PURPOSE: Fragile X syndrome is an X-llinked genetic disorder and is characterized by mental retardation, learning disability, behavior disorder, and autism with typical elongated face, large ears, and macro-orchidism. Recent reports have focused attention on the EEG finding of this syndrome, which is a particular paroxysmal pattern during sleep (mono or diphasic centrotemporal spikes) and awake state (background slowing). In this study, we analyzed the clinical characteristics of fragile X syndrome patients and observed whether a particular EEG pattern is associated with this syndrome or not. METHODS: 7 cases of fragile X syndrome, diagnosed at Sowha Children's Hospital and Cha General Hospital from August 1993 to February 1995, were analyzed retrospectively in terms of typical phenotypes and clinical & EEG characteristics. The patients were diagnosed by Southern blotting and polymerase chain reaction (PCR) method. RESULTS: 1) The subjects were all male and the mean age was 5.8 years old (2Y-11Y). 2) Typical phenotype of long elongated face, macro-orchidism, large ears, and large head are noted in 2/3 of the subject. 3) Developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism are noted in 2/3 of the subject. 4) Seizure is noted in one case and EEG was performed in 6 cases, regardless of the presence of seizures. Abnormal findings including centrotemporal sharps and background slowing are noted in one case, each. 5) By molecular diagnostic methods including Southern blotting and PCR, 3 cases of affected male and 4 of normal transmitting male were diagnosed. CONCLUSIONS: 1) The typical phenotype of fragile X syndrome is long elongated face, macro-orchidism, large ears and large head. 2) The non-physical characteristics of fragile X syndrome are developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism. 3) The characteristic EEG findings of fragile X syndrome known by literature are noted in 2 among 6 cases, which means the specificity is high even though the sensitivity is low. This allows us to propose this EEG pattern as an important "marker" in the diagnosis of fragile X syndrome. However, the number of the subject is too small to conclude now. Further accumulation of cases is reguired.
Autistic Disorder ; Blotting, Southern ; Diagnosis ; Ear ; Electroencephalography* ; Fragile X Syndrome* ; Head ; Hospitals, General ; Humans ; Intellectual Disability ; Learning Disorders ; Male ; Pathology, Molecular ; Phenotype ; Polymerase Chain Reaction ; Retrospective Studies ; Seizures ; Sensitivity and Specificity

The vein of Galen malformation is a rare midline intracranial arteriovenous malformation. The majority of themalformations were seen in neonate, infancy and childhood, and the clinical symptoms and prognosis depended on ageof presentation. The authors report a case of the vein of Galen malformation in 17 month-old female withhydrocephalus, which is confirmed by CT and digital subtraction angiography.
Angiography, Digital Subtraction ; Cerebral Veins ; Female ; Humans ; Infant, Newborn ; Intracranial Arteriovenous Malformations ; Prognosis ; Veins

Slipped capital femoral epiphysis is a rare hip disorder that mainly occurs in pubertal children. Although the exact cause of this disorder is unknown, it is known to be associated with obesity, trauma, delayed sexual development, delayed bone maturation, chronic renal failure, genetic diseases, endocrine disorders (growth hormone deficiency, hypothyroidism, hypogonadism), growth hormone therapy, and gonadotropin releasing hormone agonist (GnRH agonist) therapy. We report 2 cases of slipped capital femoral epiphysis in adolescent females who were receiving growth hormone therapy. The first case is of a 16 year-old-girl with chronic renal failure and renal osteodystrophy. The second case is of an 11 year-old-girl with idiopathic precocious puberty who had received GnRH agonist and growth hormone therapy. Unilateral or bilateral slipped capital femoral epiphysis developed at 1 year 3 months after treatment in both the cases. The chief complaints were pain in the hip joint and lower extremities. Growth hormone and/or GnRH agonist therapy was stopped, and in situ screw fixations of the involved hip epiphyses were performed.
Adolescent ; Child ; Endocrine System Diseases ; Epiphyses ; Female ; Gonadotropin-Releasing Hormone ; Growth Hormone ; Hip ; Hip Joint ; Humans ; Hypothyroidism ; Kidney Failure, Chronic ; Lower Extremity ; Obesity ; Puberty, Precocious ; Renal Osteodystrophy ; Sexual Development ; Slipped Capital Femoral Epiphyses

PURPOSE: We assessed the relationships between iron and vitamin D statuses in breastfed infants and their mothers and evaluated the determinants of iron and vitamin D deficiencies in breastfed infants. METHODS: Seventy breastfed infants aged 4-24 months and their mothers participated in this study from February 2012 to May 2013. Complete blood counts, total iron binding capacity, and levels of C-reactive protein, iron, ferritin, calcium, phosphate, alkaline phosphatase, and 25-hydroxyvitamin D (25(OH)D) in infants and their mothers were measured. RESULTS: A history of maternal prepregnancy anemia was associated with lower ferritin and 25(OH)D levels in both infants and their mothers. The 25(OH)D level of infants correlated with maternal 25(OH) D levels. The independent risk factors for iron deficiency in breastfed infants were the duration of breastfeeding (odds ratio [OR], 6.54; 95% confidence interval [CI], 1.09-39.2; P=0.04) and infant body weight (OR, 2.65; 95% CI, 1.07-6.56; P=0.04). The determinants for vitamin D deficiency were the infant's age (OR, 0.15; 95% CI, 0.02-0.97; P=0.046) and maternal 25(OH)D level (OR, 0.74; 95% CI, 0.59-0.92; P=0.01). CONCLUSION: A maternal history of prepregnancy anemia requiring iron therapy was associated with lower current ferritin and 25(OH)D levels in both infants and their mothers. Therefore, physicians should monitor not only iron but also vitamin D levels in infants who are breastfed by mothers who had prepregnancy anemia.
Alkaline Phosphatase ; Anemia ; Anemia, Iron-Deficiency ; Blood Cell Count ; Body Weight ; Breast Feeding ; C-Reactive Protein ; Calcium ; Ferritins ; Humans ; Infant Nutrition Disorders ; Infant* ; Iron* ; Mothers* ; Risk Factors ; Vitamin D Deficiency ; Vitamin D* ; Vitamins*

No abstract available.
Preimplantation Diagnosis*

Human-derived materials are a crucial element of research in the life sciences. The Korea Biobank Network (KBN) portal is a shared open platform that provides the nationʼs most extensive disease resources, possessed by Human Bioresource Unit Banks of the KBN, to the public, including those in the fields of industry, academia, and research.This platform was developed to increase the efficient use of national disease resources. In the KBN portal, the current status of disease resources collected in Korea can be checked online. Human bioresources and clinical information are provided to consumers through systematic search and efficient distribution programs. Additionally, by simultaneously operating the KBN Distribution Support Center, we are working to support the rapid and convenient distribution of human resources in response to the needs of consumers. To effectively utilize the open human bioresource sharing platform, it is necessary to introduce an integrated clinical information management system. Currently, the KBN is in the process of establishing standard terminology for data and applying a common data model for the integrated management of various clinical information held by the KBN. We provide communications through the KBN portal, which is interconnected with the distribution support center, regional biobanks, and consumers. In conclusion, the KBN portal will provide open innovation by creating a business or service model by delivering shared open data and internalizing external innovative capabilities.

Roughly one third of medical problems in children are related to the musculoskeletal system. Most of these problems are common and can be precisely diagnosed. For these problems, nonoperative treatment or reassurance can be given by the pediatrician. Occasionally, a problem needs surgical treatment, but a precise diagnosis must be made. There is little agreement about what types of orthopedic problems a primary care pediatrician should understand in order to effectively care for children. Many pediatric residencies lack an organized teaching curriculum that effectively covers these topics or that includes a required pediatric orthopedic rotation. In this article the authors delineate pediatric orthopedic problems that require recognition and urgent surgical treatment and are relatively common, but have different treatment options (observation, conservative treatment, and surgery) depending on their natural history. Whenever possible, the diagnosis should be made before a decision to refer is made. An accurate diagnosis allows the pediatrician to discuss the natural history of the condition properly. Referral to the wrong specialty can needlessly generate expensive tests and further delay in treatment or generate inappropriate treatment. The parents can be reassured rather than waiting to hear the same information from another physician. In particular, orthopedic problems are known to generate pressure from the parents to seek specialty consultation for reassurance. It is important to communicate to the specialist that the reason for the referral is for parental reassurance rather than for further work-up or treatment. After a proper diagnosis, communication directly between the pediatrician and the appropriate specialist can often avoid an unnecessary referral, and avoid unnecessary tests. The authors reviewed our experience at our outpatient clinic over last 1 year and found that it is useful to classify conditions as common or uncommon, and whether they require surgical or nonsurgical treatment. Many conditions fall in between. The following is a discussion of some of these more important or common conditions.
Ambulatory Care Facilities ; Child ; Curriculum ; Humans ; Internship and Residency ; Musculoskeletal System ; Natural History ; Orthopedics ; Outpatients ; Parents ; Primary Health Care ; Referral and Consultation ; Specialization

BACKGROUND: The goals of this study are to evaluate the propensity to depression in Korean internet users associated with internet using environment and attempt to aid proper management of internet users in the field of family practice. METHODS: A group of 1,674 subjects who replied to internet research were selected from March 26 to 28, 1999. Making use of CES-D-K for Korean internet users, we investigated the propensity to depression. At the same time, general characteristics, internet using environmental characteristics were investigated and their relationship was assssed. RESULTS: The CES-D-K score was 16.19. The CES-D-K score was significantly higher in females, in younger age and low education level group(P<0.001). There was no significance between CES-D-K score and region. In internet using environmental characteristics, the CES-D-K score was significantly higher in low velocity users, long internet using time per day group (P<0.001). There was no significance between CES-D-K score and internet using year. CONCLUSION: There was a significant correlation between internet using velocity, internet using time per day and the propensity to depression. Therefore, family physician should think about the correlation of the propensity to depression and internet using environment, if internet users have symptoms of depression.
Depression* ; Education ; Family Practice ; Female ; Humans ; Internet* ; Physicians, Family

No abstract available.
Herpes Zoster* ; Infertility*

Prenatal diagnoses were performed in 145 fetuses resulting from 73 singleton and 36 twin pregnancies, all established by intracytoplasmic sperm injection (ICS: amniocentesis in 108 patients and Chorionic villus sampling in one. The prenatal cytogenetic results were obtained from pregnancies after ICSI using ejaculated spermatozoa, epididymal spermatozoa, testicular spermatozoa and after the replacement of frozen-thawed embryos derived from ICSI. The Karyotypes were normal in 138 cases (95.2%) of the prenatal diagnoses and there were 2 cases (1.4%) de novo and 5 cases (3.4%) inherited chromosomal aberrations. The two cases of de novo abnormalities were: 46, XY, t(6;7)(q21;p22) and 47, XY, +21 (trisomy 21).
Amniocentesis ; Chorionic Villi Sampling ; Chromosome Aberrations ; Cytogenetic Analysis* ; Cytogenetics* ; Embryonic Structures ; Female ; Fetus* ; Humans ; Karyotype ; Pregnancy ; Pregnancy, Twin ; Prenatal Diagnosis ; Sperm Injections, Intracytoplasmic* ; Spermatozoa*