Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening.

Hearing loss is a common congenital condition. Concurrent newborn hearing and limited genetic screening has been implemented in China for the last decade. However, the role of gene sequencing screening has not been evaluated.

Hyaluronic acid-modified and verteporfin-loaded polylactic acid nanogels promote scarless wound healing by accelerating wound re-epithelialization and controlling scar formation.

Wound healing is a common occurrence. However, delayed healing and aberrant scarring result in pathological wound healing. Accordingly, a scarless wound healing remains a significant clinical challenge.

Differences in Efficacy and Safety of Sirolimus and Sildenafil in Pediatric Lymphatic Malformations.

Objectives: To explore the differences in the efficacy and safety of oral sirolimus and sildenafil in the treatment of pediatric intractable lymphatic malformations (LMs).

Methods: From January 2014 to May 2022, we retrospectively enrolled children with intractable LMs treated with oral drugs (sirolimus or sildenafil) and divided the patients into sirolimus and sildenafil groups from Beijing Children's Hospital (BCH). Clinical features, treatment, and follow-up data were collected and analyzed.

Socioeconomic inequalities in cancer incidence and access to health services among children and adolescents in China: a cross-sectional study.

Background: Despite the substantial burden caused by childhood cancer globally, childhood cancer incidence obtained in a nationwide childhood cancer registry and the accessibility of relevant health services are still unknown in China. We comprehensively assessed the most up-to-date cancer incidence in Chinese children and adolescents, nationally, regionally, and in specific population subgroups, and also examined the association between cancer incidence and socioeconomic inequality in access to health services.

Methods: In this national cross-sectional study, we used data from the National Center for Pediatric Cancer Surveillance, the nationwide Hospital Quality Monitoring System, and public databases to cover 31 provinces, autonomous regions, and municipalities in mainland China.

Young Children Allergic Rhinitis Questionnaire is a novel tool for allergy screening in children.

Background: There are a limited number of validated questionnaires available for use in the clinical screening for allergic rhinitis (AR) in children ≤3 years old. We developed a novel self-reported questionnaire and assessed its accuracy and reliability.

Methods: After establishing a pool of items, which were screened by experts, the Young Children Allergic Rhinitis Questionnaire (YCAR-Q) was administered to a birth cohort in the Shunyi District (Beijing, China).

Clinical Heterogeneity of Differentiated Thyroid Cancer between Children Less than 10 Years of Age and Those Older than 10 Years: A Retrospective Study of 70 Cases.

Objectives: The objectives of this study were to explore the clinical heterogeneity of differentiated thyroid cancer (DTC) between prepubertal children and adolescents and guide clinical treatment.

Methods: A retrospective study included patients with DTC aged ≤19 years in Beijing Children's Hospital from June 2014 to June 2019. All patients were enrolled and divided into 2 subgroups based on the threshold age of 10 years, namely the childhood group (CG) (≤10 years old); and the adolescent group (AG) (between 10 and 19 years old).

Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China.

Different newborn screening (NBS) programs have been practiced in many countries since the 1960s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing (NESTS) program to screen 11,484 babies in 8 Women and Children's hospitals nationwide in China retrospectively.

Clinical implications of TPO and AOX1 in pediatric papillary thyroid carcinoma.

Background: Thyroid carcinoma is a common pediatric head and neck cancer, of which papillary thyroid cancer (PTC) is the most common type. Previously, we found that thyroid peroxidase () and aldehyde oxidase 1 () were differentially expressed in PTC. This study explored the clinical importance of and in the diagnosis and prognosis of PTC in children.

A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation.

Background: Lymphatic malformations (LMs) are benign congenital malformations that stem from the abnormal development of the lymphatic vessels during early embryogenesis. Somatic PIK3CA gene mutations are conventional cause leading to LMs. Both macrocystic and microcystic LMs arise due to lymphatic endothelial cell-autonomous defects, depending on the time in development at which PIK3CA gene mutation occurs.

Efficacy of Initial Sirolimus Therapy for 27 Patients with Intractable Lymphatic Malformations.

Objective/hypothesis: To evaluate the efficacy of initial sirolimus therapy in the treatment of intractable head and neck lymphatic malformations (LMs) in children.

Study Design: Prospective open-label study.

Methods: In this study, Twenty-seven children diagnosed with LMs were given oral sirolimus as primary treatment over a minimum 6-month trial.

Surgical Treatment of Cervicothoracic Junction Lesions in Children: A Series of 18 Cases.

The cervicothoracic junction (CTJ) lesions in children is rare. Surgical treatment for lesions at the cervicothoracic junction is challenging due to the presence of the great vessels and other thoracic structures. There are no criteria that help select a surgical approach to manage cervicothoracic lesions in children so far.

Endoscopy-assisted, transoral submucosal coblation for pediatric retropharyngeal lymphatic malformations.

Objective: Retropharyngeal lymphatic malformations (LMs) are uncommon congenital anomalies. Open surgery, sclerotherapy and various pharmaceutical agents have been described to manage these lesions. However, when such lesions involve the retropharyngeal space with evidence of airway compromise, none of the above aforementioned modalities has shown superior result without repeated imaging and procedures.

Bioinformatics analysis to screen key genes in papillary thyroid carcinoma.

Papillary thyroid carcinoma (PTC) is the most common type of thyroid carcinoma, and its incidence has been on the increase in recent years. However, the molecular mechanism of PTC is unclear and misdiagnosis remains a major issue. Therefore, the present study aimed to investigate this mechanism, and to identify key prognostic biomarkers.

Correlation between TERT C228T and clinic-pathological features in pediatric papillary thyroid carcinoma.

The aims of the present study were to reveal the prevalence of the TERT C228T mutation in pediatric papillary thyroid carcinoma (PPTC) and to further investigate the role of the TERT C228T mutation in PPTC. We also tested another TERT mutation, TERT C250T, although this was not detected in PPTC patients. In this study, 48 patients with PPTC (41 with classic PPTC) were enrolled.

Clinical analysis of surgical treatment for head and neck lymphatic malformations in children: a series of 128 cases.

Lymphatic malformations (LMs) are caused due to abnormal lymphatic development, and mainly occur in neonates or young children. At present, the role of surgery in the treatment of head and neck LMs is still controversial, focusing mainly on surgical efficacy and indications. This study aimed to explore the effect and influential factors of surgical treatment in children with head and neck LMs, hoping to provide a basis for rational selection of surgical indications.

Up-regulated lipocalin-2 in pediatric thyroid cancer correlated with poor clinical characteristics.

Background: The incidence of thyroid cancer is fast increasing in both adults and children. The pediatric thyroid cancer had often already progressed to a more advanced stage of the disease at diagnosis. Early detection of pediatric thyroid cancer has been a problem for many years.

Effect of Adaptive Compression and Fast-Acting WDRC Strategies on Sentence Recognition in Noise in Mandarin-Speaking Pediatric Hearing Aid Users.

Background: Wide dynamic range compression (WDRC) has been widely used in hearing aid technology. However, several reports indicate that WDRC may improve audibility at the expense of speech intelligibility. As such, a modified amplification compression scheme, named adaptive compression, was developed.

CO laser cauterization approach to congenital pyriform sinus fistula.

Objective: To evaluate the efficacy of CO laser cauterization with suspension microlaryngoscopy as a definitive surgical treatment for pediatric Congenital Pyriform Sinus Fistula (CPSF).

Material And Methods: This is a cohort retrospective study. Thyroid function and cervical ultrasonography examinations were performed before operation.

Correlation between BRAF mutation and clinicopathological features in pediatric papillary thyroid carcinoma.

In adults, the presence of the BRAF mutation in papillary thyroid cancer (PTC) has been demonstrated to be strongly associated with aggressive cancer-cell characteristics and poor patient prognosis. In contrast, the frequency of this mutation in pediatric PTC has undergone limited study, and the few available estimates range from 0 to 63%. Furthermore, the role of the BRAF mutation in pediatric PTC is controversial; thus, the present study aimed to investigate the prevalence and role of the BRAF mutation in 48 pediatric patients with PTC, aged 3-13 years.

Efficacy and safety of oral sildenafil in treatment of pediatric head and neck lymphatic malformations.

Conclusions: Low dose oral sildenafil citrate tablets are safe and effective to decrease the lesions volume in some LMs children, especially with macrocystic lesion or mixed type.

Objective: To evaluate the efficacy and safety of oral sildenafil in treatment of pediatric head and neck lymphatic malformations (LMs).

Subjects And Methods: In this open-label study, 21 children diagnosed with LMs were given oral sildenafil and stopped at week 24.

Co-expression of mouse TMEM63A, TMEM63B and TMEM63C confers hyperosmolarity activated ion currents in HEK293 cells.

Osmoreception is essential for systemic osmoregulation, a process to stabilize the tonicity and volume of the extracellular fluid through regulating the ingestive behaviour, sympathetic outflow and renal function. The sensation of osmotic changes by osmoreceptor neurons is mediated by ion channels that detect the change of osmolarity in extracellular fluid. However, the molecular identity of these channels remains mysterious.