Pediatric Investigation最新文献

The tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) Checklist is a reliable global screening tool for TAND in clinical settings, with six dimensions and 12 sections. For Chinese individuals with TSC, the implementation of the TAND Checklist provides a comprehensive approach to evaluating potential manifestations across various domains.

Importance: The diagnosis of congenital auricular deformity often relies on the clinical experience of clinicians, leading to a high incidence of misdiagnosis and missed diagnosis due to the lack of quantitative diagnostic criteria.

Objective: To characterize auricle morphology in newborns from southern China and explore the underlying etiology of congenital auricle deformity.

Methods: A total of 636 neonates (1272 ears) with less than seven days old were included. The auricles of each infant were measured and photographed. The relationship between maternal factors and the occurrence of congenital auricle deformity was analyzed.

Results: The incidence of auricular deformity in southern China was 79.87%. Helical rim deformity and mixed deformity had the highest incidence (17.30% each), while cryptotia had the lowest incidence (0.31%). Among mixed deformities, lop ear with conchal crus ear was the most common (22.73%). Each type of auricle deformity had distinct measurement indicators: the vertical distance of cephalo-auricular was 73.97% longer and cephalo-superaurale was 70.00% longer in protruding ears compared to normal auricle; the vertical distance of cephalo-auricular was 10.96% less in lop ears, 15.07% less in conchal crus ears, and 41.1% longer in cup ears; the distance between helix and antihelix was 22.35% less in constricted ear, 12.94% greater in helical rim deformity, and 43.53% greater in Stahl's ear. Family history of hereditary ear deformity and paternal smoking were significant factors associated with ear deformity in southern China.

Interpretation: The incidence of auricle deformities is high in southern China, with significant differences in the morphometric structures of different auricle types.

Importance: Gastrointestinal complications are common perioperative complications in children with congenital heart disease (CHD), and as near-infrared reflectance spectroscopy (NIRS) provides a non-invasive, real-time monitoring of regional tissue oxygenation, we envisioned monitoring and preventing the development of gastrointestinal complications through the use of NIRS.

Objective: To assess the utility of NIRS for predicting gastrointestinal complication risks and determining optimal initial feeding times in infants post-cardiac surgery.

Methods: This retrospective study included 65 infants with CHD treated at our hospital from January 2021 to January 2022. We collected and analyzed data on mesenteric regional venous and arterial oxygen saturation, arterial partial pressure of oxygen, first lactic acid levels, timing of initial enteral feeding, and incidence of gastrointestinal complications.

Results: Out of 65, 61 infants were eligible for inclusion (four cases were excluded). Infants with gastrointestinal complications post-surgery showed significantly lower mesenteric NIRS values and earlier feeding times compared to those without complications (55.5 ± 3.3 vs. 59.6 ± 6.3, P = 0.029; and 59.8 ± 6.7 vs. 66.9 ± 5.7, P = 0.002, respectively). Multivariable binary logistic regression analysis revealed that mesenteric NIRS readings at the time of initial feeding independently predicted gastrointestinal complications (odds ratio, 0.802; 95% confidence interval, 0.693-0.928; P = 0.003). receiver operating characteristic curve analysis indicated a significant predictive value of mesenteric NIRS at initial feeding time (area under the curve: 0.799), with a suggested critical threshold of 63.1% (93% sensitivity, 70% specificity). Pearson correlation test confirmed a significant association between mesenteric NIRS at initial feeding time and the establishment of enteral feeding.

Interpretation: Mesenteric NIRS measurements at the time of initial feeding provide a reliable method for identifying infants at risk of gastrointestinal complications following cardiac surgery and can inform decisions regarding the timing of initial postoperative feeding.

Importance: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is limited.

Objective: To summarize the neurologic phenotypes and genetic causes in pediatric AGS patients, providing insights for early recognition and diagnosis in the Chinese population.

Methods: Clinical features and neuroimaging results of the patients diagnosed with AGS from Beijing Children's Hospital between January 2018 and January 2022 were collected. Whole exome sequencing was used for genetic analysis.

Results: A total of 15 patients was included, all presenting with various neurological symptoms, including developmental delay (100%), motor skill impairment (100%), language disability (78.6%), dystonia (93.3%), microcephaly (73.3%), sleep disorders (26.7%), regression (20.0%), vessel disease (6.7%), and epilepsy (6.7%). Neuroimaging revealed intracranial calcification (86.7%), cerebral atrophy (73.3%), and leukodystrophy (73.3%). Seven genes were identified, with TREX1 being the most common (40.0%, 6/15), followed by IFIH1 (20.0%, 3/15). Variant c.294dupA (p.C99Mfs*3) was detected in four unrelated patients, accounting for 66.7% (4/6) patients with the TREX1 variant. A literature review showed that TREX1 gene mutations in 35.6% (21/59) of AGS patients among the Chinese population.

Interpretation: Neurological symptoms are the most prevalent and severe presentation of AGS. Diagnosis may be considered when symptoms such as developmental delay, dystonia, microcephaly, brain calcification, and leukodystrophy emerge. TREX1 mutations are predominant in the Chinese population.

Importance: Tongue tie (TT) is a condition that can cause infant feeding difficulties due to restricted tongue movement. When TT presents as a significant barrier to breastfeeding, a frenotomy may be recommended. Universally accepted diagnostic criteria for TT are lacking and wide prevalence estimates are reported. New referral processes and a Frenotomy Assessment Tool were implemented in one Canadian health region to connect breastfeeding dyads with a provider for TT evaluation and frenotomy.

Objective: To determine the proportion of babies with TT as well as the frequency of frenotomy.

Methods: This cross-sectional study included infants who initiated breastfeeding at birth and were referred for TT evaluation over a 14-month period. Data were collected retrospectively by chart review and analyzed using SPSS. Factors associated with frenotomy were examined using logistic regression.

Results: Two hundred and forty-one babies were referred. Ninety-two percent (n = 222) were diagnosed with TT and 66.0% (n = 159) underwent frenotomy. In the multivariate model, nipple pain/trauma, inability to latch, inability to elevate tongue, and dimpling of tongue on extension were associated with frenotomy (P < 0.05). Most referrals in our region resulted in a diagnosis of TT; however, the number of referrals was lower than expected, and of these two-thirds underwent frenotomy.

Interpretation: TT is a relatively common finding among breastfed infants. Future research should examine whether a simplified assessment tool containing the four items associated with frenotomy in our multivariate model can identify breastfed infants with TT who require frenotomy.

The onset of critical rare diseases (RDs) in children is rapid and dangerous, accompanied by a high mortality rate, which brings a heavy burden to both families and society. Multiple malformations, neuromuscular diseases, metabolic diseases, and heart diseases are the most common types of RDs in children of China, often manifesting with multiple organ dysfunction. At present, the diagnosis and treatment of critical RDs in children face challenges such as prolonged diagnosis time, a high misdiagnosis rate, limited treatment modalities, and a significant disease burden. However, with the progress in genetic testing technology, the establishment of multidisciplinary diagnosis and treatment platforms, and the implementation of relevant RD policies in China, children with critical RDs will received enhanced medical services, experience improved prognoses, and reintegrate into social life.