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This study reported the diagnosis and treatment of cytochrome P450 oxidoreductase deficiency (PORD) in a male infant. The patient was admitted to Children's Hospital Affiliated to Shandong University at the age of 38 days due to nasal obstruction and feeding difficulties presented at 10 d after birth, as well as less weight gain. Physical examination showed craniosynostoses, hand and foot deformities, and normal external genitalia. Laboratory examination revealed mildly elevated serum adrenocorticotrophic hormone and decreased level of baseline cortisol. A homozygous mutation of c.1370G>A(p.R457H) in POR gene was detected by whole-exome sequencing, which confirmed the diagnosis of PORD. Skeletal deformities complicated by external genital malformations and/or adrenocortical hormone abnormalities are important diagnostic indicators for PORD.
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The morbidity and mortality of stroke caused by large vessel occlusion are high,and its outcome is closely associated with emergency treatment.In order to receive treatment within the time window,the effective prehospital assessment is very important.The prehospital stroke scale simplifies emergency screening and assessment of such patients.Although the predictive value is good,its role remains controversial.This article reviews some of the prehospital stroke scales used to identify large vessel occlusions and analyzed the characteristics of different scales.
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<p><b>OBJECTIVE</b>To explore the genetic basis of two neonates suspected for galactosemia.</p><p><b>METHODS</b>Next generation sequencing(NGS) was used to screen the whole exome of the neonates. Suspected mutation was validated by PCR and Sanger sequencing. Potential impact of novel mutation was predicted by using PolyPhen-2, MutationTaste and SIFT software.</p><p><b>RESULTS</b>Both neonates harbored compound heterozygous mutations of the GALT gene inherited from their parents. One has inherited two novel mutations c.564G>C(p.Q188H) and c.116A>T(p.D39V) respectively from his father and mother. The other has inherited mutations c.754C>T(p.Q252X) and c.904+1G>T from her father and mother, respectively.</p><p><b>CONCLUSION</b>The galactosemia in the two neonates may be attributed to compound heterozygous mutations of the GALT gene. This is the first domestic report of using the NGS for the diagnosis of galactosemia.</p>
Subject(s)
Female , Humans , Infant, Newborn , Male , Galactosemias , Diagnosis , Heterozygote , High-Throughput Nucleotide Sequencing , Methods , Mutation , UTP-Hexose-1-Phosphate Uridylyltransferase , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To review the application of thoracoscopic repair for treatment of congenital diaphragmatic hernia in neonates, so as to improve the cure rate.</p><p><b>METHODS</b>Clinical data of 47 neonates with congenital diaphragmatic hernia receiving thoracoscopic repair from June 2012 to June 2017 were reviewed. The admission age, gestational age, birth weight, timing of diagnosis, hernia location, clinical manifestation, surgical timing, surgical method, operation time, postoperative mechanical ventilation time of patients were analyzed.</p><p><b>RESULTS</b>There were 42 cases of left diaphragmatic hernia and 5 cases of right diaphragmatic hernia. Thirteen cases were diagnosed prenatally. Primary diaphragmatic repair was successfully accomplished under thoracoscope in 45 neonates without perioperative complications, while 2 patients were converted to open surgery. The average operation time was (63±13) min (42-150 min), the average blood loss was (3.0±1.7) mL (1.0-9.0 mL), and the average postoperative mechanical ventilation time was (3.9±1.4) d (2.0-11.0 d). Two patients died and the treatment was withdrawn in 3 patients with an overall cure rate of 89.4% (42/47).</p><p><b>CONCLUSIONS</b>Thoracoscopic repair is effective and can be used as first-choice treatment of diaphragmatic hernia in neonates.</p>
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ObjectiveTo investigate the effect of nursing intervention on quality of life in patients undergoing total hysterectomy. Methods100 patients undergoing total hysterectomy were randomly divided into the intervention group and the control group with 50 patients in each group.The patients in the control group were given routine instruction after admission,before and after operation.The patients in the intervention group were given systematic nursing intervention on the basis of routine nursing.The quality of life three months postoperation was compared between two groups. ResultsThe quality of life in the intervention group three months after operation was better than that of the control group. ConclusionsSystematic nursing intervention for patients undergoing total hysterectomy during hospitalization can improve their postoperative quality of life.
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Objective:To probe into the feasibility of nursing intervention on diabetic patient of the community by integrated traditional and western medicine. Methods:A total of 210 diabetic patients in Beilun district of Ningbo accepted Chinese and western medicine nursing knowledge,skill education,family's nursing education,health care of diet,then to compare the result before and after relatively intervening.Results:Among 210 diabetic patients,there were prominent differences in mastering Chinese and western medicine nursing knowledge (P