Skin-Interfaced Bifluidic Paper-Based Device for Quantitative Sweat Analysis.

The erratic, intermittent, and unpredictable nature of sweat production, resulting from physiological or psychological fluctuations, poses intricacies to consistently and accurately sample and evaluate sweat biomarkers. Skin-interfaced microfluidic devices that rely on colorimetric mechanisms for semi-quantitative detection are particularly susceptible to these inaccuracies due to variations in sweat secretion rate or instantaneous volume. This work introduces a skin-interfaced colorimetric bifluidic sweat device with two synchronous channels to quantify sweat rate and biomarkers in real-time, even during uncertain sweat activities.

[Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene].

Objective: To explore the diagnosis, treatment and genetic analysis of an infant with Schaaf-Yang syndrome (SYS).

Methods: An infant suspected for SYS at the Hunan Provincial Children's Hospital on June 10, 2022 was subjected to trio-whole exome sequencing, and Sanger sequencing was used to verify the candidate variant. Structure of the wild-type and mutant proteins was constructed to analyze the potential hazard.

Effects of ketogenic diet on the classification and functional composition of intestinal flora in children with mitochondrial epilepsy.

The ketogenic diet (KD) has shown excellent performance in the treatment of refractory epilepsy, but how it works is not yet fully understood. Gut microbiota is associated with various neurological disorders through the brain-gut axis. Different dietary patterns have different effects on the composition and function of gut microbiota.

[Clinical characteristics of four children with 3M syndrome and a literature review].

Objective: To analyze the clinical features of 3M syndrome and effect of growth hormone therapy.

Methods: Clinical data of four children diagnosed with 3M syndrome by whole exome sequencing at Hunan Children's Hospital from January 2014 to February 2022 were retrospectively analyzed, which included clinical manifestation, results of genetic testing and recombinant human growth hormone (rhGH) therapy. A literature review was also carried our for Chinese patients with 3M syndrome.

[Analysis of clinical phenotype and genetic variants in a child with mitochondrial F-S disease due to variants of FDXR gene].

Objective: To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease.

Methods: A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected.

[Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene].

Objective: To explore the clinical characteristics and genetic etiology of a child with Aicardi-Goutières syndrome 3 (AGS3).

Methods: Trio whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. To further clarify their pathogenicity, the crystal structure of the variants was simulated and analyzed, and the plasmid of variants was expressed in vitro.

Pituitary tumor transforming gene 1 promotes proliferation and malignant phenotype in osteosarcoma via NF-κB signaling.

Background: Pituitary tumor transforming gene (PTTG) is an oncogene reported to be actively promotes tumorigenesis in multiple tumors. Osteosarcoma (OS) is the most common primary osseous sarcoma, however, the functional significance and mechanisms underlying whether and how PTTG1 promotes OS remain largely unknown.

Methods: Here, in our study, PTTG1 levels in clinical samples and cell lines were determined by western blotting and immunohistochemistry.

Efficacy and Safety of the Ketogenic Diet for Mitochondrial Disease With Epilepsy: A Prospective, Open-labeled, Controlled Study.

Background: The ketogenic diet (KD) is increasingly used to treat drug-resistant epilepsy because of its favorable effect on seizure reduction. Patients with mitochondrial diseases tend to experience seizures. Therefore, this study aimed to test the efficacy of the KD on participants with mitochondrial diseases in a controlled trial.

Clinical effect evaluation and complication analysis of different auricle reconstruction of congenital microtia.

This study compared the clinical efficacy and complications of autogenous rib cartilage stent and Medpor stent auricle reconstruction in patients with congenital microtia. A total of 300 patients with congenital microtia were selected as the research objects. 150 patients in the auricle reconstruction group with autologous rib cartilage stent and 150 patients in the auricle reconstruction group with Medpor stent were selected.

A Multicenter Survey of Type I Diabetes Mellitus in Chinese Children.

Purpose: To investigate the features and treatment status of children with type 1 diabetes mellitus (T1DM) in China.

Methods: We recruited patients <14 years of age with T1DM from 33 medical centers in 25 major cities of China between January 2012 and March 2015. All patients completed a questionnaire that was conducted by their pediatric endocrinologists at all centers.

[Clinical analysis of 14 cases with childhood acute lymphoblastic leukemia complicated with tropical candidemia].

To investigate the clinical feature, diagnosis, treatment and prognosis of childhood acute lymphoblastic leukemia (ALL) complicated with candida tropicalis bloodstream infection (CTBI), so as to improve the understanding of this disease. The general information, clinical manifestation, auxiliary examination, treatment and outcome of 14 childhood ALL who were diagnosed with tropical candidemia between January 2015 and December 2018 in 6 hospitals were analyzed retrospectively. Clinical data of non invasive fungal disease (IFD) ALL (28 cases) and other IFD children (9 cases) admitted in the same period were collected as control group.

[A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene].

Objective: To explore the genetic basis for a Chinese neonate with lipoprotein lipase deficiency.

Methods: Targeted capture and next-generation sequencing (NGS) were carried out to detect variants of genes associated with inborn errors of metabolism. Suspected variants were validated by Sanger sequencing.

[Clinical Significance of CRLF2 High Expression in Bone Marrow Mononuclear Cells from Children with Acute Lymphoblastic Leukemia].

Objective: To detect the expression of CRLF2 in bone marrow mononuclear cells from children with newly diagnosed acute lymphoblastic leukemia(ALL) and to explore its clinical significance in pediatric ALL.

Methods: A total of 218 children with newly diagnosed ALL who achieveal the complete remission and had the complete follow-up information were selected, and the expression level of CRLF2 in bone marrow mononuclear cells of these children was detected by real-time fluorescent quantitative PCR, and the significance of CRLF2 expression level in clinical prognosis of ALL children was analyzed by using statistical method.

Results: 28 cases in 218 children with complete data showed high expression of CRLF2.

[Effect of Icaritin on Proliferation and Apoptosis of THP-1 Cell and Its Mechanism].

Objective: To investigate the effect of icaritin on the proliferation and apoptosis of THP-1 cells and its mechanism.

Methods: After treated with various concentrations of icaritin, cell proliferation was detected by MTS method, and apoptosis was measured with flow cytometry and Hoechst 33258 staining. Expression of BCL-2, BAX and Caspase-3 protein in THP-1 cell was detected by Western blot.

Surfactant reduced the mortality of neonates with birth weight ⩾1500 g and hypoxemic respiratory failure: a survey from an emerging NICU network.

Objective: We evaluated the efficacy of surfactant therapy and assisted ventilation on morbidity and mortality of neonates with birth weight (BW) ⩾1500 g and hypoxemic respiratory failure (HRF).

Study Design: We retrospectively analyzed 5650 patients with BW ⩾1500 g for incidence, management and outcome of HRF, defined as acute hypoxemia requiring mechanical ventilation and/or nasal continuous positive airway pressure ⩾24 h. The patients were allocated into groups of moderate preterm (1735, 30.

Early inhaled nitric oxide in preterm infants <34 weeks with evolving bronchopulmonary dysplasia.

Objective: To investigate whether early treatment with inhaled nitric oxide (iNO) could prevent bronchopulmonary dysplasia (BPD) in very preterm infants.

Study Design: A non-randomized, controlled trial was conducted prospectively in 27 neonatal intensive care units over 12 months. Preterm infants with gestational age <34 weeks and after 7 days of life, who received invasive mechanical ventilation (MV) or nasal continuous positive airway pressure for >2 days, were treated either with low-dose iNO (from 5 as initial dose to 2 parts per million as maintenance dose for ⩾7 days, n=162) or as non-placebo control (n=240).

[Transcatheter closure in various types of congenital coronary artery fistula: a follow-up study].

Objective: To evaluate the short- and medium-term efficacy, complications, and anti-coagulation therapies related to transcatheter closure (TCC) of coronary artery fistula (CAF) in children.

Methods: We conducted a retrospective review of the medical records of 12 children with CAF who underwent TCC between January 2006 and January 2014, focusing on details such as preoperative, radiographic, and postoperative follow-up data, to record closure methods for CAF, anti-coagulation therapies, postoperative complications, and results of auxiliary examinations.

Results: Among the 12 cases who underwent successful TCC and whose age was 1-158 months, four patients had proximal/medium-sized CAF, five had proximal/large CAF, and three had distal/medium-sized CAF.

[Influential factors on congenital gastrointestinal malformation:a hospital-based case-control study].

Objective: To investigate the influential factors on congenital gastrointestinal malformation and to provide evidences for prevention.

Methods: A hospital-based case-control study was conducted among infants with or without congenital gastrointestinal malformation at Children's hospital of Hunan province, from April 2011 to August 2012. Parents of 120 cases with congenital gastrointestinal malformation and another 170 controls were asked to fill in a questionnaire.

[Role of Treg/Th17 balance in the pathogenesis of cytomegalovirus infection].

Aim: To investigate the role of Treg/Th17 balance in the immune-regulated mechanism of cytomegalovirus (CMV) infection.

Methods: According to the diagnostic criteria of the CMV infection, the patients with CMV infection were divided into the activate infection group and the latent infection group, and the normal children were recruited as control group. The percents of Treg and Th17 in peripheral blood were detected by flow cytometry to calculate Treg/Th17 ratio.

[Epileptiform discharges and sleep structure in children with nocturnal epilepsy].

Objective: To study the epileptiform discharges and sleep structure in children with nocturnal epilepsy.

Methods: A total of 54 children with nocturnal epilepsy (NE group) between December 2009 and June 2011 were enrolled in this study using a cluster sampling method. Their epileptiform discharges and sleep structure were monitored using nocturnal 12 h-video-echoencephalography (EEG) and polysomnography.

Exhaled nitric oxide in neonates with or without hypoxemic respiratory failure.

Background: Exhaled nitric oxide (eNO) is one of the airway condensate derived markers, reflecting mainly airway inflammation in asthma and other lung diseases. The changes of eNO levels as pathophysiology of neonatal hypoxemic respiratory failure (HRF) in early postnatal life have not been thoroughly studied. The present study was to establish a method for measuring eNO concentrations in neonates with or without HRF.