ABSTRACT
This article reported a male neonate with lethal mitochondrial trifunctional protein deficiency (MTPD) caused by compound heterozygous variations in the HADHB gene. The patient presented with poor milk intake complicated by abnormal myocardial enzymes within 24 h after birth and was transferred to the Children's Hospital of Nanjing Medical University on day 4. Physical examination revealed no obvious abnormalities on admission. Laboratory examination showed increased creatine kinase isoenzyme and cardiac troponin levels, and electrocardiogram suggested sinus tachycardia and low QRS voltage in limb leads. Blood screening for metabolic abnormalities showed high levels of tetradecenyl carnitine and various 3-hydroxycarnitines. Heterozygous mutations of c.739C>T(p.Arg247Cys) and c.607C>T(p.Arg203Ter,272) were detected in the HADHB gene in the boy, which were pathogenic variants included in the Human Gene Mutation Database. Followed up to three months of age, the boy was readmitted to hospital due to poor milk intake for one week and poor response for 2 d after catching a cold. After admission, he quickly developed multiple organs dysfunction such as heart failure and respiratory failure, and then died. Lethal MTPD is rare with no effective treatment and poor prognosis. Lethal MTPD should be highly suspected when unexplained cardiomyopathy, hypoglycemia, acidosis and other metabolic abnormalities appear in the neonatal period, and an early diagnosis could be confirmed with genetic testing in the neonatal period.
ABSTRACT
Objective To analyze clinical features of secondary hypertension in children,and explore the etiology of secondary hypertension and improve the clinical diagnosis and treatment.Method Retrospective analysis of the clinical features in 120 children with secondary hypertension was performed.Results 1.Seventy-nine patients (65.8％,79/120 cases) were male,41 patients(34.2％,41/120 cases) were female.The mean age was (9.5-±4.1)years old.2.Main clinical manifestations:55 cases of edema (45.8％,55/120 cases),52 cases of seizure (43.3％,52/120 cases),49 cases of headache (40.8％,49/120 cases),44 cases of vomit (36.7％,44/120 cases),33 cases of dizziness (27.5％,33/120 cases),24 cases of oliguria (20.0％,24/120 cases).3.Seventy-seven patients (64.2％,77/120 cases) were renal hypertension,22 patients (18.3％,22/120 cases) were drug-induced hypertension,5 patients (4.2％,5/120 cases) were endocrine disease,4 patients (3.3％,4/120 cases) were rheumatic disease,3 patients (2.5 ％,3/120 cases) were cardiogenic disease,2 patients (1.7 ％,2/120 cases) were neuroblastoma.4.Seventy-one patients (59.2％,71/120 cases)were complicated with hypertensive encephalopathy,among them 47 patients (66.2％,47/77 cases)were acute glomerulonephritis.5.One hundred and eleven patients' blood pressure turned to normal after treatment of the primary diseases.The other 9 patients were discharged because they abandoned treatment.Conclusions Renal disease is the most common etiology of secondary hypertension in children.Children with secondary hypertension are easily complicated with hypertensive encephalopathy.The key of treatment is early diagnosis and early treatment of primary diseases.
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the outcome of endodontic microsurgery in 54 cases with persistent apical periodontitis.</p><p><b>METHODS</b>All surgical procedures were performed under a dental operating microscope after root canal treatment. Surgical procedures included periapical curettage, root-end resection, retropreparation with ultrasonic microtips, and root-end filling with mineral trioxide aggregate (MTA). Healing was monitored clinically and radiographically.</p><p><b>RESULTS</b>One year later, 31 (57.41%) cases were cured, 19 (35.19%) cases were improved, 4 (7.41%) cases were failure. There were no statistical difference between sex, age, tooth location, size of the lesion and pathological features (P>0.05).</p><p><b>CONCLUSION</b>The outcome of the present study indicates that endodontic microsurgery may result in a predictable treatment outcome in teeth with persistent periradicular lesions.</p>