Ayse Serap Yalin

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

The timely secretion of gonadal sex steroids is essential for the initiation of puberty, the postpubertal maintenance of secondary sexual characteristics and the normal perinatal development of male external genitalia. Normal gonadal steroid production requires the actions of the pituitary-derived gonadotropins, luteinizing hormone and follicle-stimulating hormone. We report four human pedigrees with severe congenital gonadotropin deficiency and pubertal failure in which all affected individuals are homozygous for loss-of-function mutations in TAC3 (encoding Neurokinin B) or its receptor TACR3 (encoding NK3R). Neurokinin B, a member of the substance P–related tachykinin family, is known to be highly expressed in hypothalamic neurons that also express kisspeptin, a recently identified regulator of gonadotropin-releasing hormone secretion. These findings implicate Neurokinin B as a critical central regulator of human gonadal function and suggest new approaches to the pharmacological control of human reproduction and sex hormone-related diseases.

Obesity might not be a risk factor for female sexual dysfunction.

Study Type – Aetiology (case control)
Level of Evidence 3b

ORIGINAL RESEARCH—WOMEN'S SEXUAL HEALTH: Is Sexual Dysfunction in Women with Obstructive Sleep Apnea‐Hypopnea Syndrome Associated with the Severity of the Disease? A Pilot Study

INTRODUCTION Obstructive sleep apnea-hypopnea syndrome (OSAHS) may have a significant negative effect on sexual function. AIM To evaluate female sexual function in women with OSAHS. METHODS Twenty-six patients with OSAHS were evaluated in two groups according to apnea-hypopnea index as mild (5-15, Group I, N = 16) or moderate-severe (>or=15, Group II, N = 10). A third group (N = 10) of patients suspected of sleeping disorders other than OSAHS who also underwent polysomnographic studies served as the control group. All women were evaluated with a detailed sexual history including Female Sexual Function Index (FSFI) questionnaire and Beck Depression Inventory (BDI). Meanwhile, serum levels of estradiol, prolactin, total and free testosterone and dihydroepiandrostenedione-S were determined. MAIN OUTCOME MEASURES FSFI, BDI, and serum hormonal levels. RESULTS The mean ages and total FSFI scores of Group I, Group II and the control group were 46 +/- 7.1, 45 +/- 3.8, and 41 +/- 5.4 (P > 0.05); 24.7 +/- 5.3, 24.5 +/- 6.3, and 30.0 +/- 2.5 (P < 0.05), respectively. The mean FSFI domain scores were not statistically different between Groups I and II (P > 0.05) (desire, 3.18 +/- 1.2 vs. 2.92 +/- 1.6; arousal, 3.96 +/- 1.1 vs. 3.67 +/- 1.2; lubrication, 4.83 +/- 1.0 vs. 4.12 +/- 1.1; orgasm 4.0 +/- 1.1 vs. 5.15 +/- 2.9; satisfaction 3.96 +/- 1.1 vs. 4.05 +/- 1.4 pain; 4.84 +/- 1.2 vs. 4.65 +/- 1.3). However, the mean scores of desire (3.18 +/- 1.2 vs. 3.96 +/- 0.7), orgasm (4.0 +/- 1.1 vs. 5.0 +/- 1.1), and satisfaction (3.96 +/- 1.1 vs. 4.76 +/- 1.0) domains of Group I were significantly lower than the control group. Meanwhile, the mean scores of desire (2.92 +/- 1.6 vs. 3.96 +/- 0.7) and lubrication (4.12 +/- 1.1 vs. 5.22 +/- 0.9) domains were statistically different between Group II and the control group. The mean BDI scores of patients in Group I, Group II and the control group were 19.3 +/- 6.3, 20.2 +/- 6.6, and 11.0 +/- 7.1, respectively (P < 0.01). In addition, the mean levels of hormonal parameters were not significantly different from the control group (P > 0.05). CONCLUSIONS OSAHS is associated with a significant decrease in female sexual function. However, severity of OSAHS is not related with the degree of female sexual dysfunction (FSD). This situation reveals that both organic and psychogenic issues are being involved in FSD related with OSAHS.

Fungal peritonitis in peritoneal dialysis: risk factors and prognosis.

Although less common than bacterial peritonitis, fungal peritonitis is associated with much higher morbidity and mortality. In this study, we aimed to determine the risk factors for fungal peritonitis in peritoneal dialysis patients. The records of 109 peritoneal dialysis patients were analyzed. A total of 86 episodes of peritonitis attacks were recorded. Nine (10.5%) of these attacks were fungal peritonitis attacks. The fungal peritonitis attack rate of the population was 1 attack per 480.1 patient months. In order to determine predisposing factors for fungal peritonitis patients, patients with bacterial peritonitis and with no peritonitis admitted immediately before and after those with fungal peritonitis were used as controls. There was no statistically significant difference between the bacterial and fungal peritonitis groups with respect to symptoms and signs. Obligatory peritoneal dialysis treatment due to access or other medical problems (p = 0.04) and serum albumin levels (p = 0.01) were found to be significantly related with fungal peritonitis (p = 0.04). The mortality rate was 11.1%. When compared with the mortality rate of bacterial peritonitis (1.8%) during the same period, it was found to be significantly higher (p = 0.0001). The catheter removal was performed within 2–7 days (mean = 5.2 days) of the fungal peritonitis attacks. In conclusion, we decided that because fungal peritonitis attacks end up with high morbidity and mortality, prompt diagnosis and removal of the catheter is mandatory. Diagnosis highly depends on culture results, as signs and symptoms usually do not differ from that of bacterial peritonitis. Low serum albumin levels and obligatory peritoneal dialysis treatment are found to be the risk factors for fungal peritonitis.

Obligatory referral among other factors associated with peritonitis in peritoneal dialysis patients

AIM Peritonitis is one of the major comorbidities of peritoneal dialysis (PD) patients. The aim of this study was to concentrate on potential risk factors, including more recently studied ones among the classical ones for peritonitis, in PD patients. MATERIALS AND METHODS We analysed 109 patients (F/M = 42/67) followed up at least for 3 months in a single centre, a tertiary referral hospital for 360.1 patient years. In the study which is designed as a retrospective cohort study, demographic characteristics, conditions for choosing PD, type of PD treatment, some chemical tests and peritonitis episodes were recorded from the files of the patients. RESULTS The rate of peritonitis was found to be 0.22 episode/patient year and 22 (20.18%) of the patients had more than one episode. Twenty seven (24.8%) of the patients were allocated to PD due to obligatory reasons. According to multiple regression analysis, the associated factors were found to be PD allocation type (obligatory versus voluntary) (p = 0.04; RR = 2.6), serum albumin level (p = 0.05; RR = 1.2), and anti-hepatitis C Virus Antibody positivity (p = 0.03; RR = 1.6). Frequency of female patients were significantly higher in the group who had multiple episodes (p = 0.01). CONCLUSION Obligatory referral which can be an indication of loss of motivation for peritoneal dialysis procedures, is thought to be a strong risk factor for peritonitis in PD patients and should be further studied. Patients with multiple episodes had a higher frequency of obligatory referral as expected and additionally, they were higher in number of females when compared to the ones with single episode.

Calciphylaxis: A Report of Six Cases and Review of Literature

Calciphylaxis is usually a fatal condition that develops in a few chronic renal failure patients, and it is characterized by calcifications in subcutaneous arteries, infarcts in skin, and the neighboring subcutis. Calciphylaxis, once considered as a rare condition, has been reported to have an annual incidence of 1% and a prevalence of 4% in dialysis patients. We describe our clinical experience in six end-stage renal disease patients on dialysis that presented with calciphylaxis and died due to sepsis, and review the pathogenesis, epidemiology, clinical and histopathologic features, and treatment of calciphylaxis. Physicians should initially consider the possibility of calciphylaxis in case of development of skin lesions in chronic renal failure patients with impaired calcium, phosphorus, and parathyroid hormone levels. The most important cause of mortality in this condition is infection. Therefore, differential diagnosis of these lesions from systemic vasculitis in their early stages and withdrawal of immunosuppressive therapy that increases the tendency to infections are essential.

Relationship between genomic damage and clinical features in dialysis patients.

Patients with end-stage renal disease display enhanced genomic damage. We investigated the presence of genomic damage in the peripheral lymphocytes by using the micronucleus (MN) test and the factors associated with the MN frequency in hemodialysis (HD) and peritoneal dialysis (PD) patients. We studied 121 dialysis patients (60 HD and 61 PD) and 129 age- and gender-matched healthy controls. The MN analysis, used as a biomarker of chromosomal/DNA damage, was performed in peripheral lymphocytes by the cytokinesis-block method. Univariate analysis showed a significantly higher MN frequency in all patients in comparison with the controls (7.6% ± 0.3% vs. 4.9% ± 0.2%, respectively, p<0.001). Significantly higher frequency of MN was observed in both HD and PD patients compared to controls (7.7% ± 0.5% vs. 4.9% ± 0.2%, p<0.001 and 7.5% ± 0.5% vs. 4.9% ± 0.2%, p<0.001, respectively). Multivariate analysis was performed, and it showed that the low-density lipoprotein level was the only independent determinant of increasing MN frequency in our patients (β=0.16, t=2.172, p<0.05). There is no significant difference in terms of genomic damage between two dialysis modalities, which suggests that PD may not be a more reliable choice in terms of genomic damage.

Transsphenoidal surgery, gamma-knife surgery and diabetes are the factors affecting the quality of life in acromegalic patients

AIM: Acromegaly is a chronic disease with an important impact on patients, Health Related Quality of Life (HRQoL). Acromegaly Quality of Life Questionnaire (AcroQoL) is a disease-generated QoL questionnaire comprising 22 questions each having five possible responses scored 1–5, the maximum score of 110 reflecting best possible QOL, and quoted as a percentage. The 22 items break down into two categories, physical and psychological function, the latter being subdivided into appearance and personal relationships. We aimed to investigate the factors affecting the QoL in acromegalic patients by using AcroQoL. TRANSSPHENOIDAL SURGERY, GAMMA-KNIFE SURGERY AND DIABETES ARE THE FACTORS AFFECTING THE QUALITY OF LIFE IN ACROMEGALIC PATIENTS