• Journal of Oral Medicine and Pain
• /
• v.47 no.1
• /
• pp.62-66
• /
• 2022

Recent case studies raised the possibility that cutaneous and oral mucosal manifestations may be associated with the coronavirus disease 2019 (COVID-19) vaccination. A healthy 43-year-old male presented an acute aphthous stomatitis following Moderna COVID-19 vaccination. This rare case draws attention to a potential etiologic effect for oral mucosal manifestation from COVID-19 vaccination. Further investigation to shed light on prevalence and pathophysiologic association of this oral lesion and COVID-19 vaccination deserve attention.

• Journal of Genetic Medicine
• /
• v.20 no.1
• /
• pp.15-24
• /
• 2023

Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.

• Clinical and Experimental Vaccine Research
• /
• v.12 no.2
• /
• pp.176-178
• /
• 2023

We report the case of a toddler, with a history of mild atopic dermatitis (AD) since early infancy, presented to the Giannina Gaslini, a pediatric polyclinic hospital, 14 days after measles-mumps-rubella (MMR) vaccination, for the occurrence of a disseminated vesico-pustular rash, accompanied by general malaise, fever, restlessness, and anorexia. Eczema herpeticum (EH) was diagnosed clinically and confirmed by laboratory examinations. The exact pathogenesis of EH in AD is still debated and possibly involves an inter-play between altered cell-mediated and humoral immunity, failure to up-regulate antiviral proteins, and exposure of viral binding sites through the dermatitis and an epidermal barrier failure. We hypothesize that in this particular case, MMR vaccination might have played an additional important role in the alteration of innate immune response, facilitating the manifestation of herpes simplex virus type 1 in the form of EH.

• Advances in pediatric surgery
• /
• v.4 no.2
• /
• pp.125-130
• /
• 1998

To assess the clinical and nutritional status of long-term survivors of biliary atresia, history taking, medical record review, physical examination (height, weight, MAC, TSF), blood tests (LFT, prothrombin time, platelet count, prealbumin, calcium) and liver needle biopsy were performed in 12 patients in whom Kasai procedure were performed more than 10 years ago at Department of Pediatric Surgery in Seoul National University Hospital. None were below the 5th percentile in height and weight. TSF was above the 75th percentile in all patients and showed good subcutaneous fat deposition. MAC was above the 5th percentile in all patients. Serum prealbumin level was abnormal in 2 patients with abnormal liver function and revealed visceral protein malnutrition. Serum calcium level was decreased below normal range in 4 patients with abnormal liver function. One patient had mild ascites. Five patients had abnormal liver function and 7 patients showed clinical manifestation of portal hypertension. Liver needle biopsy was performed in 5 patients and no cirrhotic change was observed. Although some patients who have survived for more than 10 years after Kasai procedure developed protein malnutrition and vitamin deficiencies, growth and development and nutritional status were generally satisfactory. Five patients(42%) showed normal liver function and no portal hypertension. In conclusion, Kasai procedure is satisfactory as a primary treatment in biliary atresia but significant portion of long-term survivors had abnormal liver function and portal hypertension. Continuous and careful follow-up is necessary to determine when liver transplantation may be indicated.

• Annals of Clinical Neurophysiology
• /
• v.2 no.2
• /
• pp.89-94
• /
• 2000

Purpose : Carpal tunnel syndrome (CTS) is a disorder of median nerve at wrist. It is usually diagnosed through clinical manifestation and nerve conduction study (NCS). However, sometimes, NCS does not provide a reliable evidence to reach the diagnosis. Thus, authors performed this study to determine whether NCS was correlated with specific parameters measured on magnetic resonance imaging (MRI) which might become a potential complemental diagnostic tool. Methods : We performed MRI in 34 wrists of 18 patients with clinical manifestations of CTS and pathologic nerve conduction values and analyzed them at levels of the distal radioulnar joint, pisiform and hook of hamate, Results : Increase in the cross-sectional area of the median nerve at the pisiform level and flattening, increased signal intensity, and contrast enhancement of the median nerve at levels of the pisiform and hook of hamate were statistically significant. Change in cross sectional areas between the distal radioulnar joint and hamate and the signal intensities at levels of pisiform and hamate were well correlated with the median nerve conduction velocity. Conclusions : Characteristic MRI findings in CTS reported previously were well demonstrated and some of MRI parameters are well correlated with nerve conduction study. MRI, despite cost, may help in evaluating CTS.

• Biomolecules & Therapeutics
• /
• v.24 no.3
• /
• pp.207-243
• /
• 2016

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication impairments, as well as repetitive and restrictive behaviors. The phenotypic heterogeneity of ASD has made it overwhelmingly difficult to determine the exact etiology and pathophysiology underlying the core symptoms, which are often accompanied by comorbidities such as hyperactivity, seizures, and sensorimotor abnormalities. To our benefit, the advent of animal models has allowed us to assess and test diverse risk factors of ASD, both genetic and environmental, and measure their contribution to the manifestation of autistic symptoms. At a broader scale, rodent models have helped consolidate molecular pathways and unify the neurophysiological mechanisms underlying each one of the various etiologies. This approach will potentially enable the stratification of ASD into clinical, molecular, and neurophenotypic subgroups, further proving their translational utility. It is henceforth paramount to establish a common ground of mechanistic theories from complementing results in preclinical research. In this review, we cluster the ASD animal models into lesion and genetic models and further classify them based on the corresponding environmental, epigenetic and genetic factors. Finally, we summarize the symptoms and neuropathological highlights for each model and make critical comparisons that elucidate their clinical and neurobiological relevance.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.19 no.4
• /
• pp.259-268
• /
• 2016

Purpose: Zinc deficiency can induce serious clinical problems in the gastrointestinal (GI) system and immune system and can affect growth and development. It is more severe in younger patients. Chronic zinc deficiency is reflected more precisely in hair than in serum. We studied hair zinc levels and other hair and serum micronutrients in chronic malnourished children to identify which micronutrients are affected or correlated with the other ones. Methods: Hair mineral analyses were performed in 56 children (age, 1-15 years) presenting with malnutrition, poor growth, poor appetite, anorexia, with/without other GI symptoms (diarrhea, abdominal pain, constipation) from August 2012 to March 2015. Biochemical studies for macronutrients and major micronutrients were also conducted. Results: Hair zinc deficiency was diagnosed in 88%, and serum zinc deficiency was diagnosed in 55% of the children. There was no statistical correlation between serum and tissue zinc level. Hair zinc levels were highly correlated with serum vitamin D (r=-0.479, p=0.001), which also showed correlation with hair levels of magnesium and calcium. (r=0.564, 0.339, p=0.001, 0.011). Hair calcium level was correlated with serum pre-albumin (r=0.423, p=0.001). These correlations may explain the phenomenon that the major clinical manifestation of zinc deficiency is poor body growth. Clinical symptoms were resolved in most children after zinc supplementation. Conclusion: Hair zinc and mineral analyses are useful as a therapeutic guide in the clinical investigation of children with malnutrition and poor growth.

• Childhood Kidney Diseases
• /
• v.10 no.2
• /
• pp.162-173
• /
• 2006

Purpose : To report the decreasing indicence of HBV(Hepatitis B virus)-associated membranous nephropathy in children after HBV vaccination and to elucidate the clinical course and treatment strategies of IMN(Idiopathic membranous nephropathy). Methods : We retrospectively reviewed the clinico-pathological findings of HBV-MN and IMN patients who underwent a renal biopsy from 1986 to 2005. We compared the HBV-MN and the IMN groups and the remission and the non-remission groups of patients with IMN. Results : Among 24 cases of MN patients, HBV-MN comprised 6 cases(25%) and IMN 18 cases(75%). Clinical masnifestations were nephrotic syndrome(3 cases, 50%), nephritic syndrome(1 case, 16.7%), asymptomatic(2 cases, 33.4%) in the HBV-MN group, asymptomatic(10 cases, 55.5%), nephrotic syndrome(5 cases, 27.8%), and gross hematuria(3 cases, 16.7%) in the IMN groups. From 1996 to 2000, there were 2 cases(28%) of HBV-MN and 5 cases(72%) of IMN. After 2001 all 10 cases were IMN. In the HBV-MN group, 4 cases(66.7%) received interferon and 1 cases received methylprednisolone pulse therapy. In the IMN group, 16 cases(88.9%) received methylprednisolone, 8 cases(44.4%) were in complete remission, 2 cases(11.1%) were in partial remission, 2 cases(11.1%) were in chronic renal failure, and 5 cases(27.8%) were lost to follow-up with sustained proteinuria, 1 case(5.6%) continued to have frequent relapse of nephrotic syndrome without renal insufficiency. In the comparison between remission and non-remission groups, nephrotic range proteinuria and hypertension were more significantly common in the non-remission group(P<0.05). Conclusion : With HBV vaccination, HBV-MN has decreased markedly. IMN is a rare glomerular disease in children. Because the prognosis for patients with nephrotic range proteinuria is poor this group needs more aggressive treatment.

• Korean Journal of Head & Neck Oncology
• /
• v.18 no.1
• /
• pp.56-59
• /
• 2002

Background and Objective: Even though major salivary gland tumor is a rare disease, the diversity of histopathologic characteristics makes treatment decisions difficult. The aim of this study is to analysis the clinical experience of our major salivary gland tumor and to suggest a guideline of treatment. Materials and Method: Sixty-eight major salivary gland tumors and tumor-like glandular enlargements treated at Sanggye Paik Hospital during the past seven years between June, 1995 and January, 2002 are analyzed for histopathologic diagnosis, treatment modality, clinical manifestation, local control, and treatment-related morbidity, recurrence rate, retrospectively. Results: In twenty-eight patients the swellings were diagnosed as non-tumorous condition. The clinical features, diagnostic and surgical management of fourty salivary neoplasms involving the parotid and submandibular glands are correlated with their histological features. Conclusion: We have concluded that salivary gland neoplasms are needed multimodal treatment, because of their highly variable biologic behavior in each tumor type. Thirty-four cases were benign and six cases were malignant. Most of benign cases were pleomorphic adenoma and they showed wide age-distribution. In six malignant cases, there were acinic cell carcinoma, adenocarcinoma, carcinoma ex-plemorphic adenoma, myoepithelioma, and adenoid cystic carcinoma.

• Clinical and Experimental Pediatrics
• /
• v.61 no.3
• /
• pp.84-89
• /
• 2018

Purpose: Timely antibiotic therapy in selected cases of diarrhea associated with bacterial infections can reduce the duration and severity of illness and prevent complications. The availability of a predictive index before identification of causative bacteria would aid in the choice of a therapeutic agent. Methods: The study included patients admitted to the pediatrics unit at Konyang University Hospital for acute inflammatory diarrhea from August 1, 2015 to July 31, 2016 who underwent multiplex polymerase chain reaction testing. Of 248 patients, 83 had positive results. The clinical symptoms and blood test results were examined in 61 patients with Campylobacter spp. (25 patients), Salmonella spp. (18 patients), and Clostridium perfringens (18 patients) infections. The mean age of the 61 patients (male:femal=31:30) was $84.0{\pm}54.8months$, and the mean hospital stay was $4.6{\pm}1.7days$. Results: There were no statistical differences in sex, age, clinical symptoms, or signs. Patients with Campylobacter infection were significantly older (P=0.00). C-reactive protein (CRP) levels in patients with Campylobacter infection were higher than those in the other 2 groups, at $9.6{\pm}6.1mg/dL$. The results of receiver-operating characteristic curve analysis showed that the cutoff age was ${\geq}103.5months$ (sensitivity, 72%; specificity, 86%) and the CRP cutoff level was ${\geq}4.55mg/dL$ (sensitivity, 80%; specificity, 69%). Conclusion: Age (${\geq}103.5months$) and higher CRP level (${\geq}4.55mg/dL$) were good predictors of Campylobacter enterocolitis. If neither criterion was met, Campylobacter enterocolitis was unlikely (negative predictive value 97.2%). When both criteria were met, Campylobacter enterocolitis was highly likely.