Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development / 中华儿科杂志

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

Impact of unilateral cryptorchidism on the levels of serum anti-müllerian hormone and inhibin B / 中华男科学杂志

<p><b>Objective</b>To investigate the influence of unilateral cryptorchidism on the levels of serum anti-müllerian hormone (AMH) and inhibin B in children.</p><p><b>METHODS</b>We enrolled 65 patients with unilateral cryptorchidism and 45 healthy children in this study. We measured the length and circumference of the penis, the testis volume in the cryptorchidism side, and the levels of serum AMH and inhibin B at the age of 6 and 12 months, respectively.</p><p><b>RESULTS</b>Compared with the healthy controls, the patients with unilateral cryptorchidism showed significant decreases at 12 months in serum AMH (［108.06±12.40］ vs ［103.26±17.57］ ng/ml, P<0.05) and inhibin B (［77.43±5.66］ vs ［70.21±5.69］ pg/ml, P<0.05). No statistically significant differences were found in the length and circumference of the penis and the testis volume in the cryptorchidism side at 6 and 12 months (P>0.05), or in the levels of serum AMH and inhibin B at 6 months (P>0.05).</p><p><b>CONCLUSIONS</b>Unilateral cryptorchidism affects the gonadal function of the patient, and orchiopexy should be timely performed in order to reduce its impact.</p>

Gene polymorphisms of Toll-like receptors in Chinese Han children with sepsis in Wenzhou / 中华儿科杂志

<p><b>OBJECTIVE</b>Sepsis remains a serious clinical problem because of high morbidity and mortality. The importance of Toll-like receptors (TLRs) for the induction of immune responses against sepsis was demonstrated in humans. The present study aimed to probe the gene polymorphisms of TLR4 (Asp299Gly and Thr399Ile) and TLR2 (Arg753Gln) in patients with sepsis among Chinese Han children in Wenzhou, and investigate the correlation with sepsis.</p><p><b>METHOD</b>This study was conducted as a case-control study. Using polymerase chain reaction and DNA sequencing, gene polymorphisms of TLR4 (Asp299Gly and Thr399Ile) and TLR2 (Arg753Gln) in 59 children with sepsis, 38 children with severe sepsis (including 20 septic shock) and 57 healthy controls were analyzed. Hardy-Weinberg method of statistics was used to compare the frequency of genotypes alleles among three groups.</p><p><b>RESULT</b>The mutant genotypes of TLR4 gene (Asp299Gly and Thr399Ile) were not found among sepsis, septic shock and control groups. In severe sepsis group, the Arg753Gln TLR2 polymorphism occurred in 2 out of 38 severe sepsis patients and both of the subjects with the TLR2 Arg753Gln polymorphism had fatal staphylococcal infections.</p><p><b>CONCLUSION</b>TLR4 gene (Asp299Gly and Thr399Ile) polymorphisms may not be correlated with susceptibility to sepsis among Chinese Han children in Wenzhou. The fact that only 2 out of 38 severe sepsis patients had Arg753Gln TLR2 polymorphism suggests that a larger sample size is needed because of the rarity of the TLR2 allele among Chinese Han children in Wenzhou.</p>

Contents of serum albumin after surgical operation in children with acute intussusception / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the changes of serum albumin contents after operation and investigate whether post-operational serum albumin contents are correlated with the disease severity in children with acute intussusception.</p><p><b>METHODS</b>Serum albumin contents were measured using the automatic biochemistry analyzer in 32 children with mild acute intussusception and 21 children with severe acute intussusception 1 day after surgical operation. After 5 days combined treatment, serum albumin contents were re-examined. Thirty healthy children severed as the control group. The correlation between post-operational serum albumin contents and critical illness scores was evaluated.</p><p><b>RESULTS</b>Serum albumin contents in the mild (34.2+/-6.5 g/L; P<0.05) and the severe intussusception groups (25.8+/-7.5 g/L; P<0.01) 1 day after operation were significantly lower than those in the control group (37.1+/-4.1 g/L). There were significant differences in serum albumin contents between the mild and the severe intussusception groups (P<0.05). Five days after operation, serum albumin contents in the mild intussusception group significantly increased (37.1+/-11.4 g/L; P<0.05), while serum albumin contents in the severe intussusception group did not differ from those 1 day after operation. There was a positive correlation between serum albumin contents on the 1st day after operation and the critical illness scores (r=0.879, P<0.01).</p><p><b>CONCLUSIONS</b>Serum albumin contents decreased on the 1st day after operation and were correlated with the disease severity in children with acute intussusception. Hypoalbuminemia lasted for a longer period in severe cases. The post-operational measurement of serum albumin contents may be useful in the evaluation of the severity for children with acute intussusception.</p>

Risk factors for death in children with septic shock / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To identify the risk factors for death in children with septic shock.</p><p><b>METHODS</b>Clinical data of 53 children with septic shock admitted to the Yuying Children's Hospital between January 2006 and July 2008 were retrospectively studied. Risk factors for death were assessed using univariate analysis and logistic regression analysis.</p><p><b>RESULTS</b>Nineteen cases died out of 53 children with septic shock. Univariate analysis and logistic regression analysis showed that arterial blood pH value<7.0 (OR=89.66), hypotension (OR=84.00), the pediatric critical illness score<70 (OR=60.00), the number of organ dysfunction>or=3 (OR=38.98), incompletion of volume resuscitation within 6 hrs after shock (OR=26.41), and no administration of effective antibiotics within 1 hr after shock (OR=11.43) and of vasoactive drugs (OR=75.68) were risk factors for death in children with septic shock.</p><p><b>CONCLUSIONS</b>A low arterial blood pH value (<7.0), hypotension, a pediatric critical illness score (<70) and the number of organ dysfunction>or=3 are related to a high mortality in children with septic shock. If the volume resuscitation can be completed within 6 hrs after shock, effective antibiotics can be administered within 1 hr after shock, and vasoactive drugs can be used properly, the outcome of children with septic shock may be improved.</p>

Clinical analysis of community-acquired Pseudomonas aeruginosa septic shock / 中华儿科杂志

<p><b>OBJECTIVE</b>This study sought to analyze the clinical manifestations and intervention of fulminant septic shock in community-acquired Pseudomonas aeruginosa septicemia.</p><p><b>METHODS</b>We retrospectively reviewed the medical records for diagnosis, antibiotic therapy, clinical course of septic shock, respiratory support, laboratory data etc.</p><p><b>RESULTS</b>Eight of nine cases with P. aeruginosa septic shock died. Fever (nine cases) and cough (three cases) or diarrhea (3 cases) were the 2 most common initial symptoms, three cases developed skin gangrenosum later. Pseudomonas aeruginosa infection was not considered in any of the cases before death or blood culture showed positive result. Only 3 cases were initially treated with susceptible antibiotic regimen but no anti pseudomonas combination therapy was applied, susceptible antibiotic monotherapy was applied in 7 cases after transfer to the ICU. The mean latency of shock occurrence was 5.1 hours (range 0 to 21 hours) after admission, the mean duration from the occurrence of shock to death was 13.8 hours (range, 1 - 32 hours). All the patients were transfer red to ICU for shock, the appropriate resuscitation of shock patients was delayed by 49.3 minutes (range 25 - 80 minutes) by transfer. Only two cases were diagnosed and treated for shock on admission; after transferred to ICU, only 5 patients were diagnosed as having shock, and only 3 received anti-shock treatment. Eight of the patients died of persistent shock. In 6 patients who died, mechanical ventilation was not applied until cardiac arrest occurred. All the patients had hypoalbuminaemia, elevated serum C-reactive protein concentration, leukopenia and 6 cases had DIC.</p><p><b>CONCLUSION</b>The initial presentation of the cases with community-acquired Pseudomonas aeruginosa septicemia was nonspecific with fever and cough or diarrhea. Clinicians often underestimated the severity of the infection, few patients received effective antimicrobial therapy. The authors suggest that an anti-pseudomonas antibiotic should be included in the initial empiric antibiotic regimen to cover P. aeruginosa high-risk patients; the front-line clinician should be educated for early recognition and aggressive resuscitation of P infection. aeruginosa septicemia.</p>

Changes of Serum Gastrin,Plasma Motilin and Somatostatin in Critically Ill Children and Those Clinical Significances / 实用儿科临床杂志

Objective To explore the changes of serum gastrin(GAS),plasma motilin(MTL) and somatostatin(SST) in critically ill children with gastrointestinal dysfunction(GID).Methods According to pediatric critical illness score,75 cases were divided into greatly critical group(score90).Fifty cases of greatly critical and critical group were divided into GID group and non-GID group.The levels of serum GAS,plasma MTL and SST were detected on an empty stomach at acute stage and convalescence stage,comparing with those of normal control group,and then,the relationship between the levels of serum GAS,plasma MTL,SST and GID,the severity of disease were analyzed.Results At acute stage,the levels of serum GAS and plasma MTL of greatly critical group and critical group were higher than those of normal control group,the levels of plasma SST of greatly critical group and critical group were lower than that of normal control group,the more severe condition of critical children,the higher level of serum GAS and plasma MTL,the lower level of plasma SST.At convalescence stage,the level of serum GAS and plasma MTL of the greatly critical group and critical group decreased and the level of plasma SST increased.The levels of serum GAS and plasma MTL of GID group were higher than those of non-GID group,but the level of plasma SST of GID group was lower than that of non-GID group.Conclusion The level of serum GAS,plasma MTL and SST can be used to assess the severity of illness and prognosis,judge the change of disease and determine the efficacy of treatment programs,and detect gastrointestinal functional lesion.

Severity of Systemic Inflammatory Response to Type B Epidemic Encephalitis and Blood Tumor Necrosis Factor Complicated with Respiratory Failure / 实用儿科临床杂志

Objective To study the severity of systemic inflammatory response to type B epidemic encephalitis and blood tumor necrosis factor complicated with respiratory failure.Methods Fourteen children with type B epidemic encephalitis were divided into two groups;6 cases in group one with respiratory failure were given mechanical ventilation and the other 8 cases had normal respiration.Breat-hing pattern,respiratory rate,GCS scores,daily dosage of sedatives were observed before endotracheal intubation;while heart rate,temperature,WBC,CRP,TNF were measured.Results Patients in respiratory failure group were given a small dosage of Luminal;there was no significant difference in GCS between two groups treated with compound Wintermin.The heart rate,temperature,WBC,CRP,TNF levels in respiratory failure group were significantly higher than those in normal respiratory group.Conclusions The severity of systemic inflammatory response is more severe in epidemic type B encephalitis with respiratory failure than the controls.Significant increase in blood TNF may be an important factors to cause peripheral respiratory failure.