A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report the case of a 22-month-old toddler who presented with growth retardation and delayed development. The patient exhibited the typical laboratory findings of VDDR1A, including hypocalcemia (calcium: 5.2 mg/dL), elevated serum level of alkaline phosphatase (2,600 U/L), elevated serum level of intact-parathyroid hormone (238 pg/mL), low 1,25(OH)₂D₃ level (11.2 pg/mL), and normal 25(OH)D₃ level (40.7 ng/mL). His height and weight were 76.5 cm and 9.5 kg, respectively (both <3rd percentile). The Bayley Scales of Infant and Toddler Development II indicated significantly delayed development (mental development index <50, psychomotor development index <50). The patient was a compound heterozygous for two novel pathogenic variants in the CYP27B1 gene: c.57_69del (p.Glu20Profs*2) and c.171dupG (p.Leu58Alafs*275), inherited from his mother and father, respectively. The patient showed remarkable improvement after treatment with calcitriol and calcium carbonate.

Late complication of the Nuss procedure: recurrent cardiac tamponade / 영남의대학술지

Pectus excavatum (PE) is known as one of the most common congenital deformities of the anterior chest wall. The Nuss procedure is an effective surgical therapy to correct PE. Here, we report a case of recurrent cardiac tamponade due to hemopericardium that occurred after 16 months following the Nuss procedure. The cause of recurrent hemopericardium was thought to be local, repetitive irritation of the pericardium by the Nuss steel bar. We should keep in mind that this serious complication can occur after the Nuss procedure, even in the late phase.

Late complication of the Nuss procedure: recurrent cardiac tamponade / 영남의대학술지

Pectus excavatum (PE) is known as one of the most common congenital deformities of the anterior chest wall. The Nuss procedure is an effective surgical therapy to correct PE. Here, we report a case of recurrent cardiac tamponade due to hemopericardium that occurred after 16 months following the Nuss procedure. The cause of recurrent hemopericardium was thought to be local, repetitive irritation of the pericardium by the Nuss steel bar. We should keep in mind that this serious complication can occur after the Nuss procedure, even in the late phase.

Antibacterial and remineralization effects of orthodontic bonding agents containing bioactive glass / 대한치과교정학회지

OBJECTIVE: The aim of this study was to evaluate the mechanical and biological properties of orthodontic bonding agents containing silver- or zinc-doped bioactive glass (BAG) and determine the antibacterial and remineralization effects of these agents. METHODS: BAG was synthesized using the alkali-mediated solgel method. Orthodontic bonding agents containing BAG were prepared by mixing BAG with flowable resin. Transbond™ XT (TXT) and Charmfil™ Flow (CF) were used as controls. Ion release, cytotoxicity, antibacterial properties, the shear bond strength, and the adhesive remnant index were evaluated. To assess the remineralization properties of BAG, micro-computed tomography was performed after pH cycling. RESULTS: The BAG-containing bonding agents showed no noticeable cytotoxicity and suppressed bacterial growth. When these bonding agents were used, demineralization after pH cycling began approximately 200 to 300 µm away from the bracket. On the other hand, when CF and TXT were used, all surfaces that were not covered by the adhesive were demineralized after pH cycling. CONCLUSIONS: Our findings suggest that orthodontic bonding agents containing silver- or zinc-doped BAG have stronger antibacterial and remineralization effects compared with conventional orthodontic adhesives; thus, they are suitable for use in orthodontic practice.

Differential Diagnosis of Tumor Embolism with Thromboembolism Using Positron Emission Tomography / 대한내과학회지

No abstract available.

A Case of Gastric Wall Hematoma and Ischemic Necrosis After Endoscopic Biopsy / 영남의대학술지

Hematoma of gastric wall is very rare, and occasionally associated with coagulopathy, trauma, peptic ulcer disease, and therapeutic endoscopy. Ischemic gastric necrosis is also rare because of the abundant anastomotic supply to the stomach, and it is usually associated with surgery and disruption of the major vessels. Endoscopic submucosal injection of hypertonic saline-epinephrine (HS-E) is a safe, cost-effective, and widely used therapy for hemostasis but it may cause tissue necrosis and perforation. We describe a case of gastric wall hematoma with oozing bleeding after endoscopic gastric mucosa biopsy in 71-year old woman with chronic renal failure and angina pectoris undergoing anti-platelet medication. We injected a small dose of HS-E (7ml) for controlling oozing bleeding. Two days later, endoscopy showed huge ulcer with necrotic tissue at the site of previously hematoma. Therefore we should pay particular attention for hematoma and mucosal necrosis when performing endoscopic procedure in a patients with high bleeding and atherosclerotic risk.

A Case of Hemorrhagic Fever with Renal Syndrome with Stress-induced Cardiomyopathy / 대한신장학회지

Hemorrhagic fever with renal syndrome is an acute febrile disease with high fever, hemorrhagic symptoms, renal failure. Stress-induced cardiomyopathy is a newly described clinical entity characterized by transient left ventricular apical ballooning and left ventricular apical dyskinesis, with no stenosis on the coronary angiogram. We experienced a rare case of stress-induced cardiomyopathy associated with hemorrhagic fever with renal syndrome.

A ureteral ulcer and stricture in a patient with Behcet's disease / 대한내과학회지

Behcet's disease is a chronic multisystem inflammatory disorder. Genetic, environmental, and immunological factors have been suggested as possible causes of Behcet's disease. Although seen at any age, Behcet's disease generally begins when individuals are in their 20s or 30s. The common major symptoms of Behcet's disease include recurrent oral ulcers, genital ulcers, and eye inflammation. The disorder may also cause various skin lesions, arthritis, bowel inflammation, meningitis, and cranial nerve palsies. The common urinary system manifestations are glomerulonephritis, cystitis, epididymitis, orchitis, and genital ulceration, whereas ureteral ulcers and strictures are uncommon. Here, we report an uncommon case of a ureteral ulcer and stricture in a 34-year-old man with Behcet's disease.

A Case of Ischemic Colitis by Oral Sulfate Free-Polyethylene Glycol

Ischemic colitis is the most common form of gastrointestinal ischemia. Factors that can contribute to the development of ischemic colitis include atherosclerosis, congestive heart failure, sustained hypovolemia, vasculitis, and mechanical colonic obstruction. Also, pharmacologic agents, including diuretics, pseudoephedrine, non-steroidal anti-inflammatory drugs, and oral contraceptives may be the cause of colonic ischemia. Oral sulfate-free polyethylene glycol (SF-PEG, Colyte-F(R)) has frequently been used as a cleaning agent in bowel preparation for colonoscopy. Some cases of ischemic colitis produced by oral hyperosmotic laxatives have been reported; however, no case has been reported regarding ischemic colitis caused by SF-PEG. Herein we report a rare case of ischemic colitis caused by oral sulfate-free polyethylene glycol, which was given for bowel preparation before colonoscopy in a 70-year-old man with chronic constipation.

A Case of Ischemic Colitis by Oral Sulfate Free-Polyethylene Glycol

Ischemic colitis is the most common form of gastrointestinal ischemia. Factors that can contribute to the development of ischemic colitis include atherosclerosis, congestive heart failure, sustained hypovolemia, vasculitis, and mechanical colonic obstruction. Also, pharmacologic agents, including diuretics, pseudoephedrine, non-steroidal anti-inflammatory drugs, and oral contraceptives may be the cause of colonic ischemia. Oral sulfate-free polyethylene glycol (SF-PEG, Colyte-F(R)) has frequently been used as a cleaning agent in bowel preparation for colonoscopy. Some cases of ischemic colitis produced by oral hyperosmotic laxatives have been reported; however, no case has been reported regarding ischemic colitis caused by SF-PEG. Herein we report a rare case of ischemic colitis caused by oral sulfate-free polyethylene glycol, which was given for bowel preparation before colonoscopy in a 70-year-old man with chronic constipation.

A Case of Plummer-Vinson Syndrome in an Elderly Patient / 대한소화기내시경학회지

Plummer-Vinson syndrome is a complex syndrome characterized by upper esophageal webs, dysphagia, and iron deficiency anemia. This syndrome develops principally in middle-aged women, and only rarely in patients over age 80. We present a case of Plummer-Vinson syndrome occurring in an 82-year-old woman who visited the hospital because of progressive dysphagia. Esophagogram and endoscopic examination showed an upper esophageal web, and laboratory examination revealed iron deficiency anemia. Dysphagia improved after endoscopic balloon dilatation, and iron deficiency anemia improved after iron supplementation. Even Plummer-Vinson syndrome can be improved by sufficient amounts of oral ferrous sulfate and endoscopic balloon dilatation, it is important to identify the cause of iron deficiency anemia and to check for the presence of malignant disease. The common causes of anemia differ between middle-aged and elderly women, and the clinician needs to look for malignancy-induced chronic gastrointestinal tract blood loss and chronic inflammatory diseases. We report a rare case of Plummer- Vinson syndrome in a woman over 80 years of age.