BACKGROUND: Severe combined immunodeficiency (SCID) is a life-threatening genetic disorder caused by critical defects of the immune system. Almost all cases are lethal if not treated within the first two years of life. Early diagnosis and intervention are thus essential for improving patient outcomes. In 2013, Ontario became the first Canadian province to perform newborn screening (NBS) for SCID by T cell receptor excision circles (TRECs) analysis, a surrogate marker of thymic function and lymphocyte maturation.
METHODS: This retrospective study reports on nearly 10 years of NBS for SCID at a quaternary referral centre.
RESULTS: From August 2013 to April 2023, our centre\'s densely populated catchment area flagged 162 newborns with low TRECs levels, including 10 cases with SCID. Follow-up revealed other causes of low TRECs, including non-SCID T cell lymphopenia (secondary/reversible or idiopathic causes, and syndromic conditions) and prematurity. A small number of cases with normal repeat TRECs levels and/or T cell subsets were also flagged. Province-wide data from around this period revealed at least 24 diagnosed cases of SCID or Leaky SCID.
CONCLUSIONS: This is the first report of NBS outcomes in a Canadian province describing the causative genetic defects, and the non-SCID causes of a positive NBS for SCID.

Early diagnosis and effective management of Primary immunodeficiency diseases (PIDs), particularly severe combined immunodeficiency (SCID), play a crucial role in minimizing associated morbidities and mortality. Newborn screening (NBS) serves as a valuable tool in facilitating these efforts. Timely detection and diagnosis are essential for swiftly implementing isolation measures and ensuring prompt referral for definitive treatment, such as allogeneic hematopoietic stem cell transplantation. The utilization of comprehensive protocols and screening assays, including T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC), is essential in facilitating early diagnosis of SCID and other PIDs, but their successful application requires clinical expertise and proper implementation strategy. Unfortunately, a notable challenge arises from insufficient funding for the treatment of PIDs. To address these issues, a collaborative approach is imperative, involving advancements in technology, a well-functioning healthcare system, and active engagement from stakeholders. The integration of these elements is essential for overcoming the existing challenges in NBS for PIDs. By fostering synergy between technology providers, healthcare professionals, and governmental stakeholders, we can enhance the efficiency and effectiveness of early diagnosis and intervention, ultimately improving outcomes for individuals with PIDs.

OBJECTIVE: Pelvic inflammatory disease (PID) is usually managed by conservative treatment, but in selected cases, especially in the presence of a tubo-ovarian abscess (TOA), surgical management is a recognized treatment option. We compared the trends in managing PID and short-term outcomes before and during the SARS-CoV-2 pandemic.
METHODS: This is a retrospective study performed in three Italian gynecological centers. We included patients admitted to hospital with a diagnosis of PID. Demographic characteristics, management, time to diagnosis, and time to treatment were compared before versus during the SARS-CoV-2 pandemic.
RESULTS: One hundred nineteen PID patients were screened, eighty-one before the SARS-CoV-2 pandemic, and thirty-eight after the onset. At admission, leukocytosis (median 19.73 vs. 13.99 WBC/mm3, p-value = 0.02) was significantly higher in patients who underwent surgery after the onset of the pandemic. TOA incidence was higher in patients who underwent surgery during the SARS-CoV-2 pandemic, but the difference did not reach statistically significance (p = 0.06). The proportion of patients treated with surgery dropped to 26.3% after the onset from 46% of patients before the onset of pandemic (p = 0.03). Furthermore, a higher percentage of emergency surgical procedures on day 0 of hospital admission were performed after the onset of the pandemic (50% vs. 13.1%, p = 0.01).
CONCLUSIONS: In this retrospective cohort study, we found that the SARS-CoV-2 pandemic influenced the clinical presentation and management of PID in favor of conservative treatment. Patients who underwent surgery during the SARS-CoV-2 pandemic had higher inflammatory markers.

UNASSIGNED: Sea jellyfish stings pose a threat to human health, and traditional detection methods face challenges in terms of accuracy and real-time capabilities.
UNASSIGNED: To address this, we propose a novel algorithm that integrates YOLOv4 object detection, an attention mechanism, and PID control. We enhance YOLOv4 to improve the accuracy and real-time performance of detection. Additionally, we introduce an attention mechanism to automatically focus on critical areas of sea jellyfish stings, enhancing detection precision. Ultimately, utilizing the PID control algorithm, we achieve adaptive adjustments in the robot\'s movements and posture based on the detection results. Extensive experimental evaluations using a real sea jellyfish sting image dataset demonstrate significant improvements in accuracy and real-time performance using our proposed algorithm. Compared to traditional methods, our algorithm more accurately detects sea jellyfish stings and dynamically adjusts the robot\'s actions in real-time, maximizing protection for human health.
UNASSIGNED: The significance of this research lies in providing an efficient and accurate sea jellyfish sting detection algorithm for intelligent robot systems. The algorithm exhibits notable improvements in real-time capabilities and precision, aiding robot systems in better identifying and addressing sea jellyfish stings, thereby safeguarding human health. Moreover, the algorithm possesses a certain level of generality and can be applied to other applications in target detection and adaptive control, offering broad prospects for diverse applications.

Auxin plays a key role in plant growth and development through auxin local synthesis, polar transport, and auxin signaling. Many previous reports on Arabidopsis have found that various types of auxin-related genes are involved in the development of the cotyledon, including the number, symmetry, and morphology of the cotyledon. However, the molecular mechanism by which auxin is involved in cotyledon formation remains to be elucidated. PID, which encodes a serine/threonine kinase localized to the plasma membrane, has been found to phosphorylate the PIN1 protein and regulate its polar distribution in the cell. The loss of function of pid resulted in an abnormal number of cotyledons and defects in inflorescence. It was interesting that the pid mutant interacted synergistically with various types of mutant to generate the severe developmental defect without cotyledon. PID and these genes were indicated to be strongly correlated with cotyledon formation. In this review, PID-centered genetic interactions, related gene functions, and corresponding possible pathways are discussed, providing a perspective that PID and its co-regulators control cotyledon formation through multiple pathways.

UNASSIGNED: Secondary infertility is characterized by the inability to conceive for a period of 1 year, after having previously conceived at least once.
UNASSIGNED: To explore the risk factors of secondary infertility and compare sociodemographics and anthropometric variables of each studied group.
UNASSIGNED: Study was conducted at University Institute of Public Health, Faculty of Allied Health Sciences, The University of Lahore, collecting data from Gilani Ultrasound Center in 18 months after approval of synopsis. Total 690 females (345 cases and 345 controls) were enrolled. Participants were included in case group if they were 20-45 years of age, having any parity, and confirmed diagnosis of secondary infertility.
UNASSIGNED: The mean age of cases and controls was 33.08 ± 4.17 years and 31.37 ± 4.36 years, respectively. The mean body mass index (BMI) in cases was 27.61 ± 4.27 kg/m2, and in controls the mean BMI was 25.52 ± 4.30 kg/m2. There was not a significant difference among religion that shows no association (p = 0.73) with secondary infertility as profession has association with it (p = 0.01). History of polycystic ovary syndrome, pelvic inflammatory disease, endometriosis, uterine fibroids, menorrhagia, intermenstrual bleeding, and history of abortion are associated with secondary infertility.
UNASSIGNED: While several sociodemographic features and medical disorders have been associated to secondary infertility, it is vital to stress that not all of these factors are controllable by medical therapy. Factors like age and certain medical issues may be unaffected by intervention. However, for controllable variables like BMI and certain medical diseases, focused therapies and lifestyle changes may reduce the chance of subsequent infertility.

暂无摘要。

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disorder that presents clinically as a primary immunodeficiency. Clinical presentation of APDS includes severe, recurrent infections, lymphoproliferation, lymphoma, and other cancers, autoimmunity and enteropathy. Autosomal dominant variants in two independent genes have been demonstrated to cause APDS. Pathogenic variants in PIK3CD and PIK3R1, both of which encode components of the PI3-kinase, have been identified in subjects with APDS. APDS1 is caused by gain of function variants in the PIK3CD gene, while loss of function variants in PIK3R1 have been reported to cause APDS2. We conducted a review of the medical literature and identified 256 individuals who had a molecular diagnosis for APDS as well as age at last report; 193 individuals with APDS1 and 63 with APDS2. Despite available treatments, survival for individuals with APDS appears to be shortened from the average lifespan. A Kaplan-Meier survival analysis for APDS showed the conditional survival rate at the age of 20 years was 87%, age of 30 years was 74%, and ages of 40 and 50 years were 68%. Review of causes of death showed that the most common cause of death was lymphoma, followed by complications from HSCT. The overall mortality rate for HSCT in APDS1 and APDS2 cases was 15.6%, while the mortality rate for lymphoma was 47.6%. This survival and mortality data illustrate that new treatments are needed to mitigate the risk of death from lymphoma and other cancers as well as infection. These analyses based on real-world evidence gathered from the medical literature comprise the largest study of survival and mortality for APDS to date.

To assess the characteristics of patients with unilateral and bilateral tubo-ovarian abscess (TOA).
Women diagnosed with TOA during 2003-2017 were included in this retrospective cohort study. TOA was diagnosed using sonography or computerized tomography and clinical criteria, or by surgical diagnosis. Demographics, sonographic data, clinical treatment, surgical treatment, and post-operative information were retrieved.
The study cohort included 144 women who met the inclusion criteria, of whom 78 (54.2%) had unilateral TOA and 66 (45.8%) had bilateral TOA. Baseline characteristics were not different between the groups. There was a statistical trend that women with fewer events of previous PID were less likely to have with bilateral TOA (75.3% vs. 64.1%, respectively; p = 0.074). Women diagnosed with bilateral TOA were more likely to undergo surgical treratment for bilateral salpingo-oophorectomy compared to unilateral TOA (61.5% vs. 42.3%, respectively; p = 0.04). There was no difference in maximum TOA size between groups.
This study detected a trend toward increased need for surgical treatment in women diagnosed with bilateral TOA. These findings may contribute to determining the optimal medical or surgical treatment, potentially leading to a decrease in the duration of hospitalization, antibiotic exposure, and resistance. However, it is important to acknowledge that the results of the current study are limited, and further research is warranted to validate these potential outcomes.

The ant colony algorithm (ACA) is a heuristic algorithm that resolves the optimality problem by simulating an ant\'s foraging process, which finds the shortest path. The connotation of the ACA is to find the optimal solution. The Proportional Integral Derivative (PID) parameter tuning is an essential tool in the control field and includes three parameters, Kp, Ki, and Kd, to achieve the best control effect. Besides, tuning the PID parameters is closely related to finding the \"optimal\" solution that can be attained based on the feasible combination of the two. This article transforms the PID parameter tuning problem into an ACA that finds the optimal solution called ACA-based PID parameters tuning. Furthermore, PID control is simulated by setting the parameters of ACA, such as ant colony size, iteration times, nodes, paths, path evaluation criteria, pheromone concentration, heuristic function, weight factor, and decision function. Eventually, the two PID controller parameter tuning strategies are compared and analyzed, and the advantages and disadvantages of each are obtained. Compared with the 4:1 attenuation curve method, the proposed method can significantly reduce the MP score of the overshoot of the system, increase the time, and improve the dynamic and steady-state performance of the system, but reduce the steady-state error of the system. Therefore, the feasibility and effectiveness of the proposed method is verified.