Risk Factors for Pneumocystis jirovecii Pneumonia in Children With Systemic Lupus Erythematosus Exposed to Prolonged High-Dose Glucocorticoids.

Background: Pneumocystis jirovecii pneumonia (PJP) is a life-threatening opportunistic infection in immunocompromised children with systemic lupus erythematosus (SLE). Prophylaxis against PJP in high-risk children is crucial, but the risk factors for PJP in children with SLE are not adequately characterized. This study sought to identify the risk factors for PJP in long-term glucocorticoid-treated pediatric SLE patients.

New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

Background: Kidney disease of children markedly affects their health and development. Limited clinical data of early-stage kidney disease render a tremendous challenge for the accurate diagnosis. Trio whole-exome sequencing (Trio-WES) is emerging as a first-line diagnostic strategy in pediatric kidney disease, and shows important implications for the precision medicine strategies of children with kidney disease.

[Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases].

Objective: To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE).

Methods: A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents.

Results: Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had heterozygous mutations inherited from their father or mother.

[Mutational analysis of MYO1E in children with sporadic steroid-resistant nephrotic syndrome in Chinese Han ethnic group].

Objective: Previous studies have demonstrated that two homozygous missense MYO1E mutations are associated with childhood autosomal recessive focal segmental glomerulosclerosis in steroid-resistant nephrotic syndrome (SRNS) families from Italy and Turkey. Non-disease-causing heterozygous MYO1E variants were also found in other SRNS patient cohorts. However, the role of MYO1E mutations in Chinese sporadic SRNS has not been established.

[Mutational analysis of MYO1E in Chinese children with familial steroid-resistant nephrotic syndrome].

Objective: Steroid-resistant nephrotic syndrome (SRNS) with MYO1E mutations has been identified as autosomal recessive focal segmental glomerulosclerosis (FSGS). To date, only two homozygous mutations in the MYO1E gene were reported in three families with FSGS. This study aimed to examine mutations in the MYO1E gene in children with familial SRNS in the Han Chinese ethnic group.

[Pathological changes in the epileptogenic foci of children with intractable epilepsy].

Objective: To investigate pathological changes in the epileptogenic foci of children with intractable epilepsy and their clinical significance.

Methods: Thirty children with intractable epilepsy were included in the study. The epileptogenic foci were surgically resected and pathological changes in the obtained specimens were observed under a light microscope (LM) and a transmission electron microscope (TEM).

Intracerebral transplantation of mesenchymal stem cells derived from human umbilical cord blood alleviates hypoxic ischemic brain injury in rat neonates.

Aims: Fetal hypoxic-ischemic brain injury (HIBI) is a severe condition for which no effective therapy exists. In this study mesenchymal stem cells (MSCs) from human umbilical cord blood (UCB) of full-term newborns were isolated and intracerebrally transplanted into rat neonates after HIBI induction. Nerve function was assessed by the modified neurological severity scores (mNSS) to establish if MSCs could alleviate nerve injury.

[Treatment of hemolytic uremic syndrome after acute stage].

Objective: Hemolytic uremic syndrome (HUS) is a common primary disease that can cause acute renal failure in childhood. Renal disease is the most important long-term complication in patients who survived the acute stage of HUS. Use of angiotensin-converting enzyme inhibitors (ACEI) and a restricted protein intake may be beneficial to the patients.