Hereditary carotid body tumor (HCBT) is a rare neuroendocrine tumor mainly caused by germline mutations of the SDHx gene. Its multifocality, familial aggregation, and potential malignant risk pose unique challenges to diagnosis and treatment. This review systematically expounds the molecular mechanism of HCBT, pointing out that SDHx mutations drive tumorigenesis through the “pseudo-hypoxia” pathway and are regulated by epigenetic and somatic mutations. In terms of diagnosis, we emphasize the crucial role of ⁶⁸Ga-DOTATATE PET/CT and SDHB immunohistochemistry and advocate for multigene panel sequencing for patients with high-risk characteristics (such as early-onset, multifocal, family history or malignant signs) to clarify the genetic background. On the basis of existing evidence, we recommend conducting baseline biochemical tests for all newly diagnosed patients and actively suggest genetic screening for high-risk individuals such as those who are young, have multifocal tumors, or have a family history. In terms of treatment, surgery is the main treatment method for HCBT. Nevertheless, individualized strategies still need to be formulated based on tumor classification and patient’s overall condition and genetic background. Comprehensive management measures such as targeted therapy, radionuclide therapy, and standardized family management are crucial for improving the prognosis of patients.

BACKGROUND: : Tourette syndrome (TS) is a neuropsychiatric disorder with onset in childhood that warrants effective therapies. Gut microbiota can affect central physiology and function via the microbiota-gut-brain axis. Therefore, the gut microbiota plays an important role in some mental illnesses. A small clinical trial showed that fecal microbiota transplantation (FMT) may alleviate TS symptoms in children. Herein, FMT effects and mechanisms were explored in a TS mouse model. METHODS: : TS mice model (TSMO) (n = 80) were established with 3,3'-iminodipropionitrile, and 80 mice were used as controls. Mice were grouped into eight groups and were subjected to FMT with feces from children or mice with or without TS, or were given probiotics. Fecal specimens were collected 3 weeks after FMT. 16S rRNA sequencing, behavioral observation, and serum serotonin (5-HT) assay were performed. Differences between groups were analyzed using Mann-Whitney U test and Kolmogorov-Smirnov (KS) tests. RESULTS: : A total of 18 discriminative microbial signatures (linear discriminant analysis score > 3) that varied significantly between TS and healthy mice (CONH) were identified. A significant increase in Turicibacteraceae and Ruminococcaceae in TSMO after FMT was observed (P  < 0.05). Compared with non-transplanted TSMO, the symptoms of those transplanted with feces from CONH were alleviated (W = 336, P = 0.046). In the probiotic and FMT experiments, the serum 5-HT levels significantly increased in TSMO that received probiotics (KS = 1.423, P = 0.035) and in those transplanted with feces from CONH (W = 336.5, P = 0.046) compared with TSMO without transplantation. CONCLUSIONS : This study suggests that FMT may ameliorate TS by promoting 5-HT secretion, and it provides new insights into the underlying mechanisms of FMT as a treatment for TS.
Animals ; Disease Models, Animal ; Fecal Microbiota Transplantation ; Gastrointestinal Microbiome/physiology* ; Mice ; RNA, Ribosomal, 16S/genetics* ; Serotonin ; Tics ; Tourette Syndrome/therapy*

Objective: In this study, a new surgical technique was developed to reconstruct the lateral nail fold in the duplicated thumbs with a common nail and postoperative outcomes were evaluated. Methods: From December 2012 to October 2015, sixteen duplicated thumbs with a common nail were treated in our hospital using a flap from resected finger pulp which did not include the nail and phalanx. Unilateral inverting suture was performed between the flap and nail bed to reconstruct the lateral nail fold and nail groove. Postoperative outcomes were evaluated by Wang-Gao scoring system (total 12). Results: The follow-up period ranged from 10 to 45 months. The reconstructed nails were smooth and had a natural lunula, and the nail width was about 80%-100% of their normal sides. There was a right angle between the nail epithelium and lateral nail fold in four cases, and an acute angle in two cases. The reconstructed nails were asymmetrical in these thumbs. One patient showed a hypertrophy in the lateral nail fold. The reconstructed nails were evaluated by Wang-Gao scoring system: 10 in 2 cases, 11 in 4 and 12 in 10. All the cases had excellent results. Conclusions The nail width usually is more than 80% of the normal sides in the radial polydactyly with a common nail. The surgical technique can reconstruct a natural lateral nail fold and nail groove, and avoid the nail deformity caused by the Bilhaut-Cloquet procedure.

Objective: To introduce the design of modified Reading man flap, and observe the clinical effect of modified flap for repairing digit and toe wounds. Methods: From July 2014 to September 2017, dorsal skin defects on 37 digits and 18 toes were repaired with our modified Reading man flaps. The revised design was characterized with enlargement the major flap and extending the minor flap proximally, and all donor site defect were sutured primarily through the major flap recover the defect and the minor flap repair the subsequent donor defect. Results: All the detects in 55 patients were repaired by the modified Reading man flaps with direct donor sites closure. With average of 11.5 months (9.5-25.7 months) follow-up, all flaps survived with satisfactory texture and appearance, the bulky deformity and scar contracture did not occur. Partial necrosis of tip in the minor flaps occurred in 2 toes and healed by wound dressing. The function of the toe joints was good and the walking gait was normal. Partially impaired PIP joint function with limited flexion occurred in 2 cases. Based on the TAM evaluation criteria, the results were excellent in 28 digits, good in 7 digits, and the overall satisfactory rate was 94.6%. Conclusions The modified Reading man flap can get good clinical effects for treatment of the digit and toe dorsal skin defect with the advantages of simple procedure, easy transfer and direct closure of donor sites. Flaps appearance and joints function can get good result postoperatively.

Objective To explore the relationship between individual difference in heparin sensitivity and postoperative bleeding,and lay the foundation for individualized heparin anticoagulant strategy. Methods A total of 120 patients undergoing cardiopulmonary bypass were enrolled in this study. Activated clotting time(ACT)of whole blood was established,and 2.5 mg/kg first heparin was given to the sternum.The value of ACT was measured after five minutes.The patients were divided into 3 groups according to the results of the first measured heparin.If the ACT value did not meet the transfer requirements,heparin 0.5 mg/kg was added,and the amount of bleeding was recorded. The general information of patients,blood transfusion and drainage and other information 24 hours postoperatively were recorded. Results Drainage volume 24 hours after the operation in 3 groups was statistically significant(P < 0.05). Drainage volume 24 hours after the operation in group with ACT>750 s and group with ACT<480 s was significantly higher than that in group with ACT ranging from 480 s to 750 s but the difference be-tween the group with ACT < 480 s and the group with ACT > 750 s was not statistically significant(P > 0.05). Conclusions Heparin sensitivity is associated with postoperative bleeding in patients with cardiopulmonary by-pass surgery,and patients with ACT ranging from 480 s to750 s have the lowest amount of bleeding.

Objective: To discuss the therapeutic effect of using tibial island flap of second toe for the treatment of fibular hallux flap donor site defect. Methods: From March 2012 to April 2015, 18 tibial island flaps of second toe were transferred to repair donor site defect on fibular hallux that can not sutured directly, and the subsequent donor site wound on the second toe were sutured. Results: On an average of 13 months follow-up, all 18 flaps survived with primary healing. Texture and appearance of the tibial island flaps were satisfactory; The flaps had good sensory recovery, S3⁺ in 14 patients and S4 in 4 patients. Severe contracture of the first toe web were not observed. The donor site of second toe got good recovery with normal activity of interphalangeal joint. Conclusions The tibial island flap of second toe is a good option for treatment of the defect on fibular hallux flap donor site. Meanwhile, it also meets the requirement of " donor site care" .

Objective To investigate the necessity and feasibility of digit fusion with an advanced island flap in thumb dysplasia of radial polydactyly.Methods From February 2007 to January 2015,we collected the patients with radial polydactyly,whose nail width or thumb girth was less than 80％ of contralateral side.Among them,some patients were also associated with radial deviation deformities in two thumbs or a shorter radial thumb compared with ulnar thumb.In these cases,an island compound flap,which was based on proper palmar digital artery (PPDA) in radial thumb and contained nail,part distal phalanx and skin,combining with ulnar side of ulnar thumb was used to reconstruct a new thumb.Only the patients with a smaller thumb girth were treated by an island flap to augment the thumb size.There were 26 patients,including 29 sides.Preoperative Doppler ultrasonic examination was assigned to observe the amount and distribution of princepspollicisartery(PPA) and PPDA.Appearances were evaluated by Wang -Gao scoring system and functions were evaluated by Tata scoring system.Results There were two basic artery forms through preoperative ultrasonography and surgical exploration in 29 hands:both thumbs only had one PPDA;the main thumb had two while the extra thumb still had one.The former was responsible in 82.76％ (24 hands).All cases were operated according to preoperative design using an island compound flap.26 hands in 23 patients were followed up more than 6 months.Flap results included survival in 22 patients,tension vesicle in 2 patients and tip necrosis in 2 patients.The incision was infected in one patient with the treatment of changing dressing regularly.The function results were excellent in 21 patients,good in 4,fair in 1.Aesthetic results were excellent in 13 patients,good in 4 and fair in 1.Conclusions There is always one developed PDAA in extra thumb,which can be used to design a flap.The longitudinal advanced flap can also eliminate the tension caused by unequal length in two thumbs.Using an axial or island flap to reconstruct a new thumb can not only change the appearance,but also make the reconstructed thumb acquire two sets of blood supply and nerve system.

Objective To investigate the necessity and feasibility of digit fusion with an advanced island flap in thumb dysplasia of radial polydactyly.Methods From February 2007 to January 2015,we collected the patients with radial polydactyly,whose nail width or thumb girth was less than 80％ of contralateral side.Among them,some patients were also associated with radial deviation deformities in two thumbs or a shorter radial thumb compared with ulnar thumb.In these cases,an island compound flap,which was based on proper palmar digital artery (PPDA) in radial thumb and contained nail,part distal phalanx and skin,combining with ulnar side of ulnar thumb was used to reconstruct a new thumb.Only the patients with a smaller thumb girth were treated by an island flap to augment the thumb size.There were 26 patients,including 29 sides.Preoperative Doppler ultrasonic examination was assigned to observe the amount and distribution of princepspollicisartery(PPA) and PPDA.Appearances were evaluated by Wang -Gao scoring system and functions were evaluated by Tata scoring system.Results There were two basic artery forms through preoperative ultrasonography and surgical exploration in 29 hands:both thumbs only had one PPDA;the main thumb had two while the extra thumb still had one.The former was responsible in 82.76％ (24 hands).All cases were operated according to preoperative design using an island compound flap.26 hands in 23 patients were followed up more than 6 months.Flap results included survival in 22 patients,tension vesicle in 2 patients and tip necrosis in 2 patients.The incision was infected in one patient with the treatment of changing dressing regularly.The function results were excellent in 21 patients,good in 4,fair in 1.Aesthetic results were excellent in 13 patients,good in 4 and fair in 1.Conclusions There is always one developed PDAA in extra thumb,which can be used to design a flap.The longitudinal advanced flap can also eliminate the tension caused by unequal length in two thumbs.Using an axial or island flap to reconstruct a new thumb can not only change the appearance,but also make the reconstructed thumb acquire two sets of blood supply and nerve system.

OBJECTIVETo study the classification and individualized treatment of the terminal phalanx of thumb duplication.

METHODSFrom Apr. 2003 to Dec. 2012, 76 patients with 77 involved thumbs duplication at the level which is distal to the interphalangeal joint were retrospectively studied. Based on the morphology (the nail width and the thumb circumference) and the deviation of the thumb, we classified the terminal phalanx of thumb duplication into 5 types as Type A (no bony connection called floating thumb), Type B(asymmetry and no deviation), Type C(asymmetry and deviation), Type D (symmetry and no deviation) and Type E(symmetry and deviation). Different surgical procedures were selected according to different types. Simple excision of the smaller thumb was adopted for Type A case. Removement of the smaller thumb (usually the radial) and of the collateral ligament of the interphalangeal joint were selected for Type B. Removement of the smaller thumb (usually the radial) and reconstruction of the collateral ligament of the interphalangeal joint, as well as corrective osteotomies at the neck of the proximal phalanx were performed for Type C. The modified Bilhaut-Cloquet procedure with reconstruction of the collateral ligament of the interphalangeal joint were adopted in Type D. The classical Bilhaut-Cloquet procedure, or the modified Bilhaut-Cloquet procedure with reconstruction of the collateral ligament of the interphalangeal joint and corrective osteotomies at the neck of the proximal phalanx were performed in Type E. The results were assessed by an evaluation form for thumb duplication by the Japanese Society for Surgery of the Hand.

RESULTSAccording to our new classification standard, there were 3 cases with Type A duplicated thumbs, 36 with Type B, 13 with Type C, 15 with Type D, 10 with Type E. All the 76 patients underwent the individualized surgical treatment. The patients were followed up for 6-60 months. According to the evaluation form, excellent results were achieved in 66 thumbs, good in 9 thumbs and fair in 2 thumbs.

CONCLUSIONSThe new classification could comprehensively describe the clinical features of the terminal phalanx of congenital thumb duplication. Individualized therapy, including basic and repeated surgical procedure could be adopted for each type with satisfactory results.

Child ; Collateral Ligaments ; surgery ; Finger Phalanges ; surgery ; Humans ; Orthopedic Procedures ; methods ; Osteotomy ; methods ; Polydactyly ; classification ; surgery ; Reconstructive Surgical Procedures ; methods ; Retrospective Studies ; Thumb ; abnormalities

Objective To investigate Aβ42 and P-tau levels in cerebrospinal fluid (CSF) of patients with mild cognitive impairment (MCI). Methods CSF of 25 cases of MCI and 14 cases of cognitively normal (CN) were investigated. The CSF levels of Aβ42 and P-tau were detected by ELISA method. Correlation analysis was used to analyze the correlation between P-tau level and MMSE score in MCI. Results The CSF level of Aβ 42 was higher and P-tau was lower in MCI than CN group(P<0.05). P-tau level in MCI was also negatively correlated with MMSE score (P<0.05). Conclusion Aβ42 and P-tau levels in CSF may be valuable biological markers in the diagnosis of MCI. P-tau level in CSF of MCI may be related to the severity of cognitive impairment.