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Objective:To analyze the clinical characteristics and molecular mechanisms of 5 cases of hypoparathyroidism caused by GATA3 gene mutation.Methods:A total of 5 childhood-onset hypoparathyroidism patients with GATA3 mutation were identified from 198 hypoparathyroidism (aged ≤18 years) from 1975 to 2021 in Peking Union Medical College Hospital. Clinical data and biochemical indices of the 5 patients were collected and analyzed retrospectively. Genetic screening was conducted by targeted next-generation sequencing (T-NGS), and bioinformatics analysis was performed to analyze the underline mechanisms.Results:The medium onset age of hypoparathyroidism of the 5 patients was 0.5 (0.1, 1.3) years old, and the time duration from onset to confirmed diagnosis of hypoparathyroidism and hypoparathyroidism- deafness-renal dysplasia syndrome was (7.0±5.2) years and (15.0±5.4) years, respectively. The clinical manifestations included carpopedal spasm accompanied by seizures (5 cases), basal ganglia calcification (5 cases), cataract (1 case), deafness (4 cases), and renal malformations or absence (2 cases). The blood calcium and blood parathormone(PTH) before treatment was (1.65±0.31) mmol/L and (4.64±2.63) ng/L, respectively. The 5 patients carried different heterozygous mutations in GATA3 gene, which caused nonsense mutations, frameshift mutations and splice site mutations, respectively. All the GATA3 gene mutations of the 5 patients are classified as pathogenic or likely pathogenic by the Clin Var database and American College of Medical Genetics and Genomics(ACMG).Conclusions:Attention should be paid to genetic diseases in patients with childhood-onset hypoparathyroidism. The possibility of hypoparathyroidism-deafness-renal dysplasia syndrome should be considered in hypoparathyroidism patients with hearing loss or renal dysplasia. GATA3 gene screening is highly recommended for the confirmation of the diagnosis.
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Objective:To explore the correlation between the number of sentinel regional lymph node (SALN) and non-sentinel regional lymph node (NSALN) metastasis in patients with early breast cancer after sentinel regional lymph node (SALN) biopsy.Methods:Retrospectively selected 400 female patients with early breast cancer who underwent SALN biopsy at the Department of Thyroid and Breast Surgery, Yijishan Hospital of Wannan Medical College from January 2016 to July 2021, and summarized and analyzed their clinical case data. The Chi-square test or Fisher exact probability method was used to compare the count data between groups. Perform single-factor analysis on the research indicators, then screen out indicators with statistically significant differences, then perform multi-factor Logistic regression analysis, draw a receiver operating characteristic curve, and combine the area under the curve to establish a predictive model.Results:SALN biopsy was performed in 400 patients with early breast cancer. A total of 1 504 lymph nodes were detected in 320 cases of total mastectomy, with an average of 4.7, 47 cases of macrometastasis, and 2 cases of postoperative macrometastasis. The false negative rate was 4.3%. Among 400 cases, 67 cases were positive for SALN, and the positive rate was 16.75% (67/400). The results of univariate analysis showed that the number of tumor thrombus in the vessel, the number of positive SALN and the metastasis of NSALN were closely related ( χ2=8.775, 16.53, P=0.003). The results of multivariate Logistic regression analysis showed that the number of tumor thrombi and SLN-positive ≥3 in the vessel were independent predictive risk factors for NSLN metastasis ( OR=16.149, 95% CI: 3.016-86.473, P<0.001; OR=31.76, 95% CI: 5.242-192.43, P<0.001). SALN positive was closely related to NSALN metastasis, but as the number of SALN detected increases (more than 6) and when only 1 to 2 SALN was positive, the probability of NSALN metastasis was significantly reduced ( P<0.05). Conclusions:The positive number of SALN and intravascular tumor thrombolus were closely related to NALN metastasis. SALN positive number ≥3 was the most important independent predictor of NSALN metastasis. The recurrence risk of sentinel lymph node can be reduced by increasing the number of SALN detected, when 1-2 positive sentinel lymph node are detected and the number of sentinel lymph node detected >6, axillary lymph node dissection can be exempted as appropriate.
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Objective@#To investigate the association of GNA11 gene polymorphisms with the risk of adult-onset non-surgical hypoparathyroidism (Ns-HypoPT).@*Methods@#Genotyping of GNA11 single nucleotide polymorphisms (SNPs) (rs28685098, rs4806907, rs11084997 and rs78003011) was carried out in 203 patients and 209 healthy participants by sequenom MassArray iPLEX System. These SNPs are located in promoter and 3′untranslated region (3′UTR) of GNA11 gene, respectively.@*Results@#Allele and genotype frequencies of rs11084997 in patients were significantly different from those of controls (genotype GG:60.5% vs. 49.8%, GC: 35.5% vs. 41.6%, CC: 4.0% vs. 8.6%, P=0.038; G allele 78.3% vs. 70.6%, C allele 21.7% vs. 29.4%, P=0.012), and the C allele of rs11084997 carriers had a lower risk to develops Ns-HypoPT in additive and dominant genetic models [OR=0.382 (0.160-0.915), 0.647 (0.437-0.957)]. CC-Haplotype formed by the minor alleles of rs4806907 and rs11084997 was associated with a decreased risk of Ns-HypoPT in additive, dominant and recessive genetic model [OR=0.317 (0.126-0.801), 0.640 (0.430-0.952), 0.367 (0.148-0.912)].@*Conclusion@#The minor allele C of rs11084997 in GNA11 gene promoter was associated with decreased risk of Ns-HypoPT in Chinese population.
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Objective:To investigate the association of GNA11 gene polymorphisms with the risk of adult-onset non-surgical hypoparathyroidism (Ns-HypoPT).Methods:Genotyping of GNA11 single nucleotide polymorphisms (SNPs) (rs28685098, rs4806907, rs11084997 and rs78003011) was carried out in 203 patients and 209 healthy participants by sequenom MassArray iPLEX System. These SNPs are located in promoter and 3′untranslated region (3′UTR) of GNA11 gene, respectively.Results:Allele and genotype frequencies of rs11084997 in patients were significantly different from those of controls (genotype GG:60.5% vs. 49.8%, GC: 35.5% vs. 41.6%, CC: 4.0% vs. 8.6%, P=0.038; G allele 78.3% vs. 70.6%, C allele 21.7% vs. 29.4%, P=0.012), and the C allele of rs11084997 carriers had a lower risk to develops Ns-HypoPT in additive and dominant genetic models [ OR=0.382 (0.160-0.915), 0.647 (0.437-0.957)]. CC-Haplotype formed by the minor alleles of rs4806907 and rs11084997 was associated with a decreased risk of Ns-HypoPT in additive, dominant and recessive genetic model [ OR=0.317 (0.126-0.801), 0.640 (0.430-0.952), 0.367 (0.148-0.912)]. Conclusion:The minor allele C of rs11084997 in GNA11 gene promoter was associated with decreased risk of Ns-HypoPT in Chinese population.
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Objective@#To investigate the effectiveness and safety of high-dose native vitamin D versus active vitamin D by retrospective analysis of clinical data in patients with non-surgical hypoparathyroidism (ns-HP) in our hospital.@*Methods@#ns-HP patients with stable therapeutic schedule in recent three years were included. According to the vitamin D agents used, patients were divided into three groups: active vitamin D group, native vitamin D group, and mixed vitamin D group. The effectiveness was evaluated by analysis of markers including post-treatment serum calcium, incidence of hypocalcemia, hypocalcemic symptoms and signs. The safety was evaluated in various groups by analyzing incidences of hypercalcemia and hypercalciuria, glomerular filtration rate, percentage of thiazide diuretic use, nephrocalcinosis or renal stone.@*Results@#Patients in active vitamin D group were more likely to experience episodes of hypocalcemia compared with those in native group (32.94%±21.46% vs 24.86%±10.1%, P<0.05). No significant differences in other indexes for assessing effectiveness and safety were found among three groups (P>0.05).@*Conclusions@#Under the circumstance of regular follow-up, both high-dose native vitamin D and active vitamin D could treat ns-HP effectively and safely. Native vitamin D may be better in maintaining eucalcemia and reducing incidence of hypocalcemia compared with active vitamin D.
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Objective To investigate the effectiveness and safety of high-dose native vitamin D versus active vitamin D by retrospective analysis of clinical data in patients with non-surgical hypoparathyroidism ( ns-HP) in our hospital. Methods ns-HP patients with stable therapeutic schedule in recent three years were included. According to the vitamin D agents used, patients were divided into three groups: active vitamin D group, native vitamin D group, and mixed vitamin D group. The effectiveness was evaluated by analysis of markers including post-treatment serum calcium, incidence of hypocalcemia, hypocalcemic symptoms and signs. The safety was evaluated in various groups by analyzing incidences of hypercalcemia and hypercalciuria, glomerular filtration rate, percentage of thiazide diuretic use, nephrocalcinosis or renal stone. Results Patients in active vitamin D group were more likely to experience episodes of hypocalcemia compared with those in native group (32.94% ± 21.46% vs 24.86% ± 10.1%, P＜0.05). No significant differences in other indexes for assessing effectiveness and safety were found among three groups ( P＞0.05). Conclusions Under the circumstance of regular follow-up, both high-dose native vitamin D and active vitamin D could treat ns-HP effectively and safely. Native vitamin D may be better in maintaining eucalcemia and reducing incidence of hypocalcemia compared with active vitamin D.
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Objective To explore the quality of life ( QoL ) and muscle strength in patients with pseudohypoparathyroidism ( PHP ) under regular treatment. Methods Twenty-three patients with PHP regularly followed at Peking Union Medical College Hospital from June 2017 to June 2018 were included. Age- and gender-matched 23 patients with nonsurgical hypoparathyroidism ( nHPT) and 23 healthy controls were also included. Short Form 36 Health Survey questionnaire version 2 ( SF36v2) were used to evaluate the QoL. Grip strength and repeated chair stand ( RCS) were used to assess muscle strength for upper and lower limbs respectively. Results Except for physical functioning, patients of PHP group had reduced scores in all other subdomains of SF36v2 compared to healthy controls ( P<0.05) . Comparing to nHPT patients, PHP patients had a higher score in social functioning, while no difference was found in other subdomains of SF36v2. Grip strength and RCS tests were similar in PHP patients and healthy controls. Conclusions Comparing to healthy controls, patients with PHP still had impaired QoL despite regular management, no significant difference of upper and lower limb muscle strength was found between PHP group and healthy controls.
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Objective To investigate the feasibility and safety of endovascular recanalization of chronic occlusion of large intracranial artery.Methods From January 2009 to January 2017,the clinical and imaging data of 15 patients with chronic occlusion of large intracranial artery admitted to the Department of Interventional Neuroradiology,Xuanwu Hospital,Capital Medical University for endovascular recanalization were analyzed retrospectively.Twelve patients were V4 segment occlusion of vertebral artery and 3 were internal carotid artery occlusion.Preoperative whole brain digital subtraction angiography (DSA) was used to assess the occlusion length and location.High-resolution magnetic resonance imaging (MRI) was used to evaluate the nature of occlusion and the feasibility of recanalization.The intraoperative bilateral femoral artery sheath placement was conducted in 13 cases,one side was used for recanalization and stenting,and the other side was compensated by filling the distal occlusion of the artery through collateral circulation as the reference path map,and increased the feasibility of recanalization.According to the thrombolysis in cerebral infarction (TICI) grades after procedure,the forward flow after recanalization was systematically evaluated,and grade ≥2b was defined as the success of recanalization.Results The median time between the first onset of symptoms and recanalization was 50 (range,18-365) days.The occluded recanalization sites included intracranial segment of vertebral artery in 12 cases and intracranial segment of internal carotid artery in 3 cases.Recanalization was successful in 13 cases and recanalization failure of the intracranial segment of vertebral artery was in 2 cases.Recanalization was successful in 13 cases,and intracranial vertebral artery recanalization failed in 2 cases.Of the 13 patients of successful recanalization,the forward flow of angiography returned to grade TICI 3 in 12 cases after recanalization,and returned to TICI 2b in 1 case;the symptoms of 7 cases were improved,the symptoms of 4 cases did not have any change,and the symptoms of 2 patients aggravated after procedure and developed transient ischemic attack or stroke.After 11 patients were followed up for a median of 39 (3-89) months,the median mRS score was 1 (0-2).Conclusion For recanalization of chronic large intracranial artery occlusion,using preoperative high-resolution magnetic resonance imaging evaluation and intraoperative bilateral sheath placement technique may increase the patency rate and reduce the perioperative complications.
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Objective To evaluate the imaging changes of the arterial wall and lumen at the site of intracranial large artery lesions with high-resolution magnetic resonance imaging (HR-MRI) before and after Wingspan stent implantation.Methods From December 2013 to December 2014,9 patients with symptomatic intracranial arterial stenosis (stenosis rate:70%-99%) admitted to the Department of Interventional Neuroradiology,Xuanwu Hospital,Capital Medical University were enrolled retrospectively.The sites of the lesions included middle cerebral arteries,basilar artery,and intracranial segment of vertebral artery.Head 3D HR-MRI technique was used to analyze and compare the changes of the tube-wall enhancement areas in the lesion sites through image registration and matching.The consistency of stenosis rates measured by HR-MRI and DSA was compared through Pearson correlation analysis and Bland-Altman Plot.Results The success rate of technique was 100% without related complications.(1) After Wingspan stent implantation,the gadolinium enhancement in the vascular walls of the stenosis sites was decreased significantly compared with that before procedure.The area of enhancement decreased was 87±16% after stent implantation compared with before implantation,and the difference was statistically significant (t=2.325,P=0.049).(2) Before stent implantation,the mean stenosis rates of the HR-MRI and DSA measurements were 82±6% and 82±8% respectively,and the difference was not statistically significant (t=0.051,P=0.961);after procedure,the mean stenosis rates of HR-MRI and DSA measurements were 16±12% and 21±12% respectively,and the difference was not statistically significant (t=1.345,P=0.216).(3) The Pearson correlation coefficients of HR-MRI and DSA for stenosis rate measurement before and after stent implantation were 0.347 (P=0.361) and 0.545 (P=0.129) respectively.Bland-Altman statistical images showed that most of the data points were within the consistency limit (x-±1.96 s).Conclusions As an in vivo noninvasive imaging means,HR-MRI can be used to assess the changes of vascular walls of the lesion sites,the vascular lumen,and the original plaques after the intracranial stent release.It can also be used to evaluate the reconstruction of intracranial arterial walls.
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Objective To evaluate the terminal segment of the intracranial vertebral artery (tICVA) fine and atherosclerotic lesions using high-resolution MRI (HRMRI) in order to guide endovascular interventional therapy.Methods From October 2015 to October 2016,4 patients with bilateral tICVA diagnosed with digital subtraction angiography (DSA) and admitted to Xuanwu Hospital,Capital Medical University were analyzed retrospectively.At the same time,time of flight (TOF) and black blood imaging were used.The bilateral tICVA imaging features in 4 patients were analyzed.Congenital dysplasia of vertebral artery and atherosclerotic lesions were identified.Results DSA revealed that bilateral tICVA fine or occlusion.HRMRI evaluation of the vascular wall structure showed that vascular dysplasia in 4 cases were all located on the right sides,showing no obvious thickening of the wall thickness,and the diameter was less than 1/2 of the contralateral side.One patient had atherosclerotic stenosis on the left and 3 had occlusion,showing local wall thickening,plaque formation,and resulting in the narrowing of the corresponding lumen and even occlusion.Three of the patients were treated with endovascular intervention.Conclusion HRMRI is helpful to differentiate hypoplasia in terminal intracranial vertebral artery and atherosclerotic stenosis or occlusion,identifying the dominant side of the vertebral artery and providing image basis for endovascular treatment of vertebral artery.
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Objective To study the correlations between DLN and clinical pathological factors and provide clinical data for assessing the operation scopes and prognostic evaluations aims at further clarify its clinical values.Methods The research aimed at the 69 cases who undertook first-time surgery and confirmed thyroid papillary carcinoma by intraoperative frozen pathology from 2013 to 2014 in Wannan Medical college affiliated Yijishan Hospital.The groups was divided by whether the DLN had been detected and metastasized.And we made chi-square test or t test by using SPSS 22.0 to analysis between the clinical and pathological factors.Results The groups was divided by whether DLN had been metastasized from the detected cases and the results shown that there was no relationship with gender,age,tumor size,Hashimoto's thyroiditis and the number of COLN (which not including DLN).For multifocal cases (21.05％ vs 57.14％,P =0.047);for vascular infiltration,the positive cases of (10.53％ vs 71.43％,P＜0.001);for the metastasized rate of COLN,the positive cases of (65.79％ vs 14.29％,P =0.011);for the metastasized number of COLN,[(0.84 ± 1.48) vs (3.86 ± 3.08),P ＜ 0.001].All the data above illustrated that the two groups are statistically correlative in mulifocality,vascular infiltration,the metastasized rate of COLN and for the metastasized number of COLN.17.39％ of PTC cases can be detected by CD34 and D2-40.According to the presence of vascular infiltration,it can be divided into two groups,We contrast analyzed of the number of TCLN (include DLN),metastasized number of TCLN and the metastasized rate of TCLN.The results shown that the number of TCLN had no statistical differences,but significant in metastasized number of TCLN [(0.74 ± 1.83) vs (4.50 ± 2.20),P ＜ 0.001) and the metastasized rate of TCLN (29.82％ vs 100.00％,P ＜ 0.01)].Conclusions The DLN positive patients are more likely to have distant lymph node metastasized.If DLN positive,total thyroidectomy and bilateral central compartment neck dissection (CCND) has been necessary.Lateral selective neck node dissection (LSND) can be underwent after evaluating carefully combining with the history and preoperative images.CD34 and D2-40 could be the detection indexes of vascular infiltration for PTC.For the cases with vascular infiltration,it has a higher proportion to have the metastasized number and metastasized rate of TCLN and higher possibility of distant metastasis.So we should expand the scope of operation moderately and strengthen postoperative follow-up according to the history and preoperative images so as to reduce postoperative recurrence,distant metastasis rate and improve the living quality of patients.
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Objective To investigate the in-stent restenosis after vertebral artery ostium stenting (VAOS),and to determine the risk factors for in-stent restenosis. Methods Respective analysis of clinical data of 775 cases received VAOS in Xuan Wu Hospital of Capital Medical University from Jan. 2006 to Dec. 2012. Severe stenosis of vertebral artery ostium were diagnosed by DSA,and followed-up by ultrasound. The risk factors were assessed by COX analysis for in-stent restenosis ≥50%. Results This study included 775 patients. Surgical success rate was 99. 87%(n=774),technique success rate was 99. 48%(n=771 ). Two patients had cerebral hemorrhage after operation,one of them was dead. Four patients had cerebral infarction. The mean follow-up period was 12 months. The restenosis rate was 35. 89%(234/652 ). 79. 91% of restenosis occurred within 12 months after operation. COX analysis showed the vessels diameter after stenting was the independent predictors of in-stent restenosis (P<0. 01). The in-stent restenosis rate of drug-eluting stents was lower than metal-bare stents (HR 0. 532,95%CI 0. 397-0. 713,P<0. 01). Conclusion The in-stent restenosis was peculiarly prone to the smaller vessels diameter after VAOS. Drug-eluting stents were superior to metal-bare stents in preventing in-stent restenosis.
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Delphian lymph node is a part of Ⅵlymph node.According to the latest research ,the metasta-sis rate in papillary thyroid carcinoma ( PTC) is up to nearly 20%.Meanwhile ,the Ⅵlymph node is usually con-sidered as the sentinel lymph node of PTC metastasis .Most scholars believe that .Delphian lymph nodes may have certain clinical significance in the development process of PTC .This article aims to summarize the research pro-gress in clinical relations between the Delphian node and papillary thyroid carcinoma .
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Objectives To analyze the incidence of cranial nerve injury in patients after receiving carotid endarterectomy ( CEA) in a single-center and to investigate its correlation with surgical experiences. Methods The clinical data of patients underwent CEA at Beijing Xuanwu Hospital, Capital Medical University from January. 2001 to December 2013 were analyzed retrospectively. Cranial nerve injury was assessed at day 7 after procedure according to the clinical symptoms,and they were followed up at 1,3,6, and 12 months. The incidence of permanent cranial nerve injury was evaluated. The incidences of permanent cranial nerve injury were further analyzed at two time periods ( from January 2001 to September 2011 and from October 2011 to December 2013 ) . Results ( 1 ) A total of 598 consecutive patients treated with CEA were enrolled,and 15 (2. 5%) of them had cranial nerve injury,including 2 (0. 3%) facial nerve injury,7 (1. 2%) hypoglossal nerve injury,and 6 (1. 0%) vagus nerve injury. Only 1 case (0. 2%) did not recover completely at 6 months after procedure. ( 2 ) The patients with cranial nerve injury were 10 (3. 2%,10/308) and 5 (1. 7%,5/290) respectively from January 2001 to September 2011 and from October 2011 to December 2013). There was no significant difference (P < 0. 05). Conclusion The incidence of cranial nerve injury was low after CEA,and most patients could recover completely. The increased surgical experiences did not show the reduction of cranial nerve injury rate evidently after CEA.
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Objective To analysis the application value and the existing problems of sentinel lymph node biopsy in breast cancer surgery.Methods Pathological findings were retrospectively analysised in 100 female cases of breast cancer,who were diagnosed with early breast cancer and used blue dye in sentinel lymph node biopsy.Results Among 100 cases,92 cases were found SLNS,that the detected rate was 92％.Detected 217 sentinel lymph node,every case has 1 to 6 node,with the average of 2.4.Nintg-two cases were performed ALND.Among them,the SLNS negative detected 58 cases of ALN feminine,SLNS negative ALN detected positive 4 cases,30 cases of SLNS positive ALN positive detected.All of the patients did not appear allergic reaction.SLNB false positive rate of O,the false negative rate was 11.8％,sensitivity 88.3％,specific degree of 100％,the diagnostic coincidence rate was 95.7％.Conclusions Compared with the conventional axillary lymph node dissection,the sentinel lymph node biopsy has obvious advantages in early breast cancer surgery.For the cases of sentinel lymph node negative,there was no necessary to do the axillary lymph node dissection.
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Objective To study the effect of 17-β estradiol on Collagen Ⅰ,lysyl oxidase like 1 (LOXL1),fibrinectin( FN )after stretch in the pelvic function dysfunction(PFD) patients vaginal wall fibroblasts cultured in vitro,and the effect in PFD pathogenesis.Methods Twelve patients with pelvic function dysfunction who under surgery in the second Hospital,Hebei Medical University from October 2009 to September 2010 were collected vaginal wall organization in this study.Use of tissue and collagenase digestion method for primary culture in the vaginal wall fibroblasts.After stretch with different concentrations of 17-β estradiol cultured fibroblasts.Total mRNA was extracted from fibroblasts and gene expression of Col Ⅰ,LOXL1,FN were measured.Results After stretch,the expression of Col Ⅰ ( 1.1872 ± 0.0733 vs 1.5035 ±0.0733,t =-4.815,P ＜0.01),LOXLI(0.7724 ±0.1873 vs 1.0855 ±0.0805,t =-5.111,P ＜0.01 ) were significant higher than before( P ＜0.01 ),the expression of FN (0.4290 ±0.1168 vs 0.4215±0.0830) was not significantly different ( P ＞0.05).The expression of all factor Col [ (3.0809 ±0.1862),LOXLI ( 1.5863 ±0.3241 ),FN( 1.1418 ± 1.0030) in high drug concentrations of 17-β estradiol were increased significant compared with controlled groups( P ＜ 0.01 ).Conclusions 17-β estradiol increased synthesis of extracellular matrix components from cultured vaginal wall fibroblasts of patient with pelvic floor dysfunction after stretch.Stretch and estrogen may play an important role in PFD pathogenesis.
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Objective To evaluate the value of extended latissimus dorsi flap (ELDF) in immediate breast reconstruction in patients with breast cancer after modified radical mastectomy.Methods Thirty-six patients with breast cancer who accepted modified radical mastectomy and 12 patients with breast cancer who accepted immediate breast reconstruction after modified radical mastectomy from January 2008 to June 2009 were included.The complications,cosmetical results and quality of life of these patients were compared.The shape of breast reconstruction was also evaluated.Results All of 12 patients succeeded in proceeding immediate breast reconstruction with ELDF.The evaluation of shape of breast reconstruction was good in 6 cases,secondary in 4 cases,and bad in 2 cases,which was beyond that in patients of radical operation group (P0.05).The patients in breast reconstruction group had a better quality of life compared with the patients in radical operation group (P