Objective:To analyze the genetic characteristics of clinical manifestations in children with KBG syndrome due to microdeletions.Methods:A retrospective case summary was conducted. Four children diagnosed with KBG syndrome due to 16q24.3 microdeletion at Children′s Hospital of Zhengzhou University from July 2021 to April 2024 were enrolled.Their clinical manifestations, biochemical parameters, imaging data, whole-exome sequencing results, treatments and follow-up outcomes were reviewed.Results:The cohort included two males and two females (diagnosed at 81, 18, 26, and 56 months of age, respectively), from four unrelated families. All patients exhibited peculiar facial features (Cupid′s bowed-shaped lips, prominent ears, thick eyebrows), skeletal abnormalities (brachydactyly, abnormal ribs, short stature, etc.), ocular anomalies (astigmatism, strabismus, amblyopia, etc.), intrauterine growth restriction, and developmental retardation. Case 2, 3, 4 had cranial imaging abnormalities, including thin anterior pituitary lobes with pineal cyst, left ventricular cyst, and abnormal pituitary stalk or lateral ventricles with sinusitis, respectively. Two children had intellectual disability, two had congenital heart disease, and one had delayed bone age and hair abnormalities. Whole exome genomic sequencing confirmed 16q24.3 microdeletions encompassing ANKRD11 gene in all four cases. Two children treated with recombinant human growth hormone achieved height increments of 1.5 s and 0.4 s, respectively. Conclusions:Typical features of 16q24.3 microdeletion-induced KBG syndrome include peculiar facial features, macrodontia, skeletal anomalies, neurological abnormalities, and ocular defects. Genetic testing is essential for definitive diagnosis. The treatment of KBG syndrome requires early diagnosis and multidisciplinary collaboration to implement individualized treatment for multisystem symptoms.

Enamel demineralization, the formation of white spot lesions, is a common issue in clinical orthodontic treatment. The appearance of white spot lesions not only affects the texture and health of dental hard tissues but also impacts the health and aesthetics of teeth after orthodontic treatment. The prevention, diagnosis, and treatment of white spot lesions that occur throughout the orthodontic treatment process involve multiple dental specialties. This expert consensus will focus on providing guiding opinions on the management and prevention of white spot lesions during orthodontic treatment, advocating for proactive prevention, early detection, timely treatment, scientific follow-up, and multidisciplinary management of white spot lesions throughout the orthodontic process, thereby maintaining the dental health of patients during orthodontic treatment.
Humans ; Consensus ; Dental Caries/etiology* ; Dental Enamel/pathology* ; Tooth Demineralization/etiology* ; Tooth Remineralization

Objective To analyze the changes of neutrophil-to-albumin ratio(NPAR),monocyte-to-lymphocyte ratio(MLR),neutrophil-to-lymphocyte ratio(NLR)and interleukin-17A(IL-17A)in patients with severe autoimmune encephalitis(AE)and the predictive value of their combined detection for prognosis.Methods A total of 105 patients with severe AE admitted from May 2021 to April 2025 were selected as the severe group.During the same period,35 patients with mild-to-moderate AE and 35 healthy controls were enrolled in a 3:1:1 ratio as the mild-to-moderate group and control group respectively.The levels of NPAR,MLR,NLR and IL-17A were compared among the three groups.Patients with severe AE were observed for one month.According to the prognosis of patients,they were divided into poor prognosis subgroup[modified Rankin scale(mRS)score≥3,n=31]and good prognosis subgroup(mRS score<3,n=74).The levels of NPAR,MLR,NLR and IL-17A in the two groups were compared,to analyze the correlation between NPAR,MLR,NLR and IL-17A levels and mRS score in patients with severe AE,and to evaluate the predictive value of combined detection of the four indicators for prognosis in these patients.Results The levels of NPAR,MLR,NLR and serum IL-17A in mild-to-moderate group and severe group were higher than those in control group,which were higher in the severe group than in the mild-to-moderate group(P<0.05).The course of disease in the poor prognosis group was longer than that in the good prognosis group,and the proportion of patients with γ-aminobutyric acid B receptor antibody and the levels of NPAR,MLR,NLR and serum IL-17A were higher than those in the good prognosis group(P<0.05).Higher levels of NPAR,MLR,NLR and serum IL-17A were all risk factors for poor prognosis of patients with severe AE(OR=2.445,4.319,2.502,1.791,P<0.05).The levels of NPAR,MLR,NLR and serum IL-17A were positively correlated with the mRS score of patients with severe AE(r=0.546,0.519,0.554,0.561,P<0.001).The area under the receiver operating characteristic(ROC)curve(AUC)of NPAR,MLR,NLR and IL-17A detected in combination in predicting the prognosis of patients with severe AE was higher than that of the four indicators detected alone(P<0.05).Conclusion The changes in NPAR,MLR,NLR and IL-17A levels in patients with AE were closely related to the severity and prognosis of the disease.In the meantime,higher levels of NPAR,MLR,NLR and serum IL-17A were risk factors for poor prognosis,and the combined detection of the four indicators could effectively improve the predictive value for prognosis in patients with severe AE.

This article reports a successful case of preimplantation genetic testing (PGT) in a patient with autosomal dominant polycystic kidney disease type 2 (PKD2) combined with Robertsonian translocation. The patient carried a heterozygous frameshift mutation ( PKD2 c.428del, p.Gly143Alafs*90) and a Robertsonian translocation between chromosomes 14 and 15. Through combined PGT for monogenic disorders, structural rearrangements and aneuploidy screening, one euploid blastocyst free of the PKD2 mutation was selected from six embryos for transfer, resulting in the successful delivery of a healthy female infant. Follow-up until June 2025 confirmed normal developmental milestones. This case demonstrates that PGT can effectively mitigate dual genetic risks (monogenic disease and chromosomal abnormality), providing critical clinical insights for optimizing reproductive outcomes in patients with complex genetic backgrounds.

Diabetic retinopathy(DR)-related neovascular glaucoma(NVG)is a severe ocular complication of diabe-tes,characterized by a high blindness rate and complex diagnosis and treatment.Currently,there is a lack of systematic,whole-process management guidelines for DR-NVG in China.To standardize the clinical diagnosis,treatment,and health management of DR-NVG,domestic retinal disease and glaucoma experts have developed the first expert consensus on the whole-process management of neovascular glaucoma associated with diabetic retinopathy,by integrating the latest evi-dence-based medical evidence and clinical practice experience from both domestic and intemational sources.Centering on the disease characteristics of DR-NVG,this consensus proposes scientific and standardized whole-process management strategies,encompassing early screening and risk assessment,precise diagnosis and staging,multi-mode combination ther-apy,perioperative management,and long-term follow-up.It mainly covers the screening and diagnosis of high-risk popula-tions,the timing of anti-VEGF therapy and pan-retinal photocoagulation application,and indications for surgical interven-tion.The aim is to provide standardized guidance for ophthalmologists and public health workers,improve the prevention and treatment level of DR-NVG,and reduce the incidence of irreversible visual impairment.

This article reports a successful case of preimplantation genetic testing (PGT) in a patient with autosomal dominant polycystic kidney disease type 2 (PKD2) combined with Robertsonian translocation. The patient carried a heterozygous frameshift mutation ( PKD2 c.428del, p.Gly143Alafs*90) and a Robertsonian translocation between chromosomes 14 and 15. Through combined PGT for monogenic disorders, structural rearrangements and aneuploidy screening, one euploid blastocyst free of the PKD2 mutation was selected from six embryos for transfer, resulting in the successful delivery of a healthy female infant. Follow-up until June 2025 confirmed normal developmental milestones. This case demonstrates that PGT can effectively mitigate dual genetic risks (monogenic disease and chromosomal abnormality), providing critical clinical insights for optimizing reproductive outcomes in patients with complex genetic backgrounds.

Objective To analyze the changes of neutrophil-to-albumin ratio(NPAR),monocyte-to-lymphocyte ratio(MLR),neutrophil-to-lymphocyte ratio(NLR)and interleukin-17A(IL-17A)in patients with severe autoimmune encephalitis(AE)and the predictive value of their combined detection for prognosis.Methods A total of 105 patients with severe AE admitted from May 2021 to April 2025 were selected as the severe group.During the same period,35 patients with mild-to-moderate AE and 35 healthy controls were enrolled in a 3:1:1 ratio as the mild-to-moderate group and control group respectively.The levels of NPAR,MLR,NLR and IL-17A were compared among the three groups.Patients with severe AE were observed for one month.According to the prognosis of patients,they were divided into poor prognosis subgroup[modified Rankin scale(mRS)score≥3,n=31]and good prognosis subgroup(mRS score<3,n=74).The levels of NPAR,MLR,NLR and IL-17A in the two groups were compared,to analyze the correlation between NPAR,MLR,NLR and IL-17A levels and mRS score in patients with severe AE,and to evaluate the predictive value of combined detection of the four indicators for prognosis in these patients.Results The levels of NPAR,MLR,NLR and serum IL-17A in mild-to-moderate group and severe group were higher than those in control group,which were higher in the severe group than in the mild-to-moderate group(P<0.05).The course of disease in the poor prognosis group was longer than that in the good prognosis group,and the proportion of patients with γ-aminobutyric acid B receptor antibody and the levels of NPAR,MLR,NLR and serum IL-17A were higher than those in the good prognosis group(P<0.05).Higher levels of NPAR,MLR,NLR and serum IL-17A were all risk factors for poor prognosis of patients with severe AE(OR=2.445,4.319,2.502,1.791,P<0.05).The levels of NPAR,MLR,NLR and serum IL-17A were positively correlated with the mRS score of patients with severe AE(r=0.546,0.519,0.554,0.561,P<0.001).The area under the receiver operating characteristic(ROC)curve(AUC)of NPAR,MLR,NLR and IL-17A detected in combination in predicting the prognosis of patients with severe AE was higher than that of the four indicators detected alone(P<0.05).Conclusion The changes in NPAR,MLR,NLR and IL-17A levels in patients with AE were closely related to the severity and prognosis of the disease.In the meantime,higher levels of NPAR,MLR,NLR and serum IL-17A were risk factors for poor prognosis,and the combined detection of the four indicators could effectively improve the predictive value for prognosis in patients with severe AE.

Diabetic retinopathy(DR)-related neovascular glaucoma(NVG)is a severe ocular complication of diabe-tes,characterized by a high blindness rate and complex diagnosis and treatment.Currently,there is a lack of systematic,whole-process management guidelines for DR-NVG in China.To standardize the clinical diagnosis,treatment,and health management of DR-NVG,domestic retinal disease and glaucoma experts have developed the first expert consensus on the whole-process management of neovascular glaucoma associated with diabetic retinopathy,by integrating the latest evi-dence-based medical evidence and clinical practice experience from both domestic and intemational sources.Centering on the disease characteristics of DR-NVG,this consensus proposes scientific and standardized whole-process management strategies,encompassing early screening and risk assessment,precise diagnosis and staging,multi-mode combination ther-apy,perioperative management,and long-term follow-up.It mainly covers the screening and diagnosis of high-risk popula-tions,the timing of anti-VEGF therapy and pan-retinal photocoagulation application,and indications for surgical interven-tion.The aim is to provide standardized guidance for ophthalmologists and public health workers,improve the prevention and treatment level of DR-NVG,and reduce the incidence of irreversible visual impairment.

Objective:To analyze the genetic characteristics of clinical manifestations in children with KBG syndrome due to microdeletions.Methods:A retrospective case summary was conducted. Four children diagnosed with KBG syndrome due to 16q24.3 microdeletion at Children′s Hospital of Zhengzhou University from July 2021 to April 2024 were enrolled.Their clinical manifestations, biochemical parameters, imaging data, whole-exome sequencing results, treatments and follow-up outcomes were reviewed.Results:The cohort included two males and two females (diagnosed at 81, 18, 26, and 56 months of age, respectively), from four unrelated families. All patients exhibited peculiar facial features (Cupid′s bowed-shaped lips, prominent ears, thick eyebrows), skeletal abnormalities (brachydactyly, abnormal ribs, short stature, etc.), ocular anomalies (astigmatism, strabismus, amblyopia, etc.), intrauterine growth restriction, and developmental retardation. Case 2, 3, 4 had cranial imaging abnormalities, including thin anterior pituitary lobes with pineal cyst, left ventricular cyst, and abnormal pituitary stalk or lateral ventricles with sinusitis, respectively. Two children had intellectual disability, two had congenital heart disease, and one had delayed bone age and hair abnormalities. Whole exome genomic sequencing confirmed 16q24.3 microdeletions encompassing ANKRD11 gene in all four cases. Two children treated with recombinant human growth hormone achieved height increments of 1.5 s and 0.4 s, respectively. Conclusions:Typical features of 16q24.3 microdeletion-induced KBG syndrome include peculiar facial features, macrodontia, skeletal anomalies, neurological abnormalities, and ocular defects. Genetic testing is essential for definitive diagnosis. The treatment of KBG syndrome requires early diagnosis and multidisciplinary collaboration to implement individualized treatment for multisystem symptoms.

Objective To evaluate safety and efficacy of linaclotide combined with polyethylene glycol(PEG)for bowel preparation.Methods A total of 612 patients from Department of Gastroenterology at the Affiliated Hospital of Qingdao University for colonoscopy examination from January to June 2023 were selected.They were divided into group 1(1 L PEG+2 L PEG),group 2(linaclotide+2 L PEG)and group 3(1 L PEG+linaclotide+1 L PEG)by random number table method,with 204 cases in each group.The Ottawa Bowel Preparation Quality Scale(OBPS),the insertion time of colonoscopy,the time of the first defecation,the frequency of defecations,the occurrence of adverse effects and patients'tolerability were compared among the three groups.Results A total of 601 patients completed bowel preparation and accepted colonoscopy.Group 1 exhibited no statistically significant differences to group 2 with regards to OBPS and insertion time.However,Group 2 demonstrated a shorter duration for the time of the first defecation in comparison to both group 1 and group 3(P＜0.05).Group 1 displayed a higher frequency of defecations as compared to Group 2 and Group 3(P＜0.05).The incidence of adverse reactions was significantly lower in group 2 and group 3 than in group 1(P＜0.05).The overall tolerance score of patients in group 1 was low-er than that in group 2 and group 3(P＜0.05).Conclusions The effect of combining 2 L PEG with 290 μg of lina-clotide for bowel preparation before colonoscopy is similar to that of 3 L PEG.It can reduce the incidence of adverse reactions and patients exhibit good tolerance.For patients who are intolerant to a single high-dose administration of PEG,they need divided-dose regimen of 2 L PEG in combination with linaclotide.