TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.

Comparison of Previous Infectious and Allergic Diseases Between Patients with Kawasaki Disease and Propensity Score-matched Controls: A Nationwide Cohort Study.

OBJECTIVE: To determine whether previous infectious and allergic diseases are associated with the development of Kawasaki disease in children. STUDY DESIGN: This nationwide, population-based, case-control study used data from the Korean National Health Insurance claims database. The entire cohort consisted of patients younger than 5 years of age diagnosed with Kawasaki disease and 1:5 propensity score-matched controls from 2013 to 2019. The epidemiologic features and previous infectious or allergic diseases between the 2 groups were compared, and potential factors that could influence the association were identified. RESULTS: In total, 32 964 patients diagnosed with Kawasaki disease and 164 820 controls were included. Patients with Kawasaki disease had more frequent diagnoses of previous sepsis or bacteremia (OR 1.41), acute pyelonephritis (OR 1.10), and otitis media (OR 1.24). In addition, Kawasaki disease was associated with previous diagnoses of atopic dermatitis (OR 1.05), urticaria (OR 1.08), and asthma (OR 1.05). The association between previous infectious or allergic diagnoses and Kawasaki disease was more prominent in younger patients (<2 years). However, intravenous immunoglobulin resistance, sex, and region of residence were not significant factors that consistently influenced the association between previous infectious or allergic diseases and Kawasaki disease. CONCLUSIONS: Despite the increased rates of previous infectious and allergic diseases in patients with Kawasaki disease compared with controls, the association between allergic diseases and Kawasaki disease was weaker in our cohort than in previous studies.

Five-Year Trends in Pediatric Mental Health Emergency Department Visits in Massachusetts: A Population-Based Cohort Study.

OBJECTIVES: To evaluate temporal changes in pediatric emergency department (ED) visits for mental health problems in Massachusetts based on diagnoses and patient characteristics and to assess trends in all-cause pediatric ED visits. STUDY DESIGN: This statewide population-based retrospective cohort study used the Massachusetts All-Payer Claims Database, which includes almost all Massachusetts residents. The study sample consisted of residents aged <21 years who were enrolled in a health plan between 2013 and 2017. Using multivariate regression, we examined temporal trends in mental health-related and all-cause ED visits in 2013-2017, with person-quarter as the unit of analysis; we also estimated differential trends by sociodemographic and diagnostic subgroups. The outcomes were number of mental health-related (any diagnosis, plus 14 individual diagnoses) and all-cause ED visits/1000 patients/quarter. RESULTS: Of the 967 590 Massachusetts residents in our study (representing 14.8 million person-quarters), the mean age was 8.1 years, 48% were female, and 57% had Medicaid coverage. For this population, mental health-related (any) and all-cause ED visits decreased from 2013 to 2017 (P < .001). Persons aged 18-21 years experienced the largest declines in mental health-related (63.0% decrease) and all-cause (60.9% decrease) ED visits. Although mental health-related ED visits declined across most diagnostic subgroups, ED visits related to autism spectrum disorder-related and suicide-related diagnoses increased by 108% and 44%, respectively. CONCLUSIONS: Overall rates of pediatric ED visits with mental health diagnoses in Massachusetts declined from 2013 to 2017, although ED visits with autism- and suicide-related diagnoses increased. Massachusetts' policies and care delivery models aimed at pediatric mental health may hold promise, although there are important opportunities for improvement.

Prediction Model for the Differential Diagnosis of Kawasaki Disease and Acute Cervical Lymphadenitis in Patients Initially Presenting with Fever and Cervical Lymphadenitis.

OBJECTIVES: To distinguish early-stage lymph node first presentation of Kawasaki disease from acute cervical lymphadenitis, we developed an algorithm using sequential laboratory marker levels and radiologic findings. STUDY DESIGN: Data were obtained from pediatric inpatients initially presenting with fever and cervical lymphadenopathy. Discriminative factors for the differential diagnosis of acute cervical lymphadenitis and lymph node first presentation of Kawasaki disease were identified from intergroup comparison or univariate logistic regression analysis. A model for differentiating between lymph node first presentation of Kawasaki disease and acute cervical lymphadenitis was constructed using decision-tree analysis. RESULTS: Patients were divided into 2 cohorts: training (206 patients) and validation (103 patients) cohorts. A decision-tree model developed from the data of the training cohort included 3 determinants: neck computed tomography- or ultrasonography-defined abscess, percentage change in C-reactive protein level, and percentage change in neutrophil count. The prediction power of our decision-tree model for the validation cohort was superior to that of previously known laboratory markers (sensitivity of 89.5%, specificity of 88.9%, positive predictive value of 95.8%, negative predictive value of 75.0%, overall accuracy of 89.3%, and a Youden index of 0.784). CONCLUSIONS: A decision-tree model could differentiate lymph node first presentation of Kawasaki disease from acute cervical lymphadenitis with an increased accuracy. External validation based on multicenter data is needed before clinical application.