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    • cyclin dependent kinase The dosage of hypocretin in

    2018-10-26

    The dosage of hypocretin-1 in the cerebrospinal fluid (CSF) can be useful in complex cases or where there is difficulty in interpreting the results of exams [14]. Its use is not widespread, since it cyclin dependent kinase is hardly available and also because it needs an invasive technique. The therapeutic approach includes both behavioral and pharmacological therapy in order to control the symptoms. Some drugs used in adulthood are not yet approved for children (e.g. modafinil) or are poorly studied in children (e.g. sodium oxybate and immunosuppressant treatment) [2]. The therapeutic monitoring is usually based on clinic symptoms; however, some centers use the Maintenance of Wakefulness Test [20].
    Material and methods A retrospective and descriptive analysis of the files of children and teenagers with narcolepsy, diagnosed and followed between 1994 and 2013 at a tertiary pediatric hospital, was performed. Clinical data and all complementary exams were collected. All the children underwent PSG and MSLT. For sleep stages and respiratory classification, we used the Rechtschaffen and Kales rules until 2007, and then after, the American Academy of Sleep Medicine׳s classification was used. In the PSG, the leg movement index referred to the number of leg movements, regardless of their characteristics, per hour of sleep. MSLT was considered compatible with narcolepsy when the average sleep latency was less than 8min and when at least 2 SOREMPs were present during the nap time. Hypocretin level below 110pg/ml was considered a low value [21].
    Results The sample consisted of 8 Caucasian children (5 boys). The first symptoms occurred between the ages of 6 and 10 years (median – 8 years). The diagnostic delay (period of time between the onset of symptoms and the diagnostic confirmation by complementary exams) ranged from 4 to 24 months (median – 14 months) (Table 1). All children performed PSG with MSLT shortly after diagnostic suspicion (between 7 and 11 years old) – Table 2. In PSG, sleep efficiency below 80% was recorded in 5 patients and the microarousal index ranged between 2.6 and 6.7. Regarding the respiratory parameters, one of the 8 patients snored, the apnea–hypopnea index was always less than 1 and there was no desaturation. The MSLT showed average sleep latencies between 0.1 and 8.5min, average REM sleep latencies between 1.37 and 4.83min and 2–4 SOREMPs. The first MSLT was compatible with the diagnosis of narcolepsy in 6 of the 8 cases, while a second test was necessary in the other 2. During the initial MSLTs, these 2 children only slept one nap; one did not have REM sleep and the other had only one SOREMP. The allele HLA DQB1*06:02 was present in all cases and it was associated with the concomitant presence of allele HLA DRB1*15 in 7 cases. In the 6 cyclin dependent kinase most recent cases, we determined the anti-streptolysin-O levels and a high level (324UI/ml) was present in only one of them. In one case, due to the diagnostic complexity, hypocretin-1 evaluation in CSF was performed, and its value was low (70pg/ml).
    Discussion The analyzed group of children presents several similarities with the data that have been published in the literature [10,17]. The first symptom in all children was EDS. The reduced initial presence of cataplexy, hallucinations and sleep paralysis may be due to the children׳s difficulty in reporting information, as described by other authors [14]. The diagnosis delay ranged from 4 to 24 months with a median of 14 months, which represents a lower value than the ones reported by other authors [10,17]. This may be explained by the awareness of the local medical community for sleep disturbances due to the presence of a children׳s hospital specialized in sleep disorders in the region. In one quarter of the patients there were 1st and 2nd degree family members with EDS, and although no clear diagnosis was available, there was a case with enough severity to have a fatal outcome while driving. The familial clustering has already been described, with about 8–10% of the patients referring the existence of a relative with narcolepsy/cataplexy or with EDS [3]. First degree family members have a risk of 0.9–2.3% for disease, which, albeit low, represents a 40 times higher risk in comparison with the general population [22,23].