The long-term development outcomes of the offspring born to patients with systemic lupus erythematosus: a cross-sectional study.

This study aims to explore the long-term physical, neurological, social and emotional development outcomes of the offspring born to patients with systemic lupus erythematosus (SLE), and to provide insights that can assist pediatricians in enhancing the long-term prognosis of these children. We conducted a cross-sectional study on the offspring of SLE patients who had undergone pregnancy and were admitted to our obstetrics department between January 1, 2016 and September 30, 2021. The control group consisted of offspring born to mothers without connective tissue disease, and was matched 1:1 based on age (birth date ± 1 month) with the offspring of SLE patients.

SETD1B variants associated with absence seizures.

Aim: Exploring the association between SETD1B variants and absence seizures (ASs).

Methods: We engaged a small cohort of four pediatric epilepsy patients with identified SETD1B variants and conducted a comprehensive review of 50 documented instances. Clinical profiles were meticulously compiled, and genetic screening was executed via trio-based whole-exome sequencing.

Maternal gestational weight gain and the long-term physical and neurological outcome of small for gestational age children: A 4-year real-world study based on a longitudinal cohort.

Background: Globally, small for gestational age (SGA) is increasingly prevalent, paralleling the common high-risk pregnancies with inappropriate gestational weight gain (GWG). However, whether maternal GWG was associated with their SGA offspring's long-term development remained unresolved.

Objective: To examine the associations of maternal GWG with the long-term physical and neurological development of SGA children based on a real-world cohort in our hospital.

A taxonomic study of the genus Antepipona de Saussure, 1855 (Hymenoptera: Vespidae: Eumeninae) from China, with two new species and three new records.

In this paper, two new species, namely Antepipona foveapronota Qin, Chen & Li, sp. nov. from Hainan (China) and A.

Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.

Background: Epilepsy is not common in pediatric patients with phosphatase and tensin homolog (PTEN) variants. The characteristics of epilepsy, reactions to antiseizure medications, and prognosis in these patients are not fully understood. The aim of this study was to elucidate the characteristics of epilepsy and developmental outcomes in pediatric patients with PTEN variants.

The correlation between placental growth factor and small for gestational age infants: a matched case-control study.

Background: At present, research has not found easily accessible, accurate, and safe clinical biomarkers that can effectively predict the occurrence of infants born small for gestational age (SGA). The aim of this study is to explore the predictive role of maternal placental growth factor (PIGF) levels on the occurrence of SGA infants.

Method: We conducted a matched case-control study on 226 SGA infants and 226 non-SGA infants born in the Department of Obstetrics, Peking University People's Hospital, from January 2021 to December 2022, with regular monitoring of maternal serum PIGF levels in second trimester during pregnancy.

[Research Hotspots on Systemic Lupus Erythematosus in Pregnancy Based on Bibliometrics].

Objective To explore the research hotspots on systemic lupus erythematosus (SLE) in pregnancy based on the bibliometric analysis of the related articles published from 2018 to 2023 and provide directions for the future research in this field. Methods PubMed,Web of Science,and Embase were searched for the articles on SLE in pregnancy that were published from January 1,2018 to December 31,2023.VOSviewer was used to visualize the high-frequency keywords in the selected articles.

Variants loci and phenotype correlation of related neuro-renal syndrome: three cases reports and literature review.

Background: -related neuro-renal syndrome (NRS), caused by pathogenic variants of the gene, is characterized by epilepsy, developmental delay (DD) and renal disorders. The severity of the neurological effects as well as the presence of renal disorders is variable among patients. Here, we report three additional patients with clinical features compatible with NRS and summarize the association between the variants' loci and phenotype of -related NRS.

A long journey to treat epilepsy with the gut microbiota.

Epilepsy is a common neurological disorder that affects approximately 10.5 million children worldwide. Approximately 33% of affected patients exhibit resistance to all available antiseizure medications, but the underlying mechanisms are unknown and there is no effective treatment.

A generalized seizure type: Myoclonic-to-tonic seizure.

Background And Purpose: To test the hypothesis that myoclonic seizures can evolve to tonic seizures, we documented the electroclinical features of this under-recognized seizure type.

Methods: We observed a distinct seizure pattern starting with myoclonus without returning to an interictal state, which subsequently evolved into generalized tonic seizures. The detailed symptomatic and electroencephalographic characteristics of this seizure were extracted, and the clinical manifestations, drug curative responses in patients with this seizure were reviewed and analyzed.

Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent missense variant p.R327H in Chinese children.

gene encodes for the voltage-gated potassium channel protein Kv10.2. Here, we investigated the clinical features of developmental and epileptic encephalopathy (DEE) in five Chinese pediatric patients with a missense mutation (p.

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

Background: Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clinical findings. In recent years, advancements in next-generation sequencing, including whole-exome sequencing, have led to the incidental identification of dual diagnoses in patients. Herein we present the cases of five pediatric patients diagnosed with dual rare genetic diseases.

[Factors influencing the occurrence of small for gestational age at different degrees].

Objectives: To investigate the factors influencing the occurrence of small for gestational age (SGA) at different degrees and provide a basis for early identification of severe SGA cases.

Methods: Neonatal and maternal prenatal information were retrospectively collected from January 2018 to December 2022 at Peking University People's Hospital. The neonates were divided into three groups: severe SGA group (birth weight below the 3rd percentile for gestational age and sex), mild SGA group (birth weight ≥3rd percentile and <10th percentile), and non-SGA group (birth weight ≥10th percentile).

POLR3-related leukodystrophy caused by biallelic and pathogenic variants: a single-center experience.

Objectives: This study aimed to investigate the clinical, radiological, and genetic features of POLR3-related leukodystrophy caused by mutations in or .

Methods: Fourteen Chinese patients with POLR3-related leukodystrophy were enrolled in this cross-sectional observational study. The clinical manifestations, brain MRI and genetic tests of the patients were evaluated.

Glucocorticoid use and varying doses on the long-term outcomes of offspring born to patients with systemic lupus erythematosus.

This study aims to assess the impact of non-fluorinated glucocorticoid use and varying doses on the long-term physical, neurological, and social-emotional development outcomes of offspring born to patients with systemic lupus erythematosus (SLE). The goal is to provide guidance on the appropriate dosage of glucocorticoids during pregnancy in SLE patients. We conducted a follow-up study on the offspring of SLE patients who had pregnancies and were admitted to our obstetrics department between January 1, 2016, and September 30, 2021.

[Association of pregnancy factors with cow's milk protein allergy in infants].

Objective: To preliminarily explore the association of pregnancy factors with cow's milk protein allergy in infants.

Methods: This study was based on data from a subcohort of a study called genetic susceptibility to cow's milk allergy in Chinese children, including infants born in Peking University People's Hospital between March 1, 2020, and December 31, 2020. The infants were divided into a cow's milk protein allergy (CMPA) group and a control group according to whether they had developed cow's milk protein allergy at the age of 1 year.

Genotype and phenotype correlation of -related neurological disorders.

Background: PHACTR1 (phosphatase and actin regulators) plays a key role in cortical migration and synaptic activity by binding and regulating G-actin and PPP1CA. This study aimed to expand the genotype and phenotype of patients with variants in and analyse the impact of variants on protein-protein interaction.

Methods: We identified seven patients with variants by trio-based whole-exome sequencing.

Predictive effects of platelet-to-lymphocyte ratio on neonatal thrombocytopenia in primary immune thrombocytopenic mothers: a retrospective cohort study.

Background: Primary immune thrombocytopenia (ITP) can increase the risk of neonatal thrombocytopenia (NT). This study aimed to investigate the key factors for predicting the risk of NT.

Methods: Data were retrospectively collected from all pregnant women with ITP from 2015 to 2021.

Electroclinical Features and Long-Term Photosensitivity Outcome in Patients With Photoparoxysmal Response With Epilepsy.

Background: To investigate electroclinical phenotypes and long-term photosensitivity outcome in a large pediatric cohort of patients with epilepsy with photosensitivity.

Methods: Patients with epilepsy with photosensitivity with four or more years of follow-up were included. Sustained terminal remission (STR) of photosensitivity (≥3.

Astrocyte-derived complement C3 is activated in patients with tuberous sclerosis complex and mediates immune injury: an integrated bioinformatics analysis.

Background: Tuberous sclerosis complex (TSC) is a genetic disorder associated with multiple neurological manifestations. Cortical tubers (CT) are recognized as the hallmark brain lesions of TSC and contribute to neurological and psychiatric symptoms. To understand the molecular mechanism of neuropsychiatric features of TSC, the differentially expressed genes (DEGs) in CT from patients with TSC and those in normal cortex (NC) from participants acting as healthy controls were investigated.

Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis.

Background: The most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms that are highly fatal to later-onset forms which are milder. In this study, the first case of an asymptomatic Chinese woman with a defect in congenital cobalamin (cblC type) metabolism at prenatal diagnosis due to elevated homocysteine level is identified.

The ketogenic diet for Dravet syndrome: A multicenter retrospective study.

Objective: The ketogenic diet (KD) is one of the main treatments for drug-resistant epilepsy. However, there have been few multicenter reports on the use of the KD for the treatment of Dravet syndrome (DS). The aim of this study was to analyze the efficacy and safety of this approach based on a large number of multicenter cases.

Additions to the knowledge of the genus Parancistrocerus Bequaert, 1925 from China (Hymenoptera: Vespidae: Eumeninae).

In this paper, three new species, namely Parancistrocerus fragilitergus sp. n. from Guangxi (China), P.