Background: To identify the optimal surgical technique for single-level anterior cervical discectomy and fusion (ACDF), this study compared surgical outcomes and incidence of adjacent segment degeneration (ASD) in patients undergoing single-level ACDF using cage alone single-level fusion and plate fixation techniques. Methods: This single-center retrospective study (2003–2018) included patients who underwent single-level ACDF with either plate fixation (PLATE) or cage (CAGE) alone. The radiologic and clinical outcomes between the 2 surgical groups were compared over a 4-year follow-up period. Outcomes of interest included parameters related to range of motion, sagittal alignment, as well as fusion, subsidence, and ASD rates. Clinical outcomes were evaluated using the Neck Disability Index (NDI) and visual analog scale (VAS) for pain. Dysphagia and hoarseness rates were estimated based on medical records. Results: Forty-seven patients were included (n=17 in CAGE group). In the CAGE group, 94.1% of the patients had Bridwell grade 1 or 2, compared to 83.3% in the PLATE group (p = 0.396). Subsidence occurred in 12.5% and 3.6% of the CAGE and PLATE cases, respectively (p = 0.543). Segmental kyphosis progressed in the CAGE group compared to the PLATE group at 12, 24, and 48 months (p < 0.001). Radiographic ASD was observed in 41.2% and 30.0% of patients in the CAGE and PLATE groups, respectively, with a higher incidence in the upper segments for both groups. Preoperative NDI scores were similar between the groups; however, postoperatively, the CAGE group had significantly lower NDI scores (3.50 ± 2.74 vs. 8.00 ± 5.81) at 4 years (p = 0.020). Neck pain VAS scores also showed significant improvement in the CAGE group (2.33 ± 2.94) compared with that in the PLATE group (3.07 ± 2.31) at 4 years (p = 0.045). Both groups showed comparable arm pain VAS scores at 2 and 4 years postoperatively. Postoperative dysphagia occurred in 1 patient in the PLATE group, resolving almost completely by 1 year. Conclusions Single-level ACDF using a cage alone technique demonstrated favorable radiologic and clinical outcomes overall compared to plate-augmented ACDF. However, plate augmentation is recommended for patients with severe cervical kyphosis or those at high risk of subsidence.

Objective: To compare a deep learning (DL)-accelerated non-enhanced abbreviated MRI (AMRI DL) protocol with standard AMRI (AMRI STD) of the liver in terms of image quality and malignant focal lesion detection. Materials and Methods: This retrospective study included 155 consecutive patients (110 male; mean age 62.4 ± 11 years) from two sites who underwent standard liver MRI and additional AMRIDL sequences, specifically DL-accelerated single-shot fast-spin echo (SSFSE DL) and DL-accelerated diffusion-weighted imaging (DWIDL). Additional MRI phantom experiments assessed signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), and apparent diffusion coefficient (ADC) values. Three reviewers evaluated AMRIDL and AMRI STD protocols for image quality using a five-point Likert scale and identified malignant hepatic lesions. Image quality scores and per-lesion sensitivities were compared between AMRIDL and AMRI STD using the Wilcoxon signed-rank test and logistic regression with generalized estimating equations, respectively. Results: Phantom experiments demonstrated comparable SNR and higher CNR for SSFSE DL compared to SSFSE STD, with similar ADC values for DWIDL and DWI STD. Among the 155 patients, 130 (83.9%) had chronic liver disease or a history of intra- or extrahepatic malignancy. Of 104 malignant focal lesions in 64 patients, 58 (55.8%) were hepatocellular carcinomas (HCCs), 38 (36.5%) were metastases, four (3.8%) were cholangiocarcinomas, and four (3.8%) were lymphomas. The pooled per-lesion sensitivity across three readers was 97.6% for AMRIDL, comparable to 97.6% for AMRI STD. Compared with AMRI STD, AMRIDL demonstrated superior image quality regarding structural sharpness, artifacts, and noise (all P < 0.001) and reduced the average scan time by approximately 50% (2 min 29 sec vs. 4 min 11 sec). In patients with chronic liver disease, AMRIDL achieved a 96.6% per-lesion sensitivity for HCC detection, similar to 96.5% for AMRI STD (P > 0.05). Conclusion The AMRIDL protocol offers comparable sensitivity for detecting malignant focal lesions, including HCC while significantly enhancing image quality and reducing scan time by approximately 50% compared to AMRI STD.

Background: Sanger sequencing is a technology used to identify the gene sequence variants causing rare genetic disorders. However, designing and implementing a proficiency scheme for Sanger sequencing-based genetic testing is challenging because many molecular diagnostic laboratories are running sequencing tests for tens to hundreds of target genes. As such, we aimed to design and implement a method-based proficiency testing (PT) method for Sanger sequencing and to assess its feasibility in Korea. Methods: A pathogenic low density lipoprotein receptor (LDLR) variant was chosen as the positive PT material, and material without an LDLR variant was used as the negative PT material. We distributed the two PT materials with primer pair sets to 17 molecular diagnostic laboratories nationwide.We calculated the correct results (%) for variation type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Results: Fourteen laboratories responded to the survey. The results for the two PT materials were 100% correct for all evaluation points including variant type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Conclusions This pilot PT survey demonstrates a feasibility of using method-based PT for assessing the Sanger sequencing performance of molecular diagnostic laboratories in Korea.

Darier’s disease is characterized by greasy and scaly papules that primarily affect seborrheic and intertriginous areas which is caused by a mutation in the ATP2A2 gene. Histopathologically, the disease is characterized by acantholysis and dyskeratosis. Among the diverse presentations, the segmental type follows a linear distribution along the lines of Blaschko. Herein, we present a case of a 54-year-old male with generalized erythematous papules that had been linearly distributed across his body for two decades. Lesions on his trunk and extremities were confined to the right side, whereas those on the scalp and face exhibited multiple segmental presentations. Histopathological examination revealed acantholysis and dyskeratosis in the epidermis, confirming the diagnosis of type 1 segmental Darier’s disease. This case underscores the rarity of type 1 segmental Darier’s disease, particularly with multiple segmental involvement and highlights the complexity and variability of this dermatological condition.

Lichen amyloidosis is characterized by coalescent hyperpigmented papules with a predilection for the extremities and is accompanied by severe chronic pruritus. Various therapies have been attempted; however, there is no uniformly recognized effective treatment. In the first case, a 60-year-old man with a 37-year history of intractable itching presented with hyperkeratotic brown papules and coalescing plaques on the trunk and extensor surfaces of the extremities. The second case involved a 31-year-old man who presented with brownish macules and papules with a rippled pattern on the upper back and lower extremities. Histological examination of the lesions from both patients revealed epidermal hyperplasia and amorphous material deposited in the papillary dermis, which tested positive on Congo red staining. Although both patients were diagnosed with lichen amyloidosis, several treatment modalities showed limited efficacy. Subsequently, dupilumab, a treatment for severe pruritus, was administered to both patients, resulting in significant improvements.

A 34-year-old male with acne was presented with a 1-year history of multiple tiny subcutaneous nodules on his face, particularly on both cheeks. Physical examination revealed asymptomatic, palpable, and hard nodules with an acne scar. The skin lesions were more obvious when the cheeks were inflated. A skin biopsy revealed multiple focal bony trabeculae with osteoblasts in the dermis. A diagnosis of multiple miliary osteomas cutis was done. Multiple miliary osteoma cutis is a rare benign extraskeletal ossification that is considered relatively common and under-reported because of its asymptomatic behavior. Osteoma cutis is generally observed in middle-aged females with a history of acne. Male involvement rarely occurs, especially at a young age, as observed in this patient. Topical retinoids were prescribed, but the lesions did not abate at 3 months follow-up.

Traumatic tattoos are abnormal pigmentations caused by embedded foreign particles due to various injuries, including explosions, abrasions, or traffic accidents. Traumatic tattoos caused by pencils are common and considered trivial because they are usually confined to the injured site without any complications. A 4-year-old girl presented with a 5-month history of a grey-to-bluish patch on her left cheek. Histopathological examination revealed many pigment granules surrounding the blood vessels and appendages diffused from the mid to the lower dermis. Various staining methods were employed to verify that colorants caused the tattoo. To our knowledge, there have been no reports of traumatic tattoos caused by colored pencils that spread rapidly beyond the injured areas. In particular, various unexpected traumas can occur frequently in children; therefore, an accurate diagnosis is essential by differentiating it from other acquired pigmentary disorders

Objective: To compare a deep learning (DL)-accelerated non-enhanced abbreviated MRI (AMRI DL) protocol with standard AMRI (AMRI STD) of the liver in terms of image quality and malignant focal lesion detection. Materials and Methods: This retrospective study included 155 consecutive patients (110 male; mean age 62.4 ± 11 years) from two sites who underwent standard liver MRI and additional AMRIDL sequences, specifically DL-accelerated single-shot fast-spin echo (SSFSE DL) and DL-accelerated diffusion-weighted imaging (DWIDL). Additional MRI phantom experiments assessed signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), and apparent diffusion coefficient (ADC) values. Three reviewers evaluated AMRIDL and AMRI STD protocols for image quality using a five-point Likert scale and identified malignant hepatic lesions. Image quality scores and per-lesion sensitivities were compared between AMRIDL and AMRI STD using the Wilcoxon signed-rank test and logistic regression with generalized estimating equations, respectively. Results: Phantom experiments demonstrated comparable SNR and higher CNR for SSFSE DL compared to SSFSE STD, with similar ADC values for DWIDL and DWI STD. Among the 155 patients, 130 (83.9%) had chronic liver disease or a history of intra- or extrahepatic malignancy. Of 104 malignant focal lesions in 64 patients, 58 (55.8%) were hepatocellular carcinomas (HCCs), 38 (36.5%) were metastases, four (3.8%) were cholangiocarcinomas, and four (3.8%) were lymphomas. The pooled per-lesion sensitivity across three readers was 97.6% for AMRIDL, comparable to 97.6% for AMRI STD. Compared with AMRI STD, AMRIDL demonstrated superior image quality regarding structural sharpness, artifacts, and noise (all P < 0.001) and reduced the average scan time by approximately 50% (2 min 29 sec vs. 4 min 11 sec). In patients with chronic liver disease, AMRIDL achieved a 96.6% per-lesion sensitivity for HCC detection, similar to 96.5% for AMRI STD (P > 0.05). Conclusion The AMRIDL protocol offers comparable sensitivity for detecting malignant focal lesions, including HCC while significantly enhancing image quality and reducing scan time by approximately 50% compared to AMRI STD.

Background: Sanger sequencing is a technology used to identify the gene sequence variants causing rare genetic disorders. However, designing and implementing a proficiency scheme for Sanger sequencing-based genetic testing is challenging because many molecular diagnostic laboratories are running sequencing tests for tens to hundreds of target genes. As such, we aimed to design and implement a method-based proficiency testing (PT) method for Sanger sequencing and to assess its feasibility in Korea. Methods: A pathogenic low density lipoprotein receptor (LDLR) variant was chosen as the positive PT material, and material without an LDLR variant was used as the negative PT material. We distributed the two PT materials with primer pair sets to 17 molecular diagnostic laboratories nationwide.We calculated the correct results (%) for variation type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Results: Fourteen laboratories responded to the survey. The results for the two PT materials were 100% correct for all evaluation points including variant type, zygosity, nucleotide change, amino acid change, variant classification, and clinical interpretation. Conclusions This pilot PT survey demonstrates a feasibility of using method-based PT for assessing the Sanger sequencing performance of molecular diagnostic laboratories in Korea.