial ammonia and glutamine can help determine risk for seizures and guide EEG monitoring decisions.


Asunto(s)
Amoníaco , Electroencefalografía , Hiperamonemia , Convulsiones , Trastornos Innatos del Ciclo de la Urea , Humanos , Convulsiones/diagnóstico , Hiperamonemia/diagnóstico , Hiperamonemia/sangre , Femenino , Masculino , Estudios Retrospectivos , Trastornos Innatos del Ciclo de la Urea/complicaciones , Trastornos Innatos del Ciclo de la Urea/diagnóstico , Amoníaco/sangre , Niño , Preescolar , Lactante , Adolescente , Estudios Longitudinales
5.
Int J Biol Macromol ; 277(Pt 2): 134346, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39094883

RESUMEN

To date, although the high-carbohydrate (HC) feed has been extensively adopted in the aquaculture industry, its effects on the intestinal function and development of aquatic animals still remain unclear. In addition, the corresponding nutritional intervention is still barely reported. This study aimed to evaluate the influence of xylooligosaccharides (XOS) on the intestinal health of Megalobrama amblycephala subjected to a HC feeding. Fish (average weight: 44.55 ± 0.15 g) were randomly offered 3 diets, including a control one (29 % carbohydrate), a HC one (41 % carbohydrate), and a XOS supplemented one (HC + 1.0 % XOS, HCX) respectively for 12 weeks. The HC feeding caused morphological abnormalities of intestine, an increased intestinal permeability, and the intestinal immunosuppression, all of which were markedly reversed by XOS administration. In addition, compared with the HC group, HCX feeding remarkably promoted the intestinal activities of digestive and brush border enzymes, and the expressions of cell proliferation-related proteins (Wnt10b and Cyclin D1). The 16s rDNA sequencing also revealed that XOS administration increased the abundance of beneficial bacteria, and decreased that of pathogenic ones. In conclusion, dietary supplementation of XOS improved the intestinal histomorphology, barrier function, cell proliferation and bacterial communities of carbohydrate-overloaded fish Megalobrama amblycephala.


Asunto(s)
Carpas , Microbioma Gastrointestinal , Glucuronatos , Intestinos , Oligosacáridos , Animales , Microbioma Gastrointestinal/efectos de los fármacos , Oligosacáridos/farmacología , Glucuronatos/farmacología , Carpas/microbiología , Carpas/crecimiento & desarrollo , Intestinos/efectos de los fármacos , Intestinos/patología , Intestinos/microbiología , Mucosa Intestinal/efectos de los fármacos , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patología , Alimentación Animal , Carbohidratos de la Dieta/farmacología , Carbohidratos de la Dieta/efectos adversos , Suplementos Dietéticos
6.
Clin Oral Implants Res ; 35(10): 1273-1285, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38860518

RESUMEN

OBJECTIVES: To retrospectively assess the periodontal conditions of teeth adjacent to and contralateral to implants presenting with or without peri-implantitis, following non-surgical periodontal and peri-implant mechanical therapy. MATERIALS AND METHODS: One hundred and one patients with existing dental implants and chronic periodontitis, who underwent non-surgical periodontal and peri-implant mechanical therapy, were included. The periodontal clinical probing depth (PPD), gingival recession (GR), and bleeding on probing (BOP) were recorded at six sites around the adjacent (Adj-) teeth and the contralateral (CL-) teeth relative to the implant. The potential factors influencing the periodontal conditions of 316 teeth were analyzed by multivariate linear regression models with generalized estimating equation methods and α = .05. RESULTS: The PPD of Adj-teeth was significantly different from that of CL-teeth before and after non-surgical therapy when the implant was diagnosed with peri-implantitis (PI) (p < .05). The PPD of teeth was shown to be affected by neighboring implants diagnosed with peri-implantitis (ß = .825 mm, p < .001), teeth adjacent to implants (ß = .245 mm, p = .004), a molar tooth type (ß = .435 mm, p = .019), and non-surgical therapy (ß = -.522 mm, p < .001). CONCLUSIONS: Relatively compromised periodontal conditions at Adj-teeth after non-surgical PI therapy were detected. Therefore, clinicians should be aware that non-surgical therapy may be less successful at teeth adjacent to implants with PI.


Asunto(s)
Implantes Dentales , Periimplantitis , Humanos , Periimplantitis/etiología , Periimplantitis/terapia , Estudios Retrospectivos , Masculino , Femenino , Persona de Mediana Edad , Implantes Dentales/efectos adversos , Adulto , Anciano , Índice Periodontal , Recesión Gingival/etiología , Periodontitis Crónica/terapia , Periodontitis Crónica/complicaciones , Periodontitis/terapia , Periodontitis/complicaciones , Periodontitis/etiología , Diente
7.
Complement Ther Med ; 82: 103049, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38729273

RESUMEN

BACKGROUND AND PURPOSE: Acupuncture exerts an anti-inflammatory effect and is recommended by the World Health Organization as a complementary therapy for stroke. This study investigated the improvement in neurological function outcome in acute-stage intervention of acute ischemic stroke (AIS), and the anti-inflammatory effect of early acupuncture. METHODS: Fifty patients with AIS were randomly assigned to either a control group (CG, 25 patients, received sham acupuncture) or treatment group (TG, 25 patients, received acupuncture treatment). Acupuncture intervention was administered twice a week for a total of 8 sessions over 4 consecutive weeks. The primary outcome was the changes in the National Institutes of Health Stroke Scale (NIHSS), modified Rankin Scale (mRS), and Barthel Index (BI) scores. The secondary outcome was the changes in serum inflammation-related biomarker levels.(ANAIS trial) RESULTS: A total of 35 patients (18 patients in the CG and 17 patients in the TG) completed the trial. The reduction in NIHSS scores was greater in the TG than in the CG between V2 (second assessment administered after acupuncture intervention) and V1 (first assessment administered before acupuncture intervention; 4.33 ± 1.91 vs. 2.68 ± 1.42, p = 0.005) and between V3 (third assessment administered 28 days after last acupuncture intervention) and V1 (6.00 ± 2.53 vs. 3.83 ± 2.31, p = 0.012). The increase in BI scores was greater in the TG than in the CG between V2 and V1 (28.89 ± 15.39 vs. 14.21 ± 19.38, p = 0.016) and between V3 and V1 (39.41 ± 20.98 vs. 25.00 ± 18.47, p = 0.038). Among participants with high inflammation, the increase in serum IL-12p70 level between V2 and V1 was greater in the TG than in the CG (0.20 ± 0.19 vs. -0.14 ± 0.30, pg/mL p = 0.006). CONCLUSIONS: Acupuncture improved the neurological function of patients with AIS, and the relationship between acupuncture improving neurological function and anti-inflammatory effect needs further study. In addition, studies with larger sample sizes and longer follow-ups as well as multicenter clinical trials are expected in the future.


Asunto(s)
Terapia por Acupuntura , Accidente Cerebrovascular Isquémico , Humanos , Terapia por Acupuntura/métodos , Masculino , Femenino , Accidente Cerebrovascular Isquémico/terapia , Persona de Mediana Edad , Anciano , Método Doble Ciego , Resultado del Tratamiento , Biomarcadores/sangre
8.
APL Bioeng ; 8(2): 026107, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38694891

RESUMEN

Establishing quantitative parameters for differentiating between healthy and diseased cartilage tissues by examining collagen fibril degradation patterns facilitates the understanding of tissue characteristics during disease progression. These findings could also complement existing clinical methods used to diagnose cartilage-related diseases. In this study, cartilage samples from normal, osteoarthritis (OA), and rheumatoid arthritis (RA) tissues were prepared and analyzed using polarization-resolved second harmonic generation (P-SHG) imaging and quantitative image texture analysis. The enhanced molecular contrast obtained from this approach is expected to aid in distinguishing between healthy and diseased cartilage tissues. P-SHG image analysis revealed distinct parameters in the cartilage samples, reflecting variations in collagen fibril arrangement and organization across different pathological states. Normal tissues exhibited distinct χ33/χ31 values compared with those of OA and RA, indicating collagen type transition and cartilage erosion with chondrocyte swelling, respectively. Compared with those of normal tissues, OA samples demonstrated a higher degree of linear polarization, suggesting increased tissue birefringence due to the deposition of type-I collagen in the extracellular matrix. The distribution of the planar orientation of collagen fibrils revealed a more directional orientation in the OA samples, associated with increased type-I collagen, while the RA samples exhibited a heterogeneous molecular orientation. This study revealed that the imaging technique, the quantitative analysis of the images, and the derived parameters presented in this study could be used as a reference for disease diagnostics, providing a clear understanding of collagen fibril degradation in cartilage.

9.
Nat Commun ; 15(1): 2386, 2024 Mar 16.
Artículo en Inglés | MEDLINE | ID: mdl-38493205

RESUMEN

Charge density waves (CDWs) involved with electronic and phononic subsystems simultaneously are a common quantum state in solid-state physics, especially in low-dimensional materials. However, CDW phase dynamics in various dimensions are yet to be studied, and their phase transition mechanism is currently moot. Here we show that using the distinct temperature evolution of orientation-dependent ultrafast electron and phonon dynamics, different dimensional CDW phases are verified in CuTe. When the temperature decreases, the shrinking of c-axis length accompanied with the appearance of interchain and interlayer interactions causes the quantum fluctuations (QF) of the CDW phase until 220 K. At T < 220 K, the CDWs on the different ab-planes are finally locked with each other in anti-phase to form a CDW phase along the c-axis. This study shows the dimension evolution of CDW phases in one CDW system and their stabilized mechanisms in different temperature regimes.

10.
Neuroimage ; 290: 120569, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38461959

RESUMEN

Functional near infrared spectroscopy (fNIRS) and functional magnetic resonance imaging (fMRI) both measure the hemodynamic response, and so both imaging modalities are expected to have a strong correspondence in regions of cortex adjacent to the scalp. To assess whether fNIRS can be used clinically in a manner similar to fMRI, 22 healthy adult participants underwent same-day fMRI and whole-head fNIRS testing while they performed separate motor (finger tapping) and visual (flashing checkerboard) tasks. Analyses were conducted within and across subjects for each imaging approach, and regions of significant task-related activity were compared on the cortical surface. The spatial correspondence between fNIRS and fMRI detection of task-related activity was good in terms of true positive rate, with fNIRS overlap of up to 68 % of the fMRI for analyses across subjects (group analysis) and an average overlap of up to 47.25 % for individual analyses within subject. At the group level, the positive predictive value of fNIRS was 51 % relative to fMRI. The positive predictive value for within subject analyses was lower (41.5 %), reflecting the presence of significant fNIRS activity in regions without significant fMRI activity. This could reflect task-correlated sources of physiologic noise and/or differences in the sensitivity of fNIRS and fMRI measures to changes in separate (vs. combined) measures of oxy and de-oxyhemoglobin. The results suggest whole-head fNIRS as a noninvasive imaging modality with promising clinical utility for the functional assessment of brain activity in superficial regions of cortex physically adjacent to the skull.


Asunto(s)
Imagen por Resonancia Magnética , Espectroscopía Infrarroja Corta , Adulto , Humanos , Imagen por Resonancia Magnética/métodos , Espectroscopía Infrarroja Corta/métodos , Hemodinámica/fisiología , Cráneo
11.
Int Arch Occup Environ Health ; 97(4): 401-412, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38480609

RESUMEN

OBJECTIVE: This study investigates the associations of α1-antitrypsin, inter-α-trypsin inhibitor heavy chain (ITIH4), and 8-isoprostane with lung function in shipyard workers exposed to occupational metal fume fine particulate matter (PM2.5), which is known to be associated with adverse respiratory outcomes. METHODS: A 3-year follow-up study was conducted on 180 shipyard workers with 262 measurements. Personal exposure to welding fume PM2.5 was collected for an 8-h working day. Pre-exposure, post-exposure, and delta (∆) levels of α1-antitrypsin, ITIH4, and 8-isoprostane were determined in urine using enzyme-linked immunosorbent assays. Post-exposure urinary metals were sampled at the beginning of the next working day and analyzed by inductively coupled plasma-mass spectrometry. Lung function measurements were also conducted the next working day for post-exposure. RESULTS: An IQR increase in PM2.5 was associated with decreases of 2.157% in FEV1, 2.806% in PEF, 4.328% in FEF25%, 5.047% in FEF50%, and 7.205% in FEF75%. An IQR increase in PM2.5 led to increases of 42.155 µg/g in ∆α1-antitrypsin and 16.273 µg/g in ∆ITIH4. Notably, IQR increases in various urinary metals were associated with increases in specific biomarkers, such as post-urinary α1-antitrypsin and ITIH4. Moreover, increases in ∆ α1-antitrypsin and ∆ITIH4 were associated with decreases in FEV1/FVC by 0.008% and 0.020%, respectively, and an increase in ∆8-isoprostane resulted in a 1.538% decline in FVC. CONCLUSION: Our study suggests that urinary α1-antitrypsin and ITIH4 could indicate early lung function decline in shipyard workers exposed to metal fume PM2.5, underscoring the need for better safety and health monitoring to reduce respiratory risks.


Asunto(s)
Exposición Profesional , Soldadura , Humanos , Estudios de Seguimiento , Estudios Prospectivos , Exposición Profesional/efectos adversos , Exposición Profesional/análisis , Metales , Material Particulado/análisis , Pulmón , Biomarcadores/orina
12.
J Am Nutr Assoc ; 43(5): 397-403, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38227813

RESUMEN

OBJECTIVE: Benzene is widely recognized as a potential carcinogen. Furthermore, the deficiency of specific nutrients may render individuals more vulnerable to cancer. For instance, ß-cryptoxanthin, which possesses anti-inflammatory, antioxidant, and anticancer properties, has been identified as one such nutrient. Elevated benzene levels and reduced ß-cryptoxanthin levels are reportedly correlated with an augmented susceptibility to cancer. To date, whether these 2 substances are linked with one another in the above correlation is yet to be determined. METHOD: This study included 1358 participants with data on the serum concentration of ß-cryptoxanthin as well as benzene and its derivatives. The data were sourced from the 2003-2004 National Health and Nutrition Examination Survey, a cross-sectional survey of the noninstitutionalized US population. Headspace solid-phase microextraction with gas chromatography and mass spectrometry was used to measure serum benzene and its derivatives, while high-performance liquid chromatography using multiwavelength photodiode-array absorbance detection was employed to quantify serum ß-cryptoxanthin. RESULTS: In this study, male and female participants showed average ß-cryptoxanthin levels of 9.10 ± 6.35 and 9.92 ± 8.95 ug/dL, respectively (p = 0.049). Styrene exhibited the strongest correlation with the change in ß-cryptoxanthin concentration (ß = -3.30, p for trend <0.001) upon comparing highest-quartile participants with those in the lowest quartile, followed by benzene (ß = -2.95, p for trend <0.001), toluene (ß = -2.90, p for trend <0.001), and ethylbenzene (ß = -1.43, p for trend = 0.09). Subgroup analysis by sex displayed a statistically significant negative correlation of ß-cryptoxanthin with benzene, styrene, and toluene in both the unadjusted and multivariate-adjusted models. CONCLUSIONS: The sera of noninstitutionalized US individuals exhibit a negative association of ß-cryptoxanthin levels with benzene and its derivatives. Styrene demonstrates the strongest link with a substantial decline in serum ß-cryptoxanthin levels, followed by benzene, toluene, and ethylbenzene.


Asunto(s)
Benceno , beta-Criptoxantina , Humanos , Femenino , Masculino , beta-Criptoxantina/sangre , Estudios Transversales , Persona de Mediana Edad , Adulto , Derivados del Benceno/sangre , Encuestas Nutricionales , Cromatografía Líquida de Alta Presión , Estados Unidos , Cromatografía de Gases y Espectrometría de Masas , Anciano , Tolueno/sangre , Microextracción en Fase Sólida
13.
medRxiv ; 2024 Jan 09.
Artículo en Inglés | MEDLINE | ID: mdl-38260438

RESUMEN

Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol, important signaling molecules involved in many cellular processes. PLCG1 encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of PLCG1 are observed in multiple cancers, but only one germline variant has been reported. Here we describe three unrelated individuals with de novo heterozygous missense variants in PLCG1 (p.Asp1019Gly, p.His380Arg, and p.Asp1165Gly) who exhibit variable phenotypes including hearing loss, ocular pathology and cardiac septal defects. To model these variants in vivo, we generated the analogous variants in the Drosophila ortholog, small wing (sl). We created a null allele slT2A and assessed the expression pattern. sl is broadly expressed, including in wing discs, eye discs, and a subset of neurons and glia. Loss of sl causes wing size reductions, ectopic wing veins and supernumerary photoreceptors. We document that mutant flies exhibit a reduced lifespan and age-dependent locomotor defects. Expressing wild-type sl in slT2A mutant rescues the loss-of-function phenotypes whereas expressing the variants causes lethality. Ubiquitous overexpression of the variants also reduces viability, suggesting that the variants are toxic. Ectopic expression of an established hyperactive PLCG1 variant (p.Asp1165His) in the wing pouch causes severe wing phenotypes, resembling those observed with overexpression of the p.Asp1019Gly or p.Asp1165Gly variants, further arguing that these two are gain-of-function variants. However, the wing phenotypes associated with p.His380Arg overexpression are mild. Our data suggest that the PLCG1 de novo heterozygous missense variants are pathogenic and contribute to the features observed in the probands.

14.
Neurotherapeutics ; 21(1): e00323, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38244258

RESUMEN

Mitochondrial diseases are inherited disorders that impede the mitochondria's ability to produce sufficient energy for the cells. They can affect different parts of the body, notably the brain. Neurological symptoms and epilepsy are prevalent in patients with mitochondrial disorders. The epileptogenicity of mitochondrial disorder is a complex process involving the intricate interplay between abnormal energy metabolism and neuronal activity. Several modalities have been used to detect seizures in different disorders including mitochondrial disorders. EEG serve as the gold standard for diagnosis and localization, commonly complemented by additional imaging modalities to enhance source localization. In the current work, we propose the use of functional near-infrared spectroscopy (fNIRS) to identify the occurrence of epilepsy and seizure in patients with mitochondrial disorders. fNIRS proves an advantageous imaging technique due to its portability and insensitivity to motion especially for imaging infants and children. It has added a valuable factor to our understanding of energy metabolism and neuronal activity. Its real-time monitoring with high spatial resolution supplements traditional diagnostic tools such as EEG and provides a comprehensive understanding of seizure and epileptogenesis. The utility of fNIRS extends to its ability to detect changes in Cytochrome c oxidase (CcO) which is a crucial enzyme in cellular respiration. This facet enhances our insight into the metabolic dimension of epilepsy related to mitochondrial dysfunction. By providing valuable insights into both energy metabolism and neuronal activity, fNIRS emerges as a promising imaging technique for unveiling the complexities of mitochondrial disorders and their neurological manifestations.


Asunto(s)
Epilepsia , Enfermedades Mitocondriales , Niño , Lactante , Humanos , Espectroscopía Infrarroja Corta/métodos , Epilepsia/diagnóstico por imagen , Epilepsia/metabolismo , Encéfalo/metabolismo , Convulsiones , Enfermedades Mitocondriales/diagnóstico por imagen
15.
J Stomatol Oral Maxillofac Surg ; 125(3): 101673, 2023 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-37923135

RESUMEN

The purpose of this study was to evaluate the utility of ¹8F-fluorodeoxyglucose positron emission tomography/computed tomography (FPCT) parameters for detecting recurrent disease and the outcomes of salvage surgery in patients with locally advanced oral tongue squamous cell carcinoma (TSCC) after multimodal treatment. In total, 69 patients with locally advanced TSCC were treated with multimodal therapy. All patients underwent whole-body FPCT scans 4-10 months after the initial surgery. The analysis included FPCT parameters, such as maximum standardized uptake value (SUVmax), metabolic tumor volume (MTV), and total lesion glycolysis (TLG). Histological examination was used as the reference standard. Patients with recurrent TSCC underwent salvage surgery or surgery plus systemic treatment. This study included 69 patients: 36 in the recurrent TSCC group and 33 in the non-recurrent TSCC group. The SUVmax, MTV, and TLG in the recurrent TSCC group were 11.3 ± 3.6, 28.3 ± 15.6 cm3, and 113.2 ± 46.8 g, respectively; these values were 5.9 ± 3.6, 5.1 ± 2.2 cm3, and 13.4 ± 4.8 g, in the non-recurrent TSCC group respectively. The two groups had significant differences in terms of SUVmax, MTV, and TLG. In the recurrent TSCC group, 91.6 % of patients presented with local, locoregional, and regional disease and underwent salvage surgery plus systemic therapy, whereas 8.4 % had locoregional recurrence with distant metastases alone and underwent surgery plus systemic therapy. The patients were followed up for 12-60 months; 19 and 20 patients in the recurrent and non-recurrent TSCC groups showed no evidence of disease, whereas 11 and 8 were alive with the disease. Local recurrence or distant metastases led to the deaths of six patients in the recurrent TSCC group and five in the non-recurrent TSCC group. No significant differences in survival were observed between the two groups. FPCT parameters can detect the recurrence of locally advanced TSCC after multimodal treatment. Early salvage surgery can improve the treatment outcomes for recurrent TSCC.

16.
J Phys Chem Lett ; 14(45): 10263-10270, 2023 Nov 16.
Artículo en Inglés | MEDLINE | ID: mdl-37939010

RESUMEN

We present the resonant Raman spectra of a single-wall carbon nanotube inside a multiwall boron nitride nanotube (SWNT@BNNT). At EL = 1.58 eV, SWNT@BNNT exhibited resonant Raman spectra at 807 (ωBN) and 804 cm-1 (ωGr). Their intensities almost disappeared at EL = 2.33 eV. We assigned ωBN to the out-of-plane BN phonon mode that coupled with ωGr. At EL = 4.66 eV, the G+ and G- bands of the SWNT@BNNT red-shifted 3.8 cm-1 compared with the SWNT, suggesting the interwall interactions between the in-plane modes of SWNT and BNNT. Moreover, the E2g mode of the BNNT in SWNT@BNNT appeared at 1370.3 ± 0.1 cm-1, which is undistinguishable for EL < 3 eV because of the overlap with the D band frequency. The assignment of the present Raman spectra was confirmed through the first-principles calculations.

17.
ACS Appl Mater Interfaces ; 15(47): 54942-54951, 2023 Nov 29.
Artículo en Inglés | MEDLINE | ID: mdl-37973616

RESUMEN

Nanochannels with controllable gating behavior are attractive features in a wide range of nanofluidic applications including viral detection, particle sorting, and flow regulation. Here, we use selective sidewall functionalization of nanochannels with a polyelectrolyte brush to investigate the channel gating response to variations in solution pH and ionic strength. The conformational and structural changes of the interfacial brush layer within the channels are interrogated by specular and off-specular neutron reflectometry. Simultaneous fits of the specular and off-specular signals, using a dynamical theory model and a fitting optimization protocol, enable detailed characterization of the brush conformations and corresponding channel geometry under different solution conditions. Our results indicate a collapsed brush state under basic pH, equivalent to an open gate, and an expanded brush state representing a partially closed gate upon decreasing the pH and salt concentration. These findings open new possibilities in noninvasive in situ characterization of tunable nanofluidics and lab-on-chip devices with advanced designs and improved functionality.

18.
BMC Oral Health ; 23(1): 672, 2023 09 17.
Artículo en Inglés | MEDLINE | ID: mdl-37718438

RESUMEN

BACKGROUND: Nasopharyngeal carcinoma (NPC) is more common in men aged 40 to 59, and radiotherapy is an effective treatment. Nasopharyngeal lymphoma (NPL) is rare, and the coexistence of nasopharyngeal mantle cell lymphoma (MCL) and NPC is even rarer. A collision tumor is a rare type of tumor that refers to two or more different tumors occurring in the same organ. No reports to date have described a collision tumor of NPC and MCL occurring within the same nasopharyngeal mass. We herein report the successful treatment of a unique case of synchronous coexistence of NPC and MCL occurring in the nasopharynx of a Chinese man. CASE PRESENTATION: A 58-year-old man presented with a 5-month history of swallowing discomfort. Biopsy was performed under nasopharyngeal endoscopy, and histopathology revealed NPC. Magnetic resonance imaging revealed lesions in the nasopharynx, oropharynx, and tonsils, as well as enlarged lymph nodes in the parotid gland, posterior ear, and neck. This may be a synchronous dual primary tumor coexisting with NPC and NPL. Pathology consultation confirmed that the biopsy specimen of the nasopharynx was a collision tumor of NPC and MCL. Positron emission tomography computed tomography (PET-CT) revealed thickening of the posterior wall of the nasopharynx, which was considered NPC with lymphoma. The enlargement of the pharyngeal lymph ring and multiple hypermetabolic lymph nodes were evaluated as lymphoma infiltration. The patient received two courses of R-CHOP chemotherapy (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) followed by head and neck radiotherapy. At the time of this writing, he had remained alive without recurrence for 61 months since the initial treatment and was still undergoing follow-up. CONCLUSIONS: It is very important to correctly recognize collision tumors. Magnetic resonance imaging helps identify different components of collision tumors. Pathological examination helps to confirm the diagnosis. Histological examination reveals different components, and PET-CT can help determine the extent of the lesion. Dose-adjusted chemotherapy combined with radiotherapy may have promising herapeutic effects, but additional case studies are needed to confirm.


Asunto(s)
Linfoma de Células del Manto , Neoplasias Nasofaríngeas , Masculino , Humanos , Adulto , Persona de Mediana Edad , Carcinoma Nasofaríngeo , Linfoma de Células del Manto/diagnóstico por imagen , Linfoma de Células del Manto/terapia , Tomografía Computarizada por Tomografía de Emisión de Positrones , Neoplasias Nasofaríngeas/diagnóstico por imagen , Nasofaringe
19.
Scand J Work Environ Health ; 49(6): 419-427, 2023 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-37449304

RESUMEN

OBJECTIVE: The purpose of this study was to assess cancer risk among agricultural workers compared to the general population. METHODS: The study utilized data from Farmers' Health Insurance (FHI) in Taiwan, which enrolled agricultural workers (N=1 175 149). The enrolled workers were matched to a general population (N=1 175 149) of the same age, gender, township, and enrollment year. The study population was linked to the National Cancer Registry to identify new cancer cases between 2000 and 2018. The Cox proportional hazards model was used to estimate the hazard ratio and 95% confidence interval for outcomes. RESULTS: During the study period, 136 913 new cancers among agricultural workers were identified. The study found that male farmers had an increased cancer risk, including lymphocytic leukemia, chronic myelogenous leukemia, non-Hodgkin's lymphoma (NHL), oral cancer, lip cancer, esophagus cancer, rectum and rectosigmoid junction cancer, liver and intrahepatic bile duct cancer, lung cancer, trachea and bronchi cancer, and other non-melanoma skin cancer, even when considering the latency period. Female farmers had an elevated risk of multiple myeloma and other non-melanoma skin cancer. Moreover, only lymphoma, NHL, other lymphoid, and multiple myeloma, were both found to occur at different insurance periods. CONCLUSIONS: This study provides farmer cancer patterns and risk, adding to the evidence that farmers are at increased risk of certain types of cancer, especially for hematological cancers. As exposure varies by farm operation type, individual farmer exposure may vary widely. Further understanding of the complex relationship between occupational exposure, environmental factors, and lifestyle factors is needed.


Asunto(s)
Enfermedades de los Trabajadores Agrícolas , Linfoma no Hodgkin , Mieloma Múltiple , Exposición Profesional , Neoplasias Cutáneas , Humanos , Masculino , Femenino , Agricultores , Estudios de Cohortes , Taiwán/epidemiología , Linfoma no Hodgkin/epidemiología , Neoplasias Cutáneas/complicaciones , Exposición Profesional/efectos adversos , Factores de Riesgo , Enfermedades de los Trabajadores Agrícolas/epidemiología , Enfermedades de los Trabajadores Agrícolas/etiología
20.
Aquac Nutr ; 2023: 8347921, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37415969

RESUMEN

Growth retardation and prolonged marketing cycle have been noticed in the practical aquaculture of Chinese mitten crab (Eriocheir sinensis) fed with artificial feed. Plant protein hydrolysates contain a large number of small peptides and free amino acids, which can improve the growth performance of aquatic animals. However, the potential mechanisms are still not well elucidated. In this research, the influences of cottonseed meal protein hydrolysate (CPH) on the growth, feed utilization, muscle growth, and molting performance were investigated in E. sinensis. A total of 240 crabs (mean body weight 37.32 ± 0.38 g) were individually randomly distributed to six diets supplemented with 0%, 0.2%, 0.4%, 0.8%, 1.6%, and 3.2% of CPH for 12 weeks. These findings indicated that the addition of CPH at 0.4% significantly increased the survival rate, body protein gain, apparent protein utilization, trypsin and pepsin activities, and the methyl farnesoate content. When the dose reached 0.8%, the weight growth ratio, meat yield, ecdysone concentration, and the transcription of the ecdysteroid receptor all significantly increased, while the transcriptions of both myostatin and molt-inhibiting hormone significantly decreased. When CPH was added at 1.6%-3.2%, the feed conversion ratio, body crude protein content, Na+/K+-ATPase activity, and the molting ratio were all significantly improved, while the opposite was true for the transcription of the transforming growth factor-ß type I receptor. The investigation results indicated that when added above 0.4%, CPH could stimulate the growth performance of E. sinensis and promote the muscle growth and molting performance.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA