Umakanth Katwa

Accurate identification of acute and subacute subdural hematoma (acute/subacute SDH) is critical for improved patient outcomes. However, large-scale research is hindered by unreliable identification methods in electronic health records (EHRs). Current approaches relying on International Classification of Diseases (ICD) codes lack specificity and cannot distinguish acute, subacute, and chronic cases; manual chart review is too labor-intensive to scale. We developed an automated phenotyping algorithm using structured data and unstructured clinical notes for high-accuracy retrospective identification of acute/subacute SDH. We analyzed 2999 records from two hospitals, including ICD-positive and ICD-negative acute/subacute SDH cases verified by manual chart review. Features for model training included ICD codes, Current Procedural Terminology (CPT) codes, and clinical note keywords. Logistic regression and random forest models were trained using cross-validation and evaluated using AUROC and AUPRC. External validation involved training on one hospital and testing on the other. The random forest keywords-only model performed best, achieving an AUROC of 0.985 (95% CI: 0.980–0.990) and AUPRC of 0.944 (95% CI: 0.923–0.962) on the test set. External validation demonstrated strong AUROCs of 0.965 and 0.971 and AUPRCs of 0.831 and 0.840. The overall error rate was <1%. This model provides a scalable, highly accurate approach to acute/subacute SDH detection in EHR research.

Asthma is common in children and exacerbations are usually triggered by respiratory viruses. There was considerable concern about the impact of COVID-19 on children with asthma. It was expected that children with asthma would fare poorly during the pandemic. However, the reported effect of the COVID-19 pandemic on pediatric asthma including acute asthma admissions, does not appear to be significant, but this needs careful follow-up. The socioeconomic effects of the pandemic and reduced healthcare access could potentially impact on ongoing delivery of health care in chronic respiratory conditions including asthma, especially in resource-poor settings. Children with chronic asthma need to be treated as per internationally published guidelines with innovative models of disease monitoring and ongoing care during the pandemic. During the pandemic, children with acute asthma need to be managed carefully based on local guidelines and using strict infection control policies. The use of technology such as telehealth and various tools of asthma management including questionnaires and digital monitoring will play an important role in asthma management during the pandemic. Medical professionals, healthcare administrators, and governments should be sensitive to the evolving needs of the community and work closely to continue to provide services in a challenging yet unresolved pandemic.

Arnold-Chiari malformations are structural defects in the base of the skull and cerebellum, when part of the cerebellar tonsils herniates through the foramen magnum into the upper spinal canal, com...

Arnold Chiari malformation (ACM) is the most common cause of central sleep apnea (CSA) in otherwise healthy children. Although there are several case reports and series reported on this topic, ther...

Laryngomalacia is a common cause of chronic noisy breathing that can present as stridor in infants and neonates. Mild cases of laryngomalacia are usually followed clinically and managed conservatively. However, the evaluation and diagnosis could be challenging in some patients. We present a case of a 3-week-old male infant with persistent and worsening noisy breathing, snoring, and poor weight gain, prompting further evaluation. The patient had an initial diagnosis of laryngomalacia and obstructive sleep apnea with complete resolution of loud breathing with continuous positive airway pressure. A repeated evaluation of the upper airway for further investigation led to the diagnosis of a neck mass compressing the airway. We review the clinical presentation, management, and follow-up of this patient, as well as the literature of possible etiologies. In the case of our patient, timely diagnosis and treatment had significant prognostic implications.

Obstructive sleep apnea is characterized by prolonged partial upper airway obstruction or intermittent complete obstruction that disrupts normal ventilation during sleep and alters normal sleep patterns. Patients with obstructive sleep apnea tend to develop neurocognitive, cardiovascular, behavioral, attention issues, and poor academic performance. Therefore, it is essential to diagnose and treat obstructive sleep apnea early and avoid significant and long-lasting adverse outcomes. Most commonly, upper airway obstruction is caused by enlarged lymphoid tissues within the upper airway, and therefore adenotonsillectomy is considered as the first-line treatment of obstructive sleep apnea in children. Fifty to 70% of patients who have obstructive sleep apnea and treated by surgery are not entirely cured on follow-up polysomnography. In light of this, it is recommended that patients with suspected obstructive sleep apnea undergo a thorough evaluation, and all potential risk factors are identified and treated. The purpose of this review is to familiarize pediatricians with developmental, anatomical, and physiological risk factors involved in the development of obstructive sleep apnea. Additionally, we will present an array of evaluation techniques that can offer adequate assessment of the patient's upper airway anatomy and physiology.

Congenital central hypoventilation syndrome (CCHS) is a disorder of ventilatory control and autonomic dysregulation that can be caused by mutations in the paired‐like homeobox 2B (PHOX2B) gene. The majority of CCHS cases are caused by polyalanine repeat mutations (PARMs) in PHOX2B; however, in rare cases, non‐polyalanine repeat mutations (NPARMs) have been identified. Here, we report two patients with NPARMs in PHOX2B. Patient 1 has a mild CCHS phenotype seen only on polysomnogram, which was performed for desaturations and stridor following a bronchiolitis episode, and characterized by night‐time hypoventilation and a history of ganglioneuroblastoma. She carried a novel de novo missense variant, p.R102S (c.304C > A), in exon 2. Patient 2 has an atypical CCHS phenotype including micrognathia, gastroesophageal reflux, stridor, hypopnea, and intermittent desaturations. Sleep study demonstrated that Patient 2 had daytime and night‐time hypercarbia with obstructive sleep apnea, requiring tracheostomy. On PHOX2B sequencing, she carried a recently identified nonsense variant, p.Y78* (c.234C > G), in exon 1. In summary, we present two patients with CCHS and identified NPARMs in PHOX2B who have distinct differences in phenotype severity, further elucidating the range of clinical outcomes in CCHS and illustrating the necessity of considering PHOX2B mutations when encountering atypical CCHS presentations.

Asthma is the most common chronic pediatric condition. Effective asthma management requires a proactive and inclusive approach that controls the patient’s symptoms and prevents recurrence of exacerbations. Clinicians should encourage patients to become involved in their management since self-management approaches have proven to be an effective means for chronic illness treatment. Novel forms of self-monitoring and management are technological interventions. In the last decade, novel technology has been developed and used to improve asthma control since it is a powerful agent that addresses a variety of challenges in chronic disease management such as education, communication and adherence. A myriad of technology-based strategies are available although many of these are not evidence based and further studies are needed to evaluate their efficacy in specific asthma-control endpoints. Herein, authors present a review of current and future technology-based options for asthma management and a comparison between them.