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1.
Asian J Androl ; 23(2): 140-145, 2021.
Article in English | MEDLINE | ID: mdl-32930103

ABSTRACT

Recent data suggest that cystic fibrosis transmembrane conductance regulator (CFTR) gene alterations negatively impact male fertility beyond obstruction. We sought to compare gene alterations, sperm retrieval rates, and intracytoplasmic sperm injection (ICSI) outcomes among men with cystic fibrosis (CF) disease and congenital bilateral absence of the vas deferens (CBAVD) only. We retrospectively evaluated all men who underwent surgical sperm retrieval at two academic, high-volume andrology centers from 2010 to 2018. Only men with documented CFTR alterations and obstructive azoospermia from either CBAVD or CF were included. Differences between groups for CFTR abnormality, sperm retrieval, and ICSI outcomes were statistically analyzed. Overall, 39 patients were included with 10 in the CF and 29 in the CBAVD groups. Surgical sperm retrieval rates were significantly lower in the CF group for sperm concentration (14.8 × 10[6] ml-1 vs 61.4 × 10[6] ml-1, P = 0.02) and total motile sperm count (2.9 million vs 11.4 million, P = 0.01). This difference was only predicted by homozygous delta F508 CFTR mutations (P < 0.05). The CF group also demonstrated a significantly higher rate of rescue testicular sperm extraction (70.0% vs 27.6%, P < 0.03) and lower fertilization rate with ICSI (32.5% vs 68.9%, P < 0.01). In conclusion, those with CF demonstrated lower sperm quality, greater difficulty with sperm retrieval, and worse ICSI outcomes compared with CBAVD-only patients. Homozygous delta F508 CFTR mutations appear to significantly impair spermatogenesis and sperm function.


Subject(s)
Azoospermia/therapy , Cystic Fibrosis/physiopathology , Male Urogenital Diseases/physiopathology , Sperm Injections, Intracytoplasmic , Sperm Retrieval , Vas Deferens/abnormalities , Adult , Azoospermia/etiology , Cystic Fibrosis/complications , Humans , Male , Male Urogenital Diseases/complications , Treatment Outcome , Vas Deferens/physiopathology
2.
Rev. int. androl. (Internet) ; 18(2): 43-49, abr.-jun. 2020. tab, graf
Article in Spanish | IBECS | ID: ibc-193758

ABSTRACT

OBJETIVOS: Evaluar los efectos de la resección transuretral de próstata (RTUP) monopolar (M-RTUP) y bipolar (B-RTUP) sobre la función sexual general. MÉTODOS: De diciembre de 2014 a septiembre de 2016, 100 candidatos elegibles con hiperplasia benigna de próstata fueron reclutados prospectivamente y aleatorizados 1:1 en 2 grupos M-RTUP/B-RTUP (58 y 42 pacientes, respectivamente) y seguidos al mes, 3 y 6 meses. Se realizó un análisis univariado y multivariado utilizando la prueba de chi cuadrado y un modelo de regresión logística. Analizamos la edad, los antecedentes médicos de hipertensión arterial y diabetes, los antecedentes de tabaquismo, el volumen prostático preoperatorio, la escala de síntomas prostáticos, la evaluación de la función sexual, la experiencia del cirujano, los gramos resecados, el porcentaje de tejido resecado y la presencia de eyaculación retrógrada. Los síntomas prostáticos y la evaluación de la función eréctil (FE) se cuantificaron utilizando puntuaciones de IPSS autoadministradas y IIEF-5, respectivamente, al inicio del estudio y en cada visita posterior. RESULTADOS: La edad promedio fue de 66 años (50-82). No se encontraron diferencias estadísticas entre ambos grupos con respecto a comorbilidades médicas, IPSS preoperatorio e IIEF-5. El volumen prostático medio fue de 37,2cm3 (10-68) y la cantidad media de tejido resecado fue de 11,75g (6-58). Al inicio del estudio, el 77,6% de los pacientes presentaban STUI graves, y el 50% tenía una disfunción eréctil moderada-grave. El análisis univariado demostró que, en ambos grupos, los antecedentes de diabetes mellitus, la edad y el IIEF-5 preoperatorio se asociaron con una peor FE. Sin embargo, el análisis multivariado reveló que la edad fue el único factor asociado con una peor FE. Estos resultados fueron similares a los 3 y 6 meses postoperatorios. No encontramos una asociación entre la experiencia del cirujano, el tipo de energía empleada o el porcentaje de tejido resecado con el desarrollo de eyaculación retrógrada postoperatoria (52%). En el primer mes postoperatorio, el 44% de los pacientes aún referían síntomas prostáticos moderados y el 50% tenían disfunción eréctil grave mantenida a los 6 meses en ambos grupos. CONCLUSIONES: No existen diferencias estadísticamente significativas con respecto al tipo de energía empleada y los cambios en la función sexual global. La edad es el único factor que se asocia a una peor FE


OBJECTIVES: To assess the effects of monopolar transurethral resection of the prostate (M-TURP) and bipolar TURP (B-TURP) on overall sexual function. METHODS: From December 2014 to September 2016, 100 eligible candidates with benign prostatic hyperplasia were prospectively recruited and randomized 1:1 into M-TURP/B-TURP arms (58 and 42 patients, respectively) and followed up at 1, 3 and 6 months. A univariate and multivariate analyses using the chi-squared test and a logistic regression model were performed. We recorded the age, medical conditions such as hypertension and diabetes, history of smoking, preoperative prostatic volume, prostatic symptoms scale, sexual function assessment, surgeon experience, resected grams, percentage of resected tissue and presence of retrograde ejaculation. Prostatic symptoms and erectile function (EF) assessment were quantified using self-administered IPSS scores and IIEF-5, respectively, at baseline and in each subsequent visit. RESULTS: Mean age was 66 years (50-82). No statistical differences were found between both groups regarding medical comorbidities, preoperative IPSS and IIEF-5. Mean prostatic volume was 37.2 cm3 (10-68) and mean amount of resected tissue was 11.75g (6-58). At baseline 77,6% of patients has severe LUTS, and 50% has moderate-severe erectile dysfunction. Univariate analyses show that in both groups, history of diabetes mellitus, age and preoperative IIEF-5 were associated with poor EF. However, multivariate analyses revealed that age was the only factor associated with a poor EF. These results were similar at 3 and 6 postoperative months. We did not find an association between surgeon experience, source of energy employed or percentage of resected tissue with the development of postoperative retrograde ejaculation (52%). At first postoperative month, 44% of patients were still referring moderate prostatic symptoms and 50% had severe erectile dysfunction maintained at 6 months in both groups. CONCLUSIONS: There were no differences between the source of energy employed and changes on overall sexual function. Age is the only factor associated with a poor EF status


Subject(s)
Humans , Male , Middle Aged , Aged , Aged, 80 and over , Prostatic Hyperplasia/surgery , Transurethral Resection of Prostate/methods , Prostatic Hyperplasia/complications , Erectile Dysfunction , Erectile Dysfunction/etiology , Prospective Studies , Ejaculation/physiology , Male Urogenital Diseases/physiopathology , Preoperative Period , Postoperative Period , Multivariate Analysis , Logistic Models , Risk Factors
4.
Free Radic Res ; 53(5): 497-521, 2019 May.
Article in English | MEDLINE | ID: mdl-31039624

ABSTRACT

The body of evidence from the past three decades demonstrates that oxidative stress can be involved in several diseases. This study aims to summarise the current state of knowledge on the association between oxidative stress and the pathogenesis of some characteristic to the biological systems diseases and aging process. This review also presents the effect of physical activity on redox homeostasis. There is strong evidence from studies for participation of reactive oxygen and nitrogen species in pathogenesis of acute and chronic diseases based on animal models and human studies. Elevated levels of pro-oxidants and various markers of the oxidative stress and cells and tissues damage linked with pathogenesis of cancer, atherosclerosis, neurodegenerative diseases hypertension, diabetes mellitus, cardiovascular disease, atherosclerosis, reproductive system diseases, and aging were reported. Evidence confirmed that inflammation contributes widely to multiple chronic diseases and is closely linked with oxidative stress. Regular moderate physical activity regulates oxidative stress enhancing cellular antioxidant defence mechanisms, whereas acute exercise not preceded by training can alter cellular redox homeostasis towards higher level of oxidative stress. Future studies are needed to clarify the multifaceted effects of reactive oxygen/nitrogen species on cells and tissues and to continue study on the biochemical roles of antioxidants and physical activity in prevention of oxidative stress-related tissue injury.


Subject(s)
Aging/metabolism , Cardiovascular Diseases/metabolism , Diabetes Mellitus/metabolism , Exercise , Female Urogenital Diseases/metabolism , Male Urogenital Diseases/metabolism , Neoplasms/metabolism , Neurodegenerative Diseases/metabolism , Animals , Cardiovascular Diseases/physiopathology , Diabetes Mellitus/physiopathology , Female , Female Urogenital Diseases/physiopathology , Homeostasis/physiology , Humans , Male , Male Urogenital Diseases/physiopathology , Neoplasms/physiopathology , Neurodegenerative Diseases/physiopathology , Oxidation-Reduction , Oxidative Stress , Reactive Nitrogen Species/metabolism , Reactive Oxygen Species/metabolism
5.
Urol Clin North Am ; 45(4): 587-599, 2018 Nov.
Article in English | MEDLINE | ID: mdl-30316313

ABSTRACT

Improved understanding of the pathogenesis and natural history of many urologic disorders, as well as advances in fertility preservation techniques, has increased the awareness of and options for management of fertility threats in pediatric patients. In children, fertility may be altered by oncologic conditions, by differences in sexual differentiation, by gonadotoxic drugs and other side effects of treatment for nonurologic disorders, and by urologic conditions, such as varicocele and cryptorchidism. Although fertility concerns are best addressed in a multidisciplinary setting, pediatric urologists should be aware of the underlying pathophysiology and management options to properly counsel and advocate for patients.


Subject(s)
Fertility Preservation/methods , Fertility , Male Urogenital Diseases/surgery , Urology , Child , Humans , Male , Male Urogenital Diseases/physiopathology
6.
Minerva Ginecol ; 70(5): 561-587, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30264954

ABSTRACT

This review article centers upon family of gonadotropin hormones which consists of two pituitary hormones - follicle-stimulating hormone (FSH) and luteinizing hormone (LH) as well as one non-pituitary hormone - human chorionic gonadotropin (hCG) secreted by placenta, and their receptors. Gonadotropins play an essential role in proper sexual development, puberty, gametogenesis, maintenance of pregnancy and male sexual differentiation during the fetal development. They belong to the family of glycoprotein hormones thus they constitute heterodimeric proteins built of common α subunit and hormone-specific ß-subunit. Hitherto, several mutations in genes encoding both gonadotropins and their receptors have been identified in humans. Their occurrence resulted in a number of different phenotypes including delayed puberty, primary amenorrhea, hermaphroditism, infertility and hypogonadism. In order to understand the effects of mutations on the phenotype observed in affected patients, detailed molecular studies are required to map the relationship between the structure and function of gonadotropins and their receptors. Nonetheless, in vitro assays are often insufficient to understand physiology. Therefore, several animal models have been developed to unravel the physiological roles of gonadotropins and their receptors.


Subject(s)
Chorionic Gonadotropin/physiology , Follicle Stimulating Hormone/physiology , Luteinizing Hormone/physiology , Animals , Chorionic Gonadotropin/genetics , Female , Female Urogenital Diseases/genetics , Female Urogenital Diseases/physiopathology , Follicle Stimulating Hormone/genetics , Humans , Luteinizing Hormone/genetics , Male , Male Urogenital Diseases/genetics , Male Urogenital Diseases/physiopathology , Models, Animal , Mutation , Phenotype , Pregnancy , Receptors, Gonadotropin/genetics , Receptors, Gonadotropin/physiology
7.
Minerva Ginecol ; 70(5): 497-515, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30264955

ABSTRACT

Dysregulation at any level of the hypothalamic-pituitary-gonadal (HPG) axis results in, or aggravates, a number of hormone-dependent diseases such as delayed or precocious puberty, infertility, prostatic and ovarian cancer, benign prostatic hyperplasia, polycystic ovarian syndrome, endometriosis, uterine fibroids, lean body mass, as well as metabolism and cognitive impairment. As gonadotropin-releasing-hormone (GnRH) is an essential regulator of the HPG axis, agonist and antagonist analogs are efficacious in the treatment of these conditions. GnRH analogs also play an important role in assisted reproductive therapies. This review highlights the current and future therapeutic potential of GnRH analogs and upstream regulators of GnRH secretion.


Subject(s)
Drug Design , Gonadotropin-Releasing Hormone/analogs & derivatives , Hypothalamo-Hypophyseal System/physiopathology , Animals , Female , Female Urogenital Diseases/drug therapy , Female Urogenital Diseases/physiopathology , Gonadotropin-Releasing Hormone/metabolism , Humans , Male , Male Urogenital Diseases/drug therapy , Male Urogenital Diseases/physiopathology , Reproductive Techniques, Assisted
9.
Curr Drug Targets ; 19(6): 602-612, 2018.
Article in English | MEDLINE | ID: mdl-28117002

ABSTRACT

The sympathetic nervous system is one component of the nervous regulatory system of the physiological function of the lower genitourinary tract. Our knowledge on the role of this sympathetic system has advanced during the last decade due to the characterization of ß3-adrenoceptors (ß3-ARs) in the urogenital system. This review focuses on the pharmacological and molecular evidence supporting the functional roles of ß3-AR in male genitourinary tissues of various species. An electronic search in two different databases was performed including MEDLINE (PubMed) and EMBASE from 2010 to 2016. ß3-agonists may be a promising alternative to antimuscarinics in the treatment of overactive bladder (OAB) based on available evidence. Although more recent studies have evaluated the involvement of ß3-ARs in the physiological control and regulation of various tissues of the lower genitourinary tract mainly urinary bladder, penis, urethra, ureter, there are few innovations in the pipe-line. Among the ß3-agonists, mirabegron is a unique drug licensed for the treatment of patients with OAB. Many drugs classified as ß3-agonists are still under investigations for the treatment of OAB, lower urinary tract symptoms, ureteral stones, benign prostate hyperplasia, prostate cancer and erectile dysfunction. This review discusses the potential roles of ß3-AR as new therapeutic targets by evaluating the results of preclinical and clinical studies related to male lower genitourinary tract function. Looking into the future, the potential benefits of ß3- AR agonists from experimental and clinical investigations may provide an attractive therapeutic option.


Subject(s)
Adrenergic beta-3 Receptor Agonists/therapeutic use , Male Urogenital Diseases/drug therapy , Receptors, Adrenergic, beta-3/drug effects , Acetanilides/pharmacology , Acetanilides/therapeutic use , Adrenergic beta-3 Receptor Agonists/pharmacology , Animals , Humans , Lower Urinary Tract Symptoms/drug therapy , Lower Urinary Tract Symptoms/physiopathology , Male , Male Urogenital Diseases/physiopathology , Muscarinic Antagonists/therapeutic use , Receptors, Adrenergic, beta-3/metabolism , Thiazoles/pharmacology , Thiazoles/therapeutic use , Urinary Bladder, Overactive/drug therapy , Urinary Bladder, Overactive/physiopathology
10.
Low Urin Tract Symptoms ; 10(2): 181-185, 2018 May.
Article in English | MEDLINE | ID: mdl-27990783

ABSTRACT

OBJECTIVES: The use of fluoroscopy during urodynamics can be helpful in the evaluation of patients with lower urinary tract dysfunction. However, fluoroscopy introduces the potential hazards of ionizing radiation, including malignancy. In this study we analyzed the data for radiation exposure during videourodynamic study (VUDS) at our center; we have also tried to establish the factors associated with increased exposure to radiation during VUDS. METHODS: We reviewed all VUDS from August 2010 to May 2011. Patients were included if they were ≥18 years old and had data recorded on total radiation exposure (radcm2 ). Age, sex, body mass index, fluoroscopy time, diagnosis, and urodynamic findings were recorded. Multivariate linear regression analysis was used to identify independent risk factors that influenced increased radiation exposure. RESULTS: A total of 203 videourodynamic studies were assessed in 106 female and 97 male patients with a mean age of 64.3 and body mass index of 26.8. The average fluoroscopy time was 100.2 sec and exposure was 560.9 radcm2 . The most common indication for videourodynamics was incontinence, 40.9%. On multivariate linear regression analysis body mass index, vesico-ureteral reflux, sex, number of fill cycles, and larger capacity were independent predictors of increased radiation exposure. CONCLUSIONS: We have shown that increased radiation exposure as measure with Dose Area Product during VUDS was significantly associated with larger BMI, female gender, larger bladder capacity, presence of VUR, junior operator, and higher number of fill cycles. Further studies are now underway to attempt to reduce exposure based on these findings.


Subject(s)
Radiation Exposure , Urodynamics/physiology , Body Mass Index , Female , Female Urogenital Diseases/physiopathology , Fluoroscopy/adverse effects , Humans , Male , Male Urogenital Diseases/physiopathology , Middle Aged , Radiation Dosage , Retrospective Studies , Risk Factors , Video Recording
11.
Rheumatology (Oxford) ; 56(11): 1962-1969, 2017 11 01.
Article in English | MEDLINE | ID: mdl-28968886

ABSTRACT

Objectives: There are few data on clinical profiles of ANCA-associated vasculitis (AAV) in different ethnic populations. The aim of this study was to examine the differences in the ANCA type and clinical features of AAV between populations using the Diagnostic and Classification Criteria in Vasculitis Study (DCVAS) dataset. Methods: The DCVAS is an international, multicentre, observational study recruiting in 133 sites. Eight ethnic categories were analysed: Northern European, Caucasian American, Southern European, Middle Eastern/Turkish, Chinese, Japanese, Indian subcontinent and other. ANCA type was categorized as myeloperoxidase (MPO), PR3 and ANCA negative. Organ system involvement was recorded using a standard dataset. Differences were analysed by chi-squared tests using a Bonferroni correction and logistic regression (adjusting for age and sex). Northern European was the reference population. Results: Data from 1217 patients with AAV were available and the 967 (79.5%) patients recruited by rheumatology departments were analysed to reduce confounding by recruitment specialty. There were differences in ANCA type between ethnic categories (P < 0.001): MPO-ANCA was more common than PR3-ANCA in Japanese, Chinese and Southern Europeans; PR3-ANCA was more common in the other groups. Compared with Northern Europeans, Japanese had a nearly 60-fold increased chance of having MPO-ANCA (vs PR3-ANCA) [odds ratio (OR) 59.2 (95% CI 8.0, 440.7), P < 0.001] and Chinese had a nearly 7-times increased chance [OR 6.8 (95% CI 2.6, 17.8), P < 0.001]. Ophthalmologic and otorhinolaryngologic involvement were less common in Japanese and Chinese populations than Northern Europeans; otherwise, there were few differences in organ involvement between ethnic groups. Conclusion: This study confirms the previously observed differential occurrence of MPO-AAV and PR3-AAV between different ethnic groups.


Subject(s)
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/physiopathology , Eye Diseases/physiopathology , Kidney Diseases/physiopathology , Otorhinolaryngologic Diseases/physiopathology , Skin Diseases/physiopathology , Aged , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/complications , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/ethnology , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/immunology , Antibodies, Antineutrophil Cytoplasmic/immunology , Arabs , Asian People , China/epidemiology , Europe/epidemiology , Eye Diseases/etiology , Female , Female Urogenital Diseases/etiology , Female Urogenital Diseases/physiopathology , Heart Diseases/etiology , Heart Diseases/physiopathology , Humans , India/epidemiology , Japan/epidemiology , Kidney Diseases/etiology , Male , Male Urogenital Diseases/etiology , Male Urogenital Diseases/physiopathology , Middle Aged , Middle East/epidemiology , Myeloblastin/immunology , Nervous System Diseases/etiology , Nervous System Diseases/physiopathology , Odds Ratio , Otorhinolaryngologic Diseases/etiology , Peroxidase/immunology , Respiratory Tract Diseases/etiology , Respiratory Tract Diseases/physiopathology , Skin Diseases/etiology , Turkey/epidemiology , United States/epidemiology , White People
12.
Int Rev Neurobiol ; 134: 771-785, 2017.
Article in English | MEDLINE | ID: mdl-28805582

ABSTRACT

Parkinson's disease is characterized by motor, autonomic, and neuropsychiatric symptoms. These occur in varying degrees in all stages of the disease. Among the autonomic disorders, cardiovascular, urogenital, gastrointestinal, and thermoregulatory disorders are particularly relevant. Because of the significant impact on the quality of life, appropriate diagnostics and therapy should be carried out at all stages of the disease. Within cardiovascular disorders drop of blood pressure after orthostasis and nondipper behavior are very important, but also the influence of cardiovascular medication. Nocturnal sweating is the most common problem of thermoregulation disturbances, for which there is no satisfactory therapy. Urgency, nocturia, and incontinence are of particular note within the urological problems.


Subject(s)
Autonomic Nervous System Diseases/physiopathology , Body Temperature Regulation/physiology , Cardiovascular Diseases/physiopathology , Female Urogenital Diseases/physiopathology , Male Urogenital Diseases/physiopathology , Parkinson Disease/physiopathology , Autonomic Nervous System Diseases/diagnosis , Autonomic Nervous System Diseases/epidemiology , Cardiovascular Diseases/diagnosis , Cardiovascular Diseases/epidemiology , Female , Female Urogenital Diseases/diagnosis , Female Urogenital Diseases/epidemiology , Humans , Male , Male Urogenital Diseases/diagnosis , Male Urogenital Diseases/epidemiology , Parkinson Disease/diagnosis , Parkinson Disease/epidemiology , Quality of Life
13.
Hong Kong Med J ; 23(3): 272-81, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28473654

ABSTRACT

Urological problems in children are often encountered in general clinical practice. This review forms the second paper of our series on common urological problems in children about inguinoscrotal pathologies. We aimed to provide concise information for doctors who are unfamiliar with this topic.


Subject(s)
Female Urogenital Diseases/physiopathology , Male Urogenital Diseases/physiopathology , Scrotum/pathology , Child , Female , Female Urogenital Diseases/epidemiology , Hernia, Inguinal/epidemiology , Hernia, Inguinal/pathology , Humans , Male , Male Urogenital Diseases/epidemiology , Testicular Diseases/epidemiology , Testicular Diseases/physiopathology
14.
Fertil Steril ; 107(2): 305-311, 2017 02.
Article in English | MEDLINE | ID: mdl-28073432

ABSTRACT

As men age, medical and surgical diseases involving the genitourinary tract become more common. The conditions themselves, if not their treatments, can negatively impact the fertility potential of an affected man. Many older men maintain the desire to father children, so it is critical to understand the disturbed anatomy and physiology involved to properly counsel that individual. Should this or that treatment regimen be employed? Should sperm banking be undertaken before institution of a permanently ablative/suppressive therapy? What are the long-term consequences of one therapy over another vis-à-vis sperm production, sperm quality, and/or sperm transport? In this context, some of the more common genitourinary afflictions of the older male and the treatment options that are available will be discussed.


Subject(s)
Fertility , Infertility, Male/etiology , Male Urogenital Diseases/therapy , Paternal Age , Spermatogenesis , Spermatozoa/pathology , Age Factors , Aged , Aged, 80 and over , Fertility/drug effects , Fertility/radiation effects , Humans , Infertility, Male/physiopathology , Infertility, Male/prevention & control , Male , Male Urogenital Diseases/complications , Male Urogenital Diseases/physiopathology , Middle Aged , Risk Assessment , Risk Factors , Spermatogenesis/drug effects , Spermatogenesis/radiation effects , Spermatozoa/drug effects , Spermatozoa/radiation effects
15.
J Nephrol ; 30(2): 211-218, 2017 Apr.
Article in English | MEDLINE | ID: mdl-26946416

ABSTRACT

BACKGROUND: While reproductive technologies are increasingly used worldwide, epidemiologic, clinical and genetic data regarding infertile men with combined genital tract and renal abnormalities remain scarce, preventing adequate genetic counseling. METHODS: In a cohort-based study, we assessed the prevalence (1995-2014) and the clinical characteristics of renal disorders in infertile males with genital tract malformation. In a subset of 34 patients, we performed a detailed phenotype analysis of renal and genital tract disorders. RESULTS: Among the 180 patients with congenital uni- or bilateral absence of vas deferens (CU/BAVD), 45 (25 %) had a renal malformation. We also identified 14 infertile men with combined seminal vesicle (SV) and renal malformation but no CU/BAVD. Among the 34 patients with detailed clinical description, renal disease was unknown before the assessment of the infertility in 27 (79.4 %), and 7 (20.6 %) had chronic renal failure. Four main renal phenotypes were observed: solitary kidney (47 %); autosomal-dominant polycystic kidney disease (ADPKD, 0.6 %); uni- or bilateral hypoplastic kidneys (20.6 %); and a complex renal phenotype associated with a mutation of the HNF1B gene (5.8 %). Absence of SV and azoospermia were significantly associated with the presence of a solitary kidney, while dilatation of SV and necroasthenozoospermia were suggestive of ADPKD. CONCLUSION: A dominantly inherited renal disease (ADPKD or HNF1B-related nephropathy) is frequent in males with infertility and combined renal and genital tract abnormalities (26 %). A systematic renal screening should be proposed in infertile males with CU/BAVD or SV disorders.


Subject(s)
Fertility/genetics , Genetic Counseling , Hepatocyte Nuclear Factor 1-beta/genetics , Infertility, Male , Kidney/abnormalities , Male Urogenital Diseases/genetics , Mutation , Polycystic Kidney, Autosomal Dominant/genetics , Vas Deferens/abnormalities , Adult , Female , France/epidemiology , Genetic Predisposition to Disease , Humans , Infertility, Male/diagnosis , Infertility, Male/epidemiology , Infertility, Male/genetics , Infertility, Male/physiopathology , Kidney/physiopathology , Live Birth , Male , Male Urogenital Diseases/epidemiology , Male Urogenital Diseases/physiopathology , Male Urogenital Diseases/therapy , Middle Aged , Phenotype , Polycystic Kidney, Autosomal Dominant/epidemiology , Polycystic Kidney, Autosomal Dominant/physiopathology , Polycystic Kidney, Autosomal Dominant/therapy , Pregnancy , Pregnancy Rate , Prevalence , Reproductive Techniques, Assisted , Retrospective Studies , Risk Assessment , Risk Factors , Tomography, X-Ray Computed , Treatment Outcome , Vas Deferens/physiopathology
17.
Mol Hum Reprod ; 20(9): 827-35, 2014 Sep.
Article in English | MEDLINE | ID: mdl-24958810

ABSTRACT

Cystic fibrosis (CF) is usually considered a rare disease in the Indian population. Two studies have reported on the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Indian males with congenital absence of the vas deferens (CAVD), however, data on the spectrum of CFTR gene mutations are still lacking. Therefore, the present study was designed to identify the spectrum of CFTR gene mutations as well as to investigate an association of CF genetic modifiers in the penetrance of CAVD in infertile Indian men. A total of 60 consecutive infertile males with a diagnosis of CAVD were subjected to CFTR gene analysis which revealed 13 different CFTR gene mutations and 1 intronic variant that led to aberrant splicing. p.Phe508del (n = 16) and p.Arg117His (n = 4) were among the most common severe forms of CFTR mutations identified. The IVS8-T5 allele, which is considered as a mild form of CFTR mutation, was found with an allelic frequency of 28.3%. Eight novel mutations were also identified in the CFTR gene from our patient cohort. It is noteworthy that the spectrum of CFTR gene mutation is heterogeneous, with exon 4 and exon 11 as hot spot regions. Moreover, we also found an association of the CF genetic modifiers, viz., transforming growth factor (TGF)-ß1 and endothelial receptor type-A (EDNRA) genes with the CAVD phenotype. The findings are of considerable clinical significance because men suffering from infertility due to CAVD can decide to use artificial reproduction technology. The children of men with CAVD are at risk of carrying CFTR mutations; therefore, genetic counseling is a crucial step for such patients. With special reference to developing countries, such as India, where whole gene sequencing is not feasible, the outcome of our study will make the screening procedure for CFTR gene simpler and more cost-effective as we have identified hot spot regions of the CFTR gene which are more prone to mutation in Indian males with CAVD. Moreover, this is the first study from the Indian population to investigate the association of CF genetic modifiers with penetrance of the CAVD phenotype. The observed association of the genetic modifiers TGF-ß1 and EDNRA in the penetrance of CAVD further supports their involvement in genesis of the vas deferens.


Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Male Urogenital Diseases/genetics , Mutation , Polymorphism, Single Nucleotide , Receptor, Endothelin A/genetics , Transforming Growth Factor beta1/genetics , Vas Deferens/abnormalities , Adult , Alleles , Alternative Splicing , Cohort Studies , Cystic Fibrosis/genetics , Cystic Fibrosis/metabolism , Cystic Fibrosis Transmembrane Conductance Regulator/metabolism , Exons , Gene Frequency , Genetic Association Studies , Genetic Counseling , Humans , India , Infertility, Male/etiology , Introns , Male , Male Urogenital Diseases/metabolism , Male Urogenital Diseases/physiopathology , Penetrance , Promoter Regions, Genetic , Receptor, Endothelin A/metabolism , Transforming Growth Factor beta1/metabolism , Vas Deferens/metabolism , Vas Deferens/physiopathology
18.
Radiother Oncol ; 110(2): 284-90, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24411226

ABSTRACT

PURPOSE: To determine the impact of late radiation-induced toxicity on health-related quality of life (HRQoL) among patients with prostate cancer. PATIENTS AND METHODS: The study sample was composed of 227 patients, treated with external beam radiotherapy. Common Terminology Criteria for Adverse Events version 3.0 were used to grade late genitourinary and gastrointestinal toxicity. The European Organization for Research and Treatment of Cancer Quality of life Questionnaire C30 (EORTC QLQ-C30) was used to assess HRQoL at baseline, and 6, 12 and 24 months after completion of radiotherapy. Statistical analysis was performed using a multivariate analysis of variance (MANOVA). RESULTS: Urinary incontinence and rectal discomfort significantly affected HRQoL. The impact of urinary incontinence on HRQoL was most pronounced 6 months after radiotherapy and gradually decreased over time. The impact of rectal discomfort on HRQoL was predominant at 6 months after radiotherapy, decreased at 12 months and increased again 2 years after radiotherapy. No significant impact on HRQoL was observed for any of the other toxicity endpoints, or non-toxicity related factors such as hormonal therapy, radiotherapy technique or age. CONCLUSION: Urinary incontinence and rectal discomfort have a significant impact on HRQoL. Prevention of these side effects may likely improve quality of life of prostate cancer patients after completion of treatment.


Subject(s)
Gastrointestinal Tract/radiation effects , Prostatic Neoplasms/radiotherapy , Radiation Injuries/etiology , Radiation Injuries/physiopathology , Urogenital System/radiation effects , Aged , Analysis of Variance , Gastrointestinal Diseases/etiology , Gastrointestinal Diseases/physiopathology , Gastrointestinal Tract/physiopathology , Health Status , Humans , Male , Male Urogenital Diseases/etiology , Male Urogenital Diseases/physiopathology , Middle Aged , Quality of Life , Urogenital System/physiopathology
19.
Curr Opin Urol ; 23(6): 520-7, 2013 Nov.
Article in English | MEDLINE | ID: mdl-24080811

ABSTRACT

PURPOSE OF REVIEW: This review examines the evidence to date, and summarizes the indications, technical and surgical aspects, risk factors and challenges of peer-reviewed artificial sphincters in the treatment of male stress urinary incontinence (SUI). RECENT FINDINGS: Although new devices have been introduced, the AMS 800 continues to be the most implanted and reported on artificial urinary sphincter (AUS) worldwide. Although the AUS seems to be effective in the treatment of neurogenic and non-neurogenic SUI, large randomized, controlled trials are missing. Urethral erosion, atrophy and infection are the primary reported risk factors for high revision rates with most surgeons performing less than three implants per year. Transurethral catheterization has been identified as the main risk factor for urethral erosion. Surgical modifications have been reported with good outcomes. The perineal implantation of a single cuff continues to be the most frequently used procedure, but transcorporal implantation may be helpful in salvage situations. Recent device improvements, such as the antibiotic coating, do not seem to influence infection rates. New devices continued to be introduced; however, short-term and long-term results in larger studies are required. Patients with concomitant SUI and erectile dysfunction have the option of a synchronous implantation with an AUS and penile prosthesis with similar results. SUMMARY: Despite the low level of evidence, the AUS is well tolerated, effective and recommended for male SUI treatment in urological guidelines. Implantation in high-volume experienced centers is strongly recommended. Comprehensive patient counselling is required to prevent complications and necessary revisions.


Subject(s)
Male Urogenital Diseases/surgery , Urinary Incontinence, Stress/surgery , Urinary Sphincter, Artificial , Humans , Male , Male Urogenital Diseases/physiopathology , Treatment Outcome , Urinary Incontinence, Stress/physiopathology , Urodynamics/physiology , Urogenital Surgical Procedures
20.
Curr Opin Urol ; 23(6): 509-14, 2013 Nov.
Article in English | MEDLINE | ID: mdl-24080813

ABSTRACT

PURPOSE OF REVIEW: A review of the diagnosis of male urinary incontinence, with particular reference to studies published within the last year. RECENT FINDINGS: One of the most important studies from the last year is the drafting of a bladder diary, consistent with the International Consultation on Incontinence modular Questionnaire modules. Patients and clinicians have been consulted on content and format, and further phases are intended to test validity and reliability of the diary. SUMMARY: Initial assessment of men with incontinence involves a focussed history, examination and simple investigations. It is imperative to accurately define terminology of lower urinary tract symptoms. Questionnaires and bladder diaries are important adjuncts. Further urodynamic assessment may also aid diagnosis, particularly in situations where surgery is contemplated.


Subject(s)
Male Urogenital Diseases/classification , Male Urogenital Diseases/diagnosis , Urinary Incontinence/classification , Urinary Incontinence/diagnosis , Disease Management , Humans , Male , Male Urogenital Diseases/physiopathology , Medical Records , Reproducibility of Results , Surveys and Questionnaires , Urinary Incontinence/physiopathology , Urodynamics/physiology
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