A Blade-Type Triboelectric-Electromagnetic Hybrid Generator with Double Frequency Up-Conversion Mechanism for Harvesting Breeze Wind Energy.

Triboelectric nanogenerators (TENGs) have garnered substantial attention in breeze wind energy harvesting. However, how to improve the output performance and reduce friction and wear remain challenging. To this end, a blade-type triboelectric-electromagnetic hybrid generator (BT-TEHG) with a double frequency up-conversion (DFUC) mechanism is proposed. The DFUC mechanism enables the TENG to output a high-frequency response that is 15.9 to 300 times higher than the excitation frequency of 10 to 200 rpm. Coupled with the collisions between tribomaterials, a higher surface charge density and better generating performance are achieved. The magnetization direction and dimensional parameters of the BT-TEHG were optimized, and its generating characteristics under varying rotational speeds and electrical boundary conditions were studied. At wind speeds of 2.2 and 10 m/s, the BT-TEHG can generate, respectively, power of 1.30 and 19.01 mW. Further experimentation demonstrates its capacity to charge capacitors, light up light emitting diodes (LEDs), and power wireless temperature and humidity sensors. The demonstrations show that the BT-TEHG has great potential applications in self-powered wireless sensor networks (WSNs) for environmental monitoring of intelligent agriculture.

Ultrahigh Energy Storage Density and Efficiency in Orthorhombic PLZST Antiferroelectric Ceramics via Composition Regulation.

PbZrO3-based antiferroelectric (AFE) ceramic materials have emerged as potential candidates for the next generation of high-energy multilayer ceramic capacitors (MLCCs) because of their distinctive characteristics of double hysteresis loops. The energy storage efficiency of orthorhombic AFE ceramics with ultrahigh storage density is relatively low, which hinders their practical application. In this study, the low efficiency limit of PLZST-based orthorhombic ceramics was overcome by precisely adjusting the Sn4+ content in the (Pb0.95Ca0.02La0.02)(Zr0.99-xSnxTi0.01)O3 AFE ceramics. On one hand, the addition of Sn4+ disrupts the original long-range dipole and improves the rapid response of polarization reversal under the applied voltage. As a result, the difference in electric hysteresis under an electric field is reduced, leading to a significant improvement in energy storage efficiency. On the other hand, increasing the Sn4+ content suppresses the formation of oxygen vacancies, inhibiting grain growth and strengthening grain bonding. This results in ceramics with a high breakdown field strength. Ultimately, the resulting PLCZST ceramics reveal an expressively improved recoverable energy density of 10.2 J cm-3 together with a high energy efficiency of 91.4% under a high applied electric field of 560 kV cm-1. The present study demonstrates the tunability of performance in orthorhombic PLZST AFE ceramics, thereby introducing a ceramic material with exceptional energy storage capabilities for MLCC applications.

Dapagliflozin can alleviate renal fibrosis in rats with streptozotocin­induced type 2 diabetes mellitus.

The aim of the present study was to explore the effects of Dapagliflozin on renal fibrosis in streptozotocin (STZ)-induced type 2 diabetes mellitus (T2DM) rats, and to determine the underlying mechanism of action. A total of 24 SPF male SD rats were randomly divided into 4 groups: A normal (Control) group, model group (STZ-induced T2DM rats), Dapagliflozin group (STZ-induced T2DM rats treated with 1 mg/kg Dapagliflozin), and a metformin group (STZ-induced T2DM rats treated with 200 mg/kg metformin), with 6 rats per a group. Peripheral blood and renal tissues were collected from these rats, and the renal indices of each group were examined. The fasting blood glucose (FBG), glycosylated hemoglobin (HbA1c), blood urea nitrogen (BUN), and serum creatinine (SCr) of rats were detected. After 24 h, the urine was collected and the urine protein levels were measured. Hematoxylin and eosin staining was used to detect histological changes in the rat kidney; Masson staining was used to observe the degree of fibrosis in rat renal tissues; and western blot was performed to determine the expression levels of α-smooth muscle actin (SMA), vimentin, E-cadherin, TGF-ß1, Smad7, and p-Smad3 in rat renal tissues. Dapagliflozin effectively inhibited the increase in FBG and HbA1c levels in diabetic mice, reduced renal tissue damage, reduced the renal index values, reduced collagen deposition in the glomerulus and interstitial area, and reduced the proliferation of glomerular mesangial cells. In addition, Dapagliflozin significantly lowered the levels of BUN, SCr, and 24-h urine protein, decreased the protein expression of α-SMA, vimentin, TGF-ß1, and p-Smad3, and increased the protein expression levels of E-cadherin and Smad7. Together, these results showed that Dapagliflozin alleviated renal fibrosis in STZ-induced T2DM rats, and its mechanism of action may be related to the inhibition of the TGF-ß1/Smad pathway.

Synergistic Interplay of Dual-Active-Sites on Metallic Ni-MOFs Loaded with Pt for Thermal-Photocatalytic Conversion of Atmospheric CO2 under Infrared Light Irradiation.

Infrared light driven photocatalytic reduction of atmospheric CO2 is challenging due to the ultralow concentration of CO2 (0.04 %) and the low energy of infrared light. Herein, we develop a metallic nickel-based metal-organic framework loaded with Pt (Pt/Ni-MOF), which shows excellent activity for thermal-photocatalytic conversion of atmospheric CO2 with H2 even under infrared light irradiation. The open Ni sites are beneficial to capture and activate atmospheric CO2 , while the photogenerated electrons dominate H2 dissociation on the Pt sites. Simultaneously, thermal energy results in spilling of the dissociated H2 to Ni sites, where the adsorbed CO2 is thermally reduced to CO and CH4 . The synergistic interplay of dual-active-sites renders Pt/Ni-MOF a record efficiency of 9.57 % at 940 nm for converting atmospheric CO2 , enables the procurement of CO2 to be independent of the emission sources, and improves the energy efficiency for trace CO2 conversion by eliminating the capture media regeneration and molecular CO2 release.

Heterophase junction engineering: Enhanced photo-thermal synergistic catalytic performance of CO2 reduction over 1T/2H-MoS2.

Photocatalytic CO2 reduction technology has been proposed as a promising solution to the greenhouse effect and energy crisis. However, the lower quantum efficiency limits its practical applications. Here, we have significantly improved the photocatalytic CO2 reduction performance of MoS2 by coupling the heterophase junction (1T/2H-MoS2) construction and photo-thermal synergy strategies. At 200 °C and 42 mW·cm-2 of 420 nm LED irradiation, the CO production rate of 1T/2H-MoS2 reached 35.3 µmol·g-1·h-1, which was 3.5 and 2.8 times that of 1T-MoS2 and 2H-MoS2, respectively. In addition, only faint CO was detected under sole photo- or sole thermal catalysis conditions. Mechanism studies showed that COOH* was the key intermediate in the photo-thermal synergistic catalytic CO2 reduction over 1T/2H-MoS2. The heterophase junction engineering significantly facilitated the separation of photogenerated carriers, and the introduction of heat accelerated the charge migration and surface reaction rates. Our work provides innovative insights into the catalyst design and mechanism studies for photo-thermal synergistic catalytic CO2 reduction.

Dark-Light Tandem Catalytic Oxidation of Formaldehyde over SrBi2Ta2O9 Nanosheets.

Formaldehyde (HCHO), as one of the main indoor toxic pollutions, presents a great threat to human health. Hence, it is imperative to efficiently remove HCHO and create a good indoor living environment for people. Herein, a layered perovskite material SrBi2Ta2O9 (SBT), was studied for the first time and exhibited superior photocatalytic efficiency and stability compared to commercial TiO2 (P25). Furthermore, a unique dark-light tandem catalytic mechanism was constructed. In the dark reaction stage, HCHO (Lewis base) site was adsorbed on the terminal (Bi2O2)2+ layer (Lewis acid) site of SBT in the form of Lewis acid-base complexation and was gradually oxidized to CO32- intermediate (HCHO → DOM (dioxymethylene) → HCOO- → CO32-). Then, in the light reaction stage, CO32- was completely converted into CO2 and H2O (CO32- → CO2). Our study contributes to a thorough comprehension of the photocatalytic oxidation of HCHO and points out its potential for day-night continuous work applications in a natural environment.

FMO1 Promotes Nonalcoholic Fatty Liver Disease Progression by Regulating PPARα Activation and Inducing Ferroptosis.

BACKGROUND: The function of flavin containing dimethylaniline monooxygenase 1 (FMO1), which is known to play a part in lipid metabolism, remains unclear in the development of nonalcoholic fatty liver disease (NAFLD). This research has the objective of examining the contributions of FMO1 in the progression of NAFLD and the associated mechanisms, particularly the peroxisome proliferator activated receptor alpha (PPARα) and ferroptosis pathways. METHODS: An in vitro NAFLD model was established by treating L02 cells with free fatty acids (FFAs). The FMO1 and ferroptosis levels were examined in the cellular NAFLD model. FMO1 was knocked down using short-interfering RNA transfection. The effects of FMO1 knockdown on lipid accumulation, PPARα expression, and ferroptosis were examined in the cellular NAFLD model. Additionally, the effects of FMO1 and/or PPARα overexpression on lipid metabolism and ferroptosis were analyzed. Furthermore, L02 cells were pre-treated with GW7647 (PPARα agonist) or RSL3 (ferroptosis activator) and stimulated with FFAs. RESULTS: The levels of FMO1 and ferroptosis were upregulated in the in vitro NAFLD model. FMO1 knockdown suppressed the FFA-induced accumulation of lipids in hepatocytes, downregulation of PPARα expression, and upregulation of ferroptosis. In contrast, FMO1 overexpression dysregulated lipid metabolism and downregulated PPARα levels. Meanwhile, PPARα overexpression mitigated the FMO1 overexpression-induced upregulation of ferroptosis and lipid accumulation. Treatment with RSL3 suppressed the effects of PPARα overexpression on lipid accumulation and FMO1 expression. CONCLUSIONS: FMO1 upregulates ferroptosis by suppressing PPARα in NAFLD, which leads to the dysregulation of lipid metabolism.

The reliability of a subtype-determining questionnaire in efficient benign paroxysmal positional vertigo diagnosis in geriatrics.

Introduction: Benign paroxysmal positional vertigo (BPPV), the most common cause of dizziness, especially for older adults, exposes patients to the lethal risk of falling. However, the diagnosis of BPPV in this population can be more elusive as they present few characteristic symptoms. Therefore, we explored the application of a subtype-determining questionnaire in BPPV diagnosis among the geriatric population. Methods: Patients were assigned to the aware and unaware groups. In the aware group, the technician would directly test the suspected canal indicated by the questionnaire, whereas, in the unaware group, the technician performed the regular positional test. The diagnostic parameters of the questionnaire were examined. Results: The accuracy, sensitivity, and specificity of questions 1-3 for diagnosing BPPV were 75.8, 77.6, and 74.7%, respectively. Question 4 demonstrated an accuracy of 75.6% in ascertaining the BPPV subtype, question 5 showed an accuracy of 75.6% in determining the affected side, and question 6 yielded an accuracy of 87.5% in distinguishing canalithiasis or cupulolithiasis. Examination time was shorter in the aware group than that in the unaware group (P < 0.05). No difference was found between the two groups for treatment time (P = 0.153). Conclusion: This subtype-determining questionnaire is practical in daily use and capable of providing instructive information for an efficient diagnosis in geriatric patients with BPPV.

Identification of Signature Genes of Dilated Cardiomyopathy Using Integrated Bioinformatics Analysis.

Dilated cardiomyopathy (DCM) is characterized by left ventricular or biventricular enlargement with systolic dysfunction. To date, the underlying molecular mechanisms of dilated cardiomyopathy pathogenesis have not been fully elucidated, although some insights have been presented. In this study, we combined public database resources and a doxorubicin-induced DCM mouse model to explore the significant genes of DCM in full depth. We first retrieved six DCM-related microarray datasets from the GEO database using several keywords. Then we used the "LIMMA" (linear model for microarray data) R package to filter each microarray for differentially expressed genes (DEGs). Robust rank aggregation (RRA), an extremely robust rank aggregation method based on sequential statistics, was then used to integrate the results of the six microarray datasets to filter out the reliable differential genes. To further improve the reliability of our results, we established a doxorubicin-induced DCM model in C57BL/6N mice, using the "DESeq2" software package to identify DEGs in the sequencing data. We cross-validated the results of RRA analysis with those of animal experiments by taking intersections and identified three key differential genes (including BEX1, RGCC and VSIG4) associated with DCM as well as many important biological processes (extracellular matrix organisation, extracellular structural organisation, sulphur compound binding, and extracellular matrix structural components) and a signalling pathway (HIF-1 signalling pathway). In addition, we confirmed the significant effect of these three genes in DCM using binary logistic regression analysis. These findings will help us to better understand the pathogenesis of DCM and may be key targets for future clinical management.

Toxic effects of Tripterygium glycoside tablets on the reproductive system of male rats by metabolomics, cytotoxicity, and molecular docking.

BACKGROUND: Tripterygium glycoside tablets (TGT) is the most common preparation from Tripterygium wilfordii Hook F, which is widely used in clinical for treating rheumatoid arthritis (RA) and other autoimmune diseases. However, its serious reproductive toxicity limits its application. PURPOSE: This study aimed to elucidate the toxic effects of TGT on the reproductive system of male RA rats and its potential toxic components and mechanism. METHODS: Collagen-induced arthritis (CIA) rat model was established, and TGT suspension was given at low, medium, and high doses. Gonadal index, pathological changes, and the number of spermatogenic cells were used to evaluate the toxic effects of TGT on the reproductive system. Non-targeted metabolomics of testicular tissue was conducted by UHPLC-QTOF/MS. Combined with network toxicology, the key targets of TGT-induced reproductive toxicity were screened and RT-qPCR was used to validation. In vitro toxicity of 19 components of TGT was evaluated using TM3 and TM4 cell lines. Molecular docking was used to predict the interaction between toxic components and key targets. RESULTS: TGT reduced testicular and epididymis weight. Pathology analysis showed a lot of deformed and atrophic spermatogenic tubules. The number of spermatogenic cells decreased significantly (P<0.0001). A total of 58 different metabolites including platelet-activating factor (PAF), lysophosphatidylcholine (Lyso PC), phosphatidylinositol (PI), glutathione (GSH), and adenosine monophosphate (AMP) were identified by testicular metabolomics. Glycerophospholipid metabolism, ether lipid metabolism, and glutathione metabolism were key pathways responsible for the reproductive toxicity of TGT. Ten key reproductive toxicity targets were screened by network toxicology. The cytotoxicity test showed that triptolide, triptonide, celastrol, and demethylzeylasteral could significantly reduce the viability of TM3 and TM4 cells. Alkaloids had no apparent toxic effects. Molecular docking showed that the four toxic components had a good affinity with 10 key targets. All binding energies were less than -7 kcal/mol. The RT-qPCR results showed the Cyp19a1 level was significantly up-regulated. Pik3ca and Pik3cg levels were significantly down-regulated. CONCLUSION: Through testicular metabolomics, we found that TGT may cause reproductive toxicity through CYP19A1, PIK3CA, and PIK3CG three target, which was preliminarily revealed. This study laid the foundation for elucidating the toxicity mechanism of TGT and evaluating its safety and quality.

A method of laparoscopic treatment of large adnexal cysts - Two port trocar suction.

OBJECTIVE: The size of the adnexal cyst is a limitation to perform laparoscopic adnexal surgery. Large adnexal cysts may constrain the surgery space and may increase the risk of inadvertent cyst rupture during the surgery. Here, we offer a method to solve the difficulty in laparoscopic management of large adnexal cysts. MATERIALS AND METHODS: This is a retrospective study of 43 patients with large (≧10 cm) adnexal cysts, managed laparoscopically at one center from October 2016 to October 2019. All the surgeries were performed by an experienced laparoscopic surgeon. Malignancy was excluded before the surgeries according to the sonographic features. Cystectomy or salpingo-oophorectomy was decided according to the age, the sonographic pattern of the cyst and the patients' willingness. A 2 cm vertical incision was made at the umbilicus, and an open laparoscopy method was used to enter the peritoneal cavity. A wound protector was applied with a glove and two trocars being set up. The second wound was made at the left abdomen, and a 5 mm trocar was inserted. Then the cyst was punctured by means of the 5 mm trocar, and the content of the cyst was then soon aspirated by means of the air-flow hole of the trocar. Afterward, cystectomy or salpingo-oophorectomy was performed. Data are expressed as mean ± standard deviation unless stated otherwise. RESULTS: The mean operative duration was 54.7 ± 33.4 min, and the result was shorter than the previous study (P < 0.05, CI (-32.92, -12.38)) according to one sample t-test. Most estimated blood loss (EBL) was minimum. No obvious complication was found. CONCLUSION: Two-port trocar suction in laparoscopic management of large adnexal cysts is feasible after proper evaluation, and it takes short operative time.

Effectual surgical perineal reconstruction of malignant mucosal vulvar melanoma.

OBJECTIVE: To demonstrate a successful surgical treatment and reconstruction in a case of malignant mucosal vulvar melanoma. CASE REPORT: A 52-year-old woman had stage II bulky malignant mucosal vulvar melanoma and received wide surgical excision with partial vulvectomy. She underwent 2-steps reconstructive vulvoplasty and vaginoplasty with skin grafting 1 year after initial surgical treatment. There was no evidence of recurrence after 3 years of follow-up. CONCLUSION: Vulvar melanoma is a rare malignant neoplasm. Wide local excision with reconstruction can relieve pelvic discomfort and restore local function after the surgery.

Significance of subtype-determining questionnaire in efficient diagnosis and treatment of BPPV.

BACKGROUND: Rapid recognition of benign paroxysmal positional vertigo (BPPV) matters in many ways, questionnaires evolve as a new alternative for diagnosis. A subtype-determining questionnaire is a more advanced but rarely studied type. OBJECTIVE: To explore the practicability of a subtype-determining questionnaire in facilitating diagnosis and treatment of BPPV. METHODS: A BPPV subtype-determining questionnaire was applied to vertiginous patients. All patients underwent the positional test, performed by one technician, who was either informed or uninformed about questionnaire results randomly. In the informed group, the technician checked the canal indicated by the questionnaire straightforwardly; in the uninformed group, she performed the conventional positional test. Diagnostic parameters of the questionnaire and disparities between the 2 groups were investigated. RESULTS: The accuracy, sensitivity, specificity of question 1-3 for diagnosing BPPV is 74.4%, 90.9%, 66.6% respectively. Question 4 shows an accuracy of 80.7% in determining BPPV subtype, question 5 yields an accuracy of 78.7% in ascertaining the affected side, question 6 exhibits an accuracy of 87.2% in deciding canalithiasis or cupulolithiasis. Both examination and treatment time were shorter in the informed group (p < .05). CONCLUSION: This subtype-determining questionnaire has appealing diagnostic ability. It provides valuable information that's conducive to fast diagnosis and efficient treatment of BPPV.

Effect of Two-Port Laparoscopic Surgery on Pregnancy Outcomes of Patients with Concurrent Adnexal Masses.

Adnexal masses are common in pregnancy, with 2-10% of pregnancies presenting with an ovarian mass and approximately 1-6% of these masses being malignant. For suspected malignancy or masses with symptoms, surgery must be performed as early as possible. We retrospectively investigated the effect of two-port laparoscopic surgery on the outcomes of patients with concurrent adnexal masses between 2012 and 2019 (including large mucinous tumor, large teratoma, serous borderline tumor, and heterotopic pregnancy). Laparoscopic right partial oophorectomy was performed for a 27 cm ovarian mucinous tumor at a gestational age (GA) of 21 weeks, laparoscopic right oophorocystectomy for an 18 cm teratoma at a GA of 10 weeks, and laparoscopic left salpingo-oophorectomy for a 7 cm serous borderline tumor at a GA of 7 weeks after ultrasonographic confirmation of an intrauterine gestational sac with a fetal heartbeat. Laparoscopic excision of a tubal pregnancy was performed in a heterotopic pregnancy at a GA of 12 weeks with massive internal bleeding. Laparoscopic surgery is easier and safe to perform during early pregnancy because a smaller uterus allows for superior visualization. All of these patients had optimal postoperative recovery and normal spontaneous delivery at term. We discussed several aspects of treatment and delivery, namely treatment option (expectant management or surgery), surgery timing (early or advanced pregnancy), surgery type (laparoscopy or laparotomy), and delivery route (normal spontaneous delivery or cesarean section), in patients with concurrent adnexal tumors and their effects on pregnancy outcomes.

Molecular-level insight into photocatalytic CO2 reduction with H2O over Au nanoparticles by interband transitions.

Achieving CO2 reduction with H2O on metal photocatalysts and understanding the corresponding mechanisms at the molecular level are challenging. Herein, we report that quantum-sized Au nanoparticles can photocatalytically reduce CO2 to CO with the help of H2O by electron-hole pairs mainly originating from interband transitions. Notably, the Au photocatalyst shows a CO production rate of 4.73 mmol g-1 h-1 (~100% selectivity), ~2.5 times the rate during CO2 reduction with H2 under the same experimental conditions, under low-intensity irradiation at 420 nm. Theoretical and experimental studies reveal that the increased activity is induced by surface Au-O species formed from H2O decomposition, which synchronously optimizes the rate-determining steps in the CO2 reduction and H2O oxidation reactions, lowers the energy barriers for the *CO desorption and *OOH formation, and facilitates CO and O2 production. Our findings provide an in-depth mechanistic understanding for designing active metal photocatalysts for efficient CO2 reduction with H2O.

Sonographic features differentiating early-stage ovarian clear cell carcinoma from endometrioma with atypical features.

BACKGROUND: Ovarian clear cell carcinoma (OCCC) is the most common endometriosis-associated ovarian cancer. Ovarian endometriosis may present with atypical or malignant sonographic features and interfere with clinical judgment about whether definitive surgical intervention is required. OBJECTIVE: To compare the characteristics of endometrioma with atypical features and OCCC. METHODS: This study enrolled patients with pathologic diagnoses of either endometrioma or OCCC. For patients with endometrioma, only those with atypical features, defined as the presence of at least one of the following sonographic characteristics: cyst diameter of 10 ± 1 cm, multi-cystic lesions, any solid component or papillary structure, and blood flow of any degree, were included. RESULTS: Sixty-three patients had endometriomas with atypical features, while 57 patients had OCCC. Patients with endometriomas were younger (39.33 ± 7.04 years vs. 53.11 ± 9.28 years, P < 0.01), had smaller cysts (7.81 ± 2.81 cm vs. 12.68 ± 4.60 cm, P < 0.01), and had smaller solid components (0.93 ± 1.74 cm vs. 4.82 ± 3.53 cm, P < 0.01). In contrast, OCCCs were associated with loss of ground-glass echogenicity (6.3% vs 68.4%, P < 0.01). In multivariate analysis, advanced age (> 47.5 years), large cysts (> 11.55 cm), large solid components (size > 1.37 cm), and loss of ground-glass echogenicity were independent factors suggestive of malignancy. CONCLUSION: Advanced age, larger cyst sizes, larger solid component sizes, and loss of ground-glass echogenicity are major factors differentiating endometriomas from malignancies. For women in menopausal transition who have finished childbearing who present with endometrioma with atypical features, removal of the adnexa intact could be considered.

Analyzing the learning curve of vaginal pelvic reconstruction surgery with and without mesh by the cumulative summation test (CUSUM).

Women who underwent vaginal pelvic reconstructive surgery with or without mesh consecutively between 2004 and 2018 were retrospectively analyzed to determine the learning curve in vaginal pelvic reconstructive surgery. With cumulative summation (CUSUM) analysis of surgical failure and operation time, we assessed the learning curve of vaginal pelvic reconstructive surgery, including sacrospinous ligament fixation, anterior colporrhaphy, posterior colporrhaphy, and optional vaginal hysterectomy with or without mesh placement. The study is based on two individual surgeons who performed vaginal pelvic reconstructive surgery with or without mesh. Two hundred and sixty-four women with stage III or IV pelvic organ prolapse underwent vaginal pelvic reconstructive surgery by surgeons A or B. The median follow-up time of 44 months ranged from 24 to 120 months. Surgical proficiency was achieved in 32-33 vaginal pelvic reconstructive surgery procedures without mesh and 37-47 procedures in the same surgery with mesh. The total surgical success rates for surgeons A and B were 82.2% and 94.1%, with median follow-up times of 60 and 33 months, respectively. More procedures were needed for the learning curve of vaginal pelvic reconstructive surgery with mesh. Having crossed the proficiency boundary, the surgical success rate and operation time were improved.

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.

BACKGROUND: Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by mutations in the PCCA or PCCB gene, leading to propionyl CoA carboxylase (PCC) enzyme deficiencies. Most PA patients present variable clinical phenotypes and severity in the neonatal or infant period, with only a few developing symptoms after infancy. This report describes a PA patient with an adult-onset phenotype and a novel compound heterozygous mutation in the PCCB gene. To further explore the genotype-phenotype correlations in late-onset PA, we performed a literature review focusing on and summarizing 11 patients with PCC gene mutations who had the first onset and/or the definite diagnosis after infancy. CASE PRESENTATION: A 21-year-old PA patient presented with weakness of four limbs, gait abnormalities, two episodes of seizures, mental and behavior disorders after severe vomiting. Magnetic Resonance Imaging (MRI) demonstrated sustained bilateral caudate head and putamen symmetrical hyperintensity. Biochemical investigations revealed plasma amino and urine values correlating with a PA profile. Genetic analysis confirmed novel compound heterozygous variants in PCCB, with a newly-found pathogenic mutation (c.467T>C) and the c.1316A>G mutation associated with pathogenicity. CONCLUSION: We identified a novel compound heterozygous mutation in the PCCB gene causing late-onset PA. Patients carrying mutations in the PCCB gene tend to develop late-onset PA and present neuropsychiatric symptoms and/or signs. Further molecular biological research is needed to explore the genotype-phenotype correlations of PA.