Vasomotor Symptoms: More Than Temporary Menopausal Symptoms

Vasomotor symptoms (VMS), such as hot flashes and night sweating, are classic menopausal symptoms experienced by a majority of perimenopausal and postmenopausal women. VMS have received a great deal of attention due to their relationship with cardiometabolic risk. Further, accumulating evidence indicates that VMS are associated with an increased risk of several chronic diseases, including metabolic syndrome, type 2 diabetes mellitus, nonalcoholic fatty liver diseases, and osteoporosis in perimenopausal and postmenopausal women. These findings suggest VMS as biomarkers of impaired cardiometabolic conditions rather than just temporary symptoms in menopausal women, warranting further studies to confirm the casual relationship of VMS with these diseases and the exact underlying mechanism in this context.

Vasomotor Symptoms: More Than Temporary Menopausal Symptoms

Vasomotor symptoms (VMS), such as hot flashes and night sweating, are classic menopausal symptoms experienced by a majority of perimenopausal and postmenopausal women. VMS have received a great deal of attention due to their relationship with cardiometabolic risk. Further, accumulating evidence indicates that VMS are associated with an increased risk of several chronic diseases, including metabolic syndrome, type 2 diabetes mellitus, nonalcoholic fatty liver diseases, and osteoporosis in perimenopausal and postmenopausal women. These findings suggest VMS as biomarkers of impaired cardiometabolic conditions rather than just temporary symptoms in menopausal women, warranting further studies to confirm the casual relationship of VMS with these diseases and the exact underlying mechanism in this context.

Effects of Injection Laryngoplasty with Hyaluronic Acid in Patients with Vocal Fold Paralysis

OBJECTIVES: The purpose of this study was to explore the effects of injection laryngoplasty (IL) with hyaluronic acid in patients with vocal fold paralysis (VFP). METHODS: A total of 50 patients with VFP participated in this study. Pre- and post-IL assessments were performed, which included analyzing the sustained vowel /a/ phonation, and the patient reading 1 Korean sentence from the “Walk” passage that comprised 25 syllables in 10 words. To investigate the effect of IL on vocal fold function, acoustic analysis (acoustic voice quality index, cepstral peak prominence, maximum phonation time, speaking fundamental frequency) was conducted and auditory-perceptual (grade and overall severity), visual judgment (gap), and self-questionnaire (voice handicap index-10) assessments were performed. RESULTS: The patients with VFP showed statistically significant differences between pre-and post-IL assessments for acoustic and auditory-perception, visual judgment, and self-questionnaire assessments. CONCLUSION: The patients with VFP showed positive change in vocal fold function between pre- and post-IL measurements. The findings showed that IL with hyaluronic acid is an effective method to improve vocal fold function in patients with VFP.

Effect of School-Based Social Skills Training Program on Peer Relationships: Preliminary Study

OBJECTIVES: The aim of this study was to evaluate the effect of a school-based social skills training program on peer relationships in children and adolescents and to assess the plan for effective school-based mental health services. METHODS: The Child and Adolescent Mental Health Promotion Team of Bugok National Hospital conducted 7-sessioned school-based social skills training for elementary and middle school students (n=90). Changes in peer relationships were evaluated before and after application of the program using a name generator question. RESULTS: The social skills training program increased peer relations, indicating significant changes in social network indices. CONCLUSION: The social skills training program positively influenced peer relationships. The school-based social skills training program can be expected to have positive effects on school-based mental health services. Future investigation is needed to validate the long term effects of this program.

Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.

Post-Processing of High-Speed Video-Laryngoscopic Images to Two-Dimensional Scanning Digital Kymographic Images

BACKGROUND AND OBJECTIVES: High-speed videolaryngoscopy (HSV) is the only technique that captures the true intra-cycle vibratory behavior of the vocal folds by capturing full images of the vocal folds. However, it has problems of no immediate feedback during examination, considerable waiting time for digital kymography (DKG), recording duration limited to a few seconds, and extreme demands for storage space. Herein, we demonstrate a new post-processing method that converts HSV images to two-dimensional digital kymography (2D-DKG) images, which adopts the algorithm of 2D videokymography (2D VKG). MATERIALS AND METHODS: HSV system was used to capture images of vocal folds. HSV images were post-processed in Kay image-process software (KIPS), and conventional DKG images were retrieved. Custom-made post-processing system was used to convert HSV images to 2D-DKG images. The quantitative parameters of the post-processed 2D-DKG images was validated by comparing these parameters with those of the DKG images. RESULTS: Serial HSV images for all phases of vocal fold vibratory movement are included. The images were converted by the scanning method using U-medical image-process software. Similar to conventional DKG, post-processed 2D DKG image from the HSV image can provide quantitative information on vocal fold mucosa vibration, including the various vibratory phases. Differences in amplitude symmetry index, phase symmetry index, open quotient, and close quotient between 2D-DKG and DKG were analyzed. There were no statistical differences between the quantitative parameters of vocal fold vibratory movement in 2D-DKG and DKG. CONCLUSION: The post-processing method of converting HSV images to 2D DKG images could provide clinical information and storage economy.

Auditory-Perceptual and Acoustic Evaluation in Measuring Dysphonia Severity of Vocal Cord Paralysis

BACKGROUND AND OBJECTIVES: The purpose of this study was to investigate the criterion-related concurrent validity of two standardized auditory-perceptual assessments and the Acoustic Voice Quality Index (AVQI) for measuring dysphonia severity in patients with vocal cord paralysis (VCP). MATERIALS AND METHODS: Total 210 patients with VCP and 236 normal voice subjects were asked to sustain the vowel [a:] and to read aloud the Korean text “Walk”. A 2 second mid-vowel portion of the sustained vowel and two sentences (with 26 syllables) were recorded. And then voice samples were edited, concatenated, and analyzed according to Praat script. Two standardized auditory-perceptual assessment (GRBAS and CAPE-V) were performed by three raters. RESULTS: The VCP group showed higher AVQI, Grade (G) and Overall Severity (OS) values than normal voice group. And the correlation among AVQI, G, and OS ranged from 0.904 to 0.926. In ROC curve analysis, cutoff values of AVQI, G, and OS were < 3.79, < 0.00, and < 30.00, respectively, and the AUC of each analysis was over .89. CONCLUSION: AVQI and auditory evaluation can improve the early screening ability of VCP voice and help to establish effective diagnosis and treatment plan for VCP-related dysphonia.

Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

PURPOSE: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. MATERIALS AND METHODS: SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. RESULTS: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). CONCLUSION: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.

Effects of School-Based Social Skills Training Program on Alexithymic Tendency: Preliminary Study

OBJECTIVES: The purposes of this study are to evaluate the effect of a school-based social skills training program on the emotional regulation of children and adolescents and to assess the plan for effective school-based mental health services. METHODS: The Child and Adolescent Mental health promotion team of Bugok National Hospital conducted school-based social skills training (N=90, 7 sessions) for elementary and middle school students. Evaluations were conducted before and after the application of the program using a prosocial behavior questionnaire, a cohesiveness questionnaire, the Korean version of the 20-item Toronto Alexithymia Scale, a self-esteem scale, and the Novaco anger scale, in order to identify any changes. RESULTS: The social skills training program increased the prosocial behavior and cohesiveness of the children and adolescents and decreased their alexithymic tendency and degree of anger, but did not significantly change their self-esteem. CONCLUSION: The social skills training program positively influences the emotional and behavioral levels of children and adolescents. The emotional regulation program based on a social skills training program is expected to have positive results in school-based mental health services. Future investigations are needed to validate the long term effects of this program.

An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)(pter-->q26.3::p11.2-->pter) by cytogenetic and molecular cytogenetic analyses including high resolution GTG- and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

Prenatal Diagnosis of Chromosome 22q11.2 Deletions: Experiences in a Single Institution

PURPOSE: This study was designed to determine the frequency and echocardiographic findings of 22q11.2 deletions in fetuses with cardiac defects on fetal ultrasound or familial backgrounds of 22q11.2 deletions. MATERIALS AND METHODS: We retrospectively reviewed the medical and ultrasonographic records of 170 fetuses that underwent fluorescence in situ hybridization (FISH) analysis for chromosome 22q11.2 deletions between February 2001 and April 2013. RESULTS: Among 145 fetuses with cardiac defects, six (4.1%) had 22q11.2 deletions. Deletions of 22q11.2 were detected in 6 (5%) of the 120 fetuses with conotruncal defects: 5 (8.9%) of 56 with tetralogy of Fallot (TOF) and 1 (5.9%) of 17 with double outlet right ventricle (DORV). No deletions were found in cases of pulmonary atresia, truncus arteriosus, right aortic arch, or transposition of the great arteries. No 22q11.2 deletions were found in non-conotruncal cardiac malformations. Among 25 fetuses with familial backgrounds of 22q11.2 deletions, one (4%) had a maternally inherited 22q11.2 deletion with no cardiac findings. CONCLUSION: Knowledge of the frequency and echocardiographic findings of 22q11.2 deletions might be helpful for prenatal genetic counseling. It is advisable to perform FISH analysis for 22q11.2 deletions in pregnancies exhibiting conotruncal cardiac defects such as TOF or DORV.

Paracentric Inversions Found in Prenatal Diagnosis

PURPOSE: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless. MATERIALS AND METHODS: We report 10 cases (0.14%) with paracentric inversions among 7,181 prenatal cases observed during prenatal diagnosis performed at Cheil General Hospital between January 2009 and June 2013. We used cytogenetic GTL- and RBG-banding techniques. RESULTS: Of the 10 cases, nine cases were transmitted from each of the parents, and one case was de novo. Nine cases were phenotypically normal up to one month of age after birth. One case was lost to follow-up. We present prenatal diagnosis and follow-up examination of the fetuses with paracentric inversion. CONCLUSION: Based on our cases, most paracentric inversions are considered to be harmless. The precise identification of paracentric inversions might be clinically important and helpful for genetic counseling.

Rarely Observed Jumping Translocation in Spontaneous Abortion

Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only rarely reported. We report two cases of constitutional JT in chorionic villi derived from the products of conception. The karyotype of the first case was 46,XY,add(18)(p11.1)[61]/45,XY,der(18;21)(q10;q10)[32]/46,XY,-18,+mar[16]/46,XY,i(18)(q10)[9]/45,XY,der(15;18)(q10;q10)[6]/46,XY,+1,dic(1;18)(p22;p11.1)[2]/45,XY,der(13;18)(q10;q10)[1]/46,XY[32]. The donor was a chromosome 18. The recipient chromosomes were chromosomes 1, 13, 15, 18 and 21. In the second case, the karyotype was 46,XY,der(22)t(9;22)(q12;q13)[22]/46,XY,der(22)t(1;22)(q21;q13) [13]/46,XY,add(22)(q13)[5]/46,XY[23]. The donor was a chromosome 22 and recipients were chromosomes 1 and 9. Both cases were de novo. The breakpoints of chromosomes were mostly in centromeric regions, pericentromeric regions, or telomeric regions. Normal cell lines were observed in both cases. This report supports the prior findings that the unstable nature of JT, resulting in chromosomal imbalance, most likely contributed to these early miscarriages.

Monocentric Derivative Y Chromosome with Duplication of the SRY Gene in an Azoospermic Male

Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis. The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY gene and deletion of Yq12 heterochromatin. The karyotype was 46,X,der(Y) (pter-->q11.23::p11.2-->pter).ish der(Y)(DYZ3+,DYZ1-,SRY++), confirmed through a FISH study. Even though the patient possessed an abnormal Y chromosome, testicular biopsy showed normal testicular volumes in the proband, with gonadal hormonal levels in the normal range but bilateral varicocele and hypospermatogenesis. We speculate that the abnormal Y chromosome arose from sister chromatids during Y chromosome recombination or intra chromosomal NAHR (non-allelic homologous recombination) during meiosis in the patient's father or in the very early stages of embryogenesis. The derivative Y chromosome might interfere in the meiotic stage of spermatogenesis, leading to the developmental arrest of germ cells. The present case illustrates that the infertility phenotype can have various causes. Also, it emphasizes the importance of accurate and various genetic analyses and could aid in male infertility treatment.

Prenatally Diagnosed Uncommon Mosaic Autosomal Trisomy

Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level III uncommon mosaicism of trisomy 5, 16 and 20,diagnosed prenatally. In case 1 with mosaic trisomy 20, there was a higher mosaic ratio of trisomy 20 in the repeat amniocentesis (62.1%) than in the first (36.6%) with normal fetal ultrasound finding except for a relatively small aorta on a 3-vessel view of the fetal heart. Case 2 showed a low rate of mosaic trisomy 20 (5.25%) in cultured amniocytes but normal karyotype in the repeat amniocentesis, who delivered a normal healthy baby. Case 3 showed a 13.6% of trisomy 16 mosaicism in the 30 cells of cultured amniocytes. Sixty cells from a fetal blood sample at termination showed non-mosaic 46,XX normal karyotype, while skin fibroblasts had 22.5% trisomy 16 in 40 metaphases. The autopsy showed ventricular septal defect (VSD). Case 4 with low grade mosaicism (10.5%) of trisomy 5 resulted in elective termination, though the ultrasoumd showed growsly normal fetus. Although level III mosaicism is regarded as true mosaicism, it is difficult to predict the outcome of the fetus with rare mosaic autosome trisomy. Therefore mosaic autosome trisomy of fetus should be carefully interpreted with more various approaches including repeat sampling and targeted fetal ultrasound.

Prenatal Diagnosis of the 22q11.2 Duplication Syndrome

The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.

Prenatal diagnosis of a de novo ring chromosome 11

A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/45,XX,-11[16]/46,XX[34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine growth restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring were detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.