Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.
Cartilage ; Cleft Palate ; Collagen Type II ; Congenital Abnormalities ; Connective Tissue ; Dwarfism ; Hearing Loss ; Humans ; Joints ; Parturition ; Plagiocephaly ; Spine

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.
Cartilage ; Cleft Palate ; Collagen Type II ; Congenital Abnormalities ; Connective Tissue ; Dwarfism ; Hearing Loss ; Humans ; Joints ; Parturition ; Plagiocephaly ; Spine

Three cases of subacute necrotizing lymphadenitis diagnosed by fine needle aspiration(FNA) of enlarged lymph nodes are reported. The FNA smears contained randomly activated lymphoid cells, necrotic debris and histiocytes. The same patterns were found in subsequently examined excised lymph nodes from these cases. The differential diagnosis of this entity is discussed and the value of preparing FNA cell blocks and accompanying AFB stain with culture is emphasized.
Biopsy, Fine-Needle* ; Diagnosis, Differential ; Histiocytes ; Lymph Nodes ; Lymphadenitis* ; Lymphocytes ; Needles

Epilepsy is associated with an increased risk of premature death. Epilepsy-related premature mortality imposes a significant burden on public health. This review aims to update the previous assessments of mortality among people with epilepsy and to identify associated factors, causes of death, and preventable causes of death in epilepsy patients. We also reviewed the mortality of epilepsy patients who had undergone epilepsy surgery. Finally, we suggest a further direction of studies about the mortality of people with epilepsy.

Acute necrotizing encephalopathy (ANE) is a rare but distinctive type of influenza-associated encephalopathy characterized by symmetric multiple lesions with an invariable thalamic involvement. Although the exact pathogenesis of ANE remains unclear, the most prevalent hypothesis is the “cytokine storm,” which results in blood-brain-barrier breakdown. We present the case of a 10-year-old boy with fulminant ANE confirmed with serial MRI studies, including diffusion-weighted imaging and susceptibility-weighted imaging. A comparison of these serial images demonstrated detailed and longitudinal changes in MRI findings during the clinical course corresponding to pathophysiological changes. Our case clarifies the pathogenesis of ANE brain lesions using serial imaging studies and suggests that early immunomodulatory therapy reduces brain damage.

Acute necrotizing encephalopathy (ANE) is a rare but distinctive type of influenza-associated encephalopathy characterized by symmetric multiple lesions with an invariable thalamic involvement. Although the exact pathogenesis of ANE remains unclear, the most prevalent hypothesis is the “cytokine storm,” which results in blood-brain-barrier breakdown. We present the case of a 10-year-old boy with fulminant ANE confirmed with serial MRI studies, including diffusion-weighted imaging and susceptibility-weighted imaging. A comparison of these serial images demonstrated detailed and longitudinal changes in MRI findings during the clinical course corresponding to pathophysiological changes. Our case clarifies the pathogenesis of ANE brain lesions using serial imaging studies and suggests that early immunomodulatory therapy reduces brain damage.

Purpose: This study aimed to identify levels of perception and performance of end-oflife care among nurses and to investigate correlations between perception and performance. Methods: This cross-sectional descriptive survey included 321 nurses from a tertiary hospital in Seoul, Korea. The participants had at least 6 months of work experience and had been involved in end-of-life care at least once, in either ward or intensive care unit settings.A structured questionnaire was utilized to assess their perception and performance of endof-life care. Results: The mean score for perception of end-of-life care was 3.23±0.34, while the score for performance of end-of-life care was 3.08±0.34. There was a significant positive correlation between nurses’ perception of end-of-life care and their performance in this area (r=0.78, P＜0.001). Conclusion It is necessary to change perceptions regarding end-of-life care and to develop systematic and standardized education programs including content such as assessing the hydration status of dying patients, evaluating mental aspects such as suicidal ideation, and providing spiritual care for nurses working in end-of-life departments.

Background: We aimed to investigate mortality, severity, and risk of hospitalization in coronavirus disease 2019 (COVID-19) patients with cancer. Methods: Data of all patients aged 40–79 years from the Korean Disease Control and Prevention Agency-COVID19-National Health Insurance Service who were diagnosed with COVID-19 between January 1, 2020 and March 31, 2022, in Korea were included. After 1:1 propensity score matching, 397,050 patients with cancer and 397,050 patients without cancer were enrolled in the main analysis. A cancer survivor was defined as a patient who had survived 5 or more years since the diagnosis of cancer. Multiple logistic regression analysis was performed to compare the risk of COVID-19 according to the diagnosis of cancer and time since diagnosis. Results: Cancer, old age, male sex, incomplete vaccination against COVID-19, lower economic status, and a higher Charlson comorbidity index were associated with an increased risk of hospitalization, hospitalization with severe state, and death. Compared to patients without cancer, the adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for hospitalization, hospitalization with severe state, and death in patients with cancer were 1.09 (1.08–1.11), 1.17 (1.11–1.24), and 1.94 (1.84–2.05), respectively. Compared to patients without cancer, the ORs (95% CIs) for hospitalization in cancer survivors, patients with cancer diagnosed 2–5 years, 1–2 years, and < 1 year ago were 0.96 (0.94–0.98), 1.10 (1.07–1.13), 1.30 (1.25–1.34), and 1.82 (1.77–1.87), respectively; the ORs (95% CIs) for hospitalization for severe disease among these patients were 0.90 (0.85–0.97), 1.22 (1.12–1.32), 1.60 (1.43–1.79), and 2.29 (2.09–2.50), respectively. Conclusion The risks of death, severe state, and hospitalization due to COVID-19 were higher in patients with cancer than in those without; the more recent the diagnosis, the higher the aforementioned risks. Cancer survivors had a lower risk of hospitalization and hospitalization with severe disease than those without cancer.

Purpose: To evaluate the refractive outcomes after ultrathin Descemet stripping automated endothelial keratoplasty (UT-DSAEK) combined with phacoemulsification and intraocular lens implantation (triple procedure) in the South Korean population. Methods: This retrospective observational study included 37 eyes of 36 patients who underwent the UT-DSAEK triple procedure between 2012 and 2021 in a single tertiary hospital. Preoperative and postoperative refractive outcomes and endothelial parameters at 1, 3, 6, and 12 months were observed. Results: At the final postoperative 12-month period, the average best-corrected visual acuity was 0.4 ± 0.5 in logarithm of the minimum angle of resolution. The mean endothelial cell density at 12 months was 1,841.92 ± 731.24 cells/mm2, indicating no significant endothelial cell loss compared to the baseline (p = 0.128). The mean postoperative central corneal thickness at 12 months was 597.41 ± 86.26 μm. The postoperative mean absolute error at 12 months was 0.96 ± 0.89 diopters (D) and mean error was 0.89 ± 0.97 D. Conclusions The results of our South Korean cohort study on UT-DSAEK triple surgery showed favorable and safe outcomes. Regardless of graft thickness, it should be noted that a hyperopic shift of 1.00 to 2.00 D needs to be considered in the case of UT-DSAEK triple surgery.

Mature T-cell non-Hodgkin's lymphoma (NHL) has more frequent extranodal involvement and is less sensitive to chemotherapy than B-cell lymphoma. Peripheral T-cell lymphoma unspecified (PTCL-U) is rarely combined with pulmonary or CNS involvement. We report a case of PTCL-U with lung and CNS involvement that was treated with high-dose chemotherapy followed by autologous stem cell transplantation (ASCT). A 62-year-old man was admitted with right-side weakness and paresthesias, and was diagnosed with PTCL-U after alung biopsy. Successful complete remission was achieved after threecycles of IMEP (ifosfamide, methotrexate, etoposide, and prednisone) chemotherapywith concurrent intrathecal chemotherapy and subsequent high-dose chemotherapy with ASCT to treat potential advanced stage PTCL-U. The non-anthracycline-containing IMEP regimen can be effective for PTCL-U, especially in cases with CNS involvement.
Biopsy ; Central Nervous System ; Etoposide ; Humans ; Lung ; Lymphoma, B-Cell ; Lymphoma, Non-Hodgkin ; Lymphoma, T-Cell, Peripheral ; Methotrexate ; Middle Aged ; Paresthesia ; Stem Cell Transplantation ; T-Lymphocytes