Ectodermal dysplasia tends to fall into two groups, the hidrotic and anhidrotic fo rms. Each type has a seperate geneologic origin and distinct clinical manifestation. The hidrotic form usually results from the action of an autosomal dominant gene, whereas the anhidrotic form appears to be deterrnined by the action of a sex linked recessive gene. In the hidrotic form the main clinical manifestations are dystrophic nails, defects of hair shaft and hyperkeratosis of the palms and soles. Recently one case with dystrophic nails, defects of hair and eyebrow and normaI sweating function without family history has been seen by us.
Ectoderm* ; Ectodermal Dysplasia ; Eyebrows ; Genes, Dominant ; Genes, Recessive ; Hair ; Humans ; Sweat ; Sweating

Objective: We investigated the agreement between anti-Müllerian hormone (AMH) levels measured with revised Gen II (rev-Gen II) and automated AMH (Access) assays and evaluated the reproducibility of each method under various blood/serum storage conditions. Methods: AMH levels in blood samples from 74 volunteers were measured by rev-Gen II and Access assays under various conditions: immediate serum separation and AMH measurement (fresh control); serum stored at –20 °C and AMH measured after 48 hours, 1 week, and 2 years; serum stored at 0 to 4 °C and AMH measured after 48 hours and 1 week; and blood kept at room temperature and delayed serum separation after 48 hours and 1 week, with immediate AMH measurement. Results: In fresh controls, all rev-Gen II-AMH values were higher than comparable Access-AMH values (difference, 8.3% to 19.7%). AMH levels measured with the two methods were strongly correlated for all sample conditions (r=0.977 to 0.995, all p<0.001). For sera stored at –20 °C or 0 to 4 °C for 48 hours, Access-AMH values were comparable to control measurements, but rev-Gen II-AMH values were significantly lower. AMH levels in sera stored at –20 °C or 0 to 4 °C for 1 week were significantly lower than in fresh controls, irrespective of method. Across methods, long-term storage at –20 °C for 2 years yielded AMH measurements significantly higher than control values. When serum separation was delayed, rev-Gen II-AMH values were significantly lower than control measurements, but Access-AMH values varied. Conclusion The rev-Gen II and Access-AMH assays showed varying reproducibility across blood/serum storage conditions, but automated Access yielded superior stability to rev-Gen II.

OBJECTIVE: To identify differences in the expression of the genes for peroxisome proliferator-activated receptor (PPAR)-γ, cyclooxygenase (COX)-2, and the proinflammatory cytokines interleukin (IL)-6 and tumor necrosis factor (TNF)-α in granulosa cells (GCs) from polycystic ovary syndrome (PCOS) patients and controls undergoing controlled ovarian stimulation. METHODS: Nine patients with PCOS and six controls were enrolled in this study. On the day of oocyte retrieval, GCs were collected from pooled follicular fluid. Total mRNA was extracted from GCs. Reverse transcription was performed and gene expression levels were quantified by realtime quantitative polymerase chain reaction. RESULTS: There were no significant differences in age, body mass index, and total gonadotropin dose, except for the ratio of luteinizing hormone to follicle-stimulating hormone between the PCOS and control groups. PPAR-γ and COX-2 mRNA was significantly downregulated in the GCs of PCOS women compared with controls (p=0.034 and p=0.018, respectively), but the expression of IL-6 and TNF-α mRNA did not show significant differences. No significant correlation was detected between the expression of these mRNA sequences and clinical characteristics, including the number of retrieved oocytes, oocyte maturity, cleavage, or the good embryo rate. Positive correlations were found among the PPAR-γ, COX-2, IL-6, and TNF-α mRNA levels. CONCLUSION: Our data may provide novel clues regarding ovarian GC dysfunction in PCOS, and indirectly provide evidence that the effect of PPAR-γ agonists in PCOS might result from alterations in the ovarian follicular environment. Further studies with a larger sample size are required to confirm these proposals.
Body Mass Index ; Cyclooxygenase 2* ; Cytokines* ; Embryonic Structures ; Female ; Follicle Stimulating Hormone ; Follicular Fluid ; Gene Expression ; Gonadotropins ; Granulosa Cells* ; Humans ; Interleukin-6 ; Interleukins ; Luteinizing Hormone ; Oocyte Retrieval ; Oocytes ; Ovulation Induction ; Peroxisomes* ; Polycystic Ovary Syndrome* ; Polymerase Chain Reaction ; PPAR gamma ; Prostaglandin-Endoperoxide Synthases ; Reverse Transcription ; RNA, Messenger ; Sample Size ; Tumor Necrosis Factor-alpha

Anti-Müllerian hormone (AMH) is now accepted as an important clinical marker of ovarian reserve and is increasingly measured as an initial evaluation at infertility clinics. The aim of this study was to establish reference values for the revised second generation (Gen II) assay using population-based data. In this population-based cohort study, AMH data from unselected infertile women aged 25–45 years from June 2013 to June 2014 (n = 15,801) were collected. The AMH values were measured using the revised Gen II assay. We established and validated 5 AMH-age regression models. Based on the optimal AMH-age model, reference values and centile charts were obtained. The quadratic model (log AMH = 0.410 × age − 0.008 × age²− 3.791) was the most appropriate for describing the age-dependent decrease in AMH measured using the revised Gen II assay. This is the largest population-based study to establish age-specific reference values of AMH using the revised Gen II assay. These reference values may provide more specific information regarding the ovarian reserve estimation of infertile women.
Biomarkers ; Cohort Studies ; Female ; Humans ; Infertility ; Ovarian Reserve ; Reference Values*

Adeno-associated virus (AAV) and human papillomavirus (HPV) DNAs were found in abnormal quality semen, early abortus and female genital tissues. It was suggested that they might cause male infertility and miscarriages. This study was performed to determine the detection rate of these viruses in the semen and to assess the relationship between the presence of virus and male factor infertility and recurrent miscarriages. Sixty-three of 99 recruited male were included in this study according to the completeness of follow-up and the sample availability. Fourteen male with normal reproductive capacity were allocated to control group, 15 male with abnormal results in semen analysis were grouped as male factor infertility (MF) group, and 34 male whose spouses have had history of repeated spontaneous abortions were designated as repeated miscarriage (RM) group. AAV and HPV were detected in semen by polymerase chain reaction. The detection rate of AAV in the MF infertility group and RM group was 60.0% and 50.0%, respectively, while 14.3% in the control group (p < 0.05). However, the differences in the detection rate of HPV were not statistically significant among groups. These results suggest that AAV could be related to repeated miscarriages and male infertility.
Abortion, Habitual ; Abortion, Spontaneous ; Dependovirus ; DNA ; Female ; Fertilization ; Follow-Up Studies ; Humans ; Infertility ; Infertility, Male ; Male ; Polymerase Chain Reaction ; Pregnancy ; Semen ; Semen Analysis ; Spouses ; Stress, Psychological ; Viruses

The purpose of this study was to investigate whether sperm selection by hyaluronic acid (HA) binding could improve fertilization rate and embryo quality in intracytoplasmic sperm injection (ICSI) cycles. Two hundred nineteen oocytes obtained from eighteen women were injected with either HA-bound (n = 107) or conventionally selected spermatozoa (n = 112) in a randomized way. All of the participants were infertile couples who had normal sperm parameters but low fertilization rate in previous in vitro fertilization (IVF) cycle (n = 5) or experienced multiple IVF failures (n = 13). Lower fertilization (75.7% vs 83.0%) and cleavage rate on day 2 (72.9% vs 83.0%) was observed in oocytes injected with HA-bound spermatozoa than the conventional group, but the difference was not significant. Significantly lower cleavage rate was observed on day 3 in HA group (56.0% vs 69.6%, P = 0.038). Blastocyst formation rate and the number of transferred embryos were similar in both groups. In multiple IVF failure patients, significantly reduced fertilization rate (71.8% vs 85.3%, P = 0.046) and cleavage rate on day 2 (70.4% vs 85.3%, P = 0.029) and day 3 (53.5% vs 77.3%, P = 0.002) were noticed in HA group. Five women achieved pregnancy continuing more than 12 weeks after transfer (27.8%). Success of ICSI was not related with the number of embryos fertilized by HA-bound spermatozoa. Application of ICSI by sperm selection using HA binding is not helpful in couples with repeated poor fertilization or implantation despite normal sperm parameters.
Adult ; Blastocyst/cytology ; Embryo Transfer ; Female ; *Fertilization in Vitro ; Humans ; Hyaluronic Acid/*pharmacology ; Infertility, Male/therapy ; Male ; Oocytes/cytology/physiology ; Pregnancy ; Pregnancy Rate ; Prospective Studies ; *Sperm Injections, Intracytoplasmic ; Spermatozoa/*drug effects/physiology

OBJECTIVE: To review the outcomes of preimplantation genetic diagnosis (PGD) using zona drilling with acid Tyrode's solution (chemical zona pellucida drilling, chemical ZD) and those of partial zona dissection (PZD). METHODS: Clinical outcomes of seventy-one couples undergoing 85 PGD cycles from January 2005 to December 2010 were included. Blastocyst formation and the hatching rate, clinical pregnancy rate, ongoing pregnancy rate, implantation rate, and fetal gender ratio of the PZD and chemical ZD groups were compared. RESULTS: Application of PZD resulted in a significantly higher rate of clinical pregnancy (40.7% vs. 15.4%, p=0.022), ongoing pregnancy (35.6% vs. 11.5%, p=0.023), and implantation (18.1% vs. 5.7%, p=0.007) compared with chemical ZD. Among non-transferred embryos, the rate of blastocyst formation on day 5 (49.1% vs. 39.5%, p=0.016) and hatching on day 6 (47.2% vs. 26.5%, p<0.001) were also significantly higher in the PZD group. CONCLUSION: The mechanical zona dissection method showed better outcomes than chemical ZD in terms of the blastocyst development and pregnancy rate. In this study, the fact that chemical ZD was conducted in different period from mechanical method should be considered in interpreting the result.
Blastocyst ; Embryonic Structures ; Family Characteristics ; Herpes Zoster ; Isotonic Solutions ; Mandrillus ; Pregnancy ; Pregnancy Rate ; Preimplantation Diagnosis ; Prostaglandins D ; Zona Pellucida

Purpose: Recent advances in the treatment of breast cancer have led to the improvement of breast cancer patient’s survival. With the prolonged survival of these patients, pregnancy became an important issue, especially in young cancer patient aged 35 years or under. Increased hormone levels during pregnancy, however, raise concerns about elevating the risk of cancer recurrence. The aim of this study was to validate the notion of increased risk associated with pregnancy after breast cancer treatment in young patients. Methods: From January 2009 to December 2020, newly diagnosed breast cancer patients 35 years old or under who underwent optimal surgery in Korea University Guro Hospital were enrolled in this study. Patients were categorized into 3 groups: nulliparous, pregnancy prior to treatment of breast cancer, and patients with pregnancy after breast cancer treatment. Their overall survival and disease-free survival were evaluated. Results: A total of 107 patients were enrolled in this study. Thirteen patients (12.1%) conceived and successfully delivered. The mean follow-up period after surgery was 58.9 (± 33.5) months. There was no significant difference in overall survival (P = 0.608) and disease-free survival (P = 0.591) among different groups. Conclusion In young patients, pregnancy after treatment for breast cancer did not affect their overall survival or diseasefree survival as compared to nullipara or previously delivered groups. Therefore, pregnancy counseling should not be prevented in young breast cancer patients 35 years old or under.

Purpose: The incidence of breast cancer in older females is increasing with increased life expectancy. This study analyzed tumor characteristics and oncological outcomes in patients aged ≥ 70 years compared to patients in a younger postmenopausal group, in conjunction with their adherence to treatment guidelines. Methods: Patients aged ≥ 50 years, newly diagnosed with breast cancer, were divided into two age categories: ≥ 70 years and 50–69 years. All patients underwent curative surgery at Korea University Guro Hospital between January 2009 and December 2019. Clinical data on tumor subtype, histopathological grade, and clinical stage, along with treatment details were collected. Disease-free survival, distant recurrence-free survival, and breast cancer-specific survival rates were determined. Results: Of 1,199 patients, 166 (13.8%) were ≥ 70 years at the time of surgery. The diseasefree, distant recurrence-free, and breast cancer-specific survival rates were significantly lower in patients aged ≥ 70 years (p < 0.05). In a subgroup analysis, human epidermal growth factor receptor 2-positive tumors were the only subtype with a statistically significant difference in survival outcomes, and adherence to the guidelines was strongly linked to a better prognosis. Conclusion Patients aged ≥ 70 years had lower disease-free, distant recurrence-free, and breast cancer-specific survival rates compared to younger postmenopausal patients aged 50–69 years. With the continuous increase in life expectancy and advances in healthcare, it is critical to optimize treatment strategies for older patients with breast cancer to improve survival outcomes and enhance their quality of life.

Purpose: The incidence of breast cancer in older females is increasing with increased life expectancy. This study analyzed tumor characteristics and oncological outcomes in patients aged ≥ 70 years compared to patients in a younger postmenopausal group, in conjunction with their adherence to treatment guidelines. Methods: Patients aged ≥ 50 years, newly diagnosed with breast cancer, were divided into two age categories: ≥ 70 years and 50–69 years. All patients underwent curative surgery at Korea University Guro Hospital between January 2009 and December 2019. Clinical data on tumor subtype, histopathological grade, and clinical stage, along with treatment details were collected. Disease-free survival, distant recurrence-free survival, and breast cancer-specific survival rates were determined. Results: Of 1,199 patients, 166 (13.8%) were ≥ 70 years at the time of surgery. The diseasefree, distant recurrence-free, and breast cancer-specific survival rates were significantly lower in patients aged ≥ 70 years (p < 0.05). In a subgroup analysis, human epidermal growth factor receptor 2-positive tumors were the only subtype with a statistically significant difference in survival outcomes, and adherence to the guidelines was strongly linked to a better prognosis. Conclusion Patients aged ≥ 70 years had lower disease-free, distant recurrence-free, and breast cancer-specific survival rates compared to younger postmenopausal patients aged 50–69 years. With the continuous increase in life expectancy and advances in healthcare, it is critical to optimize treatment strategies for older patients with breast cancer to improve survival outcomes and enhance their quality of life.