This article reported a case of a newborn with congenital absence of the penis. The prenatal examinations were unremarkable. Physical examination of the newborn revealed abnormal external genitalia, with well-developed scrotum and fully descended testicle in normal size, but without the penis. Postnatal ultrasound showed no obvious signals of uterus and ovaries in pelvis and had normal bilateral testicles and urinary system. The diagnosis was congenital absence of the penis.

Mass spectrometry(MS)is one of the core technology in the field of clinical laboratory,which has a series of advantages include high sensitivity,high specificity,and the simultaneous analysis of multi-components.It shows great potential in metabolite detection,proteomic analysis,etc.,which can provide new pathways for early diagnosis and personalized treatment of complex diseases.In recent years,the research of MS technique appears rapid development trend in the field of clinical laboratory.This paper systematically combed the application status and research progress of MS techniques in clinical laboratory,which include mass spectrometry imaging(MSI),matrix-assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOF MS),inductively coupled plasma mass spectrometry(ICP-MS),cytometry by time-of-flight(CyTOF),and liquid chromatography-tandem mass spectrometry(LC-MS/MS).It focused on their practical applications in disease diagnosis,efficacy assessment,and prognosis judgment,and it anatomized the faced bottlenecks and problems of current technique.Based on the frontline technological trends,it explore the innovative directions of integrating MS technique with emerging bioinformatics,microfluidics,etc.,so as to provide theoretical basis and practical reference for promoting the standardized and intelligent development of MS technique in clinical laboratory,and help its wide application in clinical diagnosis and treatment.

This paper reported a type 1 diabetes patient who had severe diabetic nephropathy, retinopathy, hypertension, and hypothyroidism before pregnancy. The patient's blood glucose control was poor before pregnancy, and the complications were not properly treated. This was an unintended pregnancy, with a pre-pregnancy glycated hemoglobin A1c of 7.8% and early pregnancy urine protein of 3.81-4.53 g/24 h. Considering the patient's poor blood glucose control before pregnancy and the lack of proper treatment for multiple complications including nephropathy, a multidisciplinary consultation at an external hospital recommended termination of the pregnancy. However, the patient was determined to continue the pregnancy and was referred to Peking University First Hospital. Through strict blood glucose control, monitoring and evaluation of complications, and comprehensive management, the patient's blood glucose and blood pressure were well controlled during pregnancy. Regular monitoring of urine protein, renal function, and ocular fundus was conducted. At 31 weeks and 4 days of gestation, the patient's 24-hour urine protein significantly increased. After promoting fetal lung maturity, a cesarean section was performed at 34 weeks and 1 day of gestation, resulting in a successful delivery with good maternal and neonatal outcomes. At the 42-day postpartum follow-up, the patient's blood glucose and blood pressure were stable, urine protein returned to pre-pregnancy levels, and the infant was in good general condition.

Objective:To explore the surgical efficacy of cervical cerclage with cervical length (CL) <10 mm and emergency cerclage.Methods:From January 2013 to June 2022, a total of 98 singleton pregnant women who underwent ultrasound-indicated cervical cerclage because of CL<10 mm in the second trimester and underwent emergency cervical cerclage because of cervical dilation found by physical examination in Peking University First Hospital were enrolled. The differences in clinical data between the <34 weeks delivery group (25 cases) and the ≥34 weeks delivery group (73 cases) were compared. Meanwhile, according to different cervical status, they were divided into CL<10 mm group (43 cases) and cervical dilatation group (55 cases), and the cervical dilatation group was further divided into cervical dilatation <4 cm group and cervical dilatation ≥4 cm group. The clinical data and pregnancy outcomes of pregnant women with different cervical status were compared.Results:(1) There were significant differences in the proportion of preoperative CL<10 mm and the degree of preoperative cervical dilation between the <34 weeks delivery group and the ≥34 weeks delivery group (all P<0.05). (2) After cervical cerclage, compared with women in the cervical dilatation group, the prolonged gestational age in the CL<10 mm group was longer [(10.5±4.6) vs (14.3±3.4) weeks], the gestational age at delivery was later (median: 35.7 vs 38.0 weeks), the preterm birth rates before 37 and 34 weeks were lower, the late abortion rate was lower [9% (5/55) vs 0 (0/43)], and the newborn birth weight was higher, the differences were statistically significant (all P<0.05). (3) Compared with the cervical dilation ≥4 cm group, the prolonged gestational age of the cervical dilatation <4 cm group was longer [(7.5±5.3) vs (11.1±4.2) weeks], the gestational age at delivery was later (median: 29.2 vs 36.0 weeks), and the birth weight of the newborn was higher (all P<0.05). The late abortion rate of cervical dilatation <4 cm group was lower than that of cervical dilatation ≥4 cm group [7% (3/45) vs 2/10; P=0.220]. Conclusions:Timely cervical cerclage in individuals with CL<10 mm could reduce preterm birth rate before 34 weeks gestation, and the pregnancy outcome is better than that of individuals with cervical dilation. Moreover, the pregnancy outcome of cervical cerclage in women with cervical dilation <4 cm is significantly better than that in women with cervical dilatation ≥4 cm.

Objective To investigate the application value of pan-immune-inflammation value(PIV),hypersensitive C-reactive protein(hs-CRP)/albumin(ALB)ratio(HCAR)and procalcitonin/platelet count ratio(PCT/PLT)in pulmonary infection in elderly patients with chronic obstructive pulmonary disease(COPD).Methods A total of 143 elderly patients with COPD and pulmonary bacterial infection were selected as the infected group.Meanwhile,143 elderly patients with COPD and without pulmonary infection were selected as the uninfected group.Patients in the infected group were furthrer divided into the mild group(47 cases),the moderate group(51 cases)and the severe group(45 cases)according to the degree of pulmonary infection.They were divided into the favorable prognosis group(112 cases)and the poor prognosis group(31 cases)according to the prognosis.Blood biochemical indicators,PIV,HCAR and PCT/PLT were compared between groups.The relationship between above indicators and pulmonary infection,infection degree and the prognosis was analyzed.Results Compared with the uninfected group,neutrophil(NEU),monocyte(MON),hs-CRP and PCT levels were higher,while lymphocyte(LYM)and ALB levels were lower in the infected group(P＜0.05).PIV,HCAR and PCT/PLT were higher in the infected group and the poor prognosis group than those in the uninfected group and the favorable prognosis group,respectively(P＜0.05).PIV,HCAR and PCT/PLT in the mild group,the moderate group and the severe group increased in sequence(P＜0.05).Spearman correlation analysis showed that PIV,HCAR and PCT/PLT were positively correlated with the degree of pulmonary infection(P＜0.05).Multivariate Logistic regression analysis showed that high levels of PIV,HCAR and PCT/PLT were independent risk factors for pulmonary infection in elderly patients with COPD(P＜0.05),and also independent risk factors for poor prognosis in patients with pulmonary infection(P＜0.05).The areas under the curve(AUC)of PIV combined with HCAR and PCT/PLT for diagnosing pulmonary infection in elderly patients with COPD and predicting poor prognosis in patients with pulmonary infection were 0.980 and 0.910(P＜0.05).Conclusion PIV,HCAR and PCT/PLT are related to COPD with pulmonary infection in the elderly.They can help to identify pulmonary infection,judge the condition of pulmonary infection and evaluate the prognosis in patients with pulmonary infection.

Objective:To screen and analyze the carcinogenesis-related differential expression profile of long non-coding RNAs(LncRNAs)in oral lichen planus(OLP)mucosa tissue,and preliminarily analyze their functions,to explore their possible role in the development of OLP.Methods:High-throughput sequencing technology was used to construct differential expression profile from 5 cases of erosive OLP lesions and 5 of normal oral mucosa.LncRNAs that are closely related to the carcinogenesis of OLP were ob-tained by bioinformatics analysis.Results:400 LncRNAs associated with OLP were screened,of which 250 were up-regulated and 150 were down-regulated,and 5 LncRNAs were obtained with differential expression associated with OLP carcinogenesis:LncRNA 54055,100128560,399717,378825 and 100130231.Conclusion:400 LncRNAs are differentially expressed in the mucosa of erosive OLP lesions,and 5 of them are related to the incidence and carcinogenesis tendency of OLP.

Objective:To explore the impact of the two-way referral model on compliance and prognosis in patients with heart failure.Methods:This bidirectional cohort study enrolled chronic heart failure (CHF) patients treated at Qilu Hospital of Shandong University or designated primary hospitals between March 2018 and March 2022. Patients were categorized into two groups based on referral status: two-way referral group (participating in the referral model with≥1 follow-up visit at primary hospitals) and the core hospital group (receiving treatment and follow-up exclusively at Qilu Hospital). Baseline clinical characteristics were collected and compared between groups. Patients underwent followed-up, with primary endpoints including follow-up rate, drug (β-blockers, angiotension converting enzyme inhibitor (ACEI)/angiotensin Ⅱ receptor blockers (ARB)/angiotensin receptor-neprilysin inhibitor (ARNI), sodium-glucose cotransporter 2 inhibitors and mineralocorticoid receptor antagonists) utilization rate and target dose achievement rate. Secondary endpoints encompassed changes from baseline in left ventricular ejection fraction (LVEF), left ventricular end-diastolic diameter (LVEDd), and N-terminal pro-brain natriuretic peptide (NT-proBNP), plus cardiovascular mortality and heart failure rehospitalization. Generalized linear mixed models analyzed longitudinal trends in LVEF, LVEDd, and NT-proBNP levels. Kaplan-Meier curves and Cox regression evaluated LVEF recovery rates, supplemented by subgroup analyses. Multivariate logistic regression was used to identify factors influencing target dose achievement rate for β-blockers and ACEI/ARB/ARNI therapies in CHF patients.Results:A total of 357 patients were enrolled, aged 53 (41, 63) years, including 256 males (71.7%). 157 patients were in the two-way referral group and 200 patients in the core hospital-treated group. Compared with the core hospital-treated group, the two-way referral group had lower baseline LVEF (28 (22, 34)% vs. 31 (23, 36)%, P=0.021) and systolic blood pressure (116 (104, 125) mmHg vs. 121 (109, 134) mmHg (1 mmHg=0.133 kPa), P=0.010). The 12-month follow-up rate of the two-way referral group was higher than the core hospital-treated group (73.8% vs. 56.0%, P=0.004). No significant between-group differences were observed in drug utilization rate of β-blockers, ACEI/ARB/ARNI, or sodium-glucose cotransporter 2 inhibitors during follow-up (all P>0.05), while mineralocorticoid receptor antagonists use showed a declining trend in both groups. Although the core hospital-treated group had higher target dose achievement rates for β-blockers (65.4% vs. 49.3%, P=0.042) and ACEI/ARB/ARNI (79.8% vs. 65.8%, P=0.046) than the two-way referral group, multivariate logistic regression indicated that the two-way referral model was not a negative predictor for these outcomes (all P>0.05). Both groups showed improved NT-proBNP, LVEDd, and LVEF from baseline (all P<0.001) with no significant difference in trends between groups (all P>0.05). There was no significant difference in the composite incidence (7.6% vs. 6.5%, P=0.674) and cumulative incidence (log-rank P=0.684) of cardiovascular death and heart failure rehospitalization at 12 months between two groups. Conclusion:The two-way referral model demonstrates advantages in improving medication adherence, drug utilization rates, and targetdoseachievement rates among CHF patients. This model not only promotes cardiac functional recovery but also reduces risks of cardiovascular mortality and heart failure rehospitalization, achieving comparable therapeutic and management outcomes to those observed in core hospital-treated patients.

In patients with Graves′ disease, repeated transition between hyperthyroidism and hypothyroidism is uncommon. This report describes a female Graves′ disease patient with persistently high levels of thyroid-stimulating hormone receptor antibodies, who experienced multiple transitions between hyperthyroidism and hypothyroidism over a 7-year follow-up period, including during pregnancy. The fluctuations may be linked to the interplay between thyroid-stimulating hormone receptor stimulating antibody(TSAb) and thyroid-stimulating hormone receptor blocking antibody(TBAb). Treatment with either antithyroid medications or levothyroxine sodium, based on the patient′s thyroid status, helped maintain normal thyroid function. Stable thyroid function may contribute to maintaining a consistent thyroid immune status and reducing thyroid function fluctuation.

Maternal high titers of thyroid stimulating hormone receptor antibody(TRAb) during pregnancy can cause fetal and neonatal thyroid dysfunction, among which hypothyroidism is relatively rare. In this case, the woman was diagnosed with Hashimoto′s hypothyroidism prior to pregnancy and was treated with levothyroxine(LT 4) to maintain normal thyroid function throughout gestation. Despite normal maternal thyroid function, TRAb levels remained persistently elevated during pregnancy. The fetus showed a normal fetal thyroid circumference and heart rate, but no secondary ossification center was observed at 37 + 6 weeks of gestation. On the 9th day after birth, the neonate was diagnosed with congenital hypothyroidism and started on LT 4 replacement therapy. By 7 months of age, thyroid function had normalized, and LT 4 was discontinued. This case highlights the importance of close monitoring of fetal growth and neonatal thyroid function in pregnant women with high TRAb titers, to ensure timely detection and management of fetal and neonatal thyroid dysfunction.

Objective:This study aimed to construct a prediction model for diagnosis of proliferative lupus nephritis based on a machine learning algorithm. Additionally, a user-friendly platform was developed to propose a non-invasive method to assist the pathologic classification of lupus nephritis.Methods:A retrospective analysis was conducted on clinical and pathological data of lupus nephritis patients confirmed by renal biopsy at Zhengzhou University People′s Hospital from January 2017 to August 2023. The study population was randomly divided into training and testing sets in a 7∶3 ratio. Utilizing six machine learning algorithms, classification models were developed. The predictive performance of each model was assessed using metrics such as accuracy, sensitivity, specificity, and the area under the receiver operating characteristic curve (AUC). The optimal model, once identified, was deployed as a web-based calculator for convenient model application. SPSS 25.0 and R 4.2.2 were used to analyze the data.Results:The study included a total of 212 patients, with 138 cases with proliferative lupus nephritis and 74 cases with non-proliferative lupus nephritis. The AUC values for the six models, namely logistic regression, decision tree, random forest, support vector machine, extreme gradient boosting, and light gradient boosting machine, were 0.79, 0.62, 0.79, 0.88, 0.81, and 0.77, respectively; the accuracy rates were 82.54%, 65.08%, 74.60%, 85.71%, 69.84%, 71.43%, respectively. Among them, the support vector machine model demonstrated the optimal performance. This model had deployed as a web-based calculator. Based on feature importance scores, the top 10 influencing factors were identified, including anti URNP antibody, immunoglobulin G, serum globulin, estimated glomerular filtration rate, anti Smith antibody, BMI index, anti dsDNA antibody, uric acid, anti-Rib.p antibody, and gender.Conclusion:A prediction model based on machine learning algorithms was successfully established, and a web calculator was developed to offer a simple and non-invasive method for diagnosing proliferative lupus nephritis. This can assist clinicians in evaluating the risk-benefit ratio of kidney biopsy in patients with lupus nephritis.