Karim El-Kersh

Introduction: Children with spinal muscular atrophy (SMA) are at high risk for sleep-disordered breathing (SDB). This study compared polysomnogram (PSG) findings in children with SMA versus healthy controls and differences by functional status. Methods: In this single-center retrospective study, 17 children with confirmed SMA underwent an overnight PSG and were compared with 17 controls matched by age, sex, body mass index (BMI), and apnea–hypopnea index (AHI). Obstructive sleep apnea (OSA) severity was defined by obstructive AHI (OAHI): normal (<1/hr), mild (1–4.9), moderate (5–9.9), and severe (≥10). Results: Thirty-four PSGs were analyzed. Mean age was 4.0 (SMA) vs. 4.7 years (controls); 70.6% were female. OSA distribution was similar in both groups (47% none, 29% mild, 17% moderate, and 5% severe). Compared to controls, the SMA group had lower total sleep time (386.5 vs. 421.5 min, p=0.022), less N1 sleep (3.5 vs. 18.5 min, p=0.006), and reduced non-rapid eye movement (non-REM) sleep (255.3 vs. 333.2 min, p=0.004). Mean non-REM carbon dioxide (CO₂) was lower (39.5 vs. 42.3 mmHg, p=0.011), while mean heart rate (HR) was higher (100.8 vs. 87.1 bpm, p=0.017) in the SMA group. Central apnea (CA) time differed by functional status (non-sitters 3.8 seconds, sitters 2.9 seconds, and walkers 5.5 seconds; p=0.021). Periodic limb movement index (PLMI) was the highest in walkers (7.1 vs. 0.0 in other groups; p=0.02). Conclusion: Over half of the children with SMA exhibited SDB. Compared with AHI-matched controls, they showed reduced TST, lower non-REM CO₂, and PSG differences across functional statuses.

Palliative care can be offered concurrently as a treatment option to patients with pulmonary arterial hypertension (PAH) to relieve symptoms and improve quality of life. However, it is infrequently used and is associated with misconceptions. Limited studies have reported patients' perspectives of palliative care as a treatment option for PAH. We conducted a web‐based survey, informed by a brief targeted literature review and input from patients and clinicians, which was completed by adults (≥ 18 years) in the United States (US) with self‐reported PAH. Patients reported demographic and disease variables and their perspectives and experiences with palliative care. Patients self‐reported their Pulmonary Hypertension Functional Class Self‐Report class, EmPHasis‐10, and 6‐min walk test. A total of 200 respondents (86.5% female; mean age 58.5 years) from 42 US states completed the survey between 19 September and 3 October 2023. Most respondents described palliative care as “end‐of‐life care” ( n = 43, 25.7%) and associated it with the need for extra support ( n = 111, 55.5%). Many respondents ( n = 171, 85.5%) had not discussed palliative care services, nor had a palliative care consultation with their healthcare provider (HCP); most had not been offered a consultation ( n = 109/171, 63.7%). Despite this low frequency of discussions, respondents reported feeling comfortable discussing palliative care with their HCPs ( n = 177, 88.5%). The survey results demonstrated that these patients with PAH had limited experiences with palliative care, where palliative care was frequently subject to misinterpretation. These findings emphasize the need for proactive engagement between patients and HCPs to ensure palliative care is optimally used and understood.

Pulmonary arterial hypertension (PAH) and cancer share high mortality and complex prognoses. Due to PAH’s rarity, these parallels may be underrecognized by healthcare stakeholders. This study explored similarities between PAH and cancer across epidemiological, clinical, therapeutic, and healthcare resource utilization (HCRU) considerations. A four-step approach was employed: (1) inclusion/exclusion criteria were applied to identify potential PAH cancer analogs; (2) characteristics for comparison were categorized as epidemiologic, clinical, therapeutic landscape, and HCRU; (3) a targeted literature review extracted data on disease characteristics; (4) a similarity ranking was calculated as the absolute difference between each cancer’s and PAH’s characteristics. Fourteen cancers met the inclusion criteria. Well-differentiated thyroid cancer (WDTC) had the highest number (5) of characteristics closest to PAH. WDTC and medullary thyroid cancer were most similar to PAH in epidemiology; gastrointestinal stromal tumor was most similar in clinical and HCRU characteristics, and anaplastic lymphoma kinase-positive (ALK+) non-small-cell lung cancer and renal cell carcinoma were most similar in therapeutic landscape. Although no single cancer fully mirrors PAH, the identification of multiple analogs underscores PAH’s multidimensional complexity and confirms its overlap with oncological conditions. Cancer analogs could serve as a valuable framework for enhancing recognition of PAH’s clinical, therapeutic, and HRCU implications among healthcare stakeholders.

Background: Heart failure (HF) contributes greatly to morbidity, mortality, and health care costs worldwide. Hospital readmission rates are tracked closely and determine federal reimbursement dollars. No current modality or technology allows for accurate measurement of relevant HF parameters in ambulatory, rural, or underserved settings. This limits the use of telehealth to diagnose or monitor HF in ambulatory patients. Objective: This study describes a novel HF diagnostic technology using audio recordings from a standard mobile phone. Methods: This prospective study of acoustic microphone recordings enrolled convenience samples of patients from 2 different clinical sites in 2 separate areas of the United States. Recordings were obtained at the aortic (second intercostal) site with the patient sitting upright. The team used recordings to create predictive algorithms using physics-based (not neural networks) models. The analysis matched mobile phone acoustic data to ejection fraction (EF) and stroke volume (SV) as evaluated by echocardiograms. Using the physics-based approach to determine features eliminates the need for neural networks and overfitting strategies entirely, potentially offering advantages in data efficiency, model stability, regulatory visibility, and physical insightfulness. Results: Recordings were obtained from 113 participants. No recordings were excluded due to background noise or for any other reason. Participants had diverse racial backgrounds and body surface areas. Reliable echocardiogram data were available for EF from 113 patients and for SV from 65 patients. The mean age of the EF cohort was 66.3 (SD 13.3) years, with female patients comprising 38.3% (43/113) of the group. Using an EF cutoff of ≤40% versus >40%, the model (using 4 features) had an area under the receiver operating curve (AUROC) of 0.955, sensitivity of 0.952, specificity of 0.958, and accuracy of 0.956. The mean age of the SV cohort was 65.5 (SD 12.7) years, with female patients comprising 34% (38/65) of the group. Using a clinically relevant SV cutoff of 50 mL, the model (using 3 features) had an AUROC of 0.922, sensitivity of 1.000, specificity of 0.844, and accuracy of 0.923. Acoustics frequencies associated with SV were observed to be higher than those associated with EF and, therefore, were less likely to pass through the tissue without distortion. Conclusions: This work describes the use of mobile phone auscultation recordings obtained with unaltered cellular microphones. The analysis reproduced the estimates of EF and SV with impressive accuracy. This technology will be further developed into a mobile app that could bring screening and monitoring of HF to several clinical settings, such as home or telehealth, rural, remote, and underserved areas across the globe. This would bring high-quality diagnostic methods to patients with HF using equipment they already own and in situations where no other diagnostic and monitoring options exist.

Purpose This study aimed to evaluate polysomnographic (PSG) outcomes of tonsillectomy and adenoidectomy (T&A) in children with Down Syndrome (DS) and OSA, and the difference in PSG outcomes of T&A between children with DS and age- and gender-matched normally developing (non-DS) children. Methods This was a single center retrospective study that included children with DS and OSA who underwent T&A and had pre-operative and post-operative PSG. The baseline and the differences of pre- and post-operative PSG variables were compared with those of an age- and gender-matched group of non-DS children. Results Forty-eight children with DS were included in the study; the median age was 5 years (IQR 5.5), 58% were males, and the median BMI was 18.2 (IQR 3.3). There was statistically significant improvement noted between pre-operative and post-operative OAHI 17.9 ± 26.7 vs. 9.1 ± 13.6 (p = 0.022) and non-REM AHI 13.9 ± 19.7 vs. 6.9 ± 14.2 (p = 0.027). However, there were no significant changes in sleep architecture, oxygen desaturation nadir, or CO2 levels. 54.2% of the DS children continued to have moderate to severe OSA after T&A. Univariate logistic regression showed that for every 1% increase in oxygen desaturation nadir, the odds of having residual moderate or severe OSA decreased by 28% (p = 0.002) compared to the cured and mild OSA groups. There was no significant pre- and post-operative differences in PSG variables noted in 16 children with DS compared to age- and gender-matched non-DS children. Conclusion Despite the overall significant reduction of OAHI in children with DS and OSA who underwent T&A, there was a residual moderate to severe OSA in about half of the included children. Oxygen desaturation nadir was a predicting factor for persistent moderate to severe OSA. There were no significant pre- and post-operative PSG differences in between DS children compared to non-DS children.