[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations].

Objectives: To improve the understanding of the clinical phenotypes and genetic characteristics of nephronophthisis (NPHP) and related syndromes in children.

Methods: A retrospective analysis was performed on the medical data of eight children with NPHP and related syndromes who were diagnosed and treated in the Department of Pediatrics of the Second Hospital of Hebei Medical University, from January 2018 to November 2022. The clinical characteristics and genetic testing results were analyzed.

Effect of Sirolimus on the Level of Peripheral Blood Lymphocyte Autophagy in Children With Systemic Lupus Erythematosus.

To observe the changes of autophagy-related protein levels in peripheral blood lymphocytes before and after sirolimus treatment in children with systemic lupus erythematosus (SLE). Children with SLE were randomly divided into two groups, 28 in the traditional treatment group and 28 in the sirolimus group. Fifteen healthy children who were in the same period were collected as the normal control group.

Changes of Peripheral Blood Lymphocyte Subsets and Immune Function in Children with Henoch-Schonlein Purpura Nephritis.

Background: Purpuric nephritis is the most common secondary glomerular disease in childhood. Its prevalence in children has been steadily rising in recent years.

Objective: To explore the characteristics and pathogenesis of changes in peripheral blood lymphocyte subsets and immune function in children with Henoch-Schonlein purpura nephritis.

Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report.

To identify the gene mutation of Stormorken syndrome and review the published Stromal Interaction Molecule 1 (STIM1) mutation phenotype. We described the clinical and molecular aspects of a Chinese female with Stormorken syndrome by laboratory tests, muscle biopsies, and genetic analysis. We used this information to summarize all the mutation sites reported in the literature.

Clinicopathologic comparisons of IgA nephropathy and IgA vasculitis nephropathy in children: a ten-year single-center experience.

Background: To investigate the similarities and differences of renal clinical and renal pathology between IgA nephropathy (IgAN) and IgA vasculitis nephritis (IgAVN) in children.

Methods: A total of 237 children with IgAN and 190 children with IgAVN were included. The general conditions, clinical characteristics, final diagnosis, clinical and pathological classification of the children were intercepted at the time of admission, and the retrospective comparative analysis was carried out.

[Association between autophagy and systemic juvenile idiopathic arthritis and related mechanism: a preliminary study].

Objective: To study the role of autophagy in the development of systemic juvenile idiopathic arthritis (sJIA) by analyzing the expression of microtubule-associated protein 1 light chain 3-II (LC3-II), myeloid differentiation factor 88 (MyD88), and suppressor of T-cell receptor signaling 1 (STS-1) in peripheral blood lymphocytes of children with sJIA.

Methods: A total of 26 children with sJIA were enrolled as the sJIA group, and 26 healthy children were enrolled as the control group. Western blot was used to measure the protein expression of LC3-II, STS-1, and MyD88 in peripheral blood lymphocytes.

[Preventive effect of integrative medical therapy on children Henoch-Schonleln purpura with renal impairment].

Objective: To observe the clinical effect of integrative medicinal therapy in treating children Henoch-Schonlein purpura (HSP) and its preventive effect on complicated renal impairment.

Methods: One hundred and twenty children with HSP were equally randomized into two groups, the treated group and the control group. Both were treated with conventional Western medical therapy, but Sanhuang Qingxue Yin (SQY, a Chinese herbal drug) was given additionally to the treated group.