Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology / 대한생식의학회지

A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

Short-term impact of microimplant-assisted rapid palatal expansion on the nasal soft tissues in adults: A three-dimensional stereophotogrammetry study / 대한치과교정학회지

OBJECTIVE@#The aim of this study was to evaluate changes in the nasal soft tissues, including movements of landmarks, changes in linear distances, and volumetric changes, using three-dimensional (3D) stereophotogrammetry after microimplant-assisted rapid palatal expansion (MARPE) in adult patients.@*METHODS@#Facial data were scanned using a white light scanner before and after MARPE in 30 patients. In total, 7 mm of expansion was achieved over a 4-week expansion period. We determined 10 soft tissue landmarks using reverse engineering software and measured 3D vector changes at those points. In addition, we calculated the distances between points to determine changes in the width of the nasal soft tissues. The volumetric change in the nose was also measured.@*RESULTS@#All landmarks except pronasale and subnasale showed statistically significant movement on the x-axis. Pronasale, subnasale, alar right, and alar left showed significant movement on the y-axis, while all landmarks except subnasale showed significant movement on the z-axis. The alar base width, alar width, and alar curvature width increased by 1.214, 0.932, and 0.987 mm, respectively. The average volumetric change was 993.33 mm³, and the amount of increase relative to the average initial volume was 2.96%.@*CONCLUSIONS@#The majority of soft tissue landmarks around the nasal region show significant positional changes after MARPE in adults. The nose tends to widen and move forward and downward. The post-treatment nasal volume may also exhibit a significant increase relative to the initial volume. Clinicians should thoroughly explain the anticipated changes to patients before MARPE initiation.

Validation of SwimCount™, a Novel Home-Based Device That Detects Progressively Motile Spermatozoa: Correlation with World Health Organization 5th Semen Analysis

PURPOSE: We evaluated the usefulness of a home-based device (SwimCount™) compared with World Health Organization (WHO) 5th semen analysis in screening for male fertility in Asian men.MATERIALS AND METHODS: One hundred Asian men who visited CHA Seoul Station Fertility Center for evaluation of fertility were included. Semen samples were analyzed and compared with the SwimCount™ results. An aliquot of 0.5 mL of the semen sample was added to the SwimCount™ and a WHO 5th semen analysis was performed. Results were categorized as low (<5×10⁶/mL), and normal to high (≥5×10⁶/mL) total progressively motile sperm concentration. Receiver operating characteristic curve analysis was performed to evaluate the accuracy of the SwimCount™.RESULTS: The mean total progressively motile sperm concentration was 26.7×10⁶/mL. Semen analysis revealed that 28% of the samples were below the threshold count of 5 million/mL total progressively motile sperm concentration. The mean total progressively motile sperm concentration of the light color SwimCount™ result group determined by semen analysis was 7.5×10⁶/mL, and the mean total progressively motile sperm concentration of the moderate to dark color SwimCount™ result group was 34.2×10⁶/mL. An area under the receiver operating characteristic curve of 0.85 (95% confidence interval, 0.77–0.94; p<0.001) was obtained when the SwimCount™ was compared with semen analysis. The sensitivity and specificity were obtained at a cut off value of 5.0×10⁶/mL total progressively motile sperm concentration, giving a sensitivity and specificity of 87.5% and 73.4%.CONCLUSIONS: We confirmed the reliability of the SwimCount™ as a home-based device for male fertility by evaluating the total progressively motile sperm concentration.

Intermittent, low-dose, antiandrogen monotherapy as an alternative therapeutic option for patients with positive surgical margins after radical prostatectomy / 亚洲男科学杂志(英文版)

The aim of the present study was to determine whether oncologic outcomes and adverse events associated with active on/off intermittent antiandrogen monotherapy (daily bicalutamide, 50 mg per day) are comparable with those of standard external beam radiation therapy (EBRT) or combined androgen blockade (CAB) therapy in prostate cancers with positive surgical margins after radical prostatectomy. Two hundred twenty-three patients with positive surgical margins post-radical prostatectomy who underwent active surveillance (AS, n = 32), EBRT without hormone therapy (n = 55), intermittent antiandrogen monotherapy without EBRT (IAAM, n = 50), or CAB without EBRT (n = 86), between 2007 and 2014, were reviewed retrospectively. Pathologic outcomes, biochemical recurrence rates, radiological disease progression, and adverse events were collected from medical records. Biochemical recurrence rates, biochemical recurrence-free survival rates, and radiological recurrence were not different between the groups (P = 0.225, 0.896, and 0.284, respectively). Adverse event rates and severities were lower for IAAM compared with EBRT or CAB (both P < 0.05), but were comparable to those for AS (P = 0.591 and 0.990, respectively). Grade ≥3 adverse events were not reported in the IAAM or AS groups. Erectile dysfunction and loss of libido rates were lower in the IAAM group compared with the EBRT and CAB groups (P = 0.032). Gastrointestinal complications were more frequently reported in the EBRT group (P = 0.008). Active on/off IAAM treatment might be an appropriate treatment option for patients with positive surgical margins after radical prostatectomy. Furthermore, regarding oncologic outcomes, IAAM was comparable to standard EBRT but had a milder adverse event profile.

Clinical Factors That Predict Successful Posterior Urethral Anastomosis With a Gracilis Muscle Flap

PURPOSE: We evaluated the preoperative clinical factors that affect the surgical outcome of posterior urethral anastomosis (PUA) with a gracilis muscle flap (GMF) to determine which factors predict benefit from the use of the GMF. MATERIALS AND METHODS: This was a retrospective analysis of 49 patients who underwent a delayed PUA with a GMF. A successful clinical outcome was defined as achieving a peak urinary flow rate greater than 15 mL/s at 3 and 12 months postoperatively without evidence of stricture recurrence on a retrograde urethrogram or cystourethroscopy at 3 months postoperatively. Multiple clinical factors were evaluated by use of univariate and multivariate analyses. RESULTS: The outcome of 21 of 49 patients (42.9%) was deemed successful. The mean age of the 49 patients was 37.2+/-13.5 years and the mean follow-up duration was 43.4+/-28.0 months. The length of the urethral defect was significantly shorter in patients with a successful outcome than in patients with an unsuccessful outcome (p=0.010). The outcome differed significantly depending on whether the patients had a previously successful urethroplasty (p=0.036) or whether they had suffered a pelvic bone injury (p=0.012). Multivariate logistic regression analyses revealed that a previous urethroplasty was the only preoperative clinical factor that significantly affected the surgical outcome in PUA with a GMF (odds ratio, 0.218; 95% confidence interval, 0.050 to 0.947; p=0.042). CONCLUSIONS: A history of previous urethroplasty is a preoperative clinical factor that significantly affects the surgical outcome in PUA with a GMF; the procedure is more likely to be successful in patients who have not previously undergone urethroplasty.

Discrepancies in Perception of Urinary Incontinence between Patient and Physician after Robotic Radical Prostatectomy

PURPOSE: Reported incidence of urinary incontinence after a radical prostatectomy (RP) varies between studies. This may be due not only to the definition of incontinence applied, but also how the information is acquired. We investigated the differences in perception of post robot-assisted laparoscopic RP (RALP) urinary incontinence acquired through doctor interviews and patient-reported questionnaires. MATERIALS AND METHODS: Of 238 consecutive men who underwent RALP by a single surgeon between July 2005 and February 2008, we evaluated 66 men using the International Consultation on Incontinence Questionnaire (ICIQ) at various time points after surgery. Each patient's ICIQ results were considered to be the patient's perceptions of urinary incontinence. The physician at the same time directly interviewed the patients about the number of pads used and considered complete continence to be equivalent to the use of no pads or safety liners. RESULTS: Of the 66 patients, the physician reported that 34 (51.5%) had obtained complete continence. However, analysis of the questionnaires of these 34 patients revealed that only 5 (14.7%) patients reported that they never leaked during the past 4 weeks. Most patients (11 patients, 32.4%) who did not use any pad did in fact reported leakage of a small or moderate amount of urine about once a day. CONCLUSION: Our results indicate that there are discrepancies in the perception of urinary incontinence between doctor and patient after RALP. Non-use of pads is not equivalent to obtaining complete urinary continence. Therefore, the number of pads used is not a good measure to determine the status of complete urinary continence.

Pathologic Characteristics and Prognosis of Pathologic T0 Prostate Cancer

PURPOSE: We evaluated the pathologic characteristics and prognosis of pathologic T0 (pT0) prostate cancer (PC). MATERIALS AND METHODS: Of 1,196 consecutive men who underwent radical prostatectomy (RP) between January 1992 and November 2008, 34 patients (mean age, 68.8+/-7.9 years; range, 48-85) had pT0 PC. They were categorized into 4 groups according to neoadjuvant hormone therapy (NHT) and diagnostic methods. The initial PSA, 5 alpha-reductase inhibitor (5alphaRI), Gleason score of prostatic needle biopsy (PNB) or transurethral resection of the prostate (TURP), clinical stage, and presence of high-grade prostatic intraepithelial neoplasia were evaluated. Clinical and biochemical progression were also evaluated. RESULTS: 34 patients were categorized into 4 groups (Group I: 9 without NHT, diagnosed by PNB [1.1%]; Group II: 8 without NHT, diagnosed by TURP [11.3%]; Group III: 16 with NHT, diagnosed by PNB [5.5%]; Group IV: 1 with NHT, diagnosed by TURP [3.8%]). Group I had serum prostate-specific antigen (PSA)<15.0 ng/ml, one positive biopsy core, and a Gleason score< or =7. Group II had serum PSA<10.1 ng/ml, chips involved with cancer<10.0%, and a Gleason score< or =6. There were more patients taking 5alphaRI and high-grade PIN among patients without NHT. None of patients with pathologic pT0 PC had clinical or biochemical progression during follow-up, except 3 patients with NHT (mean, 22 months; range, 2-105 months). CONCLUSIONS: Patients without NHT had more favorable clinical and pathologic results. In our study, except for 3 patients with NHT, all patients had undetectable PSA levels after RP. We need more time for follow-up to conclude whether the prognosis of pT0 PC is favorable.

Obliteration of the Temporal Dorsal Bullae of Guinea Pigs Using Hydroxyapatite Granules (Bongros(R)): A Radiological and Histological Study / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: The present study reports radiological and histological observations of temporal dorsal bullae obliterated by implantation of hydroxyapatite granules (Bongros(R)). MATERIALS AND METHOD: The guinea pigs underwent obliteration of the left dorsal temporal bullae with hydroxyapatite granules (Bongros(R)). MicroCT images were obtained preoperatively and postoperatively. All animals were killed 3 months later. In 8 animals, light microscopic examination of bullae were conducted, and in 4 animals, morphological changes in the cochlear hair cells were examined by scanning electron microscopy (SEM). RESULTS: The microCT images obtained at 3 months after operation demonstrated high signal intensity areas suggesting new bone formations at implanted sites. Light microscopic examinations showed new bone ingrowth and good osteointegration, but no inflammatory response or foreign-body reaction. SEM showed normal-looking hair cells on all examined animals' specimen. CONCLUSION: Our results suggest that Bongros(R) may be safe and reliable alloplastic materials for mastoid obliteration. (Korean

A Case of Concurrent Osteoma and Lobular Capillary Hemangioma of the Middle Turbinate / 대한이비인후과학회지

Osteoma is a slowly growing benign tumor composed of compact or cancellous bone and usually found in paranasal sinuses. Lobular capillary hemangioma is a rapidly growing lesion usually affecting skin and oral mucosa. Both lesions may occur at any age group but most frequently in the third decade. The authors experienced a case of concurrent osteoma and lobular capillary hemangioma in the middle turbinate, which were removed via endonasal endoscopic approach. Concerning our case, we speculate that the slow growth of the osteoma may have caused inflammatory change on nasal mucosa, resulting in lobular capillary hemangioma. We report a case with a review of literatures.

A Case of Mucous Membrane Plasmacytosis Arising from Oropharynx / 대한이비인후과학회지

Mucous membrane plasmacytosis is a rare benign condition characterized by plasma cell infiltration of the mucosa of upper aerodigestive tract. The lesions typically produce a cobblestone or warty appearance of the larynx, pharynx, palate, lips, mouth, tongue and trachea. Histologically, the lesions are characterized by a diffuse expanse of inflammatory cells situated in submucosal tissues, composed mainly of mature plasma cells with scattered polymorphonuclear cells and lymphocytes. Immunohistochemistry for kappa, lambda light chain showed polyclonal immunoglobulin content in all cases examined. A variety of medical and surgical treatments have been tried but none has led to improvement in the condition. In this study, we report, with a review of literature, a mucous membrane plasmacytosis arising from oropharynx in a 30 year-old female patient.

Clinical studies on acute drug intoxication

No abstract available.