Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: A case report and review

Deletion in the Xp22.31 region is increasingly suggested to be involved in the etiology of epilepsy. Little is known regarding the genomic and clinical delineations of X-linked epilepsy in the Chinese population or the sex-stratified difference in epilepsy characteristics associated with deletions in the Xp22.31 region. In this study, we reported two siblings with a 1.69 Mb maternally inherited microdeletion at Xp22.31 involving the genes VCX3A, HDHD1, STS, VCX, VCX2, and PNPLA4 presenting with easily controlled focal epilepsy and language delay with mild ichthyosis in a Chinese family with a traceable 4-generation history of skin ichthyosis. Both brain magnetic resonance imaging results were normal, while EEG revealed epileptic abnormalities. We further performed an exhaustive literature search, documenting 25 patients with epilepsy with gene defects in Xp22.31, and summarized the epilepsy heterogeneities between sexes. Males harboring the Xp22.31 deletion mainly manifested with child-onset, easily controlled focal epilepsy accompanied by X-linked ichthyosis; the deletions were mostly X-linked recessive, with copy number variants (CNVs) in the classic region of deletion (863.38 kb–2 Mb). In contrast, epilepsy in females tended to be earlier-onset, and relatively refractory, with pathogenic CNV sizes varying over a larger range (859 kb–56.36 Mb); the alterations were infrequently inherited and almost combined with additional CNVs. A candidate region encompassing STS, HDHD1, and MIR4767 was the likely pathogenic epilepsy-associated region. This study filled in the knowledge gap regarding the genomic and clinical delineations of X-linked recessive epilepsy in the Chinese population and extends the understanding of the sex-specific characteristics of Xp22.31 deletion in regard to epilepsy

Chromosomal aberrations in pediatric patients with moderate/severe developmental delay/intellectual disability with abundant phenotypic heterogeneities: A single-center study

Background: This study aimed to examine the clinical usefulness of chromosome microarray (CMA) for selective implementation in patients with unexplained moderate or severe developmental delay/intellectual disability (DD/ID) and/or combined with different dysphonic features in the Han Chinese population. Methods: We retrospectively analyzed data on 122 pediatric patients with unexplained isolated moderate/severe DD/ID with or without autism spectrum disorders, epilepsy, dystonia, and congenital abnormalities from a single-center neurorehabilitation clinic in southern China. Results: A total of 46 probands (37.7%) had abnormal CMA results among the 122 study patients. With the exclusion of aneuploidies, uniparental disomies, and multiple homozygotes, 37 patients harbored 39 pathogenic copy number variations (pCNVs) (median [interquartile range] size: 3.57 [1.6 to 7.1] Mb; 33 deletions and 6 duplications), enriched in chromosomes 5, 7, 15, 17, and 22, with a markedly high prevalence of Angelman/Prader-Willi syndrome (24.3% [nine of 37]). Three rare deletions in the regions 5q33.2q34, 17p13.2, and 13q33.2 were reported, with specific delineation of clinical phenotypes. The frequencies of pCNVs were 18%, 33.3%, 38.89%, 41.67%, and 100% for patients with 1, 2, 3, 4, and 5 study phenotypes, respectively; patients with more concomitant abnormalities in the heart, brain, craniofacial region, and/or other organs had a higher CMA diagnostic yield and pCNV prevalence (P \u3c 0.05). Conclusions: Clinical application of CMA as a first-tier test among patients with moderate/severe DD/ID combined with congenital structural anomalies improved diagnostic yields and the quality of clinical management in this series of patients

Minimally invasive versus open McKeown esophagectomy for patients with esophageal squamous cell carcinoma after neoadjuvant PD-1 inhibitor plus chemotherapy

IntroductionThe purpose of this study was to compare short and mid-term outcomes in esophageal squamous cell carcinoma (ESCC) patients undergoing open or minimally invasive McKeown esophagectomy (MIE) after neoadjuvant PD-1 inhibitor plus chemotherapy.MethodsPatients with locally advanced ESCC underwent open or minimally invasive McKeown esophagectomy after neoadjuvant PD-1 inhibitor plus chemotherapy were retrospectively included from June 2019 to June 2021. The baseline characteristics, pathological data, short-and mid-term outcomes were collected and compared based on the surgical approach.ResultsA total of 35 patients were included in the study. An open procedure was performed for 13 patients (37.1%), and 22 (62.9%) patients underwent MIE after neoadjuvant therapy. Compared with open group, MIE group had shorter operative times (350.8± 117.8 vs. 277.9 ± 30.2 min, P = 0.009). The total number of resected lymph nodes was not significantly different, but more left recurrent laryngeal lymph nodes were harvested from the Open group (2.6 ± 3.2 vs. 0.9 ± 1.7, P = 0.047). The median follow-up time was 1.42 years (range, 0.35–2.59 years) from the first day of treatment. Three patients (8.6%) died during follow-up, one in the open surgery group and two in the MIE group. There were six (17.1%) patients developed recurrence, three in each group. The 2-year cumulative survival rates were 92.3 ± 7.4% and 89.5 ± 7.1% for the open and MIE groups, respectively. Overall survival was not different between the two surgical approaches.ConclusionsMIE might be safe and feasible for patients with locally advanced ESCC undergoing neoadjuvant PD-1 inhibitor plus chemotherapy

Supra-additive effect of chronic inflammation and atherogenic dyslipidemia on developing type 2 diabetes among young adults: A prospective cohort study

Background: Both elevated inflammation and atherogenic dyslipidemia are prominent in young-onset diabetes and are increasingly identified as biologically intertwined processes that contribute to diabetogenesis. We aimed to investigate the age-specific risks of type 2 diabetes (T2D) upon concomitant chronic inflammation and atherogenic dyslipidemia. Methods: Age-stratified Cox regression analysis of the risk of incident diabetes upon co-exposure to time-averaged cumulative high-sensitivity C-reactive protein (CumCRP) and atherogenic index of plasma (CumAIP) among 42,925 nondiabetic participants from a real-world, prospective cohort (Kailuan Study). Results: During a median 6.41 years of follow-up, 3987 T2D developed. Isolated CumAIP and CumCRP were significantly associated with incident T2D in the entire cohort and across all age subgroups. Both CumAIP and CumCRP were jointly associated with an increased risk of diabetes (P-interaction = 0.0126). Compared to CumAIP \u3c -0.0699 and CumCRP \u3c 1 mg/L, co-exposure to CumAIP ≥ − 0.0699 and CumCRP ≥ 3 mg/L had a significant hazard ratio (HR) [2.55 (2.23–2.92)] after adjusting for socio-demographic, life-style factors, family history of diabetes, blood pressure, renal function and medication use. The co-exposure-associated risks varied greatly by age distribution (P-interaction = 0.0193): \u3c 40 years, 6.26 (3.47–11.28); 40–49 years, 2.26 (1.77–2.89); 50–59 years, 2.51 (2.00–3.16); 60–69 years, 2.48 (1.86–3.30); ≥ 70 years, 2.10 (1.29–3.40). In young adults ( \u3c 45 years), both exposures had a significant supra-additive effect on diabetogenesis (relative excess risk due to interaction: 0.80, 95% CI 0.10–1.50). Conclusions: These findings highlight the need for age-specific combined assessment and management of chronic inflammation and dyslipidemia in primary prevention against T2D, particularly for young adults. The clinical benefit derived from dual-target intervention against dyslipidemia and inflammation will exceed the sum of each part alone in young adults

A critical survey of power take-off systems based wave energy converters: Summaries, advances, and perspectives

Being one of the most promising renewable energy sources, ocean wave energy (OWE) demonstrates considerable development and application potential. Consequently, various related technologies have rapidly advanced in recent decades, particularly in the field of wave energy converters (WEC). Power take-off (PTO) stands as a vital element within WEC systems. During the planning and implementation of WEC systems, diverse types of PTO systems and control strategies emerge as crucial factors that impact overall power output and stability. To comprehensively review PTO systems, this paper offers a comprehensive overview and discussion of state-of-the-art development status of PTO, including of based structures, working principles and control strategies. In contrast to prior reviews, a more thorough classification and comparison of different PTO systems have been undertaken in this review with the consideration of seven types of PTO systems in total and detailed control strategies for various PTO types. Besides, the proposed framework includes an evaluation and comparison of advantages/disadvantages, application, complexity, and costs for each controller. Lastly, seven invaluable perspectives are proposed for future research

A critical survey of technologies of large offshore wind farm integration : summary, advances, and perspectives

Offshore wind farms (OWFs) have received widespread attention for their abundant unexploited wind energy potential and convenient locations conditions. They are rapidly developing towards having large capacity and being located further away from shore. It is thus necessary to explore effective power transmission technologies to connect large OWFs to onshore grids. At present, three types of power transmission technologies have been proposed for large OWF integration. They are: high voltage alternating current (HVAC) transmission, high voltage direct current (HVDC) transmission, and low-frequency alternating current (LFAC) or fractional frequency alternating current transmission. This work undertakes a comprehensive review of grid connection technologies for large OWF integration. Compared with previous reviews, a more exhaustive summary is provided to elaborate HVAC, LFAC, and five HVDC topologies, consisting of line-commutated converter HVDC, voltage source converter HVDC, hybrid-HVDC, diode rectifier-based HVDC, and all DC transmission systems. The fault ride-through technologies of the grid connection schemes are also presented in detail to provide research references and guidelines for researchers. In addition, a comprehensive evaluation of the seven grid connection technologies for large OWFs is proposed based on eight specific indicators. Finally, eight conclusions and six perspectives are outlined for future research in integrating large OWFs

Salp swarm optimization algorithm based MPPT design for PV-TEG hybrid system under partial shading conditions

This paper proposes an innovative strategy to integrate thermoelectric generator (TEG) and photovoltaic (PV) systems, aiming to enhance energy production efficiency by addressing the significant waste heat generated during traditional PV system operation. Additionally, photovoltaic-thermoelectric generator (PV-TEG) hybrid system encounters the dual challenge of partial shading conditions (PSC) and non-uniform temperature distribution (NTD). Thus, salp swarm optimization (SSA) is introduced to simultaneously tackle the negative impacts of PSC and NTD. In contrast to alternative meta-heuristic algorithms (MhAs) and conventional mathematical approaches, the streamlined and effective optimization mechanism inherent to SSA affords a shorter optimization time, while mitigating the risk of the PV-TEG hybrid system's optimization outcomes being confined to local maximum power points (LMPP). Furthermore, the optimization performance of SSA for PV-TEG hybrid systems is assessed via four case studies, including start-up test, stepwise variations in solar irradiation at constant temperature, stochastic change in solar irradiation, and field measured data for typical days in Hong Kong, in which simulation results show that SSA evinces unparalleled global exploration and local search capabilities, yielding heightened energy output (up to 43.75%) and effectively suppressing power fluctuations in the PV-TEG hybrid system (as evidenced by ΔVavg and ΔVmax)