Lesch-Nyhan syndrome(LNS) is a congenital X-linked recessive inherited disorder caused by mutations in the hypoxanthine guanine phosphoribosyl transferase (HPRT) gene.A deficiency of the HPRT enzyme is responsible for the disease.The main clinical manifestation includes hyperuricemia, juvenile-onset gouty arthritis and neurological developmental disorders.Studies have reported there are more than 400 HPRT gene mutation sites, but the incidence of LNS in the Chinese population is extremely low.Here we report a 16-year-old male patient who suffered neurological dysfunction at an early age and gouty arthritis in his youth.DNA of patient and his family members were extracted from peripheral blood lymphocytes.The coding region and the intron-exon boundaries of HPRT gene were sequenced by standard methods.We found a mutation in exon 3 of the HPRT gene of the patient and his mother (Exon3:c.143G>A), which resulted in an arginine to histidine (p.R48H) substitution in the encoded protein.No activity of the enzyme HPRT was detected in the erythrocytes.The same mutation was reported in several European families, but was found in Chinese family for the first time.Clinicians in China have poor experience in diagnosing LNS case, due to the low incidence in China.Therefore LNS screening for infants or adolescents with hyperuricemia, gouty arthritis and neurological dysfunction should be performed.

Objective To explore the levels of leptin(LEP) and soluble leptin receptor (sOB‐R) in breast cancer patients′ser‐um ,and to discuss the relationship between LEP ,sOB‐R ,free leptin index(FLI) and the patients′clinical pathologic features .Meth‐ods 70 serum specimens of breast cancer patients who confirmed by pathological diagnosis were collected before the surgery ,the serum of benign breast disease group(n=50) and normal group(n=50) were also collected as control .The levels of LEP and sOB‐Rinserumweredetected,andtheresultafterbodymassindex(BMI)correctionwereanalyzed.Finally,therelationshipbetweenthe expression of LEP ,sOB‐R and clinical pathologic features were analyzed .Results The serum level of LEP in breast cancer group was highly increased than the other two groups (P<0 .05) ,and sOB‐R was reduced(P<0 .05) .After BMI correction ,LEP was still highly increased(P<0 .05) ,but sOB‐R was no significant difference (P>0 .05) .The level of LEP in the postmenopausal breast cancer patients were highly increased than menopause patients (P>0 .05) ,and the expression of LEP in cancer group were signifi‐cant higher than two control groups by both postmenopausal and menopause (P>0 .05) .The result suggested the serum level of LEP and FLI are associated with pTNM stages and lymph node metastases (P<0 .05) ,and elevated level of LEP in postmenopausal patients had differences in pTNM stages and lymph node metastases (P< 0 .05) .Conclusion The serum LEP level and the FLI may be potential indicators to evaluate the prognosis of the patient with breast cancer .The serum LEP may promoted the process of the postmenopausal patients of breast cancer .

Objective To investigate the epidemiological status of visceral leishmaniasis in Hamangou coal mine area of Korla City of Xinjiang Uygur Autonomous Region.Methods Based on a hint of possible existence of patients, a retrospective survey was carried out house by house to find cases with suspected signs/symptoms of the disease.Meanwhile, a survey on current status was conducted, including physical examination(liver and spleen palpation) to those less than 15 years-old, leishmanin skin test and rk39 immunochromatographic strip test for part of the residents.Bone marrow smears were examined for the cases with clinical signs/symptoms and positive rk39 strip test.Sandflies were collected using routine methods in and around the area, identified, and dissected to find infection of promastigotes.Results Leishmanin skin test was performed in 185 people with a positive rate of 21.1%(39/185), 39 out of 140 local residents who have lived there for more than 6 years showed positive(27.9%) , while all residents who have lived less than 6 years and children under 5 years old were negative.Of the 81 children under 15 years old with a negative skin test, one showed positive for rk39 strip test, and leishmania body was found in the bone marrow smear of this case, so confirmed as visceral leishmaniasis.12 sandfies were identified as Phlebotomus alexandri, and natural infection with promastigotes was found in one sandly.Conclusion The investigation confirms that visceral leishmaniasis is endemic in the Hamangou coal mine area.

Objective:To explore the risk factors of catheter-related thrombosis（CRT）in femoral vein indwelling catheter for patients undergoing artificial liver therapy.Methods:The clinical data 1 060 patients who received non biological artificial liver therapy with femoral vein catheterization at the Artificial Liver Center of the First Affiliated Hospital，Zhejiang University School of Medicine from February 26，2019 to March 30，2022 were retrospectively analyzed. During the treatment，CRT occurred in femoral vein indwelling catheter in 574 cases（54.2%，CRT group）and did not occurred in remaining 486 cases（non-CRT group）. The influencing factors of CRT were analyzed with multiple Logistic regression.Results:Univariate analysis showed that gender，D-dimer before and after catheterization，international normalized ratio（INR），total bilirubin，catheterization location，and catheter retention time were significantly associated with the occurrence of CRT（all P<0.05）. Multiple Logistic regression analysis showed that male gender（ OR=1.627，95% CI 1.233-2.148， P<0.001），right femoral vein catheterization（ OR=2.101，95% CI 1.130-3.908， P=0.019），catheter retention time（ OR=1.039，95% CI 1.003-1.077， P=0.035），D-dimer >500 μg/L FEU after catheterization（ OR=1.697，95% CI 1.191-2.416， P=0.003）and INR≥1.5（ OR=1.343，95% CI 1.001-1.801， P=0.049）were independent risk factors for CRT in femoral vein indwelling catheter for artificial liver therapy. Conclusion:The incidence of CRT is high in patients undergoing artificial liver therapy with femoral vein catheterization. In clinical practice，medical staff should early identify high-risk populations for CRT and take timely preventive measures.