PPP2R1A-Related Neurodevelopmental Disorder: The First Korean Case with a Novel Variant of PPP2R1A and Literature Review.

In 2015, germline mutations in PPP2R1A were found to cause neurodevelopmental disorders (NDDs). To date, fewer than 50 cases of PPP2R1A-related NDDs have been reported. Here, we report the first Korean case of PPP2R1A-related NDD harboring a novel de novo missense PPP2R1A variant with previously unreported clinical features. The proband, a 12-month-old female, presented with developmental delay, intractable epilepsy, microcephaly, and feeding difficulties. Brain magnetic resonance imaging showed a Dandy-Walker continuum with corpus callosum hypoplasia, periventricular leukomalacia, and brainstem and diffuse cerebral atrophy. Next-generation sequencing-based targeted gene panel testing for NDDs revealed a novel heterozygous missense variant of PPP2R1A:c.650A>G, p.(Gln217Arg). Sanger sequencing confirmed it as de novo, as neither parent carried this variant. These findings expand the phenotypic and genotypic spectra of PPP2R1A variants.

Computer-Aided Diagnosis Parameters of Invasive Carcinoma of No Special Type on 3T MRI: Correlation with Pathologic Immunohistochemical Markers.

Purpose: To investigate the correlation between computer-aided diagnosis (CAD) parameters in 3-tesla (T) MRI and pathologic immunohistochemical (IHC) markers in invasive carcinoma of no special type (NST). Materials and Methods: A total of 94 female who were diagnosed with NST carcinoma and underwent 3T MRI using CAD, from January 2018 to April 2019, were included. The relationship between angiovolume, curve peak, and early and late profiles of dynamic enhancement from CAD with pathologic IHC markers and molecular subtypes were retrospectively investigated using Dwass, Steel, Critchlow-Fligner multiple comparison analysis, and univariate binary logistic regression analysis. Results: In NST carcinoma, a higher angiovolume was observed in tumors of higher nuclear and histologic grades and in lymph node (LN) (+), estrogen receptor (ER) (-), progesterone receptor (PR) (-), human epidermal growth factor 2 (HER2) (+), and Ki-67 (+) tumors. A high rate of delayed washout and a low rate of delayed persistence were observed in Ki-67 (+) tumors. In the binary logistic regression analysis of NST carcinoma, a high angiovolume was significantly associated with a high nuclear and histologic grade, LN (+), ER (-), PR (-), HER2 (+) status, and non-luminal subtypes. A high rate of washout and a low rate of persistence were also significantly correlated with the Ki-67 (+) status. Conclusion: Angiovolume and delayed washout/persistent rate from CAD parameters in contrast enhanced breast MRI correlated with predictive IHC markers. These results suggest that CAD parameters could be used as clinical prognostic, predictive factors.

Prostatic Artery Embolization for Lower Urinary Tract Symptoms via Transradial Versus Transfemoral Artery Access: Single-Center Technical Outcomes.

OBJECTIVE: To evaluate the safety and feasibility of prostatic artery embolization (PAE) via transradial access (TRA) compared with transfemoral access (TFA). MATERIALS AND METHODS: This retrospective study included 53 consecutive men with lower urinary tract symptoms (LUTS) who underwent PAE between September 2018 and September 2021. Thirty-one patients (mean age ± standard deviation: 70.6 ± 8.4 years) were treated with TFA, including 14 patients treated before adopting TRA. Since December 2019, TRA has also been attempted with the procedure's selection criteria of patent carpal circulation and a height ≤ 172 cm, with 22 patients treated via TRA (69.1 ± 9.6 years). Parameters of technical success (defined as successful bilateral embolization), clinical success (defined as LUTS improvement), procedural time, radiation dose, and adverse events were compared between the two groups using the Fisher's exact test, independent sample t test, Wilcoxon signed-rank test, or Mann-Whitney test. RESULTS: All patients received at least one-side PAE. Technical success of PAE was achieved in most patients (TRA, 21/22; TFA, 30/31; p > 0.999). No technical problem-related conversion from TRA to TFA occurred. The clinical success rate was 85% (11/13) in patients with TRA, and 89% (16/18) in patients with TFA for follow-up > 2 weeks post-PAE (median, 3 months) (p > 0.999). The median procedure time was similar in both groups (TRA, 81 minutes vs. TFA, 94 minutes; p = 0.570). No significant dose differences were found between the TRA and TFA groups in the dose-area product (median Gycm², 95 [range, 44-255] for TRA and 84 [34-255] for TFA; p = 0.678) or cumulative air kerma (median mGy, 609 [236-1584] for TRA and 634 [217-1594] for TFA; p = 0.551). No major adverse events occurred in either of the groups. CONCLUSION: PAE via TRA is a safe and feasible method comparable to conventional TFA. It can be safely implemented by selecting patients with patent carpal circulation and adequate height.

Endovascular Treatment of a Systemic-to-Pulmonary Artery Fistula: A Case Report.

Systemic-to-pulmonary artery fistulas are rare. This condition may be congenital, post-traumatic, or post-inflammatory and can cause infection, hemorrhage, or pulmonary hypertension. Here, we report a case of an intercostal-to-pulmonary artery fistula, incidentally detected during the evaluation of dyspnea in a 67-year-old female. Retrograde transcatheter coil embolization in a dilated draining pulmonary artery was initially attempted. However, another draining pulmonary artery developed after 5 months. The intercostal arteries or systemic feeders were successfully embolized through a transarterial access. At the 10-month follow-up, the abnormally dilated vessels had regressed, and dyspnea had improved. Sequential or simultaneous retro- and antegrade transcatheter embolization may successfully treat pleural arterio-arterial fistulas.

Targeted Genomic Sequencing Reveals Different Evolutionary Patterns Between Locally and Distally Recurrent Glioblastomas.

BACKGROUND/AIM: Glioblastoma is the most malignant form of astrocytoma. The purpose of this study was to analyze the genetic characteristics of primary and recurrent glioblastomas using targeted sequencing and investigate the differences in mutational profiles between the locations of tumor recurrence. MATERIALS AND METHODS: Fourteen glioblastoma patients who developed local (n=10) or distal (n=4) recurrence were included in the study. Targeted sequencing analysis was performed using the primary (n=14) and corresponding recurrent (n=14) tumor tissue samples. RESULTS: The local and distal recurrence groups showed different genetic evolutionary patterns. Most of the locally recurrent glioblastomas demonstrated concordant mutational profiles between the primary and recurrent tumors, suggesting a linear evolution. In contrast, all cases of distally recurrent glioblastomas showed changes in mutational profiles with newly acquired mutations when compared to the corresponding primary tumors, suggesting a branching evolution. CONCLUSION: Locally and distally recurrent glioblastomas exhibit different evolutionary patterns.

Sonoelastographic strain ratio: how does the position of reference fat influence it?

PURPOSE: The purpose of this study was to evaluate how the reference fat position influenced the calculation of the sonoelastographic strain ratio. METHODS: Three hundred fifty-eight breast masses (256 benign lesions and 102 malignant lesions) in 300 women (mean age 47.4 years; age range 17-82 years) who had been scheduled for a percutaneous needle biopsy or surgical excision were examined using B-mode ultrasonography and elastography. The sonoelastographic strain ratio was calculated twice per lesion; once by dividing the strain value of the fat near the mass by that of the mass (FLR 1) and once by dividing the strain value of the subcutaneous fat by that of the mass (FLR 2). RESULTS: Most (91.9 %) showed a difference of less than 0.5 between FLR 1 and FLR 2 values. Regardless of the position of reference fat, there was no statistically significant difference between the FLR 1 and FLR 2 values (p value = 0.077 and 0.0825, respectively). According to the pathology of the lesion, a difference between FLR 1 and FLR 2 less than 0.5 occurred in 95.3 % of the benign lesions and 84 % of the malignant lesions (p < 0.001). CONCLUSIONS: The sonoelastographic strain ratio was not significantly affected by the position of reference fat.

Brain metastasis from uterine cervical cancer.

Uterine cervical cancer usually spreads by local extension and through the rich lymphatic network to the retroperitoneal lymph nodes. However, brain metastasis from primary cervical cancer is extremely rare. They are usually seen late in the clinical course and have poor prognosis. We present a 48-year-old woman with squamous cell carcinoma of the cervix who developed multiple brain metastases after 30-month treatment of the primary disease. The patient received whole brain radiation therapy and steroids, and she is alive without any neurologic symptoms and signs at the 6-month follow-up after treatment of the recurrence.

Ultrasonographic findings of medullary thyroid carcinoma: a comparison with papillary thyroid carcinoma.

OBJECTIVE: This study was designed to evaluate the ultrasonographic (US) findings of medullary thyroid carcinoma (MTC) as compared to findings for papillary thyroid carcinoma (PTC). MATERIALS AND METHODS: The study included 21 cases of MTC that were surgically diagnosed between 2002 and 2007 and 114 cases of PTC that were diagnosed in 2007. Two radiologists reached a consensus in the evaluation of the US findings. The US findings were classified as recommended by the Thyroid Study Group of the Korean Society of Neuroradiology and Head and Neck Radiology (KSNHNR) and each nodule was identified as suspicious malignant, indeterminate or probably benign. The findings of medullary and papillary carcinomas were compared with use of the chi-squared test. RESULTS: The common US findings for MTCs were solid internal content (91%), an ovoid to round shape (57%), marked hypoechogenicity (52%) and calcifications (52%). Among the 21 cases of MTC nodules, 17 (81%) were classified as suspicious malignant nodules. The mean size (longest diameter) of MTC nodules was 19 +/- 13.9 mm and the mean size (longest diameter) of PTC nodules was 11 +/- 7.4 mm; this difference was statistically significant (p < 0.05). An ovoid to round shape was more prevalent for MTC lesions than for PTC lesions (p < 0.05). CONCLUSION: The US criteria for suspicious malignant nodules as recommended by the Thyroid Study Group of the KSNHNR correspond to most MTC cases. The US findings for MTC are not greatly different from PTC except for the prevalence of an ovoid to round shape.

Sonographic findings of prenatal torsion of ovarian lymphangioma.

Ovarian cysts are primarily of follicular origin, and ovarian lymphangioma is an extremely rare lesion. Most ovarian cysts demonstrated on prenatal sonograms are asymptomatic and resolve antenatally. We report a case of ovarian torsion in utero secondary to an ovarian lymphangioma in which sonographic examination revealed a changing pattern of the cystic ovarian mass from an anechoic to echogenic appearance.