Polysomnographic findings in children with 22q deletion & duplication syndrome: relationship to genetic diagnosis, parent-reported symptoms, and calcium levels.

PURPOSE: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. In the current study, we assessed the relationship between parent-reported symptoms of obstructive sleep apnea (OSA) and polysomnographic (PSG) results in patients with 22q11.2DS. Additionally, we explored the relationships between genetic diagnosis, serum calcium and ferritin levels, and PSG results. METHODS: Retrospective chart review was completed for patients enrolled in our 22q Center's registry from 2015-2021. Data extracted included: patient characteristics, parent-reported sleep symptoms from the Childhood Sleep Habits Questionnaire (CSHQ), serum calcium and ferritin levels, and results from formal PSG. RESULTS: Overall, n = 89 encounters (60 unique patients) with PSG data demonstrated that there were no differences in OSA between those with deletion vs duplication, but PLMD was more common in those with deletion (35% vs 7%, p = 0.032). In a subset of n = 24 encounters with PSG and survey data in proximity, there were no significant associations between the CSHQ sleep-disordered breathing subscale and OSA presence or severity (p = 0.842). Likewise, we found no significant associations between the individual symptoms of OSA and PSG results (all p > 0.5). In those patients with available calcium (n = 44) and ferritin (n = 17) levels, we found a significant negative correlation between serum calcium and PLMS (r = -0.446, p = 0.002), but not ferritin (r = -0.067, p = 0.797) levels. CONCLUSIONS: Parent-reported symptoms do not predict the presence or severity of OSA in children with 22q11.2DS. There was a negative correlation between serum calcium, but not ferritin, and PLMS on PSG.

Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review.

OBJECTIVE: People with 22q11.2 deletion syndrome (22q11DS) can present with a wide variety of findings. Various airway anomalies have been described intermittently within this syndrome, but this feature has not been extensively investigated. Increased provider awareness of these findings may help guide clinical decision-making and improve overall patient outcomes. The objectives of this review are to identify the types of airway anomalies in 22q11DS and the prevalence of airway anomalies within symptomatic individuals. METHODS: PubMed/MEDLINE, Cochrane Library, and EMBASE databases were searched in February 2022 for all available articles. Search terms included those that described 22q11DS or one of its synonymous conditions AND those that described airway anatomy and anomalies. The term airway anomaly was defined as any structural aberration in the conductive airway from the oral or nasal vestibule region to the mainstem bronchus. Studies were screened by two authors. A review of references was conducted. Eligible manuscripts underwent full-text review for quality appraisal and data extraction. RESULTS: From a total of 909 unique manuscripts, 58 studies were selected, describing 328 people. The prevalence of airway anomaly diagnosis within symptomatic individuals ranged from 14% to 74%. Twenty-two unique airway anomalies were described. Laryngeal web was the most frequently described anomaly, followed by airway malacia and subglottic stenosis. Laryngeal web was 40% sensitive for suggesting a diagnosis of 22q11DS. Among affected individuals, as many as 46% had multiple concomitant airway anomalies. Aside from respiratory symptoms, other features that prompted airway evaluation included difficult intubation or failed extubation. CONCLUSION: The findings within this review support the notion that a wide variety of airway anomalies may be seen in people with 22q11DS and that these findings have been discovered frequently in those with airway symptoms. Providers should maintain a low threshold to perform an airway examination in those with 22q11DS, especially when airway symptoms are present.

Structural and Anatomic Laryngeal Measurements in Geriatric Population Using MRI.

OBJECTIVE: The study aims to evaluate the changes in volume and dimensions of the thyroarytenoid (TA) muscle in the elderly using magnetic resonance imaging (MRI). STUDY DESIGN: This is a retrospective study. METHODS: The neck MRIs of 40 adult patients aged less than 65 years old and 40 patients aged 65 years old and above were compared. Demographic data included age and gender. The length, width, and height of the TA muscle as well as its volume were measured on each side, right and left, in both groups. RESULTS: The differences in the mean length, width, and height of TA muscle were not statistically significant between the two groups on either right or left side. Similarly, there was no statistically significant difference in the mean volume of the TA muscles between the two groups on either side as well. The mean volume of the right and left TA muscles in those aged less than 65 years was 0.65 ± 0.26 mL and 0.69 ± 0.30 mL, respectively. The mean volume of the right and left TA muscles in the elderly group was 0.72 ± 0.31 mL and 0.72 ± 0.32 mL, respectively. CONCLUSION: Using MRI, there are no dimensional or volumetric changes in TA muscles with aging.

Effect of sperm storage and selection techniques on sperm parameters.

Sperm cryopreservation preserves the fertility of cancer patients undergoing chemotherapy, ensures sperm are available at the time of oocyte retrieval in assisted reproductive technology (ART) procedures and avoids the need for repeated sperm extraction surgeries in azoospermic patients. Conventional methods of cryopreservation involve storage in liquid nitrogen (LN2), which causes a significant decline in sperm parameters such as motility and viability and results in DNA damage. Newer methods of sperm cryopreservation such as the LN2 vapor method, vitrification, and experimental methods such as lyophilization, have significant advantages over the conventional methods in terms of cost effectiveness and ease of use. Density gradient centrifugation (DGC), swim up, and magnetic assisted cell sorting (MACS) can be used prior to or post-cryopreservation to improve post-thaw sperm quality. Cryopreservation in special carriers such as cryoloops and empty zona prevents the loss of small numbers of sperm during cryopreservation. This article will discuss these sperm preservation and selection techniques.

Power of proteomics in linking oxidative stress and female infertility.

Endometriosis, PCOS, and unexplained infertility are currently the most common diseases rendering large numbers of women infertile worldwide. Oxidative stress, due to its deleterious effects on proteins and nucleic acids, is postulated to be the one of the important mechanistic pathways in differential expression of proteins and in these diseases. The emerging field of proteomics has allowed identification of proteins involved in cell cycle, as antioxidants, extracellular matrix (ECM), cytoskeleton, and their linkage to oxidative stress in female infertility related diseases. The aim of this paper is to assess the association of oxidative stress and protein expression in the reproductive microenvironments such as endometrial fluid, peritoneal fluid, and follicular fluid, as well as reproductive tissues and serum. The review also highlights the literature that proposes the use of the fertility related proteins as potential biomarkers for noninvasive and early diagnosis of the aforementioned diseases rather than utilizing the more invasive methods used currently. The review will highlight the power of proteomic profiles identified in infertility related disease conditions and their linkage with underlying oxidative stress. The power of proteomics will be reviewed with regard to eliciting molecular mechanisms for early detection and management of these infertility related conditions.