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Most of the cases presented with hepatomegaly, hypertriglyceridemia and transaminase elevation, while some had developmental retardation, splenomegaly, hypoglycemia, obesity and insulin resistance. Selleck Mezigdomide The c.361-1G>C was the most common variation of GPD1. Conclusions HTGTI caused by GPD1 deficiency is mainly manifested with hepatomegaly, hypertriglyceridemia, transaminase elevation as well as hepatic steatosis and fibrosis. The most common variation of GPD1 is c.361-1G>C.Objective To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children. Methods The clinical data including age, symptoms, laboratory examination and cranial CT of 13 children with primary hypoparathyroidism diagnosed in the Capital Institute of Pediatrics from May 2017 to December 2019 were collected and analyzed retrospectively. These children and their parents also had gene detected by whole exome sequencing and (or) copy number variation sequencing. Results Among the 13 patients, 7 were male and 6 female. The onset age was 3 years (1 day-12 years) old. The time from onset to confirmed diagnosis was 2 months (2 days-10 years). The clinical manifestations included convulsion (9 cases), tetany (2 cases), muscle pain (1 case), mental retardation (5 cases), deafness (1 case), and initially misdiagnosed epilepsy (5 cases). The lab examination showed average blood calcium level of (1.7±0.3) mmol/L, blood phosphorus of (2.8±0.4) mmol/L, and parathyroid hormone of 8.2 (3.9-28.7)ng/L. Head CT found 7 cases of ectopic calcification. Among the 7 cases who had genetic abnormalities according to the gene detection, 5 had heterozygous deletion of 22q11.2 region, and only one of whom was diagnosed with typical DiGeorge syndrome. As for the rest 2 cases, one had autosomal dominant hypocalcemia caused by novel heterozygous variation of CaSR gene c.2495T>G (p.F832C), and the other was hypoparathyroidism-deafness-renal dysplasia syndrome caused by GATA3 c.708dupC (p.S237Qfs*66) novel heterozygous variation. Conclusions Primary hypoparathyroidism in children is mainly characterized by hypocalcemia and usually accompanied with diverse symptoms which may indicate genetic disorders. The detection of large fragment deletion should be considered to exclude 22q11.2 deletion syndrome.Objective To explore the clinical characteristics and risk factors of influenza-related deaths in children and to raise awareness of the disease among clinicians. Methods Clinical data of 31 influenza-related deaths hospitalized in Pediatric Intensive Care Unit (PICU) of Shenzhen Children's Hospital from January 2009 to December 2019 (death group) were retrospectively analyzed. A control group enrolled 188 patients with severe influenza who were successfully cured and hospitalized in PICU at the same time. Independent Student's t test, Mann-Whitney U test and chi square test were used to compare the general conditions, clinical manifestations, laboratory tests and antiviral therapy between two groups. Risk factors of mortality in children with severe influenza were identified by multivariate Logistic regression. Results In a total of 219 cases with severe influenza, 31 cases progressed to influenza-related deaths, 19 males and 12 females, with age of (4.2±3.3) years; 29 cases had influenza A virus infection aess then 0.05). Conclusions Influenza can cause multi-system disorder, especially lung infections and IAE. It can improve the success rate of treatment for children with severe influenza, identification and early treatment of secondary infection and complications, and timely administration of NAI treatment.Objective To analyze the indication, efficacy and complications of implantable cardioverter-defibrillator (ICD) implantation in children with severe tachycardia. Methods The retrospective study collected the clinical data of 6 patients who accepted ICD implantation in Shanghai Children's Medical Center from January 2009 to January 2020. The etiologies of tachycardia, procedure of the ICD implantation and the operation associated complications were analyzed. Results The 6 patients aged from 6 years and 5 months to 16 years and 2 months, and their weight were from 15.4 kg to 49.8 kg. Three patients were diagnosed with long QT syndrome, and the remaining three with catecholaminergic polymorphic ventricular tachycardia, hypertrophic cardiomyopathy and lethal cardiac channelopathy, respectively. All the patients suffered from drug-resistant ventricular tachycardia or ventricular vibration before the operation. After the ICD implantation, 3 patients had electric storm, which was alleviated after analgesics-sedatives treatment with chlorpromazine, dexmedetomidine or midazolam combined with fentanyl, as well as reset of the ICD parameters and support from psychological consultation. The other 3 patients did not undergo any complications as the above comprehensive strategies were given after the operation prophylactically. All patients continued anti-arrhythmic medicine after the operation and all survived at the end of the follow-up period lasted from 1 month to 7 years. Two patients had ventricular tachycardia (VT) and ventricular vibration, which were successfully recognized and defibrillated by ICD. Conclusions ICD implantation is safe and effective in children and adolescent patients. The electric storm may happen after operation, which could be prevented by the comprehensive strategies including appropriate ICD parameter-setting, analgesics-sedatives treatment and psychological support.Objective To investigate the clinical characteristics of focal atrial tachycardia (FAT) and the efficacy of radiofrequency catheter ablation (RFCA) in pediatric FAT. Methods A total of 125 children with FAT who were treated with RFCA in the First Hospital of Tsinghua University from January 2010 to July 2018 were involved in the study. The clinical characteristics, origin of FAT, success rate of RFCA and recurrence rate and complications post RFCA were retrospectively analyzed, and the efficacy and X-ray radiation were compared between two-dimensional (2D) and 3D mapping system by t test or Chi-square analysis. Results Among the 125 children, 57 were males and 68 females, age of (7.6±3.5) years old and body weight of (27.7±13.3) kg; and 62 (49.6%) had paroxysmal FAT, and 63 (50.4%) incessant FAT. Twenty-seven patients (21.6%) presented with tachycardia-induced cardiomyopathy (TIC), and 22 of whom (81.5%) were secondary to the incessant FATs. Most of the FATs originated from atrial auricle (46/125, 36.8%). Ablation was successful in 111 children (88.
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