Cranial nerve palsies are relatively common after trauma, but trochlear nerve palsy is relatively uncommon. Although traumatic trochlear nerve palsy is easy to diagnose clinically because of extraocular movement disturbances, radiologic evaluations of this condition are difficult to perform because of the nerve's small size. Here, we report the case of a patient with delayed traumatic trochlear nerve palsy associated with a traumatic subarachnoid hemorrhage (SAH) and the related radiological findings, as obtained with high-resolution three-dimensional (3D) magnetic resonance imaging (MRI). A 63-year-old woman was brought to the emergency room after a minor head trauma. Neurologic examinations did not reveal any focal neurologic deficits. Brain computed tomography showed a traumatic SAH at the left ambient cistern. The patient complained of vertical diplopia at 3 days post-trauma. Ophthalmologic evaluations revealed trochlear nerve palsy on the left side. High-resolution 3D MRI, performed 20 days post-trauma, revealed continuity of the trochlear nerve and its abutted course by the posterior cerebral artery branch at the brain stem. Chemical irritation due to the SAH and the abutting nerve course were considered causative factors. The trochlear nerve palsy completely resolved during follow-up. This case shows the usefulness of high-resolution 3D MRI for evaluating trochlear nerve palsy.
Brain ; Brain Stem ; Cranial Nerve Diseases ; Craniocerebral Trauma ; Diplopia ; Emergency Service, Hospital ; Female ; Follow-Up Studies ; Humans ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging* ; Middle Aged ; Neurologic Examination ; Neurologic Manifestations ; Posterior Cerebral Artery ; Subarachnoid Hemorrhage, Traumatic* ; Trochlear Nerve Diseases* ; Trochlear Nerve*

Primary cilia and autophagy are two distinct nutrient-sensing machineries required for maintaining intracellular energy homeostasis, either via signal transduction or recycling of macromolecules from cargo breakdown, respectively. Potential correlations between primary cilia and autophagy have been recently suggested and their relationship may increase our understanding of the pathogenesis of human diseases, including ciliopathies and cancer. In this review, we cover the current issues concerning the bidirectional interaction between primary cilia and autophagy and discuss its role in cancer with cilia defect.
Autophagy ; Cilia ; Homeostasis ; Humans ; Recycling ; Signal Transduction

Despite the modern advance in effective chemotherapy, gastrointestinal tuberculosis is considered to be relatively frequent in developing countries. The ileocecal region is the most common site of intestinal tuberculosis and duodenal involvement is rare. The isolated duodenal tuberculosis are reported 9 cases in Korea. The symptoms and signs of gastrointestinal tuberculosis are nonspecific and vague. In the absence of pulmonary tuberculosis, the diagnosis may be difficult. Pain and vomiting are common symptoms of duodenal tuberculosis. Patients may present with upper gastrointestinal bleeding. Therefore, tuberculosis should be considered in the differential diagnosis of gastrointestinal bleeding. We herein report a case of duodenal tuberculosis presenting as hematemesis and necessitating hospitalization. After anti-tuberculosis therapy, we have confirmed the healing of the lesion by the follow-up endoscopy, and review the current literature.
Developing Countries ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Endoscopy ; Follow-Up Studies ; Hematemesis* ; Hemorrhage ; Hospitalization ; Humans ; Korea ; Tuberculosis* ; Tuberculosis, Gastrointestinal ; Tuberculosis, Pulmonary ; Vomiting

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by formation of multiple fluid-filled cysts that expand over time and destroy renal architecture. The proteins encoded by the PKD1 and PKD2 genes, mutations in which account for nearly all cases of ADPKD, may help guard against cystogenesis. Previously developed mouse models of PKD1 and PKD2 demonstrated an embryonic lethal phenotype and massive cyst formation in the kidney, indicating that PKD1 and PKD2 probably play important roles during normal renal tubular development. However, their precise role in development and the cellular mechanisms of cyst formation induced by PKD1 and PKD2 mutations are not fully understood. To address this question, we presently created Pkd2 knockout and PKD2 transgenic mouse embryo fibroblasts. We used a mouse oligonucleotide microarray to identify messenger RNAs whose expression was altered by the overexpression of the PKD2 or knockout of the Pkd2. The majority of identified mutations was involved in critical biological processes, such as metabolism, transcription, cell adhesion, cell cycle, and signal transduction. Herein, we confirmed differential expressions of several genes including aquaporin-1, according to different PKD2 expression levels in ADPKD mouse models, through microarray analysis. These data may be helpful in PKD2-related mechanisms of ADPKD pathogenesis.
Animals ; Biological Processes ; Cell Adhesion ; Cell Cycle ; Embryonic Structures ; Fibroblasts ; Kidney ; Mice ; Mice, Transgenic ; Microarray Analysis ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant ; Proteins ; RNA, Messenger ; Signal Transduction

Dieulafoy's lesion is an unusual cause of gastrointestinal hemorrhage that results from the erosion of an abnormally large submucosal artery. In most cases, the lesion is encountered in the proximal stomach within 6 cm of the gastroesophageal junction. However, similar lesions have been reported in the antrum, duodenum, colon, and rectum. In particular, jejunal Dieulafoy's lesion Dieulafoy's lesion is an unusual cause of gastrointestinal hemorrhage that results from the erosion of an abnormally large submucosal artery. In most cases, the lesion is encountered in the proximal stomach within 6 cm of the gastroesophageal junction. However, similar lesions have been reported in the antrum, duodenum, colon, and rectum. In particular, jejunal Dieulafoy's lesion is extremely rare. We report a case of jejunal Dieulafoy's lesion with recurrent and massive bleeding, which was diagnosed and treated with the double-balloon enteroscopy.
Arteries ; Colon ; Double-Balloon Enteroscopy* ; Duodenum ; Esophagogastric Junction ; Gastrointestinal Hemorrhage ; Hemorrhage ; Jejunum* ; Rectum ; Stomach

Dieulafoy's lesion is an unusual cause of gastrointestinal hemorrhage that results from the erosion of an abnormally large submucosal artery. In most cases, the lesion is encountered in the proximal stomach within 6 cm of the gastroesophageal junction. However, similar lesions have been reported in the antrum, duodenum, colon, and rectum. In particular, jejunal Dieulafoy's lesion Dieulafoy's lesion is an unusual cause of gastrointestinal hemorrhage that results from the erosion of an abnormally large submucosal artery. In most cases, the lesion is encountered in the proximal stomach within 6 cm of the gastroesophageal junction. However, similar lesions have been reported in the antrum, duodenum, colon, and rectum. In particular, jejunal Dieulafoy's lesion is extremely rare. We report a case of jejunal Dieulafoy's lesion with recurrent and massive bleeding, which was diagnosed and treated with the double-balloon enteroscopy.
Arteries ; Colon ; Double-Balloon Enteroscopy* ; Duodenum ; Esophagogastric Junction ; Gastrointestinal Hemorrhage ; Hemorrhage ; Jejunum* ; Rectum ; Stomach

Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients. Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior–Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement. In the remaining undiagnosed patients, we applied targeted exome sequencing of 34 ciliopathy-related genes to detect known pathogenic mutations in 7 (16.3%) of 43 patients. Another 18 likely damaging heterozygous variants were identified in 13 NPHP-RC genes in 18 patients. In this study, we report a variety of pathogenic and candidate mutations identified in 55 patients with NPHP-RC in Korea using a step-wise application of two genetic tests. These results support the clinical utility of targeted exome sequencing to resolve the issue of allelic and genetic heterogeneity in NPHP-RC.
Adolescent ; Diagnosis* ; Exome* ; Genetic Heterogeneity* ; Humans ; Kidney Failure, Chronic ; Korea ; Liver ; Mass Screening ; Wills

The phosphorylated 43-kDa transactive response DNA-binding protein (TDP-43) was identified as a major disease protein in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. We present a case with progressive muscle weakness who was diagnosed with sporadic ALS. On postmortem examination, TDP-43 immunoreactive neuronal cytoplasmic inclusions were noted in motor cortex, hippocampus and anterior horns of spinal cord, which was compatible with ALS-TDP, stage 4. This is the first documented autopsy-confirmed ALS case with ALS-TDP pathology in Korea.

Background/Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by fat accumulation in the liver. MASLD encompasses both steatosis and MASH. Since MASH can lead to cirrhosis and liver cancer, steatosis and MASH must be distinguished during patient treatment. Here, we investigate the genomes, epigenomes, and transcriptomes of MASLD patients to identify signature gene set for more accurate tracking of MASLD progression. Methods: Biopsy-tissue and blood samples from patients with 134 MASLD, comprising 60 steatosis and 74 MASH patients were performed omics analysis. SVM learning algorithm were used to calculate most predictive features. Linear regression was applied to find signature gene set that distinguish the stage of MASLD and to validate their application into independent cohort of MASLD. Results: After performing WGS, WES, WGBS, and total RNA-seq on 134 biopsy samples from confirmed MASLD patients, we provided 1,955 MASLD-associated features, out of 3,176 somatic variant callings, 58 DMRs, and 1,393 DEGs that track MASLD progression. Then, we used a SVM learning algorithm to analyze the data and select the most predictive features. Using linear regression, we identified a signature gene set capable of differentiating the various stages of MASLD and verified it in different independent cohorts of MASLD and a liver cancer cohort. Conclusions We identified a signature gene set (i.e., CAPG, HYAL3, WIPI1, TREM2, SPP1, and RNASE6) with strong potential as a panel of diagnostic genes of MASLD-associated disease.