Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review / 中华儿科杂志

Objective: To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. Methods: This was a case series research. Clinical date and genetic results of 2 neonatal cases of Zellweger syndrome caused by PEX6 gene variation in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology and Affiliated Hospital of Guangdong Medical University from July 2021 to July 2022 were retrospectively collected and analyzed. Literature up to August 2023 was searched from electronic databases of China National Knowledge Infrastructure (CNKI), Wanfang Data and PubMed with the combined keywords of "Zellweger syndrome" "Zellweger spectrum disorder", and "PEX6 gene" both in Chinese and English. The main clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation were summarized. Results: The 2 male neonates both developed clinical manifestations as dyspnea, hypotonia, feeding difficulties, enlarged fontanelle, and high palatine arch after birth. Biochemical parameters indicated elevated bile acids, and the cranial ultrasound showed the enlarged bilateral ventricles and subependymal cyst in both 2 neonates. Zellweger syndrome was confirmed by whole exome sequencing, and the results revealed PEX6 gene variation in the 2 neonates, including compound heterozygous variants c.315G>A and c.2095-3T>G, and homozygous variant c.506_507del. Case 1 was hospitalized for 5 days, and case 2 for 32 days; they both died shortly after being discharged (the specific time is unknown). Literature review found 26 patients, including 2 neonates in this study, with Zellweger spectrum disorder caused by PEX6 gene defect reported in 1 Chinese article and 11 English articles. Clinical features included hearing loss (19 cases), developmental delay (19 cases), vision impairment (19 cases), elevated very long chain fatty acids (17 cases), brain malformations (15 cases), hypotonia (12 cases), hepatic insufficiency (12 cases), distinctive facies (10 cases), and dental impairment (9 cases). Compound heterozygous variations dominated the variation types (15 cases), and the frameshift variations (16 cases) were the main pathogenic variations. Conclusions: Zellweger spectrum disorder should be considered when neonates show hypotonia, feeding difficulty, distinctive facial appearance, brain malformations and failure of hearing screening, or when older children show retinitis pigmentosa, sensorineural hearing loss, amelogenesis imperfecta and developmental delays. Detection of genetic variation in the PEX gene is crucial for definitive diagnosis.

Effect of breastfeeding on insulin sensitivity in infants with intrauterine growth retardation: a follow-up study / 中国当代儿科杂志

OBJECTIVE@#To study insulin sensitivity and the serum level of adiponectin in infants with intrauterine growth retardation (IUGR) and the effect of breastfeeding on the insulin sensitivity through a follow-up study.@*METHODS@#A total of 106 full-term IUGR infants who were hospitalized from October 2014 to October 2018 were enrolled as the IUGR group, and 90 full-term appropriate for gestational age (AGA) infants who were born during the same period of time were enrolled as the AGA group. Birth weight and body length were recorded. Serum levels of fasting blood glucose (FBG), triglyceride (TG), low-density lipoprotein (LDL), high-density lipoprotein (HDL), insulin, and adiponectin were measured on day 7 after birth. Homeostasis model assessment of insulin resistance (HOMA-IR) was calculated. According to the feeding pattern, the IUGR group was further divided into a breastfeeding group with 37 infants and a formula feeding group with 42 infants. The above serum indices and growth indices were also measured at the age of 3 and 6 months.@*RESULTS@#Compared with the AGA group, the IUGR group had significantly increased levels in serum insulin and HOMA-IR and a significantly decreased level of adiponectin (P0.05). In the breastfeeding group, serum insulin and HOMA-IR decreased and adiponectin level increased over the time of breastfeeding (P<0.05).@*CONCLUSIONS@#Insulin sensitivity decreases in the early stage after birth in IUGR infants, and breastfeeding can improve insulin sensitivity.

Value of arterial blood lactic acid in the evaluation of disease severity and prognosis in neonatal shock / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To evaluate the value of blood lactic acid (BLA) as a predictor for the severity and prognosis of neonatal shock.</p><p><b>METHODS</b>A total of 326 neonates with shock were enrolled and divided into three groups based on the severity, namely mild group (n=147), moderate group (n=105), and severe group (n=74). BLA level was measured during and early after (about 6 hours later) fluid resuscitation, and lactate clearance rate (LCR) was calculated. The receiver operating characteristic (ROC) curve was applied to evaluate the predictive value of BLA in neonatal shock.</p><p><b>RESULTS</b>BLA level was high in all subjects prior to treatment, and was highest in the severe group and lowest in the mild group (P<0.01). BLA level was significantly higher among patients with septic shock than among those with hypovolemic, cardiogenic, and asphyxiating shock (P<0.05). BLA level was significantly reduced in patients in recovery after treatment (P<0.05). Mortality was significantly lower in patients with BLA level ≤4 mmol/L or LCR ≥10% than in those with BLA level >4 mmol/L or LCR <10% (P<0.01). BLA at 11.15 mmol/L had 100% sensitivity and 96.8% specificity in predicting severe shock. BLA at 10.65 mmol/L had 88.9% sensitivity and 74.1% specificity in predicting the prognosis (survival or dead) of newborns with shock.</p><p><b>CONCLUSIONS</b>In neonates with shock, arterial BLA level increases as the disease severity increases and is associated with prognosis, so it is a useful predictor of the severity and prognosis of neonatal shock.</p>

Effect of intrauterine growth retardation on insulin sensitivity and plasma adiponectin level in neonates / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To explore the effect of intrauterine growth retardation (IUGR) on insulin sensitivity in neonates and the relationship between insulin sensitivity and plasma adiponectin level.</p><p><b>METHODS</b>Eighty-two term neonates with IUGR and 90 term neonates born appropriate for gestational age (AGA) were enrolled. Weight, height, head circumference and abdomen circumference of the neonates were measured within 24 hours after birth. Fasting serum glucose (FG), triglyceride (TG), high-density lipoprotein (HDL), low-density lipoprotein (LDL), plasma insulin and adiponectin were detected in two groups on the 7th day after birth. Homeostasis model assessment for insulin resistance (HOMA-IR) index and insulin sensitivity index (ISI) were calculated.</p><p><b>RESULTS</b>There were no significant differences in the levels of FG, TG, HDL and LDL between the IUGR and AGA groups (P>0.05). The plasma insulin level in the IUGR group was higher than that in the AGA group, but the plasma adiponectin level was lower than that in the AGA group (P<0.05). HOMA-IR index in the IUGR group was higher than that in the AGA group, but ISI was lower than that in the AGA group (P<0.05). Both Pearson correlation analysis and multiple linear regression analysis showed HOMA-IR index was negatively correlated with plasma adiponectin level and birth weight (P<0.05).</p><p><b>CONCLUSIONS</b>The neonates with IUGR display a higher plasma insulin level and decreased insulin sensitivity. The decreased plasma adiponectin level may be associated with the decreased insulin sensitivity.</p>

Change of Thrombelastography in Children's DIC and Analysis of Its Sensitivity and Specificity for Diagnosis of DIC / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the influence of thrombelastography index changes on its sensitivity and specificity for diagnosis of disseminated intravascular coagulation (DIC) in children.</p><p><b>METHODS</b>A total of 149 children with DIC in our hospital from June 2013 to June 2016 were selected in DIC group, while 106 cases of non-DIC, including healthy children and children with diseases easily confused with DIC, were selected as non-DIC(control) group. The thrombelastography, D-dimer, coagulation functions including prothrombintime (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB) and fibin degradation product (FDP), congental coagulation disorders and platelet count were detected in DIC and non-DIC groups; the statistics of data was performed and the sensitivity and specificity of thromelastraphy indexes such as R time, α angle MA value and A value were evaluated; the relationship of DIC with indexes was analyzed. Moreover, the result difference of thromelastography and routine coagulation function test was compared at diagnosis of DIC.</p><p><b>RESULTS</b>According to statistical analysis of clinical data in 2 groups, the average R time in non-DIC group was significantly less than that in DIC group (P<0.05); the average α angle in non-DIC group was larger than that in DIC group (P<0.05), both the MA and A values in the non-DIC group were significantly higher than those in DIC group (P<0.05). The specificity of routine coagulation function test for diagnosis of DIC was as follow: PT-27.2%, APTT-42.2%, international normalized ratio(INR)-47.9%, FIB-44.4%, FDP-42.7% and D-dimer-68.3%, which were significantly lower than that of R time,α angle and MA value for diagnosis of DIC (85.1%, 74.1% and 73%). The α angle and MA value of healthy children were greater than those of children with severe liver disease(P<0.05). while the average R time of healthy children was less than that of children with severe liver disease(P<0.05), but the difference of A value between them did not statistically significant (P>0.05) . The average R time of healthy children was less than that of children with congenital coagulation disorders (P<0.05). but there was no significant differences in α angle MA and Avalues between them.</p><p><b>CONCLUSION</b>As compared with routine coagulation function test, the thrombelastography shows more high specificity for diagnosis of DIC, and can more precisely diagnose the DIC; moreover, the thrombelastography combined with roatime coagulation function test can more early find and diagnose the DIC in children, therefore it can improve the survival rate of children with DIC.</p>

Study on Immune Function of Children Infected by Bacteria Excreting Extended Spe ctrum ?-Lactamases / 实用儿科临床杂志

Objective To observe the relationship between extended spectrum ?-lactumases(ESBLs) bacteria infection and immune factor in children.Methods Immune function were tested in 49 children with ESBLs infection,that the test of ESBLs changed from negative to positive in hospital and compared with that of ESBLs bacteria negative infected case,children with hypoimmunity and normal immune function.Results Forty-nine cases of ESBLs bacteria positive-changed children had lower immune function and their immune function improved when restored.The rate of ESBLs positive-changed was significant higher in hypoimmunity than that of normals(P