[A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].

This case report presents a family with developmental glaucoma accompanied by microcornea resulting from novel mutations in the ADAMTS18 gene. The index case involves a 5-year-old twin brother, who, during a routine examination, exhibited elevated intraocular pressure persisting for over a month. The peak intraocular pressure reached approximately 25 mmHg (1 mmHg=0.133 kPa) in both eyes, with a corneal diameter of less than 10 mm. Ocular examination revealed an enlarged cup-to-disc ratio, and optical coherence tomography (OCT) demonstrated thinning of the retinal nerve fiber layer and ganglion cell layer. Ultrasound biomicroscopy combined with gonioscopy indicated partial angle closure and abnormal anterior chamber angle development. The ocular manifestations in the twin brother were consistent with those observed in the twin sister. The clinical diagnosis was bilateral developmental glaucoma with microcornea. Genetic sequencing identified two novel compound heterozygous mutations in the ADAMTS18 gene in the twins: Mutation 1 (M1) involving the variant site 1 (c.3436C>T:p.R1146W) and Mutation 2 (M2) involving the variant site 2 (c.1454T>G:p.F485C). Ocular examinations of four additional family members were normal. Genetic testing revealed that the twins' father and sister carried M1, while the index case's mother and brother carried M2. This report underscores a unique association between ADAMTS18 gene mutations and developmental glaucoma with microcornea within a familial context, emphasizing the importance of genetic screening for early diagnosis and targeted management strategies.

[Quality of psychomotility recovery after propofol sedation for painless gastroscopy and colonoscopy].

OBJECTIVE: To study the effect of propofol used for painless gastroscopy and colonoscopy on psychomotility recovery. METHODS: One hundred adult patients undergoing painless gastroscopy and colonoscopy were recruited, aged 18-72 years, with American Society of Anesthesiologist (ASA) physical status Ⅰ-Ⅱ. According to age, the patients were divided into youth group (20-39 years old, 27 cases), middle age group (40-54 years old, 37 cases), and elder group (55-64 years old, 36 cases). Propofol was continuously infused according to the patients' condition to mantain the bispectal index (BIS) score 55-64. All the patients received psychomotility assesment 30 min before the operations when the discharge criteria were met including number cancellation test, number connection test and board test. The heart rate, blood pressure, saturation of pulse oximetry, electrocardiograph and BIS were monitored during the operation. The operating time, recovery time, total volume of propofol and discharge time were recorded. If the results obtained were inferior to those before operation, a third assessment was taken 30 minutes later until the results recovered or being superior to the baseline levels. RESULTS: All the patients completed the first and second assessments, and 25 patients had taken the third assessment. There was no statistically significant difference in the results of psychomotility assessment when the patients met the discharge standard. Furthermore, the results were analyzed by grouping with age, and there was no statistical difference in the test results of the youth and middle age groups compared with the preoperative group, among which, the efficiency of the number cancellation test was significantly better than that before operation in the youth group (P < 0.05). However, in the elderly patients the number cancellation efficiency, number connection test and board test were significantly inferior to that before operation (P < 0.05). There was no significant difference in the accuracy of number cancellation compared with that before operation. The patients who needed the third test in the elder group were significantly more than in the other groups (P < 0.05). Compared with the preoperative results, there was no statistical difference in the test results of those who completed the third test. CONCLUSION: The psychomotility function of the patients who underwent painless gastroscopy and colonoscopy was recovered when they met discharge criteria. The elderly patients had a prolonged recovery period.

[Clinical observation of different reperfusion methods in patients with acute ischemic stroke with atrial fibrillation within 4.5 hours from onset].

Objective: To detect the ideal treatment for acute ischemic stroke (AIS) patients with atrial fibrillation (AF) within 4.5 hours from onset. Methods: A total of 95 AIS patients with AF was retrospectively analyzed from April 2014 to January 2019. Thirty patients (group A) were treated with endovascular treatment directly, 35 (group B) patients were treated with intravenous recombinant tissue plasminogen activator (rtPA) followed by endovascular treatment, and 30 (group C) patients were treated with intravenous rtPA only. There were no significant differences among the groups in baseline data as age, gender, underlying diseases, medication, National Institutes of Health Stroke Scale (NIHSS) score, time from onset to treatment. Modified thrombolysis in cerebral infarction (mTICI), Symptomatic hemorrhagic transformation (SICH), 90 d prognosis of modified Rankin Scale (mRS) and death were compared. Results: Recanalization (mTICI≥2b) was similar in group A and B (70.0% vs. 68.6%, P>0.05). SICH of group A (6.7%) was significantly lower than that of group B (31.4%, P<0.05), but similar with that of group C (13.7%, P>0.05). Prognosis (mRS≤2) was significantly better in group A (70.0%) than that in group B (37.1%) and group C (30.0%), both P<0.01. The mortality rate in group A (6.7%) was lower than that in group B (14.3%) and group C (20.0%) without statistically significant, both P>0.05. Conclusion: AIS patients with AF within 4.5 hours from onset should receive endovascular treatment directly.

[Effects of nasogastric and percutaneous endoscopic gastrostomy tube feeding on the susceptibility of pulmonary infection in long-term coma patients with stroke or traumatic brain injury].

Objective: To investigate the effects of nasogastric tube (NGT) and percutaneous endoscopic gastrostomy (PEG) tube feeding on the susceptibility of pulmonary infection in long-term coma patients with stroke or traumatic brain injury. Methods: A total of 295 candidates who were in long-term coma after stroke or traumatic brain injury but without pulmonary infection and eligible for PEG catheterization were screened prospectively between January 2014 and February 2018. The patients were divided into PEG group (86 patients) and NGT group (209 patients) according to the choice of next-of-kin. Data related to the susceptibility of pulmonary infection were collected and analyzed in the two groups one month after the catheterization. Results: After follow-up for one month, compared with NGT group, patients in PEG group had a lower incidence of pulmonary infection (23.3% vs 37.8%, P=0.023), a later occurrence of pulmonary infection (average time: 21 days vs 13 days, P=0.034), and a less severe pulmonary infection (7.0% vs 12.9%, P=0.029). The following characteristics made patients more susceptible to pulmonary infection: age ≥ 70 years (HR=1.619, 95% CI 1.054-2.172), Charlson comorbidity index ≥ 2 points (HR=1.647, 95% CI 1.043-2.485), using of proton pump inhibitor ≥ 7 days (HR=1.725, 95% CI 1.214-2.738), and number of pressure ulcers ≥ 3 (HR=2.109, 95% CI 1.128-3.844). However, serum albumin concentration ≥35 g/L (HR=0.670, 95% CI 0.375-0.963) was a protective factor for pulmonary infections. The number of consistent pathogens cultivated from saliva, gastric juice and sputum simultaneously in NGT and PEG group was 35 strains (27.8%) and 8 strains (13.3%), respectively (P=0.029). The mortality of pulmonary infection was similar in the two groups (3.5% vs 4.3%, P=1.000), but the death due to pulmonary infection in the PEG group occur later (median time: 20 days vs 11 days, P=0.012). Conclusions: PEG feeding was a preferred nutrition way which could reduce the risk of pulmonary infection more effectively than NGT feeding which might favored a retrograde gastro-pulmonary route by which pathogens colonized in stomach migrated to respiratory tract. Patients with characteristics mentioned above had the susceptibility of pulmonary infection, thus risk assessment of pulmonary infection should be conducted before selecting the catheterization method.

[Hybrid surgery for complex symptomatic intracranial fistulas: a technical note].

Objective: To explore the efficacy of hybrid management of complex symptomatic intracranial fistulas in neurovascular hybrid operating room. Methods: From March 2014 to January 2015, 2 complex dural arteriovenous fistulas and 1 carotid cavernous fistulas were managed by hybrid surgeries in the PLA Rocket Force General Hospital.With first attempts with endovascular treatment failed, all cases were finally managed by hybrid surgery.Dural arteriovenous fistulas were approached via meningeal artery followed craniotomy.The carotid cavernous fistulas were treated by direct puncture into the left cavernous sinus after craniotomy. Results: Post-operative angiography demonstrated complete occlusion for 2 cases and nearly complete occlusion for 1 case.All 3 cases had no complications.On discharge 2 patients presented no symptoms and 1 greatly improved.Within the follow-up (1-33 months), 1 patient had recurrence after 21 months and received re-embolization with complete occlusion. Conclusion: Hybrid surgery is a promising method to manage complex intracranial fistulas.

Pharmacokinetics of tulathromycin and its metabolite in swine administered with an intravenous bolus injection and a single gavage.

Tulathromycin is a macrolide antimicrobial agent proposed for therapeutic use in treatment of porcine and bovine respiratory disease. In this study, the absolute bioavailability of tulathromycin solution was investigated in pigs. Eight pigs, with body weight of 20.5 ± 1.6 kg, were given a single dose of tulathromycin at 2.5 mg/kg oral (p.o.) and intravenous (i.v.) in a crossover design. The plasma concentrations of tulathromycin and its metabolite were determined by LC-MS/MS method, and the pharmacokinetic parameters of tulathromycin were calculated by noncompartmental analysis. After p.o. administration, the maximum plasma concentration (C(max) ) was 0.20 ± 0.05 µg/mL at 3.75 ± 0.71 h. The terminal half-life (t(1/2λz) ) in plasma was 78.7 ± 6.75 h, and plasma clearance (Cl/F) was 1.14 ± 0.28 L/h/kg. After i.v. injection, plasma clearance (Cl) was 0.580 ± 0.170 L/h/kg, the volume of distribution (Vz) was 64.3 ± 21.2 L/kg, and the t(1/2λz) was 76.5 ± 13.4 h. In conclusion, an analytical method for the quantification of tulathromycin and its metabolite in plasma in swine was developed and validated. Following p.o. administration to pigs at 2.5 mg/kg b.w., tulathromycin was rapidly absorbed and the systemic bioavailability was 51.1 ± 10.2.

Inhibition of cytochrome P450 2A participating in coumarin 7-hydroxylation in pig liver microsomes.

Five commonly used human cytochrome P450 (CYP) inhibitors were examined for their effects on coumarin 7-hydroxylase (CYP2A) activity in pig liver microsomes. The K(m) and V(max) values for coumarin 7-hydroxylation in pig liver microsomes were estimated to be 1 µm and 0.26 nmol·mg/min, respectively. The following human CYP inhibitors caused little or no inhibition of CYP2A as defined by a K(i) > 200 µm: quinidine (CYP2D6), troleandomycin (CYP3A4), and sulfaphenazole (CYP2C9). The other two human CYP inhibitors were classified as strong inhibitors of CYP2A: 8-methoxypsoralen (CYP2A6) and α-naphthoflavone (CYP1A1/2). In the absence of a preincubation period, 8-MOP inhibited the 7-hydroxylation of coumarin with a K(i) value of 1.1 µm, which decreased to 0.1 µm when 8-MOP was preincubated with pig liver microsomes for 3 min. α-Naphthoflavone inhibited the 7-hydroxylation of coumarin with a K(i) value of 32 µm, which did not increase ability to inhibitor CYP2A when α-naphthoflavone was preincubated with pig liver microsomes for 3 min. These results of this study suggest that 8-MOP is a potent, mechanism-based inhibitor of pig CYP2A activity in pig liver microsomes.

HLA alleles and haplotypes distribution in Dai population in Yunnan province, Southwest China.

Human leukocyte antigen (HLA) analysis would be a useful tool to trace the origin of modern humans. In this study, we provided the first four digital HLA-A, -B, -C and -DRB1 allele and haplotype data in the Dai ethnic population, which is a unique and representative Kam-Tai-speaking ethnic minority living in the Yunnan province of Southwestern China. Our results showed that the Dai population has unique HLA characteristic that are most closely related to the Southeastern Asia group and similar to the Kam-Tai speaking populations in China and Thailand.

Glycyrrhizin improves inflammation and apoptosis via suppressing HMGB1 and PI3K/mTOR pathway in lipopolysaccharide-induced acute liver injury.

OBJECTIVE: Acute liver injury (ALI) is mainly characterized by the symptom of metabolic disorders, homeostasis unbalance, and loss of liver function. There are no effective treatment methods at present stage except the liver transplantation. Effective treatment for early ALI is of great significance for the treatment of liver injury thereof. Glycyrrhizin (GL) is a promising inhibitor of the high-mobility group box-1 gene (HMGB1) which is expressed much higher in an inflammatory injury. However, it is not clear whether GL improves ALI via the inhibition of HMGB1. The present study is to probe the function and mechanism of glycyrrhizin on acute liver injury. MATERIALS AND METHODS: The expression of HMGB1 and inflammation in liver macrophages were analyzed. Lipopolysaccharide (LPS) was used in stimulating the macrophages to activate inflammatory response and recombined human HMGB1 was used to resist the function of GL to explore whether GL acted via the target of HMGB1. Then, LPS injection was utilized to induce ALI in mice, and then we evaluated GL treatment in ALI model. RESULTS: The results showed that the expressions of HMGB1 and inflammatory factors were markedly increased in LPS-activated liver macrophages. GL inhibited the progress of macrophages inflammation by restraining HMGB1, and the administration of GL could reverse the effects of LPS-induced ALI in mice. Moreover, PI3K/mTOR pathway was significantly suppressed by GL application. CONCLUSIONS: These results suggest that GL prevents inflammation in liver macrophages via inhibition of HMGB1. GL restrains inflammation and cell apoptosis by inhibiting HMGB1 via PI3K/mTOR signaling pathway in ALI. GL may become a novel drug for the therapy of ALI in the future.

Weak charge-density-wave transition in LaAgSb(2) investigated by transport, thermal, and NMR studies.

We report a study of the charge-density-wave (CDW) behavior in LaAgSb(2) by means of electrical resistivity, Seebeck coefficient, thermal conductivity, specific heat, and nuclear magnetic resonance (NMR) measurements. Except for the Seebeck coefficient, apparent indications of CDW ordering at around 207 K were noticed in the physical quantities investigated. On the other hand, all measured physical properties are insensitive to the second CDW formation (∼184 K), as the transition character is considerably weaker than the high-temperature one. Further, analyses of the thermal conductivity and NMR Knight shift data revealed that the observed variations are essentially of electronic origin. The present findings are in good agreement with the previous results, indicating that the high-temperature CDW ordering is associated with a small gapping of the Fermi surface with a minor periodic displacement of the crystal lattice in LaAgSb(2).

Liver Transplantation for Biliary Rhabdomyosarcoma With Liver Metastasis: Report of One Case.

BACKGROUND: Liver transplantation in combination with chemotherapy in postoperative biliary rhabdomyosarcoma recurrence of children was evaluated. METHODS: An 8-year-old girl with biliary rhabdomyosarcoma underwent pancreatico-duodenectomy with postoperative vincristine (VCR), adriamycin (Act-D), and cyclophosphamide (CTX) (VAC chemotherapy) (VCR, 1 mg; Act-D, 0.7 mg; CTX, 1500 mg). Two years later, liver metastasis in the left and right lobes was found and was followed by VAC chemotherapy (CTX, 1800 mg; Act-D, 0.9 mg; VCR, 1.2 mg), with no change of the tumor size. One and a half years later, liver transplantation performed with postoperative pathology confirmed embryonal rhabdomyosarcoma recurrence and was followed by VAC chemotherapy (CTX, 1400 mg; Act-D, 0.7 mg; VCR, 1.9 mg) and immunosuppression treatment. RESULTS: The liver transplantation went well, with no major complications. At the time of this report, the patient had survived for 6 months, with a good quality of life and no tumor recurrence. CONCLUSIONS: For unresectable biliary rhabdomyosarcoma without extra-hepatic metastases, liver transplantation could be an effective treatment. Liver transplantation completely removes the tumor and reduces the long-term side effects of chemotherapy drugs.

Galectin-9 in Combination With EX-527 Prolongs the Survival of Cardiac Allografts in Mice After Cardiac Transplantation.

Galectin-9 (Gal-9), a member of the galectin family, has a variety of biologic activities. However, its role in allografts is not fully clarified yet. The relationship between interleukin-17 (IL-17) and Gal-9 and the role of Gal-9 in T(H)17-cell differentiation also remain unclear. We built a murine cardiac transplantation model, which we treated with Gal-9 and/or EX-527, a specific Sirtuin-1 inhibitor. Afterwards, flow-cytometric analysis and reverse-transcription polymerase chain reaction were used to detect the number of T(H)17 cells and the expression of key factors involved in the differentiation of T(H)17 cells; in addition, the survival times of cardiac transplanted mice in different groups were recorded. The levels of circulating T(H)17 cells were found to increase in the peripheral blood of mice that exhibited acute rejection (AR) after heart transplantation, which was determined to be correlated with the rejection grade. Gal-9 or EX-527 can inhibit the activation and differentiation of T(H)17 cells and effectively suppress T(H)17-cell-mediated AR. These data provide new evidence for the potential regulatory effects of Gal-9 in alloimmune responses in a murine model of heart transplantation, and suggest the combined use of galectin-9 and EX-527 may be a powerful method to induce tolerance of fully mismatched murine cardiac allografts.

[Genetic relationships among six Chinese populations revealed by analysis of 30 autosomal STRs].

30 autosomal STRs of 6 Chinese populations (Bai, Naxi, Tu, Sala, Han in Shandong, She) were amplified by multiplex PCRs using fluerescein-labelled primers. Shriver's Dsw was estimated on the basis of the results of the genescanning and genotyping after running unnatural PAGE of the PCRs' products on ABI 377 sequencer. Phylogenetic trees were constructed by using Neighbor-Joining and UPGMA method based on Dsw, and then the genetic relationships among them were analyzed referring to some relative informations. Our results indicated that the genetic distance between Sala and Tu is near, 0.033. But the distances between Sala and other four populations are far, over 0.12; Tu is close to Naxi and Shandong Han, and the distances are 0.038, 0.063 respectively; The distance between Bai and Han is the nearest, 0.007, but there is a distance, 0.075, between Bai and Naxi, and a far distance, 0.112, between Bai and Tu; The distance between Naxi and Han is 0.100 and the distances between She and other 5 populations are all over 0.12. In both of the NJ and UPGMA phylogenetic trees, Naxi, Tu and Sala is one cluster and Bai and Han is another cluster. She is a single branch. These results, basically consistent with 6 Chinese populations' geographic distribution and histories, can provide some genetic information to comprehensively study their origin, migration, formation and development with their historical records and archaeological evidence.

Prevalence and sociodemographic correlates of depression in an elderly population living with family members in Beijing, China.

BACKGROUND: To date, there has been no large-scale survey of geriatric depression (GD) involving both rural and urban areas in China using standardized assessment tools and diagnostic criteria. This study aimed to determine the 12-month and lifetime prevalence rates of GD and sociodemographic correlates in urban and rural regions of Beijing, China.MethodA total of 1601 elderly patients (aged 60 years) were randomly selected and interviewed in Beijing using the Composite International Diagnostic Interview (CIDI 1.0). Basic sociodemographic and clinical data were also collected during the interviews. RESULTS: The overall 12-month prevalence of GD was 4.33%, and the 12-month prevalence rates for men and women were 2.65% and 5.83% respectively. The overall lifetime prevalence of GD was 7.83%, and lifetime prevalence rates for men and women were 4.65% and 10.66% respectively. Female sex, lower educational level, monthly income, rural abode, and the presence of one or more major medical conditions were associated with increased risk of GD. Of the GD subjects interviewed, 25.2% were receiving some type of treatment, with only 4.7% preferring to seek treatment from mental health professionals. CONCLUSIONS: Although still relatively low by international standards, there is an increasing trend in the prevalence of GD in China. The low percentage of subjects treated for GD is a major public health concern that should be addressed urgently.

HLA-A, HLA-B, and HLA-DRB1 alleles and haplotypes in Naxi and Han populations in southwestern China (Yunnan province).

The frequencies of the human leukocyte antigen alleles HLA-A, HLA-B, and HLA-DRB1 and the A-B-DRB1, A-B, and B-DRB1 haplotypes were studied in Naxi and Yunnan Han populations using polymerase chain reaction (PCR)-sequence-specific amplification for alleles A and B and a PCR-microtiter plate hybridization method for the DRB1 allele. A total of 8 A, 19 B, and 30 DRB1 alleles were found in the Naxi population, and 15 A, 21 B, and 36 DRB1 alleles were found in Yunnan Han population. The common A-B-DRB1 haplotypes in the Naxi population were A*24-B*15-DRB1*1202, A*11-B*15-DRB1*0405, A*11-B*15-DRB1*1202, A*11-B*38-DRB1*08032, and A*11-B*55-DRB1*0405; the common A-B haplotypes were A*11-B*15, A*11-B*38, and A*24-B*15; and the common B-DRB1 haplotypes were B*15-DRB1*1202, B*38-DRB1*08032, and B*48-DRB1*1201. In the Yunnan Han population, the common A-B-DRB1 haplotypes were A*24-B*15-DRB1*1501, A*24-B*46-DRB1*08032, and A*24-B*15-DRB1*1201; the common A-B haplotypes were A*24-B*15, A*24-B*46, and A*34-B*46; and the common B-DRB1 haplotypes were B*15-DRB1*1501, B*46-DRB1*09012, and B*46-DRB1*1401. Phylogenetic tree and principal component analyzes based on HLA-A, HLA-B, and DRB1 allele frequencies suggested that the Naxi ethnic group belongs to the southern Chinese groups, while the Yunnan Han population is a characteristic population located intermediate between northern and southern Chinese groups, although they live in the southwest of China.