OBJECTIVES: To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies. METHODS: A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the PAH gene. RESULTS: For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295). CONCLUSIONS Deep intronic variant analysis of the PAH gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for PAH hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.
Humans ; Phenylketonurias/epidemiology* ; Female ; Male ; Retrospective Studies ; Phenylalanine Hydroxylase/genetics* ; Mutation ; Child, Preschool ; China/epidemiology* ; Child ; Infant

Temporomandibular joint (TMJ) diseases are common clinical conditions. The number of patients with TMJ diseases is large, and the etiology, epidemiology, disease spectrum, and treatment of the disease remain controversial and unknown. To understand and master the current situation of the occurrence, development and prevention of TMJ diseases, as well as to identify the patterns in etiology, incidence, drug sensitivity, and prognosis is crucial for alleviating patients′suffering.This will facilitate in-depth medical research, effective disease prevention measures, and the formulation of corresponding health policies. Cohort construction and research has an irreplaceable role in precise disease prevention and significant improvement in diagnosis and treatment levels. Large-scale cohort studies are needed to explore the relationship between potential risk factors and outcomes of TMJ diseases, and to observe disease prognoses through long-term follw-ups. The consensus aims to establish a standard conceptual frame work for a cohort study on patients with TMJ disease while providing ideas for cohort data standards to this condition. TMJ disease cohort data consists of both common data standards applicable to all specific disease cohorts as well as disease-specific data standards. Common data were available for each specific disease cohort. By integrating different cohort research resources, standard problems or study variables can be unified. Long-term follow-up can be performed using consistent definitions and criteria across different projects for better core data collection. It is hoped that this consensus will be facilitate the development cohort studies of TMJ diseases.

Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

BACKGROUND:With the further development of minimally invasive concepts,unicompartmental knee arthroplasty has become an important treatment for osteoarthritis of the knee;however,early postoperative pain adversely affects the recovery process,so effective analgesic measures are necessary.Femoral nerve block and cocktail therapy are common analgesic methods for unicompartmental knee arthroplasty,but there is a lack of studies confirming the analgesic effect and safety of their combined application. OBJECTIVE:To investigate the analgesic effect of cocktail therapy combined with femoral nerve block in unicompartmental knee arthroplasty. METHODS:One hundred patients who received unicompartmental knee arthroplasty from October 2021 to January 2023 were selected as the study subjects.They were divided into a control group(n=50)and a study group(n=50)using a random number table method.The femoral nerve block was used in the control group,while cocktail therapy combined with femoral nerve block was used in the study group during unicompartmental knee arthroplasty.Postoperative analgesia effect,analgesic frequency of dezocine injection within 2 days after surgery,motion range of affected knee joint,KSS function scores,and the occurrence of postoperative adverse reactions were compared between the two groups. RESULTS AND CONCLUSION:(1)Visual analog scale scores in the study group were lower than those in the control group at 12,24,and 48 hours after surgery(P<0.05).(2)The analgesic frequency of dezocine in the study group was less than that in the control group within 2 days after surgery(P<0.05).(3)The motion range in the study group was higher than that in the control group 1 and 3 days after surgery(P<0.05).On day 14 after surgery,there was no significant difference in motion range between the two groups(P>0.05).(4)The knee KSS score in the study group was higher than that in the control group at 2 weeks after surgery(P<0.05).There was no statistically significant difference in knee KSS scores between the two groups from 6 weeks to 6 months after surgery(P>0.05).(5)The difference in the occurrence of adverse reactions within 14 days after surgery was not significant between the two groups(P>0.05).(6)These results show that the use of cocktail therapy combined with femoral nerve block in unicompartmental knee arthroplasty can effectively reduce postoperative pain,improve the analgesic effect,reduce the frequency of analgesic drugs,and improve motion range of the early affected knee joint of patients.

Objective To compare effectiveness between the modified and traditional pressure-overload myocardial hypertrophy(POMH) model by abdominal aorta coarctation (AAC) method. Methods Totally 45 rats were divided into three groups(n = 15 per group), sham group, traditional group, and modified group. In the traditional group, the diameter ol the abdominal aorta was narrowed to 0. 70 mm through a midline incision for 4 weeks; in the modified group, the diameter of the abdominal aorta was narrowed above the left kidney to 0. 45 mm for 1 week, and then the narrowing was lifted postoperatively. The cardiac index, heart weight (HW) /body weight (BW) and left ventricular index, left ventricular weight (LVW)/BW were measured from the heart specimens, and the cross-sectional area of cardiac myocytes, myocardial collagen area, and myocardial collagen area Iraction were measured in the pathological sections by HE staining and Masson staining. Results Compared with the sham group, the differences in end-systolic interventricular septum thickness (IVSs), left ventricular end-systolic posterior wall thickness (LVPWs), HW/BW, LVW/BW, cardiomyocyte cross-sectional area, myocardial collagen area, myocardial collagen area fraction, and brain natriuretic peptide (BNP) expression levels were statistically significant (P<0. 05) in the modilied and traditional groups of rats. The differences in these indices were not statistically significant between the modified and traditional groups (P>0. 05). Conclusion The modified abdominal aortic constriction method used in this experiment is time-saving, stable, homogeneous and easy to replicate, and is a more ideal approach to establish a rat model of POMH.

ObjectiveTo investigate the clinicopathological features， diagnosis and treatment methods， and prognosis of gallbladder sarcomatoid carcinoma （GBSC）. MethodsA retrospective analysis was performed for the clinical data of 16 patients with GBSC who were admitted to The First Affiliated Hospital of Zhengzhou University from January 2015 to April 2023， including general information， clinical manifestations， imaging features， pathological features， and treatment modality， and follow-up was performed for all patients. The Kaplan-Meier method was used to perform the survival analysis and plot the survival curve， and the Log-rank test was used for comparison between groups. ResultsAmong the 16 patients， there were 6 male patients and 10 female patients， with a mean age of 62.9±8.4 years. The main clinical manifestations were right upper abdominal pain in 13 patients （81.3%）， nausea in 5 patients （31.3%）， abdominal distension in 4 patients （25.0%）， poor appetite in 3 patients （18.8%）， weakness in 2 patients （12.5%）， fever in 2 patients （12.5%）， and jaundice in 1 patient （6.3%）， and 3 patients were asymptomatic and were found to have this disease by physical examination. Of all patients， 81.3% （13/16） were in the advanced stage （stage Ⅲ/Ⅳ） at the time of initial diagnosis. Histopathological examination showed that some cancer cells were spindle-shaped under the microscope， with marked nuclear division and noticeable heteromorphism. Immunohistochemistry showed a positive expression rate of 100% （16/16） for Vimentin， AE1/AE3， and CK8/18， and Ki-67 proliferation index was highly expressed in 81.3% （13/16） of the patients （≥50%）， with a median of 70% （range 20%‍ ‍—‍ ‍90%）. All 16 patients underwent surgical treatment， with radical surgery in 11 patients and palliative surgery in 5 patients， among whom 9 received R0 resection， 2 received R1 resection， and 5 received R2 resection， and 7 patients received adjuvant therapy after surgery. Effective follow-up was achieved for all 16 patients， with a follow-up time of 0.5‍ ‍—‍ ‍26.0 months and a median follow-up time of 11.0 months. By the end of follow-up， 2 patients survived and 14 patients died due to tumor recurrence or metastasis， with a median survival time of 10.0 months， and the 1- and 2-year cumulative survival rates after surgery were 31.3% and 8.3%， respectively. The prognostic analysis showed that TNM stage （χ²=6.727， P=0.009）， surgical approach （χ²=7.508， P=0.006）， margin condition （χ²=7.934， P=0.005）， and adjuvant therapy （χ²=4.608， P=0.032） were associated with the prognosis of patients. ConclusionThe clinical manifestations of GBSC lack specificity， and a confirmed diagnosis relies on immunohistochemical analysis. Most patients are in the advanced disease at the time of initial diagnosis and tend to have a poor prognosis. There are currently no targeted therapies for this disease， and radical surgery with negative margins and adjuvant therapy can improve the survival rate of patients.

Objective To explore the application value of emergency temporal body surface positioning for single drain dual-target thalamic hematoma ventricular drainage in the treatment of thalamic hemorrhage breaking into ventricle with hydrocephalus.Methods A retrospective analysis was conducted on 223 patients with thalamic hemorrhage breaking into the ventricles with hydrocephalus,including a study group of 115 cases who underwent emergency single drain dual-target thalamic hematoma ventricular drainage surgery with temporal body surface positioning,and a control group of 108 cases who underwent emergency ventricular drainage first and then underwent stereotactic thalamic hematoma drainage surgery after the condition stabilized.Compare the differences in postoperative complications and treatment outcomes between two groups of patients,and evaluate the application value of temporal surface positioning for single drain dual-target thalamic hematoma ventricular drainage surgery in the treatment of thalamic hemorrhage breaking into the ventricle with hydrocephalus.Results The postoperative rebleeding rates,hematoma clearance and death were 5.2％,87.5％±7.3％and 13.9％in the study group and 4.7％,90.2％±8.5％and 15.7％in control group,respectively.There was no significant difference between the two groups(P＞0.05).The tube time,postoperative intracranial infection,Shunt dependent hydrocephalus,effective treatment and favorable prognosis of and the control group were(75.5±18.4)h,3.5％,19.1％,53.9％and 51.3％in the study group and(130.8±22.9)h,13.9％,35.1％,38.7％and 38.0％,respectively.The difference between the two groups was statistically significant(P＜0.05).Conclusion Body surface landmark-guided emergency single drain dual-target thalamic hematoma ventricular drainage surgery for the treatment of thalamic hemorrhage breaking into the ventricle with hydrocephalus is safe and reliable,and can improve the patient's prognosis.