Jansen-de Vries syndrome, also known as intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, is a rare autosomal dominant disorder characterized by multisystem involvement. This article reports the case of a young child who presented with global developmental delay, gastrointestinal dysfunction, intellectual disability, and short stature. Distinct facial features included a broad forehead, low nasal bridge, thin upper lip, and widely spaced and misaligned teeth. Additional phenotypic findings involved small hands and feet, as well as digital anomalies. Through whole-exome sequencing (WES) and copy number variation (CNV) analysis, a pathogenic variant was identified in the PPM1D gene: c.1281G > A (p.Trp427Ter). This report also reviews the current literature on the clinical characteristics, diagnostic approaches, and therapeutic advances related to this condition, aiming to provide valuable insights for its clinical diagnosis and management.

Objective To investigate the protective effect and mechanism of heat acclimation(HA)on electromagnetic field(EMF)induced hippocampus neuron injury in mice.Methods Forty healthy BALB/c male mice(18～22 g,7 weeks old)were randomly divided into 4 groups(n=10):Control group(Con),HA group(34℃,30 d),EMF group(2 450 MHz,20 min/d,4 weeks)and HA+EMF group(HA preconditioning+EMF).Sucrose preference test was performed to evaluate sucrose preference levels of mice in each group.Tail suspension test and forced swimming test were utilized to observe the immobility time.Morris water maze test was conducted to determine the learning and memory capabilities.Pathological changes in the hippocampus were observed with HE staining.Immunohistochemical assay for Iba1(marker of microglia),CD68(marker of pro-inflammatory phenotype)and CD206(marker of anti-inflammatory phenotype)were used to detect the number and activation phenotype of microglia in the hippocampus.ELISA was applied to measure the levels of TNF-α,IL-1β,TGF-β and IL-10 in the hippocampus of each group.Western blotting was performed to determine the protein levels of HSP70 in the hippocampus.Results As compared with the Con group,the EMF group showed a decreased preference for sucrose(P<0.05),prolonged immobile time in the tail suspension test(P<0.01)as well as in the forced swimming test(P<0.01),extented escape latency on the 7th day(P<0.01),and a decreased time of crossing the platform(P<0.05).EMF exposure resulted in that the hippocampal neurons were in disordered arrangement,loose structure and irregular morphology,with swollen cytoplasm and condensed nuclei,swollen and more microglial cells in the hippocampus(P<0.01),and enhanced relative fluorescence intensity of CD68(P<0.01),but not in CD206 fluorescence intensity(P=0.885).All these findings suggested that activated microglia predominantly exhibited a pro-inflammatory M1 phenotype during this phase.In the hippocampus,the levels of TNF-α and IL-1β were significantly increased,while the levels of IL-10 and TGF-β were significantly decreased(P<0.01).HA treatment reversed the conditions induced by EMF exposure,including better preference for sucrose(P<0.01),shorten immobile time in tail suspension test(P<0.05)and forced swimming test(P<0.01),less escape latency on the 7th day(P<0.01),and improved hippocampal cell injuries.Compared with the Con group,there were more microglial cells in the hippocampus in the HA+EMF group,with increased relative fluorescence intensity of M2 phenotype marker CD206(P<0.01)and decreased CD68 fluorescence intensity(P<0.01).HA treatment also significantly decreased the expression of TNF-α and IL-1β levels(P<0.01),increased the expression of IL-10 and TGF-β(P<0.01),and elevated the protein level of HSP70(P<0.01)when compared with the EMF group.Conclusion HA may ameliorate EMF-induced hippocampus neurons injury in mice by altering the phenotype of activated microglia and inhibiting inflammatory responses.

ObjectiveTo evaluate the efficacy and safety of transcutaneous electrical acupoint stimulation (TEAS) for muscle atrophy in patients with immobilization after surgical fixation of foot and ankle fractures.MethodsThis was a two-arm randomized controlled trial wherein 80 patients were recruited and divided into control (n = 40) and intervention (n = 40) groups. The control group received conventional orthopedic treatment, whereas the intervention group received TEAS and conventional treatment. The intervention group received TEAS 3 times a week for 30 min each time for 8 weeks. The primary outcomes were muscle thickness (MT) and cross-sectional area (CSA) of the rectus femoris and gastrocnemius muscles, whereas the secondary outcome measure was echo intensity (EI). Data were collected before the fixation operations (baseline assessment) and 4 and 8 weeks after intervention.ResultsCompared with baseline, the MT and CSA were reduced in both groups by the end of treatment, whereas EI increased in both groups. At week 4, the reduction in the rectus femoris CSA in the intervention group was significantly lower than that in the control group (P = .02); however, the between-group differences in the MT and EI (all P .05) were not significant. No serious adverse events were observed in either group.ConclusionOur study showed that TEAS can improve muscle atrophy by attenuating the decline in the muscle CSA. Because this was only a pilot trial, subsequent studies will need longer follow-ups and larger sample sizes.

Objective To investigate the effect of microglial derived extracellular vesicles on neuronal damage in the context of heat stress.Methods After BV2 microglial cells were exposed to heat stress,the supernatant was collected and subjected to ultracentrifugation at different speeds to obtain large and small vesicles,respectively.Nano Particle Tracking and Zeta Potential Distribution Analyzer was used to measure and analyze the size distribution of the large vesicles and small vesicles.Western blotting was used to detect the expression of specific vesicle surface markers,TSG101,CD63 and flotillin-1.Microglial extracellular vesicles were labeled with PKH67 dye and then co-cultured with N2a cells to examine the uptake by capacity the neurons.After large and small vesicles derived from microglia after heat stress stimulation were co-cultured with N2a cells,respectively,CCK-8 assay,lactate dehydrogenase (LDH)assay,Trypan blue staining and TUNEL assay were employed to evaluate heat stress induced neuronal damage.Results The small vesicles were in a particle size of 30～120 nm,and highly expressed TSG101 and CD63,whereas the large vesicles,in a size of 90～1000 nm,highly expressed flotillin-1.The BV2-derived extracellular vesicles could be taken up by N2a cells and were proved to be involved in the modulation of N2a cell injury caused by heat stress.CCK-8 assay showed that both large and small vesicles of microglial cells inhibited the viability of N2a cells after heat exposure (P<0.05).The results of LDH assay,Trypan blue staining and TUNEL assay showed that both large (P<0.05)and small vesicles (P<0.01)significantly enhanced the LDH release,blue stain intensity and apoptosis of N2a cells after heat exposure,and the release,intensity and apoptosis were stronger in the cells treated with small vesicles than those group of large vesicles.Conclusion Microglia aggravate heat stress-induced neuronal damage through releasing extracellular vesicles.

Objective:To investigate the application value of dual-source CT urography with stellar photon detectors in the diagnosis of gout.Methods:Forty patients who were diagnosed with gout according to American College of Rheumatology Guideline for the Diagnosis of Gout and received treatment between April 2018 and May 2020 were included in the observation group. Forty patients who were concurrently diagnosed with osteoarthritis and received treatment in the same hospital were included in the control group. All patients underwent dual-source CT urography with stellar photon detectors and corresponding biochemical index detection. Blood levels of uric acid, urea nitrogen, creatinine, total cholesterol, and triglyceride were compared between the observation and control groups.Results:Blood levels of uric acid, creatinine, urea nitrogen, total cholesterol, and triglyceride in the observation group were (519.38 ± 97.91) μmol/L, (110.21 ± 18.29) μmol/L, (12.21 ± 3.29) mmol/L, (6.49 ± 1.22) mmol/L, (3.45 ± 1.89) mmol/L, respectively, which were significantly higher than those in the control group (310.45 ± 61.40) μmol/L, (86.22 ± 13.12) μmol/L, (6.82 ± 1.75) mmol/L, (4.75 ± 0.56) mmol/L, (1.98 ± 0.85) mmol/L, respectively ( t = 11.43, 6.741, 9.148, 8.198, 4.486, all P < 0.05). Dual-source CT urography with stellar photon detectors revealed that urate crystals (color coded as green) were detected in 3 and 36 patients from the control and observation groups, respectively, with the detection rate of 7.5% (3/40) and 90% (36/40), respectively. There was significant difference in urate crystal detection rate between the observation and control groups ( χ2 = 24.993, P < 0.05). In the control group, no obvious destruction of bone, tendon and ligament were observed, urate deposition, total volume of (1.023 ± 0.83) cm 3, was found in feet and knee joint of a small number of patients. In the observation group, there were 30 patients with uric acid crystals and bone destruction in the metatarsophalangeal joint ( n = 6), distal tibia ( n = 7), distal fibula ( n = 3), proximal talus ( n = 4), proximal calcaneus ( n = 6), and wrist joint ( n = 4). There were 20 patients with ligament or tendon damage, involving deltoid ligament ( n = 2), Achilles tendon ( n = 10), and extensor and flexor tendon ( n = 53). Total volume of uric acid crystals was (32.22 ± 5.83) cm 3. The volume of uric acid crystals deposited in the hand, elbow, feet and knee was (8.00 ± 4.92) cm 3, (5.32 ± 2.75) cm 3, (36.00 ± 15.54) cm 3, and (13.31 ± 9.14) cm 3, respectively. Conclusion:Dual-source CT urography with stellar photon detectors has a high sensitivity in the diagnosis of gout, can accurately locate and quantify uric acid crystals and is of high application value in the diagnosis of gout.

Clinically, a large proportion of glaucoma patients undergo repeated intraocular pressure (IOP) spike (Spike IOP) attacks during their sleep, which may facilitate retinopathy. In this study, we established a mouse model of repeated transient Spike IOP to investigate the direct damage to the retina following Spike IOP attacks, and elucidated the underlying molecular mechanism. We analyzed the changes in the number of retinal ganglion cells (RGCs) via immunofluorescence. Thereafter, we detected retinal cell apoptosis via terminal deoxynucleotidyl transferase deoxyuridine triphosphate (dUTP) nick-end labeling (TUNEL) staining, and performed RNA sequencing (RNA-seq) to reveal the underlying molecular mechanism. Finally, we validated the expression of key molecules in the endoplasmic reticulum (ER) stress pathway using quantitative real-time polymerase chain reaction (qRT-PCR) and western blot analysis. Results revealed a time-dependent RGC loss in Spike IOP, evidenced by a reduction in the number of Brn3a-positive RGCs in experimental eyes following a 7-d continuous treatment with Spike IOP. In addition, TUNEL staining indicated that apoptosis of retinal cells started in the outer nuclear layer (ONL), and then spread to the ganglion cell layer (GCL) with time. RNA-seq analysis revealed that ER stress might be involved in Spike IOP-induced retinal injury. This result was corroborated by western blot, which revealed upregulation of ER stress-related proteins including binding immunoglobulin protein/glucose-regulated protein 78 (BiP/GRP78), phosphorylated inositol-requiring enzyme 1 (p-IRE1), unspliced X-box-binding protein 1 (XBP1-u), spliced X-box-binding protein 1 (XBP1-s), phosphorylated c-Jun N-terminal kinase (p-JNK), C/EBP-homologous protein (CHOP), and B-cell lymphoma 2 (Bcl-2)-associated X protein (Bax). These findings indicate that repeated IOP transients are detrimental to the retina, while ER stress plays an important role in retinal cell apoptosis in this situation. Notably, repeated Spike IOP among glaucoma patients is a crucial factor for progressive retinopathy.

Objective To evaluate the effect of TBL (team-based learning) method in pharmacology teaching for the foreign students of clinical medicine. Methods In the course of pharmacology teaching of the foreign students of clinical medicine, TBL method was performed in the 2012-year students and tradi-tional teaching method was performed in the 2011-year students. After the teaching, students' grades in the ordinary performance, their final exam scores and their evaluation of the two teaching methods were com-pared. Graph pad 5 was used to analyze the data and the t test was performed. Results The average ordi-nary performance of the students with TBL was significantly higher than that with the traditional teaching [(84.94 ±12.66) vs. (72.30 ±4.90), P=0.000] and the final examination scores were significantly im-proved [(74.00±6.76) vs. (69.00±6.20), P=0.023]. The survey showed students were more satisfied with the TBL teaching mode than traditional teaching mode [(8.40±0.71) vs. (7.12±1.07), P=0.000]. Conclusion TBL teach-ing mode can effectively improve the pharmacology teaching effect of foreign students.

Objective: To evaluate the impact of intracoronary administration of eptifibatide oncoronary no-reflow and myocardium perfusion in patients with ST-elevation myocardial infarction (STEMI) at percutaneous coronary intervention (PCI). Methods: A total of 80 STEMI patients with emergent PCI were randomly divided into 2 groups: Eptifibatide group, the patients received intracoronary administration of eptiifbatide and Control group, the patients received the same volume of normal saline.n=40 in each group. The baseline condition, post-operative vascular recanalization, changes of platelet aggression at pre- and post-medication were compared between 2 groups. Echocardiography was examined at immediately and 24 weeks after operation;myocardial infusion imaging was examined at l week after operation. All patients were followed-up for 24 weeks to observe the incidence of major adverse cardiovascular events (MACE). Results: Compared with Control group, Eptifibatide group showed increased ratios of post-operative TIMI grade 3 (72.5%vs 92.5%) and myocardium perfusion (70.0% vs 90.0%), bothP<0.05; decreased post-operative and 2h post-medicinal platelet aggression and they were both lower than Control group at the same period, allP<0.05. Eptiifbatide group had obviously improved LVEDD and LVEF at 24-week than 1-week after PCI and they were both superior to Control group, allP<0.05. There were 7 (17.5%) patients in Eptiifbatide group and 7 (7.5%) in Control group suffering from small bleeding events, P>0.05; no severe bleeding eventand no in-hospital thrombocytopeniaoccurred. MACE occurrence rates during 24-week follow-up period were 12.5% vs 22.5%, P>0.05. Conclusion: Intracoronary administration of eptiifbatide in STEMI patients at emergent PCI could effectively improve coronary blood lfow,increase myocardium perfusion and enhance cardiac function without severe bleeding events.

OBJECTIVETo investigate the clinical effect of modified Koyanagi technique with coverage by tunica vaginalis of testis in severe hypospadias.

METHODS49 cases with severe hypospadias treated from Jan. 2009 to Sep. 2011 were retrospectively studied. 25 patients underwent Koyanagi technique with coverage by tunica vaginalis of testis. 24 cases underwent one-stage Duplay + Duckett technique in the same term. The patients were followed up for 7-24 months.

RESULTSAmong the 25 children treated with Koyanagi procedure, 20 cases were cured, 5 patients had postoperative complications, including urethral fistula in 3 cases,urethral stenosis in 2 cases. At the same time, in the Duplay + Duckett group, 17 cases were cured, 7 children had postoperative complications, including urethral fistula in 4 cases, and urethral stenosis in 3 cases. All the patients with urethral fistula were repaired successfully 6 months after the first surgery; The urethral stenosis were cured by dilatation within 1 to 3 months. The successful rate in the 2 groups had no significant difference(P >0.05).

CONCLUSIONSKoyanagi technique with coverage by tunica vaginalis of testis is relatively simple with similar effect as Duplay + Duckett technique for severe hypospadias.

Child ; Child, Preschool ; Humans ; Hypospadias ; surgery ; Male ; Postoperative Complications ; etiology ; therapy ; Retrospective Studies ; Surgical Flaps ; transplantation ; Testis ; surgery ; Urethral Diseases ; etiology ; therapy ; Urethral Stricture ; etiology ; therapy ; Urinary Fistula ; etiology ; surgery

Objective:To determine the effects of Jinlong capsule combined with interventional therapy on the immune functions of primary hepatocellular carcinoma patients. Methods:Sixty randomly selected cases of clinically diagnosed primary hepatocellular carcinoma were divided into the observation group and the control group. Three days after operation, the observation group was given four Jinlong capsules three times a day for 30 days (one treatment). Meanwhile, the control group received interventional therapy after the operation. One to four days following one treatment, peripheral blood specimens were collected from the two groups to determine the cellular immune function indices. Results:The cell numbers (mean) of the peripheral blood components CD3, CD4, NK, SIL-2R, TSGF, and SIL-2R and the CD4/CD8 ratio in the observation group showed no significant difference before and after treatment. In the control group, these indices were significantly different before and after treatment. Conclusion:The Jinlong capsule facilitates the cellu-lar immunity recovery of patients with primary hepatocellular carcinoma after interventional therapy.