Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 53
Filter
1.
Front Pediatr ; 12: 1414557, 2024.
Article in English | MEDLINE | ID: mdl-38840800

ABSTRACT

Introduction: Cannulated screws are widely used in the treatment of slipped capital femoral epiphysis, which can be removed after physeal closure on patient's request. This study aimed to analysis the potential risk factors for difficult removal in children with slipped capital femoral epiphysis treated by cannulated screws. Patients and methods: This study enrolled 32 hips that had undergone removal of cannulated screws after treatment of slipped capital femoral epiphysis at our department. The primary outcomes were the difficult screw removal. The secondary outcomes were functional outcome assessed by using a modified Harris Hip Score and complications of fractures and surgical site infection. Related risk factors for difficult removal were recorded and analyzed by multivariable logistic regression. Results: In total, 32 hips were evaluated, with a mean age of 14.9 ± 1.3 years old (range, 13-19 years). Six (18.8%) hips presented with difficult removal, including 4 cases of screws' slip and 2 breakages. The average implantation time in the difficult removal group (5.7 ± 1.0) was also significantly longer than that in the easily removed group (3.8 ± 0.9, p = 0.001). The mean surgical time in patients with difficult removal was 66.3 ± 11.6 min, which was also significantly longer than that (54.8 ± 8.3) in the other patients (p = 0.008). The duration of screw implantation was an independent risk factor for difficult removal. Conclusions: Prolonged screw duration was a predictor for difficult removal in children with slipped capital femoral epiphysis treated by cannulated screws. An early surgery after physeal closure might benefit those with a request for screw removal.

3.
Injury ; 55(3): 111068, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37798196

ABSTRACT

INTRODUCTION: Proximal femur simple bone cysts (SBCs) are rare in children, but with a risk of pathological fractures and the associated poor outcomes. This study aimed to evaluate the functional and radiographic outcomes of children with proximal femur SBCs. PATIENTS AND METHODS: 38 children with proximal femur SBCs treated surgically at our department, West China hospital, were enrolled in the study. Patients were divided into two groups according to whether pathological fractures presented before treatment. The non-fracture group received treatment of open curettage, cavity electrocauterization, bone grafting, and fixation (proximal femoral plate, intramedullary nail or Kirschner wire). The pathological fracture group received the same procedures of curettage, electrocauterization, grafting, and fixation. Autogenous iliac bone grafting was done in all cases, and the artificial bone was used as a supplementary based on the size of the cavity. Postoperatively, all patients underwent hip spica or similar orthosis immobilization for six weeks and received the same rehabilitation program after the removal of hip spica. Patients were evaluated by two independent observers, including the functional results based on the Ratliff's criteria, avascular necrosis, healing rate based on the Neer scoring system, coxa vara, and premature physeal arrest. We described the good outcome in Ratliff's criteria as "Satisfactory results", and fair and poor outcomes as "Unsatisfactory results." Grade 1 and grade 2 Neer results were termed as failures in treatment, and grades 3 and 4 were considered successes and healing. RESULTS: 38 patients with 38 hips (18 on the left side and 20 on the right side) were evaluated, including 9 females and 29 males, with a mean age of 9.0±2.6 years old (range, 5 to 14 years). There was no significant difference between these two groups in the baseline data of gender, age, side, grafting, staging, and fixation methods. The rate of unsatisfactory functional results in the pathological fractures group was 56.3% (9/16), significantly higher than that in patients without fracture (22.7%, 5/22. p= 0.047). There was also a significant difference in avascular necrosis of the femoral head between the pathological fractures group (7/16) and the group without fracture (2/22, p=0.021). Thirty cases presented with healing, including 13 in the fractures group and 17 in the non-fracture group (p=1.000), and eight cases were graded as failures (2 cases of grade 1 and 6 cases of grade 2). There were also no significant differences between these two groups in premature physeal arrest (2 in fracture group and 1 in non-fracture group, P=0.562), and Coxa vara (3 in the fracture group and 0 in non-fracture group, P=0.066). CONCLUSIONS: Pathological fracture significantly increases the risk of unsatisfactory functional results and avascular necrosis of the femoral head in patients with femoral neck SBCs. Prophylactic treatment and fixation of SBCs in weight bearing proximal femur region is better to manage without complications than managing with pathological fractures.


Subject(s)
Bone Cysts , Coxa Vara , Femoral Neck Fractures , Femur Head Necrosis , Fractures, Bone , Fractures, Spontaneous , Male , Child , Female , Humans , Fractures, Spontaneous/etiology , Femur Head Necrosis/diagnostic imaging , Femur Head Necrosis/etiology , Femur Head Necrosis/surgery , Fractures, Bone/complications , Femur/diagnostic imaging , Femur/surgery , Bone Wires/adverse effects , Bone Cysts/complications , Bone Cysts/diagnostic imaging , Bone Cysts/surgery , Treatment Outcome , Fracture Fixation, Internal/adverse effects , Retrospective Studies , Femoral Neck Fractures/surgery
4.
Injury ; 54(12): 111169, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37914552

ABSTRACT

INTRODUCTION: Open reduction is a therapeutic option for displaced radial neck fracture in children, which once was considered the last resort because of its potential risk for functional outcomes. This study aimed to identify risk factors for open reduction in operatively treated radial neck fractures in children. PATIENTS AND METHODS: One hundred and thirty-seven patients with displaced radial neck fractures, treated surgically at our department from January 2010 to December 2021 were retrospectively enrolled. Patients' data of age, sex, injury side, obesity, type of fractures, combined fractures, nerve injury, reduction methods, and delay from injury to surgery were reviewed. Univariate analysis and multivariate logistic regression were used to identify independent risk factors and odds ratios of open reduction. RESULTS: Overall, 137 patients (62 females and 75 males) with an average of 8.0 ± 2.2 years were analyzed. There were 62 cases of type III fractures and 75 cases of type IV based on the Judet classification. Thirty-two cases had combined fractures and 19 cases presented with nerve injury. The open reduction rate was 24.1 % (33/137). Univariate analysis indicated obesity, fracture type, and combined fractures were significantly associated with open reduction. (P = 0.039, P = 0.000 and P = 0.000, respectively). While multivariate logistic regression analysis showed that only fracture type (OR, 5.18; CI, 1.63-16.46, p = 0.005) and combined fractures (OR, 7.79; CI, 2.97-20.41, p = 0.000) were independent risk factors for open reduction. CONCLUSIONS: Judet type IV fracture and combined fractures are two significant risk factors for open reduction in operatively treated radial neck fractures in children. These findings will facilitate preoperative decision making, remind surgeons of the risk of failure in closed reduction and the use of new surgical techniques to decrease the open reduction poor outcome rate.


Subject(s)
Radial Head and Neck Fractures , Radius Fractures , Male , Female , Humans , Child , Retrospective Studies , Treatment Outcome , Radius/surgery , Fracture Fixation, Internal/methods , Obesity
5.
BMC Pediatr ; 23(1): 424, 2023 08 25.
Article in English | MEDLINE | ID: mdl-37626311

ABSTRACT

BACKGROUND: Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified. CASE PRESENTATION: Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. CONCLUSIONS: Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling.


Subject(s)
Hedgehog Proteins , Polydactyly , Male , Humans , Infant , Hedgehog Proteins/genetics , Point Mutation , Tibia/diagnostic imaging , Polydactyly/genetics , Smoothened Receptor
6.
Philos Trans A Math Phys Eng Sci ; 381(2254): 20220171, 2023 Sep 04.
Article in English | MEDLINE | ID: mdl-37454679

ABSTRACT

Rail corrugation is a common problem in metro lines, and its efficient recognition is always an issue worth studying. To recognize the wavelength and amplitude of rail corrugation, a particle probabilistic neural network (PPNN) algorithm is developed. The PPNN is incorporated with the particle swarm optimization algorithm and the probabilistic neural network. On the basis of the above, the in-vehicle noise characteristics measured in the field are used to recognize normal rail wavelengths of 30 and 50 mm. A stepwise moving window search algorithm suitable for selecting features with a fixed order was developed to select in-vehicle noise features. Sound pressure levels at 400, 500, 630 and 800 Hz of in-vehicle noise are fed into the PPNN, and the average accuracy can reach 96.43%. The bogie acceleration characteristics calculated by the multi-body dynamics simulation model are used to recognize normal rail amplitudes of 0.1 and 0.2 mm. The bogie acceleration is decomposed by the complete ensemble empirical mode decomposition with adaptive noise, and a reconstructional signal is obtained. The energy entropy of the reconstructional signal is fed into the PPNN, and the average accuracy can reach 95.40%. This article is part of the theme issue 'Artificial intelligence in failure analysis of transportation infrastructure and materials'.

7.
J Pharm Biomed Anal ; 234: 115533, 2023 Sep 20.
Article in English | MEDLINE | ID: mdl-37336040

ABSTRACT

Polygonatum cyrtonema Hua polysaccharide (PCP) is the main bioactive compound derived from the herb Polygonati Rhizoma, known for its anti-fatigue, antioxidant, immunomodulatory, and anti-inflammatory properties. However, its effectiveness on alleviating chemotherapy-induced muscle atrophy has been unclear. In this study, we utilized proteomic analysis to investigate the effects and mechanisms of PCP on gemcitabine plus cisplatin (GC) induced muscle atrophy in mice. Quality control analysis revealed that the functional PCP, rich in glucose, is a heterogeneous polysaccharide comprised of nine monosaccharides. PCP (64 mg/kg) significantly alleviated body muscle, organ weight loss, and muscle fiber atrophy in chemotherapy-induced cachectic mice. Moreover, PCP suppressed the decrease in serum immunoglobulin levels and the increase in pro-inflammatory factor interleukin-6 (IL-6). Proteomic analysis demonstrated that PCP contributed to the homeostasis of protein metabolism in gastrocnemius muscle. Diacylglycerol kinase (DGKζ) and cathepsin L (CTSL) were identified as primary PCP targets. Furthermore, the IL-6/STAT3/CTSL and DGKζ/FoxO/Atrogin1 signaling pathways were validated. Our findings suggest that PCP exerts an anti-atrophy effect on chemotherapy-induced muscle atrophy by regulating the autophagy-lysosome and ubiquitin-proteasome systems.


Subject(s)
Antineoplastic Agents , Polygonatum , Mice , Animals , Cachexia/chemically induced , Cachexia/drug therapy , Interleukin-6 , Proteomics , Muscular Atrophy/chemically induced , Muscular Atrophy/drug therapy , Polysaccharides/pharmacology , Polysaccharides/therapeutic use , Cisplatin , Antineoplastic Agents/adverse effects
8.
Transl Pediatr ; 12(3): 470-486, 2023 Mar 31.
Article in English | MEDLINE | ID: mdl-37035391

ABSTRACT

Background and Objective: Denosumab is a valuable and safe therapy for skeletal disorders in adults and has received regulatory approval to treat osteoporosis and bone metastases. However, denosumab is not licensed for pediatric use due to a lack of high-quality prospective research on children. This study aimed to describe and discuss the benefits and disadvantages of denosumab in treating bone diseases in children and to summarize the current understanding of the role of denosumab therapy in children. Methods: A narrative review was conducted using the literature retrieved from the PubMed, Embase, and Cochrane Library databases. Key Content and Findings: In children with type 6 osteogenesis imperfecta (OI), juvenile Paget disease (JPD), and secondary osteoporosis who show poor response to bisphosphonate, the use of denosumab has been reported to improve osteoporosis and increase bone mineral density (BMD). Moreover, for those with relapse, progressive and refractory aneurysmal bone cyst (ABC), fibrous dysplasia (FD), giant cell tumor of bone (GCTB), and central giant cell granuloma (CGCG) lesions, denosumab can improve pain symptoms, control disease progression, and reduce serious adverse events. Although there have been sporadic reports of adverse events such as hypocalcemia during medication and rebound hypercalcemia after discontinuation, early prevention, monitoring, and timely intervention can prevent children from experiencing severe adverse events. Conclusions: The published data indicate that denosumab has efficacy in alleviating disease in multiple refractory bone lesions in children.

9.
Genomics ; 115(2): 110557, 2023 03.
Article in English | MEDLINE | ID: mdl-36610559

ABSTRACT

Early bolting of Peucedanum praeruptorum Dunn severely affects its quality. In this study, we compared with the root structure of P. praeruptorum and its four coumarins content between early bolting (CT) and unbolting (WT) at different growth stages. We found that the proportion of area outside the root cambium (Rs) was higher in the WT plants than in the CT plants and correlated positively with the proximity to the root tip. Furthermore, the content of all four coumarins was also higher in the WT plants relative to the CT plants. In addition, we identified 15,524 differentially expressed genes (DEGs) between the two plant varieties. 11 DEGs are involved in the photoperiod and gibberellin pathways that regulate early bolting and 24 genes involved in coumarins biosynthesis were also identified. Nevertheless, early bolting of P. praeruptorum does affect its quality formation, and further studies are needed to confirm its mechanism.


Subject(s)
Apiaceae , Coumarins , Coumarins/chemistry , Apiaceae/genetics , Apiaceae/chemistry , Apiaceae/metabolism
10.
Molecules ; 27(20)2022 Oct 20.
Article in English | MEDLINE | ID: mdl-36296678

ABSTRACT

Neuronal-regulated cell death (RCD) due to the accumulation of ROS within the central nervous system (CNS) is one of the crucial causes of central system diseases. Caspase-dependent apoptosis is the only form of RCD. As research progressed, several nonapoptotic cell death pathway RCDs were identified. Ferroptosis is a nonapoptotic RCD characterized by lipid peroxidation and plasma membrane damage. Polygonatum cyrtonema Hua. Polysaccharides (PCP) are an effective antioxidant. Based on this, the protective effect and mechanism of PCP against H2O2-induced microglial injury were investigated. Furthermore, the protective mechanism of PCP against ferroptosis in microglia was explored. Our results indicated that PCP could reduce oxidative stress-induced ROS accumulation by activating the NRF2/HO-1 signaling pathway, thus attenuating RCD in microglia. Subsequent studies have revealed that PCP alleviates ferroptosis in microglia due to protein levels of ERASTIN/RSL3 inhibitor SLC7A11/GPX4 by activating the NRF2/HO-1 signaling pathway. Therefore, we hypothesized that PCP exerts antioxidative and anti-ferroptosis effects by activating the expression of the NRF2/HO-1 pathway. This facilitates new ideas for clinically effective prevention and treatment of diseases due to accumulated reactive oxygen species in the CNS. Simultaneously, PCP has the development potential as a new drug candidate for treating CNS diseases.


Subject(s)
NF-E2-Related Factor 2 , Polygonatum , Reactive Oxygen Species/metabolism , NF-E2-Related Factor 2/metabolism , Antioxidants/pharmacology , Antioxidants/metabolism , Microglia/metabolism , Hydrogen Peroxide/pharmacology , Oxidative Stress , Polysaccharides/pharmacology
11.
J Pediatr Orthop ; 42(9): 482-487, 2022 Oct 01.
Article in English | MEDLINE | ID: mdl-35941096

ABSTRACT

BACKGROUND: This study aimed to evaluate the outcome of surgical debridement combined with postoperative hip spica immobilization in the treatment of hip joint tuberculosis in children. METHODS: This retrospective study enrolled 87 children with stage I to III hip joint tuberculosis treated surgically at our hospital from January 2010 to January 2016. All patients considering hip tuberculosis routinely received a 4-week conservative treatment first, including rest, protected weight-bearing, and 4-drugs antitubercular chemotherapy. Surgical debridement was indicated when there was no relief after this conservative protocol. Patients were divided into 2 groups according to the duration of hip spica immobilization after operation: group A (hip spica for 4 wk, 39 patients) and group B (hip spica for 6 wk, 48 patients). All patients were recommended partial weight-bearing for 7 days and then followed the same hip joint exercises program when spica was removed. Postoperative radiographs, hip dislocation or subluxation, and modified Harris hip score (MHHS) were assessed. All patients were followed up at least 5 years. RESULTS: There were 87 patients enrolled in our study, including 34 females and 53 males, with a mean age of 7.2±2.8 years old (range: 2 to 14 y). No significant difference was observed between these 2 groups in baseline data. In group A, the mean MHHS improved from 52.1±14.7 before surgery to 87.8±8.3 at the final follow-up ( P <0.000). In group B, there was also a significant difference between the preoperative MHHS (52.7±9.4) and the final MHHS (88.6±6.5) ( P <0.000). Although there was no significant difference between these 2 groups in the final MHHS ( P =0.593), there were also no significant differences between these 2 groups in wound healing delay (3 in group A and 6 in group B, P =0.705) and pathologic subluxation (3 in group A and 1 in group B, P =0.467). The only difference between group A (79.2±8.5) and group B (75.5±7.5) was the early functional outcome assessed by using MHHS after 1 month of hip joint exercises ( P =0.032). CONCLUSIONS: Surgical debridement combined with antitubercular chemotherapy is an effective treatment for stage I to III hip tuberculosis in children when there is no improvement after conservative treatment. Prolonged hip spica immobilization may not reduce the risk of hip subluxation after open surgical debridement but could lead to a delay in early functional recovery. Time of spica immobilization should be individualized and based on the surgeon's evaluation and the patient's condition.


Subject(s)
Casts, Surgical , Tuberculosis, Osteoarticular , Arthroscopy/methods , Child , Child, Preschool , Debridement , Female , Hip Joint/surgery , Humans , Male , Retrospective Studies , Treatment Outcome , Tuberculosis, Osteoarticular/surgery
12.
Injury ; 53(10): 3310-3316, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35840360

ABSTRACT

INTRODUCTION: Radial neck fracture is a less common injury in childhood and many factors are associated with the final functional outcomes. This study aimed to describe the clinical and radiological results of the patients with radial neck fractures treated surgically and assess the potential risk factors for poor functional outcomes. PATIENTS AND METHODS: This study enrolled 101 children with radial neck fracture and treated surgically at our department. Patients were followed up at least three years and assessed clinically and radiographically. The primary outcome of this study was the functional outcome assessed by using Metaizeau criteria and the secondary outcome was complications of radial head necrosis, postoperative radial nerve palsy, bone union, infection, and skin irritation. Related risk factors for unsatisfactory functional outcomes were recorded and analyzed by multivariable logistic regression. RESULTS: In total, 101 patients with 101 elbows (44 on the left side, 57 on the right side) were evaluated in our study, including 55 females (54.5%) and 46 males (45.5%), with a mean age of 7.5±2.7 years old (range, 3 to 14 years). There were 65.3% excellent (66 cases), 18.8% good (19 cases), 11.9% fair (12 cases), and 4.0% bad (4 cases) results in these patients. The rate of satisfactory outcome was 65.3% (66/101) and the rate of "unsatisfactory outcome" was 34.7% (35/101). Complications included postoperative radial nerve palsies in 15 cases (14.9%), radial head necrosis in 4 cases (4.0%), skin irritation due to the nail-end in 5 cases (5.0%), infection in 2 cases (2.0%), and bone nonunion in 1 patient (1.0%). Only Judet type (OR, 5.78; CI, 1.72-19.39, p=0.005) and surgical method (OR, 12.68; CI, 2.55-63.06, p=0.002) were independent risk factors for the unsatisfactory functional outcomes. CONCLUSIONS: Closed reduction with intramedullary fixation is a primary treatment for type III and IV radial neck fractures in children. Fracture severity classified as Judet type IV and open surgical method were independent predictors for unsatisfactory functional outcomes.


Subject(s)
Fracture Fixation, Intramedullary , Radial Neuropathy , Radius Fractures , Bone Nails , Child , Child, Preschool , Female , Fracture Fixation, Internal/methods , Fracture Fixation, Intramedullary/methods , Humans , Male , Necrosis/etiology , Radius Fractures/diagnostic imaging , Radius Fractures/etiology , Radius Fractures/surgery , Retrospective Studies , Risk Factors , Treatment Outcome
14.
J Pediatr Orthop B ; 31(1): 12-17, 2022 Jan 01.
Article in English | MEDLINE | ID: mdl-33230053

ABSTRACT

We evaluated the clinical and imaging outcomes of loose bone fragments in children with supracondylar humerus fractures after closed reduction with percutaneous pin (CRPP) fixation. A retrospective review was conducted on 12 children with fragments on imaging after closed reduction of displaced humeral supracondylar fractures (Gartland III). Primary radiographic assessment included fragment outcome, postoperative Baumann angle, carrying angle and loss of reduction. Clinical outcome included the elbow range of motion (ROM), Flynn grade and other complications. Between January 2015 and January 2018, 460 children (2-14 years old) with supracondylar humerus fractures were treated at our center, including 12 (2.6%) with loose bone fragments on postoperative X-ray. Union or absorption of fragments was noted in all 12 patients at 1 year postoperatively, with good radiographic and clinical outcomes. The mean Baumann angle was 15.5° ± 4.3° and the mean carrying angle was 11.2° ± 2.8°. All patients had a normal elbow ROM. Ten patients achieved an excellent and two a good result according to the Flynn criteria. Good results were achieved after CRPP fixation in 12 children with supracondylar humerus fractures and loose bone fragments. The fragments were mainly absorbed or achieved union to the humerus within 1 year.


Subject(s)
Elbow Joint , Humeral Fractures , Adolescent , Bone Nails , Child , Child, Preschool , Elbow Joint/diagnostic imaging , Elbow Joint/surgery , Fracture Fixation, Internal , Humans , Humeral Fractures/diagnostic imaging , Humeral Fractures/surgery , Humerus/diagnostic imaging , Humerus/surgery , Retrospective Studies , Treatment Outcome
15.
Front Microbiol ; 12: 772585, 2021.
Article in English | MEDLINE | ID: mdl-34867907

ABSTRACT

The fermentation of food materials with suitable probiotic strains is an effective way to improve biological activities. In this study, seaweed extracts were fermented by Saccharomyces cerevisiae and Lactiplantibacillus plantarum, and the hypolipidemic effects of the fermentation products were investigated. In vitro experiments suggested that fermented seaweed extracts have a high capacity for bile acid-binding. Additionally, a significant inhibitory effect against pancreatic lipase was observed. Furthermore, effects in hyperlipidemic mice were determined. Fermented seaweed extracts can alleviate lipid metabolism disorder. The administration of fermented seaweed extracts to mice showed decreased total cholesterol (TC), triglyceride (TG), and low-density lipoprotein cholesterol (LDL-C) levels and increased high-density lipoprotein cholesterol (HDL-C) levels. Combined, these results suggest that fermented seaweed extracts perform a potent hypolipidemic action, thus providing an effective method for the preparation of functional foods to combat cardiovascular diseases.

17.
World J Clin Cases ; 9(22): 6393-6402, 2021 Aug 06.
Article in English | MEDLINE | ID: mdl-34435004

ABSTRACT

BACKGROUND: Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant genetic disease characterized by severe autoimmune inflammation, caused by mutations in the PSTPIP1 gene. Due to PAPA heterogeneous clinical manifestation, misdiagnosis or delayed diagnoses are difficult to avoid. With the use of whole-exome sequencing, we identified a missense mutation in the PSTPIP1 gene in a Chinese family. To the best of our knowledge, this is the first case of PAPA reported in China. CASE SUMMARY: A 9-year-old boy suffered from recurrent aseptic pyogenic arthritis triggered by minor trauma or few obvious predisposing causes for more than 3 years. Pyogenic arthritis occurred every 3-5 mo, affecting his knees, elbows, and ankle joints. Treatments, such as glucocorticoids, antibiotics, even surgeries could alleviate joints pain and swelling to some extent but could not inhibit the recurrence of arthritis. Similar symptoms were present in his younger brother but not in his parents. According to the whole-exome sequencing, a missense mutation in exon 11 of the PSTPIP1 gene (c.748G>C; p.E250Q) was detected in the boy, his younger brother and his father. Taking into account the similar phenotypic features with PAPA syndrome reported previously, we confirmed a diagnosis of PAPA syndrome for the family. CONCLUSION: In this case, a missense mutation (c.748G>C; p.E250Q) in PSTPIP1 gene was identified in a Chinese family with PAPA syndrome. Previous studies emphasize the fact that PAPA syndrome is hard to diagnose just through the clinical manifestations owing to its heterogeneous expression. Genetic testing is an effectual auxiliary diagnostic method, especially in the early stages of pyogenic arthritis. Only if we have a deep understanding and rich experience of this rare disease can we make a prompt diagnosis, develop the best clinical treatment plan, and give good fertility guidance.

18.
Global Spine J ; 11(6): 1008-1009, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34196579

ABSTRACT

The author introduced a novel freehand technique for S2-Alar-Iliac screw placement Which demonstrated good clinical safety. However the optimal anatomical landmarks of the screw angle in the caudal direction have not been unified. The tip of the greater trochanter(TGT) was one of the most frequently chosen landmark in fluoroscopic or navigation guidance technique. Additional adjustments are always needed according to these studies. The freehand technique of the present study also choose the TGT as the as the landmark of the S2AI screw angle in the caudal direction, whether it also need any adjustment? We hope the author could explain more about this issue. Besides, the relationship between TGT and the sacral iliac bone is not static, which will make the reliability of the pre-surgery navigation software simulation doubtful.

SELECTION OF CITATIONS
SEARCH DETAIL
...