Clinical features and genetic analysis of 15 Chinese children with dent disease.

Objective:  The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve pediatricians' awareness of and attention to this disease.

Methods:  We analyzed the clinical and laboratory data of 15 Chinese children with Dent disease who were diagnosed and treated at our hospital between January 2017 and May 2023 and evaluated the expression of the and genes.

Results:  All 15 patients were male and complained of proteinuria, and the incidence of low-molecular-weight proteinuria (LMWP) was 100.

Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.

Introduction: Congenital chloride diarrhoea (CCD) is an autosomal recessive condition that causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because of solute carrier family 26 member 3 (SLC26A3) gene mutations.

Case Presentation: A 7-month-old Chinese infant with a history of maternal polyhydramnios presented with frequent watery diarrhoea, severe dehydration, hypokalaemia, hyponatraemia, failure to thrive, metabolic alkalosis, hyperreninaemia, and hyperaldosteronaemia. Genetic testing revealed a compound heterozygous SLC26A3 gene mutation in this patient (c.

Systemic lupus erythematosus combined with Wilson's disease: a case report and literature review.

Background: Systemic lupus erythematosus (SLE) and Wilson's disease (WD) are both systemic diseases that can affect multiple organs in the body. The coexistence of SLE and WD is rarely encountered in clinical practice, making it challenging to diagnose.

Case Report: We present the case of a 9-year-old girl who initially presented with proteinuria, haematuria, pancytopenia, hypocomplementemia, and positivity for multiple autoantibodies.

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.

Background: Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign", and variable organ involvement (such as eye, kidney, liver, and skeleton). Here, we present a case of JS in a Chinese boy.

Case Presentation: An 11-year-old Chinese boy presented with neonatal asphyxiation and hypoxia, strabismus, subsequent developmental delay, ataxia and end-stage kidney disease (ESKD).

Urinary epidermal growth factor predicts complete remission of proteinuria in Chinese children with IgA nephropathy.

Background: This study investigated the association between urinary epidermal growth factor (EGF) and complete remission (CR) of proteinuria in children with IgA nephropathy (IgAN).

Methods: We included 108 patients from the Registry of IgA Nephropathy in Chinese Children. The urinary EGF at the baseline and follow-up were measured and normalized by urine creatinine (expressed as uEGF/Cr).

Clinical features and enzyme replacement therapy in 10 children with Fabry disease.

Objective: To summarize the clinical features, diagnosis and enzyme replacement therapy(ERT) of Fabry disease (FD) in children.

Methods: The clinical data, laboratory tests, genetic variations and treatment of 10 FD children diagnosed in Shandong Provincial Hospital from September 2020 to June 2022 were retrospectively analyzed.

Results: Among the 10 cases from 6 families, 7 patients were boys of 4 to 13 years of age, and 3 were girls of 12 to 15 years of age.

Clinical features of children with anti-CFH autoantibody-associated hemolytic uremic syndrome: a report of 8 cases.

Objective: To explore the clinical characteristics, treatment protocol and prognosis of children with anti-complement factor H (CFH) autoantibody (Ab)-associated hemolytic uremic syndrome (HUS).

Methods: Clinical data of 8 patients with anti-CFH Ab-associated HUS who were admitted to Shandong Provincial Hospital from January 2011 to December 2020 were collected retrospectively.

Results: The age at disease onset ranged between 5.

CXCL16/ERK1/2 pathway regulates human podocytes growth, migration, apoptosis and epithelial mesenchymal transition.

Primary nephrotic syndrome (PNS) is the commonest glomerular disease affecting children. Previous studies have confirmed that CXC motif chemokine ligand 16 (CXCL16) is involved in the pathogenesis of PNS. However, the exact mechanisms underlying the pathogenesis of PNS remain to be elucidated.

The Clinical and Pathological Features of Children With Microscopic Polyangiitis.

The aim of this study was to explore the clinical features, pathological characteristics, and the prognosis of children with microscopic polyangiitis (MPA). Ten children with MPA that were hospitalized in our hospital were included in this study. The children's pre-diagnosis status, clinical manifestations, renal pathology, treatment, and prognosis data were analyzed retrospectively.

oxLDL promotes podocyte migration by regulating CXCL16, ADAM10 and ACTN4.

Nephrotic syndrome (NS) is one of the most common causes of chronic kidney disease in the pediatric population. Hyperlipidemia is one of the main features of NS. The present study investigated the role of CXC motif chemokine ligand 16 (CXCL16) and ADAM metallopeptidase domain 10 (ADAM10) in oxidized low‑density lipoprotein (oxLDL)‑stimualted podocytes and the underlying mechanisms.

Parthenolide ameliorates tweak-induced podocytes injury.

Parthenolide (PTL) is a natural product from the shoots of Tanacetum parthenium, which has immunomodulatory effects in multiply type of diseases. This study aimed to explore the effect and the underlying mechanism of PTL on the anti-apoptotic and anti- inflammatory ability of tweak-induced podocytes. Conditionally immortalized mouse podocytes were incubated with Tumor necrosis factor-like weak inducer of apoptosis (Tweak, 100 ng/ml), PTL(10 µM) or Tweak + PTL for 12 h, 24 and 48 h, respectively.

Presurgical Concerns of Primary Family Caregivers of Children With Cerebral Palsy.

Background: Primary family caregivers (PFCs) of children with cerebral palsy have many worries and concerns when their children face orthopedic surgery. Levels of PFC stress about the upcoming surgery is related to the child's level of gross motor function as well as the support they receive from medical professionals.

Purpose: The purposes of the present study were to (1) explore the levels of concern about orthopedic surgery; and (2) explore the predictive factors associated with concerns about orthopedic surgery among PFCs of children with cerebral palsy during the preoperative period.

The effect of recombinant stromal cell-derived factor-1 treatment on hypoxic-ischemic brain injury in neonatal mice.

Background: Stromal cell-derived factor-1 (SDF-1) plays a critical role in adult brain injury repair including neurogenesis and vasculogenesis. However, the effects of recombinant SDF-1(rSDF-1) treatment on hypoxic-ischemic (HI) brain injury in neonatal mice are not clear.

Materials And Methods: Seven-day-old (P7) C57BL/6J mice were divided into sham group, control group, and rSDF-1 group.

[Effects of pseudolaric acid B on apoptosis of bladder cancer cell 5637].

Objective: To investigate the apoptosis of bladder cancer cell 5637 induced by pseudolaric acid B in vitro and its mechanism.

Method: The cell proliferation was detected by MTT assay;the cell cycle was measured by flow cytometry; the cell apoptosis was observed by flow cytometry with Annexin V-FITC/PI double staining; the expressions of survivin protein and caspase-3 protein were detected by Western blot assay.

Result: It showed that pseudolaric acid B remarkably induced apoptosis of 5637 cell line.

Gestational diabetes mellitus in women of single gravidity in Tianjin City, China.

Objective: The aim of this study was to investigate the prevalence of gestational diabetes mellitus (GDM) and risk factors for the development of GDM in pregnant women in Tianjin, China, where the prevalence of GDM is still unknown.

Study Design And Methods: A total of 9,471 pregnant women living in the six urban districts of Tianjin, China, took part in the initial screening between December 1998 and December 1999. The screening test consisted of a 50-g 1-h glucose test.