BACKGROUND: Enteroviruses are known as major pathogen for aseptic meningitis. Although rapid diagnosis for enteroviruses is very essential to exclude bacterial infections in patients with meningitis, classical diagnostic method based on virus isolation is not practicable for timely treatment of patients due to its laborious and time-consuming procedure. Recently molecular methodologies as alternatives are routinely used for rapid and sensitive diagnosis for enteroviruses infections. METHODS: Reverse transcription (RT)-PCR ELISA kit for targeting 5'non-coding region (NCR) with highly conserved genetic identity among all genotypes of enteroviruses was introduced in this investigation. RT-PCR ELISA was evaluated about sensitivity and specificity through virus isolation using clinical specimens from patients suspected of enteroviral infections and enteroviral isolates comparing with conventional RT-PCR identifying them. RESULTS: The detection limit of the RT-PCR ELISA was up to 10-100 folds higher than virus isolation using cell culture and conventional RT-PCR. On comparison between above two methods, the detection rate of RT-PCR ELISA for clinical specimens from patients with aseptic meningitis was 7% higher than that of conventional RT-PCR targeting 5'NCR (P=0.016). CONCLUSIONS: Our results suggest that RT-PCR ELISA developed in this study could be an alternative diagnostic method for the detection of enteroviral genome with high sensitivity and specificity.
5' Untranslated Regions ; Adolescent ; Child ; Child, Preschool ; Enterovirus/genetics/*isolation & purification ; Enterovirus Infections/*diagnosis ; *Enzyme-Linked Immunosorbent Assay ; Humans ; Infant ; Meningitis, Aseptic/diagnosis ; RNA, Viral/analysis ; *Reverse Transcriptase Polymerase Chain Reaction ; Rotavirus/genetics ; Rotavirus Infections/diagnosis ; Sensitivity and Specificity

Acrodermatitis continua of Hallopeau (ACH) is a rare form of acropustular eruption characterized by a presence of aseptic pustules on inflammatory periungual or subungual regions. Frequently accompanied by paronychia, atrophic skin changes, onychodystrophy, and osteolysis of distal phalanges of the digits, it is considered to be a variant of pustular psoriasis with a chronic relapsing course and refractoriness to many therapeutic modalities. Here, we present a case of a 45-year-old female who presented with multiple pustules pathologically diagnosed as pustular psoriasis on her left thumb. She suffered from ACH for over a decade, and in the process experienced frequent relapses and showed poor response to numerous treatment modalities such as narrow band UVB, topical steroid, steroid intralesional injection, oral retinoids, 308 nm excimer laser, and oral immune suppressants. However, the patient showed dramatic clinical improvements to administration of etanercept (TNF-alpha antagonist, twice a week) for a period of one month. The cessation of etanercept led to recurrence of symptoms and marked deterioration of the skin lesion within a month again, but the re-initiation of treatment soon relieved the problem. After completion of a three months trial of etanercept, the cutaneous lesion subsided, and the patient is now successfully controlled with topical steroid maintenance therapy. Hereby, we report a patient with ACH successfully treated with etanercept.
Acrodermatitis ; Female ; Humans ; Immunoglobulin G ; Injections, Intralesional ; Lasers, Excimer ; Middle Aged ; Osteolysis ; Paronychia ; Psoriasis ; Receptors, Tumor Necrosis Factor ; Recurrence ; Retinoids ; Skin ; Thumb ; Etanercept

Cancer associated retinopathy (CAR) syndrome is a very rare ocular manifestation of paraneoplastic syndrome, and is characterized clinically by progressive visual impairment. Immune cross-reactivity between antigens in the cancerous tissue and antigens in the retina may play an important role in its pathogenesis, and most of cases are associated with lung carcinoma, particularly small cell lung cancer. The clinical triad of CAR is described as photosensitivity, ring scotomata, and an attenuated retinal arterial caliber. Here, we report a 61-year old male patient with CAR syndrome, who had small cell lung carcinoma in the stage of limited disease, with a brief review of the relevant literature.
Humans ; Lung ; Male ; Middle Aged ; Paraneoplastic Syndromes ; Paraneoplastic Syndromes, Ocular* ; Retina ; Retinaldehyde ; Small Cell Lung Carcinoma* ; Vision Disorders

Background: The rupture of the central slip of an extensor tendon of a finger causes a boutonniere (or buttonhole) deformity, characterized by pathologic flexion at the proximal interphalangeal (PIP) joint and hyperextension at the distal interphalangeal (DIP) joint. Currently, there are no standard treatment guidelines for this deformity. This study aimed to report clinical results of surgery to correct chronic boutonniere deformity. Methods: This retrospective case series was conducted between January 2010 and December 2018 and only 13 patients with trauma-induced chronic deformity were included. After excision of elongated scar tissue, a direct anatomic end-to-end repair using a loop suture technique with supplemental suture anchor augmentation was conducted. Total active motion was assessed before and after surgery and self-satisfaction scores were collected from phone surveys. Results: All patients presented with Burton stage I deformities defined as supple and passively correctable joints. The initial mean extension lag of the PIP joint (43.5°) was improved by an average of 21.9° at the final follow-up (p < 0.001). The mean hyperextension of the DIP joint averaged 19.2° and improved by 0.8° flexion contracture (p < 0.001). The average total active motion was 220.4° (range, 160°–260°). Based on the Souter’s criteria, 69.2% (9/13) of the patients had good results. Only 1 patient reported fair outcome and 23.1% (3/13) reported poor outcome. The average Strickland formula score was 70 (range, 28.6–97.1). In total, 10 patients (77%) had excellent or good results. Of 10 patients contacted by phone, self-reported satisfaction score was very satisfied in 2, satisfied in 3, average in 3, poor in 1, and very poor in 1. Three patients reported a relapse of the deformity during range of motion exercises, 1 of whom underwent revision surgery. One patient complained of PIP joint flexion limitation, and 2 complained of DIP joint flexion limitation at final follow-up. Conclusions In chronic boutonniere deformity, central slip reconstruction with anchor suture augmentation can be an easily applicable surgical option, which offers fair to excellent outcome in 77% of the cases. The risk of residual extension lag and recurrence of deformity should be discussed prior to surgery.

Background: The rupture of the central slip of an extensor tendon of a finger causes a boutonniere (or buttonhole) deformity, characterized by pathologic flexion at the proximal interphalangeal (PIP) joint and hyperextension at the distal interphalangeal (DIP) joint. Currently, there are no standard treatment guidelines for this deformity. This study aimed to report clinical results of surgery to correct chronic boutonniere deformity. Methods: This retrospective case series was conducted between January 2010 and December 2018 and only 13 patients with trauma-induced chronic deformity were included. After excision of elongated scar tissue, a direct anatomic end-to-end repair using a loop suture technique with supplemental suture anchor augmentation was conducted. Total active motion was assessed before and after surgery and self-satisfaction scores were collected from phone surveys. Results: All patients presented with Burton stage I deformities defined as supple and passively correctable joints. The initial mean extension lag of the PIP joint (43.5°) was improved by an average of 21.9° at the final follow-up (p < 0.001). The mean hyperextension of the DIP joint averaged 19.2° and improved by 0.8° flexion contracture (p < 0.001). The average total active motion was 220.4° (range, 160°–260°). Based on the Souter’s criteria, 69.2% (9/13) of the patients had good results. Only 1 patient reported fair outcome and 23.1% (3/13) reported poor outcome. The average Strickland formula score was 70 (range, 28.6–97.1). In total, 10 patients (77%) had excellent or good results. Of 10 patients contacted by phone, self-reported satisfaction score was very satisfied in 2, satisfied in 3, average in 3, poor in 1, and very poor in 1. Three patients reported a relapse of the deformity during range of motion exercises, 1 of whom underwent revision surgery. One patient complained of PIP joint flexion limitation, and 2 complained of DIP joint flexion limitation at final follow-up. Conclusions In chronic boutonniere deformity, central slip reconstruction with anchor suture augmentation can be an easily applicable surgical option, which offers fair to excellent outcome in 77% of the cases. The risk of residual extension lag and recurrence of deformity should be discussed prior to surgery.

Background: Difficult airway occurs due to anatomical abnormalities of the airway that can be predicted through airway assessments; however, abnormalities beyond the vocal cord can be clinically asymptomatic and undetected until intubation failure to advance the endotracheal tube.Case: We present a case of an unanticipated difficult airway in a stuporous 80-year-old female with a recent history of intracerebral hemorrhage and prolonged intubation. She required emergency ventriculo-peritoneal shunt surgery due to the progression of her hydrocephalus. Under anesthesia, facemask ventilation was easy and video laryngoscopy provided a full view of the glottis; however, endotracheal tube (ETT) entry failed. We suspected stenosis beyond the vocal cord, and a smaller diameter ETT was inserted and maintained for airway management during emergency surgery. Postoperative neck computed tomography findings revealed laryngotracheal stenosis (LTS). Conclusions Anesthesiologists should be aware that LTS may be asymptomatic and consider difficult airway guidelines in patients with history of prolonged endotracheal intubation.

Chylopericardium is a rare disease entity characterized by the accumulation of chylous fluid in the pericardial sac. It usually arises from mediastinal neoplasms, thrombosis of the subclavian vein, tuberculosis, nonsurgical trauma, thoracic or cardiac surgery. The spectrum of symptoms for chylopericardium varies from an incidental finding of cardiomegaly to dyspnea, upper abdominal discomfort, cough, chest pain, palpitation, fatigue. However, most of the patients are asymptomatic. The main purpose of treatment of chylopericardium is the prevention of cardiac tamponade and prevention of metabolic, nutritional, and immunological compromise due to chyle leak. Here, we report a case of chylopercardium secondary to lymphangiomyoma with review of the literature.
Cardiac Tamponade ; Cardiomegaly ; Chest Pain ; Chyle ; Cough ; Dyspnea ; Fatigue ; Humans ; Incidental Findings ; Lymphangioma ; Lymphangiomyoma ; Mediastinal Neoplasms ; Pericardial Effusion ; Rare Diseases ; Subclavian Vein ; Thoracic Surgery ; Thorax ; Thrombosis ; Tuberculosis

True aneurysm of the brachial artery is a rare disease entity. The mechanism of aneurysm formation is considered to be compression of the arterial wall, producing contusion of the media and subsequent weakness of the wall and fusiform dilatation. It can be caused by arteriosclerotic, congenital, and metabolic disorders, and can be associated with diseases such as Kawasaki's disease. Doppler ultrasonography, computed tomography, arteriography, and selective upper extremity angiography may be performed for establishing the diagnosis of aneurysm. The best therapeutic option is operative repair, and it should be performed without any delay, in order to prevent upper extremity ischemic or thrombotic sequelae. Here, we report a case of recurrent brachial artery aneurysm with review of the literature.
Aneurysm ; Angiography ; Brachial Artery ; Contusions ; Dilatation ; Rare Diseases ; Ultrasonography, Doppler ; Upper Extremity

Purpose: This study aimed to identify correlations between the status of the umbilical cord and neonatal health status. Methods: In total, 172 newborns were enrolled who were admitted to the newborn nursery with a gestational age of 35 weeks or older and a body weight of 2 kg or above. Data were collected on the basic personal information of the newborns, the diameter and soft tissue status of the umbilical cord, and neonatal health status after birth. Analyses were performed using t-test, analysis of variance, x2 test, and Fisher exact test. Results: Umbilical cord diameter exhibited a statistically significant difference by sex (t=2.71, p=.007). A thin umbilical cord diameter was associated with a 1-minute Apgar score less than 8 points (t=2.47, p=.015) and with being transferred to the intensive care unit (t=2.45, p=.015). Poor soft tissue status of the umbilical cord was associated with a 1-minute Apgar score of less than 8 points (x2=16.68, p<.001) and with oxygen being supplied (x2=4.81, p=.028). Conclusion Assessing the umbilical cord diameter and status in newborns is an important tool for evaluating neonatal health status after birth, and this point also underscores the importance of professionals' careful observations in the newborn nursery.

Ethnically specific data on genetic variation are crucial for understanding human biology and for clinical interpretation of variant pathogenicity. We analyzed data obtained by deep sequencing 1303 Korean whole exomes; the data were generated by three independent whole exome sequencing projects (named the KOEX study). The primary focus of this study was to comprehensively analyze the variant statistics, investigate secondary findings that may have clinical actionability, and identify loci that should be cautiously interpreted for pathogenicity. A total of 495 729 unique variants were identified at exonic regions, including 169 380 nonsynonymous variants and 4356 frameshift insertion/deletions. Among these, 76 607 were novel coding variants. On average, each individual had 7136 nonsynonymous single-nucleotide variants and 74 frameshift insertion/deletions. We classified 13 pathogenic and 13 likely pathogenic variants in 56 genes that may have clinical actionability according to the guidelines of the American College of Medical Genetics and Genomics, and the Association for Molecular Pathology. The carrier frequency of these 26 variants was 2.46% (95% confidence interval 1.73–3.46). To identify loci that require cautious interpretation in clinical sequencing, we identified 18 genes that are prone to sequencing errors, and 671 genes that are highly polymorphic and carry excess nonsynonymous variants. The catalog of identified variants, its annotation and frequency information are publicly available (https://koex.snu.ac.kr). These findings should be useful resources for investigating ethnically specific characteristics in human health and disease.
Biology ; Clinical Coding ; Exome ; Exons ; Genetic Variation ; Genetics, Medical ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Pathology, Molecular ; Virulence