No abstract available.
Fanconi Anemia*

No abstract available.
Child* ; Fatty Liver ; Humans ; Hypercholesterolemia ; Incidence* ; Obesity

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: Clinical trials have shown that b-adrenergic blocking drugs are effective and well tolerated in patients with mild to moderate congestive heart failure. Carvedilol is a mild b1-selective adrenergic blocking agent with vasodilating properties due to a blocker and antioxidant and anti-proliferative properties. This study assessed the efficacy and safety of carvedilol in patients with moderate to severe congestive heart failure caused by idiopathic dilated cardiomyopathy. METHODS: We enrolled 27 patients with moderate to severe congestive heart failure with a left ventricular ejection fraction of 35% by MUGA scan. Each patient was randomly assigned to either control (n-9) or carvedilol (n-18, target dose 25 mg bid) for 6 months while background therapy with digoxin, diuretics, and ACE inhibitor remained constant. RESULTS: Compared to the control group, patients in the carvedilol group showed significant increase of left ventricular ejection fraction (p<0.05). In addition, patients in the carvedilol group had a tendency to show a decrease in left ventricular end-diastolic dimension and heart rate. Also, the carvedilol group had a greater frequency of symptomatic improvement than the control group. There was neither serious side effects nor hospitalization. CONCLUSION: These finding indicate that carvedilol produces important clinical benefits in patients with moderate to severe heart failure treated with digoxin, diuretics, and ACE inhibitor without serious side effects.
Cardiomyopathy, Dilated ; Digoxin ; Diuretics ; Heart Failure* ; Heart Rate ; Hospitalization ; Humans ; Stroke Volume

PURPOSE: To evaluate the clinical outcome after the over-the-top augmentation with ABC synthetic lig-ament for the treatment of acute rupture of anterior cruciate ligament at least two years follow up. MATERIALS AND METHODS: From January 1992, authors have treated acute rupture of ACL with this method on 91 cases. Among these, 46 cases were available for full data acquisition. At the last follow-up, clinical results were analyzed subjectively and objectively by Lachman, pivot shift test and presence of joint effusion. Functional evaluation was performed by various knee ligament scoring systems and the side-to-side differences were measured with KT-2000 arthrometer. RESULTS: On Lachman test, 82.7% were under grade I&II; grade 0 : 17 cases(37%), grade I: 21 cases(45.7%), grade III: 8 cases(17.3%). 89.3% were under grade 0 & Ion pivot shift test. On measure-ment of side-to-side difference, 25 cases(54.3%) were showed difference less than 3 mmand the differences of 16 cases(34.8%) were 3~5 mm. On six cases joint effusions were present. Among these six cases, four cases were accompanied by anterior instability which were brought to second look arthroscopy. Two cases were treated with several times of aspiration and steroid instillation. The one case was failed its continuity which solved with ACL reconstruction with patellar bone-tendon-bone autograft. The other three cases showed only lax ACL which was cared with retightening of ligament at the femoral attach-ment site. At the last follow up, 37 cases(80.4%) were resulted excellent and good on Lysholm score and 41 cases(89.1%) were group A & B on IKDC score. On Tegner scale, 34 cases(73.9%) were above five point. CONCLUSIONS: Authors suggest this over-the-top augmentation of ACL with synthetic polyester ligament would be good treatment option with several advantages; early rehabilitation is possible to get maximal function of knee and no tunnel in the lateral condyle would be good for late ACL reconstruction even though failure of this artificial ligament.
Anterior Cruciate Ligament* ; Arthroscopy ; Autografts ; Follow-Up Studies ; Joints ; Knee ; Ligaments* ; Polyesters ; Rehabilitation ; Rupture*

Phenylketonuria is metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production or recycling of tetrahydrobiopterin (BH4). The reduction of BH4 affects not only phenylalanine metabolism but also formation of the tyrosine related neurotransmitter, dopamin and tryptophan related neurotransmitter, serotonin. Administration of L-dopa and 5-hydroxytriptophan seems to be the most effective treatment and may prevent irreversible neurologic damage if started early in life in hyperphenylalaninemia due to deficiency of cofactor BH4. Therefore, all patients with PKU and hyperphenylalaninemia should be tested for BH4 deficiency as early as passible. So we measured reduced forms of biopterin in urines of 19 phenylketonuria patients by Funkushima and Nixon method and 13 of PKU patients measured dihydropterin reductase (DHPR) in white blood cells by modified Narisawa method. We could not find abnormal pterin patterns of cofactor BH4 and normal value of DHPR. All Korean 19 PKU children were classic PKU. A missense mutation has been identified in the phenylalanine hydroxylase (PAH) gene of 16 Koran PKU patients. 5 mutations (IVS4, Y204 C, R243Q, Y356 X, R413 P) have been identified. The frequency of these mutations was found to be 50% of PKU alleles. The IVS4 mutation had a high frequency in Korea and southern China, due to the result of the founder effect and genetic drift. the R413 P mutation, which may have originated in the regions surrounding the Baikal, expanded to northen China and Japan. We were not able to find Caucasian mutations in Korean ptiets. PKU mutations occured after racial divergence between Caucasian and Mongoloids. We observed that PKU patients with Y 204 C and R413 P mutations showed mild mild clinical phenotype but IVS4 mutation had severe mental retardation. the establishment of genotype will therefore aid in the prediction of clinical phenotypes in patients with this disease. So, pterin and DHPR measurement and DNA analsis will be useful for prognosis and proper treatment of PKU patients.
Alleles ; Biopterin ; Child ; China ; DNA* ; Founder Effect ; Genetic Drift ; Genotype ; Humans ; Intellectual Disability ; Japan ; Korea ; Leukocytes ; Levodopa ; Metabolism ; Mutation, Missense ; Neurotransmitter Agents ; Oxidoreductases ; Phenotype ; Phenylalanine ; Phenylalanine Hydroxylase ; Phenylketonurias ; Prognosis ; Recycling ; Reference Values ; Serotonin ; Tryptophan ; Tyrosine

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*

No abstract available.
Phenylketonurias*

No abstract available.
Herpes Zoster* ; Infertility*

No abstract available.
Osteogenesis Imperfecta* ; Osteogenesis*