Neonatal Smith-Kingsmore syndrome: case report and literature review / 中国新生儿科杂志

Objective:To study the clinical and genetic features of neonatal Smith-Kingsmore syndrome (SKS).Methods:The clinical data of a newborn with SKS admitted to our hospital in November 2021 were reviewed. Using "Smith-Kingsmore", "rapamycin gene", "newborn", "premature infant", "the mammalian target of rapamycin", "MTOR", "mTOR", "Smith-Kingsmore syndrome", "megalencephaly", "macrocephaly" and "hemimegalencephaly" as keywords, databases including CNKI, Wanfang Database, VIP database, PubMed, Embase, Web of Science and the Cochrane Library were searched from the date of establishment to January 1, 2022. The clinical and genetic features of neonatal SKS from published literature were summarized.Results:The case admitted to our hospital was a male preterm infant. The presenting symptoms were groan and hypotonia. The facial abnormalities included macrocrania, ocular hypertelorism, depressed nasal bridge and low-set ears. Brain MRI showed lateral ventricle enlargement. Whole-genome sequencing (WGS) showed mTOR gene nonsense heterozygous mutation (NM_004958.4:c.7255G>A:p.Glu2419Lys). Neither father nor mother had any pathogenic gene mutations. The infant had seizure at 2-month and phenobarbital was effective reducing seizure. Gross motor delay was present at 3-month. Sixteen related articles were retrieved, including eight articles with 10 neonatal cases. Among them, 6 cases were male. The main clinical features were megalencephaly or hemimegalencephaly (9/10), facial developmental malformation (8/10), hypotonia (6/10), large-for-gestational age (LGA) infants (5/10), cerebral ventricle dilation (4/10) and abnormal corpus callosum (4/10). All the gene mutations were missense mutations, including c.5395G>A(p.Glu1799Lys) mutation in 5 cases, c.4448G>T(p.Cys1483Phe) mutation in 1 case, c.4448G>T(p.Cys1483Tyr) mutation in 1 case, c.7235A>T(p.Asp2412Val) mutation in 1 case, c.5663T>G(p.Phe1888Cys) mutation in 1 case, c.5390C>T(p.Thr1799IIe) mutation in 1 case.Conclusions:The clinical phenotypes of neonatal SKS are diverse, including megalencephaly, facial malformation, LGA and hypotonia. The brain MR findings included (hemi) megalencephaly, cerebral ventricle dilation and corpus callosum hypoplasia. Most of the gene mutations are missense mutations and c.5395G>A(p.Glu1799Lys) is the hotspot.

Early risk factors for the failure of the INSURE strategy in premature infants with respiratory distress syndrome / 中国新生儿科杂志

Objective:To study the early risk factors for the failure of INtubation-SURfactant-Extubation (INSURE) strategy in preterm infants with respiratory distress syndrome (RDS).Methods:From November 2016 to October 2020, preterm infants with gestational age (GA) <34 weeks admitted to our hospital were enrolled in this study. Infants required invasive ventilation within 72 hours after extubation were assigned into INSURE failure group and other infants INSURE success group. SPSS 25.0 was used to compare the clinical data of the two groups and Logistic regression analysis was used to analyze the independent risk factors of INSURE failure.Results:The incidence of INSURE strategy failure was 25.0% (34/136). The antenatal dexamethasone use, GA, birth weight, 1 min Apgar score, 5 min Apgar score, respiratory index (PaO 2/FiO 2) and mean hemoglobin (Hb) in INSURE failure group were significantly lower than INSURE success group ( P<0.05). INSURE failure group had significantly delayed use of first-time pulmonary surfactant (PS), longer duration of positive pressure ventilation resuscitation, higher respiratory score in Apgar, higher procalcitonin (PCT) level, more placental chorioamnionitis and more RDS radiological grade ≥3 cases than INSURE success group ( P<0.05). Logistic regression analysis showed that respiratory score ≥8 ( OR=10.609, 95% CI 2.630~42.797, P=0.001), RDS radiological grade ≥ 3 ( OR=8.813, 95% CI 2.022~38.423, P=0.004) and Hb<145 g/L ( OR=9.074, 95% CI 1.771~46.147, P=0.008) were independent risk factors for INSURE failure. And antenatal dexamethasone use ( OR=0.270, 95% CI 0.075~0.978, P=0.046) was a protective factor for INSURE failure. Conclusions:Respiratory score ≥8 in Apgar, RDS radiological grade ≥3, Hb<145 g/L and the insufficient use of antenatal dexamethasone are independent risk factors for INSURE failure.

ALKBH5 suppresses migration and invasion of human trophoblast cells by inhibiting epithelial-mesenchymal transition / 南方医科大学学报

OBJECTIVE@#To investigate the effects of ALKBH5 on migration, invasion and epithelial-mesenchymal transition (EMT) of human trophoblast cells.@*METHODS@#The expression plasmid of ALKBH5 or a negative control plasmid (ALKBH5-NC) was transfected in human trophoblast HTR-8 /SVneo cells, and the expressions of ALKBH5 mRNA and protein were detected by qRT-PCR and Western blotting. Transwell assay was used to assess the changes in migration and invasion abilities of the trophoblast cells after the transfection. Western blotting was performed to detect the expressions of EMT-related proteins in the cells including vimentin, fibronectin, E-cadherin, N-cadherin, MMP9 and MMP2.@*RESULTS@#ALKBH5 mRNA and protein expressions were significantly higher in ALKBH5 group than in the control group (@*CONCLUSIONS@#ALKBH5 is involved in the pathogenesis of preeclampsia by inhibiting EMT of trophoblast cells and hence reducing their migration and invasion abilities.

Clinical analysis of seven cases of rare hemolytic disease of the newborn / 中华儿科杂志

Objective@#To summarize the clinical features of 7 rare cases of hemolytic disease of newborn (HDN), and to improve the understanding of rare HDN.@*Methods@#Data of clinical information, laboratory findings, treatments and outcomes were collected and analyzed for four cases with HDN due to anti-M, two cases due to anti-Kidd, and one case due to anti-Duffy. All of them were admitted to the Department of Neonatology, Beijing Children's Hospital Affiliated to Capital Medial University from July 2007 to June 2017.@*Results@#Among the four MN hemolytic babies, two were males and two were females. Jaundice was found in three cases. Two cases had hyperbilirubinemia, one of them had severe hyperbilirubinemia. All the four cases developed anemia, including severe anemia in three cases. Two cases of Kidd hemolytic disease and 1 case of Duffy hemolytic disease had jaundice and anemia, but did not reach the level of severe hyperbilirubinemia and severe anemia. MN hemolytic disease babies got negative results in direct antiglobulin test, whereas the Kidd and Duffy hemolytic disease babies had positive findings in direct antiglobulin test. None of the babies had blood transfusion, and they were discharged from the hospital.@*Conclusions@#Without maternal and fetal blood group incompatibility (ABO or Rh blood-group system), for early onset of jaundice, severe jaundice or anemia, antiglobulin test to mother and child earlier should be administered, and MN, Kidd, Duffy and other rare hemolytic disease of the newborn should be pay attention to.

Clinical characteristics of neonatal hemolytic disease of anti-M or Rhesus system / 中华围产医学杂志

ObjectiveTo analyze the clinical manifestation of hemolytic disease of the newborn (HDN) due to anti-M and Rhesus system.MethodsClinical information was collected and analyzed for three cases with HDN due to anti-M and 64 with Rhesus hemolytic disease, who were admitted to Department of Neonatology, Beijing Children's Hospital Affiliated to Capital Medical University from February 2011 to January 2015, as well as another 28 cases of HDN due to anti-M with complete information retrieved from literature in Wanfang and China National Knowledge lnfrastructure (CNKI) Database from 1992 to 2014.Chi-square test was performed for statistical analysis.ResultsTwo out of the 64 Rh hemolytic babies gave up therapy due to kernicterus and another two out of the 31 MN hemolytic babies, obtained from literature, died 24 h after birth because of anemia or edema, while the rest survived. Although more babies were the first child of the family in HDN due to anti-M than those of Rh hemolytic disease [26%(8/31) vs 9%(6/64),χ2=4.487, P=0.034], but lower incidence of jaundice [81%(25/31) vs 98%(63/64),χ2=9.686,P=0.002], less proportion of presentation of jaundice within 24 h after birth [29% (9/31) vs 64%(41/64),χ2=10.279,P=0.001] and lower positive rate of direct antiglobulin test [39%(12/31) vs 100%(64/64), Fisher exact test,P=0.000] were shown in HDN due to anti-M. No significant difference was found in the incidences of hyperbilirubinemia [58%(18/31) vs 66%(42/64),χ2=0.513], severe hyperbilirubinemia [23%(7/31) vs 36%(23/64),χ2=1.724], anemia [81%(25/31) vs 89%(57/64),χ2=1.253] and severe anemia [29%(9/31) vs 34%(22/64),χ2=0.271] between HDN due to anti-M and Rh hemolytic babies (allP>0.05).ConclusionsHDN due to anti-M and Rhesus hemolytic disease can cause severe pathological jaundice and/or anemia in newborns. Indirect antiglobulin test should be offered when direct antiglobulin test is negative which is helpful in the diagnosis of HDN due to anti-M.

Endovascular treatment for aorto-bi-iliac artery total occlusive disease / 中华普通外科杂志

Objective To investigate the feasibility, safety and efficiency of endovascular treatment for patients with aorto-bilateral-iliac artery total occlusive disease.Methods A total of 35 patients with aorto-bi-iliac artery total occlusive disease treated with endovascular therapy in Peking Union Medical College Hospital and the First Hospital of Shijiazhuang between Jan 2012 and Dec 2013 were retrospectively analyzed.Results There were 33 males and 2 females, mean age (67 ± 6) years treated during the study period.Technical success rate was 100％.129 bare stents and 4 covered stents were implanted.There were no peri-operative death.Postoperative leg ankle brachial index (ABI) improved significantly (0.86 vs.0.28, P ＜ 0.28).Postoperative complications occurred in 2 patients (5.7％), including brachial artery thrombosis and rupture of external iliac artery post-dilation.The mean follow-up period was 16.5 months (2-28 months).Two patients (5.7％) were lost to follow up.Re-intervention was performed in 3 patients (8.6％) due to reocclusion of the stents.Primary patency was 91％ (30/33) Conclusions Endovascular treatment is effective for aorto-bi-iliac artery total occlusive disease with low complications and acceptable mid-term patent rate.

Pathological changes of vascular tissue after rabbit limb replantation with different methods of cryopreservation / 中国组织工程研究

BACKGROUND:The cryopreservation of single tissue has achieved great advancement and is gradual y applied in clinics. However, the cryopreservation of complex tissue is rarely reported. OBJECTIVE:To investigate the morphological change in rabbit limb tissue after replantation through different rewarming methods, find the best rewarming methods of compound textured blood vessels, and provide theoretical basis for the feasibility of limb replantation after long-term cryopreservation. METHODS:Thirty New Zealand white rabbits were randomly divided into control group, slow freezing-slow thawing group, and slow freezing-rapid thawing group. The right posterior limbs of al the rabbits were cut off 1 cm above the knee joint. Except control group, the latter two groups were given limb replantation after thawing, and then the right posterior limb was again cut off after the replanted limbs were survived for 6 hours. For al groups, the histological changes and gross observation in aorta tissue were observed by light microscopy and transmission electron microscope, and the results were analyzed with statistical methods. RESULTS AND CONCLUSION:In the slow freezing-slow thawing, slow freezing-rapid thawing groups, the pathological changes (gross specimen, light microscope, electron microscope) of rabbit limbs 6 hours after replantation were worse than those in control group. Compared with slow freezing-rapid thawing group, better integrity of endothelial cells and less damage of the organel es were found in slow freezing-slow thawing group. Through deep cryogenic freezing-thawing process, rabbit limb blood vessels can maintain the structural integrity after replantation and survived at 6 hours. Slow freezing-slow thawing is better than slow freezing-rapid thawing for the preservation of severed limbs, providing evidences for the long-term survival fol owing a deep cry ogenic treatment after the severed limb replantation.

Feasibility study of no nasal packing after endoscopic sinus surgery for chronic sinusitis / 中国医师进修杂志

Objective To compare the efficacies between nasal packing and no nasal packing after endoscopic sinus surgery for chronic sinusitis,and explore the feasibility of no nasal packing after endoscopic sinus surgery.Methods Eighty-two type 1 or type 2 chronic sinusitis patients who received endoscopic sinus surgery under general anesthesia were divided into no nasal packing group (44 cases,75 sides) and nasal packing group (38 cases,65 sides) by random digits table method.The patients in 2 groups were taken preoperative anti-inflammatory and regulation blood pressure treatment.The volume of bleeding,postoperative pain (visual analogue score,VAS),degree of mucosal edema,efficacy and postoperative complications between 2 groups were compared.Results There were no statistical difference in volume of bleeding and efficacy between 2 groups (P ＞ 0.05).The postoperative VAS in no nasal packing group was significantly lower than that in nasal packing group [(2.46 ± 0.54) scores vs.(5.49 ± 1.26) scores],there was statistical difference (P＜ 0.01).There was no statistical difference in mucosal edema score postoperative 1 week and 6 months between 2 groups (P ＞ 0.05),but the mucosal edema score postoperative 1 month in no nasal packing group was significantly lower than that in nasal packing group [(1.32 ±0.63) scores vs.(3.52 ±0.72) scores],there was statistical difference (P ＜ 0.01).Postoperative comphcations in nasal packing group were significantly more than those in no packing group.Conclusion No nasal packing can be performed for type 1 or type 2 chronic sinusitis patients who has no significant bleeding after endoscopic sinus surgery under general anesthesia,it is actually beneficial of relieving distress of the patient and reducing postoperative complications.

Analysis of the related factors to pharyngocutaneous fistula after total laryngectomy / 中国医师进修杂志

Objective To analyze the related factors,and discuss the causes and prevention measures of pharyngocutaneous fistula caused by total laryngectomy.Methods The complete chnical data of 118 patients underwent laryngeal ancer surgery were analyzed retrospectively.Analyzed the relationship between pharyngocutaneous fistula and the factors of sex,age,pre-operative nutrition states,preoperative radiotherapy,prior tracheotomy,neck dissection,tumor position,clinical stage of tumor,patho-staging,post-operative infection comobidity with analysis of single factor.Results Among the 118 cases of laryngeal carcinoma,17 cases were pharyngocutaneous fistula after operation,the incidence was 14.4％ (17/118).According to the statistical analysis results,the predominant influencing factors in the causation of pharyngocutaneous fistula were:pre-operative nutrition states,pre-operative radiotherapy,clinical stage of tumor and post-operative infection.Concusion Pharyngocutaneous fistula after total laryngectomy is related to many factors,avoiding the above mentioned factors can reduce the rate of fistula and improve the life quality.

Auditory function after uvulopalatopharyngoplasty in adult patients with severe obstructive sleep apnea-hypopnea syndrome / 中国医师杂志

Objective To investigate the changes of uvulopalatopharyngoplasty on the auditory function in adult patients with severe obstructive sleep apnea-hypopnea syndrome (OSAHS).The possible mechanism of hypoxemia was analyzed,and hypercapnia might affect auditory function and the effect of operation to hearing was improved.Methods A total of 82 adult patients who were made a diagnosis by polysomnography (PSG) with severe OSAHS had been diagnosed by pure tone audiometry,tympa-nometry,auditory brainstem responses (ABR),and otoacoustic emissions (OAE) before and 6 months after surgical treatments.The control group included 43 non-snoring healthy people through the same line of the above test.Results (1)Among 82 patients who underwent uvulopalatopharyngoplasty,symptoms were resolved in 51 patients,significantly improved in 24 patients,and somewhat improved in7 patients at 6 months followed-up,yielding a total effective rate of 100％.(2)There were no significant differences in hearing threshold across 250 to 4 000 Hz on pure tone audiometry between OSAHS and control groups (P ＞ 0.05),although hearing thresholds at high frequencies showed significant differences (P ＜ 0.05).(3)The latencies of ABR waves Ⅰ and Ⅴ in the OSAHS group were significantly longer than control group (P ＜ 0.05).The interpeak lantency intervals of wave Ⅲ ～ Ⅴ in patients with OSAHS were longer than that in the control group (P ＜ 0.05).No significant difference was showed before and after surgery (P ＞ 0.05).(4)Distortion product otoacoustic emission (DPOAE) detection rate and amplitudes at all frequencies were poorer in OSAHS group before surgery compared with the control group (P ＜ 0.05),and significant changes were found after surgical treatments (P ＜ 0.05).Conclusions OSAHS can impair auditory function,probably from chronic hypoxia,which can be improved by surgical treatment in adult patients with severe OSAHS.

Effects of static magnetic fields on aerobes: Escherichia coli, Staphylococcus aureus and Bacillus subtilis / 生物医学工程学杂志

Nutrient agar medium was exposed in 0.085-0.092 T static magnetic fields for 12 h. Then we densities the optical densities at lamda = 600 (OD600) of Escherichia coli, Staphylococcus aureus and Bacillus subtilis in different culturing stage. The results were compared with those of control group in the normal geomagnetic field. The OD600 values of experimental groups of these three kinds of aerobes were significantly higher than those of control groups from 3h to 9h. However, after 11 h, there was no remarkable difference regarding the OD600 values between the two groups. The dissolved oxygen content of nutrient agar medium was determined by microtitration. The dissolved oxygen of nutrient agar medium under static magnetic for 12h increased 15% in average and there was significant difference when compared with the control. The results showed that the ferro-magnetic fields increased the dissolved oxygen content of nutrient agar medium significantly. These findings suggest that the effects of static magnetic fields on Escherichia coli, Staphylococcus aureus and Bacillus subtilis are related to the dissolved oxygen.

A randomized clinical trial of chemotherapy combined with oxaliplatin and cisplatin plus navelbine in the treatment of advanced non-small cell lung cancer / 中国肺癌杂志

<p><b>BACKGROUND</b>Cisplatin plus navelbine (NO) is a standard combination chemotherapy regimen for non-small cell lung cancer (NSCLC), but severe toxicities due to cisplatin often influence the quality of life in the patients, such as nausea and vomiting. The aims of this study are to evaluate the efficacy and toxicity of combined chemotherapy of oxaliplatin and cisplatin plus navelbine in treatment of advanced NSCLC.</p><p><b>METHODS</b>A total of 168 patients were randomly divided into NO group (n=83) and NP group (n=85).</p><p><b>RESULTS</b>The overall response rate was 38.6% in NO group and 40.0% in NP group respectively. 1-year survival rate was 33.7% in NO group and 31.8% in NP group. There was no significant difference in response rate and 1-year survival between the two groups (P > 0.05). The major side effects were myelosuppression, nausea/vomiting and neurotoxicity in the two groups. Incidences of leukopenia and nausea/vomiting were significantly lower in NO group than those in NP group (P < 0.05), but neurotoxicity in NO group was more obvious than that in NP group (P < 0.001).</p><p><b>CONCLUSIONS</b>The efficacy and 1-year survival of combined chemotherapy of oxaliplatin and cisplatin plus navelbine are similar in the treatment of advanced NSCLC. However, the side effects of oxaliplatin plus navelbine are lower except for neurotoxicity.</p>

Monitoring of the renal function changes during chemotherapy based on high-dose cisplatin in patients with lung cancer / 中国肺癌杂志

<p><b>BACKGROUND</b>To study the methods for monitoring nephrotoxicity of cisplatin in lung cancer chemotherapy.</p><p><b>METHODS</b>The serum urea nitrogen (BUN), creatine (Cr) and urine β2-microglobulin ( β2-MG),α1-microglobulin(α1-MG), albumin (Alb), transferrin (TRF), and retinol-binding-protein (RBP) were measured dynamically in 61 patients with lung cancer who received high-dose chemotherapy with DDP (80- 120 mg/m2) (totally 114 cycles), and some indexes of early nephrotxcity were screened.</p><p><b>RESULTS</b>At the early stage of chemotherapy (d1-5), the abnormal rates of urine β2-MG and α1-MG were much more predominant than those of other indexes (P < 0.001). The abnormal rates of serum BUN and Cr were increased significantly in the late period of chemotherapy (d10). There were abnormal elevation of urine β2-MG and/or α1-MG at the early stage of chemotherapy for the patients whose serum BUN and creatine were all abnormal at the late stage.</p><p><b>CONCLUSIONS</b>The urine β2-MG and /or α1-MG might be the valuable indexes for early diagnosis of nephrotoxicity in lung cancer chemotherapy with cisplatin.</p>

Investigation of Insoluble Particles Resulting From Five Kinds of Herbal Injections Mixed With Transfusion Fluid / 中国药房

OBJECTIVE:To investigate the effect of mixing herbal injections with transfusion fluid on production of insoluble particles.METHODS:To detect the amount of insoluble particles before and after mixing herbal injections with transfusion fluid with ZWF-4 particule counter.RESULTS:The insoluble particles increased obviously.CONCLUSION:It should be paid great attention to the increase of insoluble particles after mixing,as well as the relationship between the insoluble particles and adverse reactions.

Effects of ulinastatin on intestinal mucosal barrier after occlusion of portal vein in rats / 中国现代普通外科进展

Objective:To study the effect of portal vein occlusion on intestinal mucosal barrier in rats and the protection of ulinastatin to the injury,to present the experimental data for the clinical surgery.Methods:70 Sprague-Dawley rats were randomly divided into controlled group (n=10),operation group (n=30) and operation+medication group (n=30).The portal vein were occlused 40 min in the operation groups and operation+medication groups.2ml blood from portal vein,lymph nodes around appendix,1cm small intestine wall were taken for endotoxin levels,bacterial translocation and pathiology examinations in the all rats 280 mins after operation.The mocusal barrier and microscopic structure of intestine were observed.Results:Compared between the control group and the operation group,endotoxin levels,bacterial translocation rates rise greatly and gut structure change obviously in the latter.Compared between the operation group and operation+medication group,the former changes is also obvious.Conclusion:The occlusion of portal vein can leads the decrease of intestine mocusal barrier and the increase of its permeability.Ulinastatin has a good protective effect on the damages above.

Diagnosis of 385 Cases of Neonatal Congenital Heart Disease by Color Doppler Echocardiography and It's Clinical Significance / 中华围产医学杂志

5 mm had surgery in 100%. Conclusion Most severe CHD could be detected prenatally by fetal echocardiography, and the pregnancy should be terminated. The critical NCHD should be diagnosed by echocardiography for corrective or palliative surgery as early as possible in the first days of life. In mild cases of left to right shunts may close spontaneously, they should be followed up regularly.

Analysis of Clinical Features of 141 Senile Gastric carcinoma Cases / 昆明医科大学学报

In this paper,the authors reviewed 141 cases of senile gastric carcinoma,with 23 cases followed up.The clinical features,and the relationship between the longth of the course and the resection rate of the tumor have been analysed retrospectively.The results show that gas- tric carcinoma in the aged pepole has a characteristic of a longer history and higher resectable possibility,it is mainly from the canceration of gastric ulcer,well differentiated and low metastatic,and has a favourable prognosis and longer survival.Important suggestions to im- prove its resection rate and survival rate include making a follow-up gastroscopy for the aged pepole with a longer history of gastric diseases or peptic ulcers.For the aged patients who are over 50 with a long history of gastric ulcer or chronic intractable atrophic gastritis,it is rec- ommended to employ the surgery of gastrectomy and the R_Ⅱ mode of operation is of choice, and chemotherapy should be followed.

Controlling system of triple pulse vacuum sterilizer for dental use / 医疗卫生装备

The controlling system of triple pulse vacuum sterilizer for dental use adopts PIC single-chip computer as the controller. The information related to stream temperature and pressure of the stream and liquid mixture in the hermetic vessel is acquired and controlled. Linearization measurements of the temperature and pressure and fuzzy control technology are all involved in. The experiment result shows that the controlling system makes the sterilizer free from overshoot, steady-state error and non-robustness.