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SLC26A3 and congenital chloride diarrhoea.

Congenital chloride diarrhoea (CLD, OMIM214700) is a rare genetic disease caused by mutations in a plasma membrane protein, the solute-linked carrier family 26 member A3 (SLC26A3) protein, which encodes for an epithelial anion exchanger for Cl- and HCO3-. The main clinical symptom is a lifetime watery diarrhoea with a high Cl- content and low pH, causing dehydration and hypochloremic metabolic alkalosis. CLD may be fatal, if not adequately treated by substitution of NaCl, KCl and fluid lost in the faeces. Long-term prognosis is generally favourable, but complications such as renal disease, inflammatory bowel disease, hyperuricemia, inguinal hernias, spermatoceles and male subfertility are possible. The role of dysfunctional SLC26A3 in the pathogenesis of these complications is poorly known. Altogether 30 different mutations of the SLC26A3 gene are currently known among patients with CLD; the most common of them being the three founder mutations present among Finns (V317del), Polish (I675676ins) and Arabic (G187X) populations. Individual variation in the clinical picture of CLD is common, but not known to associate with the genotype.

Antiporters↗

[Effect of HFMC injection of various concentrations on patency of vas deferens and resumption of fertility in rats].

Great efforts have been made to develop non-occlusive or non-ever-lasting-occlusive contraception devices in vas deferens during the recent decade at home and abroad. In our previous studies both in vivo and in vitro, polymer HFMC was found to have a spermicidal effect. In this investigation in SD rats, the relationship between the concentration of HFMC injected into the vas deferens and the resumption of fertility was studied by means of continual observations on the existence of sperms in vaginal smears from the caged female and on pup-birth delaying, so as to determine occlusion of the vas lumen and the effect of HFMC on contraception in male. The histopathological changes in the vas deferens and caudal epididymis of the HFMC-injected male rats were also observed. The results indicated: (1) HFMC in concentration over 7.5% could show temporary contraception effect by its slow releasing of H+; (2) HFMC could induce definite contraception effect which lasted longer as the concentration of HFMC given increased; (3) HFMC had no effect on the descendents in number, mortality, sex ratio, body weight and appearance; (4) the bilateral internal reproductive structures were identified normal after resumption of fertility, but 20% HFMC induced vas deferens occlusion and spermatoceles; (5) moderate concentration of HFMC was considered favorable for reversible intra-vas deferens contraception.

Animals↗

[Surgical treatment of obstructive azoospermia].

In 23 infertile men the diagnosis of azoospermia was established. Bilateral biopsy of the testes was made, in four patients primary deficiency of spermiogenesis was revealed, in another four patients the Sertoli cells only syndrome. In a group of 3 men with hypospermiogenesis revision revealed severe hypoplasia of the epididymis which in context with the bioptic finding did not give hope of successful surgery. In the group of four men with normal spermiogenesis revision revealed in one obliteration of the terminal portion of the d. deferens, treated by transurethral discision of the colliculus and in three its partial or total agenesis. In one of the three latter cases bilaterally artificial spermatoceles were implanted which function satisfactorily; in the aspirated contents, however, even after several months only non-motile sperm cells were found. In seven patients epididymovasoanastomosis was performed by the microscopic technique--five times unilateral and twice bilateral. In one patient a condition after bilateral vasectomy was involved which was resolved by vasovasoanastomosis. In three patients after epididymovasoanastomosis azoospermia persists. In another two patients the check-up spermiogram revealed a positive finding, the wife of one of the patients is pregnant at the moment. In one patient the result of the operation cannot be evaluated yet due to a short time interval after operation. One patient did not come for a check-up examination. The patient after vasovasoanastomosis has a positive spermiogram with 38 million sperm cells per ml. In one patient with a discision of the colliculus the spermiogram is negative. The cumulative index of patient anastomoses reported in the literature is approximately 45%, the percentage of pregnancies only 17-18%.

Adult↗

[Congenital absence of the vas deferens associated with retrocaval ureter: a case report].

Unilateral absence of the vas deferens is frequently associated with ipsilateral anomalies of the urinary tract. A case of congenital absence of the vas deferens on the right side was associated with retrocaval ureter in a 30-year-old male. He was married and sterile for two years. On scrotal exploration, both testicles were normal but the vas deferens and the body and the tail of the epididymis on the right side were absent. The tail of epididymis on the left side was obstructed. Therefore, we performed a vaso-epididymostomy on the left side and anastomosed an artificial spermatocele on the body of the right-sided epididymis. The diagnosis of retrocaval ureter was confirmed by the intravenous pyelography and the retrograde pyelography.

Adult↗

[Sexual dysfunction following radical operation for cancer of the rectum and colon].

Sexual dysfunction frequently occurs following radical operation for cancer of intrapelvic organs. However, the number of impotent patients with colon and rectal cancer who actually visited our Reproduction Center complaining of impotence after operation accounted for only 31 (1.8%) out of the 1,686 impotent cases during past 8 years; of these 31 patients who complained of impotence after operation by Miles method, 79% were considered to suffer from organic impotence, while 62% of those having undergone anterior resection suffered organic impotence. Even in cases in whom no erection occurs due to some disorder in the nervous system, intracavernous injection treatment using vasoactive agents (papaverine or prostaglandin E1) can be effective if the vascular system is normal. In cases which do not react to this treatment, intrapenile transplantation of various silicone prostheses is tried. Moreover, administration of sympathomimetic agents (imipramine and so on) is undertaken in cases with retrograde ejaculation, among those with ejaculatory disorders, and if no effect is obtained by this administration, artificial insemination is tried using semen ejaculated into the bladder. In cases in whom no ejaculation occurs, even into the bladder, artificial ejaculation is attempted by spinal infusion of prostigmin, and when no effect is obtained, artificial insemination is tried using semen retained in an artificial spermatocele implanted in the tail of the epididymis.

Colonic Neoplasms↗

Benign conditions of the external genitalia.

Benign mass lesions of the scrotum include spermatocele, hydrocele, varicocele, sperm granuloma after vasectomy, tuberculous masses, and epididymitis. A careful history and physical examination are paramount in making the diagnosis of a scrotal mass. Referral to a urologist is indicated for masses that do not transilluminate, are solid or fixed to the testicle, or for epididymitis that does not respond to antibiotics. Hydroceles associated with significant symptoms or with hernia and varicoceles with symptoms or associated infertility are also reasons for referral. After a sexual history is obtained, lesions of the anogenital area should be carefully inspected. Male partners of women with cervical dysplasia should be examined for evidence of human papillomavirus infection. Treatment of anogenital lesions resulting from a sexually transmitted disease involves both partners.

Anus Diseases↗

Association of asthenozoospermia with a deficiency of a seminal glycoprotein.

Two major glycoprotein bands (Rf 0.67 and 0.49) were detected with polyacrylamide disc gel electrophoresis in normal human semen, spermatocele fluid and prostatovesicular fluid. The most rapidly migrating band (Rf 0.67) was either present in only trace amounts or absent in asthenozoospermic semen. The protein moiety of this glycoprotein was present in normal and asthenozoospermic semen, but it was not glycosylated in asthenozoospermic semen. It is suggested that there is a relationship between this glycoprotein and the acquisition of sperm motility.

Electrophoresis, Polyacrylamide Gel↗

[Testicular scanning in intrascrotal lesions].

Testicular scanning with technetium-99m sodium pertechnetate was performed on 152 patients with a variety of intrascrotal lesions. Scrotal images were obtained serially in the perfusion, tissue phase, illustrating the features of each phase in various clinical conditions. The relationship of scrotal imaging to the overall clinical presentation and evaluation of these patients is emphasized in testicular torsion of the testicular appendix, epididymitis, abscess, trauma, tumor, spermatocele, and varicocele. Technical problems of the scanning are also discussed.

Adult↗

[Realtime sonography of intrascrotal space-occupying lesions].

In 848 examinations of the testes in 317 patients, including 253 follow-up and/or multiple follow-up examinations and 36 unilateral testicle examinations (e.g., orchidectomy, aplasia or nondescent) it was shown that sonography is a diagnostic method which is on the one hand capable of clearly differentiating cystic from solid space-occupying processes, and on the other hand also offers certain possibilities for evaluating the status of solid findings. Histologic identification of malignant tumors was only achieved with teratomas. The differential diagnostic problem was in differentiating scrotal tumors from focal orchitis, chronic epididymitis, testicular torsion and contusion, and in differentiation between paratesticular neoplasms and epididymitides. The testicular findings included testicular neoplasms, cicatrization and cysts of the tunic, sequelae of trauma, orchitis, cryptorchism, hypoplasia, aplasia, and testicular cysts. Paratesticular findings included hydroceles, spermatoceles, varicoceles, paratesticular neoplasms, epididymitides, paratesticular scars, and thickening of the testicular coat.

Diagnosis, Differential↗

Infertility in adult males with retractile testes.

The testicular biopsy, spermiogram, and hormonal assays performed on 23 infertile adult men with no other apparent cause of infertility than bilateral retractile testes are reported. Both luteinizing hormone and testosterone levels were normal, while follicle-stimulating hormone levels were normal or increased. The spermiogram showed oligozoospermia, asthenozoospermia, and severe teratospermia (tapering, amorphous, and immature forms). All the testicular specimens presented several focal histologic lesions, which were distributed in a mosaic pattern. The most frequent lesions were tubular lumen dilation, tubular diameter reduction, tunica propria thickening, tubular hyalinization, hypoplastic tubules, spermatocele, athrocytosis, vacuolation, or oncocytic transformation of Sertoli cell cytoplasm, maturation anomalies of spermatids, sloughing of immature spermatids, maturation arrests at the level of spermatids, primary spermatocytes or spermatogonia, germ cell hypoplasia, germ cell absence, peritubular and perivascular lymphocytic infiltrates, and venous angiectasis. These lesions seem to represent different progressive stages of tubular atrophy due to a temporary partial occlusion of the excretory ducts. This obstruction is probably caused by venous ectasia, which may be related to positional changes experienced by the testes during retraction.

Adult↗

Bacteriologically confirmed cases of ovine epididymo-orchitis caused by Brucella ovis in Sub-Carpathia.

During the eradication of Brucella ovis infection from five large breeding ram flocks of Sub-Carpathia (The Ukraine), the genital organs of 55 rams culled because of seropositivity in the agar-gel precipitation (AGP) test and ELISA were subjected to gross pathological, histopathological and bacteriological examination. The results of these examinations, as well as the properties of B. ovis strains isolated for the first time in the region are reported. Thirty-three out of the 55 pairs of epididymides and testicles (60%) showed gross lesions (chronic epididymitis associated with the formation of spermatocele, sperm granuloma or abscess). From the 55 pairs of epididymides and testicles examined, a total of 26 B. ovis strains were isolated: of them, 24 (92.3%) originated from breeding rams while 2 (7.7%) from ram hoggets kept together with the breeding rams. Seven out of the 26 B. ovis strains (26.9%) were cultured from the epididymides of rams which did not show palpable epididymal and/or testicular lesions. It is emphasized that chronic inflammatory processes were observed in both epididymides even if the clinically palpable epididymo-orchitis occurred unilaterally. Three out of the 26 B. ovis strains were derived from AGP-positive but ELISA-negative, while 5 from ELISA-positive but AGP-negative rams. The remaining B. ovis strains were isolated from the genital organs of rams found seropositive both by the AGP test and by ELISA. The cultural, morphological and most important biochemical properties of the 26 sub-Carpathian B. ovis strains were identical with those of the reference strain designated Weybridge 63/290 (NCTC 10512).

Animals↗

Treatment of hydroceles by aspirations and tetracycline instillations.

In conclusion, tetracycline hydrochloride is an effective and safe sclerosant for the treatment of hydrocele with entailing minimal side effects and low recurrence rate. However, it should not be recommended for the treatment of spermatocele in younger men who still wish to have children, because of the danger of drug epididymitis and resulting infertility. Hydrocele treatment can be performed in younger men who still wish to have children.

Adolescent↗

Where are we going?

Searching for answers to "Where are we going?" 10 predictions for the coming decade follow: 1. Recombinant agents. 2. Preimplantation genetic diagnosis and gene therapy. 3. Advances in basic science research. 4. Disappearance of gynecologic surgery for infertility. 5. Development of artificial organs: tubes, womb, and spermatoceles. 6. Investigation of male factors: identification of specific defects in spermatogenesis and functions of the epididymis. 7. Central nervous system manipulation through drugs. 8. Computer systems to diagnose and treat infertility. 9. Ethical issues will be resolved and managed more readily. 10. The electronic journal. I have speculated broadly and humbly apologize for my myopia, which will be far more evident with the inevitable arrival of many other important advances in the coming decade.

Artificial Organs↗

[Usefulness of diagnostic ultrasonography for evaluation of scrotal organs].

Scrotal sonography was performed on 172 patients treated for infertility ranging 1-10 years. The results of the sonographic examinations were compared with palpations. Pathological deviations were found in 71.5% of patients using sonography and ony 53.5% of patients examined clinically. Our study found varicocele in 55.2% of patients, spermatoceles in 6.4% of patients and pathological amount of fluid surrounding the testicles in 15.1% of patients. The results of our study show that sonography should be used for more exact and more correct findings in the examination of scrotal organs and accurate monitoring of applied treatment.

Adult↗

Assisted fertilization with epididymal spermatozoa.

In vitro fertilization is used for several years as a technique for resolving infertility problems due to moderate or severe oligospermia. More recently, techniques of micro-insemination of oocytes have also become available for cases of extremely severe oligospermia which cannot be resolved by classical I.V.F. Nevertheless, although these particular techniques have already led to results which have gone far beyond initial hopes, they are not able to resolve all cases of male sterility. There are indeed many situations of excretory azoospermia associated with normal spermatogenesis; the spermatozoa remain trapped in a more or less extensive part of the epididymis because its passage is blocked, either because of post-infectious sclerosis, or of agenesis of a variably extensive area of the Wolffian duct. Post-inflammatory occlusions can be treated by micro-surgery, whereas in cases of agenesis, attempts to collect spermatozoa by means of an artificial spermatocele have led to far too many failures, and this technique has now been abandoned, in spite of some successful pregnancies. The extraordinary development of in vitro fertilization techniques has led to the logical idea that it might be possible to collect epididymal spermatozoa for oocyte fertilization.

Epididymis↗

[Ultrasonographic diagnosis of polyorchidism].

In a 13-year-old boy echographic investigation of the scrotum was carried out because spermatocele was suspected. On the right side an extra testicle was observed. Polyorchism is a rare anomaly with, as far as we know, 74 cases reported in the literature. It may result from transverse splitting of the urogenital ridge in the 4th till the 6th week of the embryonal phase. The accompanying disorders include inguinal hernia, cryptorchism and torsion. Malignancy in the extra testicle has been reported in 4 cases only. In the absence of any accompanying disorder and if testicular tumor can be ruled out by ultrasonography, there is no need for surgical exploration.

Adolescent↗

[Brucella ovis infection in rams of the "white Alp" breed. Case report].

The clinical findings of seven "White Alp" rams are discussed. Six of the animals contracted Brucella ovis and exhibited signs of illness. The seventh animal indicated no Brucella ovis contact. The ejaculates of all rams showed significant changes. A spermatocele, typical for Brucella ovis, could be proven, pathologically and anatomically, in only one case. Brucella ovis was isolated from two samples. A brief discussion on the treatment of herds infected with Brucella ovis is included.

Animals↗

Clinical relevance of scrotal and transrectal ultrasonography in andrological patients.

Sonography of the scrotal contents, the prostate and the seminal vesicles has become an important diagnostic tool in andrology. In a prospective study of 1048 consecutive patients attending the Institute of Reproductive Medicine only 520 patients (49.6%) did not show sonographic abnormalities of the scrotal contents. The leading abnormality in the other 528 patients (50.4%) was a varicocele (194 patients, 18.5%), increased size of the epididymis (147 patients, 14.0%), epididymal cyst or spermatocele (55 patients, 5.2%), hydrocele (104 patients, 9.9%), testicular non-homogeneity (92 patients, 8.8%), testicular hypoechogenicity (132 patients, 12.6%), testicular cyst (12 patients, 1.1%) and testicular tumour (5 patients, 0.5%) (sum of percentages exceeds 50.4% because of multiple abnormalities in individual patients). In addition to the high incidence of pathological findings, the significantly higher incidence of testicular tumours compared to the general population and the early detection by ultrasonography render scrotal sonography a diagnostic procedure with high clinical relevance. Transrectal sonography of the prostate and seminal vesicles is valuable for detection of chronic urogenital infections or functional abnormalities of the seminal vesicles in infertile patients. In hypogonadal patients, transrectal examination of the prostate should be performed longitudinally to monitor the biological efficacy of testosterone treatment by measuring prostate growth and, in combination with palpation and PSA measurements, to screen for prostate cancer.

Humans↗