• Journal of Genetic Medicine
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• v.19 no.2
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• Archives of Craniofacial Surgery
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• v.24 no.2
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• pp.73-77
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• 2023

Hidradenitis suppurativa (HS) is a chronic inflammatory condition that is difficult to diagnose, with a period of 10.0±9.6 years from symptom onset to diagnosis. A 32-year-old Asian man presented with bilateral postauricular abscesses that first appeared 5 years previously. Despite several incisions and drainage, the symptoms only temporarily improved and continued to recur. On physical examination, chronic scars and sinus tracts were observed around the lesion. Postauricular HS was diagnosed, and surgical treatment was performed. We performed a wide excision and reconstructed the defect using a posterior auricular artery perforator-based keystone flap. Histological examination confirmed the diagnosis of HS. The reconstruction was successful, and there was no recurrence for 2 years after surgery. HS is difficult to diagnose without specific attention. Although the postauricular region is not a typical site of HS, it can occur in this area. Therefore, if a patient presents with recurrent abscesses in the postauricular region, HS should be considered. Additionally, if HS is diagnosed in the postauricular region, wide excision with reconstruction using a posterior auricular artery perforator-based keystone flap can lead to a favorable outcome.

• Biomedical Science Letters
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• v.29 no.1
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• pp.1-10
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• 2023

Since its first identification in 1995, klotho (KL) has become the most promising gene to consider for suppressing aging and aging-related diseases. KL knockout mice exhibited similar phenotypes found in human with premature aging such as short lifespan, osteoporosis, arteriosclerosis and hearing loss. Genetically modified mice overexpressing KL prolonged lifespan more than 20%. Also, clinical reports have indicated decreased concentration of the circulating KL protein in blood, which is called soluble klotho (sKL), is closely related to development of senile diseases. The best way to discover significance of sKL on the development of the diseases might be comparison of sKL concentration between controls and patients. Here we analyzed published clinical reports identified sKL concentration in the cohorts. The sKL concentrations were displayed using heatmap for better comparison. In most of the senile diseases, disease progression was inversely related with sKL concentration. Hypertension was the only disease had no relationship, while schizophrenia was the only disease had direct proportion to the disease progression. Overall, sKL concentration in blood could be a marker to determine current severity of the senile diseases and even to estimate disease progression for the patients at the onset of their senile diseases.

• Journal of Veterinary Clinics
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• v.41 no.2
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• pp.106-111
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• 2024

A 4-year-old neutered female domestic shorthair cat weighing 5.1 kg was referred to Jeju National University Hospital with acute onset respiratory distress, weakness, and anorexia. The patient had a history of stressful antecedent events that involved bullying by a newly introduced cat. Thoracic radiography and echocardiography revealed a stage C hypertrophic cardiomyopathy phenotype based on the American College of Veterinary Internal Medicine classification system with pulmonary edema, pleural effusion, and pericardial effusion at the same time. The patient was treated with furosemide, pimobendan, and rivaroxaban. Pericardiocentesis was performed because pericardial effusion was identified. Reevaluation after 30 days revealed a normal respiratory rate on physical examination, normal cardiac shape on thoracic radiographs, and normal cardiac measurements on echocardiography. The patient was tentatively diagnosed with transient myocardial thickening (TMT) and all medications were discontinued. Six months after the initial hospitalization, the cat continued to do well without any clinical signs or left ventricular wall thickening. This case is the first report describing feline TMT in Korea. Moreover, it involves a rare case in which pulmonary edema, pleural effusion, and pericardial effusion, which induce cardiac tamponade, occurred simultaneously due to TMT-related congestive heart failure.

• Journal of Korean Academy of Nursing
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• v.54 no.2
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• pp.139-150
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• 2024

Purpose: This study aimed to identify changes in sleep patterns and fatigue levels during consecutive night shifts among shift nurses and to determine the association between sleep parameters and increased fatigue levels during work. Methods: This prospective observational study employing ecological momentary assessments was conducted using data collected from 98 shift nurses working in Korean hospitals between June 2019 and February 2021. The sleep patterns were recorded using actigraphy. The participants reported their fatigue levels at the beginning and end of each night shift in real time via a mobile link. Linear mixed models were used for the analysis. Results: Nurses spent significantly less time in bed and had shorter sleep durations during consecutive night shifts than on off-duty days, whereas their wake times after sleep onset were much longer on off-duty days than on on-duty days. Fatigue levels were higher on the second and third night-shift days than on the first night-shift days. A shorter time spent in bed and asleep was associated with a greater increase in fatigue levels at the end of the shift than at the beginning. Conclusion: Nurses experience significant sleep deprivation during consecutive night shifts compared with off-duty days, and this sleep shortage is associated with a considerable increase in fatigue levels at the end of shifts. Nurse managers and administrators must ensure sufficient intershift recovery time during consecutive night shifts to increase the time spent in bed and sleeping.

• Clinical and Experimental Vaccine Research
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• v.13 no.3
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• pp.259-262
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• 2024

There have been many studies on the adverse effects of coronavirus disease 2019 (COVID-19) vaccines but the urinary incontinence after COVID-19 vaccination is rare. Here, we report an 8-year-old boy presented to outpatient department, Thai Binh University of Medicine Hospital, Thai Binh, Vietnam with complaints of urinary incontinence for the past 2 weeks, following the first dose of the messenger RNA vaccine. He had no other abnormalities in clinical and laboratory exams. This clinical situation suggested vaccine side effects. No specific treatment was administered upon diagnosis without toilet and bladder training. Subsequent monitoring revealed a gradual reduction in symptoms over 2 months, with complete recovery achieved at the 14th week from the onset of symptoms, without necessitating any medical intervention. This case highlights the need for thorough evaluation and assessment of potential adverse effects following vaccination, including uncommon presentations.

• Clinical and Experimental Vaccine Research
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• v.11 no.1
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• pp.129-132
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• 2022

The coronavirus disease 2019 (COVID-19) vaccines are authorized for use in numerous countries worldwide. Several cutaneous findings are reported after severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) vaccination. Here, we report the case of a patient with a rapid onset of alopecia areata immediately after receiving the second dose of the COVID-19 vaccine. Alopecia areata is a common autoimmune disease leading to non-scarring hair loss. Among the many cutaneous adverse effects reported after the anti-SARS-COV2 vaccination, no episodes of alopecia areata have been described to date. In this paper, we report the first case of alopecia areata after COVID-19 vaccination described in the literature with a revision of cases of alopecia areata reported after other types of vaccination. Although the significance of these skin reactions is not yet known, further studies will certainly clarify whether the development of alopecia areata or other forms of immune-mediated reactions could represent a positive prognostic factor regarding immune protection from SARS-CoV-2.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.41 no.4
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• pp.253-260
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• 2008

Gonadal development, gametogenesis, reproductive cycle, spawning, relative weight of flesh, and onset of sexual maturity of the murex shell, Ceratostoma rorifluum, collected from the rocky intertidal zone of Daehang-ri, Buan-gun, Jeollabuk-do, Korea were investigated monthly from January to December 2005 both cytologically and histologically. The gonads were widely placed on the digestive gland located in the posterior spiral fleshy part in the shell. C. rorifluum had separate sexes, and was an internal fertilizer. The sex ratio of females to males was approximately 1:1. The ovary and testis contained a great number of oogenic follicles and spermatogenic tubules, respectively. The oogonia and fully ripe oocytes were $15-19{\mu}m$ and $150-160{\mu}m$ in diameter, respectively, and the cytoplasm of the ripe oocytes contained a number of yolk granules. The relative weight of flesh reached a maximum in August($39.35{\pm}0.40%$), and then decreased rapidly in November($32.75{\pm}1.20%$). The percentages of female and male snails at first sexual maturity with shell heights ranging from 12.1-14.0 mm were 60.0% and 52.9%, respectively, while 100% of the snails of both sexes with shell heights over 18.1 mm were reproductively active. Based on the gonadal development and histological observations, the reproductive cycle of the snail could be categorized into five successive stages: early active(December to May), late active(March to July), ripe(June to September), spawning(July to October), and recovery(October to March). C. rorifluum spawned once a year between July and October, and the majority of spawning occurred in September when the seawater temperature exceeded $23.5^{\circ}C$.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.22 no.3
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• pp.167-177
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• 2009

Objective : Bell's palsy is common and has many clinic study. but bell's palsy sequela is not enough study until now. So this study was evaluated bell's palsy sequela, catamnesis, demonstrator and herb. Methods : From December 2007 to November 2008, patients who visited Dong-seo Oriental Medicine ENT. A clinic study was done on patient who were diagosed bell's palsy, onset 2months over when first visited OPD and treated 3weeks over in Dong-seo Oriental Medicine Cental. To evaluate grade of paralysis, House-Brackman Scale was used. We classified period of improving, sequelas symptom except of facial muscle paralysis, Oriental Medicine diagnosis and herb. Results & Conculsion : 1. The distribution of sex : male 38.88%, female 61.11%. The distribution of age was presented that forty to fifty was the most in 10case(55.55%) 2. The distribution of the region of facial palsy : Rt(55.55%), Lt(44.44%) 3. In distribution of period of first HB-Scale improving : 1~2month was most in 10case(55.55%) 4. In distribution of symptom except of facial muscle paralysis : Dryness of eye 33.33%, Tearling 22.22%, Facial hypoesthesia 22.22%, Mastoid pain 22.22% 5. The distribution of demonstrator : Gi Deficiency and Deficiency of Both Gi and Blood was most in 11case(50%) 6. The distribution of treatment : Palmul-tang and Bojungikki-tang was the most herb in 6case(33.33%) and only acupuncture treatment and rehabilitation treatment was 5case(27.77%).

• Korean Journal of Head & Neck Oncology
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• v.18 no.2
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• pp.192-196
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• 2002

Objectives: Tuberculous cervical lymphadenitis is a frequently recurring disease when treated with chemotherapy alone without enough surgical removal of the tuberculous lesions. Authors reviewed retrospectively the treatment result of antituberculous chemotherapy following almost complete surgical removal of tuberculous foci in the neck. Materials and Methods: A retrospective clinical review and analysis was made in 127 cases of tuberculous cervical lymphadenitis patients treated during the past 10 years from 1989 to 1998 at the Department of General Surgery, Inje University Paik Hospital, Pusan. Results: 1) The peak age incidence was the 2nd decade(37.8%), and female was predominated over male by 2.3:1. 2) The time interval from the onset of symptoms to the first visit was less than 3 months in 60.6% of the patient. 3) The location of lymphadenitis was the right neck in 60%, the left neck 34%, and bilateral in 6% of the patient. 4) Signs on the first visit showed solitary masses(60%), abscess(25%) and both mixed(15%). 5) 25 patients(19%) had present or past history of tuberculosis; pulmonary tuberculosis 12 patients, tuberculous lymphadenitis 10 patients, and others 3 patients. 6) Locations of tuberculous lymphadenitis were posterior cervical triangle 70, supraclavicular 51, submandibular 19, anterior triangle 16 and others 4 cases. 7) The principle of treatment of cervical lymphadenitis was surgical management followed by chemotherapy. Surgical procedures were excision(s), curettage and drainage of abscess, combination of both, and biopsy in 60%, 22%, 12% and 6% respectively. Mean duration of antituberculous medication was 9 months after surgery. 8) The rate of recurrent and persistent tuberculous lymphadenitis was 9% in 4 years follow up. Conclusion: Tuberculous cervical lymphadenitis is a frequently recurring disease in young adult when only antituberculous chemotherapy was employed without almost complete removal of the lesions. It is considered that antituberculous medications for 6-9 months after removing the foci at a maximal extent by surgical excision and curettage will reduce the recurrence rate or persistence of tuberculous lymphadenitis.