Repeated pregnancy losses with multiple aneuploidies and major genomic imbalance:A case report

Rationale:If one of the partners is having balanced autosomal translocation,it is usually observed that the offspring inherit either normal chromosomes,balanced translocation identical to one of the parent or unbalanced chromosomal rearrangements of the same parental chromosome having translocation.Concern:A unique case presented with history of 8 miscarriages for genetic counseling.The last abortus material evaluation showed monosomy of chromosome X(Turner syndrome)in all the analyzed cells.There was a history of infertility and also repeated second trimester abortions on the paternal side.On the maternal side,there was a history of intellectual disability.Diagnose:History of repeated abnormal pregnancy outcomes.Wife’s karyotype is normal;however,husband shows translocation between chromosome 4 and 22.Intervention:Peripheral blood sample around 3 mL was collected for karyotype.Embryo biopsy was done and DNA was extracted and processed for whole exome sequencing.Outcomes:Wife’s karyotype is normal and husband has translocation between chromosome 4 and 22.Surprisingly,the entire pregnancy outcome including embryo screening has different,complete or partial aneuploidies of chromosomes other than chromosome 4 and 22.Main lesson:Though the translocation in one of the parent is balanced,we have to think beyond traditional ways for evaluating a couple with repeated pregnancy loss as we cannot predict the errors at cell division.Option of in vitro fertilization and preimplantation genetic diagnosis in couples having balanced translocations should be discussed so that early intervention can prevent the agony of pregnancy loss.

基于Focal Loss改进LightGBM的供水管网毛刺数据检测

针对数据不平衡导致的管网毛刺数据检测召回率偏低问题,提出一种Focal Loss改进LightGBM的管网毛刺数据检测方法。首先,结合管网毛刺数据的特点,针对性构造邻域相关特征。其次,将Focal Loss函数引入LightGBM,提高模型对难以检测的毛刺样本的权重,并对Focal Loss不同的参数取值进行实验,以平衡精确率与召回率。最后,选择不同参数的Focal Loss进行模型融合,进一步提升模型对不平衡毛刺数据的检测性能。在某市供水管网的真实数据上进行实验,结果表明,对比基于交叉熵损失函数的单一模型,本文提出的Focal Loss改进后的融合模型在毛刺数据上召回率和F1值的提升幅度达33.3和18个百分点,但毛刺数据的精确率还有待进一步提升。本文所提方法从损失函数入手,动态调整难易样本的权重,有效地提升了不平衡数据下的毛刺数据的检测性能。

Serum anti-leukemia inhibitory factor antibody and recurrent pregnancy loss in Iranian women

Recurrent pregnancy loss is defined by the World Health Orgnization as the loss of three or more consecutive pregnancies before the 20th week[1].According to studies,the prevalence of this disorder in Europe and America is between 1%and 4%for women of reproductive age.Various etiologies including uterine factors,thrombophilia,endocrine,physiological,genetic,and immunological factors are considered risk factors for recurrent pregnancy loss.

A crosstalk-free dual-mode sweat sensing system for naked-eye sweat loss quantification via changes in structural reflectance

Sweat loss monitoring is important for understanding the body’s thermoregulation and hydration status,as well as for comprehensive sweat analysis.Despite recent advances,developing a low-cost,scalable,and universal method for the fabrication of colorimetric microfluidics designed for sweat loss monitoring remains challenging.In this study,we propose a novel laserengraved surface roughening strategy for various flexible substrates.This process permits the construction of microchannels that show distinct structural reflectance changes before and after sweat filling.By leveraging these unique optical properties,we have developed a fully laser-engraved microfluidic device for the quantification of naked-eye sweat loss.This sweat loss sensor is capable of a volume resolution of 0.5µL and a total volume capacity of 11µL,and can be customized to meet different performance requirements.Moreover,we report the development of a crosstalk-free dual-mode sweat microfluidic system that integrates an Ag/AgCl chloride sensor and a matching wireless measurement flexible printed circuit board.This integrated system enables the real-time monitoring of colorimetric sweat loss signals and potential ion concentration signals without crosstalk.Finally,we demonstrate the potential practical use of this microfluidic sweat loss sensor and its integrated system for sports medicine via on-body studies.

Genetically modified pigs:Emerging animal models for hereditary hearing loss

Hereditary hearing loss(HHL),a genetic disorder that impairs auditory function,significantly affects quality of life and incurs substantial economic losses for society.To investigate the underlying causes of HHL and evaluate therapeutic outcomes,appropriate animal models are necessary.Pigs have been extensively used as valuable large animal models in biomedical research.In this review,we highlight the advantages of pig models in terms of ear anatomy,inner ear morphology,and electrophysiological characteristics,as well as recent advancements in the development of distinct genetically modified porcine models of hearing loss.Additionally,we discuss the prospects,challenges,and recommendations regarding the use pig models in HHL research.Overall,this review provides insights and perspectives for future studies on HHL using porcine models.

Effect of foot reflexology on an infant with sensorineural hearing loss:A case report

BACKGROUND Our study contributes to the further understanding of the mechanism of foot reflexology.Foot reflexology has been reported to affect hearing recovery,but no physiological evidence has been provided.This lack of evidence hampers the acceptance of the technique in clinical practice.CASE SUMMARY A girl was taken to North Sichuan Medical University Affiliated Hospital for a hearing screen by her parents.Her parents reported that her hearing level was the same as when she was born.The girl was diagnosed with sensorineural hearing loss(SNHL)by a doctor in the otolaryngology department.After we introduced the foot reflexology project,the parents agreed to participate in the experiment.After 6 months of foot reflexology treatment,the hearing threshold of the girl recovered to a normal level,below 30 dB.CONCLUSION Foot reflexology should be encouraged in clinical practice and for families of infants with SNHL.

Relative Impacts of Sea Ice Loss and Atmospheric Internal Variability on the Winter Arctic to East Asian Surface Air Temperature Based on Large-Ensemble Simulations with NorESM2

To quantify the relative contributions of Arctic sea ice and unforced atmospheric internal variability to the “warm Arctic, cold East Asia”(WACE) teleconnection, this study analyses three sets of large-ensemble simulations carried out by the Norwegian Earth System Model with a coupled atmosphere–land surface model, forced by seasonal sea ice conditions from preindustrial, present-day, and future periods. Each ensemble member within the same set uses the same forcing but with small perturbations to the atmospheric initial state. Hence, the difference between the present-day(or future) ensemble mean and the preindustrial ensemble mean provides the ice-loss-induced response, while the difference of the individual members within the present-day(or future) set is the effect of atmospheric internal variability. Results indicate that both present-day and future sea ice loss can force a negative phase of the Arctic Oscillation with a WACE pattern in winter. The magnitude of ice-induced Arctic warming is over four(ten) times larger than the ice-induced East Asian cooling in the present-day(future) experiment;the latter having a magnitude that is about 30% of the observed cooling. Sea ice loss contributes about 60%(80%) to the Arctic winter warming in the present-day(future) experiment. Atmospheric internal variability can also induce a WACE pattern with comparable magnitudes between the Arctic and East Asia. Ice-lossinduced East Asian cooling can easily be masked by atmospheric internal variability effects because random atmospheric internal variability may induce a larger magnitude warming. The observed WACE pattern occurs as a result of both Arctic sea ice loss and atmospheric internal variability, with the former dominating Arctic warming and the latter dominating East Asian cooling.

Analysis of Perinatal Outcomes of Twin Pregnancy in a Referral Hospital for High Risk

Introduction: The incidence of twin pregnancies has increased significantly in recent decades. These pregnancies require more attention due to their worse outcomes than singleton pregnancies. Objective: To analyze the characteristics and perinatal outcomes of twin pregnancies at the Caxias do Sul General Hospital. Methods: This is a descriptive and retrospective study that included all births related to twin pregnancies between March 1998 and June 2018. Maternal and perinatal variables were analyzed. Descriptive analyses were carried out using measures of central tendency and dispersion for continuous variables (mean and standard deviation or median and interquartile range), according to a prior assessment of distribution using the Shapiro-Wilk test, and absolute (n) and relative (n%) frequencies for categorical variables. Results: 172 pairs of twins/21,972 births (0.8%) were identified. There was a high percentage of interpartum interval of less than 12 months, adherence and prenatal visits, body mass index, and need for neonatal intensive care. Stillbirth and neomortality rates were within acceptable parameters. Conclusion: The sample studied showed a percentage similar to that in the literature, a high rate of maternal and perinatal complications, characterizing it as a high-risk fetal pregnancy.

Emergency department management of acute agitation in the reproductive age female and pregnancy

BACKGROUND:Agitation is a common presentation within emergent departments(EDs).Agitation during pregnancy should be treated as an obstetric emergency,as the distress may jeopardize both the patient and fetus.The safety of psychotropic medications in the reproductive age female has not been well established.This review aimed to explore a summary of general agitation recommendations with an emphasis on ED management of agitation during pregnancy.METHODS:A literature review was conducted to explore the pathophysiology of acute agitation and devise a preferred treatment plan for ED management of acute agitation in the reproductive age or pregnant female.RESULTS:While nonpharmacological management is preferred,ED visits for agitation often require medical management.Medication should be selected based on the etiology of agitation and the clinical setting to avoid major adverse effects.Adverse effects are common in pregnant females.For mild to moderate agitation in pregnancy,diphenhydramine is an effective sedating agent with minimal adverse effects.In moderate to severe agitation,high-potency typical psychotropics are preferred due to their neutral effects on hemodynamics.Haloperidol has become the most frequently utilized psychotropic for agitation during pregnancy.Second generation psychotropics are often utilized as second-line therapy,including risperidone.Benzodiazepines and ketamine have demonstrated adverse fetal outcomes.CONCLUSION:While randomized control studies cannot be ethically conducted on pregnant patients requiring sedation,animal models and epidemiologic studies have demonstrated the effects of psychotropic medication exposure in utero.As the fetal risk associated with multiple doses of psychotropic medications remains unknown,weighing the risks and benefits of each agent,while utilizing the lowest effective dose remains critical in the treatment of acute agitation within the EDs.

A pregnant patient with type II osteogenesis imperfecta pregnancy

Osteogenesis imperfecta(OI)is a primary bone fragility disorder with an estimated prevalence of 1/15,000 births and is a hereditary syndrome characterized by one or more of the following:fractures,blue sclerae,impaired hearing,defective dentition,and hyperlaxibility throughout life.[1,2]We report a pregnant woman with type II OI and review her prenatal counseling,diagnosis,and pregnancy management to assist obstetricians in understanding the disease and managing it in emergency situations.

Correlates of Mistimed Pregnancy and Unmet Need for Family Planning among Women of Reproductive Age in Sandema, Ghana

Background: Globally, an estimated 80 million unintended pregnancies comprising both mistimed and unwanted pregnancies are recorded yearly. Yet only half of the women at risk of mistimed pregnancy use contraceptives. In developing countries, over 100 million females have unmet need, and national surveys in Ghana indicate 23% unmet need rate. Methods: Using a cross-sectional community-based approach, a sample size of 300 women of reproductive age were selected using multi-step cluster sampling techniques. The study was quantitative, using structured interviewer-administered questionnaires. Results: Two-third (66%) of the women in reproductive age still had unmet need, 71% were currently pregnant, and more than a third (36%) confirmed ever having a mistimed pregnancy. Fifty-three percent (53%) of the women confirmed never communicating with their partners on family planning issues, a little below half (45%) took their own health care decisions. Seventy nine percent (79%) ever received family planning services from a health professional. Factors related to unmet needs included mistimed pregnancy, level of education, preferred birth/pregnancy interval, communication between partners and the autonomy to spend self-earnings. Conclusion: Considering that high rates of unmet need results in mistimed pregnancy, improved policies around the influence of unmet need on mistimed pregnancies are needed.

Iron supplementation during malaria infection in pregnancy and childhood:A review

Malaria presents a significant global public health challenge,with severe malarial anaemia being a primary manifestation of the disease.The understanding of anaemia caused by malaria remains incomplete,making the treatment more complex.Iron is a crucial micronutrient essential for haemoglobin synthesis,oxygen delivery,and other vital metabolic functions in the body.It is indispensable for the growth of human beings,as well as bacteria,protozoa,and viruses in vitro and in vivo.Iron deficiency is among the most common nutritional deficiencies and can have detrimental effects during developmental stages of life.Malaria-induced iron deficiency occurs due to the hemolysis of erythrocytes and the suppression of erythropoiesis,leading to anaemia.Meeting iron requirements is particularly critical during pivotal life stages such as pregnancy,infancy,and childhood.Dietary intake alone may not suffice to meet adequate iron requirements,thus highlighting the vital role of iron supplementation.While iron supplementation can alleviate iron deficiency,it can exacerbate malaria infection by providing additional iron for the parasites.However,in the context of pregnancy and childhood,iron supplementation combined with malaria prevention and treatment has been shown to be beneficial in improving birth outcomes and ensuring proper growth and development,respectively.This review aims to identify the role and impact of iron supplementation in malaria infection during the life stages of pregnancy and childhood.

Automated Actuarial Data Analytics-Based Inflation Adjusted Frequency Severity Loss Reserving Model

In this paper, the Automated Actuarial Loss Reserving Model is developed and extended using machine learning. The traditional actuarial reserving techniques are no longer compatible with the increase in technological advancement currently at hand. As a result, the development of the alternative Artificial Intelligence Based Automated Actuarial Loss Reserving Methodology which captures diverse risk profiles for various policyholders through augmenting the Micro Finance services, Auto Insurance Services and Both Services lines of business on the same platform through the computation of the Comprehensive Automated Actuarial Loss Reserves (CAALR) has been implemented in this paper. The introduction of the four further types of actuarial loss reserves to those existing in the actuarial literature seems to significantly reduce lapse rates, reduce the reinsurance costs as well as expenses and outgo. As a matter of consequence, this helps to bring together a combination of new and existing policyholders in the insurance company. The frequency severity models have been extended in this paper using ten machine learning algorithms which ultimately leads to the derivation of the proposed machine learning-based actuarial loss reserving model which remarkably performed well when compared to the traditional chain ladder actuarial reserving method using simulated data.

Hemoglobin loss method calculates blood loss during pancreaticoduodenectomy and predicts bleeding-related risk factors

BACKGROUND The common clinical method to evaluate blood loss during pancreaticoduoden-ectomy(PD)is visual inspection,but most scholars believe that this method is extremely subjective and inaccurate.Currently,there is no accurate,objective me-thod to evaluate the amount of blood loss in PD patients.We retrospectively analyzed the clinical data of 341 patients who underwent PD in Shandong Provincial Hospital from March 2017 to February 2019.According to different surgical methods,they were divided into an open PD(OPD)group and a laparoscopic PD(LPD)group.The differences and correlations between the in-traoperative estimation of blood loss(IEBL)obtained by visual inspection and the intraoperative calculation of blood loss(ICBL)obtained using the Hb loss method were analyzed.ICBL,IEBL and perioperative calculation of blood loss(PCBL)were compared between the two groups,and single-factor regression analysis was performed.RESULTS There was no statistically significant difference in the preoperative general patient information between the two groups(P>0.05).PD had an ICBL of 743.2(393.0,1173.1)mL and an IEBL of 100.0(50.0,300.0)mL(P<0.001).There was also a certain correlation between the two(r=0.312,P<0.001).Single-factor analysis of ICBL showed that a history of diabetes[95%confidence interval(CI):53.82-549.62;P=0.017]was an independent risk factor for ICBL.In addition,the single-factor analysis of PCBL showed that body mass index(BMI)(95%CI:0.62-76.75;P=0.046)and preoperative total bilirubin>200μmol/L(95%CI:7.09-644.26;P=0.045)were independent risk factors for PCBL.The ICBLs of the LPD group and OPD group were 767.7(435.4,1249.0)mL and 663.8(347.7,1138.2)mL,respectively(P>0.05).The IEBL of the LPD group 200.0(50.0,200.0)mL was slightly greater than that of the OPD group 100.0(50.0,300.0)mL(P>0.05).PCBL was greater in the LPD group than the OPD group[1061.6(612.3,1632.3)mL vs 806.1(375.9,1347.6)mL](P<0.05).CONCLUSION The ICBL in patients who underwent PD was greater than the IEBL,but there is a certain correlation between the two.The Hb loss method can be used to evaluate intraoperative blood loss.A history of diabetes,preoperative bilirubin>200μmol/L and high BMI increase the patient's risk of bleeding.

Integrins and their potential roles in mammalian pregnancy

Integrins are a highly complex family of receptors that, when expressed on the surface of cells, can mediate reciprocal cell-to-cell and cell-to-extracellular matrix(ECM) interactions leading to assembly of integrin adhesion complexes(IACs) that initiate many signaling functions both at the membrane and deeper within the cytoplasm to coordinate processes including cell adhesion, migration, proliferation, survival, differentiation, and metabolism. All metazoan organisms possess integrins, and it is generally agreed that integrins were associated with the evolution of multicellularity, being essential for the association of cells with their neighbors and surroundings, during embryonic development and many aspects of cellular and molecular biology. Integrins have important roles in many aspects of embryonic development, normal physiology, and disease processes with a multitude of functions discovered and elucidated for integrins that directly influence many areas of biology and medicine, including mammalian pregnancy, in particular implantation of the blastocyst to the uterine wall, subsequent placentation and conceptus(embryo/fetus and associated placental membranes) development. This review provides a succinct overview of integrin structure, ligand binding, and signaling followed with a concise overview of embryonic development, implantation, and early placentation in pigs, sheep, humans, and mice as an example for rodents. A brief timeline of the initial localization of integrin subunits to the uterine luminal epithelium(LE) and conceptus trophoblast is then presented, followed by sequential summaries of integrin expression and function during gestation in pigs, sheep, humans, and rodents. As appropriate for this journal, summaries of integrin expression and function during gestation in pigs and sheep are in depth, whereas summaries for humans and rodents are brief. Because similar models to those illustrated in Fig. 1, 2, 3, 4, 5 and 6 are present throughout the scientific literature, the illustrations in this manuscript are drafted as Viking imagery for entertainment purposes.

Assessment of Cardiovascular Risk Factors During Pregnancy: A Multicenter Study in West Africa, Dakar, Senegal

Context: Non-communicable diseases, including hypertension, are major causes of complications during pregnancy, posing significant risks to maternal and fetal health. Pregnancy increases cardiovascular risks, particularly through the development of gestational hypertension and preeclampsia, requiring early screening and close monitoring to prevent adverse outcomes. Objectives: This study aimed to evaluate the frequency of cardiovascular risk factors in pregnant women in Senegal and identify associated socio-behavioral and economic determinants. Methodology: A descriptive, analytical cross-sectional study with prospective data collection was conducted over three months (April 10 to July 10, 2023). The study included pregnant women aged 15 and older from three public hospital maternity wards in Senegal. We studied sociodemographic aspects, cardiovascular risk factors, and collected information on previous and current pregnancies, including the number of pregnancies, parity, miscarriages, the number of prenatal consultations, and the number of fetuses. Written consent was obtained. A p-value ≤ 0.05 was considered statistically significant. Results: A total of 222 pregnant women were enrolled, representing 28% of prenatal consultations. The average age was 29.18 years (range 15 - 47). Most participants (90%) lived in Dakar suburbs, 74.20% had no medical coverage, 84% worked in the informal sector (p = 0.043), and 18% had no education. Among them, 30.63% were in their first pregnancy, 34% were nulliparous, and 3.15% were grand multiparous. The average number of prenatal visits was 3.5, with about 40% having more than four visits. Risk factors included hypertension (17%), more prevalent in women over 30 (p = 0.043), diabetes (4%), and smoking (2%). Conclusion: The study highlights critical prenatal health needs and socio-economic challenges faced by pregnant women, emphasizing the need for targeted strategies to improve healthcare access and health education.

A live birth resulting from a fourth cesarean scar pregnancy after combined hysteroscopic and laparoscopic uterine repair: A case report and literature review

Cesarean scar pregnancy(CSP)is a rare form of ectopic pregnancy that is defined as a pregnancy sac located within the scar of a previous cesarean section.Recurrent cesarean scar pregnancy(RCSP)is even more uncommon,1 with Hasegawa et al reporting the first RCSP in 2005.2 RCSP is a high-risk pregnancy condition with potential complications that include heavy bleeding,uterine rupture,and maternal shock.The exact incidence rates for CSP and RCSP are unknown,although the incidence of CSP is 1/2656–1/1800 of the total number of cesarean sections,and the incidence of RCSP can reach 6.9%–34.3%.3,4,5 With the promulgation of the second and third child policies in China,an increasing number of patients now manifest fertility needs after cesarean section.With improvements in examination methods and awareness of CSP,we also suspect that the rates of CSP and RCSP may be even higher.Unfortunately,there is no standard treatment for CSP.We herein report a case in which the patient was treated by combined hysteroscopic and laparoscopic uterine repair without scar resection during the third RCSP,and the fourth RCSP occurred 6 months later;the patient then selected expectant management.The outcome was a successful cesarean section delivery of a live baby at 34 weeks of gestation,and the uterus was successfully preserved.Placental pathology was examined after delivery and revealed that the chorionic villi penetrated deeply into the myometrium.

Case of Refractory Thrombocytopenia in Pregnancy Associated with May-Heglin Anomaly after Repeated Platelet Transfusions

May-Heglin Anomaly is an autosomal dominant disorder characterized by macrothrombocytopenia with a platelet function that is usually preserved. Platelets play an essential role in hemostasis. During pregnancy, a woman is susceptible to complications, including postpartum hemorrhage. Monitoring patients’ hemostatic functions and observing the patient’s clinical picture to maintain patient safety is paramount, while avoiding unnecessary therapeutic measures. This case report presents a rare instance of May-Heglin Anomaly (MHA) in a 35-year-old pregnant patient, with refractory thrombocytopenia despite receiving multiple platelet transfusions. Initially referred to as gravida 5 para 4 with severe thrombocytopenia at 28 weeks gestation, throughout her pregnancy, she was closely monitored and received over 40 units of platelets, which failed to increase her platelet count significantly. She delivered a healthy baby via vaginal delivery at 38 weeks, with her platelet count still critically low. This report highlights the challenges of managing MHA in pregnancy, the inefficacy of standard thrombocytopenia treatments such as platelet transfusion in MHA patients, and the importance of tailored management strategies to ensure maternal and fetal safety.

Evaluating foot reflexology as a proposed treatment for sensorineural hearing loss:A critical review

This editorial critically evaluates the application of foot reflexology as a treatment for sensorineural hearing loss(SNHL)in infants,as proposed in a case report published in the World of Clinical Cases.SNHL is a condition characterized by damage to the cochlea or the neural pathways that transmit auditory information to the brain.The etiology of SNHL is often complex,involving genetic mutations,prenatal factors,or perinatal insults.Reflexology,an alternative therapy involving the application of pressure to specific points on the feet,is based on the hypothesis that these points correspond to different organs and systems in the body,including the auditory system.However,the biological plausibility and clinical efficacy of foot reflexology in addressing SNHL lack empirical support.This editorial examines the pathophysiology of SNHL,assesses the clinical claims of reflexology practitioners,and emphasizes the necessity of evidence-based approaches in treating infant hearing loss.While complementary therapies may provide ancillary benefits,they should not supplant validated medical treatments in managing SNHL in infants.Further research is needed to evaluate the safety and efficacy of foot reflexology and other alternative therapies in pediatric audiology.

Numerical study of alpha particle loss with toroidal field ripple based on CFETR steady-state scenario

Effects of plasma equilibrium parameters on the alpha particle loss with the toroidal field ripple based on the CFETR steady-state scenario have been numerically investigated by the orbit-following code GYCAVA. It is found that alpha particle losses decrease and loss regions become narrower with the plasma current increasing or with the magnetic field decreasing. It is because the ripple stochastic transport and the ripple well loss of alpha particle are reduced with the safety factor decreasing. Decrease of the plasma density and temperature can reduce alpha particle losses due to enhancement of the slowing-down effect. The direction of the toroidal magnetic field can significantly affect heat loads induced by lost alpha particle. The vertical asymmetry of heat loads induced by the clockwise and counter-clockwise toroidal magnetic fields are due to the fact that the ripple distribution is asymmetric about the mid-plane, which can be explained by the typical orbits of alpha particle. The maximal heat load of alpha particle for the clockwise toroidal magnetic field is much smaller than that for the counter-clockwise one.