No abstract available.
Neuroma*

9p Tetrasomy is rare chromosomal aberration that was described in approximately 30 previous patients in the world and this is the first described in Korea. Here we report a 3 month-old boy who was referred for genetic evaluation because of facial dysmorphism, such as wide fontanells, hypertelorism, bulbous nose, low set ears, cleft lip and palate. He had also psychomotor retardation and hypotonia. He was diagnosed as tetrasomy 9p syndrome by clinical feature and chromosomal study. Thereafter, increased growing of head size compared with body weight and height was observed and brain MRI shows hydrocephaly associated with remarkable hypertrophy of choroid plexus and mild Dandy Walker syndrome.
Body Weight ; Brain ; Choroid Plexus* ; Choroid* ; Chromosome Aberrations ; Cleft Lip ; Dandy-Walker Syndrome ; Ear ; Head ; Humans ; Hydrocephalus* ; Hypertelorism ; Hypertrophy* ; Infant ; Korea ; Magnetic Resonance Imaging ; Male ; Muscle Hypotonia ; Nose ; Palate ; Tetrasomy*

Aplasia cutis congenita is a congenital localized or widespread absence of the skin. We report a case of aplasia cutis congenita, type V, in a 6-day-old male infant born with the stellate and linear skin lesions covered by granulation tissue and soft capsule with slightly elevated erythematous edges on the trunk and lower extremities without any associated family history. The patient had amniotic bands and were diagnosed as aplasia cutis, type V. The patient received conservative treatment such as antiseptic dressing and prophylactic systemic antibiotics with healing of the ulcer.
Amniotic Band Syndrome ; Anti-Bacterial Agents ; Bandages ; Ectodermal Dysplasia* ; Granulation Tissue ; Humans ; Infant ; Infant, Newborn ; Lower Extremity ; Male ; Skin ; Ulcer

Background: The normal references for acetabular parameters are important for the diagnosis of hip diseases and planning of total hip arthroplasty. There are wide interindividual differences in acetabular morphology in the normal population, and little is known about differences in acetabular morphology in the average South Korean population. The purpose of this study was to evaluate side and sex differences in acetabular morphology in the South Korean population. Methods: The acetabular parameters, including anteversion angle, abduction angle, center-edge angle, acetabular width and depth, and acetabular-head index, were measured on three-dimensional computed tomography images in 197 healthy Korean adults. Differences in acetabular parameters according to side and sex were evaluated. Results: The mean acetabular anteversion angle of men and women was 17.3° ± 5.2° and 20.1° ± 3.5°, respectively. The mean acetabular width of men and women was 61.5 ± 4.6 cm and 56.5 ± 4.0 cm, respectively. There were significant sex differences in acetabular anteversion angle (p = 0.001) and acetabular width (p = 0.036) when adjusted for age, body height, and weight. The mean acetabular width of the right side and the left side was 60.2 ± 5.2 cm and 57.8 ± 4.5 cm, respectively. There were significant side differences in acetabular width (p = 0.007) when adjusted for age, body height, weight, and sex. Conclusions Differences and reference ranges of acetabular parameters are important for the diagnosis of acetabular deformity, such as femoroacetabular impingement and acetabular dysplasia. Moreover, these differences and reference ranges are useful for preoperative planning and safe positioning of acetabular components in total hip arthroplasty.

PURPOSE: Intractable diarrhea during infancy is one of the major causes of infant mortality. But, its etiology, clinical courses, or methods of treatment are not well known. Therefore, we conducted a clinical approach to intractable diarrhea during infancy. METHODS: We have retrospectively evaluated clinical characteristics, laboratory findings, methods of treatment, days required for recovery, in 23 infants who were admitted with intractable diarrhea, from January 1993 to December 1996. RESULTS: The onset age was 18.4 +/- 17.8 days and the duration of diarrhea was 28.8 +/- 16.5 days. All patients were fed artificial milk before the onset of diarrhea. The possible causes of diarrhea were infection (60.8%), change of milk, milk concentration (17.4%), or an unknown origin (21.8%). Laboratory findings on admission showed hemoglobin 9.5 +/- 2.2g/dL, serum albumin 2.9 +/- 0.7g/dL. E. coli was cultured in urine in 1 case. Stool rotavirus antibody was positive in 1 case. Nineteen patients (82.6%) required total parenteral nutrition for 18.3 +/- 13.6 days and antibiotics were administered to 20 patients (86.9%). Twenty-two patients (95.7%) were fed special element formula milk. All but one who died of necrotizing enterocolitis, recovered. Special element fomula milk was used for 92.6 +/- 20.5 days after discharge, and there were no cases of recurrence. CONCLUSION: We considered appropriate oral element fomulas, total parenteral nutrition and the proper treatment of infection as important factors in future outcome of intractable diarrhea during infancy. We thought the short-term administration of special formula milk can be substituted for normal milk or a weaning diet. However, encouraging breast feeding may perhaps be a more effective way of preventing this problem.
Age of Onset ; Anti-Bacterial Agents ; Breast Feeding ; Diarrhea* ; Diet ; Enterocolitis, Necrotizing ; Humans ; Infant ; Infant Mortality ; Milk ; Parenteral Nutrition, Total ; Recurrence ; Retrospective Studies ; Rotavirus ; Serum Albumin ; Weaning

PURPOSE: Intractable diarrhea during infancy is one of the major causes of infant mortality. But, its etiology, clinical courses, or methods of treatment are not well known. Therefore, we conducted a clinical approach to intractable diarrhea during infancy. METHODS: We have retrospectively evaluated clinical characteristics, laboratory findings, methods of treatment, days required for recovery, in 23 infants who were admitted with intractable diarrhea, from January 1993 to December 1996. RESULTS: The onset age was 18.4 +/- 17.8 days and the duration of diarrhea was 28.8 +/- 16.5 days. All patients were fed artificial milk before the onset of diarrhea. The possible causes of diarrhea were infection (60.8%), change of milk, milk concentration (17.4%), or an unknown origin (21.8%). Laboratory findings on admission showed hemoglobin 9.5 +/- 2.2g/dL, serum albumin 2.9 +/- 0.7g/dL. E. coli was cultured in urine in 1 case. Stool rotavirus antibody was positive in 1 case. Nineteen patients (82.6%) required total parenteral nutrition for 18.3 +/- 13.6 days and antibiotics were administered to 20 patients (86.9%). Twenty-two patients (95.7%) were fed special element formula milk. All but one who died of necrotizing enterocolitis, recovered. Special element fomula milk was used for 92.6 +/- 20.5 days after discharge, and there were no cases of recurrence. CONCLUSION: We considered appropriate oral element fomulas, total parenteral nutrition and the proper treatment of infection as important factors in future outcome of intractable diarrhea during infancy. We thought the short-term administration of special formula milk can be substituted for normal milk or a weaning diet. However, encouraging breast feeding may perhaps be a more effective way of preventing this problem.
Age of Onset ; Anti-Bacterial Agents ; Breast Feeding ; Diarrhea* ; Diet ; Enterocolitis, Necrotizing ; Humans ; Infant ; Infant Mortality ; Milk ; Parenteral Nutrition, Total ; Recurrence ; Retrospective Studies ; Rotavirus ; Serum Albumin ; Weaning

BACKGROUND: This study was performed to evaluate the incidence and clinical characteristics of symptomatic pneumothorax in the full-term neonate. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 32 symptomatic pneumothorax patients in the full term neonates who admitted to the neonatal intensive care unit in Ulsan Dong Kang General Hospital from January, 2000 to December, 2004. The subjects were divided into two groups according to underlying causes; spontaneous pneumothorax group and secondary pneumothorax group, then each clinical characteristics were assessed. RESULTS: Spontaneous pneumothorax patients were 10 (31%) and secondary pneumothorax patients were 22 (69%). Overall incidence of spontaneous pneumothorax was 0.4%. Most common cause of secondary pneumothorax was pneumonia. Twelve cases (54.5%) among secondary pneumothorax patients were associated with mechanical ventilator care. Clinical characteristics, courses and managements were similar between two groups, but more shorter duration of admission and chest-tube insertion in spontaneous pneumothorax group CONCLUSION: The patient with symptomatic pneumothorax needs careful observation and proper management with or without underlying respiratory diseases
Hospitals, General ; Humans ; Incidence ; Infant, Newborn* ; Intensive Care, Neonatal ; Medical Records ; Pneumonia ; Pneumothorax* ; Retrospective Studies ; Ulsan ; Ventilators, Mechanical

PURPOSE: The purpose of the study was to evaluate the relationship between the location of bone signalabnormality and associated injury, as seen on MR, in patients with acute knee joint injury. MATERIALS AND METHODS: Thirty-six patients with acute knee injury and bone signal abnormalities on MR were included in this study. Thefemur and tibia were each divided into six compartments, namely the anteromedial, medial, posteromedial,anterolateral, lateral, and posterolateral ; these were obtained in each knee joint. We evaluated the location ofbone signal abnormality and the corresponding arthroscopic or operative findings of injury to ligaments andmenisci. Cases with signal abnormalities involving more than three compartments were excluded. RESULT: Bonesignal abnormalities were demonstrated in 51 compartments. Most(84%, 43/51) were noted in the lateral half of theknee joint, the most common location being the tibio- posterolateral compartment(13/51). The femoro-lateral(11/51) and tibio- anterolateral compartment(8/51) were the next most common locations. All cases(13/13)with bone signal abnormality in the tibio- posterolateral compartment had tears at the anterior cruciate ligament,while 9 of 11 cases(81%) with abnormality in the femoro- lateral compartment had tears at the anterior cruciateligament. Six of eight cases(75%) with signal abnormality in the tibio- anterolateral compartment had tears at theposterior cruciate ligament ; 31 of 43 cases (72%) with abnormality in the lateral half of the knee joint hadtears at the medial collateral ligament. Six of eight cases(75%) with signal abnormality in the medial half of theknee joint had tears at the medial meniscus, but no lateral meniscal tear was found. Among patients with signalabnormality in the lateral half of the knee joint, the tear was lateral meniscal in nine of 43 cases(21%) andmedial meniscal in six of 43(14%). CONCLUSION: The location of bone signal abnormality, as seen on knee MR, inpatients with acute knee joint injury could be an important finding suggesting associated injury.
Collateral Ligaments ; Humans ; Inpatients ; Joints ; Knee Injuries ; Knee Joint* ; Knee* ; Ligaments ; Magnetic Resonance Imaging* ; Menisci, Tibial ; Tibia

Lynch syndrome is also called Hereditary nonpolyposis colorectal cancer (HNPCC). It is characterized by a risk of colorectal cancer and other cancers of the endometrium, ovary, stomach, small intestine etc. The increased risk is due to inherited mutations that impaired DNA mismatch repair. Two to three percentage of colon cancer is caused by Lynch syndrome. A family history of colon cancer occurs at a young age. We experienced one case of Lynch syndrome who had had stomach cancer, endometrial cancer and colon cancer recently. Hence we report this case with a brief review of literature.
Colonic Neoplasms ; Colorectal Neoplasms ; Colorectal Neoplasms, Hereditary Nonpolyposis ; DNA Mismatch Repair ; Endometrial Neoplasms ; Endometrium ; Female ; Humans ; Intestine, Small ; Ovary ; Stomach ; Stomach Neoplasms

PURPOSE: Chemokines are potent regulators of the host inflammatory or immune responses. Mucosal synthesis of chemokines may be important in the pathogenesis of mucosal inflammation in ulcerative colitis (UC). We performed this study to investigate the expression of C-X-C chemokine genes in UC. METHODS: Mucosal tissues were obtained from six normal controls and six UC patients by endoscopic biopsies. In patients with UC, mucosal tissues were separately obtained from both involved and uninvolved regions. RNA was extracted and mRNA levels of five C-X-C chemokines were determined by quantitative reverse transcription-PCR using internal RNA standards. RESULTS: Mucosal mRNA levels of all chemokines tested increased in the involved region of UC compared with the uninvolved region of UC or normal controls. CONCLUSION: Our data suggest that mucosal expression of C-X-C chemokines contributes to the pathogenesis of UC
Biopsy ; Chemokines ; Chemokines, CXC ; Colitis, Ulcerative* ; Colon* ; Humans ; Inflammation ; Mucous Membrane* ; RNA ; RNA, Messenger ; Ulcer*