Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population

Antiepileptic Drug Withdrawal after Surgery in Children with Focal Cortical Dysplasia: Seizure Recurrence and Its Predictors

BACKGROUND AND PURPOSE: This study investigated the seizure recurrence rate and potential predictors of seizure recurrence following antiepileptic drug (AED) withdrawal after resective epilepsy surgery in children with focal cortical dysplasia (FCD). METHODS: We retrospectively analyzed the records of 70 children and adolescents with FCD types I, II, and IIIa who underwent resective epilepsy surgery between 2004 and 2015 and were followed for at least 2 years after surgery. RESULTS: We attempted AED withdrawal in 40 patients. The median time of starting the AED reduction was 10.8 months after surgery. Of these 40 patients, 14 patients (35%) experienced seizure recurrence during AED reduction or after AED withdrawal. Half of the 14 patients who experienced recurrence regained seizure freedom after AED reintroduction and optimization. Compared with their preoperative status, the AED dose or number was decreased in 57.1% of patients, and remained unchanged in 14.3% after surgery. A multivariate analysis found that incomplete resection (p=0.004) and epileptic discharges on the postoperative EEG (p=0.025) were important predictors of seizure recurrence after AED withdrawal. Over the mean follow-up duration of 4.5 years after surgery, 34 patients (48.6% of the entire cohort) were seizure-free with and without AEDs. CONCLUSIONS: Children with incomplete resection and epileptic discharges on postoperative EEG are at a high risk of seizure recurrence after drug withdrawal. Complete resection of FCD may lead to a favorable surgical outcome and successful AED withdrawal after surgery.

A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation.A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L).We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

Paroxysmal Dyskinesia in Children: from Genes to the Clinic

BACKGROUND AND PURPOSE: Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children. METHODS: Fifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED). We sequenced PRRT2, SLC2A1, and MR-1 in these patients and reviewed their medical records. RESULTS: Forty patients were categorized as PKD, 14 as PNKD, and 1 as PED. Thirty-eight (69.1%) patients were male, and their age at onset was 8.80±4.53 years (mean±SD). Dystonia was the most common symptom (38 patients, 69.1%). Pathogenic variants were identified in 20 patients (36.4%): 18 with PRRT2 and 2 with SLC2A1. All of the patients with PRRT2 mutations presented with PKD alone. The 2 patients carrying SLC2A1 mutations presented as PNKD and PED, and one of them was treated effectively with a ketogenic diet. Six mutations in PRRT2 (including 2 novel variants) were identified in 9 of the 13 tested families (69.2%) and in 8 patients of the 25 tested sporadic cases (32.0%). There were no significant differences in clinical features or drug response between the PRRT2-positive and PRRT2-negative PKD groups. CONCLUSIONS: This study has summarized the clinical and genetic heterogeneity of paroxysmal dyskinesia in children. We suggest that pediatric paroxysmal dyskinesia should not be diagnosed using clinical features alone, but by combining them with broader genetic testing.

Anti-inflammatory, Antioxidant and Antimicrobial Effects of Artemisinin Extracts from Artemisia annua L

The anti-inflammatory, antioxidant, and antimicrobial properties of artemisinin derived from water, methanol, ethanol, or acetone extracts of Artemisia annua L. were evaluated. All 4 artemisinin-containing extracts had anti-inflammatory effects. Of these, the acetone extract had the greatest inhibitory effect on lipopolysaccharide-induced nitric oxide (NO), prostaglandin E2 (PGE2), and proinflammatory cytokine (IL-1beta , IL-6, and IL-10) production. Antioxidant activity evaluations revealed that the ethanol extract had the highest free radical scavenging activity, (91.0+/-3.2%), similar to alpha-tocopherol (99.9%). The extracts had antimicrobial activity against the periodontopathic microorganisms Aggregatibacter actinomycetemcomitans, Fusobacterium nucleatum subsp. animalis, Fusobacterium nucleatum subsp. polymorphum, and Prevotella intermedia. This study shows that Artemisia annua L. extracts contain anti-inflammatory, antioxidant, and antimicrobial substances and should be considered for use in pharmaceutical products for the treatment of dental diseases.

Acute Ecthyma Caused by Serratia marcescens in a Patient with Diabetes Mellitus / 대한피부과학회지

Despite their existence all around, primary cutaneous infections caused by Serratia marcescens are still fairly rare. In many cases, symptoms caused by S. marcescens usually manifest as opportunistic infections in pulmonary, urinary and digestive organs of immunocompromised patients. It is unusual to find manifestations as "primary" cutaneous infection. A 56-year-old woman presented to our hospital with ulcerative skin lesions. She had a medical history of poorly controlled diabetes mellitus for 5 years. Multiple nodules and ulcerative lesions of various sizes were distributed on the abdomen, both buttocks and thighs. Two biopsy samples revealed deep dermal and subcutaneous suppurative inflammation. Two culture samples from the skin biopsy sites demonstrated S. marcescens. Small-to-medium sized lesions showed improvements with antibiotic treatment for 14 days. However, for large sized lesions, partial-thickness skin grafts were done.

Halo Nevi and Vitiligo in Turner's Syndrome / 대한피부과학회지

Turner's syndrome (TS) is a genetic disorder caused by numeric and/or structural abnormalities of the X chromosome. It is characterized by a short stature, gonadal dysgenesis, and frequently by webbed neck, cubitus valgus, lymphedema, broad chest with wide spaced nipples, micrognathia, and brachimetacarpalia. Several cutaneous manifestations are associated with TS, including melanocytic nevi, hypertrophic scarring, and vitiligo. Rarely reported findings include hemangiomas, angiokeratomas, and halo nevi. We present a case of halo nevi and vitiligo in a 13-year-old girl with TS. To the best of our knowledge, halo nevi and vitiligo in TS has not been reported in the Korean literature.

Spindle Cell Xanthogranuloma with Congenital Onset / 대한피부과학회지

No abstract available.

Isolation of the Causative Microorganism and Antimicrobial Susceptibility of Impetigo / 대한피부과학회지

BACKGROUND: Impetigo is a common bacterial infection caused by Staphylococcus aureus, and group A beta-hemolytic Streptococcus or both. Recently, S. aureus has been reported as the most frequently isolated pathogen of impetigo and the incidence of methicillin-resistant S. aureus (MRSA) among patients with impetigo has increased. OBJECTIVE: To investigate the predominant microorganism and the antibiotic susceptibility of the impetigo causative pathogen. METHODS: Bacterial culture and antimicrobial susceptibility testing were performed in patients with impetigo from June 2006 to May 2012. RESULTS: Of 164 patients, bacteria were cultured from 139 patients. Among them, S. aureus was isolated from 114 (82%) patients. The others were Acinetobacter baumannii, Enterobactercloacae, Enterococcus species, Enterococcus faecium, Enterococcus faecalis, Klebsiella oxytoca, and Candida albicans. The resistance rates of S. aureus against antibiotics were as follows: penicillin, 95.6%; erythromycin, 43.9%; fusidicacid, 38.1%; clindamycin, 24.5%; gentamycin, 21%; tetracycline, 12.3%; trimethoprim-sulfamethoxazole, 0.9%; ciprofloxacin, 0%; habekacin, 0%; linezolid, 0%; teicoplanin, 0%; and vancomycin, 0%. Thirty-four (29.8%) S. aureus isolates were MRSA, and the prevalence of MRSA increased during the 6-year period. CONCLUSION: The most predominant pathogen in impetigo was S. aureus, which was sensitive to ciprofloxacin, habekacin, linezolid, trimethoprim-sulfamethoxazole, teicoplanin, and vancomycin. An increase in the prevalence of MRSA was observed during the 6-year period, and the effective antibiotics for MRSA were trimethoprim-sulfamethoxazole, teicoplanin and vancomycin.

Sparganosis in a Child / 대한피부과학회지

No abstract available.

Neutrophilic Dermatosis of the Dorsal Hands / 대한피부과학회지

Neutrophilic dermatosis of the dorsal hands (NDDH) is a rare, localized variant of Sweet syndrome, and it was first described by Galaria et al. in 2000. It usually occurs in middle-aged women and it is characterized by erythematous papules, plaques, pustules and hemorrhagic bullae that are generally located on the dorsal hands. The histopathological findings show prominent papillary dermal edema and a dense dermal neutrophilic infiltration. A neutrophilic infiltrate can also cause a variable degree of vascular damage: endothelial cell swelling, RBC extravasation, leukocytoclasia and fibrin deposition within the walls of vessels. We report here on a case of NDDH in a 50-year-old man who was treated with oral corticosteroid and the NDDH recurred after 9 months.

Lichen Sclerosus et Atrophicus with Multiple Distribution and Hemorrhagic Change / 대한피부과학회지

Lichen sclerosus et atrophicus (LSA) is a benign, chronic inflammatory mucocutaneous disease of unknown etiology with a predilection for the female genital area, which is highly bothersome. It may also involve other areas, mainly the upper trunk, axillae and buttocks and clinicians often make a misdiagnosis of these extragenital lesions due to their rarity and lack of symptoms. We herein report the case of a 69-year-old female patient with multiple extragenital LSA presenting with hemorrhagic change. Histopathologic evaluation showed follicular plugging, atrophy of stratum malpighii with hydropic degeneration of basal cells, prominent upper dermal edema and lichenoid lymphocytic infiltration in the mid dermis which was consistent with LSA. We remind clinicians of including LSA in the differential diagnoses of multiple cutaneous hemorrhagic lesions.

Porokeratotic Eccrine Ostial and Dermal Duct Nevus Showing Partial Remission by Topical Photodynamic Therapy

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is an uncommon, benign dermatosis and is characterized by asymptomatic grouped keratotic papules and plaques with a linear pattern on the extremities. Various treatments, including topical steroids, topical calcipotriol, topical 5-fluorouracil, retinoid, cryotherapy, and carbon dioxide laser ablation have been tried for PEODDN, but the results were unsatisfactory. Recently, topical photodynamic therapy (PDT) has been shown to be effective for various cutaneous disorders. We report a case of PEODDN showing partial remission with PDT using topical 5-aminolevulanic acid in a 4-year-old girl.

Recurrent Gastric Cancer at the Duodenal Stump after Billroth II Subtotal Gastrectomy / 대한소화기내시경학회지

Many studies have shown that gastric stump cancer develops after distal gastrectomy, particularly after Billroth II reconstruction. But, recurrent cancer at the duodenal stump following Billroth II type distal gastrectomy for gastric cancer is extremely rare. We report a case of duodenal stump cancer in a 64-year-old man underwent Billroth II distal gastrectomy.

Cyst-like Combined Dermatofibroma: Aneurysmal and Atypical Variants / 대한피부과학회지

Dermatofibroma is a common benign fibrohistiocytic tumor that mainly presents as a brown papule or nodule. However, it can sometimes present with diverse clinical forms such as a cyst. Combined dermatofibroma is defined as a tumor that comprises two or more variants of dermatofibroma in a single lesion. We herein report on a case of combined dermatofibroma in a 40-year-old woman who presented with a cyst form on her lateral neck. The histological findings included the combined features of the aneurysmal and atypical variants of dermatofibroma such as cleft-like spaces with hemorrhage, some pleomorphic cells and multinucleated giant cells, as well as a feature of typical dermatofibroma.

No Changing Trends in Incidence of Gastric Cardia Cancer in Korea

Although there is a controversy, several reports have shown that gastric cardia cancer has tended upwards in recent years. The aim of this study was to investigate the changing trend of stomach cancer according to the location of cancer and histologic type in Korea, where is known to be one of the most prevalent areas for gastric cancer. All the patients newly diagnosed as gastric cancer from 1991 through 2000 were recruited in Hallym University Medical Center. The periods were divided into the first (1991 through 1995) and the second (1996 through 2000) period. We analyzed the characteristics of cancer in the aspects of age, sex, tumor locations (cardia and non-cardia), and tumor grade of differentiation (well, moderate, and poor differentiated type). The number of cases was 2,395 and that of cardia cancer was 158 (6.6%). There was no evidence about the changes in the incidence of cardia cancer and histologic differentiation between two periods. The development of cardia cancer was not associated with the factors of age and sex with having no difference in the point of tumor grade. We could not find an upward tendency of cardia cancer development in recent 10 yr in Korea.

Superficial Punctate Keratopathy after LASIK

PURPOSE: To evaluate the clinical characteristics of superficial punctate keratopathy following LASIK and to estabilish the management and prevention of superficial punctate keratopathy. METHODS: We retrospectively analyzed the medical records of 476 eyes followed up for more than 6 months after LASIK. RESULTS: Of the 476 eyes, the SPK has deveolped in 118 eyes (24.8%). The incidence was higher when there was a history of dry eye symptoms or contact lens intolerance (p<0.05%). In 68 eyes (57.6%), SPK has developed within 1 month after LASIK and the inferior cornea (85.6%) was the most frequently involved site. Most cases were asymptomatic and treated with preservative-free artificial tear solution. There were no visually significant complications. CONCLUSIONS: Corneal sensitivity decreases after LASIK by cutoff of the sensory innervation. As LASIK-induced neurotrophic epitheliopathy has an influence on tear film dynamics, it may be a possible cause of dry eye syndrome or epithelial keratopathy after LASIK. Careful attention should be taken into the contributing factors such as pre-existing dry eye syndrome, contact lens intolerance, previous history of blepharoplasty, lagopthalmos and so on. Adequate hydration of cornea preoperatively, careful manipulation during procedure, conservative treatment with artificial tears may be helpful in reducing symptoms and preventing further complications.

A Case of Primary Leiomyosarcoma of the Liver / 대한간학회지

Primary hepatic leiomyosarcoma is a very rare malignant tumor of the liver and rather slowly progressing disease. When the tumor is solitary or even multiple but located in one lobe, the treatment of choice is an operation. We report a case of huge leiomyosarcoma in a 58-year old female patient treated by surgical resection.

Esophageal Tuberculosis Mimicking Malignancy / 대한소화기내시경학회지

Pulmonary tuberculosis is still endemic in Korea, but esophageal tuberculosis, especially primary esophageal tuberculosis, is very rarely seen. A 76-year-old male is presented dysphagia. The clinical presentation, barium swallow study, and chest CT were suggestive of carcinoma of the esophagus. Findings that can suggest the diagnosis are enlarged lymph nodes, ulceration, and luminal narrowing. The major differential diagnosis was primary esophageal tuberculosis. This was not excluded on biopsy obtained at endoscopy. Operation was done for severe dysphagia and exclusion of malignancy. The patient was finally diagnosed as primary esophageal tuberculosis.

A case of early gastric cancer with IgA nephropathy and minimal change nephrotic syndrome / 대한내과학회지

The nephrotic syndrome has been reported in association with a wide variety of neoplastic disease. The relationship between early gastric cancer and glomerulonephritis has not been well elucidated. Only 6 cases (5 cases in Korea and 1 case in Japan) have been reported associated with glomerulonephritis by this time. 5 cases in Korea included three cases of membranous glomerulonephritis, one case of IgA nephropathy and membranoproliferative glomerulonephritis. Four out of six cases including presented case were mucin secreting adenocarcinomas of stomach. Minimal change disease associated with solid tumors has been reported very rarely. Three cases of colon adenocarcinoma have been reported in association with minimal change disease by this time. Complete remission of nephrotic syndrome with tumor resection without corticosteroid therapy was reported in one of three cases, but two of them had to be on corticosteroid therapy in addition to tumor resection to get complete remissions. We report a 44-year-old man case with nephrotic syndrome associated with early gastric cancer. Renal biopsy findings were indicative of minimal change disease but with scanty IgA deposition. Low grade IgA nephropathy was suggested. Endoscopic biopsy on stomach demonstrated the adenocarcinoma with signet ring cells. Serum IgA concentration was 543 mg/dL, and decreased to 336 mg/dL after tumor resection. But, owing to persistent proteinuria and acute renal failure complicated, corticosteroid therapy was applied on the 30th day after operation. So we could not prove definite relationship between early gastric cancer and the development of IgA nephropathy mimicking minimal change disease. But, it is regarded that normalized serum IgAlevel and the complete remission of nephrotic syndrome with tumor resection and corticosteroid therapy can be indirect evidences for the relationship between early gastric cancer and the development of IgA nephropathy mimicking minimal change disease.