Objective:To retrospectively analyze the clinical characteristics of 193 Chinese patients with McCune-Albright syndrome (MAS).Methods:By using keywords " McCune-Albright syndrome", " Albright syndrome", or " fibrous dysplasia " as the search terms, 193 cases of MAS reported in China from January 1990 to November 2022 from the Wanfang data, CNKI, VIP, PubMed, and Embase databases were obtained, and their clinical data was retrospectively analyzed. Intergroup comparisons were carried out by using t test, Mann-Whitney U test, and χ2 test. Results:The 193 MAS patients had included 42 males and 151 females, with the median first-visit age of females being younger than males. The typical triad group had accounted for 46.1% of patients, and the middle first-visit and diagnosis age was younger than the atypical group. The primary reason for first-visit in males of MAS was fibrous dysplasia (FD), whilst that in females of MAS was peripheral precocious puberty (PPP). FD has occurred in 84.5% of the patients, with an average age of onset age being 6.1 years old, and 90% was ≤ 16 years of age. Endocrine hyperfunction was found in 79.3% of the patients, with a higher proportion in females compared with males ( P<0.05). Pituitary involvement was seen in 21.8% of the patients, and the incidence of craniofacial FD and cranial nerve compression was significantly higher in those with elevated growth hormone (GH) than without ( P<0.05). Café-au-Lait Spots were noted in 86.5% of the patients, and 28.3% (28/99) had located on the different side of FD. Conclusion:Most MAS patients had atypical manifestations and multi-systemic involvement. It is more common and occurs earlier in females. The most common reasons for initial diagnosis in male and female patients were FD and PPP, respectively. Patients with elevated GH should be examined for cranial nerve compression.

Objective To investigate and validate the expression profiles of Ppp3cb and Ppm1g through differential proteomic analysis of hippocampal tissue in NHE1 gene knockout mice with proteomic analysis.Method ① Six 2-week-old NHE1 knockout mice were selected as the model group,and 6 wild-type mice of the same age served as the control group,and their genotypes were detected by agar-gel electrophoresis.Open field test and forced swimming test were used to evaluate the behaviors of mice in the model group and control group,and epileptic seizure was graded according to Racine scoring.② Tandem mass spectrometry was employed to screen the differential proteins in the hippocampus tissues from the model group and the control group.Then the obtained differential proteins were annotated and enriched in the Gene Ontology(GO)database.Search tool for the retrieval of interesting genes(STRING)database was used to analyze protein-protein interaction(PPI)among different proteins.③ The transcriptional and translational levels of Ppp3cb and Ppm1g were detected by qPCR and Western blotting,respectively,and their expression levels in the tissues were observed with immunohistochemistry.Results ① NHE1 was not expressed in the model group.The mice of the model group had shorter total movement distance(P=0.007 3)and less crossing cells(P＜0.000 1)in open field test,and longer period of immobility in forced swimming test(P＜0.000 1)when compared with those from the control group.② When fold change ≥1.2 times and P＜0.05 were set as the significant threshold for differential expression,845 differentially expressed protein sites were detected in the hippocampus,among which 9 proteins(including Ppm1g)were up-regulated and 7 ones(including Ppp3cb)were down-regulated.Gene Ontology(GO)functional analysis showed that after NHE1 knockout,the most significant differences were observed in the concentration of molecular function(MF)related to protein serine/threonine phosphatase activity,concentration of cellular component(CC)related to the plasma membrane,and concentration of biological process(BP)related to negative regulation of biological processes and immune system processes.STRING analysis indicated that the differential proteins Ppp3cb and Slc9a1 directly acted,Ppm1g indirectly acted through Ppp3cb and Slc9a1,and Ppp3cb and Ppm1g interacted.③The transcriptional and translational levels of Ppp3cb were decreased,and its expression level was reduced in the tissues,while those of Ppm1g were increased,and its expression was elevated in the tissues(P＜0.05).Conclusion In the hippocampus of NHE1 gene knockout mice,the expression of differential protein Ppp3cb is down-regulated and that of Ppm1g is up-regulated,which provide a basis for further study on their involvement in the pathogenesis of epilepsy.

At present,in medical academic circle there is no consensus on the optimal diameter of the stent used in transjugular intrahepatic portosystemic shunt(TIPS).In 2021,the Advancing Liver Therapeutic Approaches Consortium(ALTAC)recommended the use of controllable diameter TIPS covered stent system in the performance of TIPS,the stent diameter of this system can be adjusted within the range of 8 mm to 10 mm,and its stability can be maintained for a long time.This system carries several advantages such as accurately regulating portal venous pressure gradient(PPG),optimizing hemodynamic target,protecting liver blood perfusion,reducing shunt-related complications,etc.,indicating that this system has a promising clinical application prospect.Through reviewing the relevant literature,this paper summarizes the research progress of controllable diameter TIPS covered stent system,aiming to better help clinicians engaged in related fields to gain a further understanding of this new technology.

Objective:To investigate the diagnostic value of serum Aspergillus fumigatus immunoglobulin G (IgG), bronchoalveolar lavage fluid (BALF) galactomannan antigen test (GM test) and combined detection of the two methods in chronic pulmonary aspergillosis (CPA). Methods:A total of 310 patients with suspected CPA who were hospitalized in Wuhan Pulmonary Hospital from January 2020 to December 2022 were screened. BALF-GM test and serum Aspergillus fumigatus IgG were detected. According to the inclusion and exclusion criteria, 151 confirmed or clinically diagnosed CPA patients were enrolled and 60 non-CPA cases were included as controls. The underlying diseases, clinical symptoms and imaging findings of the two groups were analyzed using case-control study. Statistical comparison was performed by chi-square test. The efficacies of BALF-GM test, serum Aspergillus fumigatus IgG test, and their combined detection for CPA were analyzed by receiver operating characteristic curve. Results:There were 130 confirmed cases and 21 clinically diagnosed cases among 151 patients with CPA, including 106 males (70.2%) with age of (54.6±15.5) years. The age of 60 non-CPA patients was (53.6±17.8) years, including 42 males (70.0%). The proportions of pulmonary tuberculosis, bronchiectasis and chronic obstructive pulmonary disease, and the incidence of hemoptysis in CPA group were 79.47%(120/151), 86.09%(130/151), 26.49%(40/151) and 43.71%(66/151), respectively, which were all higher than those in non-CPA group (10.00%(6/60), 25.00%(15/60), 8.33%(5/60) and 11.67%(7/60), respectively), and the differences were statistically significant ( χ2=86.14, 74.56, 8.44 and 19.48, respectively, all P<0.05). The proportion of interstitial lung disease in non-CPA group was 28.33%(17/60), which was higher than that in CPA group (2.65%, 4/151), and the difference was statistically significant ( χ2=31.61, P<0.001). The common imaging findings of CPA patients were pulmonary cavity (70.86%, 107/151), cavity inclusions (41.72%, 63/151) and lung damage (33.77%, 51/151). The specificity and sensitivity of serum Aspergillus fumigatus IgG for CPA diagnosis were 81.7% and 68.9%, respectively, and the area under the curve (AUC) was 0.753 (95% confidence interval (95% CI) 0.681 to 0.825, P< 0.001). The specificity and sensitivity of BALF-GM test were 76.7% and 67.5%, respectively, and the AUC was 0.724 (95% CI 0.649 to 0.800, P<0.001). The specificity and sensitivity of the two methods in series combined detection were 95.0% and 44.4%, respectively, and those of the two methods in parallel detection were 60.3% and 94.5%, respectively. The AUC of the combined diagnosis of CPA by the two methods was 0.843 (95% CI 0.783 to 0.903, P<0.001). Conclusions:Serum Aspergillus fumigatus IgG combined with BALF-GM test has a good diagnostic efficacy for CPA. The detection of serum Aspergillus fumigatus IgG is non-invasive and highly specific, which is beneficial to the early diagnosis and treatment of CPA.

Idiopathic short stature(ISS)is a group of short stature with unclear etiology and pathogenesis, of which the cause is heterogeneous and complex, primarily due to a combination of genetic and environmental factors.ISS is generally exclusionary diagnosis due to the lack of specific symptoms, signs and biomarkers.Recently, with the development of various high-throughput detection technologies, the study of transcriptomics, proteomics, metabolomics, and microbiomics related to ISS has gradually become a hot topic, providing new ideas for elucidating the etiology, making an early diagnosis, and guiding treatment of ISS.In this paper, advances in the pathogenesis and early diagnosis of ISS by biomarkers associated with multi-omics are reviewed.

China/epidemiology* ; Humans ; Pemphigoid, Bullous/epidemiology* ; Retrospective Studies

ObjectiveTo investigate the protective effect of hepatocyte growth-promoting factor (PHGF) against liver ischemia-reperfusion injury in rats and its mechanism of its action. MethodsA total of 80 healthy male Sprague-Dawley rats were randomly divided into experimental group (PHGF group) and control group (NS group), with 40 rats in each group. A rat model of liver ischemia-reperfusion injury was established by 70% liver ischemia caused by the occlusion of blood flow in the middle and left lobes of the liver, with an ischemia time of 21 minutes. The rats in the PHGF group were given intraperitoneal injection of PHGF for intervention before surgery, and those in the NS group were given an equal volume of normal saline. Serum and liver tissue samples were collected before surgery and on days 1, 3, 5, and 7 after surgery, and the levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), and total bilirubin (TBil) were measured; HE staining was used to observe pathological changes; real-time PCR was used to measure the mRNA expression of mitochondrial transcription factor A (TFAM) in the liver. The independent samples t-test was used for comparison of continuous data between two groups. ResultsHE staining showed that compared with the NS group, the PHGF group had significantly lower degrees of hepatocyte swelling, inflammatory cell infiltration, and hepatocyte necrosis under a light microscope. Liver biochemistry showed that on days 1, 3, 5, and 7 after surgery, the PHGF group had significantly lower serum levels of ALT, AST, and TBil than the NS group (t=11.879, 16.019, 22168, 10.235, 9.041, 12.936, 18.759, 8.142, 10.108, 11.014, 13.245, and 9.968, all P＜0.001). Real-time PCR showed that on days 1, 3, and 5 after surgery, the PHGF group had a significantly higher mRNA level of TFAM in the liver than the NS group (t=7998, 14.764, and 13.861, all P＜0.001). ConclusionPHGF preconditioning exerts a protective effect against liver ischemia-reperfusion injury in rats, possibly by upregulating the expression of TFAM to alleviate liver ischemia-reperfusion injury.

Objective: To explore the clinical application value of enhanced recovery after surgery (ERAS) in the laparoscopic surgery for cholecystolithiasis comorbid with choledocholithiasis. Methods: The prospective study was conducted. The clinicopathological data of 52 patients with cholecystolithiasis comorbid with choledocholithiasis who were admitted to the Third Affiliated Hospital of Zunyi Medical University from September 2016 to September 2018 were collected. Patients were divided into 2 groups by random number table: patients in observation group received laparoscopic cholecystectomy + choledocholithotomy + choledochoscopic exploration + T-tube drainage (or primary suture of common bile duct) and perioperative management guided by the concept of enhanced recovery after surgery (ERAS), and patients in control group received traditional perioperative management. Observation indicators: (1) surgical situations; (2) postoperative situations; (3) postoperative complications; (4) postoperative pain scores; (5) changes in hepatic function and blood routine during perioperative period. Follow-up using outpatient examination and telephone interview was performed to detect complications during the postoperative 6 months up to March 2019. Measurement data with normal distribution were represented as Mean±SD, and comparison between groups was analyzed using the paired t test or repeated ANOVA. Count data were described as absolute numbers and percentages, and comparison between groups was analyzed using the chi-square test or Fisher exact probability. Results: Fifty-two patients were screened for eligibility, including 20 males and 32 females, aged 25-68 years, with an average age of 53 years. There were 30 patients in the observation group and 22 in the control group. (1) Surgical situations: the operation time and volume of intraoperative blood loss were (133±19)minutes and (47±21)mL in the observation group, and (136±22)minutes and (49±23)mL in the control group, respectively, showing no significant difference between the two groups (t=-0.386, -0.211, P>0.05). (2) Postoperative situations: time to out-of-bed activity, time to initial food intake, time to first anal flatus, duration of postoperative hospital stay, and hospital expenses were (18±4)hours, (19±5)hours, (28±2)hours, (4.0±1.0)days, and (1.82±0.22)×10⁴ yuan in the observation group, and (29±7)hours, (46±9)hours, (37±4)hours, (6.6±1.6)days, and (2.25±0.29)×10⁴ yuan in the control group, respectively, showing significant differences between the two groups (t=-7.054, -14.169, -9.426, -6.582, -5.809, P<0.05). (3) Postoperative complications: 1 of 30 patients in the observation group had postoperative biliary leakage, with a postoperative complication rate of 3.3%, and was cured after symptomatic support treatment. Six of 22 patients in the control group had postoperative complication, with a postoperative complication rate of 27.3%, including 2 of biliary leakage, 1 of hemorrhage, 1 of abdominal infection, 1 of pulmonary infection, 1 of urinary infection, and they were cured after symptomatic support treatment. There was a significant difference between the two groups (χ²=4.358, P<0.05). (4) Postoperative pain scores: from postoperative 6 hours to 48 hours, the postoperative pain score changed from 2.4±0.7 to 1.9±0.9 in the observation group, and from 4.1±0.7 to 2.9±0.9 in the control group, respectively, showing a significant difference in the changing trend between the two groups (F=78.053, P<0.05). (5) Changes in hepatic function and blood routine during perioperative period: from preoperation to postoperative 3 days, levels of alamine aminotransferase (ALT), aspartate transaminase (AST), gamma-glutamyltransferase (GGT), total bilirubin (TBil), and count of white blood cells in the observation group changed from (77±20)U/L to (53±12)U/L, from (85±22)U/L to (61±17)U/L, from (166±39)U/L to (55±24)U/L, from (40±13)μmol/L to (29±12)μmol/L, from (7.0±2.0)×10⁹/L to (6.8±1.9)×10⁹/L, and changed from (79±23)U/L to (62±14)U/L, from (88±24)U/L to (64±17)U/L, from (179±34)U/L to (74±29)U/L, from (45±13)μmol/L to (35±12)μmol/L, from (7.9±2.4)×10⁹/L to (7.5±1.9)×10⁹/L in the control group, respectively. The levels of ALT, AST, GGT, TBiL, and count of WBC showed increasing at postoperative 1 day, and decreasing at postoperative 3 days. There was no significant difference in the changing trend between the two groups (F=0.058, 0.471, 3.021, 1.593, 2.172, P>0.05). Conclusion ERAS is safe and effective in the laparoscopic surgery for choledocholithiasis comorbid with cholecystolithiasis.

Objective To study the clinical effect of total parathyroidectomy (TPTX) on treatment of secondary hyperparathyroidism (SHPT) in patients with chronic renal failure.Methods 24 patients undergoing TPTX in Mianyang Central Hospital from Jan.2014 to Nov.2016 were retrospectively analyzed.The preoperative,postoperative and follow-up intact parathyroid hormone (iPTH),serum calcium,serum phosphorus and calciumphosphorus product were statistically analyzed.The postoperative complications and recurrence were observed.Results For preoperative,1 week after operation,3 months after operation,6 months after operation,12 months after operation,24 months after operation and 36 months after operation,the mean values of iPTH were (1771.7± 244.5) pg/ml,(70.2±18.2) pg/ml,(106.5±35.3) pg/ml,(114.3±31.3) pg/ml,(122.1±27.8) pg/ml,(128.1±12.5) pg/ml and (113.8±24.9) pg/ml.The mean values of serum calcium were (2.6±0.4) mmol/L,(1.9±0.4) mmol/L,(2.1±0.3) mmol/L,(2.1±0.2) mmol/L,(1.8±0.2) mmol/L,(1.8±0.2) mmol/L and (1.8±0.3) mmol/L.The mean values of serum phosphorus were (2.1±0.7) mmol/L,(1.4±0.6) mmol/L,(1.3±0.4) mmol/L,(1.4±0.3) mmol/L,(1.3±0.3) mmol/L,(1.5±0.2) mmol/L and (1.4±0.4) mmol/L.The mean values of calcium-phosphorus product were (61.9±17.0) mg2/dl2,(34.6±19.4) mg2/dl2,(37.4±14.4) mg2/dl2,(40.4±12.3) mg2/dl2,(29.2±5.3) mg2/dl2,(35.0 ±7.1) mg2/dl2 and (32.4 ± 11.3) mg2/dl2,respectively.Compared with those before operation,postoperative iPTH,serum calcium,serum phosphorus and calcium-phosphorus product decreased significantly at 1 week after operation,3 months after operation,6 months after operation,12 months after operation,24 months after operation and 36 months after operation,and the differences had statistical significance (all P＜0.05).Temporary injury of recurrent laryngeal nerve was found in one patient (4.2％).Early postoperative hypocalcemia rate was 91.7％ (22/24).No recurrence developed after operation.Conclusion TPTX is safe and effective in treatment of SHPT in patients with chronic renal failure,with low recurrence rate and satisfactory treatment outcome.

Objective To explore the effect of minimally invasive surgery combined with catheter suction operation on quality of life in patients with intracerebral hemorrhage.Methods A total of 221 cerebral hemorrhage patients were randomly divided into observation group (n =121) and control group (n =100).The observation group was treated with minimally invasive surgery combined with catheter suction operation,while control group was treated with conventional craniotomy clearance surgery.Postoperative recovery condition,neurological function score (NIHSS),quality of life and postoperative complications were observed and compared between two groups.Results In the observation group,the treatment time,hematoma clearance rate at one day after operation,volume of brain tissue edema at 7 days after operation were significantly better than the control group (P ＜0.05).Scores of physiological function,physiological function,body pain,general health,vitality,social function,emotional function and mental health of the observation group were significantly better than the control group (P ＜ 0.05).There were no significant differences in postoperative rebleeding and intracranial infection after operation between two groups (P ＞ 0.05).Incidence of pulmonary infection,electrolyte disorder and gastrointestinal bleeding in the observation group were significantly better than the control group (P ＜ 0.05).Conclusion Minimally invasive surgery combined with catheter suction operation can significantly improve neurological function,improve the quality of life and reduce the incidence of complications in treatment of patients with intracerebral hemorrhage.