Development and validation of a risk-prediction model for immune-related adverse events in patients with non-small-cell lung cancer receiving PD-1/PD-L1 inhibitors / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

Lung cancer remains the leading cause of cancer deaths worldwide and is the most common cancer in males. Immune-checkpoint inhibitors (ICIs) that target programmed cell death protein-1 (PD-1) or programmed cell death-ligand 1 (PD-L1) have achieved impressive efficacy in the treatment of non-small-cell lung cancer (NSCLC) (Pardoll, 2012; Champiat et al., 2016; Gao et al., 2022). Although ICIs are usually well tolerated, they are often accompanied by immune-related adverse events (irAEs) (Doroshow et al., 2019). Non-specific activation of the immune system produces off-target immune and inflammatory responses that can affect virtually any organ or system (O'Kane et al., 2017; Puzanov et al., 2017). Compared with adverse events caused by chemotherapy, irAEs are often characterized by delayed onset and prolonged duration and can occur in any organ at any stage of treatment, including after cessation of treatment (Puzanov et al., 2017; von Itzstein et al., 2020). They range from rash, pneumonitis, hypothyroidism, enterocolitis, and autoimmune hepatitis to cardiovascular, hematological, renal, neurological, and ophthalmic irAEs (Nishino et al., 2016; Kumar et al., 2017; Song et al., 2020). Hence, we conducted a retrospective study to identify validated factors that could predict the magnitude of the risk of irAEs in patients receiving PD-1/PD-L1 inhibitors; our approach was to analyze the correlation between the clinical characteristics of patients at the start of treatment and relevant indicators such as hematological indices and the risk of developing irAEs. Then, we developed an economical, practical, rapid, and simple model to assess the risk of irAEs in patients receiving ICI treatment, as early as possible.

Advances in the Clinical Application of Trendelenburg Position / 中国医学科学杂志(英文版)

The Trendelenburg position and reverse Trendelenburg position are frequently employed during lower abdominal surgery to achieve optimal surgical field visualization and complete exposure of the operative site, particularly under pneumoperitoneum conditions. However, these positions can have significant impacts on the patient's physiological functions. This article overviews the historical background of Trendelenburg position and reverse Trendelenbury position, their effects on various physiological functions, recent advancements in their clinical applications, and strategies for preventing and managing associated complications.

Short-term efficacy of empagliflozin in children with glycogen storage disease type Ⅰb / 中华儿科杂志

Objective: To analyze the short-time efficacy of empagliflozin in the treatment of glycogen storage disease type Ⅰb (GSD Ⅰb). Methods: In this prospective open-label single-arm study, the data of 4 patients were collected from the pediatric department in Peking Union Medical College Hospital from December 2020 to December 2022. All of them were diagnosed by gene sequencing and had neutropenia. These patients received empagliflozin treatment. Their clinical symptoms such as height and weight increase, abdominal pain, diarrhea, oral ulcer, infection times, and drug applications were recorded at 2 weeks, 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, and 15 months after treatment to assess the therapeutic effect. The liquid chromatography-tandem mass spectrometry method was used to monitor the changes in 1, 5-anhydroglucitol (1, 5AG) concentration in plasma. At the same time, adverse reactions such as hypoglycemia and urinary tract infection were closely followed up and monitored. Results: The 4 patients with GSD Ⅰb were 15, 14, 4 and 14 years old, respectively at the beginning of empagliflozin treatment, and were followed up for 15, 15, 12 and 6 months, respectively. Maintenance dose range of empagliflozin was 0.24-0.39 mg/(kg·d). The frequency of diarrhea and abdominal pain decreased in cases 2, 3, and 4 at 1, 2 and 3 months of treatment, respectively. Their height and weight increased at different degrees.The absolute count of neutrophils increased from 0.84×109, 0.50×109, 0.48×109, 0.48×109/L to 1.48×109, 3.04×109, 1.10×109, 0.73×109/L, respectively. Granulocyte colony-stimulating factor was gradually reduced in 1 patients and stopped in 3 patient. Plasma 1, 5 AG levels in 2 children were significantly decreased after administration of empagliflozin (from 46.3 mg/L to 9.6 mg/L in case 2, and from 56.1 mg/L to 15.0 mg/L in case 3). All 4 patients had no adverse reactions such as hypoglycemia, abnormal liver or kidney function, or urinary system infection. Conclusion: In short-term observation, empagliflozin can improve the symptoms of GSD Ⅰb oral ulcers, abdominal pain, diarrhea, and recurrent infection, also can alleviate neutropenia and decrease 1, 5AG concentration in plasma, with favorable safety.

Medicinal evolution and modern research progress on Mume Fructus / 中国中药杂志

Prunus mume is an edible and medicinal material, and Mume Fructus is its processed product, which was first recorded in Shennong's Classic of Materia Medica(Shen Nong Ben Cao Jing). It is an effective drug for stopping diarrhea with astringents and promoting fluid production to quiet ascaris. By consulting the ancient herbal works of the past dynasties, modern codes, and other rela-ted literature, this paper sorted out the medicinal evolution of Mume Fructus, examined the ancient efficacy of Mume Fructus and the main indications, and summarized the inclusion of Mume Fructus in national and provincial standards. It is recorded in the ancient herbal works of the past dynasties that Mume Fructus can be processed by various methods such as roasting, stir-frying or micro-frying, stir-frying with charcoal, single steaming, steaming with wine, and steaming after soaking in wine or vinegar, and prepared into pills, powders, and ointments, which are used in the treatment of fatigue, diabetes, malaria, dysentery, ascariasis, and other diseases. Mume Fructus has been included in nine editions of Chinese Pharmacopoeia and 19 provincial and municipal preparation specifications. The processing method of Mume Fructus is determined, namely, clean P. mume should be softened by moistening in water or steaming and pitted. By reviewing the effects of processing on its chemical composition, pharmacological effects, and its modern clinical application, this paper identified the following issues. The ancient application methods of Mume Fructus are diverse but less commonly used in modern times, there is a lack of standardized research on the processing, and the research on the changes caused by the difference in Mume Fructus before and after processing is not deep. Therefore, it is necessary to further investigate the change pattern of its chemical composition before and after processing and its correlation between its medicinal activity to standardize the processing technology and provide a solid basis for the use of Mume Fructus in parts and its quality control.

Application of a low copper diet guidance based on food exchange portions in children with hepatolenticular degeneration / 中国当代儿科杂志

OBJECTIVES@#To study the efficacy of a low-copper diet guidance based on food exchange portions in children with hepatolenticular degeneration.@*METHODS@#A self-controlled study was conducted from July 2021 to June 2022, including 30 children under the age of 18 who were diagnosed with hepatolenticular degeneration and poorly controlled with a low-copper diet. During the medical visit, personalized low-copper diet guidance was provided to the children and their parents using a copper-containing food exchange table and a copper food exchange chart. During home care, compliance with the low-copper diet of the children was improved by recording dietary diaries and conducting regular follow-ups. The changes in 24-hour urine copper level, liver function indicators, and the low-copper diet knowledge of the children's parents were observed before and after the intervention, with no change in the original drug treatment.@*RESULTS@#After 8, 16, and 24 weeks of intervention, the 24-hour urine copper level decreased significantly compared to before intervention (P<0.05). When compared to 8-week intervention, the urine copper level decreased significantly after 16 and 24 weeks of intervention. The 24-hour urine copper level after 24 weeks of intervention decreased significantly compared to 16 weeks of intervention (P<0.05).After 24 weeks of intervention, the alanine aminotransferase and aspartate aminotransferase levels decreased significantly compared to before intervention (P<0.05). Additionally, in 16 of the cases (53%), alanine aminotransferase and aspartate aminotransferase returned to normal levels. Following 8 weeks of intervention, the low-copper diet knowledge of the children's parents increased significantly (P<0.05).@*CONCLUSIONS@#A low-copper diet guidance based on food exchange portions can effectively decrease the urine copper level and improve liver function in children with hepatolenticular degeneration. Furthermore, it can increase the low-copper diet knowledge of the children's parents.

Fatty Acid Binding Protein 5 (FABP5) Promotes Aggressiveness of Gastric Cancer Through Modulation of Tumor Immunity

Purpose@#Gastric cancer (GC) is the second most lethal cancer globally and is associated with poor prognosis. Fatty acid-binding proteins (FABPs) can regulate biological properties of carcinoma cells. FABP5 is overexpressed in many types of cancers; however, the role and mechanisms of action of FABP5 in GC remain unclear. In this study, we aimed to evaluate the clinical and biological functions of FABP5 in GC. @*Materials and Methods@#We assessed FABP5 expression using immunohistochemical analysis in 79 patients with GC and evaluated its biological functions following in vitro and in vivo ectopic expression. FABP5 targets relevant to GC progression were determined using RNA sequencing (RNA-seq). @*Results@#Elevated FABP5 expression was closely associated with poor outcomes, and ectopic expression of FABP5 promoted proliferation, invasion, migration, and carcinogenicity of GC cells, thus suggesting its potential tumor-promoting role in GC. Additionally, RNA-seq analysis indicated that FABP5 activates immune-related pathways, including cytokinecytokine receptor interaction pathways, interleukin-17 signaling, and tumor necrosis factor signaling, suggesting an important rationale for the possible development of therapies that combine FABP5-targeted drugs with immunotherapeutics. @*Conclusions@#These findings highlight the biological mechanisms and clinical implications of FABP5 in GC and suggest its potential as an adverse prognostic factor and/or therapeutic target.

Investigation on population dynamics and Echinococcus infections in small rodents around human settlement in Yushu City, Qinghai Province / 中国血吸虫病防治杂志

Objective To investigate the population dynamics and Echinococcus infections in small rodents around human settlement in Yushu City, Qinghai Province. Methods Rodents were captured using the mouse trap method in pastures from Batang Township and Longbao Township of Yushu City, Qinghai Province on May, August and October, 2018. The body weight and snout-vent length of all captured rodents were measured, and the species was identified according to the rodent morphology. Genomic DNA was extracted from rodent liver specimens and lesion specimens, and the mitochondrial cox1 gene of Echinococcus was amplified using PCR assay for identification of parasite species. In addition, the tissue specimens positive for PCR assay were sampled for pathological examinations. The prevalence of Echinococcus infections was estimated in rodents, and a phylogenetic tree was created based on Echinococcus cox1 gene sequences. Results A total of 285 small rodents were captured, including 143 Ochotona curzoniae (50.2%), 141 Lasiopodomys fuscus (49.5%), and 1 Neodon irene (0.3%), and there was a remarkable variation in habitat selection among these three rodent species. The number of L. fuscus correlated positively with vegetation coverage (r = 0.350, P = 0.264), with the greatest number seen in August, and the number of O. curzoniae negatively with vegetation coverage (r = −0.371, P = 0.235), with the highest number seen in August and the lowest number in May. The female/male ratios of O. curzoniae and voles were 1:0.96 and 0.82:1, respectively. The body weight (r = 0.519, P < 0.01) and snout-vent length (r = 0.578, P < 0.01) of O. curzoniae showed a tendency towards a rise with month, while the body weight (r = −0.401, P < 0.01) and snout-vent length (r = −0.570, P < 0.01) of voles presented a tendency towards a reduction with month. No Echinococcus infection was detected in voles, while 2.1% prevalence of E. shiquicus infection was seen in O. curzoniae. Phylogenetic analysis revealed consistent sequences of cox1 gene from E. shiquicus in Yushu City of Qinghai Province and Shiqu County, Ganzi Tibetan Autonomous Prefecture of Sichuan Province. Conclusions The small rodents around the human settlement in Yushu City of Qinghai Province mainly include O. curzoniae and L. fuscus, with the greatest numbers seen in May and August, respectively. Following the concerted efforts for echinococcosis control, the prevalence of Echinococcus infections is low in small rodents around the human settlement in Yushu City; however, there is still a risk of echinococcosis transmission.

Warming acupuncture combined with moxibustion at Yongquan (KI 1) for knee osteoarthritis with kidney-marrow deficiency: a randomized controlled trial / 中国针灸

OBJECTIVE@#To compare the clinical effect between warming acupuncture combined with moxibustion at Yongquan (KI 1) and simple warming acupuncture for knee osteoarthritis with kidney-marrow deficiency.@*METHODS@#A total of 66 patients of knee osteoarthritis with kidney-marrow deficiency were randomized into an observation group and a control group, 33 cases in each one. Warming acupuncture was applied at Neixiyan (EX-LE 4), Dubi (ST 35), Zusanli (ST 36) and Xuanzhong (GB 39) on the affected side in both of the groups. In the observation group, mild moxibustion at bilateral Yongquan (KI 1) was adopted additionally. Each treatment lasted for 30 min, 3 times a week (once every other day), and the consecutive 6 weeks of treatment were required. The Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) score (such as joint pain, stiffness and physical function), the amount of joint effusion and the serum contents of interleukin-1β(IL-1β), tumor necrosis factor-α (TNF-α) and high-sensitivity C-reactive protein (hs-CRP) were observed before and after treatment in the two groups.@*RESULTS@#The total effective rate in the observation group was 93.3% (28/30), which was superior to 87.1% (27/30) in the control group (<0.05). Compared before treatment, the pain scores, stiffness scores, physical function scores, the amount of joint effusion and the contents of IL-1β, TNF-α and hs-CRP after treatment were significantly reduced in the two groups (<0.05), and the improvements of these indices in the observation group were superior to the control group (<0.05).@*CONCLUSION@#Warming acupuncture combined with moxibustion at Yongquan (KI 1) can improve joint function, reduce the amount of joint effusion and the contents of inflammatory response indices for knee osteoarthritis with kidney-marrow deficiency. The therapeutic effect of warming acupuncture combined with moxibustion at Yongquan (KI 1) is better than simple warming acupuncture.

Acupuncture combined with cinesiotherapy cupping for knee osteoarthritis with stagnation and blood stasis syndrome: a randomized controlled trial / 中国针灸

OBJECTIVE@#To compare the clinical efficacy between acupuncture combined with cinesiotherapy cupping and acupuncture combined with conventional cupping for knee osteoarthritis (KOA) with stagnation and blood stasis syndrome, and to seek a better solution for KOA.@*METHODS@#A total of 78 patients of KOA with stagnation and blood stasis syndrome were randomly divided into an observation group and a control group, 39 cases in each group (3 cases in the observation group and 2 cases in the control group lost contact). Both groups were treated with acupuncture at Neixiyan (EX-LE 4), Dubi (ST 35), Xuehai (SP 10), Liangqiu (ST 34), Heding (EX-LE 2), Zusanli (ST 36), Yinlingquan (SP 9), Yanglingquan (GB 34) and Xuanzhong (GB 39). Based on the acupuncture treatment, the control group was treated with conventional cupping. The No. 4 cupping glass was used for Xuehai (SP 10), Liangqiu (ST 34) and Fengshi (GB 31), while the No. 3 cupping glass was used for Yinlingquan (SP 9), while the cupping with appropriate size was used for points; the cupping glass was retained for 5 min. Based on the acupuncture treatment, the observation group was treated with cinesiotherapy cupping. The selection of acupoint and cupping glass was identical as the control group. The patients were instructed to perform knee flexion-extension, hip abduction-adduction, weight-bearing and other active exercise while cupping; the treatment was given once a day, 10 times as a course of treatment; totally three courses were given with an interval of 2 days between the courses. The patient's symptom scores, pain scores and knee function scores were recorded before and after treatment. The amount of joint effusion was measured by ultrasound; the level of interleukin-1 (IL-1), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α) in joint effusion were measured by ELISA.@*RESULTS@#After treatment, the total effective rate in the observation group was 94.4% (34/36), which was significantly higher than 86.5% (32/37) in the control group (0.05).@*CONCLUSION@#The acupuncture combined with cinesiotherapy cupping could alleviate pain, improve joint function and reduce joint effusion, which is superior to acupuncture combined with conventional cupping.

The effect of adaptation of two pressure sensors on the pediatric liver transplantation / 中国实用护理杂志

Objective@#We observed the effect of the opening and closing pressure sensors on the pediatric liver transplantation.@*Methods@#The 100 cases of pediatric patients who suffered biliary atresia were chose to this study from July 1st 2018 to Dec 31st 2018. They received the living donor liver transplantation. The samples were divided into control group and test group according to the random number table. We observed the volume of blood lost during the process of blood sample collecting. The hemoglobin (HB) and infection rate of catheter were also recorded.@*Results@#The test group didn′t lose blood when collecting the sample, and the time of collecting the blood sample in the test group was (22.0 ± 4.2) s, which was shorter than that of in the control group (47.0 ± 7.8) s, the difference was significant, t=9.321, P<0.05. The difference of HB and infection rate of catheter after 24 hours between two groups was not significant, P>0.05.@*Conclusion@#The closing pressure sensor may be more advanced when used to avoid the loss of blood and prevent the infection.

Intracranial hemorrhage from metastatic CNS lymphoma: A case report and literature review

@#Metastatic brain lymphomas, which belong to secondary central nervous system lymphomas, usually originate from primary tumors of the bone marrow, testis, or orbit. Gastrointestinal lymphomas commonly metastasize to the lung or heart. We report here a case of brain hemorrhage due to metastasis from primary gastrointestinal diffuse large B-cell lymphoma (DLBCL). A 30-year-old male presented with headache. He was diagnosed to have gastrointestinal lymphoma 6 months earlier, and treated with gastrointestinal surgery. Pathological diagnosis was DLBCL. A PET-CT scan immediately after gastrointestinal surgery demonstrated no brain metastasis. On admission to the ward, imaging of the brain showed right temporoparietal hematoma. In the ward, the patient deteriorated with impaired consciousness. Repeat brain imaging showed enlargement of the hematoma. He underwent right temporoparietal craniotomy for the removal of a hematoma, and tumor nodules adherent to the cortex was found. Pathology confirmed a metastatic DLBCL in the brain. Literature review showed that this was the first reported case of brain hemorrhage from metastatic lymphoma. Metastatic central nervous system lymphoma should be considered as a differential diagnosis in patients with a history of gastrointestinal lymphoma presenting with neurological symptoms.

Piloerection as the sole symptom of epilepsy: A case report and review of literature

Piloerection is an involuntary erection of body hairs that usually has physiological correlates such as cold or a strong emotional experience. Piloerection may also be a rare manifestation of seizure.Here, we report a case of 54-year-old man who experienced pilomotor seizures from temporal lobe epilepsy. The patient presented with sudden piloerection and no loss of consciousness many times a day. Magnetic resonance imagingof the brain showed threelesions in the right hemisphere, with the largest lesion in the right temporal lobe. A video-EEG showed an ictal discharge in the delta range with right temporal onset. Digital subtraction angiography excluded arteriovenous malformation. The lesion in the right temporal lobe was resected. Immunohistochemistry confirmed a cerebral cavernous malformation. There was no further seizure. A review of the published literature revealed that ictal piloerection as a lone manifestation is rare. Most cases of pilomotor seizure originate in the temporal lobe. Close to four fifth of the cases has a structural lesion. EEG was able to confirm the diagnosis of ictal piloerection in the majority of cases.

Histopathological diagnosis and follow-up analysis of gastric mucosal biopsy / 临床与实验病理学杂志

Purpose To investigate the histopathological diagnosis and follow-up of gastric mucosal biopsy. Methods A detailed histopathological observation was performed on 5 748 gastroscopic biopsies and 3 288 patients were followed up. Results In 5 748 cases of endoscopy biopsy specimens, acute gastritis was rechecked in 125 cases, of which 112 cases were cured or improved (89.6％ ), 10 cases (8.0％ ) had little change, and 3 cases (2.4％) were aggravated. There were 2430 cases of chronic atrophic gastritis, in which 1521 cases were cured/improvement (62.6％ ), 737 cases (30.3％ ) had little change, and 172 cases (7.1％ ) were aggravated. In the 71 cases of special type of gastritis, 23 cases were cured or improved, accounting for 32.3％.42 cases were not changed much, accounting for 59.2％, and 6 cases were aggravated (8.5％ ). About druginduced gastritis/stomach reexamination in 94 cases, 57 cases were cured/improved, accounting for 60.6％, 34(36.3％ ) cases did not change, and 2 cases were aggravated(3.2％ ).183 cases of gastric polyp were reviewed, 165 cases(90.2％ ) were cured / improved, 13 cases (7.1％ ) were not changed and 5 cases (2.7％ ) were aggravated. No neoplasia/ nondysplasia was found in 205 cases, 196(95.6％ ) cases was cured / improved, no change was seen in 6 cases (2.9％ ) and aggravation was seen in 3 cases(1.5％). Indefinite neoplasia/ dysplasia was reexamined in 24 cases, 2 cases (8.3％) were cured/improved, no change was seen in 13 cases (54.2％ ), and aggravation was seen in 9 cases(37.5％).156 cases of intraepithelial neoplasia were retrospectively reviewed, in which138 (88.5％ ) cases were cured or improved, 4(2.6％ ) cases showed no change, and 13(8.3％) cases were aggravated. Conclusion It is of great significance to improve the early diagnosis rate, reduce missed diagnosis rate and misdiagnosis rate of gastric cancer by establishing 11 pathological changes and accompanying lesions.

Diagnosis of two Wilson's disease patients in one pedigree and analysis of related factors of its different clinical phenotypes / 基础医学与临床

Objective To study the clinical features of Wilson's disease patients with different clinical phenotypes in one pedigree. To make the diagnosis and summarize the factors influencing the clinical manifestations of patients with Wilson's disease. Methods The clinical data of siblings in this pedigree were collected.The literature about the fac-tors influencing the clinical phenotype of Wilson's disease were found. Results There were two siblings in one pedi-gree with Wilson's disease.The younger brother whose phenotype is liver-type,was 6 years old. His brother was 16 years old and showed mixed type(nerve+kidney).Their genotype are exon5.c.1714delG(maternal),exon8.c.2333G>T,p.R778L(paternal). They have the same genotype but different phenotypes and different age of onset. After re-viewing the literature,we found some factors outside the ATP7B gene may also affect the clinical phenotype. Conclu-sions Genetic testing is of great importance in children with Wilson's disease.Screening for hepatolenticular degener-ation should be performed in children with liver disease or neurological manifestations.In addition to the ATP7B gene, the clinical phenotype of hepatolenticular degeneration may also be affected by many other factors.

Delayed hemorrhage after microvascular decompression in a hemifacial spasm patient associated with neurosyphilis

Microvascular decompression is an effective treatment for hemifacial spasm. Hemorrhage is oneof the complications of microvascular decompression. However, delayed hemorrhage is very rare.Here, we report a case of ipsilateral cerebellar hemorrhage at day seven following microvasculardecompression. A 45-year-old woman presented with left HFS for the previous two years. Diagnostictesting demonstrated the presence of neurosyphilis. Brain magnetic resonance image was unremarkableon presentation. She received microvascular decompression and her hemifacial spasm completelyresolved after surgery. At day seven post-operatively, the patient presented with a sudden onsetheadache. Emergency computed tomography scan showed a cerebellar hemorrhage. A suboccipitalcraniotomy was performed and a cerebellar hematoma was evacuated. The delayed hemorrhage wasattributed to possible microaneurysm from syphilis.

Association of neck circumference and metabolic syndrome as well as its components in type 2 diabetes / 中国综合临床

Objective To investigate the relationship between neck circumference and metabolic syndrome(MS) and its components in type 2 diabetes Methods A total of 272 subjects with type 2 diabetes were recruited.According to the diagnostic criteria of MS,all subjects were divided into MS group and non-MS group.According to neck circumference tertile,all subjects were respectively divided into male and female of three groups to analyze the relationship between neck circumference and MS and its components.Male:Q1＜38.8 cm,Q2=(38.8-41.3) cm,Q3≥41.4 cm;female:Q1＜34.0 cm,Q2=34.0-36.3 cm,Q3≥36.4 cm.The optimal cut-off points of neck circumference were used to determine the MS by ROC curve.Results (1) Compared with non-MS group,subjects in MS group had significantly higher neck circumference((38.3±3.2)cm vs.(36.1±3.7) cm),waist circumference((94.1±8.4) cm vs.(82.7±10.8) cm),waist-hip ratio(0.93±0.06 vs.0.88± 0.08),body mass index ((26.2 ± 2.9) kg/m2 vs.(23.9 ± 3.5) kg/m2),fasting plasma glucose(9.0(6.7-11.5) mmol/L vs.7.7(5.9-10.2) mmol/L),systolic pressure(140(130-150) mmHg vs.130 (120-130) mmHg),diastolic pressure (80 (80-90) mmHg vs.80 (75-85) mmHg),triglycerides (1.9(1.4-2.8) mmol/L vs.1.2 (0.9-1.5) mmol/L),low-density lipoprotein cholesterol (LDL-C) ((3.3 ± 1.0)mmol/L vs.(3.0±0.9) mmol/L) and blood uric acid((322.7±90.1) mmol/L vs.(270.3±82.3) mmol/L),and the differences were significant(t or Z=-4.843,-8.622,-5.157,-5.592,-2.729,-5.723,-3.847,-6.856,-2.123,-4.545;P＜0.05).While the level of total cholesterol((2.7±2.8) mmol/L vs.(4.9±1.3)mmol/L) and high-density lipoprotein cholesterol (HDL-C) (1.0 (0.8-1.2) mmol/L vs.1.2 (1.1-1.5)mmol/L) were decreased,and the differences were significant (t or Z =-2.269,-7.068;P ＜ 0.05).(2)Compared with those with lowest tertiles(Q1 ＜38.8 cm) of neck circumference,male subjects with highest tertile (Q3≥41.4 cm) had higher level of waist circumference((97.8±8.6) cm vs.(89.9±8.5) cm),waist-hip rati (0.96±0.07 vs.0.93±0.06),body mass index((27.4±2.1) kg/m2 vs.(23.8±2.3) kg/m2),blood uric acid ((374.0±85.6) mmol/L vs.(305.8±73.6) mmol/L),and the differences were significant(P＜0.05).While age((52.1±10.7) years vs.(60.4±11.8) years) andHDL-C((1.0±0.3) mmol/Lvs.(1.2±0.5) mmol/L) were decreased,and the differences were significant (P＜0.05).Female subjects with higher tertile (Q3 ≥ 36.4 cm) had significantly higher level of waist circumference ((96.8 ± 10.1) cm vs.(79.5 ± 8.5) cm),waist-hip ratio(0.94±0.07 vs.0.86±0.06),body mass index((28.5±3.1) kg/m2 vs.(21.9±2.2) kg/m2),blood uric acid((295.2±94.3) mmol/L vs.(244.6±62.3) mmol/L),the frequency of MS(83.3％(40/48)vs.21.7％(10/46)) than with lower tertile(Q1＜34.0 cm).(3) Logistic regression analysis showed that neck circumference (β =0.187,P ＜ 0.001) was an independent risk factor of MS (y =0.187x-6.613).(4) The optimal cut-off points of neck circumference to MS were 40.1 cm (AUC =0.682,P=＞0.008) in male,and 35.3cm (AUC =0.766,P＜ 0.001) in female.Conclusion Neck circumference increases when type 2 diabetes patients with MS.Neck circumference is an independent risk factor for MS,which can be used as an indicator to evaluate MS.

SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome / 中国当代儿科杂志

Fanconi-Bickel syndrome (FBS, OMIM 227810), a rare autosomal recessive disorder of carbohydrate metabolism, is caused by SLC2A2 (GLUT2) mutations. The study reported 3 cases of FBS who were confirmly diagnosed by SLC2A2 gene analysis. The three patients showed typical features like glycogen storage disease and proximal renal tubular nephropathy. Homozygous splice-site mutation IVS8+5G>C (c.1068+5 G>C) was found in patient A and homozygous nonsense mutation c.1194T>A (p.Tyr398X) in patient B. Patient C harboured a missense mutation c.380C>A (p.Ala127Asp) and a de novo insertion c.970dupT (p.324TyrfsX392) which was not inherited from her parents. Four mutations were identified in the 3 Chinese FBS patients. Except IVS8+5G>C mutation, the other 3 mutations were novel in Chinese population. To the best of our knowledge, patient C may be the first FBS case worldwide with de novo mutation.

A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses / 中国当代儿科杂志

<p><b>OBJECTIVE</b>Hereditary multiple exostoses (HME) is an autosomal dominant monogenic disorder of paraplasia ossium. Mutations in EXT1 and EXT2 have been suggested to be responsible for over 70% of HME cases. This study aimed to analyze the clinical features and pathogenic mutations in a Chinese family with HME (6 patients in 24 members of 3 generations) and to review the relative literature regarding mutations in EXT1 and EXT2 in the Chinese population.</p><p><b>METHODS</b>Clinical pedigree dada from a Chinese family of HME were collected and analysed. EXT gene mutations in this pedigree assessed by PCR and sequencing. Pubmed and Wanfang (a Chinese database) were searched for the literature related to gene mutations in Chinese HME patients.</p><p><b>RESULTS</b>In the pedigree analyzed, the age of onset of HME was becoming younger, the disease was becoming more severe, and the number of osteochondromas was increasing, in successive generations. A splicing mutation IVS5+1G>A, first identified in Chinese population, was found in all diseased members of this pedigree. According the currently available literature, EXT1 and EXT2 mutations have been detected in 29% (26/90) and 43% (39/90) Chinese families with HME.</p><p><b>CONCLUSIONS</b>HME starts earlier and becomes more severe and extensive with each successive generation in members of the pedigree analyzed. A splicing mutation, IVS5+1G>A, of EXT1, first identified in Chinese population, may be responsible for HME in the studied pedigree. EXT1 and EXT2 mutation rates may be different between the Chinese and Western populations.</p>

Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review / 中国当代儿科杂志

The clinical data of three Chinese children who had been definitely diagnosed with X-link dominate hypophosphatemic rickets (XLH) by gene mutation analysis of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) were retrospectively studied and the relevant literature was reviewed. PHEX gene mutations were detected in all 3 XLH children; a nonsense mutation (c.58C>T) in one case and splicing mutations (c.1645+1G>A, c.436+1G>A) in the other two cases. Among these mutations, c.436+1G>A was novel. As of January 2014, a total of 329 PHEX gene mutations were reported, primarily within three mutation hot spots, throughout the world. Missense mutations accounted for the highest proportion (24%) among all mutations. There is literature showing geographic differences in the total number of XLH subjects and PHEX mutation types across the world. In the current literature, 89 cases of XLH with 28 types of PHEX mutations have been reported in the population of mainland China. Exon 22 is the most frequent mutation site (18%) and missense mutations are the most common type of mutations (61%). It is concluded that exon 22 is the mutation hot spot and missense mutation is the most common type of mutation in the PHEX gene in Chinese XLH patients and that c.436+1G>A detected in this study is a novel PHEX gene mutation in Chinese with XLH.

Effects of erythropoietin on serum NSE and S-100B levels in neonates with hypoxic-ischemic encephalopathy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the effects of erythropoietin (EPO) on serum levels of neuron-specific enolase (NSE) and S-100B in neonates with hypoxic-ischemic encephalopathy (HIE) and the underlying mechanism.</p><p><b>METHODS</b>Forty neonates with HIE were randomly divided into conventional treatment (n=20) and EPO treatment groups (n=20). Twenty healthy full-term neonates born during the same period were randomly selected as the normal control group. The conventional treatment group received conventional treatment, while the EPO treatment group received conventional treatment as well as EPO [200 IU/(kg.d)] which was given by intravenous infusion from the second day after birth. The course of treatment was 7 days. Blood samples of the three groups were collected on the first day after birth (before treatment) and the ninth day after birth (after treatment). Serum levels of NSE and S-100B were measured by double-antibody sandwich ABC-ELISA.</p><p><b>RESULTS</b>Before treatment, the two treatment groups had significantly higher serum NSE and S-100B levels than the normal control group (P<0.01), whereas no significant differences in the levels of NSE and S-100B were observed between the conventional treatment and EPO treatment groups (P>0.05). The serum NSE and S-100B levels on the ninth day after birth were significantly lower than those on the first day after birth in the three groups (P<0.01). After treatment, the serum NSE and S-100B levels were significantly lower in the EPO treatment group than in the conventional treatment group (P<0.05).</p><p><b>CONCLUSIONS</b>Dynamic monitoring of serum NSE and S-100B levels may be helpful for the early diagnosis of HIE and the assessment of brain injury repair in newborns with HIE. EPO may be helpful for the repair of neurons and glial cells.</p>