Holt-Oram Syndrome is an autosomal dominant disorder characterized by the association of upper-limb abnormalities and congenital heart disease. A woman with no family history of genetic disease underwent antenatal sonography at 27 weeks' menstrual age to screen for fetal anomalies. Ultrasonography revealed abnormalities in the upper limbs. The limb abnormalities included abscence of bilateral thumbs and radius: the left humus was short. Pregnancy termination was performed. The postnatal chromosomal analysis revealed a normal 46XX karyotype and the autopsy finding confirmed the Holt-Oram syndrome. We report a case of Holt-Oram Syndrome in fetus with unaffected parents with brief of the literatures.
Autopsy ; Extremities ; Female ; Fetus ; Heart Defects, Congenital ; Humans ; Karyotype ; Parents* ; Pregnancy ; Radius ; Soil ; Thumb ; Ultrasonography* ; Upper Extremity

This study aims to examine the clinical differences between objective short sleep insomniacs (OSSI) and subjective short sleep insomniacs (SSSI). Methods: We enrolled 79 patients (aged 27–74 years) with chronic insomnia disorder (CID) who underwent overnight polysomnography (PSG) and completed sleep-related questionnaires as well as habitual sleep time. All of them completed actigraphy (ACT) recording for one week prior to the PSG study. Objective sleep duration for one-week average sleep was calculated by ACT, and subjective sleep duration was counted through self-reported habitual sleep time. We divided the subjects into three groups; OSSI (<6 hight), SSSI (objective sleep ≥6 hight and subjective sleep <6 h/ night), and normal sleep duration insomniacs (NSDI, subjective sleep ≥6 hight). Results: The three groups namely OSSI, SSSI, and NSDI had 25 (31.6%), 36 (45.6%), and 18 (22.8%) subjects, respectively. The SSSI were significantly older and had higher daytime sleepiness than the OSSI. According to the PSG results, the OSSI showed shorter sleep latency (11.86 min vs. 39.69 min) and N2 sleep % (59.43% vs. 67.96%), and longer rapid eye movement sleep % (20.79% vs. 15.47%) than that in the NSDI. There was no difference in treatment response between groups. Conclusions: 45.6% of CID patients underestimated their sleep relative to objective sleep. However, there were no differences in total sleep time on PSG between groups. The OSSI showed younger age and more daytime sleepiness, and the SSSI showed poorer sleep quality than the NSDI. These findings suggest that long-term ACT recording in a casual environment would be useful to monitor objective sleep in patients with CID, particularly, in subjectively short sleep insomniacs.

Objectives: Sleep issues are more prevalent in healthcare workers compared to workers in other industries. This study investigated sleep-wake pattern, sleep quality, and daytime status in hospital workers using a Galaxy Watch3 (GW3), a wrist-worn device that uses an accelerometer and heart rate sensor to distinguish sleep and wakefulness. Methods: Multiple sleep parameters including total sleep time (TST) were obtained using a GW3. The Epworth sleepiness scale (ESS), insomnia severity index (ISI), Pittsburgh sleep quality index (PSQI), and bedtime procrastination scale (BPS) were used to assess participants’ status. Results: A total of 70 daytime hospital workers (male, 45.7%; mean age, 35.66±7.79 yr) participated in the monitoring of their sleep-wake patterns for 30 consecutive days. Participants had a mean ESS of 8.14±3.62, ISI of 6.13±3.83, and PSQI of 4.86±2.14. The mean TST was 5.75±0.74 hr (range: 3.42–6.88) during workdays and 5.92±0.92 hr (range: 2.87–8.25) during free days. Chronotype (mid-sleep on freedays corrected for sleep debt accumulated over the work week) was 3.60±1.03 clock hr (range: 1.84–6.69). BPS was negatively correlated with age (rho=-0.27, p=0.022), TST of workdays (rho=-0.53, p<0.001), and TST of free days (rho=-0.43, p<0.001). A higher BPS was associated with larger social jetlag (rho=0.28, p=0.018) and later chronotype (rho=0.41, p<0.001). Conclusions In this study, 91.5% of daytime hospital workers suffered from chronic sleep insufficiency (<7 hr during both workdays and free days) although their daytime sleepiness or subjective sleep were not poor. Individuals with a later chronotype had poorer sleep quality and worse sleep procrastination behavior.

PURPOSE: Ethanol is the most common toxic substance encountered clinically and is becoming increasingly important in forensic medicine. Generally, pre-treatment with an alcohol disinfectant such as isopropyl alcohol for blood sampling could influence evaluations and affect legal evidence. This study was performed to determine whether isopropyl alcohol affects the serum ethanol level. METHODS: Volunteers were prohibited from drinking alcohol and taking medication for 48 hours prior to participating. Pregnant volunteers and volunteers with abnormal liver enzymes or abnormal kidney function were excluded. Enrolled subjects had their blood collected from each arm to measure the alcohol concentration, one side was disinfected with povidone iodine and the other with isopropyl alcohol. After waiting one hour, they ingested 20g of alcohol and waited. After one hour, the serum ethanol levels were measured using the same method as the first sampling. RESULTS: Ten volunteers enrolled for this study. Without the alcohol intake, all serum ethanol levels were in the nondetectable range(<3 mg/dL) for both samples with either isopropyl alcohol or povidone iodine. After drinking alcohol, the serum ethanol level varied among individuals; the mean value of the serum ethanol levels in the alcohol preparation group was 21.08+/-4.85 mg/dL, which was significantly greater than that of the povidone iodine preparation group (19.71+/-5.47 mg/dL) (p=0.006). However, the Bland-Altman analysis showed that the precision of both groups was 1.230 mg/dL, which was less than the measurement error of the equipment (3.48 mg/dL). Therefore, there was no significant difference between the two groups with regard to the measurement error. CONCLUSION: Before alcohol intake, there was no influence on the blood alcohol concentration from the alcohol disinfection, and the result was reliable. After alcohol intake, the possible influence of pre-treatment alcohol on the serum ethanol level was less than the measurement error of the equipment used.
2-Propanol ; Alcohol Drinking ; Arm ; Disinfection ; Drinking ; Ethanol ; Forensic Medicine ; Kidney ; Liver ; Povidone-Iodine

BACKGROUND AND OBJECTIVES: Diagnosis of Kawasaki disease (KD) is based on 5 clinical features. Incomplete KD (IKD), which has fewer features, is more common in infants and older children, in whom the rate of coronary artery aneurysms is paradoxically higher. We conducted this study to evaluate risk factors associated with age-at-diagnosis on coronary arterial lesions (CAL) in patients with IKD. SUBJECTS AND METHODS: Retrospective data from 396 patients with KD in a single center were collected from January 2003 to July 2007. Patients were grouped according to their age at diagnosis; Group A (<1 year of age), Group B (1< or =age<5 years of age), and Group C (> or =5 years of age). RESULTS: Among a total of 396 patients with KD, 87 (22.0%) were in Group A, 246 (62.1%) in Group B, and 63 (15.9%) in Group C. In groups A and C, lag times for starting intravenous immunoglobulin (IVIG) were longer than in Group B. There were no differences in the incidence of IKD, late CAL, or rates of IVIG retreatment among the three groups. Among 174 patients with IKD, there were no age-related differences in late CAL incidence or IVIG retreatment. Compared with typical KD, duration of fever and lag times to start IVIG were longer, and the rate of IVIG retreatment was higher in IKD, but there was no difference in the risk of CAL between typical KD and IKD. CONCLUSION: In the management of KD, especially the incomplete type, age-associated factors appear not to be significant for predicting the development of CAL.
Aneurysm ; Child ; Coronary Vessels ; Fever ; Humans ; Immunoglobulins ; Immunoglobulins, Intravenous ; Incidence ; Infant ; Mucocutaneous Lymph Node Syndrome ; Retreatment ; Retrospective Studies ; Risk Factors

Coarctation of the aorta is frequently associated with intracardiac disease. It is very difficult to decide on the best method for surgically treating adult patients with these combined heart diseases. We performed single-stage repair via a modified Bentall operation and by creating an intrapericardial ascending-descending aortic bypass through a median sternotomy in a patient with coarctation of the aorta and annuloaortic ectasia, and the latter was associated with aortic valve regurgitation.
Adult ; Aorta ; Aortic Aneurysm, Thoracic ; Aortic Coarctation ; Aortic Valve ; Dilatation, Pathologic ; Heart Diseases ; Humans ; Sternotomy

PURPOSE: Laparoscopic surgery has recently shown rapid development, and has been applied in most abdominal surgeries. It has also been adopted in hepatobiliary surgery, especially in the resection of liver tumors. Significant advantages of laparosopic surgery over the conventional open method have been reported, however, the safety of the surgical resection margin and radicality of the tumor resection remain to be clarified. This study was conducted in order to assess the feasibility and potential superiority of laparoscopic liver resection of hepatocellular tumors to open surgery. METHODS: This study included 76 patients who underwent liver resection for hepatocellular carcinoma at Dong-A University Hospital from January 2008 through June 2010. Of these 63 cases, 31 patients underwent laparoscopic resections and 33 underwent open liver resections. Both groups were confirmed as hepatocellular carcinoma by postoperative pathology and analyzed retrospectively. RESULTS: There were no statistically significant differences in preoperative parameters, such as age, height, body weight, Child Pugh score, ASA, and tumor size in both groups. There were no significant differences in operating time, duration of hospital stay, safety margins of surgical resection, postoperative complications, and rate of recurrence and occurrence of new lesions in both groups, however, better disease free survival was observed in the laparoscopic group (p=0.024). CONCLUSION: Findings of this study showed that the laparoscopic group had better results in free survival period than the open group. Conduct of larger scale prospective studies wound confirm the superiority of the laparoscopic liver resection to the conventional open procedure in patients with hepatocellular carcinoma. Findings of this study also suggest that assessment of the factors associated with the quality of life, such as degree of postoperative pain, and size of the incisional scar, and long term postoperative complications may play an additional role in favoring the laparoscopic liver resection. To elucidate the superiority of the laparoscopic liver resection to the conventional open method, conduct of study involving a larger study group and a longer prospective research period will be needed.
Body Height ; Carcinoma, Hepatocellular ; Child ; Cicatrix ; Disease-Free Survival ; Humans ; Laparoscopy ; Length of Stay ; Liver ; Pain, Postoperative ; Postoperative Complications ; Quality of Life ; Recurrence

Tooth wear, one of the physiological changes in the elderly patient's mouth, generally does not require treatment, but requires prosthodontic restoration when occlusal disharmony, poor masticatory function, pulp exposure occurs. One of the primary considerations in prosthodontic restoration for tooth wear is vertical dimension. It is necessary to make an accurate diagnosis and analysis, correct judgement of the interdental relationship for predictive treatment plan. A step-by-step approach considering dental care for aged is also required. In this case, a 93-year-old male patient presented with worn dentition and mobility of existing fixed dental prosthesis. After diagnosis and evaluation, maxillary rehabilitation without any change in the occlusal vertical dimension was performed and this shows satisfactory results both functionally and morphologically.
Aged* ; Dental Care for Aged ; Dental Prosthesis* ; Dentition* ; Diagnosis ; Humans ; Male ; Mouth ; Rehabilitation ; Tooth Wear ; Vertical Dimension

PURPOSE: The present study was performed to clarify the relationship between periodontal disease severity and selected immunological parameters consisting of serum IgG titer against periodontopathogenic bacteria, the expression of the helper T-cell cytokine by gingival mononuclear cells, and patients' immunoreactivity to cross-reactive heat shock protein (HSP) epitope peptide from P. gingivalis HSP60. METHODS: Twenty-five patients with moderate periodontitis had their gingival connective tissue harvested of gingival mononuclear cells during an open flap debridement procedure and peripheral blood was drawn by venipuncture to collect serum. The mean level of interproximal alveolar bone was calculated to be used as an index for periodontal disease severity for a given patient. Each of selected immunologic parameters was subject to statistical management to seek their correlations with the severity of periodontal disease. RESULTS: A significant correlation could not be identified between serum IgG titers against specific bacteria (Porphyromonas gingivalis, Prevotella intermedia, Fusobacterium nucleatum, Actinobacillus actinomycetemcomitans, and Streptococcus mutans) and the severity of periodontal disease. Expression of interleukin (IL)-10 by gingival mononuclear cells was statistically significant in the group of patients who had higher levels of alveolar bone height. However, a similar correlation could not be demonstrated in cases for IL-4 or interferon-gamma. Patients' serum reactivity to cross-reactive epitope peptide showed a significant correlation with the amount of alveolar bone. CONCLUSIONS: It was concluded that expression of IL-10 by gingival mononuclear cells and patients' sero-reactivity to the cross-reactive HSP peptide of P. gingivalis HSP60 were significantly correlated with alveolar bone height.
Actinobacillus actinomycetemcomitans ; Bacteria ; Connective Tissue ; Debridement ; Fusobacterium nucleatum ; Heat-Shock Proteins ; Humans ; Immunoglobulin G ; Interferon-gamma ; Interleukin-10 ; Interleukin-4 ; Interleukins ; Periodontal Diseases ; Periodontitis ; Phlebotomy ; Prevotella intermedia ; Streptococcus ; T-Lymphocytes ; T-Lymphocytes, Helper-Inducer

PURPOSE: This study examined the risk factors of a delayed diagnosis of acute appendicitis in children undergoing an appendectomy. METHODS: This retrospective study involved children aged below 18 years, who underwent an appendectomy. After dividing them into a delayed diagnosis group and nondelayed diagnosis group according to the time interval between the initial hospital visit and final diagnosis, the risk factors of delayed diagnosis were identified using logistic regression analysis. RESULTS: Among 712 patients, 105 patients (14.7%) were classified in the delayed diagnosis group; 92 patients (12.9%) were diagnosed using ultrasonography (US), and both US and computed tomography were performed in 38 patients (5.3%). More patients in the delayed diagnosis group underwent US (P=0.03). Spring season and prior local clinic visit were significantly associated with a delayed diagnosis. Fever and diarrhea were more common in the delayed diagnosis group (fever: odds ratio [OR], 1.37; 95% confidence interval [CI], 1.05–1.81; diarrhea: OR, 1.94; 95% CI, 1.08–3.46; P<0.05). These patients showed symptoms for a longer duration (OR, 2.59; 95% CI, 1.78–3.78; P<0.05), and the admission course (OR, 1.26; 95% CI, 1.11–1.44; P<0.05) and C-reactive protein (CRP) levels (OR, 1.47; 95% CI, 1.19–1.82; P<0.05) were associated with the delayed diagnosis. CONCLUSION: To decrease the rate of delayed diagnoses of acute appendicitis, symptoms such as fever and diarrhea, seasonal variations, admission course, and CRP levels should be considered and children with a longer duration of symptoms should be closely monitored.
Ambulatory Care ; Appendectomy ; Appendicitis* ; C-Reactive Protein ; Child* ; Delayed Diagnosis* ; Diagnosis ; Diarrhea ; Fever ; Humans ; Logistic Models ; Odds Ratio ; Retrospective Studies ; Risk Factors* ; Seasons ; Ultrasonography