Chondrodysplasia Punctata is a rare congenital disorder of bone in infant, which is characterized by radiographic manifestation of premature deposition of punctata calcific density in epiphyseal areas, preformed in cartilage. Chondrodysplasia Punctata includes two different disorders: a rhizomelic, potentially lethal variety and a nonrhizomelic variety (Conradi-Hunermann syndrome) which is more common and generally benign. These two conditions have different clinical, genetic, and radiographic characteristics. We experienced a case of rhizomelic Chondrodysplasia Punctata (RCDP) in a fetus of intrauterine pregnancy at 19 weeks who was terminated because of ultrasonographic demonstration of gross skeletal and midfacial anomaly. Thus, we report a case with brief review of the literature.
Cartilage ; Chondrodysplasia Punctata* ; Chondrodysplasia Punctata, Rhizomelic ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Fetus ; Humans ; Infant ; Pregnancy

PURPOSE: This study was conducted to adapt the standardized evidence-based nursing protocol using the IPC (intermittent pneumatic compression) intervention to prevent venous thromboembolism in surgical patients. Further, an investigation was done to measure knowledge on prevention of venous thromboembolism, surrogate incidence of venous thromboembolism and to assess IPC compliance in the study patients compared with those in surgical patients who underwent IPC intervention due to previous clinical experience. METHODS: An analysis was done of the nine modules suggested by National Evidence-based Healthcare Collaborating Agency (NECA) in the adaptation manual of the clinical practice guideline for protocol adaptation. A nonequivalent control group post test design as a quasi-experiment was used to verify the effect of the IPC protocol. RESULTS: There was a significant difference in knowledge of prevention of venous thromboembolism, IPC application time after intervention and the number of IPC applications between the experimental group (n=50) using the IPC nursing protocol and the control group (n=49). However, the symptoms of deep vein thrombosis and pulmonary thromboembolism were not observed in either the experimental group or the control group after the intervention. CONCLUSION: Results confirm that the standardized IPC nursing protocol provides effective intervention to prevent venous thromboembolism in surgical patients.
Compliance ; Evidence-Based Nursing ; Evidence-Based Practice ; Humans ; Incidence ; Intermittent Pneumatic Compression Devices ; Nursing Assessment* ; Nursing* ; Pulmonary Embolism ; Venous Thromboembolism* ; Venous Thrombosis

PURPOSE: To investigate the prevalence of amblyogenic risk factors in the primary family members (parents, siblings) of patients with exotropia. METHODS: The authors of the present study examined primary family members including parents and siblings of 58 exotropia patients in our clinic. Best corrected visual acuity, refractive error, and cover-uncover test were performed. A total of 49 normal children's family members (control group) were examined in a similar manner. The prevalence of significant ocular findings were determined and compared to the control group. RESULTS: In 58 eligible families (153 subjects except proband), 65.4% had significant ocular findings: In parents, anisometopia, astigmatism, hyperopia, and strabismus were found at a rate of 18.1%, 31.1%, 2.5%, and 11.2%, respectively. In siblings, anisometropia, astigmatism, hyperopia, and strabismus were found at a rate of 24.3%, 24.3%, 5.4%, and 18.9%, respectively. Compared to the control group, in parents of exotropia patients, anisometropia, astigmastim, and strabismus were observed at a higher rate. In siblings, anisometropia, and strabismus were observed at a higher rate. CONCLUSIONS: Primary family members of exotropia patients have a high prevalence of amblyogenic risk factors. The present study offers rationale for providing comprehensive eye exams for parents and children with a family history of exotropia.
Anisometropia ; Astigmatism ; Child ; Exotropia ; Eye ; Humans ; Hyperopia ; Parents ; Prevalence ; Refractive Errors ; Risk Factors ; Siblings ; Strabismus ; Visual Acuity

A prospective study was initiated to compare maternal serum concentration of CA-125 during the first trimester of normal and abnormal pregnancies. Serum specimens were obtained from 87 women with a normal intrauterine pregnancy and 47 women with abnormal pregnancies which were ended in spontaneo abortion or pathologically confirmed to be missed abortion. In normal pregnancies, the mean serum CA-125 concentrations were increased significantly from amenorhea 6 weeks (139.838.7 IU/ml), and were higher statistically than the values tested in the same weeks of abnormal pregnancies. In abnormal pregnancies serum CA-125 concentations were relatively lower than those of normal pregnancies. But these differences were not statistically significant except the values tested in amenorhea 6weeks. So serum levels of CA-125 may not be proved useful in monitoring of early pregnancies outcome.
Abortion, Missed ; Female ; Humans ; Pregnancy ; Pregnancy Trimester, First* ; Pregnancy* ; Prospective Studies

Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic alteration. A Korean female pediatric patient was admitted because of recurrent cervical lymphadenitis without abscess formation. She had a past history of omphalitis and isolated neutropenia at birth. The peripheral blood showed a markedly decreased absolute neutrophil count, and the bone marrow findings revealed maturation arrest of myeloid precursors at the promyelocyte to myelocyte stage. Her direct DNA sequencing analysis demonstrated an ELANE gene mutation (c.607G > C; p.Gly203Arg), but her parents were negative for it. She showed only transient response after subcutaneous 15 microg/kg/day of granulocyte colony stimulating factor administration for six consecutive days. During the follow-up observation period, she suffered from subsequent seven febrile illnesses including urinary tract infection, septicemia, and cellulitis.
Bacterial Infections ; Base Sequence ; Female ; Granulocyte Colony-Stimulating Factor/administration & dosage/therapeutic use ; Humans ; Infant ; Leukocyte Count ; Leukocyte Elastase/*genetics ; Lymphadenitis ; Neutropenia/blood/*congenital/genetics ; Neutrophils ; Point Mutation ; Republic of Korea ; Sequence Analysis, DNA

Current and primary treatment modality in overactive bladder includes the administration of anticholinergics. The demand for new agents has been rising since anticholinergics have proven to come with many side effects. This study was designed to investigate the effects of ylang-ylang essential oil (YYEO) on the relaxation of urinary bladder muscle in vitro and in vivo. Effects of YYEO were assessed on resting tension, and electrical field stimulation- and various drug-induced contraction in vitro by checking the isometric tension changes of muscle strips and same procedures were repeated in the presence of methylene blue, Nw-Nitro-L-arginine methyl ester hydrochloride (L-NAME), or N-ethylmaleimide, and in vivo. YYEO decreased significantly the contractility of strips. There was no statistically significant difference between the treated group only with YYEO and the pretreated group with YYEO and methylene blue or L-NAME. When N-ethylmaleimide was employed, there was a statistically significant decrease in the rate of contraction. In vivo studies showed the same results compared with in vitro study. The results of this study indicate that YYEO has a relaxing effect on the bladder, and such mechanism is thought to be brought about by a pathway mediated by c-AMP.
Animals ; *Annonaceae ; Bladder/*drug effects/physiology ; Bladder, Neurogenic/drug therapy ; Blood Pressure/drug effects ; In Vitro ; Male ; Muscle Contraction/drug effects ; Muscle, Smooth/drug effects/physiology ; Oils, Volatile/*pharmacology ; Plant Preparations/*pharmacology ; Rabbits ; Rats ; Rats, Sprague-Dawley

The fourth author's name was misprinted.
Fibroblast Growth Factor 2* ; Humans ; Pilot Projects*

PURPOSE: There are a number of conditions that can lead to a hypercoagulable state, however, protein C and S deficiencies are frequently described as causes of the hypercoagulable states. The aim of this study was to evaluate the clinical features and prognosis of vascular diseases associated with protein C and/or S deficiencies and to determine an adequate treatment modality for such cases. METHODS: We prospectively evaluated 7 cases with vascular disease caused by protein C and/or S deficiencies confirmed with serologic tests. RESULTS: Four patients showed venous thrombosis, 1 peripheral arterial insufficiency, 1 cerebral venous thrombosis and peripheral arterial insufficiency, and 1 portal vein thrombosis. Surgical intervention was required in 5 patients. Full anticoagulation with heparin sodium followed by warfarin sodium was done in all patients. CONCLUSION: Protein C and S deficiencies may influence clinical management. Patients presenting with atypical vascular involvement without evidence of other risk factors should be evaluated for a hypercoagulable state. Once the diagnosis is made, patients should be treated with full anticoagulation.
Diagnosis ; Heparin ; Humans ; Prognosis ; Prospective Studies ; Protein C* ; Risk Factors ; Serologic Tests ; Vascular Diseases* ; Venous Thrombosis ; Warfarin

PURPOSE: The increased prevalence of childhood asthma in Korea from 3.4% in 1964 to 15% in 1995 might be very important for morbidity and mortality in children. Recognition of this led to consider the necessity of new management strategies emphasizing patient education. We developed the educational program including asthma-specific play game called 'Malgunsum asthma game' to improve the child's interest and evaluated its educational effect. METHOD: Twenty asthmatic children between the age seven to fifteen were attended Malgunsum Asthma Camp. The Children were randomly assigned to 5 groups, and each player had to move the horse by answering the questions on the card. The first one who reaches the goal wins the game. RESULTS: All the children well followed the play rule and were interested to the game. CONCLUSION: This educational game model will achieve better control of asthma by leading the patients to understand the nature of asthma, how to identify and control the aggravating factors, how to recognize symptoms and appropriate steps for asthma, and the importance of daily maintenance therapy with anti-inflammatory medications.
Asthma* ; Child ; Horses ; Humans ; Korea ; Mortality ; Patient Education as Topic ; Prevalence

No abstract available.
Adenosine Deaminase* ; Adenosine* ; Bronchoalveolar Lavage Fluid* ; Bronchoalveolar Lavage* ; Humans ; Tuberculosis, Pulmonary*