Clinical Sleep-Related Breathing Disorders

Sleep-related breathing disorders are categorized into obstructive sleep apnea syndromes, central sleep apnea syndrome, and sleep-related hypoventilation or hypoxic syndromes. These disorders can occur in adults and children. Clinical characteristics, diagnosis, and treatment are discussed in this chapter. Sleep apnea occurs when recurrent complete (apnea) or nearly complete (hypopnea) cessation of airflow develops, accompanied by preservation of the respiratory drive manifested as persistent respiratory muscle effort. Apnea is defined as the cessation of airflow for more than 10 seconds, using a valid measure of airflow. Hypopnea is an airflow reduction of at least 30% from baseline that lasts at least 10 seconds and is accompanied by an oxygen desaturation of 4% or more.

Az achondroplasia a fogszabályozás szemszögéből

Összefoglaló. Az achondroplasia kialakulásáért az FGFR3-gén mutációja tehető felelőssé, mely a porc növekedési lemezében található chondrocyták érésében okoz zavart. Az esetbemutatásban szereplő lánygyermeknél a születést követő első hónapban a klinikai, laboratóriumi és röntgenvizsgálatok alapján achondroplasia igazolódott. A klinikai tünetek közé tartoznak a rövid végtagok – különösen a proximalis szegmensben –, a macrocephalia, a hypotonia és a horkolás. Szembetűnő a középarc hypoplasiája. A középfül diszfunkciója tovább súlyosbítja a kórképet, sok esetben megfigyelhető a hallás nagyfokú csökkenése, illetve kezelés hiányában akár a hallás elvesztése. A közlemény részletesen bemutatja az obstruktív alvási apnoe szindróma diagnózisrendszerét és kezelési alternatíváit, hangsúlyozva az orthodontiai szempontokat. A fül-orr-gégészeti és a fogszabályozó terápiának köszönhetően, a diagnózistól számított harmadik évre, az alvási apnoe szindróma megszüntetésével a folyamatos pozitív nyomású lélegeztetést el lehetett hagyni. A horkolás és az alvási apnoe szindróma kezelése napjainkban egyre nagyobb hangsúlyt kap, melynek komplex kezelésében a fogszabályozás is jelentős lehet. A harmonikus együttműködés és teamkezelés betegünknél jelentős életminőség-javulást eredményezett. Orv Hetil. 2021; 162(17): 683–688. Summary. Development of achondroplasia is due to the mutation of FGFR3 gene, which disrupts the maturation of chondrocytes found in the growth plate. The diagnosis of the girl in the present case study was established based on clinical symptoms, laboratory tests and X-ray imaging in the first month following childbirth. Clinical symptoms include shorter limbs especially in the proximal segments, macrocephaly, hypotonia and snoring. Hypoplasia of the midface is apparent. Dysfunction of the middle ear further worsens the condition, in many cases severe hearing loss and, without treatment, even deafness can be observed. The publication describes the diagnostic criteria and therapeutic options of obstructive sleep apnea syndrome in detail, with an emphasis on the orthodontic aspects. A comprehensive combined three-year oto-laryngological and orthodontic treatment finally succeeded in controlling the sleep apnea syndrome and it was possible to discontinue the continuous positive airway pressure therapy by the end of the orthodontic therapy. Nowadays, even more alternative therapeutic approaches are available to treat snoring and sleep apnea syndromes, in which the role of orthodontics must not be neglected. Harmonic collaboration and team work treatment resulted in a significant improvement in the quality of life of our patient. Orv Hetil. 2021; 162(17): 683–688.

The Association between Obstructive Sleep Apnea and Allergic Rhinitis: Current Literature Review

: Sleep-disordered breathing (SDB) is now a significant health problem in today's culture. It ranges from a spectrum of abnormal conditions during sleep from the primary snorer to mild, moderate, or severe obstructive sleep apnea (OSA). SDB also comprises other conditions, such as sleep-related hypoventilation, sleep-related hypoxemia, and central sleep apnea syndromes. One of the components of the pathophysiology of OSA that remain unclear is the association of allergic rhinitis (AR) in the evolution of OSA. Several studies relate OSA and AR's co-existence in the common clinical practice, but its correlation was not clear. This review article aimed to review the relationship between OSA and AR in terms of the role of chemical mediators and pathophysiological and the effect of AR treatment in support of OSA. The symptoms of AR further accelerate the clinical progression to OSA development. Inflammatory mediators such as histamine, cysteinyl leukotrienes, and interleukins are found at a high level in AR, which can aggravate AR symptoms such as nasal obstruction, rhinorrhea, and itchiness, which can then lead to sleep disruption in OSA patients. In addition, OSA patients also have increased chemical mediators such as tumor necrosis factor, interleukin 6, and 1, which would activate the T helper 2 phenotypes that can aggravate AR symptoms. This vicious cycle can potentiate each other and worsen the condition. Few studies have shown that treatment of AR can improve OSA, especially the use of intranasal steroid and leukotriene receptor antagonists. A detailed evaluation of rhinitis symptoms should be made for those OSA patients so that they can benefit not only from the improvement of AR but also the good sleep quality.

0892 Sleep Abnormalities in Cornelia De Lange Syndrome

Introduction Cornelia de lange is an autosomal dominant disorder (when associated with NIPBL, RAD21, or SMC3 genes) with an incidence of 1:10,000 to 1:50,000 live births, patients affected are known to have a wide variety of sleep disorders, those range from insomnia and abnormal circadian cycle to sleep disordered breathing and hypoventilation. The exact etiology of increased risk of sleep-disordered breathing in patients affected is not fully understood. It is possible that some facial features in these patients expose them to a higher risk (micrognathia, high arched palate, and short neck). We wanted to analyze the sleep related problems in CDLS. Methods We included 3 patients with the disorder, age range from 15 months to 16 years old. All patients met criteria for CDLS diagnosis, all had intellectual disability and behavioral associated symptoms. The somnology evaluation included questionnaires of diurnal behavior and sleep focused logs. We performed nocturnal polysomnography in only 2 patients due to inability to tolerate the test in one case. Results Sleep clinical information was abnormal in all the cases. Overnight behavioral video evaluation was done. The behavioral abnormalities were evident in all subjects and severe in one. Overnight polysomnography demonstrated a moderate to severe degree of OSA, delayed sleep onset suggestive of insomnia, sleep-wake transition disorder with elevated WASO time, and arousal disorder with elevated spontaneous arousal index. It is of interest the finding of sleep related hypoxemia with limited evidence of obstructive component in one patient. Conclusion The abnormalities in sleep are frequent in CDLS, there are wide and present in the sleep architecture and the sleep ventilation, sleep apnea syndromes are frequent but are not the only major sleep-related abnormalities. When CDLS is caused by mutations in the HDAC8 or SMC1A gene, the condition has an X-linked dominant pattern inheritance. Most cases result from new mutations in the HDAC8 or SMC1A gene and occur in people with no history of the condition in their family, likely our cases are related to this mode of transmission and potential different patters of sleep disruption are dependent on different genes involved. Support None