Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 17.453
Filter
1.
Heliyon ; 10(11): e32398, 2024 Jun 15.
Article in English | MEDLINE | ID: mdl-38961900

ABSTRACT

The use of trade credit finance is becoming more widely acknowledged as a crucial approach to improving inventory system profitability. We review an inventory model with depending on permitted payment delays for which, if the retailer place an orders higher than or equal to a predefined quantity S 1 , then the supplier will provide a fully pay in later facility of ξ periods (i.e., there will be no charge of interest until ξ ). On the other hand the retailer need to pay a partial amount of payment to the supplier if the order quantity is less than S 1 , and the remaining amount may be deferred for up to ξ periods. Main objective of this study is to investigate the inventory model with different situations under delayed payment facility. In addition, determining the product's demand also involves taking into account the item's greenness and selling price. We have also considered the fact that the cost of buying is influenced by the product's degree of greenness. We employ the meta heuristic algorithm Grey Wolf Optimizar (GWO) to assist us in solving the problem, and we compare the outcomes with the aid of a few other algorithms (Whale optimisation algorithm (WOA) and Artificial electric field algorithm (AEFA)). In the end, we resolve several numerical cases to support the model. The concavity of the desired function is graphically displayed using MATLAB software.

4.
Paediatr Anaesth ; 2024 Jul 09.
Article in English | MEDLINE | ID: mdl-38980227

ABSTRACT

Domino liver transplantation and domino-auxiliary partial orthotopic liver transplantation are emerging techniques that can expand the liver donor pool and provide hope for children with liver disease. The innovative technique of domino liver transplantation has emerged as a pioneering strategy, capitalizing on structurally preserved livers from donors exhibiting single enzymatic defects within a morphologically normal context, effectively broadening the donor pool. Concurrently, the increasingly prevalent domino-auxiliary partial orthotopic liver transplantation method assumes a critical role in bolstering available donor resources. These advanced transplantation methods present a unique opportunity for pediatric patients who, despite having structurally and functionally intact livers and lacking early signs of portal hypertension or extrahepatic involvement, do not attain priority on conventional transplant lists. Utilizing optimal clinical conditions enhances posttransplant outcomes, benefiting patients who would otherwise endure extended waiting periods for traditional transplantation. The perioperative management of children undergoing these procedures is complex and requires careful consideration of some factors, including clinical and metabolic conditions of the specific metabolic disorder, and the need for tailored perioperative management planning. Furthermore, the prudent consideration of de novo disease development in the recipient assumes paramount significance when selecting suitable donors for domino liver transplantation, as it profoundly influences prognosis, mortality, and morbidity. This narrative review of domino liver transplantation will discuss the pathophysiology, clinical evaluation, perioperative management, and prognostic expectations, focusing on perioperative anesthetic considerations for children undergoing domino liver transplantation.

5.
Ann Surg Oncol ; 2024 Jul 09.
Article in English | MEDLINE | ID: mdl-38980582

ABSTRACT

BACKGROUND: Radiotherapy (RT) represents an alternative treatment option for patients with T1 squamous cell carcinoma of the penis (SCCP), with proven feasibility and tolerability. However, it has never been directly compared with partial penectomy (PP) using cancer-specific mortality (CSM) as an end point. METHODS: In the Surveillance, Epidemiology, and End Results database (2000-2020), T1N0M0 SCCP patients treated with RT or PP were identified. This study relied on 1:4 propensity score-matching (PSM) for age at diagnosis, tumor stage, and tumor grade. Subsequently, cumulative incidence plots as well as multivariable competing risks regression (CRR) models addressed CSM. Additionally, the study accounted for the confounding effect of other-cause mortality (OCM). RESULTS: Of 895 patients with T1N0M0 SCCP, 55 (6.1%) underwent RT and 840 (93.9%) underwent PP. The RT and PP patients had a similar age distribution (median age, 70 vs 70 years) and more frequently harbored grade I or II tumors (67.3% vs 75.8%) as well as T1a-stage disease (67.3% vs 74.3%). After 1:4 PSM, 55 (100%) of the 55 RT patients versus 220 (26.2%) of the 840 PP patients were included in the study. The 10-year CSM derived from the cumulative incidence plots was 25.4% for RT and 14.4% for PP. In the multivariable CRR models, RT independently predicted a higher CSM than PP (hazard ratio, 1.99; 95% confidence interval, 1.05-3.80; p = 0.04). CONCLUSION: For the T1N0M0 SCCP patients treated in the community, RT was associated with nearly a twofold higher CSM than PP. Ideally, a validation study based on tertiary care institution data should be conducted to test whether this CSM disadvantage is operational only in the community or not.

6.
Drug Dev Ind Pharm ; : 1-13, 2024 Jul 09.
Article in English | MEDLINE | ID: mdl-38980706

ABSTRACT

ObjectiveTo develop a Raman spectroscopy-based analytical model for quantification of solid dosage forms of active pharmaceutical ingredient (API) of Atenolol.Significance:For the quantitative analysis of pharmaceutical drugs, Raman Spectroscopy is a reliable and fast detection method. As part of this study, Raman Spectroscopy is explored for the quantitative analysis of different concentrations of Atenolol.MethodsVarious solid-dosage forms of Atenolol were prepared by mixing API with excipients to form different solid-dosage formulations of Atenolol. Multivariate data analysis techniques such as Principal Component Analysis (PCA) and Partial least square regression (PLSR) were used for the qualitative and quantitative analysis, respectively.ResultsAs the concentration of the drug increased in formulation, the peak intensities of the distinctive Raman spectral characteristics associated with the API (Atenolol) gradually increased. Raman spectral data sets were classified using PCA due to their distinctive spectral characteristics. Additionally, a prediction model was built using PLSR analysis to assess the quantitative relationship between various API (Atenolol) concentrations and spectral features. With a goodness of fit value of 0.99, the root mean square errors of calibration (RMSEC) and prediction (RMSEP) were determined to be 1.0036 mg and 2.83 mg, respectively. The API content in the blind/unknown Atenolol formulation was determined as well using the PLSR model.ConclusionBased on these results, Raman spectroscopy may be used to quickly and accurately analyze pharmaceutical samples and for their quantitative determination.

7.
Quintessence Int ; 0(0): 0, 2024 Jul 10.
Article in English | MEDLINE | ID: mdl-38985439

ABSTRACT

OBJECTIVES: To evaluate clasp-retained removable partial dentures (C-RPDs) with a metal framework for survival, maintenance requirements, and biological implications. METHOD AND MATERIALS: C-RPDs were retrospectively analyzed based on patient records. Treatment failure was defined as fracture of a framework component (metal base or connector) or loss of an abutment tooth. Other outcome variables included factors that might conceivably impact C-RPD survival (maxilla vs. mandible, Kennedy classes, opposing dentitions, treatment by students vs. certified dentists), mobility and caries of abutment teeth (in relation to clasp designs), and maintenance requirements (relining, clasp or resin fractures). Differences were evaluated by appropriate statistical tests at the P ≤ .05 level. RESULTS: A total of 612 patients (339 men, 273 women) 60.0 ± 11.5 years old at delivery were included, covering 842 C-RPDs and a mean observation period of 42.1 ± 33.2 months. Kaplan-Meier C-RPD survival was 76.2% after 5 years and 49.5% after 10 years. Biological complications (i.e. loss of abutment teeth) accounted for the vast majority (95.6%) of C-RPDs failures, and Kaplan-Meier C-RPD survival was significantly better in the mandible (P = .015). Some clasp designs contributed significantly to caries and removal of abutment teeth (both P < .05). No other significant differences were noted. CONCLUSION: Tooth loss both emerges as the main cause of C-RPDs failure and might be amenable to careful selection of clasp designs. Overall, better C-RPD survival should be expected in the mandible. A non-contributory role of Kennedy classes and opposing dentitions is tentatively suggested based on numerically heterogeneous subgroups.

8.
Quintessence Int ; 0(0): 0, 2024 Jul 10.
Article in English | MEDLINE | ID: mdl-38985438

ABSTRACT

OBJECTIVES: This study aimed to evaluate the effect of the clinical removal of fixed partial dentures (FPDs) on oral health-related quality of life (OHRQoL) and the anxiety values of individuals and to determine the clinical factors of high anxiety levels. METHOD AND MATERIALS: In total, 300 participants were included in this study. Six different reasons for the clinical removal of FPDs (oral examination, denture renewal, endodontic treatment, tooth extraction, periodontal treatment, and composite filling restoration) were defined. The United Kingdom Oral Health-Related Quality-of-Life Measure (OHRQoL-UK), the Modified Dental Anxiety Scale (MDAS), and the Spielberger State-Trait Anxiety Inventory- State (STAI-S) and Trait (STAI-T) were answered. The reason groups were compared using one-way analyses of variance (ANOVA). Binary logistic regression analyses were performed to evaluate the risk factors for high anxiety. RESULTS: There was no significant difference in OHRQoL-UK scores (P=.279) among the reason groups, but there were significant differences in MDAS, STAI-S, and STAI-T scores (P=.004, P<.001, P=.018 respectively) among the reason groups. Endodontic treatment, tooth extraction, and gender were determined to be risk factors, considering the anxiety scales. CONCLUSIONS: Females are 2.2 times more likely to have trait anxiety than men. Although the effect of the reason for the clinical removal of FPDs on OHRQoL was similar among the groups, it is concluded that endodontic treatment and tooth extraction reasons for the clinical removal of FPDs could be risk factors for high anxiety regardless of FPD usage time.

10.
J Surg Oncol ; 2024 Jul 11.
Article in English | MEDLINE | ID: mdl-38992990

ABSTRACT

BACKGROUND: The standard approach to hemostasis during partial nephrectomy (PN) is to perform suture renorrhaphy (SR). Application of a hemostatic bandage (HB) is an alternative to minimize blood loss and devitalized renal parenchyma. We aim to evaluate perioperative outcomes of PN with tumor enucleation (TE) comparing SR to HB. METHODS: We analyzed a retrospective cohort of 195 patients undergoing robot-assisted laparoscopic PN with TE performed at a tertiary referral center (2012-2022). Hemostasis was obtained with SR in 54 patients while 141 patients underwent application of HB consisting of Surgicel®, Gelfoam® soaked in thrombin, and Floseal®. RESULTS: SR patients had tumors of greater complexity by RENAL nephrometry score compared to HB patients (p < 0.001). Operative time (141 vs. 183 min, p < 0.001), warm ischemia time (11.6 vs. 24.2 min, p < 0.001), estimated blood loss (37 vs. 214 mL, p < 0.001), and length of stay (1.2 vs. 1.8 days, p < 0.001) favored HB. There was no significant difference in Clavien-Dindo grade ≥3 complications (p = 0.22). Renal function was comparable with mean estimated glomerular filtration rate decrease of 0.66 and 0.54 mL/min/1.73 m2 at 3 months postoperatively for HB and SR, respectively (p = 0.93). CONCLUSIONS: Application of an HB is a safe alternative to SR for hemostasis following PN with TE in appropriately selected patients.

11.
Sci Rep ; 14(1): 15541, 2024 Jul 05.
Article in English | MEDLINE | ID: mdl-38969678

ABSTRACT

Physics-informed neural networks (PINN) have recently become attractive for solving partial differential equations (PDEs) that describe physics laws. By including PDE-based loss functions, physics laws such as mass balance are enforced softly in PINN. This paper investigates how mass balance constraints are satisfied when PINN is used to solve the resulting PDEs. We investigate PINN's ability to solve the 1D saturated groundwater flow equations (diffusion equations) for homogeneous and heterogeneous media and evaluate the local and global mass balance errors. We compare the obtained PINN's solution and associated mass balance errors against a two-point finite volume numerical method and the corresponding analytical solution. We also evaluate the accuracy of PINN in solving the 1D saturated groundwater flow equation with and without incorporating hydraulic heads as training data. We demonstrate that PINN's local and global mass balance errors are significant compared to the finite volume approach. Tuning the PINN's hyperparameters, such as the number of collocation points, training data, hidden layers, nodes, epochs, and learning rate, did not improve the solution accuracy or the mass balance errors compared to the finite volume solution. Mass balance errors could considerably challenge the utility of PINN in applications where ensuring compliance with physical and mathematical properties is crucial.

12.
BMC Public Health ; 24(1): 1812, 2024 Jul 08.
Article in English | MEDLINE | ID: mdl-38972984

ABSTRACT

BACKGROUND: Smoking rationalisation beliefs are a huge barrier to quitting smoking. What types of rationalisations should be emphasised in smoking cessation interventions? Although past literature has confirmed the negative relationship between those beliefs and motivation to stop smoking, little is known regarding the importance and performance of those beliefs on motivation with varying cigarette dependence. The study aimed to ascertain rationalisations that are highly important for motivation yet perform poorly in different cigarette dependence groups. METHODS: The cross-sectional study was conducted from November 19 to December 9, 2023 in Guiyang City, China. Adult male current smokers were enrolled. Partial least squares structural equation modelling was used to test the hypothesis. The multi-group analysis was used to determine the moderating effect of cigarette dependence, and the importance-performance map analysis was utilised to assess the importance and performance of rationalisations. RESULTS: A total of 616 adult male current smokers were analysed, and they were divided into the low cigarette dependence group (n = 297) and the high cigarette dependence group (n = 319). Except for risk generalisation beliefs, smoking functional beliefs (H1: -ß = 0.131, P < 0.01), social acceptability beliefs (H3: ß = -0.258, P < 0.001), safe smoking beliefs (H4: ß = -0.078, P < 0.05), self-exempting beliefs (H5: ß = -0.244, P < 0.001), and quitting is harmful beliefs (H6: ß = -0.148, P < 0.01) all had a significant positive influence on motivation. Cigarette dependence moderated the correlation between rationalisations and motivation. In the high-dependence group, the social acceptability beliefs and smoking functional beliefs were located in the "Concentrate Here" area. In the low-dependence group, the social acceptability beliefs were also situated in there. CONCLUSIONS: Social acceptability beliefs and smoking functional beliefs showed great potential and value for improvement among high-dependence smokers, while only social acceptability beliefs had great potential and value for improvement among low-dependence smokers. Addressing these beliefs will be helpful for smoking cessation. The multi-group analysis and the importance-performance map analysis technique have practical implications and can be expanded to other domains of health education and intervention practice.


Subject(s)
Motivation , Smoking Cessation , Humans , Male , China , Cross-Sectional Studies , Adult , Smoking Cessation/psychology , Middle Aged , Smokers/psychology , Smokers/statistics & numerical data , Health Knowledge, Attitudes, Practice , Young Adult , Tobacco Use Disorder/psychology , Tobacco Use Disorder/therapy , East Asian People
13.
Mol Ther ; 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38981468

ABSTRACT

Recombinant adeno-associated virus (rAAV) vector gene delivery systems have demonstrated great promise in clinical trials but continue to face durability and dose-related challenges. Unlike rAAV gene therapy, integrating gene addition approaches can provide curative expression in mitotically active cells and pediatric populations. We explored a novel in vivo delivery approach based on an engineered transposase, Sleeping Beauty (SB100X), delivered as an mRNA within a lipid nanoparticle (LNP), in combination with an rAAV-delivered transposable transgene. This combinatorial approach achieved correction of ornithine transcarbamylase deficiency in the neonatal Spfash mouse model following a single delivery to dividing hepatocytes in the newborn liver. Correction remained stable into adulthood, while a conventional rAAV approach resulted in a return to the disease state. In non-human primates, integration by transposition, mediated by this technology, improved gene expression 10-fold over conventional rAAV-mediated gene transfer while requiring 5-fold less vector. Additionally, integration site analysis confirmed a random profile while specifically targeting TA dinucleotides across the genome. Together, these findings demonstrate that transposable elements can improve rAAV-delivered therapies by lowering the vector dose requirement and associated toxicity while expanding target cell types.

14.
Water Environ Res ; 96(7): e11075, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38982895

ABSTRACT

Partial nitritation (PN) is a novel treatment for nitrogen removal using aerobic ammonium oxidation with reduced oxygen requirements compared to conventional nitrification. This study evaluated the performance of the PN process and the factors influencing nitrogen removal from landfill leachate. During the reactivation of biomass, the results showed 70% ammonium removal, but only 20% total nitrogen removal. Further analysis showed that low nitrite accumulation and high nitrate production promoted the growth of nitrite-oxidizing bacteria (NOB). The ammonium removal activity after soaking the cultivated biomass in synthetic water and leachate was measured to be 0.57, 0.1, 0.17, and 0.25 g N•g VSS-1•d-1 for synthetic wastewater and leachate soaking for synthetic wastewater, 12 h, 3 days, and 7 days, respectively. The study found abundant ammonium-oxidizing bacteria (AOB) and NOBs in biomass soaked in synthetic wastewater. However, soaking in leachate promoted AOB growth and inhibited NOB growth making leachate suitable for PN. PRACTITIONER POINTS: The study found that with a longer leachate-soaking period for biomass, ammonium removal activity increases, which in turn increases ammonium conversions during the PN process. Ammonium-oxidizing bacteria (AOB) can acclimate to landfill leachate substrate and grow with a longer soaking period. Nitrite-oxidizing bacteria (NOB) were inhibited by landfill leachate substrate, which is beneficial for nitrite accumulation. Anabolized DO can convert nitrite to nitrate rapidly, which results in higher nitrate accumulation compared to nitrite accumulation. Hence, the DO level has to be sufficiently low to prevent nitrite oxidation and nitrate accumulation.


Subject(s)
Ammonium Compounds , Bioreactors , Oxidation-Reduction , Wastewater , Water Pollutants, Chemical , Wastewater/chemistry , Water Pollutants, Chemical/metabolism , Water Pollutants, Chemical/chemistry , Ammonium Compounds/metabolism , Ammonium Compounds/chemistry , Bacteria/metabolism , Nitrification , Waste Disposal, Fluid/methods , Nitrites/metabolism , Nitrites/chemistry
15.
Article in English | MEDLINE | ID: mdl-38977487

ABSTRACT

PURPOSE: The study aimed to identify parameters that could predict oncological and functional outcomes in patients with pT4aN0 laryngeal squamous cell carcinoma (LSCC) who underwent open partial horizontal laryngectomy (OPHL). The role of paratracheal neck dissection (PTND) was analyzed as the primary outcome. Additionally, the study compared the outcomes of patients who underwent postoperative radio/chemotherapy (PORT/PORCT) with those who refused or did not adhere to adjuvant treatments. METHODS: Twenty-nine OPHL patients whose pathological exam was consistent with pT4aN0-x disease were enrolled and their clinical charts were retrospectively reviewed. The study analyzed oncological outcomes, such as local, regional, and distant recurrence rates (RR), overall survival (OS), disease-free survival (DFS), and disease-specific survival (DSS). Additionally, functional results were analyzed, including decannulation rate, hospitalization time, and postoperative complication rate. RESULTS: The study revealed and overall recurrence rate of 27%. The final rates for OS and DSS were 68% and 79%, respectively. Based on the univariate analysis the PTND was significantly associated with longer DFS. No significant differences inoncological outcomes were observed between pT4a patients who underwent adjuvant radio/radiochemotherapy and those who did not, in terms of RR, DFS, DSS or OS. However, adjuvant treatment was found to significantly increase decannulation time. CONCLUSIONS: In a properly super-selected subgroup of patients with pT4aN0 LSCC, OPHL may beconsidered as a conservative surgical option even without adjuvant treatment. However, for optimal oncological outcomes, it is strongly recommended to consider a central compartment dissection in cases of hypoglottic and anterior extra-laryngeal tumor extension.

16.
Food Chem ; 457: 140089, 2024 Jun 12.
Article in English | MEDLINE | ID: mdl-38955122

ABSTRACT

Ice fractions and water states in partially frozen muscle foods greatly affect their quality. In the study, a variable temperature nuclear magnetic resonance (VT-NMR) with a liquid nitrogen temperature control system was employed to in situ investigate the relationship between ice fractions and temperatures and changes in water states during partial freezing and thawing of pork and shrimp. Results indicated that changes in ice fractions ranging from -2 âˆ¼ -20 °C could be divided into 3 stages including slow increase, random leap and remarkable leap. More serious damages to the structures related to immobile water occurred in shrimp than in pork, and partial freezing also caused deterioration in muscle fibres related to free water. Additionally, -2 âˆ¼ -3 °C and - 3.5 °C were the appropriate partial freezing temperatures for pork and shrimp, respectively. Therefore, the VT-NMR method possessed great potential for fundamental studies and applications of partial freezing of muscle foods.

17.
Cancer Diagn Progn ; 4(4): 534-538, 2024.
Article in English | MEDLINE | ID: mdl-38962537

ABSTRACT

Background/Aim: Diagnosing primary splenic malignant lymphoma (PSML) is challenging due to the non-specific nature of splenomegaly, necessitating splenic biopsy for confirmation. However, performing partial splenic resection for diagnostic purposes is an elective procedure due to the risk of major hemorrhage. Despite the longstanding practice of splenectomy over the past few decades, it remains invasive and may result in severe early or late complications. Hence, we present laparoscopic partial splenectomy (LPS) in a patient suspicious of PSML for diagnostic purposes in this study. Case Report: An 81-year-old woman presented to our hospital with a one-month history of fever and dry cough. Atypical cells had been detected in her peripheral blood nine months ago. However, at that time, a bone marrow examination did not reveal any atypical cells. The laboratory tests revealed a soluble interleukin receptor-2 levels of 4,667 U/dl and atypical cells were also found in peripheral blood. Abdominal computed tomography showed splenomegaly without any other relevant findings. These findings are suspicious of PSML and LPS without vessel ligation was performed and a small fraction of the spleen from the inferior pole measuring 1.8×1.0 cm was resected. The operation lasted for 63 min with minimal estimated blood loss. Histopathological findings were compatible with the diagnosis of diffuse B-cell lymphoma. The postoperative clinical course was uneventful, and splenomegaly demonstrated improvement six months after the operation. Conclusion: LPS without vessel ligation for biopsy may be valuable for the diagnosis of malignant lymphoma, particularly when there are no swollen lymph nodes, as it offers a less invasive approach.

18.
Cureus ; 16(6): e61610, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38962625

ABSTRACT

The "double bipolar method" (DBM) in robotic surgery has been widely used in Japanese general surgery and gynecology; however, it is not commonly used in the field of urology. A 55-year-old female was diagnosed with stage IA endometrial cancer. A 2-cm cystic lesion was incidentally observed at the dome of the bladder on magnetic resonance imaging. A simultaneous robot-assisted total hysterectomy and partial cystectomy using the da Vinci Xi system was planned. The gynecological procedure was first performed with the DBM, and the DBM was also used in the partial cystectomy without additional instruments to reduce surgical costs. Maryland bipolar forceps was used to excise the peritoneum, fat, and bladder wall without bleeding, enabling delicate and precise resection using the forceps' tips. Robot-assisted partial cystectomy using the DBM was feasible. When performing combined surgeries with other departments, if the DBM is already being utilized, it is worthwhile to attempt to decrease surgical cost.

19.
World J Orthop ; 15(6): 520-528, 2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38947261

ABSTRACT

A discoid meniscus is a morphological abnormality wherein the meniscus loses its normal 'C' shape. Although most patients are asymptomatic, patients might still present with symptoms such as locking, pain, swelling, or giving way. Magnetic resonance imaging is usually needed for confirmation of diagnosis. Based on a constellation of factors, including clinical and radiological, different approaches are chosen for the management of discoid meniscus. The purpose of this review is to outline the treatment of discoid meniscus, starting from conservative approach, to the different surgical options for this condition. The PubMed and Google Scholar databases were used for this review. Studies discussing the treatment of discoid meniscus from 2018 to 2023 were searched. Initially there were 369 studies retrieved, and after removal of studies using the exclusion criteria, 26 studies were included in this review. Factors such as stability, presence of tear, and morphology can help with surgical planning. Many approaches have been used to treat discoid meniscus, where the choice is tailored for each patient individually. Postoperatively, factors that may positively impact patient outcomes include male sex, body mass index < 18.5, age at symptom onset < 25 years, and duration of symptoms < 24 months. The conventional approach is partial meniscectomy with or without repair; however, recently, there has been an increased emphasis on discoid-preserving techniques such as meniscoplasty, meniscopexy, and meniscal allograft transplantation.

20.
Diabetol Metab Syndr ; 16(1): 145, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38951919

ABSTRACT

INTRODUCTION AND AIM: Type 3 Familial Partial Lipodystrophy (FPLD3) is a rare metabolic disease related to pathogenic PPARG gene variants. FPLD3 is characterized by a loss of fatty tissue in the upper and lower limbs, hips, and face. FPLD3 pathophysiology is usually associated with metabolic comorbidities such as type 2 diabetes, insulin resistance, hypertriglyceridemia, and liver dysfunction. Here, we clinically and molecularly characterized FPLD3 patients harboring novel PPARG pathogenic variants. MATERIALS AND METHODS: Lipodystrophy-suspected patients were recruited by clinicians from an Endocrinology Reference Center. Clinical evaluation was performed, biological samples were collected for biochemical analysis, and DNA sequencing was performed to define the pathogenic variants associated with the lipodystrophic phenotype found in our clinically diagnosed FPLD subjects. Bioinformatics predictions were conducted to characterize the novel mutated PPARγ proteins. RESULTS: We clinically described FPLD patients harboring two novel heterozygous PPARG variants in Brazil. Case 1 had the c.533T > C variant, which promotes the substitution of leucine to proline in position 178 (p.Leu178Pro), and cases 2 and 3 had the c.641 C > T variant, which results in the substitution of proline to leucine in the position 214 (p.Pro214Leu) at the PPARγ2 protein. These variants result in substantial conformational changes in the PPARγ2 protein. CONCLUSION: Two novel PPARG pathogenic variants related to FPLD3 were identified in a Brazilian FPLD cohort. These data will provide new epidemiologic data concerning FPLD3 and help understand the genotype-phenotype relationships related to the PPARG gene.

SELECTION OF CITATIONS
SEARCH DETAIL
...