BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS: Nine Korean patients from eight unrelated families with GSD Ib were included. SLC37A4 mutations were detected in all patients with direct sequencing using a PCR method and/or whole-exome sequencing. A comprehensive review of previously reported SLC37A4 mutations was also conducted. RESULTS: Nine different pathogenic SLC37A4 mutations were identified in the nine patients with GSD Ib. Among them, four novel mutations were identified: c.148G>A (pGly50Arg), c.320G>A (p.Trp107*), c.412T>C (p.Trp138Arg), and c.818G>A (p.Gly273Asp). The most common mutation type was missense mutations (66.7%, 6/9), followed by nonsense mutations (22.2%, 2/9) and small deletion mutations (11.1%, 1/9). The most common mutation identified in the Korean population was c.443C>T (p.Ala148Val), which comprised 39.9% (7/18) of all tested alleles. This mutation has not been reported in GSD Ib patients in other ethnic populations. CONCLUSIONS: This study expands knowledge of the SLC37A4 mutation spectrum in Korean patients with GSD Ib.
Alleles ; Codon, Nonsense ; Diagnosis ; Glycogen Storage Disease* ; Glycogen* ; Humans ; Methods ; Mutation, Missense ; Polymerase Chain Reaction ; Sequence Deletion

Double eyelid operation is one of the most common aesthetic surgical procedure performed in Korea. In correlation with the cultural background and social changes, most patients prefer a nonincision method rather than an incision method at the present. Forty-two consecutive patients were operated on for creation of double eyelids, with the subconjunctival buried suture method through conjunctival approach, from June of 1999 to September of 2000. The choice of procedure was based on the age of the patient and the amount of subcutaneous fat and redundant skin. This method was especially advisable if the young patient wants not to leave any visible scar and rapid recovery. The follow-up period ranged from two months to one year. Of forty-two patients undergoing this procedure, three patients(7.1%) required reoperation because of asymmetry, disappearance of fold, and irrtation respectively. This method is similar to various ordinary nonincisional methods previously described except for subconjunctival buried suture. But authors could obtain better cosmetic result with the advantage of shorter operation time, less morbidity, no scarring, and natural look earlier in the appropriate candidates.
Cicatrix ; Eyelids* ; Follow-Up Studies ; Humans ; Korea ; Reoperation ; Skin ; Social Change ; Subcutaneous Fat ; Sutures*

Secretory carcinoma is one of the least common forms of breast cancer and demonstrates distinctive clinical and pathological characteristics. We herein report a case of secretory carcinoma of the breast in 3 year and 1 month-old girl. At presentation, the patient had a 2.5cm sized mass on her left breast which was firmly attached to the overlying nipple. The aspiration cytologic findings of the tumor were consistent with a secretory carcinoma. After confirming malignancy by frozen section diagnosis, a modified radical mastectomy was performed and secretory carcinoma was finally diagnosed. To our knowledge, secretory breast carcinoma in children has not been reported previously in Korea and this seems to be the youngest case of secretory carcinoma of the breast which had been reported in English literature.
Breast Neoplasms ; Breast* ; Child ; Diagnosis ; Female* ; Frozen Sections ; Humans ; Infant, Newborn ; Korea ; Mastectomy, Modified Radical ; Nipples

Secretory carcinoma is one of the least common forms of breast cancer and demonstrates distinctive clinical and pathological characteristics. We herein report a case of secretory carcinoma of the breast in 3 year and 1 month-old girl. At presentation, the patient had a 2.5cm sized mass on her left breast which was firmly attached to the overlying nipple. The aspiration cytologic findings of the tumor were consistent with a secretory carcinoma. After confirming malignancy by frozen section diagnosis, a modified radical mastectomy was performed and secretory carcinoma was finally diagnosed. To our knowledge, secretory breast carcinoma in children has not been reported previously in Korea and this seems to be the youngest case of secretory carcinoma of the breast which had been reported in English literature.
Breast Neoplasms ; Breast* ; Child ; Diagnosis ; Female* ; Frozen Sections ; Humans ; Infant, Newborn ; Korea ; Mastectomy, Modified Radical ; Nipples

As modern society becomes increasingly complex, there has been a steady increase in violence, as well as in automobile and industrial accidents. This has resulted in an increased incidence of facial injuries, including mandibular fractures. Many methods have been advocated to achieve reestablishment of normal feature and function. The choice generally depends upon such factors as location of the fractures, displacements, status of the dentition and favorability of the fracture line. Many cases of mandibular fracture are treated by intermaxillay fixation using an arch bar or bite block(acrylic splint)for rapid bone union and minimal displacement. However, there had been some problems, such as discomfort to patients, limitation to eating and weight loss, poor oral hygiene, and temporomandibular joint ankylosis. As a consequence, we have modified the shape of the acrylic splint and method of fixation for circum-mandibular fixation instead of intermaxillary fixation. Acrylic splints are rigid, strong, easily adjusted and repaired, translucent, lightweight and well tolerated by the oral mucosa. The splints are properly secured to each tooth and bind all the teeth together as a single unit. Authors have used modified acrylic splints as tools of circum-mandibular fixation in 12 cases of mandibular symphysis and body fracture from May 1997 to August 1998, achieving the results of very good occlusal relationship, oral hygiene and comfort to patients.
Accidents, Occupational ; Ankylosis ; Automobiles ; Dentition ; Eating ; Facial Injuries ; Humans ; Incidence ; Mandibular Fractures* ; Mouth Mucosa ; Oral Hygiene ; Splints* ; Temporomandibular Joint ; Tooth ; Violence ; Weight Loss