Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review

SUMMARY Here, we report the clinical observations of two Chinese fraternal twins who presented with severe dehydration, poor feeding, and absence of stimuli responses within a few days of birth. Trio clinical exome sequencing of the family identified compound heterozygous intronic variants (c.1439+1G>C and c.875+1G>A) in SCNN1A gene in these two patients. Sanger sequencing results showed that the c.1439+1G>C variant was inherited from the mother, and c.875+1G>A from the father, rarely reported in pseudohypoaldosteronism type 1 with sodium epithelial channel destruction (PHA1b) patients. Case 2 received timely symptomatic treatment and management after obtaining these results, which improved the clinical crisis. Our results suggest that the compound heterozygous splicing variants in SCNN1A were responsible for PHA1b in these Chinese fraternal twins. This finding extends the knowledge of the variant spectrum in PHA1b patients and highlights the application of exome sequencing in critically ill newborns. Finally, we discuss supportive case management, particularly in maintaining blood potassium concentration.

Short-term outcome of ascending aorta replacement combined with total aortic arch fenestration technique for acute type A aortic dissection / 中国胸心血管外科临床杂志

@#Objective    To report our clinical experience and outcomes of thoracic endovascular aortic repair (TEVAR) for acute Stanford type A dissection using ascending aorta replacement combined with implantation of a fenestrated stent-graft of the entire aortic arch through a minimally invasive technique. Methods    From 2016 to 2020 in our hospital, 24 patients (17 males and 7 females, aged 45-72 years) with complicated Stanford type A aortic dissection, underwent replacement of the proximal ascending aorta with TEVAR. None of the patients with dissection involved the three branches of the superior arch, and all patients were replaced with artificial blood vessels of the ascending aorta under non-hypothermic cardiopulmonary bypass, preserving the arch and the three branches above the arch, and individualized stent graft fenestration. Results    Surgical technical success rate was 100.0%. There was no intraoperative complication or evidence of endo-leak in 1 month postoperatively. Hospital stay was 10±5 d. During postoperative follow-up, the stent was unobstructed without displacement, the preserved branch of the aortic arch was unobstructed, and the true lumen of the descending aorta was enlarged. Conclusion     This hybrid technique by using TEVAR with fenestrated treatment is a minimally invasive and effective method to treat high-risk patients with acute Stanford type A aortic dissection.

Prognostic factors of primary osteosarcoma patients under 20 years old undergoing radical surgery / 中国医师杂志

Objective:To explore the independent prognostic factors of primary osteosarcoma patients under 20 years old after radical surgery, so as to predict the prognosis and survival of patients.Methods:The clinicopathological data of 1 339 patients with primary osteosarcoma diagnosed and registered in the National Cancer Institute Surveillance, epidemiology and outcome database (SEER) from 1984 to 2014 were retrospectively analyzed. Kaplan Meier method was used to calculate the survival rate of patients. Log rank test was used to evaluate the survival difference. Cox multivariate analysis was used to determine the independent prognostic factors of osteosarcoma after radical surgery factor.Results:The results of primary osteosarcoma patients undergoing radical surgery found that 34 cases (2.54%) aged 0-5 years old, 236 cases (17.63%) aged 6-10 years old, and 600 cases (44.81%) aged 11-15 years old and 469 cases (35.02%) aged 16-20 years old. The median survival time was 68 months. Among them, 757(56.53%) were male and 582(43.47%) were female. Among the 1 339 cases, 986 were white (73.64%), followed by black 230(17.18%), and 123 other races (9.18%). Multivariate analysis revealed that males ( HR=1.242; 95% CI:1.024-1.505), axial osteosarcoma ( HR=1.589; 95% CI:1.179-2.166), and regional invasion of osteosarcoma ( HR=1.470; 95% CI:1.156-1.870), distant metastasis ( HR=3.536; 95% CI:2.725-4.589) were independent risk factors for overall survival. Other types of osteosarcoma ( HR=0.471; 95% CI:0.285-0.779) were independent protective factors for overall survival. Conclusions:Based on the SEER database, this study identified independent prognostic factors for patients with primary osteosarcoma under the age of 20 who underwent radical surgery, which will help clinicians formulate individualized medical strategies and predict patients′ prognosis.

Effects of Puerarin on Bone Mineral Density around the Femoral Prosthesis of Elderly Women after Osteopo-rotic Fracture Artificial Hip Joint Replacement / 中国药房

OBJECTIVE:To investigate the effects of puerarin on bone mineral density around the femoral prosthesis of el-derly women after osteoporotic fracture artificial hip joint replacement. METHODS:99 elderly women after osteoporotic fracture artificial hip joint replacement were divided into control group(49 cases)and test group(50 cases)according to random number table. Control group received conventional treatment:calcium carbonate and vitamin D3+alendronate sodium+salmon calcitonin;test group was additionally given Puerarin injection 200-400 mg dissolved in Glucose injection 500 ml intravenously,qd,on the basis of control group. A treatment course lasted for 20 d,and both groups received 2 courses of treatment. The hip joint function score and bone mineral density around the femoral prosthesis of 2 groups were observed and compared after surgery,and the oc-currence of ADR was also observed. RESULTS:3 and 2 patients withdrew from control group and test group,respectively. 18 months after surgery,the patients with hip joint function score ranged 70-79 in test group was significantly less than in control group;the rate of excellent hip joint function score in test group was significantly higher than in control group,with statistical significance (P0.05);bone mineral density in R6-R7 range was signifi-cantly higher than control group(89.58% vs. 69.57%),with statistical significance(P<0.05). The prosthesis loosening was not found in both groups,and ADR was also not found as fever,erythra,nausea,vomiting,headache,dizziness,etc. CONCLU-SIONS:For the use of puerarin in elderly women after osteoporotic fracture artificial hip joint replacement,puerarin can increase the periprosthetic femur bone mineral density with good safety.

Puerarin promotes the proliferation of osteoblasts in older female patients with osteoporosis / 中国组织工程研究

BACKGROUND:In recent years, there are many animal studies and osteoblast studies on the anti-osteoporotic effects of puerarin, a kind of phytoestrogen. But few of them are reported on the effects of puerarin on osteoblasts in older patients with osteoporosis. OBJECTIVE: To observe the influence of puerarin on the proliferation ofin vitro cultured osteoblasts from older female patients with osteoporosis. METHODS:The older female patients with osteoporotic femoral neck fractures who underwent artificial femoral head replacement were included in this study. The femoral neck cancelous bone removed during the operation was colected. Primary cancelous bone osteoblasts were cultured using explant culture method. The cels were sub-cultured to the required amounts. Osteoblasts from the control group were cultured with culture medium without puerarin. Osteoblasts from the 0.01, 0.1, and 1 μmol/L puerarin groups were cultured with culture medium containing the corresponding concentrations of puerarin. After in vitro co-culture with different concentrations of puerarin for 1, 3, 5 days, the proliferation of osteoblasts was observed. RESULTS AND CONCLUSION:With the increase in the concentration of puerarin, the proliferative activity of osteoblasts constantly increased at different time points (P < 0.05). At 3 days of culture, cel absorbance value in each group reached the peak level. These results suggest that 0.01, 0.1, 1μmol/L puerarin promotes the proliferation of osteoblasts in older patients with osteoporosis in a concentration-dependent manner.

Effects of erythromycin on γ-glutamyl cysteine synthetase and interleukin-1β in hyperoxia-exposed lung tissue of premature newborn rats / Efeitos da eritromicina sobre a γ-glutamil-cisteína-sintetase e a interleucina-1β no tecido pulmonar exposto à hiperóxia de ratos recém-nascidos prematuros

Objective: To explore the effect of erythromycin on hyperoxia-induced lung injury. Methods: One-day-old preterm offspring Sprague-Dawley (SD) rats were randomly divided into four groups: group 1, air + sodium chloride; group 2, air + erythromycin;group 3, hyperoxia + sodium chloride; and group 4, hyperoxia + erythromycin. At one, seven, and 14 days of exposure, glutathione (GSH) and interleukin-1 beta (IL-1 beta) were detected by double-antibody sandwich enzyme-linked immunosorbent assay (ELISA), and bicinchoninic acid (BCA) was used to detect GSH protein. γ-glutamine-cysteine synthetase (γ-GCS) mRNA was detected by reverse transcription-polymerase chain reaction (RT-PCR). Results: Compared with group 1, expressions of GSH and γ-GCS mRNA in group 3 were significantly increased at one and seven days of exposure (p < 0.05), but expression of γ-GCS mRNA was significantly reduced at 14 days; expression of IL-1 beta in group 3 was significantly increased at seven days of exposure (p < 0.05), and was significantly reduced at 14 days. Compared with group 3, expressions of GSH and γ-GCS mRNA in group 4 were significantly increased at one, seven, and 14 days of exposure (p < 0.05), but expressions of GSH showed a downward trend at 14 days; expression of IL-1 beta in group 4 was significantly reduced at one and seven days of exposure (p < 0.05). Conclusions: Changes in oxidant-mediated IL-1 beta and GSH are involved in the development of hyperoxia-induced lung injury. Erythromycin may up-regulate the activity of γ-GCS, increasing the expression of GSH, inhibiting the levels of oxidant-mediated IL-1 beta and alleviating hyperoxia-induced lung injury via an antioxidant effect. .

Objetivo: Explorar o efeito da eritromicina sobre lesões pulmonares induzidas por hiperóxia. Métodos: Uma prole de ratos Sprague-Dawley (SD) prematuros com um dia de vida foi dividida aleatoriamente em quatro grupos: grupo 1 ar + cloreto de sódio, grupo 2 ar + eritromicina, grupo 3 hiperóxia + cloreto de sódio e grupo 4 hiperóxia + eritromicina. Com um, sete e 14 dias de exposição, foram detectadas Glutationa (GSH) e Interleucina-1 beta (IL-1 beta) pelo ensaio imunossorvente ligado à enzima (ELISA), e o ácido bicinconinico (BCA) foi utilizado para detectar a proteína GSH. O mRNA da γ-glutamil-cisteina-sintetase (γ-GCS) foi detectado por reação em cadeia da polimerase via transcriptase reversa (RT-PCR). Resultados: Comparadas ao grupo 1, as expressões do mRNA da GSH e da γ-GCS no grupo 3 aumentaram significativamente com um e sete dias de exposição (p < 0,05), porém a expressão de mRNA da γ-GCS diminuiu significativamente aos 14 dias; a expressão de IL-1 beta no grupo 3 aumentou significativamente aos 7 dias de exposição (p < 0,05) e diminuiu significativamente aos 14 dias. Comparadas ao grupo 3, as expressões do mRNA da GSH e da γ-GCS no grupo 4 aumentaram significativamente com um, sete e 14 dias de exposição (p < 0,05), porém as expressões de GSH mostraram uma tendência de queda aos 14 dias; a expressão de IL-1 beta no grupo 4 foi reduzida significativamente com um e sete dias de exposição (p < 0,05). Conclusões: As variações de IL-1 beta e GSH mediadas por oxidantes estão envolvidas no desenvolvimento de lesão pulmonar induzida por hiperóxia. A eritromicina poderá regular positivamente a atividade da γ-GCS, aumentando a expressão de GSH, inibindo os níveis de interleucina-1beta mediada por ...

Percutaneous vertebroplasty with low-dose bone cement for acute osteoporotic vertebral compression fractures / 中国组织工程研究

BACKGROUND:Percutaneous vertebroplasty technique has become an effective means for clinical treatment of spinal osteoporotic fractures, but there is the risk of bone cement leakage. OBJECTIVE:To explore the clinical effect of percutaneous vertebroplasty with low-dose bone cement for acute osteoporotic vertebral compression fractures. METHODS:From September 2008 to February 2011, 32 patients with osteoporotic compression fractures were treated by percutaneous vertebroplasty. According to the dose of bone cement, the patients were divided into low dose group (2-4 mL) and routine dose group (4-6 mL). In addition, another patients who were hospitalized over the same period for acute osteoporotic compression and could not receive vertebroplasty due to urgical contraindication served as control group. RESULTS AND CONCLUSION:The pain relief and vertebral height restoration rate of the low dose group and routine dose group were significantly better than the control group (P<0.05). The bone cement leakage rate and last fol ow-up incidence of adjacent segment vertebral fractures of the low dose group were also significantly lower than those in the routine dose group (P<0.05). Vertebroplasty with modified low dose bone cement can achieve satisfactory clinical effects, and effectively reduce the leakage of bone cement and incidence of adjacent segment secondary fractures.

Hyaluronidase with α - lipoic acid and Chinese medicine in the treatment of diabetic vitreous hemorrhage / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To study the effectiveness of hyaluronidase periocular injection combined with α - lipoic acid and Chinese medicine in the treatment of diabetic vitreous hemorrhage. METHODS: Retrospective analysis of 67 patientswith proliferative diabetic retinophathy ( PDR ) and vitreous hemorrhage, were divided into two groups: treatment group and control group. There were 32 cases in every group, the treatment group were giving hyaluronidase periocular injection combined with α - lipoic acid intravenously and with traditional Chinese medicine in promoting blood circulation to remove blood stasis, control group were only given Chinese medicine treatment in promoting blood circulation to remove blood stasis. RESULTS: Followed up 2-3mo, the total efficiency of treatment group ( 78%) was better than control group (57%), there was statistically significant difference ( P0. 05). CONCLUSION: Hyaluronidase periocular injection combined with α-lipoic acid and Chinese medicine in the treatment of PDR combined with vitreous hemorrhageis more effective than only use Chinese medicine. But it only has effect for the early, over 2wk, it has no significant effect.

Clinical study of low-dose bone cement injection for treating osteoporotic compression fractures / 重庆医学

Objective To explore the clinical effect of low-dose bone cement injection in percutaneous vertebroplasty for treating osteoporotic vertebral compression fractures .Methods 41 cases of osteoporotic vertebral compression fractures from February 2009 to February 2012 were treated with percutaneous vertebroplasty .The patients were divided into the low-dose group and the conventional dose group according to the amount of bone cement injection .The postoperative VAS score ,cement leakage rate ,verte-bral height restoration degree and incidence rate of adjacent segment fracture were observed ,evaluated and compared .Results The follow-up period ranged from 3 months to 15 months(average 11 .2 months) .The postoperative pain relief effect in the conventional dose group and the low dose group was similar .The vertebral height restoration rate of the conventional dose group was superior to that of the low-dose group .In the aspects of the bone cement leakage rate and adjacent segment vertebral secondary fracture ,the low-dose group was superior to the conventional dose group .Conclusion In the procedure of percutaneous vertebroplasty ,applying the low-dose bone cement injection can reach the satisfactory clinical effect ,at same time can effectively reduce the complication oc-currence rate of bone cement leakage and adjacent segments secondary fractures .

Transfer RNAs inhibit the growth of L929 cells in vitro / 中国应用生理学杂志

<p><b>AIM</b>To explore the effects of tRNA on the growth of mammalian cells.</p><p><b>METHODS</b>L929, NIH3T3, MCF-7 and PC12 cells were seeded in 96 well culture plate individually, and incubated at 37 degrees C in 5% CO2 for 4 h, the tRNAs from different species were added to the culture media individually. After certain time of incubation, the viability of the cells was evaluated by the MTT methods. Sub-confluent L929 cells were incubated with 200 microg/ml ytRNA for different times, then the cells were pooled and analyzed with flow cytometry assay.</p><p><b>RESULTS</b>tRNA specifically inhibited the growth of L929 cells in a dose-dependent manner. The sizes of tRNA-treated cells showed larger sizes and longer processes than those of untreated cells. Flow cytometric analysis further showed that most of tRNA-treated cells were arrested in S phase of the cell cycle.</p><p><b>CONCLUSION</b>The cell growth inhibitory effects of tRNAs were caused mainly by their degraded fragments. The results suggested that tRNA or its degraded fragments might play important roles in regulation of cell proliferation.</p>

Effects of Hyperoxia on Mitochondrial Multienzyme Complex Ⅲ and V in Premature Newborn Rat Lung / 华中科技大学学报（医学）（英德文版）

To investigate the effects of hyperoxia on mitochondrial multienzyme complex Ⅲ (cytochrome, Cytb) and V (ATPase6, 8) in premature newborn rat lung, the l-day-old preterrn SD rats were randomly assigned to hyperoxia group and air group. The rats in hyperoxia group were con- tinuously exposed to 85% oxygen and those in air group to room air. After 1, 4, 7, 10, 14 day(s) of exposure, these rats were killed, total lung RNA was extracted and Cytb, ATPase6, 8 mRNA were detected by reverse transcription polymerase chain reaction (RT-PCR). Western blotting was used to detect the expression of Cytb protein in lung tissue. The results showed that compared with air group, Cytb mRNA expression was significantly increased (P>0.05) after 1, 4 day(s) of exposure. The general tendency decreased after 7 days, and its expression became weak but difference in mRNA expression between the two groups was not significant (P>0.05). ATPase6 mRNA expression was significantly increased 1 day after the exposure (P<0.05) and did not show any significant change 4, 7, 10 days after the exposure (P>0.05). At the 14th day, ATPase6 mRNA expression was significantly increased (P<0.05). ATPase8 mRNA expression did not show any significant change 1, 4, l0 day(s) after the exposure (P>0.05). At the 7th and 14th day, ATPase8 mRNA expression was significantly increased (P<0.05). Western blotting showed that Cytb protein expression was increased 1,4 day(s) after the exposure, but the difference between the two groups was not significant (P>0.05). The gen- eral tendency was decreased after 7 days, and its expression became weak but difference was not sig- nificant 7, 10 days after the exposure (P>0.05). At day 14 its expression became significantly weak (P<0.05). We are led to conclude that exposure to high concentrations of oxygen can significantly change the expression of Cytb and ATPase6, 8, which results in uncoupling of oxidative phosphorylation in mitochondrial respiration chain, and plays an important role in the mechanism of hyperoxia-induced lung injury.

Study on relationship between polymorphism sites of TIM-3 and allergic asthma in a population of adult Hans from Hubei province of China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate two single nucleotide polymorphism sites of the promoter region in T cells immunoglobulin domain and mucin domain protein-3 (TIM-3) and detect their relationship with allergic asthma in a population of adult Hans from Hubei province of China.</p><p><b>METHODS</b>The polymorphisms were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allelic specific polymerase chain reaction (ASPCR). The genotype and allele frequencies were calculated and analyzed.</p><p><b>RESULTS</b>The genotype frequencies of CC, CT and TT in -1541 C/T polymorphism were 0.961, 0.039 and 0 respectively in the healthy population and were 0.935, 0.065 and 0 respectively in the allergic asthma population. No significant difference in genotype and alleles frequencies was found between the allergic asthma patients and control subjects (P=0.314, P=0.321). The genotype frequencies of GG, GT and TT in -574 T/G polymorphism were 0.992, 0.008 and 0 respectively in the healthy population and were 0.941, 0.059 and 0 respectively in the allergic asthma population. There was significant difference in genotype and allele frequencies between the allergic asthma patients and control subjects (P=0.046, P=0.048).</p><p><b>CONCLUSION</b>There are polymorphism sites of the promoter region in TIM-3 , and one of these sites, the -574 G/T polymorphism site, may be associated with allergic asthma in the population of adult Hans from Hubei province of China.</p>

Scientific Management in Outpatient Chemical Drug Pharmacy / 中国药房

OBJECTIVE:To explore a fair,reasonable and legal management for outpatient chemical drug pharmacy.METHODS:By combining our experiences in outpatient chemical drug pharmacy of our hospital reviewing a considerable literature,the problems occurred in daily pharmacy management were analyzed,and the coping strategies such as flexible shift arrangement system,comprehensive drug control and sustained improvement etc were applied.RESULTS:The scientific management contributed to a reasonable pharmacy management,reduced error rate,ensured the drug quality,greatly shortened the dispensing time,and due to which,high-quality service was available and the allocation of human resources was optimized to some degree.Patients' satisfaction degree raised to 97.8% of Mar.2008 from 80% of Apr.2006.CONCLUSI-ON:A fair,reasonable and legal pharmacy management was achieved by means of scientific,human and standard management,accordingly,the hardware and software in pharmacy brought about a maximal efficiency and effectiveness of management.

CD62p expression in platelet during the preparation course of Cryopreservated platelet-rich plasma / 中国实验血液学杂志

In order to explore the factors that affect CD62p expression in platelet during the whole course of cryopreservated platelets preparation, CD62p expression of platelet was evaluated by flow cytometry assay. The whole course of cryopreservated platelets preparation in order included whole blood collection, centrifugation for fresh platelet-rich plasma preparation, addition of dimethyl sulfoxide, and freeze in -80 degrees C refrigerator and thaw in 38 degrees C water bath. Result showed that the CD62p expressed slowly from whole blood collection to addition of dimethyl sulfoxide, but expressed abruptly after freeze and thaw and it occupied 82 per cent of the whole expression. It was concluded that the whole blood collection, centrifugation for fresh platelet enriched plasma preparation and addition of dimethyl sulfoxide were optimized in the whole course, but the damage to platelets in the whole course of cryopreservation could not be avoided. It suggests that improved techniques are needed to reduce the damage to cryopreservated platelets.