Meningioma is a common neoplasm of the central nervous system; however, primary extracranial meningioma of the paranasal sinus, especially the maxillary sinus, is rare. We report a case of primary extracranial meningioma (fibrous type) of the maxillary sinus and present a literature review of the imaging features that correlate with fibrous meningioma.

Purpose: Breast cancer is one of the most common causes of cancer-related death in females. Numerous drug-targetable biomarkers and predictive biomarkers have been developed. Some researchers have expressed doubts about the need for next-generation sequencing (NGS) studies in daily practice. This study analyzed the results of NGS studies on breast cancer at a single institute and evaluated the real-world applications of NGS data to precision medicine for breast cancer. Materials and Methods: We retrospectively collected the results of NGS studies and analyzed the histopathologic features and genetic profiles of patients treated for breast cancer from 2010 to 2021. Seventy cases had data from CancerSCAN, a customized panel of 375 cancer-associated genes, and 110 cases had data from TruSight Oncology 500. Results: The most frequently detected single nucleotide variant was the TP53 mutation (123/180, 68.3%), followed by PIK3CA muta-tions (51/180, 28.3%). Estrogen receptor 1 (ESR1) mutation was detected in 11 patients (6.1%), of whom 10 had hormone receptor–positive, human epidermal growth factor receptor 2–negative breast cancer, and two had no history of prior endocrine therapy. Based on their NGS study results, 13 patients (7.2%) received target therapy. Among them, four patients had a BRCA1 or BRCA2 germline mutation, and nine patients had a PIK3CA mutation. Conclusion NGS can provide information about predictive biomarkers and drug-targetable biomarkers that can enable treatment and participation in clinical trials based on precision medicine. Further studies should be conducted to excavate novel drug-targetable biomarkers and develop additional target therapies.

BACKGROUND: Restless-legs syndrome (RLS) is known to be caused by dopaminergic hypofunction in the brain. We investigated whether antipsychotics that act as antidopaminergics increase the risk of RLS. METHODS: We prospectively recruited 72 schizophrenic patients who had been medicated with antipsychotic drugs in a psychiatry clinic. We evaluated RLS diagnostic criteria and basic sleep habits using the Epworth Sleepiness Scale and Pittsburgh Sleep Quality Index by face-to-face interviews using a structured questionnaire. We also applied the Unified Parkinson's Disease Rating Scale to evaluate extrapyramidal symptoms. RESULTS: Three of the 72 patients (4.2%) met RLS criteria, which is similar to the previously reported RLS incidence among the general population in Korea. CONCLUSIONS: There is no evidence that antipsychotics increase the risk of RLS. We believe that the mild antidopaminergic effect of antipsychotics does not overwhelm their prominent antipsychotic effect.
Antipsychotic Agents ; Brain ; Humans ; Incidence ; Parkinson Disease ; Prospective Studies ; Surveys and Questionnaires ; Restless Legs Syndrome ; Risk Factors ; Schizophrenia

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

PURPOSE: The Mycobacterium tuberculosis complex comprises M. tuberculosis, M. bovis, M. bovis bacillus Calmette-Guerin (BCG) and M. africanum, and causes tuberculosis in humans and animals. Identification of Mycobacterium spp. and M. tuberculosis complex to the species level is important for practical use in microbiological laboratories, in addition to optimal treatment and public health. MATERIALS AND METHODS: A novel multiplex PCR assay targeting a conserved rpoB sequence in Mycobacteria spp., as well as regions of difference (RD) 1 and RD8, was developed and evaluated using 37 reference strains and 178 clinical isolates. RESULTS: All mycobacterial strains produced a 518-bp product (rpoB), while other bacteria produced no product. Virulent M. tuberculosis complex strains, M. tuberculosis, M. bovis and M. africanum, produced a 254-bp product (RD1), while M. bovis BCG, M. microti and nontuberculous mycobacteria produced no RD1 region product. Additionally, M. tuberculosis and M. africanum produced a 150-bp product (RD8), while M. bovis and M. bovis BCG produced a 360-bp product (deleted form of RD8). M. microti and nontuberculous mycobacteria produced no RD8 region product. This assay identified all Mycobacterium spp. and all M. tuberculosis complex strains to the species level. CONCLUSION: The multiplex PCR assay of the present study could be implemented as a routine test in microbiology laboratories, and may contribute to more effective treatment and surveillance of tuberculosis stemming from the M. tuberculosis complex.
Animals ; Cattle ; Classification/methods ; DNA Primers ; Genes, Bacterial ; Humans ; Multiplex Polymerase Chain Reaction/*methods ; Mycobacterium/classification/genetics/*isolation & purification ; Mycobacterium tuberculosis/classification/genetics/*isolation & purification ; Species Specificity

Congenital defects of the pericardium, which are generally asymptomatic, are rare disorders characterized by complete or partial absence of the pericardium. Here, we report a rare case of a 19-year-old male who was incidentally diagnosed with congenital absence of the left pericardium during examination for symptoms of pneumothorax. Chest radiography and CT revealed a collapsed left lung without any evidence of trauma, no unusual findings of free air spaces along the right side of the ascending aorta, heart shifted toward the left side of the thorax, and a shallow chest. Subsequent thoracoscopy confirmed the absence of the left pericardium and displacement of the heart toward the left thoracic cavity. We further discuss the correlation between radiologic images and surgical findings of a congenital pericardial defect associated with spontaneous pneumothorax.

Congenital defects of the pericardium, which are generally asymptomatic, are rare disorders characterized by complete or partial absence of the pericardium. Here, we report a rare case of a 19-year-old male who was incidentally diagnosed with congenital absence of the left pericardium during examination for symptoms of pneumothorax. Chest radiography and CT revealed a collapsed left lung without any evidence of trauma, no unusual findings of free air spaces along the right side of the ascending aorta, heart shifted toward the left side of the thorax, and a shallow chest. Subsequent thoracoscopy confirmed the absence of the left pericardium and displacement of the heart toward the left thoracic cavity. We further discuss the correlation between radiologic images and surgical findings of a congenital pericardial defect associated with spontaneous pneumothorax.

Non-alcoholic fatty liver disease (NAFLD) is accepted as a counterpart to alcohol-related liver disease because it is defined as hepatic steatosis without excessive use of alcohol. However, the definition of moderate alcohol consumption, as well as whether moderate alcohol consumption is beneficial or detrimental, remains controversial. In this review, the findings of clinical studies to date with high-quality evidence regarding the effects of moderate alcohol consumption in NAFLD patients were compared and summarized.

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked genetic condition caused by a gain-of-function mutation of arginine vasopressin receptor 2 gene, AVPR2. We report the case of a male neonate diagnosed with NSIAD based on his DNA sequence of the AVPR2 gene and the clinical course. He demonstrated a complete correction of hyponatremia using oral urea. We suggest that (1) sequencing analysis of the AVPR2 gene ought to be done in newborns with prolonged euvolemic hyponatremia, hypo-osmolality, high urinary sodium and normal/low or undetectable AVP levels, and that (2) oral urea is a safe and effective treatment option in infants diagnosed with NSIAD until the patients are grown-up.