Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.

Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.

Objective:To explore the clinical characteristics,treatments,and pregnancy outcomes of pregnant women with malignant ovari-an tumors.Methods:We retrospectively analyzed the clinical data of 11 patients with pregnancies complicated by malignant ovarian tu-mors,including the pathological types,clinical staging,surgical methods,pregnancy outcomes,and follow-up results from January 2012 to December 2022.Results:Among the eleven patients followed up until October 2023,six had primary ovarian tumors and five had metastat-ic ovarian tumors.Among the six primary ovarian tumors,five were epithelial tumors(one in stage ⅠA,two in stage ⅠC,one in stage ⅢA,one in stage ⅡB)and one was a malignant germ cell tumor(stage ⅠA).Four patients were diagnosed at stage Ⅰ:one in early pregnancy who continued the pregnancy and underwent tumor surgery post-delivery,and three in late pregnancy who under went tumor surgery dur-ing cesarean section or postpartum.Two patients were diagnosed at stage Ⅲ:one in early pregnancy with surgery after the termination of pregnancy,and one in late pregnancy with surgery during a cesarean section.Five patients had successful births,including two premature and three full-term births,all alive and healthy.The six patients with primary ovarian tumors were followed up for 18-133 months,and all survived.Five patients had ovarian metastatic tumors,including four cases of Krukenberg tumors and one of a cervical tumor.Two patients were diagnosed in the first trimester and underwent tumor reduction post-abortion.One patient was diagnosed in the second trimester,had to continue the pregnancy,and underwent tumor reduction post-delivery.Two patients were diagnosed in the third trimester:one under-went cesarean section and ovarian tumor resection simultaneously,and the other underwent tumor resection post-delivery.Three patients had successful births,all premature but alive.One of the five patients with ovarian metastatic tumors was lost to follow-up;the remaining four were followed up for 3-22 months,and all deceased.Conclusions:The prognosis for patients with pregnancies complicated by ovarian primary tumors is favorable,whereas the prognosis for patients with pregnancies complicated by ovarian metastatic tumors is poor,neces-sitating greater clinical attention.

Benign gallbladder diseases are common diseases in general surgery, including gallstones, polypoid lesions, cholecystitis, etc. In China, the treatment of benign gallbladder diseases is still not standardized, which mainly shows in following aspects: (1)the tendency of cholecystectomy to all gallbladder diseases may result in the incidence of abdominal pain, distension, diarrhea and bile duct injury after surgery; (2)the attitude of "no-surgery" in which the standard cholecystectomy fails to implement in time for the benign gallbladder diseases with potential high-risk factors for gallbladder cancer, as a result, patients develop occurrence of gallbladder cancer. Especially, gallbladder sparing surgery is an unscientific surgery for benign gallbladder diseases, the gallbladder may become a high-risk factor for cancer after the operation. Implementation of standard cholecystectomy in time for benign gallbladder diseases with potential high risk gallbladder cancer can not only significantly reduce the incidence of gallbladder cancer, but also significantly improve the early diagnosis and the prognosis. Based on current literatures, the authors analyze the treatment status of benign gallbladder diseases, and investigate the disputes and problems in surgical indications, operation time and the selection of treatments of benign gallbladder diseases.

Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.

Objective To explore the characterization of thyroid stimulating hormone receptor(TSHR) gene mutational spectrum in children with hyperthyroidism from Guangzhou. Methods Ninety children were diagnosed with hyperthyroidism from July 2009 to July 2014 in our institute. Their median age at diagnosis was(7.5± 3.4) years, and there were 28 males and 62 females. Mutational analysis were performed by performing polymerase chain reaction (PCR) and DNA direct sequencing of exon 10 of TSHR gene. TSHR gene mutations from 50 unrelated healthy children were served as controls. The correlation between TSHR gene and hyperthyroidism in children was explored. Results A total of 3 mutations were identified in ninety children who were diagnosed with hyperthyroidism, one synonymous mutations(p.V614V), and two missense mutations( p. R707W and p. D727E). Mutation of p. V614V do not change amino acid and do not influence the structure and function of TSHR, no pathogenicity. p.R707W is a SNP associated with human cancers. The frequency of C allele of the D727E in children with hyperthyroidism was 86.7%, while 55.0% in the controls, significant different between the children with hyperthyroidism and the controls( P＜0. 01). In this study, a very high association between the D727E SNP and hyperthyroidism ( OR=18. 86, P＜0. 01) was found. Conclusion Three different mutations of TSHR gene exon 10 were identified in 90 children with hyperthyroidism, (c.1842A＞G,p.V614V、c.2119C＞T,p.R707W、c.2181G＞C,p.D727E), there were association between p.D727E and hyperthyroidism, nor p. V614V and p. R707W. Finally, p. D727E may be correlated with hyperthyroidism in children.

OBJECTIVEMucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase B(ARSB), which is required in the degradation of dermatan sulfate and chondroitin sulfate. The deficiency of ARSB leads to an accumulation of dermatan sulfate and chondroitin sulfate in lysosomes and gross excretion in the urine.Few articles about clinical study and ARSB gene mutation analysis of Chinese MPS VI patients were published. This study aimed to explore the clinical features and characteristics of ARSB gene in Chinese children with MPS VI.

METHODThirteen children were diagnosed as MPS VI by ARSB enzyme activity determination during the period from 2009 to 2013. Their clinical features, radiological findings and urine glycosaminoglycan (GAG) levels were retrospectively reviewed. Direct sequencing was used to identify any mutation in the ARSB gene.

RESULTThirteen children were diagnosed at the average age of (3.9 ± 2.2) years with 6 male and 7 female. All of these children presented with severe form and onset at an early age of (1.5 ± 0.8) years.Other clinical features included coarse facies, short stature, skeleton deformity, corneal clouding, hepatosplenomegaly with normal intelligence. The radiological findings in all children were characteristic of dysostosis multiplex, like abnormal development of vertebral bodies of the spine, campylorrhachia and paddle-shaped widened ribs. The MRI in case 2 showed cervical cord compression and multiple cysts degeneration in the corona radiate, cella lateralis and callosum.High urine GAG levels were detected, (307.10 ± 112.14) mg/L (Normally below 70 mg/L) and (722.28 ± 245.68) µg/mg creatinine. The ARSB enzyme activity in leukocytes was low, (13.29 ± 6.22) nmol/(mg×h) [Normal range (47-169) nmol/(mg×h)] by fluorogenic assay and (0.24 ± 0.18) U/g [Normal range (1.01-11.47) U/g] by colorimetric assay. A total of 11 mutations were identified by molecular analysis, including seven previously reported mutations (p.L72R, p.G167R, p.G303E, p.F399L, p. T442M, p.Y255X and p.R327X) and four novel mutations (p.Y175D, p.S403X, p.S464X and large deletion including ex. 2, 3). The c.1197C>G (p.F399L) mutation was the most common mutation in this study (31%).

CONCLUSIONThe severe form of MPS VI is characterized by early onset and rapid illness progression. Both the radiological findings and increased urine GAG are important clues to diagnose MPS VI.Large decrease or absence of ARSB activity is diagnostic for MPS VI.Four novel mutations of ARSB gene were identified. The reported mutation c.1197C>G (p.F399L) was the hot-spot mutation in this study.

Bone and Bones ; diagnostic imaging ; pathology ; Brain ; pathology ; Child ; Child, Preschool ; Exons ; genetics ; Female ; Glycosaminoglycans ; urine ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mucopolysaccharidosis VI ; diagnosis ; enzymology ; genetics ; Mutation ; N-Acetylgalactosamine-4-Sulfatase ; genetics ; metabolism ; Polymerase Chain Reaction ; Radiography ; Retrospective Studies ; Sequence Analysis, DNA

One hundred and seventy one gastric biopsy specimens from the patients undergoing gastroscopic examination from March to November 2010 were reviewed . HE, sliver and immunohistochemistry stains were performed in the specimens; the correlation of histopatholigy and the density and distribution of Helicobacter pylori in gastric mucosa was analyzed .The results displayed that spiral H.pylori mainly appeared on the surface mucus and in the gland lumen of gastric small concave , some were attached to the epithelial cells; coccoid H.pylori appeared within the apical cytoplasmic part of the epithelial cells and in the mucous membrane stroma .The depth of H.pylori infection was correlated with mucosal erosion , inflammation activities and amount of interstitial lymphocytes .The results suggest that spiral H.pylori infection may facilitate the invasive depth of coccoid H.pylori in gastric mucous membrane and the density of H.pylori infection is correlated with the extent and severity of inflammation .