Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.

PURPOSE: Stress is associated with depression, which induces many psychiatric disorders. Serotonin, also known as 5-hydroxy-tryptamine (5-HT), acts as a biochemical messenger and regulator in the brain. It also mediates several important physiological functions. Depression is closely associated with an overactive bladder. In the present study, we investigated the effect of treadmill exercise on stress-induced depression while focusing on the expression of 5-HT 1A (5-H(1A)) receptors in the dorsal raphe. METHODS: Stress was induced by applying a 0.2-mA electric foot shock to rats. Each set of electric foot shocks comprised a 6-second shock duration that was repeated 10 times with a 30-second interval. Three sets of electric foot shocks were applied each day for 7 days. For the confirmation of depressive state, a forced swimming test was performed. To visualize the expression of 5-HT and tryptophan hydroxylase (TPH), immunohistochemistry for 5-HT and TPH in the dorsal raphe was performed. Expression of 5-H(1A) receptors was determined by western blot analysis. RESULTS: A depressive state was induced by stress, and treadmill exercise alleviated the depression symptoms in the stress-induced rats. Expressions of 5-HT, TPH, and HT 1A in the dorsal raphe were reduced by the induction of stress. Treadmill exercise increased 5-HT, TPH, and HT 1A expressions in the stress-induced rats. CONCLUSIONS: Treadmill exercise enhanced 5-HT synthesis through the up-regulation of 5-HT(1A) receptors, and improved the stress-induced depression. In the present study, treadmill exercise improved depression symptoms by enhancing 5-HT(1A) receptor expression. The present results suggest that treadmill exercise might be helpful for the alleviation of overactive bladder and improve sexual function.
Animals ; Blotting, Western ; Brain ; Depression* ; Exercise Test ; Exercise* ; Foot ; Immunohistochemistry ; Physical Exertion ; Rats* ; Receptor, Serotonin, 5-HT1A* ; Serotonin ; Shock ; Stress, Psychological ; Tryptophan Hydroxylase ; Up-Regulation* ; Urinary Bladder, Overactive

Background: Gastrointestinal microbiota, which comprises hundreds of different types of microbes, biologically plays crucial roles in the host’s health. Probiotics (PRO) did not always have a positive benefit on the host, depending on strains of microbes and the physiochemical properties of prebiotics (PRE), indicating that the properties of PRE in combination with PRO might have different effects on the gut ecology. The aim of this study was to assess the effects of insoluble or soluble PRE with PRO on intestinal digestive hydrolase, the fecal microbes, and immunological biomarkers in SD rats fed an AIN-93G diet. Results: Forty, 8-week-old SD rats were randomly assigned to 4 groups with 10 replicates in each; cellulose (CELL), cellulose + probiotics (CELPRO), oatmeal (OATS), and oatmeal + probiotics (OATPRO) groups. After 4-week feeding trial, rats were treated with saline or lipopolysaccharide (LPS, 1 mg/kg) to examine the alleviating effects of PRO and PRE on immunological responses. There was a significant (p < 0.05) decrease in feed intake of rats fed the oatmeal supplemented diet without affecting growth performance. Blood triglyceride was significantly (p < 0.05) decreased in rats fed the oatmeal diet, and aspartate aminotransferase (AST) was significantly (p < 0.05) decreased in rats fed the PRO supplemented diet. Intestinal maltase, sucrose, and lactase activities were significantly (p < 0.05) higher in rats fed PRO compared with rats not fed PRO. Rats fed the oatmeal showed a significant (p < 0.01) increase in the fecal colony forming units (CFU) of Lactobacillus plantarum, Bacillus subtilis, and Saccharomyces cerevisiae compared with those fed cellulose. LPS-treated rats fed PRO showed a significant (p < 0.05) increase in blood secretory immunoglobulin A (sIgA) compared with those not fed PRO. The LPS-treated rats fed PRO resulted in decreased (p < 0.05) blood IL-6 compared with those not fed PRO, indicating that a dietary PRO alleviated inflammatory response in LPS-treated rats. Conclusions Dietary oatmeal increased fecal microbes, and PRO supplement resulted in increased intestinal hydrolase and immune functions of the host, demonstrating that soluble PRE with supplemented with PRO could be a more bioactive combination of synbiotics in SD rats.

Intestinal entrapment between two vertebral bodies is very rare. In all previous cases, it occurred by major trauma. However, the bowel entrapment between two vertebral bodies without trauma has never been reported, not to mention as the cause of lower extremity radicular pain. We describe the case of an 82-year-old female patient with right lower extremity radicular pain without recent trauma history. The patient was diagnosed sigmoid colon entrapment between the L5 and S1 vertebrae by lumbar spinal computerized tomography and magnetic resonance imaging, and showed improvement in radicular pain after manual reduction of interpositioned colon during surgery. Intestinal entrapment between two vertebrae without trauma is caused by degenerative and vacuum changes of the intervertebral disc combined with the anterior longitudinal ligament injury.
Aged, 80 and over ; Colon ; Colon, Sigmoid* ; Female ; Humans ; Intervertebral Disc ; Longitudinal Ligaments ; Lower Extremity* ; Magnetic Resonance Imaging ; Radiculopathy ; Spine* ; Vacuum

OBJECTIVE: Although hemodialysis using heparin bound Hemophan (HBH-HD) has been reported to be a possible modality in patients at risk of bleeding, the efficiency and safety of HBH-HD is not certain. Therefore, we prospectively compared the safety and efficiency of HBH-HD with those of saline flushing HD (SF-HD) and HD using low dose heparin (LDH-HD) in 13 HD patients at risk of bleeding in a cross-over design. METHODS: The safety and efficiency were evaluated by measuring activated partial prothrombin time (aPTT) before and during HD, hemostasis time after needle removal, total blood compartment volume (TBCV) loss of dialyzer, urea clearance (K) and Kt/V. RESULTS: There was no difference in compression time needed to achieve hemostasis at puncture site after needle removal between HBH-HD, SF-HD and LDH-HD. During HBH-HD, there was a slight increase in aPTT at 15 min (50.6+/-4.5 sec), compared to predialysis levels (40.9+/-4.7 sec). In this cross- over study, aPTT during dialysis session was markedly higher in LDH-HD than those in HBH-HD or SF-HD (p<0.05). The loss of TBCV of the dialyzer was greater in SF-HD than HBH-HD or LDH-HD (17.4+/-1.9% vs. 12.4+/-1.4% vs. 10.1+/-1.8%). However, there was no difference in K (212.0+/-30.7 vs. 217.2+/-36.9 vs. 221.6+/- 29.5 mL/min) and Kt/V (1.22+/-0.12 vs. 1.24+/-0.16 vs. 1.26+/-0.18). CONCLUSION: We concluded that the safety and efficiency of HBH-HD are not different compared to SF-HD or LDH-HD and HBH-HD could an alternative hemodialysis method in patients at risk of bleeding.
Anticoagulants ; Cross-Over Studies ; Dialysis ; Flushing* ; Hemorrhage* ; Hemostasis ; Heparin* ; Humans ; Needles ; Prospective Studies ; Prothrombin Time ; Punctures ; Renal Dialysis* ; Urea