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Objective:To explore the clinical manifestations and genetic characteristics of Wolf-Hirschhorn syndrome (WHS) to improve the ability of diagnosis and differential diagnosis of the disease.Methods:The clinical features and auxiliary examinations and treatment of a proband with WHS caused by microdeletion of 4p16.3 segment who admitted to the Third Affiliated Hospital of Zhengzhou University in December 2021 were recorded, and whole exome sequencing (WES) of the family was performed. The prognosis was followed up.Results:The female proband, 11 months old, presented with convulsions at the age of 8 months, with the characteristics of heat sensitivity and cluster seizures, and her identical twin sister had a similar medical history. Physical examination found malnutrition, retarded development, special face, prominent forehead, wide nasal bridge, small jaw, precordial murmur and grade 3/6 murmur in the whole period, hyperactivity of P2, and low limb muscle tone. The whole exon and copy number variation (CNV) test of the family revealed that the proband had a 1.99 Mb heterozygous deletion in the chromosome 4p16.3 segment, including WHSC1 (NSD2), WHSC2 (NEFLA) and other genes. Copy number variation sequencing (CNV-Seq) of the proband and her sister showed 1.97 and 1.92 Mb heterozygous deletion of chromosome 4p16.3, respectively. Genealogical analysis by quantitative polymerase chain reaction revealed that the CNV was de novo, and it was determined to be a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines. The proband took sodium valproate orally, and her sister took oral sodium valproate, zonisamide, and levetiracetam successively, and at the same time they received family rehabilitation training. The age at the last follow-up was 1 year and 8 months. Neither of them had convulsions again in the past 3 months, but the developmental delay was obvious. Conclusion:WHS patients may present with growth retardation, epilepsy, Greek warrior helmet-like special face, and congenital heart disease, and may have microdeletions in the chromosome 4p16.3 segment.
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Objective:To investigate the effects of silicon photomutipliers (SiPM) detector and Bayesian penalized likelihood (BPL) reconstruction algorithm on semiquantitative parameters of 18F-FDG PET/CT and diagnostic efficiency for solitary pulmonary nodules/masses compared with traditional photomultiplier tube (PMT) and ordered subsets expectation maximization (OSEM). Methods:From March 2020 to January 2022, 118 patients (76 males, 42 females, age (63.0±10.1) years) newly diagnosed with solitary pulmonary nodules/masses in First Hospital of Shanxi Medical University were prospectively enrolled and underwent 18F-FDG PET/CT imaging with two different PET/CT scanners successively. The images were divided into PMT+ OSEM, SiPM+ OSEM and SiPM+ BPL groups according to PET detector and reconstruction algorithms. The SUV max, SUV mean, metabolic tumor volume (MTV) and total lesion glycolysis (TLG) of pulmonary nodules/masses were measured, then signal-to-noise ratio (SNR) and signal-to-background ratio (SBR) were calculated. One-way analysis of variance and Kruskal-Wallis rank sum test were performed to compare differences of above parameters among groups. ROC curve analysis was used to analyze the optimal threshold of SUV max for the differential diagnosis of pulmonary nodules/masses and AUCs were obtained. Results:There were 83 malignant nodules and 35 benign nodules. The image quality of SiPM+ BPL group (4.23±0.64) was better than that of SiPM+ OSEM group (3.57±0.50) or PMT+ OSEM group (3.58±0.51; F=54.85, P<0.001). There were significant differences in SUV max (7.57(3.86, 15.61) vs 4.95(2.22, 10.48)), SUV mean (4.43(2.28, 9.12) vs 2.84(1.21, 5.71)), MTV (3.54(1.57, 7.67) vs 5.09(2.83, 11.79)), SNR (28.12(12.55, 54.38) vs 20.16(8.29, 41.45)) and SBR (4.03(1.83, 7.75) vs 2.32(0.96, 5.03)) between SiPM+ BPL and SiPM+ OSEM groups ( H values: 16.63-37.05, all P<0.001). The optimal threshold values of SUV max in SiPM+ BPL, SiPM+ OSEM and PMT+ OSEM were 3.31, 2.21, 2.05 with AUCs of 0.686, 0.689, 0.615 for nodules < 2 cm, and were 10.29, 6.49, 4.33 with AUCs of 0.775, 0.782, 0.774 for nodules/masses ≥2 cm. Conclusions:Image quality and parameters of pulmonary nodules/masses are mainly affected by the reconstruction algorithms. BPL can improve SUV max, SUV mean, SBR and SNR, but reduce MTV without significant effect on liver parameters. SiPM+ BPL has a higher diagnostic threshold of SUV max than SiPM+ OSEM and PMT+ OSEM.
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Fulminant myocarditis in children often has a transient viral prodrome,which is characterized by acute onset and lack of specificity in the early stage.It is prone to deteriorate in serious cardiac pump dysfunction and arrhythmia,which may lead to cardiogenic shock and even sudden cardiac death.Some patients are given the pharmacologic treatment of large doses of inotropes,corticosteroids,intravenous immunoglobulin,antiarrhythmic agents as well as other therapies such as mechanical ventilation,temporary pacemaker,but the circulatory failure still can not be improved,leading to irreversible heart damage and life-threatening.It has been reported that timely mechanical circulatory support for critically ill children can effectively promote the recovery of cardiac pump function,reduce mortality and improve prognosis.Mechanical circulatory assist devices mainly inclucle extracorporeal membrane oxygenation(ECMO),intra aortic balloon pump (IABP),left ventricular assist device (LVAD) or double ventricular assist device(Bi-VAD).In view of the limited understanding of the technology in the field of pediatrics in our country,this has not been used extensively.This article reviews the progress of FM treatment in children with mechanical circulatory support.
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Objective To verify the criteria proposed by National Academy of Clinical Biochemistry(NACB)guidelines in investigating the factors that affect serum TSH determination, and to determine the reference range of serum TSH in iodine-sufficient areas of China. Methods In 2007, 5 348 inhabitants were enrolled from 3 iodine-sufficient areas of Liaoning Province, and were asked to fulfill the questionnaire. Serum TSH, thyroid peroxidase antibody(TPOAb), and thyroglobulin antibody(TgAb)were determined, and thyroid ultrasonography was carried out. Results The distribution of TSH levels was skewed in healthy people and closely fit the curve of Gaussian distribution after logarithmic transformation. The levels of TSH in subjects of 12-19 years of age were significantly higher than those of other age groups(P＜0.01), and no significant difference was found among the latter groups. TSH level in females [(1.68±1.90)mIU/L] was higher than in males[(1.45±1.92)mIU/L, P＜0.01]. The reference range of TSH was 0.43-4.74 mIU/L in males, and 0.48-5.39 mIU/L in females. Family history of thyroid disease, abnormal thyroid ultrasonography, and positive thyroid antibodies were the factors that influenced TSH level. Conclusion The reference range of serum TSH in iodine-sufficient areas of China is established.