Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents. Imperforate anus and partial cleft palate were found at birth, which were surgically repaired thereafter. There was no history of neonatal hypocalcemia, and karyotyping by GTG banding was normal. At the age of 11, hypocalcemia (serum calcium, 5.0 mg/dL) and decreased parathyroid hormone level (10.8 pg/mL) was noted when she visited our Emergency Department for fever and vomiting. The 22q11DS was suspected because of her mild mental retardation and velopharyngeal insufficiency, and a microdeletion on chromosome 22q11.2 was confirmed by fluorescence in situ hybridization. The 22q11DS should be considered in the differential diagnosis of hypocalcemia at any age because of its wide clinical spectrum.
22q11 Deletion Syndrome* ; Anal Canal* ; Anus, Imperforate ; Calcium ; Child* ; Cleft Palate ; Delayed Diagnosis* ; Diagnosis ; Diagnosis, Differential ; DiGeorge Syndrome ; Emergency Service, Hospital ; Female* ; Fever ; Fluorescence ; Heart Defects, Congenital ; Humans ; Hypocalcemia* ; Hypoparathyroidism ; In Situ Hybridization ; Intellectual Disability ; Karyotyping ; Parathyroid Hormone ; Parents ; Parturition ; Velopharyngeal Insufficiency ; Vomiting

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No abstract available.
Mastoid* ; Otitis Media with Effusion* ; Otitis Media* ; Otitis*

Kaposi's sarcoma may be associated with other neoplasm, and this may indicate that Kaposi's sarcoma is related with altered immunologic surveillance. There has been only one reported case of Kaposi's sarcoma with concomitant pancreatic cancer in Korea, but Kaposi's sarcoma with concomitant colon cancer has not been reported in Korea. We report here on a case of Kaposi's sarcoma with concomitant colon cancer in an 82-year-old Korean woman who had no other evidence of immunosuppression.
Aged, 80 and over ; Colon ; Colonic Neoplasms ; Female ; Humans ; Immunologic Surveillance ; Korea ; Pancreatic Neoplasms ; Sarcoma, Kaposi

Allergen-specific immunotherapy (SIT) reduces allergen specific IgE (sIgE) levels and achieves clinical and immunological tolerance by modulating innate and adaptive immunological responses. Increased temperature and CO2 concentrations caused by climate changes contribute to an increase of pollen count and allergenicity that influences clinical SIT outcomes. In this study, we investigated the changes of IgE binding components to tree and weed pollens in pollinosis patients who showed a paradoxical increase of serum sIgE level during pollen-SIT. We enrolled nine patients who showed an increasing pattern of serum sIgE level to alder, birch, ragweed and mugwort pollens by enzyme-linked immunosorbant assay. IgE immunoblot analysis confirmed the intensification or new generation of major IgE binding components that could be induced by climate change. The findings suggest that the regular monitoring of sIgE levels and symptom changes is required to improve the clinical outcomes of SIT in patients undergoing SIT for tree and weed pollens.
Adult ; Climate Change ; *Desensitization, Immunologic ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Immunoglobulin E/*blood ; Male ; Middle Aged ; Pollen/immunology ; Rhinitis, Allergic, Seasonal/*therapy ; Skin Tests ; Young Adult

We report herein a case of acquired periungual fibrokeratoma occuring beneath the proximal nail fold. A 0.5 X 0.3 cm sized, firm nodule was found beneath the proximal nail fold and at its distal portion longitudinal ridging of nail plate was found. Histopathological finding showed marked hyperkeratosis and acanthosis in the epidermis and thick collagen bundles were predominantly oriented in the direction of longitudinal axis of the tumor.
Axis, Cervical Vertebra ; Collagen ; Epidermis

PURPOSE: Esophageal tolerance is needed to guide the safe administration of stereotactic radiosurgery (SRS). We evaluated comprehensive dose-volume parameters of acute esophageal toxicity in patients with spinal metastasis treated with SRS. MATERIALS AND METHODS: From May 2008 to May 2011, 30 cases in 27 patients with spinal metastasis received single fraction SRS to targets neighboring esophagus. Endpoints evaluated include length (mm), volume (mL), maximal dose (Gy), and series of dose-volume thresholds from the dose-volume histogram (volume of the organ treated beyond a threshold dose). RESULTS: The median time from the start of irradiation to development of esophageal toxicity was 2 weeks (range, 1 to 12 weeks). Six events of grade 1 esophageal toxicity occurred. No grade 2 or higher events were observed. V15 of external surface of esophagus was found to predict acute esophageal toxicity revealed by multivariate analysis (odds radio = 1.272, p = 0.047). CONCLUSION: In patients with spinal metastasis who received SRS for palliation of symptoms, the threshold dose-volume parameter associated with acute esophageal toxicity was found to be V15 of external surface of esophagus. Restrict V15 to external surface of esophagus as low as possible might be safe and feasible in radiosurgery.
Esophagus ; Humans ; Multivariate Analysis ; Neoplasm Metastasis ; Radiation Tolerance ; Radiosurgery*

BACKGROUND/AIMS: Some factors like stent wires, balloon dilatation and use of guide wires seems to increase perforation after self-expandable metal stent (SEMS) placement, but few studies mentioned about the relationship between angulation of malignant stricture and perforation. The present study aimed to confirm that more angular positioning of stents increases perforation. METHODS: This study was conducted with retrospectively evaluation at Digestive Disease Center, CHA Bundang Medical Center, CHA University. Between January 2002 and August 2011, SEMS was inserted in 130 patients with malignant colorectal obstruction. We studied the difference in the angle of stenosis between perforation and non-perforation groups using fluorography images. RESULTS: SEMS insertion was performed in 130 cases of obstruction due to colon cancer. Perforation occurred in eight patients (6.2%) of them. Thirteen cases were excluded from the analysis due to poor fluoroscopic images. Among the eight patients with perforation, the mean stenosis angle was 109.9degrees compared to 153.1degrees in the nonperforation group, indicating that the angle was more acute in the perforation group (p=0.016). CONCLUSIONS: This study shows that more angular positioning of stent increases bowel perforation after SEMS placement for malignant colorectal obstruction.
Colonic Neoplasms ; Constriction, Pathologic ; Dilatation ; Humans ; Intestinal Perforation ; Retrospective Studies ; Stents

Increasing importance of vaccination during coronavirus disease 2019 (COVID-19) pandemic, several vaccines were developed. Messenger RNA (mRNA) vaccines including BNT162b2 (Pfizer, New York, NY, USA; BioNTech, Mainz, Germany), mRNA-1273 (Moderna, Cambridge, MA, USA) have been disclosed side effects such as thrombocytopenia, myocarditis and headache in general. In addition, adverse effects due to autoimmune responses induced by spike glycoproteins of mRNA vaccines are rarely reported such as the Guillain-Barre syndrome, autoimmune encephalitis and so on. Herein, we report a rare case of encephalitis with new-onset refractory status epilepticus after BNT162b2 mRNA COVID-19 vaccination improved with immune therapy.