Neurofibromatosis type 1 (NF1) presents with a diverse range of symptoms that can affect the skin, bones, eyes, central nervous system, and other organs. This article reports the diagnosis and treatment process of a patient with NF1 complicated by bilateral severe-to-profound sensorineural hearing loss. Genetic testing revealed a heterozygous variant of NF1 NM_ 000267.3: c.4054_ 4058del(p.Ser1352LeufsTer20, supporting the diagnosis of NF1. After thorough evaluation, a right cochlear implantation was performed, yielding satisfactory postoperative results. This case suggests that NF1 patients may exhibit phenotypic heterogeneity and atypicality, providing a reference for clinicians in the diagnosis and treatment of such patients.

BACKGROUND: The available evidence regarding the benefits of percutaneous coronary intervention (PCI) on patients receiving dialysis with coronary artery disease (CAD) is limited and inconsistent. This study aimed to evaluate the association between PCI and clinical outcomes as compared with medical therapy alone in patients undergoing dialysis with CAD in China. METHODS: This multicenter, retrospective study was conducted in 30 tertiary medical centers across 12 provinces in China from January 2015 to June 2021 to include patients on dialysis with CAD. The primary outcome was major adverse cardiovascular events (MACE), defined as a composite of cardiovascular death, non-fatal myocardial infarction, and non-fatal stroke. Secondary outcomes included all-cause death, the individual components of MACE, and Bleeding Academic Research Consortium criteria types 2, 3, or 5 bleeding. Multivariable Cox proportional hazard models were used to assess the association between PCI and outcomes. Inverse probability of treatment weighting (IPTW) and propensity score matching (PSM) were performed to account for potential between-group differences. RESULTS: Of the 1146 patients on dialysis with significant CAD, 821 (71.6%) underwent PCI. After a median follow-up of 23.0 months, PCI was associated with a 43.0% significantly lower risk for MACE (33.9% [ n  = 278] vs . 43.7% [ n  = 142]; adjusted hazards ratio 0.57, 95% confidence interval 0.45-0.71), along with a slightly increased risk for bleeding outcomes that did not reach statistical significance (11.1% vs . 8.3%; adjusted hazards ratio 1.31, 95% confidence interval, 0.82-2.11). Furthermore, PCI was associated with a significant reduction in all-cause and cardiovascular mortalities. Subgroup analysis did not modify the association of PCI with patient outcomes. These primary findings were consistent across IPTW, PSM, and competing risk analyses. CONCLUSION This study indicated that PCI in patients on dialysis with CAD was significantly associated with lower MACE and mortality when comparing with those with medical therapy alone, albeit with a slightly increased risk for bleeding events that did not reach statistical significance.
Humans ; Percutaneous Coronary Intervention/methods* ; Male ; Female ; Coronary Artery Disease/drug therapy* ; Retrospective Studies ; Renal Dialysis/methods* ; Middle Aged ; Aged ; China ; Proportional Hazards Models ; Treatment Outcome

AIM:The paper is to explore a rapid and simple method for the culture of mouse primary thyroid cells.METHODS:Mouse thyroid cells were isolated by enzyme digestion and cultured with improved medium,and their morphology,characteristics and secretory function were observed within 14 d.RESULTS:In the cultures,the active pri-mary cells were obtained from the thyroid tissue after digestion for 25 min;adherent growth was observed on the 2nd day.And secondary follicles appeared from the 5th to 7th day.Over 95%cells were detected with thyroglobulin.The secretion of total triiodothyronine and total thyroxine maintains over 60%in 7 d.The expression levels of specific genes can still maintain more than 50%in 10 d.CONCLUSION:Mouse thyroid primary cells can be rapidly cultured by this method,and the cells can be used for studying thyroid endocrine secretion within 7 d and studying thyroid genes within 10 d.

Objective To evaluate the radiation dose and image quality of the third-generation dual-source CT using automated tube voltage adaptation (CARE kV) in temporal bone scanning in pediatric patients with hearing impairment. Methods Totally 27 children with hearing impairment less than 18 years old were randomly divided into two groups:Group A (n=14),examined with CARE kV (reference with 100 kV and 214 mA)and sinogram-affirmed iterative reconstruction;and Group B (n=13),examined with CARE kV (reference with 100 kV and 171 mA)and advanced modeled iterative reconstruction. The scan range was from eyebrow to the end of the mastoid process. CT values and image noise were measured.The signal to noise ratio (SNR)was calculated. Subjective image quality was assessed by two radiologists and later in a consensus reading. Results There was no significant difference in CT value,image noise,and SNR between these two groups (all P>0.05). Also,the subjective scores of the 10 anatomical structures showed no significant difference (all P>0.05). The CT dose index volume and dose-length product were (11.62+1.92)mGy and (106.92+37.48)mGy·cm,respectively,in group B and (21.28+2.19)mGy (t=12.15,P<0.001)and (229.65+56.26)mGy·cm (t=6.62,P<0.001)in group A,decreased by 45% and 53%. Conclusion Compared with the second-generation dual-source CT,the third-generation dual-source CT for the scanning of temporal bone with CARE kV can ensure image quality and reduce radiation dose.
Child ; Hearing Loss ; diagnosis ; Humans ; Radiation Dosage ; Radiographic Image Interpretation, Computer-Assisted ; Signal-To-Noise Ratio ; Temporal Bone ; diagnostic imaging ; Tomography, X-Ray Computed ; methods

Objective To investigate the image quality of head and neck CT angiography (CTA)using the third-generation dual-source CT combined with 70 kV tube voltage and 20-25 ml contrast medium (CM),and evaluate the effects of venous artifacts arising from the CM on the ipsilateral side of injection. Methods Totally 40 consecutive patients with suspected vascular diseases and body weight lower than 75 kg prospectively underwent head and neck CTA examination using the third-generation dual-source CT. CTA was performed with a third-generation dual-source CT system. Patients were randomly divived into 70 kV group (n=20)and 100 kV group (n=20). The 70 kV group used 20-25 ml CM and advanced modeled iterative reconstruction technique,and the 100 kV group used 40 ml CM and filtered back projection. Venous artifacts and CM residues were evaluated by a 3-point scale (1=excellent,3=poor),respectively. Results The effective dose of 70 kV group decreased 58% compared to 100 kV group (t=-18.14,P<0.001).In the 70 kV group,16 patients (80.0%)presented with venous artifacts and six of them (37.5%,6/16)affected the adjacent arteries. In the 100 kV group,19 patients (95.0%)presented with venous artifacts,and seven of them (36.8%,7/19)affected the adjacent arteries (Z=-0.878,P=0.380). In the 70 kV group,13 patients (65.0%)presented with obvious CM residues and two of them (15.3%,2/13)prolonged into the superior vena cava (SVC). In the 100 kV group,19 patients(95.0%)presented with obvious CM residues,and thirteen of them(68.4%,13/19)prolonged into the SVC (Z=-3.654,P<0.001). Conclusion Compared with the 100 kV,the third-generation dual-source CT for head and neck CTA,combined with 70 kV and 20-25 ml CM,can remarkably decrease the radiation dose,along with reduced CM residues and comparable venous artifacts.
Artifacts ; Body Weight ; Computed Tomography Angiography ; methods ; Contrast Media ; Head ; diagnostic imaging ; Humans ; Neck ; diagnostic imaging ; Radiation Dosage ; Radiographic Image Interpretation, Computer-Assisted

Objective To evaluate the application value of MSCT in preoperative diagnosis and postoperative evaluation in children with cavernous transformation of the portal vein (CTPV).Methods 11 children diagnosed with CTPV by surgery were included in this study in our hospital.All patients underwent both plain and enhanced MSCT scans before surgery,and ultrasound or MSCT scan after surgery.Results In all 11 cases,preoperative CT showed different degrees of splenomegaly and the plain CT showed abnormal soft tissue mass in the hepatic hilar area.Enhanced CT showed stenosis or occlusion of portal vein trunk,earthworm-like blood vessels in the hilar region,and that the left and/or right branch of intrahepatic portal vein were replaced by multiple densely-distributed blood vessels (typeⅡ). Superior mesenteric-intrahepatic left portal shunt (Rex surgery)was performed in all 11 cases with successful results.All patients were followed up for 2-20 months after surgery.Imaging examinations showed anastomotic patency in 9 cases and stenosis in 2 cases.Conclusion MSCT findings of CTPV in children have certain characteristics.MSCT plays an important role in preoperative diagnosis and postoperative evaluation of CTPV in children.

Objective: To explore the safety and validity of endoscopic cricopharyngeal myotomy in patients with cricopharyngeal achalasia. Methods: A total of 19 patients with cricopharyngeal achalasia suffered from sustained dysphagia were enrolled in this study. The patients were divided into transcervical cricopharyngeal myotomy(CPM) group and endoscopic CPM (ECPM) group. Swallowing function and complications were evaluated.SPSS7.0 software was used to analyze the data. Results: The swallowing function improved significantly in seven patients in ECPM group, and 9 patients improved in CPM group.The video fluoroscopic swallowing study(VFSS)-swallowing score, VFSS-aspiration score and drinking test score were (3.1±1.1), (3.4±0.8) and (2.0±0.6)in post-ECPM, (3.4±1.4), (3.0±0.9) and (2.2±0.6)in post-CPM. No statistical difference was found in validity between CPM group and ECPM group(t=-0.435, t=1.086, t=-0.607, P>0.05). No statistical difference was observed on the occurrence of complication between two groups. Only one patient had subcutaneous emphysema after operation in ECPM. Conclusions New surgical instruments and endoscopic surgical technique were safe and effective for cricopharyngeal achalasia. Because these instruments are cheaper, laryngeal endoscopic cricopharyngeal myotomy is easier to be popularized more easily than microscopic laser assistted CPM.

Objective To investigate the differences in clinical efficacy and safety between thrombolysis followed PCI (percutaneous coronary intervention) and primary PCI in patients with acute STEMI (ST elevation myocardial infarction). Methods A total of 215 STEMI patients who visit our clinic within 12 h since onset of their symptoms from May 2013 to January 2015 were enrolled. All eligible patients were divided into Early PCI group(n=68) and pPCI group (n=147) based on whether or not they received injection of recombinant human prourokinase thrombolytic therapy before their visit. Immediate TIMI (Thrombolysis In Myocardial Infarction) flow grade of infarct-related artery (IRA) before and after PCI treatment, post?operative CTFC (Corrected TIMI Frame Count) and TMPG (TIMI myocardial perfusion grade) were compared between these two groups. The incidence of bleeding during hospital stay , left ventricular function at 6 month after intervention and major adverse cardiac events (MACE) were all observed. Rusults There is no obvious difference between the baseline of two groups. Before PCI, the proportion of TIMI grade 2-3 was higher in Early PCI group (77.9%vs 20.4%,P<0.05)than that in pPCI group;but there was no significant difference in the proportion of TIMI grade 2-3 between these two groups after PCI (P>0.05). CTFC and peak value of serum CK-MB were lower [(27.7 ± 5.0) vs (32.6 ± 7.1), P<0.05;(225.8 ± 108.3) U/L vs (283.4 ± 110.6) U/L, P<0.05] and rate of TMPG 3 is higher (82.4%vs 68.7%, P<0.05)in Early PCI group than those in pPCI group. No significant difference was found in the incidence of bleeding and MACE during hospital stay and Left ventric?ular function at 6 months after operation between these two groups. By contrast, LVEFs were higher while LVEDds (LVED diameter) were lower after 3 and 6 months of the intervention compared to those before intervention in both groups (P <0.05). Conclusion It is a safe and effective reperfusion strategy for STEMI patients to receive rhPro-UK thrombolytic thera?py followed early PCI as an alternative way to those who failed to receive pPCI on time. It didn′t increase the occurrence of bleeding complications and MACE, and at the same time it presented the same benefit in improving recent cardiac function as pPCI did.

Objective To evaluate the treatment effect of compound Chinese medicine on skeletal fluorosis in rats by Micro-CT.Methods Eighty-eight Wistar rats which had been weaned for two weeks were divided into four groups according to body weight [(91.1 ± 10.0)g] by the method of random number table:control group(16 mts),middle fluorine(MF)group(24 rats),high fluorine(HF) group(24 rats),and high fluoride and low calcium low protein (HF-LC-LP) group (24 rats).The amounts of fluorine of MF,HF and HF-LC-LP groups were 50,100 and 100 mg/kg,respectively.The contents of calcium and protein in HF-LC-LP group were half of MF and HF groups.Six months after treatment with fluoride,eight rats of each group were put to death with femoral artery bleeding.The rest 16 rats of each fluorosis group were divided into two groups,one was the control group and the other was fed with both fluorine and the compound Chinese medicine which simulated the actual situation of fluorosis area.Each rat of the treatment group was given the medicine 194 mg/100 g for six days every week.Daily urine samples were collected when the medicine had been used for 0,30 and 60 days.All the rats were put to death with femoral artery bleeding after the medicine had beengiven for 90 days,and limbs bones were dissected.Urine fluoride was tested by the method of fluoride ion selective electrode ; bone fluoride was tested by the method of high temperature ashing-fluoride ion selective electrode; bone mineral density(BMD),tissue mineral density(TMD),structure model index (SMI),trabecular thickness (Tb.Th),trabecular separation (Tb.Sp),anisotropy (a1/a3),trabecular connection density(Conn.D),the volume ratio of trabecular and bone tissue,the ratio of bone surface area and volume(BS/BV),and trabecular number(Tb.N) were detected by Micro-CT technology.Results The level of urinary fluoride of high fluoride and low calcium low protein treatment group [(11.01 ± 3.67)mg/L] was lower than that of its control group [(34.32 ± 9.50)mg/L,t =3.13,P ＜ 0.05] when rats were remedied with the compound Chinese medicine for 60 days.The level of bone fluoride of high fluoride treatment group[(275.38 ± 171.65)mg/kg] was lower than that of its control group[(701.67 ± 178.16)mg/kg,t =5.42,P ＜ 0.05] when rats were remedied withy the compound Chinese medicine for 90 days; bone fluoride of high fluoride and low calcium low protein treatment group[(313.26 ± 124.51)mg/kg] was lower than that of its control group[(794.66 ± 261.35)mg/kg,t =3.25,P ＜ 0.05].The differences of Tb.Th,Tb.Sp,a1/a3,Conn.D,BV/TV,BS/BV and Tb.N among groups were statistically significant(F =2.785,2.681,3.039,27.231,2.595,2.854,5.050,all P ＜ 0.05).Tb.Th[(0.04 ±0.01)mm] and Tb.Sp[(0.03 ± 0.01)mm] of middle fluorine treatment group were higher than those of their control groups[(0.02 ± 0.00),(0.02 ± 0.00)mm,all P＜ 0.05]; al/a3,Corm.D,BV/TV and Tb.N[(0.77 ±0.61),(510.91 ± 304.99)mm-3,(0.42 ± 0.06) and (13.58 ± 2.48)mm-1] were lower than those of their control groups[(1.11 ± 0.01),(2 403.69 ± 124.02)mm-3,(0.46 ± 0.03) and (18.12 ± 0.69)mm-1,all P ＜ 0.05].BV/TV(0.44 ± 0.04) of high fluoride treatment group were lower than those of their control groups(0.49 ± 0.00,P ＜ 0.05) ; Tb.Th[(0.04 ± 0.01) mm] was higher than that of its control group [(0.03 ± 0.00)mm,P ＜ 0.05].Conclusion The compound Chinese medicine may has therapeutic effect on rat skeletal fluorosis.

This study was aimed to investigate the effects of Shen-Y uan Y i-Qi Huo-Xue (SYYQHX) capsule com-bined with early percutaneous coronary intervention (PCI) on near-term quality of life (QOL) in unstable angina (UA) patients. Seventy-eight patients diagnosed with UA were selected and randomly divided into the treatment group and control group, with 39 patients in each group. Early PCI was undergone after coronary angiography. Before PCI, the control group was given routine western medication. The treatment group was given routine western medication plus SYYQHX capsule, three pills once, three times daily. The treatment lasted for 30 days. The QOL scores were evalu-ated among patients from both groups before and after treatment in order to determine the efficacy on angina, electro-cardiogram (ECG) and traditional Chinese medicine (TCM) main symptom. The results showed that compared to pre-treatment, the scores of physical limitation (PL), angina stability (AS), angina frequency (AF), and treatment satisfac-tion ( TS ) were significantly increased after treatment ( P < 0 . 05 ) . Compared with the control group , after treat-ment with SYYQHX capsule, the AF, duration time and symptoms of palpitation, fatigue and shortness of breath were obviously improved (P< 0.05). The scores of AS, AF and TS in the treatment group were significantly increased (P < 0.05). It was concluded that SYYQHX capsule combined with early PCI can improve the near-term QOL and TCM main symptoms among UA patients.