Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disease caused by abnormal expression of glycosylphosphatidylinositol (GPI) on the cell membrane due to mutations in the phosphatidylinositol glycan class A(PIGA) gene. It is commonly characterized by intravascular hemolysis, repeated thrombosis, and bone marrow failure, as well as multiple systemic involvement symptoms such as renal dysfunction, pulmonary hypertension, swallowing difficulties, chest pain, abdominal pain, and erectile dysfunction. Due to the rarity of PNH and its strong heterogeneity in clinical manifestations, multidisciplinary collaboration is often required for diagnosis and treatment. Peking Union Medical College Hospital, relying on the rare disease diagnosis and treatment platform, has invited multidisciplinary clinical experts to form a unified opinion on the diagnosis and treatment of PNH, and formulated the Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria (2024), with the hope of promoting the standardization of PNH diagnosis and treatment.

The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.

Objective:In chronic hepatitis B (CHB) patients with previous 96-week treatment with tenofovir amibufenamide (TMF) or tenofovir disoproxil fumarate (TDF), we investigated the efficacy of sequential TMF treatment from 96 to 144 weeks.Methods:Enrolled subjects who were previously assigned (2:1) to receive either 25 mg TMF or 300 mg TDF with matching placebo for 96 weeks received extended or switched TMF treatment for 48 weeks. Efficacy was evaluated based on virological, serological, biological parameters, and fibrosis staging. Statistical analysis was performed using the McNemar test, t-test, or Log-Rank test according to the data. Results:593 subjects from the initial TMF group and 287 subjects from the TDF group were included at week 144, with the proportions of HBV DNA<20 IU/ml at week 144 being 86.2% and 83.3%, respectively, and 78.1% and 73.8% in patients with baseline HBV DNA levels ≥8 log10 IU/ml. Resistance to tenofovir was not detected in both groups. For HBeAg loss and seroconversion rates, both groups showed a further increase from week 96 to 144 and the 3-year cumulative rates of HBeAg loss were about 35% in each group. However, HBsAg levels were less affected during 96 to 144 weeks. For patients switched from TDF to TMF, a substantial further increase in the alanine aminotransferase (ALT) normalization rate was observed (11.4%), along with improved FIB-4 scores.Conclusion:After 144 weeks of TMF treatment, CHB patients achieved high rates of virological, serological, and biochemical responses, as well as improved liver fibrosis outcomes. Also, switching to TMF resulted in significant benefits in ALT normalization rates (NCT03903796).

Objective:In chronic hepatitis B (CHB) patients with previous 96-week treatment with tenofovir amibufenamide (TMF) or tenofovir disoproxil fumarate (TDF), we investigated the safety profile of sequential TMF treatment from 96 to 144 weeks.Methods:Enrolled subjects that previously assigned (2:1) to receive either 25 mg TMF or 300 mg TDF with matching placebo for 96 weeks received extending or switching TMF treatment for 48 weeks. Safety profiles of kidney, bone, metabolism, body weight, and others were evaluated.Results:666 subjects from the initial TMF group and 336 subjects from TDF group with at least one dose of assigned treatment were included at week 144. The overall safety profile was favorable in each group and generally similar between extended or switched TMF treatments from week 96 to 144. In subjects switching from TDF to TMF, the non-indexed estimated glomerular filtration rate (by non-indexed CKD-EPI formula) and creatinine clearance (by Cockcroft-Gault formula) were both increased, which were (2.31±8.33) ml/min and (4.24±13.94) ml/min, respectively. These changes were also higher than those in subjects with extending TMF treatment [(0.91±8.06) ml/min and (1.30±13.94) ml/min]. Meanwhile, switching to TMF also led to an increase of the bone mineral density (BMD) by 0.75% in hip and 1.41% in spine. On the other side, a slight change in TC/HDL ratio by 0.16 (IQR: 0.00, 0.43) and an increase in body mass index (BMI) by (0.54±0.98) kg/m 2 were oberved with patients switched to TMF, which were significantly higher than that in TMF group. Conclusion:CHB patients receiving 144 weeks of TMF treatment showed favorable safety profile. After switching to TMF, the bone and renal safety was significantly improved in TDF group, though experienceing change in metabolic parameters and weight gain (NCT03903796).

Objective:To explore the dynamics and directionality between perceived discrimination and inter-group trust in migrant children.Methods:Totally 69 migrant children from a primary school in Fuzhou were select-ed and followed up for two years.The Questionnaire on Perceived Discrimination among Migrant Children and the trust game task were used to measure migrant children's perceived discrimination and intergroup trust,respective-ly.Statistical analysis of the results was conducted using correlation analysis,cross-lagged regression analysis,and repeated measures ANOVA.Results:There was a significant decrease in perceived discrimination after 2 years(P＜0.05).From the cross-sectional data,the perceived discrimination negatively predicts the in-group and out-group trust in the same period(P＜0.05).However,in the longitudinal view,the predictive effect of pretest perceived dis-crimination on in-group trust selection rate within post-test is not significant(P＞0.05).There was no significant difference between in-group trust and out-group trust in the pre-test(P＞0.05).Conclusion:Change over time,the level of perceived discrimination in migrant children may decrease.Although the statistical results are not signifi-cant,there is still a potential negative predictive trend of perceived discrimination on in-group trust,and the migrant children may gradually shift to ingroup trust.

Objective To explore the correlation among P16INK4a expression,human papilloma virus(HPV)infection,and cervical intraepithelial neoplasia(CIN).Methods A total of 197 patients with CIN who visited our hospital between February 2020 and May 2023 were selected,including 62 with CIN1,89 with CIN2,and 46 with CIN3.At the same time,50 patients who underwent total hyste-rectomy and had normal cervical tissue confirmed by postoperative pathology were selected as the control group.P16INK4a expression and HPV infection were detected in each patient.Results The positive P16INK4a expression and HPV infection rates of the control group were 10.00% and 0.00%,respectively,significantly lower than those of patients with CIN(72.08% and 45.69%,respectively)(P<0.05).The positive P16INK4a expression rates of patients with CIN2 and CIN3 were 80.90% and 91.30%,respectively,significantly higher than that of patients with CIN1(45.16% )(P<0.05).The HPV infection rate among patients with CIN3 was 63.04%,significantly higher than those of patients with CIN1(33.87% )and CIN2(44.94% )(P<0.05).The positive P16INK4a expression rate of patients with CIN and HPV infec-tion was 93.33%,significantly higher than that of patients with CIN but without HPV infection(54.21% )(P<0.05).The positive P16INK4a expression rate of patients with HPV16/18 infection was 100.00%,significantly higher than that of patients with HPV31/33/53 infection(85.00% )(P<0.05).There was no statistically significant difference in the positive P16INK4a expression rate among patients with CIN by clinical characteristics such as age and body mass index(P>0.05).Conclusion The P16INK4a expression rate among patients with CIN is significantly increased and correlated with lesion degree and HPV infection status.

Objective:To investigate the clinical features of pregnant associated Takotsubo cardiomyopathy (PTCM).Methods:We reviewed reported PTCM cases published from January 2007 to June 2022 using the keywords "Tako-tsubo cardiomyopathy""Takotsubo cardiomyopathy" "stress cardiomyopathy" AND "parturition" "pregnancy" "cesarean delivery" "postpartum" "peripartum" "eclampsia" "abortion" in Pubmed and Web of Science databases and the corresponding Chinese words in Wanfang and Chinese Medical Journal Network. Age, obstetric history, mode of delivery, mode of anesthesia, etiological factors, clinical manifestations, treatment, and prognosis of PTCM were recorded. Descriptive statistical analysis was adopted.Results:A total of 55 articles were included, covering 60 patients with PTCM. (1) Age and time of onset: The age of onset was (32.4±6.0) years old. PTCM occurred most frequently during labor [42% (25/60)] and within one day postpartum [32% (19/60)] and during the gestational period [13%(8/60), 33.0 weeks (24.5-37.7 weeks)]. (2) Delivery-related factors: There were 38% (16/42) primiparas and 60% (25/42) multiparas. Among them, 67% (38/57) and 18% (10/57) were delivered by cesarean section and vaginal delivery, respectively. PCTM often lacks obvious triggers [40% (24/60)], with the most common inducing factor being pregnancy-related diseases [27% (16/60)]. (3) Clinical features: The initial symptoms of PTCM were dyspnea [44% (26/59)], followed by chest pain accompanied by dyspnea [17% (10/59)]. The most common subtype of PTCM was the apical type [45% (26/58)], followed by the basal type [24% (14/58)], while the biventricular type was the least common [3% (2/58)] in the PTCM classification. The left ventricular ejection fraction was (31.6±12.1) % at the onset of PTCM, which recovered to (58.2±7.6) % at discharge. PCTM was often complicated by pulmonary edema [67% (40/60)] and cardiogenic shock [55% (33/60)]. (4) Treatment and prognosis: Patients with PCTM usually require noninvasive or invasive ventilator-assisted ventilation [40% (23/58)]. One pregnant woman and five neonates died, while the remaining patients recovered well.Conclusions:PTCM should be considered in differential diagnosis of patients experiencing dyspnea and chest pain during labor and pregnancy. PTCM patients are younger and have more pulmonary edema and cardiogenic shock. Mechanical ventilation is often required, but the prognosis is favorable.

Objective:To explore the clinical features of Mycoplasma pneumoniae(MP)infection in children, and provide data support for the prevention and control of MP.Methods:In this study , a retrospective analysis was used to collect clinical data with respiratory tract infection from January 2018 to February 2022 in the Shenyang Children′s Hospital, and analyze the distribution characteristics of MP positive rate, season, age, sex.Results:In this study, the positive rate of MP was 17.12% (20 299/118 598), in 2018, 2019, 2020 and 2021 were 22.92% (7 732/33 738), 15.76% (5 736/36 388), 9.81% (1 313/13 379) and 16.60% (4 954/29 849) respectively.The highest positive rates of MP in 2018 and 2019 were 27.72% (1 809/6 527) and 23.45% (1 519/6 478) in summer, respectively, 2020 was spring (19.13%, 216/1 129) and 2021 was autumn (20.09%, 1 665/8 287).The MP positive rates of infancy, early childhood, preschool age and school age were 5.89% (605/10 265), 14.35% (4 639/32 333), 18.51% (10 961/59 203) and 24.37% (4 094/16 798), and MP positive rate increased with age, the difference was statistically significant ( χ2=1 790.971, P<0.05).The positive rate of boys was 14.70% (9 586/65 206), while that of girls was 20.06% (10 713/53 392), the difference was statistically significant ( χ2=594.937, P<0.05). Conclusion:MP can occur all years round, mainly in summer and autumn.Girls are susceptible, especially common in school-age and pre-school children.Prevention and control measures should be taken as soon as possible for susceptible individuals to reduce the infection rate of MP.

Objective:To investigate the familial inheritances, clinical features, treatments and outcomes of familial Waldenstrom macroglobulinemia (WM) patients.Methods:The clinical manifestations, laboratory examinations, diagnosis and treatments, and follow-up data of 6 familial WM patients who were admitted to Yancheng No.1 People's Hospital from June 2002 to July 2019 were retrospectively analyzed, and the literature was reviewed.Results:Among 6 WM patients, 4 patients had dizziness and fatigue at the onset, 1 patient had recurrent low-grade fever and abnormal sweating as the first manifestations, 1 patient was hospitalized due to pulmonary infection, and WM was found later. Two brothers of the patients were diagnosed with WM, another 2 brothers of the patients had IgM-type monoclonal gammopathy of undetermined significance (MGUS) during the physical examination. All the 6 patients were middle-aged/elderly men, with a median age of 63 years old (51-70 years old). The median follow-up time were 71.5 months (4-217 months), and by the end of the follow-up (June 2020), 2 cases died of pulmonary infection, and 1 of them developed acute myeloid leukemia; the other 4 cases were in regular chemotherapy. Two IgM-MGUS patients were followed up without symptoms.Conclusions:WM patients have familial aggregation, and their clinical manifestations are highly heterogeneous. Patients with family history may have poor prognosis. It is necessary to strengthen the awareness of WM and family history screening.

Objective:To retrieve and summarize evidence for prevention of hypothermia at birth in newborn.Methods:Databases such as Up To Date, BMJ Best Practice, National Institute for Health and Care Excellence(NICE), Joanna Briggs Institute (JBI), Cochrane Library, Registered Nurses′Association of Ontario (RNAO), American Heart Association(AHA), Web of Science, PubMed, Chinese Biology Medical Literature database, Wanfang Med Online were searched to collect relevant evidence for prevention of hypothermia at birth in newborn, including guidelines, systematic reviews, evidence summaries and expert consensus. Two researchers independently evaluated the quality of the literature and extracted the data of the literature which met the criteria.Results:Six articles were selected, including 1 clinical decision support system, 2 guidelines, 1 systematic review and 2 expert consensuses. Nineteen pieces of best evidence were summarized.Conclusions:This study summarized the best evidence for the prevention of hypothermia at birth in newborn, and provided evidence-based support for clinical practice.