Saliva-based Proteinase K method: A rapid and reliable diagnostic tool for the detection of SARS-COV-2 in children.

Early and accurate detection of viruses in children might help prevent transmission and severe diseases. In this study, the severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) detection in children was evaluated using saliva specimens with a Proteinase K (PTK)-based RNA preparation, as saliva collection is a simple and noninvasive procedure, even in young children, with fewer concerns about sample contamination. The saliva-based PTK and the conventional paired nasopharyngeal aspiration (NPA)-based detection methods were compared between COVID-19-positive and -negative children. In addition, the detection rate for SARS-COV-2 and the difference between admission and discharge by the saliva-based PTK method was tested in COVID-19 patients. The diagnostic accuracy of the saliva-based PTK method was 98.8% compared to NP swab-based reverse transcriptase polymerase chain reaction. Saliva samples showed high sensitivity (94.1%) and specificity (100%) when using the PTK method. Furthermore, the saliva-based PTK method significantly reduced the test processing time by 2 h. Notably, Ct values at discharge increased in saliva samples compared with those at admission, which might indicate patients' clinical conditions or virus activity. In conclusion, the saliva-based PTK implemented in this study streamlines RNA extraction, making the process faster, safer, and more cost-effective, demonstrating that this method is a rapid and reliable diagnostic tool for SARS-CoV-2 detection in children.

Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita.

X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our patient first presented with adrenal crisis at the age of 2 months, which was managed with glucocorticoids and mineralocorticoids. At the age of 17 years, testicular volumes of 5 mL each and a stretched penile length of 4 cm were noted. A combined pituitary function test showed a peak luteinizing hormone level of 2.68 mIU/mL, testosterone 13.5 ng/dL, confirming hypogonadotropic hypogonadism. After whole-exome sequencing, a new variant of DAX-1, c.881T>C (p.Leu294Pro), was found. He was diagnosed with X-linked adrenal hypoplasia congenita and then treated with human choriogonadotropin for the induction of spermatogenesis as well as with steroid replacement therapy.

Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation.

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.

The Effects of Shoulder Rotation on the Acoustic Window for Thoracic Paramedian Epidural Approach in the Lateral Decubitus Position.

BACKGROUND AND OBJECTIVES: The aim of this study was to examine whether shoulder rotation increases the length of the posterior longitudinal ligament (PLL) in the lateral decubitus position. METHODS: Thirty-four adult male volunteers were placed in the right or left lateral decubitus and flexion position on a horizontal operating table. Thoracic spinal ultrasonography was performed using the paramedian oblique sagittal plane to obtain the optimal ultrasound view for the PLL on the dependent side. The lengths of the PLL were measured at the T6/7 and T9/10 interspaces before and after ipsilateral 30-degree shoulder rotation. RESULTS: In the right lateral decubitus position, the ipsilateral shoulder rotation increased the mean (SD) of the PLL from 7.4 (2.8) to 8.4 (2.6) mm (P = 0.006) at the T6/7 level and from 8.4 (2.9) to 10.6 (2.8) mm (P < 0.0001) at the T9/10 level. Similarly, in the left lateral decubitus position, the ipsilateral shoulder rotation increased the mean (SD) of the PLL from 8.0 (2.6) to 9.1 (2.6) mm (P = 0.001) at the T6/7 level and from 9.3 (2.8) to 11.8 (3.1) mm (P < 0.0001) at the T9/10 level. CONCLUSIONS: Shoulder rotation significantly increased the dimension of the acoustic target window for paramedian thoracic epidural access in the lateral decubitus position at both T6/7 and T9/10 levels. Further clinical studies are needed to investigate the effect of shoulder rotation on thoracic epidural access.

Etiologies and characteristics of children with chief complaint of short stature.

PURPOSE: Short stature is a very common reason for visits to pediatric endocrine clinics. It could be the first sign of an underlying disease. The purpose of this study is to investigate the etiologies and general characteristics of subjects who visited an outpatient clinic due to short stature. METHODS: We retrospectively reviewed the medical records of 3,371 patients who visited Severance Children's Hospital with the chief complaint of short stature from 2010 to 2012. Medical history, auxological data, and laboratory tests including bone age were collected and analyzed. Chromosome studies or combined pituitary function tests were performed if needed. RESULTS: Approximately 89.4% of the subjects with the chief complaint of short stature who visited the outpatient clinic were of normal height, and only 10.6% of subjects were identified as having short stature. Of the subject of short stature, 44.7% were classified as having normal variant short stature; that is, familial short stature (23.0%), constitutional delay in growth (17.7%), and mixed form (3.9%). Pathological short stature was found in 193 subjects (54.2%). Among pathological short stature, most common etiology was growth hormone deficiency (GHD) (38.9%). CONCLUSION: A majority of children had a normal height. Among children with short stature, pathological short stature and normal variants occupied a similar percentage. GHD was the most common cause of pathological short stature and found in about 20% of the children with short stature. In pathological short stature, the height, height velocity, and IGF-1 level were lower than in normal variants.

Comparison between Glidescope and Lightwand for tracheal intubation in patients with a simulated difficult airway.

BACKGROUND: Although Lightwand and Glidescope have both shown high success rates for intubation, there has been no confirmation as to which device is most effective for difficult endotracheal intubation. We compared the Glidescope and Lightwand devices in terms of duration of intubation and success rate at the first attempt in a simulated difficult airway situation. METHODS: Fifty-eight patients were randomized to undergo tracheal intubation with either the Glidescope (Glidescope group, n = 29) or the Lightwand (Lightwand group, n = 29). All patients were fitted with a semi-hard cervical collar in order to simulate a difficult airway, and intubation was attempted with the assigned airway device. The data collected included the rate of successful endotracheal intubation, the number of attempts required, the duration of the intubation, as well as the interincisor distance, hemodynamic variables, and adverse effects. RESULTS: There was no difference between Glidescope group (92.6%) and Lightwand group (96.4%) in terms of success rate for the first attempt at intubation. The duration of successful intubation for the first tracheal intubation attempt was significantly longer in Glidescope group than in Lightwand group (46.9 sec vs 29.5 sec, P = 0.001). All intubations were completed successfully within two intubation attempts. The incidence of hypertension was significantly higher in Glidescope group than in Lightwand group (51.9% vs 17.9%, P = 0.008). CONCLUSIONS: In a simulated difficult airway situation, endotracheal intubation using Lightwand yielded a shorter duration of intubation and lower incidence of hypertension than when using Glidescope.

A case of thyrotoxic periodic paralysis as initial manifestation of Graves' disease in a 16-year-old Korean adolescent.

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism, with recurrent muscle paralysis and hypokalemia that are caused by an intracellular shift of potassium. TPP is relatively common in Asian males, but is extremely rare in children and adolescents, even for those of Asian descent. We describe a 16-year-old Korean adolescent presenting with a two-week history of episodic leg weakness in the morning. He showed sinus tachycardia, lower leg weakness, and hypokalemia. Thyroid function test showed hyperthyroidism, and thyroid ultrasonography revealed a diffuse enlarged thyroid with increased vascularity, consistent with Graves' disease. He was treated with ß-adrenergic blocker and antithyroid drugs. He has been symptom free for one year, as his hyperthyroidism has been controlled well with antithyroid drugs. TPP should be considered in children and adolescents with acute paralysis of the lower extremities and hypokalemia.

Adult height in girls with central precocious puberty treated with gonadotropin-releasing hormone agonist with or without growth hormone.

PURPOSE: There is controversy surrounding the growth outcomes of treatment with gonadotropin-releasing hormone agonist (GnRHa) in central precocious puberty (CPP). We analyzed height preservation after treatment with GnRHa with and without growth hormone (GH) in girls with CPP. METHODS: We reviewed the medical records of 82 girls with idiopathic CPP who had been treated with GnRHa at Severance Children's Hospital from 2004 to 2014. We assessed the changes in height standard deviation score (SDS) for bone age (BA), and compared adult height (AH) with midparental height (MPH) and predicted adult height (PAH) during treatment in groups received GnRHa alone (n=59) or GnRHa plus GH (n=23). RESULTS: In the GnRHa alone group, the height SDS for BA was increased during treatment. AH (160.4±4.23 cm) was significantly higher than the initial PAH (156.6±3.96 cm) (P<0.001), and it was similar to the MPH (159.9±3.52 cm). In the GnRHa plus GH group, the height SDS for BA was also increased during treatment. AH (159.3±5.33 cm) was also higher than the initial PAH (154.6±2.55 cm) (P<0.001), which was similar to the MPH (158.1±3.31 cm). Height gain was slightly higher than that in the GnRHa alone group, however it statistically showed no significant correlation with GH treatment. CONCLUSION: In CPP girls treated with GnRHa, the height SDS for BA was increased, and the AH was higher than the initial PAH. Combined GH treatment showed a limited increase in height gain.