Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male fetus was therapeutically aborted at 17(+0) weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2-->4pter and gain of 18q21.1-->18qter, suggesting 46,XY,der(4)t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.
Arm ; Autopsy ; Birth Weight ; Chromosomes, Human, Pair 4 ; Comparative Genomic Hybridization ; Fathers ; Fetal Growth Retardation ; Fetus ; Foot ; Gestational Age ; Hernia, Diaphragmatic ; Humans ; Karyotype ; Karyotyping ; Lung ; Male ; Mothers ; Neck ; Ultrasonography, Prenatal ; Wolf-Hirschhorn Syndrome

BACKGROUND: In Korea, medical institutions make claims for insurance reimbursement to the Health Insurance Review and Assessment Service (HIRA). Thus, HIRA databases reflect the general medical services that are provided in Korea. We conducted two pathology-related studies using a HIRA national patient sample (NPS) data (selection probability, 0.03). First, we evaluated the current status of general pathologic examination in Korea. Second, we evaluated pathologic issues associated with endoscopic submucosal dissection (ESD). METHODS: The sample data used in this study was HIRA-NPS-2013-0094. RESULTS: In the NPS dataset, 163,372 pathologic examinations were performed in 103,528 patients during the year 2013. Considering sampling weight (33.3), it is estimated that 5,440,288 (163,372 × 33.3) pathologic examinations were performed. Internal medicine and general surgery were the most common departments requesting pathologic examinations. The region performing pathologic examinations were different according to type of medical institution. In total, 490 patients underwent ESD, and 43.4% (213/490) underwent ESD due to gastric carcinoma. The results of the ESD led to a change in disease code for 10.5% (29/277) of non-gastric carcinoma patients. In addition, 21 patients (4.3%) underwent surgery following the ESD. The average period between ESD and surgery was 44 days. CONCLUSIONS: HIRA sample data provide the nation-wide landscape of specific procedure. However, in order to reduce the statistical error, further studies using entire HIRA data are needed.
Dataset ; Humans ; Insurance ; Insurance, Health ; Internal Medicine ; Korea ; Pathology ; Pathology, Surgical* ; Sample Size

BACKGROUND: Pathologic examinations play an important role in medical services. Until recently, the overall status of pathologic examinations in Korea has not been identified. I conducted a nationwide survey of pathologic examination status using the insurance reimbursements (IRs) dataset from the Health Insurance Review and Assessment Service (HIRA). The aims of this study were to estimate current pathologic examination status in Korea and to provide information for future resource arrangement in the pathology area. METHODS: I asked HIRA to provide data on IR requests, including pathologic examinations from 2011 to 2015. Pathologic examination status was investigated according to the following categories: annual statistics, requesting department, type of medical institution, administrative district, and location at which pathologic examinations were performed. RESULTS: Histologic mapping, immunohistochemistry, and cervicovaginal examinations have increased in the last 5 years. Internal medicine, general surgery, obstetrics/gynecology, and urology were the most common medical departments requesting pathologic examinations. The majority of pathologic examinations were frequently performed in tertiary hospitals. About 60.3% of pathologic examinations were requested in medical institutions located in Seoul, Gyeonggi-do, and Busan. More than half of the biopsies and aspiration cytologic examinations were performed using outside services. The mean period between IR requests and 99 percentile IR request completion inspections was 6.2 months. CONCLUSIONS: This survey was based on the HIRA dataset, which is one of the largest medical datasets in Korea. The trends of some pathologic examinations were reflected in the policies and needs for detailed diagnosis. The numbers and proportions of pathologic examinations were correlated with the population and medical institutions of the area, as well as patient preference. These data will be helpful for future resource arrangement in the pathology area.

Traumatic neuroma results from regeneration attempts of the proximal end of an injured or severed nerve, resulting in a non-neoplastic nodular lesion. The lower extremity after amputation is the most common site, followed by the head and neck. Traumatic neuromas occurring in the abdomen, however, are rare. In the abdominal region, traumatic neuromas occur in the cystic duct stump and the common bile ducts as well as around the celiac trunk. This study reports a case of a 59-year-old man who presented with a traumatic neuroma arising at the stump of the inferior mesenteric artery after rectal cancer surgery. Traumatic neuromas at the stump of the inferior mesenteric artery have not been previously reported. The lesion exhibited atypical imaging features, including a well-enhanced nodule, a significant interval growth in size and a mild increase in 18F-fluorodeoxyglucose uptake, resembling lymph node metastasis. This case report will help physicians understand the sites of occurrence and imaging features of traumatic neuromas in the abdomen.
Abdomen ; Amputation ; Common Bile Duct ; Cystic Duct ; Head ; Humans ; Lower Extremity ; Lymph Nodes ; Mesenteric Artery, Inferior* ; Middle Aged ; Neck ; Neoplasm Metastasis ; Neuroma* ; Rectal Neoplasms* ; Regeneration

Background: Adverse drug reactions (ADRs) to first-line anti-tuberculosis (TB) drugs are common; however, there have been few reports of nationwide epidemiologic studies on ADRs to anti-TB drugs in Korea. This study aimed to investigate the clinical characteristics of various ADRs to first-line anti-TB drugs using a nationwide database of ADRs. Methods: We used the Korea Adverse Event Reporting System (KAERS) database (2009– 2018). The study subjects were selected using the Korean Standard Classification of Diseases codes for pulmonary and extrapulmonary TB and electronic data interchange codes for isoniazid (INH), rifampicin (RIF), ethambutol (ETB), and pyrazinamide (PZA). The causality assessment of “possible,” “probable,” or “certain” by World Health Organization-Uppsala Monitoring Center System causality category was selected. Results: A total of 1,562,024 ADRs were reported in the KIDS-KAERS database from 2009 to 2018, where ADRs to first-line anti-TB drugs were 17,843 cases (1.14%). The most common causative drugs were RIF (28.7%), INH (24.0%), ETB (23.4%), and PZA (23.9%) in that order. 48.5% of cases were reported in the older patients (≥ 60 years). According to organ system, gastro-intestinal system disorder was most common (32.0%), followed by skin and appendage (25.9%), liver and biliary system (14.2%). Nausea was the most common ADR (14.6%), followed by hepatic enzyme elevation (14.2%), rash (11.7%), pruritus (9.1%), vomiting (8.9%), and urticaria (4.2%). Most ADRs appeared within 1 month, but ADRs such as neuropathy, paresthesia, hematologic abnormalities, renal function abnormalities and liver enzyme abnormality were also often reported after 2 months. Conclusion Our data are clinically informative for recognizing and coping with ADRs of antiTB drugs.

Purpose: Preterm infants are known to be at a risk of neurodevelopmental delay; however, limited data are available on the outcomes of moderate-to-late preterm (MLPT) infants (born at 32 to 36 weeks’ gestation). The Korean Developmental Screening Test (K-DST) for infants and children is a recently designed screening test for Korean infants and children. The current study aimed to evaluate the neurodevelopmental outcomes of MLPT infants and investigate the risk factors associated with neurodevelopmental delay. Methods: A total of 119 MLPT infants admitted to a neonatal intensive care unit (NICU) of a tertiary hospital in Korea were enrolled. The infants were assessed during two follow-up periods (first: 16 to 24 months of corrected age; second: 24 to 41 months of corrected age). The perinatal factors in the NICU that were associated with delayed development were analyzed. Results: In all sections of the K-DST, the proportion of infants with developmental delay was higher in the second period (5.6% to 9.3%) than in the first period (0.9% to 5.4%). A total of 10% to 17% of the infants presented with persistent delay throughout the two periods based on five sections of the K-DST. Male sex, oxygen therapy duration, and younger maternal age were the risk factors affecting at least one section during the second period. Conclusion MLPT infants showed greater developmental delay than the general infant population. Considering that early intervention is important for good longterm outcomes, close observation of male MLPT infants and MLPT infants who received oxygen therapy is warranted.

Pulmonary adenofibroma is a rare tumor, with a few reported cases in the literature. Radiologically, the lesion appears as a solitary pulmonary nodule in most cases, and the multiplicity of this disease entity is extremely rare. We present an unusual case of pulmonary adenofibroma in a 71-year-old woman manifested as two nodules in different lobes of the lung on CT. Histopathological and immunohistochemical examinations are needed to establish the definitive diagnosis of pulmonary adenofibroma.

Purpose: Preterm infants are known to be at a risk of neurodevelopmental delay; however, limited data are available on the outcomes of moderate-to-late preterm (MLPT) infants (born at 32 to 36 weeks’ gestation). The Korean Developmental Screening Test (K-DST) for infants and children is a recently designed screening test for Korean infants and children. The current study aimed to evaluate the neurodevelopmental outcomes of MLPT infants and investigate the risk factors associated with neurodevelopmental delay. Methods: A total of 119 MLPT infants admitted to a neonatal intensive care unit (NICU) of a tertiary hospital in Korea were enrolled. The infants were assessed during two follow-up periods (first: 16 to 24 months of corrected age; second: 24 to 41 months of corrected age). The perinatal factors in the NICU that were associated with delayed development were analyzed. Results: In all sections of the K-DST, the proportion of infants with developmental delay was higher in the second period (5.6% to 9.3%) than in the first period (0.9% to 5.4%). A total of 10% to 17% of the infants presented with persistent delay throughout the two periods based on five sections of the K-DST. Male sex, oxygen therapy duration, and younger maternal age were the risk factors affecting at least one section during the second period. Conclusion MLPT infants showed greater developmental delay than the general infant population. Considering that early intervention is important for good longterm outcomes, close observation of male MLPT infants and MLPT infants who received oxygen therapy is warranted.

Pulmonary adenofibroma is a rare tumor, with a few reported cases in the literature. Radiologically, the lesion appears as a solitary pulmonary nodule in most cases, and the multiplicity of this disease entity is extremely rare. We present an unusual case of pulmonary adenofibroma in a 71-year-old woman manifested as two nodules in different lobes of the lung on CT. Histopathological and immunohistochemical examinations are needed to establish the definitive diagnosis of pulmonary adenofibroma.

Undifferentiated pleomorphic sarcoma (UPS) arising from the descending thoracic aorta is a rare type of tumor. To our knowledge, only a few cases have been reported in the literature. We present computed tomography (CT) and magnetic resonance imaging findings of a 43-year-old male patient with undifferentiated pleomorphic sarcoma of the descending thoracic aorta, which showed enhancement on only magnetic resonance imaging (MRI). MRI with contrast enhancement may be useful in differentiating an aortic tumor from atherosclerotic disease.
Adult ; Aneurysm, False ; Aorta, Thoracic ; Hematoma ; Humans ; Magnetic Resonance Imaging ; Male ; Sarcoma