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Objective:To summarize the genetic etiology, clinical characteristics and outcomes of neonatal hypotonia in the early stage of NICU, to provide basis for clinicians to early identify diseases and choose reasonable treatments.Methods:The clinical data of neonates with hypotonia admitted to the Department of Neonatology of Children′s Hospital of Xinjiang Uygur Autonomous Region and People′s Hospital of Xinjiang Uygur Autonomous Region from July 2017 to July 2020 were analyzed.Results:A total of 49 children were enrolled in the study, all clinically manifested as unexplained hypotonia, accompanied by special appearance 29 cases(59.18%), metabolic abnormality 18 cases(36.73%), and cranial imagin abnormality 23 cases(46.93%). After gene sequencing a, total of 22(44.89%)patients were confirmed.Thirteen (26.53%) of them were copy number variation, and gene mutation in nine cases(18.36%). The oldest age of these patients was 3 years and 2 months now, while the youngest was 4 months.A total of 16 patients were dead(32.65%). Four (8.16%) patients were lost to follow-up.At present, eighteen (62.07%) patients had mental retardation, and eleven (37.93%) of whom still existed severe physical retardation.Conclusion:We could conduct genetic testing in NICU to improve the diagnosis rate of neonates with unexplained hypotonia, which have high rate of adverse events.Neonates with a clear diagnosis should be treated promptly and give the genetic counseling to reduce the risk for the next children.
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Phenylketonuria is a most common group of genetic metabolic diseases.Phenylketonuria is caused by enzymatic defects in the metabolic pathway,which is characterized by high blood phenylalanine concentration.Patients need early,reasonable treatment once diagnosis,otherwise there will be serious nervous system sequelae.Available treatments aim to decrease the blood phenylalanine concentration,reduce nervous system symptoms.The current primary treatment of phenylketonuria is the limitation of dietary phenylalanine intake.Considering the poor compliance with long-term eating restrictions and the heavy family burden,the application of new medicine such as trahydropterina cofactor,glycomacropeptide,large neutral amino acids can improve the therapeutic effect and living condition of phenylketonuria patients.In addition,recombinant phenylalanine ammonia lyase,hepatocyte transplantation,gene therapy,probiotics and other new treatments also seem to be a promising approach in the near future.
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Objective To study the clinical and imaging features of neonatal acute osteomyelitis.Method From 2011 to 2016,the clinical feature,laboratory results,pathogen,imaging features,treatment and prognosis of neonates who were diagnosed with acute osteomyelitis in NICU of People's Hospital of Xinjiang Uygur Autonomous Region were retrospectively studied.Result A total of 13 cases were enrolled during the study period,5 males and 8 females,with onset age of 7 ～30 d.8 cases had different degrees of fever and 5 of them showed dyspnea;8 cases had elevated skin temperature and swelling at the affected area;7 cases presented with irritability;6 cases had anorexia;all cases had elevated white blood cell count.Blood culture were taken immediately after their admission,and culture from the pus were taken for some patients.5 cases had positive blood culture and Staphylococcus aureus was the main pathogen.6 cases had positive pus culture,and 4 cases showed gram positive (G +) bacteria and 2 cases gram negative (G-) bacteria.Humerus and tibia were the main foci of the infection.4 cases had X-ray examination within 7 days of onset showing soft tissue swelling and no sign of bone destruction.13 cases had X-ray examination at 7 to 14 days of disease.Among them only 1 case showed soft tissue swelling,and the rest 12 cases had different levels of bone destruction and periosteal reaction.2 cases had X-ray examination after 14 days of disease,showing stiffening ring,inflammatory changes and periosteal reaction.All patients were treated with broad-spectrum antibiotics after admission,and the affected limbs were immobilized.3 cases had further surgical treatment.11 patients recovered and were discharged,1 patient was treated at local hospital after diagnosis and 1 patient refused further treatment due to serious complications after 35 d of hospital stay and was lost on follow-up.Conclusion The clinical manifestation of neonatal osteomyelitis is atypical,the radiological and pathogen examination should be carried out once osteomyelitis is suspected.Appropriate antibiotics and timely surgery can prevent further damage and long-term sequela.
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ObjectiveTo explore an appropriate way and its effect on neonatal resuscitation training in Uygur area of Xinjiang, China.MethodsFrom October 2014 to February 2015, obstetricians, neonatologists (pediatricians), midwives and anesthetists from Turpan Region Central Hospital, Turpan City People's Hospital,Aksu Region First People's Hospital and other five hospitals at county level were chosen to attend the training course of neonatal resuscitation. The textbook for the course was Guidelines for Resuscitation which had been translated to Uygur language from English and the class was lead by less than ten Uygur trainees with Mandarin and Uygur when necessary in addressing some difficult or important points. The duration of theoretic courses took 6 h and the operational course took 8 h. Theorectical exam was taken before, immediately after and three months after (before re-training) the training. The accuracy rate was applied to assess the effect of training through evaluation for each resuscitation techniques. Repeated measures analysis of variance andChi-square test were used for statistical analysis.ResultsA total of 220 health care staff were included in the study. The average score of theoretical examination after the training was higher than that before (85.68±8.52 vs 65.37±12.08,t=18.532,P=0.000), and that before re-training was lower than that after training (80.08±12.70 vs 85.68±8.52,t=-4.943,P=0.000). After the training, the proportions of Done in each item, including rapid assessment, preliminary resuscitation, correct positive pressure artificial ventilation, external cardiac massage together with artificial ventilation, proper endotracheal intubation and proper administration of resuscitation drugs, were all higher that those before [72.7%(160/220) vs 1.4%(3/220), 40.0%(88/220) vs 0%(0/220), 15.9%(35/220) vs 0%(0/220), 37.7%(83/220) vs 8.2%(18/220), 51.8%(114/220) vs 5.9%(13/220) and 48.2%(106/220) vs 10.5%(23/220), allP<0.01]. But at the time before re-training, only one proportion ofDone which was higher than those immediately after initial training was proper administration of resuscitation drugs [49.6%(109/220) vs 48.2%(106/220),χ2=9.129,P<0.05].ConclusionBilingual (Mandarin and Uygur) neonatal resuscitation training in Xinjiang minority areas might enhance the recovery skills for local medical personnel.