To have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.

We used retrospective analysis to analyze the clinical data of four patients who were diagnosed with SIOD at the Children′ hospital of Fudan University from May 2018 to June 2024.

The onset of disease of the four patients of this study was in their early childhood or preschool. All four patients had lymphopenia. Two patients had proteinuria, and one patient has progressed to chronic renal failure. One patient presented with short stature. The treatment for the four patients was mainly by symptomatic supportive therapy and on prevention and delay of renal failure disease.

The patients with SIOD have different onset symptoms and progression of the disease.The treatment has not yet completely cured the disease. The clinical diagnosis and treatment of SIOD remains a challenge and needs further investigating.

Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R; c.1096T > G, p.F366V and c.4517T > C, p.L1506p), none of which have been previously reported. All patients presented with recurrent infections, growth retardation, and myelodys-plasia, with varying degrees of involvement of multiple systems, including respiratory, gastrointestinal, immune, endocrine, neurological, and reproductive systems. In terms of treatment, two patients underwent regular intravenous immunoglobulin and their clinical symptoms improved, while one patient had a favorable recovery following hematopoietic stem cell transplantation at the age of 1 year and 5 months of age. SAMD9/SAMD9L gene mutations, therefore, chould be considered in children with recurrent infections, myelodysplasia, pancytopenia, and growth retardation. Early genetic testing is crucial for timely diagnosis and treatment, which may improve patient outcomes.

Objective:To investigate the effect of mindfulness-based cognitive therapy (MBCT) on mindfulness attention awareness, experiential avoidance, and cognitive fusion in individuals with general anxiety disorder(GAD).Methods:A total of 53 patients aged 18-60 years who met the GAD diagnostic criteria of DSM-5 were selected from the Seventh People's Hospital of Hangzhou from May 2021 to September 2022.After receiving routine treatment, patients were randomly assigned to two groups: MBCT group( n=26) for an 8-week mindfulness cognitive therapy and health education group( n=27) for an 8-week health education program. Participants were evaluated using the generalized anxiety disorder scale(GAD-7), acceptance and action questionnaire-2nd edition(AAQ-Ⅱ), cognitive fusion questionnaire(CFQ), and mindful attention awareness scale (MAAS) before and after the intervention.Data were analyzed using SPSS 26.0 software, with the chi-square test, independent sample t-test, and paired sample t-test. Results:(1)There was no significant difference in MAAS score between the two groups before the intervention (42.63±10.18, 47.67±9.52, t=-1.55, P=0.13). However, after the intervention, the MAAS score in MBCT group was significantly higher than that in the health education group(54.42±9.87, 47.83±7.59, t=-2.27, P=0.03). (2) No significant difference was observed in CFQ score between the two groups before the intervention (57.11±15.97, 53.50±12.01, t=-0.77, P=0.45). However, after the intervention, the CFQ score in the MBCT group was significantly lower than that in the health education group(38.32±10.31, 47.11±10.66, t=-2.51, P<0.01). (3) There was no significant difference in AAQ-Ⅱ scores between the two groups before the intervention(33.79±7.90, 30.00±7.23, t=1.52, P=0.14). After the intervention, the AAQ-Ⅱ score in the MBCT group was significantly lower than that in the health education group(21.89±8.69, 30.22±8.68, t=-3.51, P<0.01) . Conclusion:MBCT has a positive effect on enhancing mindfulness attention awareness, reducing cognitive fusion, and mitigating experiential avoidance in GAD patients.

Primary immunodeficiency disease (PID) is a disease that seriously affects children′s life and health.Early identification and timely intervention can significantly improve prognosis.Some PIDs appear clinical warning symptoms in neonatal period, which help clinicians to carry out early recognition.However, there are still great challenges in early detection of PIDs.At present, there are PID screening methods based on dried blood spots, including TREC screening for SCID and other T lymphocytopenia diseases, KREC screening for XLA and other B-lymphocytopenia diseases, and multiplex protein profiling screening for complement and phagocyte deficiencies.With the development of gene sequencing, next generation sequencing(NGS) has a good prospect in the application of newborn PID screening.Therefore, it is urgent to establish screening process of Chinese newborn PID.This review elaborated on the progress of newborn PID screening.

Objective: To develop a native adaptive behavior scale for children with autism spectrum disorder(ASD) and to explore its reliability and validity. Methods: Items of ASD adaptive behavior rating scale were selected based on the scale development theory, ASD knowledge and adaptive behavior concept through preliminary survey and statistical, and 301 ASD children aged 2 to 12 from hospitals in Guangzhou, Huizhou, Shenzhen who met the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition were selected, data was analyzed by the item analysis. Results: After item analysis and exploratory factor analysis, the final version of the scale contains 58 items, and 64.24% of the total variation could be explained by 6 factors; The Cronbach’s α coefficient of the full scale was 0.98, and the coefficient value of dimen sional factors were 0.94，0.93，0.91，0.95，0.88，0.94. The test-test reliability r of full scale was 0.86, the r of the factor were 0.88，0.81，0.81，0.87，0.88，0.79. The criterion-related validity r with the ABAS-Ⅱ scale was -0.77, the criterion-related validity r with the CARS scale was 0.64. Conclusion The ASD Child Adaptive Behavior Scale showed good reliability and validity, and could be used widely.

Objective To investigate the clinical and laboratory diagnosis in a rare case with dwarifsm and multisystem abnormalities. Methods Whole-exome sequencing was performed and data was processed using high-throughput data analysis pipeline. Genetic test result is veriifed by Sanger sequencing. Results This is a 14-year-old boy with short stature (the height is 132 cm) and autoimmune hemolytic anemia. He was treated with long-term oral prednisone. Head CT from other hospital found multiple calciifcations on both sides of the basal ganglia, two sides of the frontal lobe, and the left side of parietal lobe. Lateral spinal X-ray photography showed lfat in thoracolumbar vertebral body. Valgus was surgically corrected. He also has facial pigmentation spot and onychomycosis. Whole-exome sequencing combined with Sanger sequencing identiifed a known homozygous pathogenic mutation in ACP 5 genes (c. 643 G>A, p.G 215 R). Identiifcation of such a mutation results in the diagnosis of spondylo enchondrody splasia with immune dysregulation (SPENCDI). Conclusions Whole-exome sequencing is one of the effective methods for detection of rare disease, the SPENCDI case reported here is a good example of it.

Objective To investigate the clinical manifestations in patients with 22q11.2 deletion syndrome (22q11.2DS) to improve the understanding of the disease.Methods Twenty patients with 22q11.2 DS were enrolled from Children's Hospital of Fudan University between August 2008 and April 2014.Cytogenetic and molecular genetic methods included fluorescence in situ hybridization (10 cases),and multiplex ligation-dependent probe amplification (10 cases).Age at the time of the diagnosis,sex and clinical manifestations were analyzed.Results The subject group consisted of 20 patients.Among them,13 cases (65％) were male and 7 cases (35％) were female.The median diagnostic age was 3.9 months.The presence of congenital heart diseases was identified in 17 patients (85％) and surgical correction was performed in 9 cases of them.The most frequent of complex congenital heart diseases were tetralogy of Fallot (20％) and pulmonary atresia (20％).Ten patients had varying degrees of T-cell immune function defects.Decrease in total lymphocytes and only CD8 counts were present in 45％ and 5％,respectively.Hypogammaglobulinemia was not detected in any patient.Six eases with T-cell immune function defects were treated with thymosin,4 of which were followed up for months,and the prognosis was good.Hypocalcemia was detected in 6 patients (30％),3 of whom presented with hypocalcemic seizures and hypoparathyroidism.Craniofacial dysmorphisms were detected in 3 patients(15％),2 of them only presented with micrognathia.Otorhinolaryngologic abnormalities were found in 4 cases (20％),3 of whom had laryngeal abnormalities,one of whom had cleft palate.Psychomotor developmental delay was found in 9 cases.Conclusions Congenital heart defects,hypocalcemia and/or impaired immune function are diagnostic features for 22q1 1.2 deletion syndrome,and they should be considered for cytogenetic analysis.

Objective To investigate the treatment and mechanism of aminoguanidine in retina of diabetic of rats .Methods To-tal 60 rats were divided into control group(n=20) ,diabetic group(n=20) and aminoguanidine treatment group(n=20)which would be treated by aminoguanidine for 14 days .Then the eye tissue of rats were took after 14 days administration for pathological obser-vation(HE staining) ,and the induced nitric oxide synthase(iNOS) ,endothelial nitric oxide synthase(eNOS) ,nerve type of nitric ox-ide synthase(nNOS) level and the expression of differences content and expression were investigated by ELISA ,Western blot and PT-PCR .Results HE staining showed that retinal tissue defects decreased and neuronal cells of rats in aminoguanidine treatment group were increased and significant (P<0 .05) compared rats in diabetic group .The iNOS content and expression of rats in amin-oguanidine treatment group were lower than diabetic group by ELISA ,Western blot and PT-PCR ,it was significantly difference (P<0 .05) and without significant difference between the normal group and diabetic group (P> 0 .05) .Compared with diabetes group ,iNOS ,eNOS ,nNOS protein expression in the rat retina in aminoguanidine treatment group were reduced (P< 0 .05) ,and without significant difference between the normal group and aminoguanidine treatment group (P>0 .05) .The iNOS mRNA expres-sion was lower than that of eNOS mRNA and nNOS mRNA in aminoguanidine treatment group .Conclusion Aminoguanidine can improve retinal tissue of diabetic rats with lesions ,the pathways may be selectively inhibit inducible nitric oxide synthase activity of iNOS .

Objective To assess the effect of case-based learning (CBL) in ophthalmology teaching.Methods Lecture based learning combined with CBL was applied in ophthalmology teaching for 19 undergraduates majored in clinical medicine of 2007 grade from Shanghai Jiao Tong University School of Medicine.Questionnaire survey was conducted for students after the course ended to understand their evaluation on CBL.Proportion of selected data was analyzed comparatively.Results 100％ (19/19) students believed that CBL was essential in ophthalmology teaching and rational at the end of course.84.2％ (16/19) students accounted that CBL could only be assistant teaching method.94.7％ (18/19) and 84.2％ (16/19) students considered that CBL was beneficial for cognition of eye diseases completely and clinical thinking formation.4-6 class hours for CBL were approved by 73.7％ (14/19) students.Conclusions CBL is essential in ophthalmology teaching and is accepted and supported by students,therefore it should be the main assistant teaching method.

OBJECTIVETo investigate gene expression profile in nasopharyngeaL carcinoma (NPC) cell lines with different metastatic potentialities, in order to identify new candidate genes related to the development, progress and metastasis of NPC.

METHODSThe mRNA expressions of high metastatic NPC cell line 5-8F, tumorigenic but nonmetastatic NPC cell line 6-10B and non-tumorigenic NPC cell line 13-9B (3 sublines of SUNE-1) were investigated by cDNA microarray containing 14 000 cDNA clones. The alterations in gene expression levels were confirmed by reverse-transcription PCR.

RESULTSThere were 82 differentially expressed genes comparing 5-8F and 13-9B; 38 differentially expressed genes comparing 6-10B and 13-9B; 54 comparing 5-8F and 6-10B. There were 12 common differentially expressed genes comparing 6-10B, 5-8F and 13-9B; 14 common differentially expressed genes comparing 5-8F and 13-9B, 6-10B. The expressions of the above genes were involved in metabolism, transcription, differentiation, apoptosis and signal transduction.

CONCLUSIONThe gene expression profile in nasopharyngeal carcinoma cell lines is an important index in the search of new candidate genes related to NPC.

Cell Line ; DNA, Complementary ; analysis ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Nasopharyngeal Neoplasms ; genetics ; pathology ; Neoplasm Metastasis ; genetics ; Oligonucleotide Array Sequence Analysis ; Tumor Cells, Cultured