A new technique for neonatal Jeune syndrome: External thoracic expansion

Jeune syndrome is a rare form of skeletal dysplasia characterized by a narrow, bell-shaped chest (thoracic cage), and typical phalangeal and pelvic bone deformities. Chest expansion is impaired by the short, horizontally positioned ribs, resulting in alveolar hypoventilation and eventually neonatal-infantile death in most cases. External distraction with sternoplasty is a new technique for the treatment of Jeune syndrome, which was firstly used by our team on a newborn by placing a sliding finger fixator which was designed for ulnar lengthening. We believe that this approach can be life-saving in neonates with improved and widespread usage.

Hypercapnia in COPD Patients Undergoing Endobronchial Ultrasound under Local Anaesthesia and Analgosedation: A Prospective Controlled Study Using Continuous Transcutaneous Capnometry

<b><i>Background:</i></b> Flexible bronchoscopy (FB) in analgosedation causes alveolar hypoventilation and hypercapnia, the more so if patients suffer from COPD. Nonetheless, neither is capnometry part of standard monitoring nor is there evidence on how long patients should be monitored after sedation. <b><i>Objectives:</i></b> We investigated the impact of COPD on hypercapnia during FB with endobronchial ultrasound (EBUS) in sedation and how the periprocedural monitoring should be adapted. <b><i>Methods:</i></b> Two cohorts of consecutive patients – with advanced and without COPD – with the indication for FB with EBUS-guided transbronchial needle aspiration in analgosedation received continuous transcutaneous capnometry (p_tcCO₂) before, during, and for 60 min after the sedation with midazolam and alfentanil. <b><i>Main Results:</i></b> Forty-six patients with advanced COPD and 44 without COPD were included. The mean examination time was 26 ± 9 min. Patients with advanced COPD had a higher peak p_tcCO₂ (53.7 ± 7.1 vs. 46.8 ± 4.8 mm Hg, <i>p</i> &#x3c; 0.001) and mean p_tcCO₂ (49.5 ± 6.8 vs. 44.0 ± 4.4 mm Hg, <i>p</i> &#x3c; 0.001). Thirty-six percent of all patients reached the maximum hypercapnia after FB in the recovery room (8 ± 11 min). Patients with COPD needed more time to recover to normocapnia (22 ± 24 vs. 7 ± 11 min, <i>p</i> &#x3c; 0.001). They needed a nasopharyngeal tube more often (28 vs. 11%, <i>p</i> &#x3c; 0.001). All patients recovered from hypercapnia within 60 min after FB. No intermittent ventilation manoeuvres were needed. <b><i>Conclusion:</i></b> A relevant proportion of patients reached their peak-pCO₂ after the end of intervention. We recommend using capnometry at least for patients with known COPD. Flexible EBUS in analgosedation can be safely performed in patients with advanced COPD. For patients with advanced COPD, a postprocedural observation time of 60 min was sufficient.

Infectious aetiologies of severe acute chest syndrome in sickle-cell adult patients, combining conventional microbiological tests and respiratory multiplex PCR

Acute chest syndrome (ACS) is the most serious complication of sickle cell disease. The pathophysiology of ACS may involve lower respiratory tract infection (LRTI), alveolar hypoventilation and atelectasis, bone infarcts-driven fat embolism, and in situ pulmonary artery thrombosis. One of the most challenging issues for the physicians is to diagnose LRTI as the cause of ACS. The use of a respiratory multiplex PCR (mPCR) for the diagnosis of LRTI has not been assessed in sickle-cell adult patients with ACS. To describe the spectrum of infectious aetiologies of severe ACS, using a diagnostic approach combining conventional tests and mPCR. A non-interventional monocenter prospective study involving all the consecutive sickle-cell adult patients with ACS admitted to the intensive care unit (ICU). Microbiological investigation included conventional tests and a nasopharyngeal swab for mPCR. Altogether, 36 patients were enrolled, of whom 30 (83%) had complete microbiological investigations. A bacterial microorganism, mostly Staphylococcus aureus (n = 8), was identified in 11 patients. There was no pneumonia-associated intracellular bacterial pathogen. A respiratory virus was identified in six patients. Using both conventional tests and nasopharyngeal mPCR, a microbiological documentation was obtained in half of adult ACS patients admitted to the ICU. Pyogenic bacteria, especially S. aureus, predominated.

Hypercapnia: An Aggravating Factor in Asthma

Asthma is a common chronic respiratory disorder with relatively good outcomes in the majority of patients with appropriate maintenance therapy. However, in a small minority, patients can experience severe asthma with respiratory failure and hypercapnia, necessitating intensive care unit admission. Hypercapnia occurs due to alveolar hypoventilation and insufficient removal of carbon dioxide (CO2) from the blood. Although mild hypercapnia is generally well tolerated in patients with asthma, there is accumulating evidence that elevated levels of CO2 can act as a gaso-signaling molecule, triggering deleterious effects in various organs such as the lung, skeletal muscles and the innate immune system. Here, we review recent advances on pathophysiological response to hypercapnia and discuss potential detrimental effects of hypercapnia in patients with asthma.

Leptin receptor expression in the dorsomedial hypothalamus stimulates breathing during NREM sleep in db/db mice

ABSTRACTObesity can lead to recurrent upper airway obstruction (obstructive sleep apnea, OSA) during sleep as well as alveolar hypoventilation. We have previously shown that leptin stimulates breathing and treats OSA in leptin-deficient ob/ob mice and leptin-resistant diet-induced obese mice. Our previous data also suggest that leptin’s respiratory effects may occur in the dorsomedial hypothalamus (DMH). We selectively expressed leptin receptor LepRb in the DMH neurons of obese LepRb-deficient db/db mice (LepRb-DMH mice), which hypoventilate at baseline, and showed that intracerebroventricular injection of leptin in these animals increased inspiratory flow, tidal volume and minute ventilation during NREM sleep without any effect on the quality of NREM sleep or CO2 production. Leptin had no effect on upper airway obstruction in LepRb-DMH animals. We conclude that leptin stimulates breathing and treats obesity related hypoventilation acting on LepRb-positive neurons in the DMH.

ROHHAD syndrome – A still unrecognized cause of childhood obesity: report of three cases

ObjectivesRapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare, potentially fatal, pediatric syndrome.Case presentationsWe describe three cases of ROHHAD-syndrome in Greece. The main and earliest symptom was the excessive and rapid weight gain at 5, 2, and 3 years of age. Years after the onset of obesity, the patients developed hypothalamic dysfunction with various endocrinological abnormalities (at 9, 8, and 6.8 years, respectively), autonomic dysregulation and finally, alveolar hypoventilation (at 14.6, 8, and 7.8 years, respectively), leading to the diagnosis of ROHHAD-syndrome.ConclusionsThe rarity of the syndrome, the variable symptoms’ presentation, and the lack of specific diagnostic tests could explain why no previous cases have been reported from our country. The rapid onset of obesity was underestimated, and the patients were misdiagnosed with other more common obesity syndromes. Therefore, we propose a questionnaire to help physicians identify patients with ROHHAD-syndrome.

Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. Body This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research. Conclusion Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.