Comparison of Urinary Red Blood Cell Distribution (URD) and Dysmorphic Red Blood Cells for Detecting Glomerular Hematuria: A Multicenter Study.

Background: The clinical utility of urinary red blood cell (RBC) distribution (URD) remains limited. This study aimed to compare the diagnostic performance of URD and dysmorphic RBC (dRBC) in a multicenter study.

Methods: This study enrolled 703 patients who visited four tertiary medical centers in Korea.

Compound Heterozygous Mutations of in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.

Mutations in the gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie-Tooth disease (CMT). This study aimed to identify mutations in a Korean CMT cohort with cerebellar ataxia and spasticity by whole exome sequencing (WES). As a result, eight pathogenic mutations in four families were identified as the underlying causes of these complex phenotypes.

Recessive Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.

Autosomal recessive Nonaka distal myopathy is a rare autosomal recessive genetic disease characterized by progressive degeneration of the distal muscles, causing muscle weakness and decreased grip strength. It is primarily associated with mutations in the gene, which encodes a key enzyme of sialic acid biosynthesis (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase). This study was performed to find mutations in six independent distal myopathy patients with or without peripheral neuropathy using whole-exome sequencing (WES).

The Expression and Amplification of HER2 Has a Significant Impact on the Prognosis of Endometrial Carcinoma in Korean Patients.

: The purpose of this study was to analyze the protein overexpression and gene amplification of HER2 in endometrial carcinoma (EC) and to evaluate its role as a prognostic factor in Korean women. : A tissue microarray (TMA) was constructed from samples from 191 patients with diverse histologic types of EC. HER2 protein expression and gene amplification status were analyzed using immunohistochemistry (IHC) and silver in situ hybridization (SISH), respectively.

Peripheral Neuropathy and Decreased Locomotion of a Mutation in Human and Model Animals.

Rab40 proteins are an atypical subgroup of Rab GTPases containing a unique suppressor of the cytokine signaling (SOCS) domain that is recruited to assemble the CRL5 E3 ligase complex for proteolytic regulation in various biological processes. A nonsense mutation deleting the C-terminal SOCS box in the gene was identified in a family with axonal peripheral neuropathy (Charcot-Marie-Tooth disease type 2), and pathogenicity of the mutation was assessed in model organisms of zebrafish and . Compared to control fish, zebrafish larvae transformed by the human mutant showed a defective swimming pattern of stalling with restricted localization and slower motility.

Risk factors for the failure of first-line PARP inhibitor maintenance therapy in patients with advanced ovarian cancer: Gynecologic Oncology Research Investigators Collaboration Study (GORILLA-3004).

Objective: To identify the risk factors for failure of first-line poly (ADP-ribose) polymerase inhibitor (PARPi) maintenance therapy in patients with advanced ovarian cancer.

Method: Patients with stage III-IV epithelial ovarian cancer who received first-line PARPi maintenance therapy were retrospectively reviewed. Clinicopathologic factors were compared between two groups-recur/progression of disease (PD) and non-recur/PD.

Fertility-sparing hormonal treatment in patients with stage I endometrial cancer of grade 2 without myometrial invasion and grade 1-2 with superficial myometrial invasion: Gynecologic Oncology Research Investigators coLLaborAtion study (GORILLA-2001).

Objectives: To evaluate oncologic and pregnancy outcomes of fertility-sparing treatment (FST) using progestin in patients with stage I grade 2 endometrioid endometrial cancer (EC) without myometrial invasion (MI) or grade 1-2 with superficial MI.

Methods: Multicenter data of patients with stage I grade 2 EC without MI or grade 1-2 EC with superficial MI, who received FST between 2005 and 2021, were analyzed. Cox regression analysis identified independent factors for progressive disease (PD) during the FST.

Laparoscopic radical hysterectomy without uterine manipulator or vaginal tube use.

In the Laparoscopic Approach to Cervical Cancer trial, minimally invasive surgery (MIS) has been associated with significantly lower disease-free survival and overall survival rates. The proposed reasons for the increased recurrence and mortality associated with MIS are uterine manipulation, the effect of insufflation gas (CO), and intracorporeal colpotomy. We applied 2 techniques during surgery to reduce tumor spillage in laparoscopic radical hysterectomy (LRH), which included avoiding using a uterine manipulator and containing the colpotomy using an endoscopic stapler.

Differential identification of urine crystals with morphologic characteristics and solubility test.

Background: Urinary crystals are the most diverse forms of urine sediments. Reference images for typical urinary crystals are common, however, but images for interpreting atypical urinary crystals are very rare. The authors reviewed various forms and solubility tests of urine crystals to interpret atypical crystals found in clinical specimens.

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E (CMT1E) or HNPP. This study was performed to identify PMP22 mutations and to analyze the genotype−phenotype correlation in Korean CMT families. By the application of whole-exome sequencing (WES) and targeted gene panel sequencing (TS), we identified 14 pathogenic or likely pathogenic PMP22 mutations in 21 families out of 850 CMT families who were negative for 17p12 (PMP22) duplication.

Retreatment with progestin for recurrence after complete response with fertility-sparing treatment in patients with endometrial cancer.

Objective: To assess the outcomes of retreatment using progestin for recurrence after a complete response with fertility-sparing treatment in patients with early endometrial cancer.

Methods: We retrospectively reviewed the data of patients with presumed stage IA, grade 1 endometrioid endometrial cancer who developed intra-uterine recurrence after a complete response with fertility-sparing treatment using progestin. Oncological and pregnancy outcomes were analyzed after repeated fertility-sparing treatment.

Minimally invasive surgery versus open surgery in high-risk histologic endometrial cancer patients: A meta-analysis.

Objective: To compare the effects of minimally invasive surgery (MIS) and open surgery (OPS) on the risk of recurrence and mortality in patients with endometrial cancer (EC) of high-risk histology (grade 3 endometrioid adenocarcinoma, papillary serous carcinoma [PS], clear cell carcinoma [CC], and carcinosarcoma) using meta-analysis.

Material And Methods: We systematically reviewed published studies comparing MIS and OPS in EC patients with high-risk histology until January 2022. The endpoints were recurrence and mortality rate.

Clinical Outcomes Associated with Endocervical Glandular Involvement in Patients with Cervical Intraepithelial Neoplasia III.

This study aimed to determine whether endocervical glandular involvement (GI) affects the clinical prognosis of patients with cervical intraepithelial neoplasia (CIN) III who underwent the loop electrosurgical excision procedure (LEEP). This retrospective study included 250 patients who underwent LEEP for the treatment of CIN III between August 2005 and May 2020. The medical records of 234 patients were analyzed; 137 (58.

Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.

Background: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF gene mutations. Until now, only a few studies have reported the clinical features of CMT1C.

Objective: This study was performed to find CMT1C patients with mutation of LITAF in a Korean CMT cohort and to characterize their clinical features.

Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.

Small heat shock proteins (sHSPs) are ATP-independent chaperones that help correct the folding of denatured proteins and protect cells from stress. Mutations in , , and are implicated in inherited peripheral neuropathies (IPNs), such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathies (dHMN). This study, using whole exome sequencing or targeted gene sequencing, identified 9 pathogenic or likely pathogenic variants in these three sHSP genes from 11 Korean IPN families.

Laparotomic radical hysterectomy versus minimally invasive radical hysterectomy using vaginal colpotomy for the management of stage IB1 to IIA2 cervical cancer: Survival outcomes.

This study compared survival outcomes for patients with stage IB1 to IIA2 (International Federation of Gynecology and Obstetrics stage 2009) cervical cancer who underwent open radical hysterectomy (ORH) versus those who underwent minimally invasive radical hysterectomy (MIRH) using vaginal colpotomy (VC).Data for 550 patients who were diagnosed with cervical cancer at our institution during the period August 2005 to September 2018 was retrospectively reviewed. Of these, 116 patients who underwent radical hysterectomy (RH) were selected after applying the exclusion criteria.

Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in the neurofilament light polypeptide (NEFL) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020, 1,143 Korean CMT families underwent gene sequencing, and we investigated the clinical, genetic, and neuroimaging spectra of NEFL-related CMT patients.

Multiple Primary Malignancies in Patients with Gynecologic Cancer.

Objective: To investigate the prevalence and oncologic outcomes of patients with multiple primary malignant tumors (MPMT) with gynecologic cancer.

Methods: This retrospective study included 1929 patients diagnosed with gynecologic cancer at a tertiary medical center between August 2005 and April 2021. The clinical data included cancer location, age at primary malignancy diagnosis, interval between primary and secondary cancer, stage of cancer, family history of cancer, genetic testing, dates of last follow-up, recurrence, and death.