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

No abstract available.
Hyperplasia* ; Melanoma*

The explosive development of genomics technologies including microarrays and next generation sequencing (NGS) has provided comprehensive maps of cancer genomes, including the expression of mRNAs and microRNAs, DNA copy numbers, sequence variations, and epigenetic changes. These genome-wide profiles of the genetic aberrations could reveal the candidates for diagnostic and/or prognostic biomarkers as well as mechanistic insights into tumor development and progression. Recent efforts to establish the huge cancer genome compendium and integrative omics analyses, so-called "integromics", have extended our understanding on the cancer genome, showing its daunting complexity and heterogeneity. However, the challenges of the structured integration, sharing, and interpretation of the big omics data still remain to be resolved. Here, we review several issues raised in cancer omics data analysis, including NGS, focusing particularly on the study design and analysis strategies. This might be helpful to understand the current trends and strategies of the rapidly evolving cancer genomics research.
Coat Protein Complex I ; DNA ; Epigenomics ; Genome ; Genomics ; MicroRNAs ; Population Characteristics ; Research Design ; RNA, Messenger ; Statistics as Topic ; Biomarkers

The explosive development of genomics technologies including microarrays and next generation sequencing (NGS) has provided comprehensive maps of cancer genomes, including the expression of mRNAs and microRNAs, DNA copy numbers, sequence variations, and epigenetic changes. These genome-wide profiles of the genetic aberrations could reveal the candidates for diagnostic and/or prognostic biomarkers as well as mechanistic insights into tumor development and progression. Recent efforts to establish the huge cancer genome compendium and integrative omics analyses, so-called "integromics", have extended our understanding on the cancer genome, showing its daunting complexity and heterogeneity. However, the challenges of the structured integration, sharing, and interpretation of the big omics data still remain to be resolved. Here, we review several issues raised in cancer omics data analysis, including NGS, focusing particularly on the study design and analysis strategies. This might be helpful to understand the current trends and strategies of the rapidly evolving cancer genomics research.
Coat Protein Complex I ; DNA ; Epigenomics ; Genome ; Genomics ; MicroRNAs ; Population Characteristics ; Research Design ; RNA, Messenger ; Statistics as Topic ; Biomarkers

Insomnia is a common sleep-related symptom which occurs in many populations, however, the neural mechanism underlying insomnia is not yet known. The hyperarousal model explains the neural mechanism of insomnia to some extent, and the frontal cortex dysfunction has been known to be related to primary insomnia. In this review, we discuss studies that applied resting state and/or task-related functional magnetic resonance imaging to demonstrate the deficits/dysfunctions of functional activation and network in primary insomnia. Empirical evidence of the hyperarousal model and proposed relation between the frontal cortex and other brain regions in primary insomnia are examined. Reviewing these studies could provide critical insights regarding the pathophysiology, brain network and cerebral activation in insomnia and the development of novel methodologies for the diagnosis and treatment of insomnia.
Brain ; Diagnosis ; Frontal Lobe* ; Magnetic Resonance Imaging* ; Sleep Initiation and Maintenance Disorders*

BACKGROUND: This study aims to evaluate the importance of snacks to a balanced diet by assessing snack consumption patterns and factors associated with eating snacks of Korean elders of 60 years or more. METHODS: This analysis is based on participants from the 2013-2014 Korea National Health and Nutrition Examination Survey. Meal or snack consumption was based on a 24 hours recall data, and the adequacy of each nutrient intake was based on the Dietary Reference Intakes by the Korea Nutrition Society. The cutoff for snack consumption valued as meaningful was more than 200 kcal/day of snack energy intake. RESULTS: Korean male elders of age 60 years or more are consuming 333.6±11.1 kcal of snack and 271.7±7.4 kcal for females. When consumed together with meals, snack consumption increased the adequacy of all nutrients intake, except sodium. Based on energy contribution, male Korean elders are consuming snack food group in order of beverage and alcohols, grains, and fruits, while for females the order was grains, fruits, and dairy. Older age (men and women), joblessness (men), and chronic disease (women) were positively associated with having snack of 200 kcal or more per day, whereas ‘living with a partner (men)’, alcohol intake frequency of more than twice per week (men), and ‘doing regular aerobic physical activity (women)’ showed negative association. CONCLUSIONS: Snack consumption of Korean elders contributed to more adequate nutritional status, but improvement of food groups is needed because they were mainly concentrated on grains.
Aged* ; Alcohols ; Beverages ; Chronic Disease ; Diet ; Eating ; Energy Intake ; Female ; Fruit ; Humans ; Korea* ; Male ; Meals ; Motor Activity ; Nutrition Surveys* ; Nutritional Status ; Recommended Dietary Allowances ; Snacks* ; Sodium

A 32-year-old man is being presented with a 1-week history of erythematous annular flat plaque with scales on his scalp. He displays only a solitary skin lesion on his scalp without any presence or other histories for other skin lesions or constitutional symptoms. It is difficult to consider the possibilities of syphilis based on such clinical findings. A diagnosis of syphilid is being made on the basis of clinical, serological and histological findings. Herein, we report an interesting case of secondary syphilis which is presented as a solitary annular plaque on the scalp.
Adult ; Diagnosis ; Humans ; Scalp* ; Skin ; Syphilis* ; Syphilis, Cutaneous ; Weights and Measures

Spitzoid melanoma is a subtype of melanoma that, clinically and histologically, resembles a Spitz nevus. Clinically, spitzoid melanomas usually evolve from amelanotic nodular lesions, growing to 1 cm or more in diameter. They often remain clinically undiagnosed because of their wide variety of clinical appearances and a lack of pigmentation. Distinguishing a Spitz nevus from a spitzoid melanoma can be extremely difficult. Features that favor the diagnosis of a spitzoid melanoma are asymmetrical shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. There have been only rare reports in the literature of the presence of giant cells in malignant melanoma, and the presence of these cells may result in its misdiagnosis as a histiocytic tumor. We present a case of spitzoid melanoma on the right ankle of a 22-year-old-woman.
Ankle ; Diagnosis ; Diagnostic Errors ; Giant Cells ; Melanoma* ; Nevus, Epithelioid and Spindle Cell ; Pigmentation

Cutaneous metastasis into the umbilicus, known as a Sister Mary Joseph nodule, is quite rare. Gastric adenocarcinoma is the most common primary origin overall, whereas gynecologic tumors such as ovarian cancer are the leading cause in women. In most cases, the nodule manifests after the primary tumor had been diagnosed. In rare cases, however, it serves as the first sign of the underlying malignancy. Here, we report the case of a 59-year-old woman who presented with a nodule on the umbilicus and was diagnosed with metastatic adenocarcinoma originating in the gallbladder.
Adenocarcinoma ; Female ; Gallbladder Neoplasms ; Gallbladder* ; Humans ; Middle Aged ; Neoplasm Metastasis* ; Ovarian Neoplasms ; Siblings* ; Umbilicus

OBJECTIVE: This study was conducted to evaluate the validity of the International Classification of Diseases, 10th revision (ICD-10) codes for identifying patients who suffered out-of-hospital cardiac arrest (OHCA). METHODS: Consecutive data pertaining to adult patients who suffered OHCA or received ICD-10 codes for cardiac arrest were collected. Patient characteristics and clinical data during the period from January 2015 to December 2016 were obtained. The sensitivity and positive predictive value (PPV) of each code for identifying OHCA were calculated and an optimal algorithm using diagnostic and procedure codes to detect OHCA patients was selected. The kappa coefficient was calculated to examine the agreement between algorithm-detected cases and true OHCA patients. RESULTS: A total of 397 patients were included in this study. The single use of ICD-10 codes was an insensitive method for identifying OHCA patients. Combination of diagnostic codes and procedure codes showed a good sensitivity (98.6%) and PPV (94.8%) for identifying OHCA patients. The agreement between the optimal algorithm and true OHCA was excellent (κ=0.970). CONCLUSION: Using ICD-10 codes for identifying OHCA patients is an insensitive method. The combination of ICD-10 codes and procedure codes can be an alternative search method.
Adult ; Heart Arrest ; Humans ; International Classification of Diseases ; Methods ; Out-of-Hospital Cardiac Arrest