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Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS. In this case, the patient showed short stature, dysmorphic facial features suggestive of NS, feeding intolerance, cryptorchidism, and intellectual disability in early childhood. At the age of 16, the patient still showed extreme short stature with delayed puberty and characteristic facial features suggestive of NS. Although the patient had no cardiac problems or chest wall deformities, which are commonly present in NS and are major concerns for patients and clinicians, the patient showed several other characteristic clinical features of NS. Considering the possibility of a genetic disorder, including NS, a molecular genetic study with TES was performed. With TES analysis, we detected a pathogenic variant of c.458A > T in KRAS in this patient with atypical NS phenotype and provided appropriate clinical management and genetic counseling. The application of TES enables accurate molecular diagnosis of patients with nonspecific or atypical features in genetic diseases with several responsible genes, such as NS.

In this study, the antithrombotic and thrombolytic ability of second fermented extract of Ophiopogon japonicus (FEOJ) was verified in thrombosis-induced rats. Thrombosis was induced by oral administration of 2% carrageenan for 4 weeks. Five experimental groups (n = 9/group) involved in the study were control group, thrombosis group, low-dose FEOJ group (2 mL/kg, low-dose Ophiopogon japonicus [LOJ]), middle-dose FEOJ group (6 mL/kg, medium-dose Ophiopogon japonicus [MOJ]), and high-dose FEOJ group (12 mL/kg, high-dose Ophiopogon japonicus [HOJ]). The clotting time (CT), bleeding time (BT), prothrombin time (PT), activated partial thromboplastin time (APTT), and fibrinogen (FBG) were assessed in blood samples, and histological studies were performed on liver and lung tissues. The results demonstrated delayed CT only in MOJ and HOJ groups and delayed BT in all FEOJ groups compared with those in thrombosis and control groups (P .05). Similarly, APTT was significantly delayed only in MOJ and HOJ groups, and PT was significantly delayed in all FEOJ groups, compared with those in control and thrombosis groups (P .05). Although concentrations of FBG were similar in control, thrombosis, and LOJ groups, the tendency for decreased concentration of FBG (statistically nonsignificant) in MOJ and HOJ groups has been observed. Histological examination of livers and lungs revealed that thrombosis was partially improved in FEOJ group compared with the thrombosis group. In conclusion, CT, BT, PT, and APTT were prolonged in FEOJ group more than in control and thrombosis groups, thereby, depicting antithrombotic and thrombolytic effects. However, concentration-dependent effects of FEOJ were more prominent in MOJ and HOJ groups than in the LOJ group.

수두 예방접종이 시행된 이 후 수두대상포진 바이러스의 합병증은 감소하고 있다. 하지만 면역저하환자의 합병증은 더욱 심한 양상으로 발현되기도 한다. 저자들은 13세 정상 면역 환아에서 수두대상포진바이러스에 의한 뇌수막염 증례를 보고하고자 한다. 환아는 3일전부터 발생한 두통, 발열을 주소로 입원하였고, 뇌척수액 검사에서 바이러스성 뇌수막염이 의심되었다. 입원...

To investigate the hair growth-promoting effect of Miscanthus sinensis var. purpurascens (MSP) flower extracton on in vitro and in vivo models. MSP flower extract was extracted in 99.9% methanol and applied to examine the proliferation of human dermal papilla cells (hDPCs) in vitro at the dose of 3.92–62.50 μg/mL and hair growth of C57BL/6 mice in vivo at the dose of 1000 μg/mL. The expression of transforming growth factor β1 (TGF-β1), hepatocyte growth factor (HGF), β-catenin, substance P was measured by relative quantitative realtime polymerase chain reaction. Histopathological and immunohistochemical analysis were performed. MSP (7.81 μg/mL) down-regulated TGF-β1 and up-regulated HGF and β-catenin in hDPCs (P

Objective To evaluate the in-hospital consequences of prolonged respiratory support with invasive mechanical ventilation in very low birth weight infants. Study design A cohort study was performed using prospectively collected data from 69 neonatal intensive care units participating in the Korean national registry. In total, 3508 very low birth weight infants born between January 1, 2013 and December 31, 2014 were reviewed. Results The adjusted hazard ratio for death increased significantly for infants who received mechanical ventilation for more than 2 weeks compared with those were mechanically ventilated for 7 days or less. The individual mortality rate increased after 8 weeks, reaching 50% and 60% at 14 and 16 weeks of cumulative mechanical ventilation, respectively. After adjusting for potential confounders, the cumulative duration of mechanical ventilation was associated with a clinically significant increase in the odds of bronchopulmonary dysplasia and pulmonary hypertension. Mechanical ventilation exposure for longer than 2 weeks, compared with 7 days or less, was associated with retinopathy of prematurity requiring laser coagulation and periventricular leukomalacia. The odds of abnormal auditory screening test results were significantly increased in infants who needed mechanical ventilation for more than 4 weeks. A longer cumulative duration of mechanical ventilation was associated with increased lengths of hospitalization and parenteral nutrition and a higher probability of discharge with poor achievement of physical growth. Conclusions Although mechanical ventilation is a life-saving intervention for premature infants, these results indicate that it is associated with negative consequences when applied for prolonged periods.

We investigated whether the angiotensin converting enzyme inhibitor, ramipril, could attenuate white matter lesions caused by chronic hypoperfusion in the rat, and whether suppression of oxidative stress is involved in the resulting neuroprotection. The ramipril treatment group showed significant protection from development of white matter lesions in the optic tract, the anterior commissure, the corpus callosum, the internal capsule and the caudoputamen. The level of malondialdehyde (MDA) and the oxidized glutathione (GSSG)/total glutathione (GSH t ) ratio was also significantly decreased in the ramipril group compared to the vehicle-treated group. These results suggest that ramipril can protect against white matter lesions that result from chronic ischemia due to its effects on free radical scavenging. Further efficacy should be studied in the treatment of cerebrovascular insufficiency states and vascular dementia.

Though there are no available statistics, about 5,000 cosmetic jaw operations seem to be performed yearly in South Korea [1]. The frequency of jaw surgery is increasing in South Korea and in the United States. Recently, serious complications, including mortality, have been reported in the mass media. An editorial of a Korean daily newspaper insisted that the Korean Medical Association and the authorities have a certification system, which includes regulation that hospitals and clinics, with expertise and proficiency only, can perform jaw surgery and regulate unwarranted advertisement for surgery. In the literature, 32% to 52% of the patients who underwent jaw surgery had sensory disturbances and 17% had respiratory disturbances [2,3]. No cases of mortality have been reported in any scientific papers; however, articles on cases of mortality due to jaw surgery have been found in several newspapers (Appendix 1). We searched for mortality cases after jaw surgery via an internet search. The search keywords were: orthognathic, maxillofacial, jaw, surgery, die, death, and mortality. Among 5,000 cases, there were 20 cases (0.4%) of serious complications after jaw surgery. We found 17 cases of mortality and 3 cases of patients in a vegetative state after jaw surgery. Among the 20 cases of serious complications, 15 (75%) were caused by airway obstruction, followed by 3 (15%) caused by bleeding, 1 (5%) caused by hypotension, and 1 of unknown cause (Tables 1, ​,22). Table 1 The mortality cases in the mass media Table 2 Causes of death following jaw surgeries Respiratory insufficiency after jaw surgery is due to airway obstruction that results from edema of the respiratory tract. Because the upper jaw and lower jaw are fixed by intermaxillary fixation after jaw surgery, the patients cannot expectorate sputum easily. Jaw surgery for prognathia has a risk of negative pressure pulmonary edema because it makes a patient's upper airway space narrower by moving the lower jaw backwards. Bleeding and swelling in the oral cavity also make the airway space narrower. In addition, oozing from the wound sometimes irritates the patient's larynx and might initiate laryngospasm [4,5]. In order to maintain a patent airway, the following standards should be met: 1) Pulse oximeter is essential. Oxygen saturation decreases 1 minute after airway obstruction. Therefore, immediate treatment is needed when a decrease in oxygen saturation is observed. 2) Capnography, the monitoring of the concentration or partial pressure of carbon dioxide (CO2) in the respiratory gases, may be very effective. It is direct monitoring of the exhaled concentration of CO2. A sudden drop in the CO2 level during the postoperative period can be detected. 3) Fully equipped and readily available suction, epinephrine spray, intubation, and tracheostomy sets should be prepared at the bedside. A mildly humid atmosphere should be kept. 4) Surgeons or anesthesiologists should be present at all times. In a hypoxic state, the following standards should be met: 1) Check whether the patient is breathing well or not. 2) Encourage deep breathing. 3) Give oxygen at 3 to 5 L per minutes via a mask. 4) If oxygen saturation drops below 80%, insert a nasal airway. 5) If cyanosis or tachycardia appears, remove the intermaxillary fixation and perform intubation. 6) If intubation fails or bradycardia appears, carry out tracheostomy immediately.

Background: Geranium sibiricum L. has been used as a medicinal plant to treat diarrhea, bacterial infection, and cancer in Bulgaria, Peru, and Korea. However, its hair growth-promoting effect was not investigated so far. This study examined the effects of Geranium sibiricum L. extract (GSE) on hair growth, using in vitro and in vivo models. Methods: Antioxidant, proliferation and migration assay of GSE was performed with human dermal papilla cells (hDPCs). Hair-growth promoting effect was measured in animal model. Relative expression of interleukin-1, vascular endothelial growth factor, hepatocyte growth factor, and transforming growth factor beta 1 was determined by real time RT-PCR. Expression of Ki-67 and stem cell factor were analyzed by immunohistochemistry. Results: GSE treatment proliferated and migrated human dermal papilla cells (hDPCs) more than treatment of 10 mu M minoxidil. GSE significantly stimulated the expression of Ki-67 protein and the mRNA levels of hepatocyte growth factor and vascular endothelial growth factor in hDPCs. Topical application of 1,000 ppm GSE for 3 weeks promoted more significant hair growth on shaved C57BL/6 mice than did 5% minoxidil. The histological morphology of hair follicles demonstrated an active anagen phase with the induction of stem cell factor. GSE treatment significantly reduced the number of mast cells and the expression of transforming growth factor beta 1 in mouse skin tissues. Conclusions: These results demonstrated that GSE promotes hair growth in vitro and in vivo by regulating growth factors and the cellular response.