Haploinsufficiency of A20 (HA20) is a newly described autoinflammatory disease caused by loss-of-function mutations in the TNFAIP3 gene. Clinical phenotypes are heterogenous and resemble Behçet’s disease, juvenile idiopathic arthritis, inflammatory bowel disease, or periodic fever syndrome, with symptoms developing at an early age. Here, we report the first case of infantile familial HA20 in Korea, which mimics neonatal lupus erythematosus (NLE). A 2-month-old infant exhibited symptoms including recurrent fever, erythematous rashes, and oral ulcers, with elevated liver enzymes, and tested positive for several autoantibodies, similar to systemic lupus erythematosus (SLE); therefore, she was suspected to have NLE. However, six months after birth, symptoms and autoantibodies persisted. Then, we considered the possibility of other diseases that could cause early onset rashes and abnormal autoantibodies, including autoinflammatory syndrome, monogenic SLE, or complement deficiency, all of which are rare. The detailed family history revealed that her father had recurrent symptoms, including oral and genital ulcers, knee arthralgia, abdominal pain, and diarrhea. These Behcet-like symptoms last for many years since he was a teenager, and he takes medications irregularly only when those are severe, but doesn’t want the full-scale treatment. Whole-exome sequencing was conducted to identify a possible genetic disorder, which manifested as pathogenic variant nonsense mutation in the TNFAIP3 gene, leading to HA20. In conclusion, HA20 should be considered in the differential diagnosis of an infant with an early-onset dominantly inherited inflammatory disease that presents with recurrent oral and genital ulcerations and fluctuating autoantibodies. Additionally, it also should be considered in an infant with suspected NLE, whose symptoms and abnormal autoantibodies persist.

We aimed to validate Baveno VI and expanded Baveno VI criteria using two dimensional shear-wave elastography (2D-SWE) in compensated advanced chronic liver disease (cACLD) patients with alcohol as the main etiology.

Clinical data from 305 patients with cACLD who underwent a liver stiffness measurement (LSM) with 2D-SWE and endoscopy were consecutively collected.

Among 305 patients, high-risk varix (HRV) was identified in 21.3% (n = 65). The main etiology was alcoholic liver disease (51.8%), followed by hepatitis B virus (29.8%) and hepatitis C virus (9.1%). Baveno VI criteria spared endoscopy in 118 of the 305 (38.7%) patients, and 7 (5.9%) were missed with HRV. Expanded Baveno VI criteria spared more endoscopies (60.0%), but missed more HRV (9.8%) compared with Baveno VI criteria. The other classification described as the modified Baveno VI criteria were LSM < 25 kPa and PLT ≥ 150 × 10³/mm³. In total, 131 of the 305 (43.0%) patients were within the modified Baveno VI criteria, of whom seven (5.3%) had missed HRV. After adding spleen diameter < 12 cm to the modified Baveno VI criteria, the number of spared endoscopies increased by 106/305 (34.8%), with three (2.8%) presenting with HRV, indicating a risk of missing HRV.

Baveno VI and expanded Baveno VI criteria with 2D-SWE were insufficient with an HRV miss rate of over 5%. The modified Baveno VI criteria with spleen diameters < 12 cm with 2D-SWE spared more endoscopies with a minimal risk of missing HRV in cACLD patients with alcohol as the main etiology.

Baveno VI and expanded Baveno VI criteria with 2D-SWE were insufficient with an HRV miss rate of over 5%. The modified Baveno VI criteria with spleen diameters less then 12 cm with 2D-SWE spared more endoscopies with a minimal risk of missing HRV in cACLD patients with alcohol as the main etiology.

This study reviews recent literature on facial palsy guidelines and provides systematic reviews on related topics of interest.

An electronic database search was performed to identify recent guidelines dealing with facial nerve palsy, systematic reviews and recent meta-analysis published between 2011 and 2019 (inclusive). The literature search used the search terms «Bell’s palsy,» «Ramsay-Hunt syndrome,» «Facial palsy,» «Facial paralysis,» «Facial paresis,» «Guideline,» «Meta-analysis,» «Systematic review,» and «Randomized controlled trial.» Only studies written in English were used.

The characteristics of treatment trends for facial palsy have been reviewed over the past decade. SGI1776 The most prominent change noted may be the shift from the conventional House-Brackmann facial nerve grading system to the Sunnybrook and eFACE systems. In addition, the results of serial meta-analyses indicate increasing agreement with the use of surgical decompression of the facial nerve. Beyond steroids or combined steroid-antiviral treatment, various novel drugs and treatments have been tried. For long-standing facial paralysis and postparetic synkinesis sequelae after facial palsy, facial reanimation has been highlighted and the necessity of new paradigms have been raised.

For peripheral facial paralysis, various changes have been made, not only in the facial nerve grading systems, but also in medical treatments, from surgical procedures to rehabilitation, during the last decade.

For peripheral facial paralysis, various changes have been made, not only in the facial nerve grading systems, but also in medical treatments, from surgical procedures to rehabilitation, during the last decade.

Congenital cytomegalovirus (CMV) infection is the most common non-genetic cause of sensorineural hearing loss (SHNL) in children. Only about 10% to 15% of children with congenital CMV are symptomatic, and most are not diagnosed at birth. About 7% to 15% of clinically asymptomatic patients may develop later complications, including SNHL, which is the most common sequela in clinically asymptomatic patients. In this study, hearing status was investigated in children with confirmed CMV infection and neonatal hearing screening (NHS) histories were reviewed to explore hearing loss caused by CMV.

The medical records of 58 children who were diagnosed with confirmed CMV infection were reviewed for clinical symptoms and signs of CMV infection. Hearing status was evaluated with age-appropriate audiological test batteries.

A total of 58 children (MF = 3226 patients; age at study mean, 5.62 years, range, 1-10 years) were diagnosed serologically with CMV infection (14 patients, 21.1%), or diagnosed via PCR of serum (5, 7.