OBJECTIVES: To investigate the underlying causes and clinical manifestations in infants undergoing colonoscopy, and to analyze changes in disease spectrum. METHODS: Clinical data from 180 infants who underwent a total of 184 colonoscopies at the Department of Gastroenterology, Children's Hospital Affiliated to Shandong University from January 2015 to December 2024 were retrospectively analyzed. Patients were grouped by age: ≤6 months (n=41) and >6-12 months (n=139); and by examination period: 2015-2019 (n=83) and 2020-2024 (n=97). Primary causes for performing colonoscopy, final diagnoses, and disease spectrum evolution were assessed. RESULTS: Among 184 colonoscopies, the leading causes prompting examination were hematochezia (37.8%, 68/180), diarrhea (36.7%, 66/180), and co-occurring hematochezia and diarrhea (21.1%, 38/180). Causes for performing colonoscopy differed significantly by age group (P<0.05). Colonic polyps were only detected in the >6-12 months group (P<0.05). Compared to the 2015-2019 group, the 2020-2024 group had fewer food allergy-related gastrointestinal diseases (P<0.05) but more colitis (P<0.05). CONCLUSIONS Colonoscopy is essential for diagnosing infantile digestive disorders, with disease spectra varying by age and time period.
Humans ; Infant ; Colonoscopy ; Male ; Female ; Retrospective Studies ; Infant, Newborn ; Diarrhea/etiology* ; Gastrointestinal Hemorrhage/etiology*

Objective:To explore the clinical characteristics and treatment methods of middle ear cholesteatoma with intracranial and extracranial complications as the first diagnosis. Methods:A total of 244 patients were initially diagnosed with intracranial and/or extracranial complications associated with middle ear cholesteatoma at the First Affiliated Hospital of Zhengzhou University from January 2015 to January 2022, and medical records were collected and retrospectively analyzed. Results:Among 244 patients with intracranial and extracranial complications of middle ear cholesteatoma, 203 cases had one complication, 34 cases had 2 complications, and 7 cases had 3 or more complications. One hundred and eighty-six cases presented labyrinthitis, 41 cases had peripheral facial paralysis, 27 cases had periauricular abscess, 12 cases had meningitis, 10 cases had brain abscess, 7 cases had sigmoid sinus lesions, 6 cases had epidural abscess, and 4 cases demonstrated hydrocephalus. Conclusion:The destructive nature of middle ear cholesteatoma can lead to intracranial and extracranial complications. The incidence rate of extracranial complications is highest for labyrinthitis. Patients with otitis media who complained dizziness should raise clinical suspicion for potential labyrinthitis. The second most prevalent extracranial complication is peripheral facial paralysis, and early facial nerve decompression surgery is critical for better recovery of facial paralysis symptoms. Brain abscess is the most common intracranial complications, which has the highest fatality rate. Clinicians should be alert to otogenic brain abscess. Otolaryngology and neurosurgery teams should cooperate and evaluate patients' middle ear lesions and brain abscess, and jointly develop personalized treatment plans.
Humans ; Cholesteatoma, Middle Ear/surgery* ; Retrospective Studies ; Facial Paralysis/etiology* ; Brain Abscess/diagnosis* ; Male ; Female ; Otitis Media/complications* ; Meningitis/etiology* ; Labyrinthitis/etiology* ; Adult ; Middle Aged ; Young Adult

Objective:X-linked non-syndromic hearing loss is an extremely rare type of hearing impairment. This study conducted a phenotypic and genetic analysis of a family with X-linked dominant inheritance to explore the causes of hearing loss. Methods:Clinical data were collected from a patient with non-syndromic hearing loss who visited the Otorhinolaryngology Department of the First Affiliated Hospital of Zhengzhou University in June 2023. Phenotypic and genetic analyses were performed on family members, including audiometric tests, whole-exome sequencing, and PCR-Sanger sequencing verification. Audiological assessments comprised pure-tone audiometry, impedance audiometry, auditory brainstem response, and otoacoustic emission tests. Results:The affected individuals in this pedigree have X-linked dominant non-syndromic deafness caused by mutations in the SMPX gene. The proband, along with their mother and maternal grandmother, exhibit varying degrees of sensorineural hearing loss. Whole-exome sequencing revealed a novel pathogenic variant, NM_014332.3: c. 133-2A>C, in the SMPX gene in the proband. Sanger sequencing confirmed that the proband, proband's mother, and grandmother all carried this pathogenic variant. Conclusion:This study reports a novel pathogenic variant in the SMPX gene, providing additional medical evidence for the diagnosis and treatment of X-linked dominant inherited non-syndromic hearing loss. It enriches the mutation spectrum of the SMPX gene.
Humans ; Pedigree ; Mutation ; Phenotype ; Male ; Hearing Loss, Sensorineural/genetics* ; Exome Sequencing ; Female ; Adult ; Hearing Loss/genetics* ; Evoked Potentials, Auditory, Brain Stem ; Muscle Proteins

BACKGROUND:Ankylosing spondylitis is a progressive inflammation of spinal stiffness deformity caused by tissue ossification and fibrosis.The posture of ankylosing spondylitis patients is abnormal and their activities are limited that minor injuries can lead to thoracolumbar fractures.Traditional medical image observation limits doctors'preoperative decision planning and postoperative disease prevention for ankylosing spondylitis treatment. OBJECTIVE:Based on the spinal model of ankylosing spondylitis patients before and after posterior spinal cancellous ossification osteotomy("Y"osteotomy for short),to explore the biomechanical changes of"Y"osteotomy and fixation in the treatment of ankylosing spondylitis. METHODS:Based on the preoperative and postoperative CT images of an ankylosing spondylitis patient who went to the Second Affiliated Hospital of Inner Mongolia Medical University,a three-dimensional spine model(T11-S1)before and after"Y"osteotomy(L3 osteotomy)was reconstructed in Mimics 19.0 software.A 7.5 Nm torque was applied to the top of T11 vertebral body to simulate the movement of the spine under six conditions:flexion,extension,left bending,right bending,left rotation and right rotation.Finally,the range of motion of each vertebral body,the stress of each intervertebral disc,and the stress of the screw rod system were simulated. RESULTS AND CONCLUSION:(1)After"Y"type osteotomy and posterior fixation,the range of motion of all vertebrae in the spine decreased,and the loss rate of upper vertebrae was large(L1:77.95%).(2)The maximum stress of the spinal intervertebral disc before operation occurred at the L1-L2 segment(0.55 MPa),and the maximum stress of the spinal intervertebral disc after operation occurred at the T11-T12 segment(0.50 MPa),and the stress of intervertebral disc below T12 was far less than that before operation.(3)The maximum stress of the screw rod system(166.67 MPa)occurred in the upper and middle segments of the rod body and the root of the pedicle screw.(4)In conclusion,the"Y"type posterior fixation operation enhances the stability of the spine and reduces the range of motion of the spine.The vertebral body decompression of the fixed segment is great and the stress-shielding phenomenon of the lower vertebral body is significant.The stiffness of the rod body and the stress concentration area of the pedicle screw should be strengthened to avoid the fracture of the rod caused by stress fatigue.

Objective To observe the safety and efficacy of perioperative short-duration platelet membrane glycoprotein Ⅱ b/Ⅲ a receptor antagonist(GPI)in elderly patients undergoing primary percutaneous coronary intervention(PPCI)for acute ST-segment elevation myocardial infarction(STEMI)with high thrombotic burden.Methods A total of 140 elderly patients with acute STEMI admitted to our department from October 2021 to January 2024 were recruited and ran-domly divided into experimental group(short duration)and control group(standard duration),with 70 cases in each group.The occurrence of MACE,complete rate of ST segment resolution 2 h after surgery,blood flow classification thrombolysis in myocardial infarction(TIMI),left ventric-ular ejection fraction(LVEF),N-terminal pro-B-type natriuretic peptide(NT-proBNP),inhibition of platelet aggregation(IPA)by thromboelastography(TEG),maximum amplitude of adenosine diphosphate receptor pathway(MAADP),platelet-related indicators,and incidences of thrombocy-topenia and bleeding events were observed in the 2 groups after operation.Results There were no significant differences in postoperative recurrence of angina pectoris,acute heart failure,malignant arrhythmia,rate of ST segment resolution,TIMI blood flow grade 3,no reflow,LVEF,NT-proBNP level before discharge,and incidences of severe hemorrhage and thrombocytopenia during hospi-talization between the two groups(P＞0.05).The experimental group had significantly lower IPA[(76.1±15.3)％vs(96.3+19.4)％,P=0.016]and higher MAADP(45.6±8.2 mm vs 26.7±9.7 mm,P=0.028)in 18 h after operation,and lower incidence of minor bleeding(7.1％vs 24.3％,P＜0.05)during hospitalization when compared with the control group.Conclusion Under the premise of using a novel oral purinergic receptor P2Y12 inhibitor,short-term GPI is not inferior to the standard time course in achievement of IPA,with similar efficacy and relatively better safety.

Objective To systematically evaluate the application efficacy of failure mode and effect analysis(FMEA)management mode in the prevention and control of healthcare-associated infection(HAI).Methods Li-terature on the application of FMEA management mode in HAI prevention and control were retrieved from PubMed,Embase,the Cochrane Library,China National Knowledge Infrastructure(CNKI),VIP Database,Wanfang Data-base,and China Biomedical Literature Database(CBM).Two researchers independently screened the literature,ex-tracted data,and conducted cross checking.Risk and quality assessments were performed on the included studies of randomized controlled trials by ROB tool,the included cohort studies were scored by Newcastle-Ottawa(NOS)scale,and Meta-analysis was conducted by RevMan 5.4 software.Results A total of 22 studies involving 42 815 patients were included in the analysis,with 21 784 in the FMEA management mode group and 21 031 in the control group.Meta-analysis results showed that the incidence of HAI in the FMEA management mode group was lower than that in the control group(OR=0.31,95％CI[0.24,0.40]).Compared with the conventional management mode,incidences of superficial surgical site infection(OR=0.53,95％CI[0.36,0.78]),respiratory system infec-tion(OR=0.44,95％CI[0.35,0.56]),urinary system infection(OR=0.45,95％CI[0.38,0.53]),and blood system infection(OR=0.29,95％CI[0.18,0.45])in the FMEA management mode group were all lower(all P＜0.01).Conclusion The application of FMEA management mode in HAI prevention and control can reduce the inci-dence of HAI,which should be actively promoted in hospital management.

Objective To study and verify the function of de novo interferon regulatory factor(IRF8)frameshift mutation detected in an etiology screening of the cohort of children with recurrent pneumonia at the molecular level.Methods The recombinant overexpression plasmids with wildtype or mutated IRF8 genes were constructed to transiently transfect HEK293T cells,or packed into lentivirus to infect two kinds of immune cell lines.Q-PCR,Western blot,immunofluorescence and other experimental assays were performed to explore the differences of expression and the regulatory effect on downstream genes associated with inflammation.Results The recombinant vectors with wildtype or mutated IRF8 genes were constructed successfully,and the efficiency of transfection by plasmids and infection by packed lentivirus was remarkable as well.Compared with wildtype,the molecular weight of IRF8 variant was slightly increased,while the expression level presents in opposition,even if on transcription level.Moreover,the localization of IRF8 variant was detected in abundance in nucleus rather than cytoplasm,and its inhibition effect was enhanced on the downstream ISRE element in comparison with the wildtype IRF8 protein.Conclusion The de novo frameshift mutation was presumed as gain-of-function(GOF)mutation.

AIM: To observe the postoperative changes in macular morphological structure and blood flow density of patients with idiopathic macular epiretinal membrane(IMEM)by optical coherence tomography angiography(OCTA), and explore their correlation with visual acuity.METHOD: Prospective study. A total of 45 cases(45 eyes)with IMEM admitted to our hospital from January 2020 to July 2021 were included. The best corrected visual acuity(BCVA), central macular area thickness(CMT), foveal avascular zone(FAZ)area and changes in blood flow density of superficial capillary plexus(SCP)were observed at 1mo, 1, 3 and 6mo before and after operation.RESULT: The BCVA at 1wk after operation had no significant change compared with preoperative data(P>0.05), while it was improved at other time points(P<0.05). The CMT measured at 1wk after operation was thickened significantly(P<0.05), while it was significantly decreased at 1mo, 3mo and 6mo after operation(P<0.05). The FAZ area measured at 1wk and 1mo after operation had no significant change(P>0.05), while it was significantly enlarged at 3 and 6mo after operation(P<0.05). The SCP measured at 1wk, 1 and 3mo after operation had no significant change(P>0.05), while it was significantly decreased at 6mo after operation(P<0.05). BCVA measured at 3 and 6mo after operation was positively correlated with CMT(r=0.457, 0.615, P=0.032, 0.012).CONCLUSION: The visual acuity of patients with IMEM recovered quickly within 1mo after operation, and then it tended to be stable. However, the recovery of macular foveal morphology and blood flow distribution was slower than that of visual acuity, and there was no obvious correlation with visual acuity.

Objective: To explore the characteristics and correlations of vaginal flora in women with cervical lesions. Methods: A total of 132 women, including 41 women diagnosed with normal cervical (NC), 39 patients with low-grade cervical intraepithelial neoplasia (CIN 1), 37 patients with high-grade cervical intraepithelial neoplasia (CIN 2/3) and 15 patients with cervical squamous cell carcinoma (SCC), who came from the gynecological clinic of Second Hospital of Shanxi Medical University during January 2018 to June 2018, were enrolled in this study according to the inclusive and exclusive criteria strictly. The vaginal flora was detected by 16S rDNA sequencing technology. Co-occurrence network analysis was used to investigate the Spearman correlations between different genera of bacteria. Results: The dominant bacteria in NC, CIN 1 and CIN 2/3 groups were Lactobacillus [constituent ratios 79.4% (1 869 598/2 354 098), 63.6% (1 536 466/2 415 100) and 58.3% (1 342 896/2 301 536), respectively], while Peptophilus [20.4% (246 072/1 205 154) ] was the dominant bacteria in SCC group. With the aggravation of cervical lesions, the diversity of vaginal flora gradually increased (Shannon index: F=6.39, P=0.001; Simpson index: F=3.95, P=0.012). During the cervical lesion progress, the ratio of Lactobacillus gradually decreased, the ratio of other anaerobes such as Peptophilus, Sneathia, Prevotella and etc. gradually increased, and the differential bacteria (LDA score >3.5) gradually evolved from Lactobacillus to other anaerobes. The top 10 relative abundance bacteria, spearman correlation coefficient>0.4 and P<0.05 were selected. Co-occurrence network analysis showed that Prevotella, Peptophilus, Porphyrinomonas, Anaerococcus, Sneathia, Atopobium, Gardnerella and Streptococcus were positively correlated in different stages of cervical lesions, while Lactobacillus was negatively correlated with the above anaerobes. It was found that the relationship between vaginal floras in CIN 1 group was the most complex and only Peptophilus was significantly negatively correlated with Lactobacillus in SCC group. Conclusions: The increased diversity and changed correlations between vaginal floras are closely related to cervical lesions. Peptophilus is of great significance in the diagnosis, prediction and early warning of cervical carcinogenesis.
Female ; Humans ; Vagina/microbiology* ; Uterine Cervical Neoplasms/genetics* ; Uterine Cervical Dysplasia ; Cervix Uteri ; Lactobacillus/genetics* ; Papillomavirus Infections

To investigate the effect of inactivated new tu-berculosis vaccine strain(B/R strain)on immune memory of T lymphocytes in mice,C57BL/6 mice were immunized with PBS,BCG strain,B/R strain and inactivated B/R strain.At week 9,12 and 15 after immunization,the spleens of each group were taken,and the spleen lymphocytes were extracted.Half of the spleen lymphocytes in each group were directly de-tected,and the rest were cultured in vitro and stimulated with PPD according to the experimental design.Flow cytometry was used to detect the number of central memory T cells(TCM)and effector memory T cells(TEM)in spleen lymphocytes of uns-timulated and stimulated mice.Without PPD stimulation after immunization,the CD4+TCM(F=13.20,P＜0.05)and CD4+TEM(F=28.15,P＜0.05)induced by inactivated B/R group,B/R group and BCG group was higher than that of PBS group at week 9.The induced CD8+TCM(F=8.92,P＜0.05)and CD8+TEM(F=6.13,P＜0.05)was higher than that of PBS group.At week 12,the CD4+TCM(F=15.97,P＜0.05)and CD4+TEM(F=13.60,P＜0.05)induced by each group was higher than that of PBS group.The induced CD8+TCM(F=5.52,P＜0.05)and CD8+TEM(F=20.15,P＜0.05)was higher than that of PBS group.At week 15,the CD4+TCM(F=15.40,P＜0.05)and CD4+TEM(F=7.43,P＜0.05)induced by each group was higher than that of PBS group.The induced CD8+TCM(F=6.57,P＜0.05)and CD8+TEM(F=9.27,P＜0.05)was higher than that of PBS group.At week 9,the CD4+TCM(F=9.66,P＜0.05)and CD4+TEM(F=11.20,P＜0.05)induced by inacti-vated B/R group,B/R group and BCG group was higher than that of PBS group.The induced CD8+TCM(F=7.24,P＜0.05)and CD8+TEM(F=9.30,P＜0.05)was higher than that of PBS group.At week 12,the CD4+TCM(F=9.33,P＜0.05)and CD4+TEM(F=6.94,P＜0.05)induced by each group was higher than that of PBS group.The induced CD8+TCM(F=67.71,P＜0.05)and CD8+TEM(F=10.86,P＜0.05)was higher than that of PBS group.At week 15,the CD4+TCM(F=39.88,P＜0.05)and CD4+TEM(F=11.93,P＜0.05)induced by each group was higher than that of PBS group.The induced CD8+TCM and CD8+TEM(F=38.47,P＜0.05)was higher than that of PBS group(F=138.80,P＜0.05).It is worth noting that at week 15,the CD8+TCM(qinactivated B/R=12.24,qB/R=12.61,P＜0.05)and CD8+TEM(qinactivated B/R=7.19,qB/R=5.00,P＜0.05)induced by inactivated B/R group and B/R group were higher than those of BCG group.The immunizing mice with inactivated B/R strain,the ability of inducing immune memory of T lymphocytes in mice was equivalent to that of B/R strain.Heat-inacti-vation did not affect the ability of B/R strain to induce immune memory in mice.