Familial occurrence of spinal muscular atrophy(SMA) is not infrequent. Various modes of inheritance of the SMA have been reported and autosomal recessive inheritance appears the most frequent mode of transmission. A small number of observations indicate autosomal dominant inheritance with either complete or incomplete penetrance. To date, autosomal dominant SMA with complete penetrance in more than 4 generations has been reported very rarely. It is the Purpose of this report to decribe a family with familial SMA presenting as an autosomal dominant trait with occurrence in 4 subsequent generations. This may be the first report in Korea.
Family Characteristics ; Humans ; Korea ; Muscular Atrophy, Spinal* ; Penetrance ; Wills*

No abstract available.
Carbon Monoxide Poisoning* ; Carbon Monoxide* ; Carbon* ; Chorea*

To evaluate the predictive value of serum fibronectin and roll-over test for pregnancy induced hypertension (PIH), we studies 79 patients between the twenty-eighth and thirty-second week of gestation from October 1995 to May 1996. The results were as follows . 1) There was no significant difference of mean diastolic pressure difference in roll-over test and serum fibronectin levels between 13 PIH patients and 66 controls. Between two groups of patients, mean diastolic blood pressure differences were 14.3+/-3.9mmHg, 12.0+/-4.4mmHg and mean serum fibronectin levels were 231.2+/-90.8 pg/ml, 196.5+/-61.2 pg/ml respectively(p> 0.1). 2) For prediction of PIH, the sensitivity, the positive predictive value and the negative predictive value of roll-over test were 8%, 14% and 83%.
Blood Pressure ; Female ; Fibronectins* ; Humans ; Hypertension, Pregnancy-Induced* ; Pregnancy ; Pregnancy*

Various cancer types have been associated with cancer-related cerebral infarction. In this study, we describe the first case of cancer-related cerebral infarction in which the underlying disease was primary bone marrow lymphoma (PBML). A 79-year-old man presented with abruptly developed bilateral lower extremity weakness and confusion. Diffusion-weighted imaging on admission showed multiple cortical and subcortical embolic infarction lesions in multiple vascular territories. Diagnostic evaluations to determine the embolic source revealed no abnormalities. Laboratory testing demonstrated elevated D-dimer (2.59 μg/mL) but no other prothrombotic abnormalities. In suspicion of cancer-related stroke, we performed chest CT, abdomen CT, and FDG-PET to detect the hidden malignancy. Findings revealed no evidence of cancer; however, they did reveal signs of anemia (hemoglobin 9.0 g/dL). Bone marrow aspiration biopsy showed large atypical B cell involvement suggestive of high-grade B cell lymphoma. The patient was diagnosed with primary bone marrow diffuse large B-cell lymphoma initially presenting with ischemic stroke. Our case suggests that primary bone marrow cancer may be a candidate for the differential diagnosis of hidden malignancy in patients with suspected cancer-related stroke. Bone marrow biopsy may be essential for establishing an appropriate differential diagnosis in patients with abnormal hematologic findings.

Purpose: This study aims to explore mothers’ experiences of anger while raising a child in South Korea based on a qualitative descriptive approach. Methods: A total of ten mothers of children aged 1-3 years participated in the study. In-depth individual interviews were conducted from August to September 2019 to collect data, which were then subjected to thematic analysis. Results: A total of 4 main themes and 10 subthemes were identified. The 4 themes were “individual and environmental factors that influence anger,” “a vicious cycle of anger expression and guilt,” “being a little bit more mature as a mother,” and “need for anger management.” This study described various causes, ways of expressing, and effects of anger, as well as the mother’s coping strategies. These experiences were viewed as milestones along the journey to becoming a real parent and helped mothers develop empathy for other children and mothers. The participants expressed support for expanding the social support system for child-rearing and providing psychological programs for mothers. Conclusion Mothers of children aged 1-3 years experienced anger owing to various factors, but adapted by developing coping skills. This study recommends family-based support interventions to help mothers manage their emotions and parenting roles.

BACKGROUND: The bacterium Chlamydia trachomatis is one of the leading causes of sexually transmitted diseases worldwide. Since no simple and effective tool exists to diagnose C. trachomatis infections, we evaluated a novel point-of-care (POC) test, aQcare Chlamydia TRF kit, which uses europium-chelated nanoparticles and a time-resolved fluorescence reader. METHODS: The test performance was evaluated by comparing the results obtained using the novel POC testing kit with those obtained using a nucleic acid amplification test (NAAT), using 114 NAAT-positive and 327 NAAT-negative samples. RESULTS: The cut-off value of the novel test was 20.8 with a detection limit of 0.27 ng/mL. No interference or cross-reactivity was observed. Diagnostic accuracy showed an overall sensitivity of 93.0% (106/114), specificity of 96.3% (315/327), positive predictive value (PPV) of 89.8% (106/118), and negative predictive value (NPV) of 97.5% (315/323). The sensitivity of the novel test was much higher than that of currently available POC tests. Furthermore, the relative ease and short turnaround time (30 min) of this assay enables C. trachomatis-infected individuals to be treated without a diagnostic delay. CONCLUSIONS: This simple and novel test is a potential tool to screen a larger population, especially those in areas with limited resources.
Adult ; Aged ; Aged, 80 and over ; Chlamydia Infections/*diagnosis ; Chlamydia trachomatis/*genetics/isolation & purification ; DNA, Bacterial/chemistry/metabolism ; Europium/*chemistry ; Female ; Humans ; Male ; Metal Nanoparticles/*chemistry ; Middle Aged ; Point-of-Care Systems ; Reagent Kits, Diagnostic ; Real-Time Polymerase Chain Reaction ; Sensitivity and Specificity ; Young Adult

Presented a 39 year old man of cerebral malaria and pertinent literature were reviewed briefly. The patient was admitted because of fever and drowsy mental state. On admission, there were mild icteric sclerae and hepatomegaly. Brain C-T scan was normal. The cerebrospinal fluid study showed increased pressure (280 mmH20), and protein content (150 mg/dl) with mild pleocytosis. The EEG revealed diffuse delta waves throughout the head. At the 3rd hospital day, the patient was rapidly deteriorated to comatous state showing marked hyperbilirubinemia, thrombocytopenia and bleeding tendency and expired. Numerous plasmodium falciparum parasites were revealed in the peripheral blood smear.
Adult ; Brain ; Cerebrospinal Fluid ; Electroencephalography ; Fever ; Head ; Hemorrhage ; Hepatomegaly ; Humans ; Hyperbilirubinemia ; Leukocytosis ; Malaria, Cerebral* ; Parasites ; Plasmodium falciparum ; Sclera ; Thrombocytopenia

The aim of this study was to identify the bacteria isolated from acute endodontic lesions by cell culture and 16S rDNA sequencing. The necrotic pulpal tissue was collected from 17 infected root canals, which were diagnosed as being either an acute pulpitis or acute periapical abscess. Samples were collected aseptically from the infected pulpal tissue of the infected root canals using a barbed broach and a paper point. The cut barbed broaches and paper points were transferred to an eppendorf tube containing 500 ul of 1 X PBS. The sample solution was briefly mixed and plated onto a BHI-agar plate containing 5% sheep blood. The agar plates were incubated in a 37degrees C anaerobic chamber for 7 days. The bacteria growing on the agar plate were identified by 16S rRNA coding gene (rDNA) cloning and sequencing at the species level. Among the 71 colonies grown on the agar plates, 56 strains survived and were identified. In dental caries involving the root canals, Streptococcus spp. were mainly isolated. Actinomyces, Clostridia, Bacteroides and Fusobacteria were isolated in the periapical lesion without dental caries. Interestingly, two new Actinomyces spp. (ChDC B639 and ChDC B631) were isolated in this study. These results showed that there was diversity among the species in endodontic lesions. This suggests that an endodontic infection is a mixed infection with a polymicrobial etiology. These results may offer the bacterial strains for pathogenesis studies related to an endodontic infection.
Actinomyces ; Agar ; Bacteria* ; Bacteroides ; Cell Culture Techniques ; Clinical Coding ; Clone Cells ; Cloning, Organism ; Coinfection ; Dental Caries ; Dental Pulp Cavity* ; DNA, Ribosomal ; Fusobacteria ; Periapical Abscess* ; Pulpitis* ; Sheep ; Streptococcus ; Tooth*

We report a case of pneumomediastinum, subcutaneous emphysema, and mild pneumothorax that occurred after endotracheal intubation with a metallic endotracheal tube for the laser operation. Fortunately, pneumomediastinum and subcutaneous emphysema were self-limited. But potentially life-threatening events such as upper airway obstruction, tension pneumothorax, pneumopericardium, mediastinitis might be possible. These complications may result from mucosal perforation of upper airway. The use of a tube with rigid and relatively narrower internal diameter than polyvinylchloride endotracheal tube, tough endotracheal intubation technique, high peak inspiratory pressure, suction technique and negative pressure are included as complication factors.
Airway Obstruction ; Intubation, Intratracheal ; Mediastinal Emphysema* ; Mediastinitis ; Pneumopericardium ; Pneumothorax ; Subcutaneous Emphysema* ; Suction