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Purpose: To investigate the effects of repeated-sprint training with voluntary hypoventilation at low (RSH-VHL) and high (RS-VHH) lung volume on repeated-sprint ability (RSA) in female athletes. Methods: Over a 6-week period, 24 female soccer players completed 12 sessions of repeated 30-m running sprints with end-expiratory breath holding (RSH-VHL, n = 8), end-inspiratory breath holding (RS-VHH, n = 8), or unrestricted breathing (RS-URB, n = 8). Before and after training, a running RSA test consisting of performing 30-m all-out sprints until exhaustion was implemented. Results: From before to after training, the number of sprints completed during the RSA test was increased in both RSH-VHL (19.3 [0.9] vs 22.6 [0.9]; P <.01) and RS-VHH (19.3 [1.5] vs 20.5 [1.7]; P <.01) but not in RS-URB (19.4 [1.3] vs 19.5 [1.7]; P =.67). The mean velocity and the percentage decrement score calculated over sprints 1 to 17 were, respectively, higher (82.2% [1.8%] vs 84.6% [2.1%] of maximal velocity) and lower (23.7% [3.1%] vs 19.4% [3.2%]) in RSH-VHL (P <.01), whereas they remained unchanged in RS-VHH and RS-URB. The mean arterial oxygen saturation recorded during training at the end of the sprints was lower in RSH-VHL (92.1% [0.4%]) than in RS-VHH (97.3% [0.1%]) and RS-URB (97.8% [0.1%]). Conclusions: This study shows that female athletes can benefit from the RSH-VHL intervention to improve RSA. The performance gains may have been limited by the short sprinting distance with end-expiratory breath holding, which provoked only moderate hypoxemia. The increase in the number of sprints in RS-VHH seems to show that factors other than hypoxia may have played a role in RSA improvement. [ABSTRACT FROM AUTHOR]

Cardiac arrest (CA) remains a major cause of death despite advancements in cardiopulmonary resuscitation (CPR), post-resuscitation care, and international efforts to develop evidence-based guidelines. Effectively managing ventilation and oxygenation during and after CPR is vital for patient survival and neurological outcomes, yet it remains a challenging task. This review examines current strategies for ventilation and oxygenation during and after CPR, focusing on evidence-based guidelines, the balance between ventilation effectiveness and risks, and proposed methods for monitoring ventilation quality. It emphasizes the need to provide adequate ventilation and oxygenation during and after CPR while avoiding hyperventilation and hypoventilation, which can negatively impact resuscitation and post-CA outcomes. The review also explores mechanical ventilation as an alternative to manual methods and the use of feedback devices. The impact of post-CA ventilation and oxygenation on patient outcomes and recommended management strategies are discussed. Finally, the review highlights current gaps in the literature and the need for more well-designed large clinical studies, such as the impact of different ventilation variables (tidal volume and breathing frequency) on the return of spontaneous circulation and long-term outcomes. [ABSTRACT FROM AUTHOR]

Objective: Unusual clinical course Background: Obesity-hypoventilation syndrome (OHS), also known as Pickwickian syndrome, is a respiratory consequence of morbid obesity, usually treated with non-invasive positive airway pressure (PAP) therapies and weight loss. This study reports a 53-year-old woman with a body mass index of 49 kg/m2 who experienced acute hypercapnic respiratory failure due to OHS. Her treatment involved mechanical ventilation, home oxygen therapy, and long-term weight loss of >30 kg. Case Report: A 53-year-old woman (109 kg) presented with acute hypercapnic respiratory failure due to OHS, which improved with mechanical ventilation and diuretics. After discharge from the hospital, she was treated with nocturnal non-invasive positive-pressure ventilation (NPPV) and home oxygen therapy. Over a 5-year period, following loss of >30 kg, she was re-evaluated for the discontinuation of NPPV and oxygen therapy. She was evaluated with various NPPV settings and oxygen doses, monitored by transcutaneous pressure of carbon dioxide (PtcCO2). On NPPV, PtcCO2 levels ±55 mmHg were maintained within 10 min, indicating that the durations of PtcCO2 ³50 mmHg were too prolonged for her to be switched to continuous PAP therapy. Nonetheless, oxygen therapy was discontinued because the duration of peripheral blood oxygen saturation <90% was brief. Conclusions: For patients with OHS treated with NPPV and oxygen therapy, weight loss alone may not improve hypoventilation and wean the patient from NPPV. Besides obesity, various factors influence respiratory compromise in OHS; hence, a comprehensive assessment of hypoventilation, including PtcCO2 monitoring, is essential to determine whether NPPV withdrawal is possible after body weight loss. [ABSTRACT FROM AUTHOR]

Objectives Methods Results Conclusion Propofol is commonly used for endoscopic sedation. However, it can induce adverse hemodynamic effects. Remimazolam is known to have a fast onset and short duration comparable to that of propofol, but with fewer effects on hemodynamics. We assessed the Oxygen Reserve Index to verify whether a sedative dose of remimazolam would better preserve oxygenation in the mild hyperoxic range than propofol in sedated patients undergoing diagnostic upper gastrointestinal endoscopy.Patients scheduled for diagnostic upper gastrointestinal endoscopy were enrolled. Patients were randomly assigned to either the remimazolam or propofol groups and received 0.1 mg/kg remimazolam or 0.5 mg/kg propofol, respectively. Bolus injections of either 0.05 mg/kg remimazolam or 0.25 mg/kg propofol were added if required. The primary outcome was the prevalence of oxygen reserve depletion, defined as the Oxygen Reserve Index decreasing to 0.00, and hypoxia defined as peripheral oxygen saturation falling to <94%.Among 69 patients, the incidence of oxygen reserve depletion was significantly higher in the propofol group (65.7% vs. 38.2%, P = 0.022). Hypoxia was frequently observed in the propofol group, whereas none was observed in the remimazolam group (11.4% vs. 0%, P = 0.042). Additional sedative injections were frequently required to complete endoscopy in the propofol group. None of the patients in the remimazolam group required airway interventions. Nausea was frequent in the propofol group in the recovery room.Our results indicate that remimazolam is a safe and useful sedative for upper gastrointestinal endoscopy. [ABSTRACT FROM AUTHOR]

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare syndrome presenting in early childhood associated with a high risk of mortality between 50 and 60%. It is characterised by rapid, early onset of obesity between 1.5–7 years, along with central hypoventilation and hypothalamic dysfunction, such as central hypothyroidism, hyperprolactinemia, disorders of sodium and water balance, growth hormone deficiency, adrenocortical insufficiency, or disorders of puberty and features of autonomic dysregulation. Up to half of cases have neural crest tumours, most commonly ganglioneuromas or ganglioneuroblastomas. The incidence of ROHHAD syndrome in any population is unknown. Currently, there is no specific diagnostic or genetic biomarker for ROHHAD, and diagnosis is based on clinical signs and symptoms, which is often challenging, and consequently may be delayed or unrecognised. Early diagnosis is important, as without intervention, ROHHAD is associated with high morbidity and mortality. Aetiology remains unclear; an autoimmune origin has been postulated, with immunosuppressive agents being used with variable benefit. With no cure, multidisciplinary management is largely supportive. Therefore, there are many unanswered questions in ROHHAD syndrome. In this review article, we outline the challenges posed by ROHHAD syndrome, including aetiology, genetics, diagnosis, screening, management, and prognosis. We present research priorities to tackle these issues to improve outcomes. [ABSTRACT FROM AUTHOR]

Background: Synpolydactyly (SPD) is mainly caused by mutations of polyalanine expansion (PAE) in the transcription factor gene HOXD13 and the involved cell types and signal pathway are still not clear possible pathways and single-cell expression characteristics of limb bud in HOXD13 PAE mice was analyzed in this study. Method: We investigated a previous study of a mouse model with SPD and conducted weighted gene co-expression network analysis (WGCNA) using a single-cell RNA sequencing dataset from limb bud cells of SPD mouse model of HOXD13 + 7A heterozygote. Results: Analysis of WGCNA revealed that synpolydactyly-associated Hoxd13 PAEs alter the immune response and osteoclast differentiation, and enhance DNA replication. Bmp4, Hand2, Hoxd12, Lnp, Prrx1, Gmnn, and Cdc6 were found to play potentially key roles in synpolydactyly. Conclusions: These findings evaluated the main genes related to SPD with PAE mutations in HOXD13 and advance our understanding of human limb development. [ABSTRACT FROM AUTHOR]

Objective: Rare coexistence of disease or pathology. Background: Obesity hypoventilation syndrome (OHS) is characterized by hypercapnia in obese patients, with acute hypercapnic respiratory failure often worsened by various conditions. Managing super-super obese patients presents complex challenges in critical care. Our case report details the successful treatment of acute respiratory failure in a patient with a body mass index (BMI) over 80 kg/m², highlighting the importance of comprehensive, multidisciplinary care in the Intensive Care Init (ICU). Case Report: A 39-year-old man with a BMI of 81.1 kg/m² presented to our emergency department with respiratory distress, altered consciousness, and an inability to move independently. Arterial blood gas analysis revealed severe hypercapnia and hypoxemia, indicating decompensated OHS. Laboratory tests and computed tomography scans suggested his condition was exacerbated by pneumonia and congestive heart failure. The patient was managed in the ICU with endotracheal intubation, mechanical ventilation, and esophageal pressure monitoring. In addition to antibiotics, diuretics were used to manage fluid balance. His care included multidisciplinary support with nutritional management and active physiotherapy. After 15 days, he was weaned from the ventilator and discharged from the ICU on day 20, continuing rehabilitation until he was discharged home on day 60. Conclusions: This case report describes the successful treatment of acute hypercapnic respiratory failure from decompensated OHS in a super-super obese patient. Addressing the underlying conditions and tailoring clinical practices to the patient's specific needs, especially regarding ventilatory support, fluid balance, and nutrition, were crucial. A collaborative multidisciplinary approach was essential for improving outcomes. [ABSTRACT FROM AUTHOR]

BACKGROUND: The first aim of this study was to evaluate the capacity of electrical impedance tomography (EIT) to identify the effect of PEEP on regional ventilation distribution and the regional risk of collapse, overdistention, hypoventilation, and pendelluft in mechanically ventilated patients. The second aim was to evaluate the feasibility of EIT for estimating airway opening pressure (AOP). METHODS: The EIT signal was recorded both during baseline cyclic ventilation and slow insufflation for one breath for 9 subjects with moderate-to-severe ARDS. From these data, the AOP and volumes insufflated to lung regions with or without the risk of either collapse, overdistention, hypoventilation, or pendelluft were assessed at 3 PEEP levels (5, 10, and 15 cm H2O). PEEP levels were compared by Friedman analysis of variance and the AOP measured by EIT evaluated using an F-test and the Bland and Altman method. RESULTS: The volume for which there was no specific risk significantly decreased at the highest PEEP from 55 ± 31% tidal volume (VT) at PEEP = or 82 ± 18% VT at PEEP 10 to 10 ± 30% VT at PEEP 15 (P = .038 between PEEP 5 vs PEEP 15; P = .01 between PEEP 10 vs PEEP 15). The volume associated with overdistention significantly increased with increasing PEEP, whereas that associated with atelec-trauma significantly decreased. Pendelluft significantly decreased with increasing PEEP: VT of 8.9 ± 18.6%, 3.6 ± 7.0%, and 3.2 ± 7.1% for PEEP 5, PEEP 10, and PEEP 15, respectively. The center of ventilation tended to increase in the dependent direction with higher PEEP. The AOPs assessed by EIT and from the pressure-volume curve were in good agreement (bias 0.48 cm H2O). CONCLUSIONS: Our results suggest that EIT could aid clinicians in making personalized and reasoned choices in setting the PEEP for subjects with ARDS. [ABSTRACT FROM AUTHOR]

Sleep disordered breathing (SDB) in children with neuromuscular disease (NMD) is more prevalent compared to the general population, and often manifests as sleep-related hypoventilation, sleep-related hypoxemia, obstructive sleep apnea, central sleep apnea, and/or disordered control of breathing. Other sleep problems include, sleep fragmentation, abnormal sleep architecture, and nocturnal seizures in certain neuromuscular diseases. The manifestation of sleep disordered breathing in children depends on the extent, type, and progression of neuromuscular weakness, and in some instances, may be the first sign of a neuromuscular weakness leading to diagnosis of an NMD. In-lab diagnostic polysomnography (PSG) remains the gold standard for the diagnosis of sleep disordered breathing in children, but poses several challenges, including access to many children with neuromuscular disease who are non-ambulatory. If SDB is untreated, it can result in significant morbidity and mortality. Hence, we aimed to perform a comprehensive review of the literature of SDB in children with NMD. This review includes pathophysiological changes during sleep, clinical evaluation, diagnosis, challenges in interpreting PSG data using American Academy of Sleep (AASM) diagnostic criteria, management of SDB, and suggests areas for future research.

Rett syndrome is a progressive neurological disorder associated to several comorbidities that contribute significantly to impair lung function. Respiratory morbidity represents a major cause of death in this population. Little is known about the benefit of noninvasive ventilation. We retrospectively enrolled patients with Rett syndrome who underwent a pneumological evaluation combined with a cardiorespiratory polygraphy and/or a pulse oximetry and capnography from 2012 to 2022. Medical records of 11 patients with Rett syndrome, mean age 13 ± 6 years, were evaluated. Most patients presented with both epilepsy and scoliosis. Five patients showed a pathologic sleep study and/or impaired night gas exchange: mean obstructive apnea-hypopnea index was 4 ± 3 events/hour; mean and minimal SpO 2 were, respectively, 93% ± 2% and 83% ± 6%, while mean and maximal transcutaneous carbon dioxide monitoring (PtcCO 2) were, respectively, 51 ± 5 mm Hg and 55 ± 8 mm Hg; and mean oxygen desaturation index was 13 ± 11 events/hour. These patients started noninvasive ventilation with clinical benefit and improved gas exchange mostly in terms of PtcCO 2 (mean PtcCO 2 51 ± 5 mm Hg before and 46 ± 6 mm Hg after noninvasive ventilation). Noninvasive ventilation is a suitable option for patients with Rett syndrome. [ABSTRACT FROM AUTHOR]

Background PRDM12 polyalanine tract expansions cause two different disorders: midfacial toddler excoriation syndrome (MiTES; itch with normal pain sensation associated with 18 homozygous alanines (18A); and congenital insensitivity to pain (CIP) with normal itch associated with 19 homozygous alanines (19A). Knowledge of the phenotype, genotype and disease mechanism of MiTES is incomplete. Why 18A vs. 19A PRDM12 can cause almost opposite phenotypes is unknown; no other polyalanine or polyglutamine tract expansion disease causes two such disparate phenotypes. Objectives To assess the genotype and phenotype of nine new, nine atypical and six previously reported patients diagnosed with MiTES. Methods Using cell lines with homozygous PR domain zinc finger protein 12 (PRDM12) containing 12 alanines (12A; normal), 18A (MiTES) and 19A (CIP), we examined PRDM12 aggregation and subcellular localization by image-separation confocal microscopy and subcellular fractionation Western blotting. Results MiTES presents in the first year of life; in all cases the condition regresses over the first decade, leaving scarring. The MiTES phenotype is highly distinctive. Features overlapping with PRDM12 CIP are rarely found. The genotype–phenotype study of the PRDM12 polyalanine tract shows that having 7–15 alanines is normal; 16–18 alanines is associated with MiTES; 19 alanines leads to CIP; and no clinically atypical cases of MiTES had a polyalanine tract expansion. PRDM12 aggregation and subcellular localization differed significantly between 18A and normal 12A cell lines and between 18A and 19A cell lines. MiTES is a new protein-aggregation disease. Conclusions We provide diagnostic criteria for MiTES and improved longitudinal data. MiTES and CIP are distinct phenotypes, despite their genotypes varying by a single alanine in the PRDM12 polyalanine tract. We found clear distinctions between the cellular phenotypes of normal, MiTES and CIP cells. We hypothesize that the developmental environment of the trigeminal ganglion is unique and critically sensitive to pre- and postnatal levels of PRDM12. [ABSTRACT FROM AUTHOR]

BACKGROUND: Sleep-disordered breathing (SDB) is frequent in patients with spinal-cord injury (SCI). However, SDB is frequently underdiagnosed due to limited access to diagnostic testing and knowledge about the condition. Moreover, SDB heterogeneity (sleep apnea, obstructive sleep apnea or central sleep apnea and nocturnal alveolar hypoventilation) implies complex evaluation of both nocturnal respiratory effort and hypercapnia. The aim of this study was to compare different screening strategies for an SDB diagnosis in patients with SCI. METHODS: This was a retrospective analysis of data from subjects with SCI followed up in a tertiary-care rehabilitation center with a specialized sleep unit. Subjective (questionnaires) and objective data (polysomnography [PSG]), ... extracted from the PSG, morning blood gases, and nocturnal transcutaneous CO2 (...) were collected and analyzed. A retrospective comparison of different strategies for SDB screening was carried out. Each strategy was compared (alone and in combination) with the standard of care for sleep apnea (PSG) and nocturnal alveolar hypoventilation (...) diagnosis. The performance of the usual cutoff and visual analysis was studied. RESULTS: Among 190 subjects with SCI who underwent a full night's PSG, data were available for 104 questionnaires and 162 with oximetry. Nocturnal alveolar hypoventilation was screened by ... and blood gases in 52 subjects with SCI. Questionnaires (the modified Screening for Obstructive Sleep Apnea in Tetraplegia and the Epworth Sleepiness Scale) had poor performance for identifying sleep apnea and did not identify nocturnal alveolar hypoventilation. ... (oxygen desaturation index score ≥ 13) and visual analysis of were good at identifying sleep apnea but insufficient to identify nocturnal alveolar hypoventilation. Diurnal blood gases were poor predictors of nocturnal alveolar hypoventilation. CONCLUSIONS: Questionnaires were of limited use in subjects with SCI, but the oxygen desaturation index derived from oximetry performed well for sleep apnea screening. Both diurnal blood gases and oximetry visual analysis were insufficient for nocturnal alveolar hypoventilation screening. ... monitoring should be mandatory and ideally combined with PSG given the heterogeneity of SDB phenotypes and associated sleep comorbidities of patients with SCI. [ABSTRACT FROM AUTHOR]

Background: Spinal anesthesia (SA) is a conventional method for proper nerve block in abdominopelvic and lower extremity surgeries. Compared to general anesthesia, SA has reduced perioperative complications significantly. The hyperbaric type of bupivacaine hydrochloride (HB) induces spinal anesthesia more efficiently with a lower incidence of life-threatening adverse reactions like Perioperative hemodynamic changes and respiratory depression. More investigations are needed to define the best dosage that provides adequate anesthesia while reducing adverse effects for each surgical procedure. Methods: This double-blinded randomized clinical trial compared the consequences of the (12.5mg,15mg,20mg) dosages of HB-bupivacaine in elective lower limb orthopedic surgery. Using block randomization, we allocated 60 participants to three (n = 20) study groups. Utilizing the same protocol of anesthesia induction, outcome variables assumed and measured as the incidence of the adverse effects (Hypotension, Anxiety, Bradycardia, Nausea and Vomiting(N/V), Hypoventilation, and Decreased o2 saturation), and the requirement for intervention to control the unwanted reaction. Addressing that, outcome variables were measured 10 times perioperatively. One-way ANOVA test, the chi2 test, or repeated measures ANOVA test with the Bonferroni adjustment were utilized as appropriate. Results: We found that the incidence of hypotension (P-value:0.02) and the N/V (P-value < 0.001) are associated with the HB-bupivacaine dosage. Contrary, our findings indicate that the incidence of apnea, bradycardia, and hypoventilation did not exhibit a significant dose-dependent pattern between the groups. Repeated measures analysis revealed significant intergroup differences for Herat rate, systolic, diastolic, and mean arterial pressure (group*time Pvalue < 0.001). The observed differences were more prominent 10–30 min after injection of HB-bupivacaine. The regression model claimed that gender (P-value:0.002) and drug dosage (P-value:0.03) significantly predict the incidence of adverse effects. Conclusion: Our results, suggest that the administration of the 12.5mg HB-bupivacaine provides adequate anesthesia while minimizing the risk of adverse events for lower limb orthopedic surgeries lasting up to 180 min. Trial registration: The study was registered at the Clinical Trial Registry Center (IRCT20160202026328N7), Registered on 2022.01.10. [ABSTRACT FROM AUTHOR]