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E.b. Malheiros - One of the best experts on this subject based on the ideXlab platform.
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Criptorquismo em eqüinos: aspectos clínico-cirúrgicos e determinação da testosterona sérica Cryptorchism in horses: clinical and surgical aspects and serum testosterone determination
Universidade Federal de Minas Gerais, 2004Co-Authors: J.w. Cattelan, D.g. Macoris, P.a. Barnabé, E.c. Urbinati, E.b. MalheirosAbstract:Alguns aspectos clínico-cirúrgicos do criptorquismo foram investigados em 42 eqüinos. A freqüência da afecção foi elevada em cavalos Mangalarga, Quarto de Milha e sem raça definida que, em conjunto, totalizaram 73,8% dos casos. O criptorquismo abdominal (64,3%) predominou sobre o inguinal (35,7%). A retenção unilateral ocorreu na maioria dos casos (95,2%), com prevalência do criptorquismo abdominal unilateral esquerdo (45,2%). Também foi determinada a concentração da testosterona sérica em seis garanhões normais (grupo I) em plena atividade sexual (grupo-controle) e em 10 criptórquios (grupos II e III, respectivamente, cinco abdominais e cinco inguinais). A dosagem da testosterona sérica não revelou diferença (P> 0,05) entre os três grupos. Os achados indicam que a produção desse hormônio permanece inalterada no criptórquio, justificando seu comportamento sexual, semelhante ao do garanhão normal.Some clinical and surgical aspects of the Cryptorchism were investigated in 42 horses. Cryptorchism had a high frequency in Mangalarga, Quarter Horse, and mixed breed, 73.8% of the cases. Abdominal Cryptorchism was more prevalent than the inguinal, 64.3% and 35.7%, respectively. The unilateral retention occurred in most cases (95.2%), with a high frequency of left abdominal Cryptorchism (45.2%). The serum testosterone levels were also determined in six normal stallions (control group) and 10 cryptorchid horses (five abdominals and five inguinals). Serum testosterone concentration showed no difference (P> 0.05) among groups. The production of this hormone did not change in the Cryptorchism, therefore, justifying the similar sexual behavior of the cryptorchid horse and normal stallions
Klein Annelies - One of the best experts on this subject based on the ideXlab platform.
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Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
2010Co-Authors: Veken Lars, Dieleman Marianne, Douben Hannie, Brug Judith, Graaf Raoul, Hoogeboom Jeannette, Poddighe Pino, Klein AnneliesAbstract:textabstractBackground. Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. Results. We report a 24 years old male patient with lower spinal anomalies, hypospadia, bifid scrotum, Cryptorchism, anal atresia, kidney stones, urethra anomalies, radial dysplasia, and a hypoplastic thumb. Some of the anomalies overlap with the VACTERL association. Chromosome analysis of cultured peripheral blood lymphocytes revealed an additional ring chromosome in 13% of the metaphases. Both parents had a normal karyotype, demonstrating the de novo origin of this ring chromosome. FISH analysis using whole chromosome paints showed that the additional chromosomal material was derived from chromosome 18. Chromosome analysis of cultured fibroblasts revealed only one cell with the supernumerary ring chromosome in the 400 analyzed. To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. The array results indicated a 5 Mb gain of the pericentromeric region of chromosome 18q10-q11.2. FISH analysis using BAC-probes located in the region indicated the presence of 6 signals on the r(18) chromosome. In addition, microsatellite analysis demonstrated that the unique supernumerary ring chromosome was paternally derived and both normal copies showed biparental disomy. Conclusions. We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11
J.e.m.m. De ,klein - One of the best experts on this subject based on the ideXlab platform.
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Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
'Springer Science and Business Media LLC', 2010Co-Authors: Veken, L.t. Van Der, Dieleman M.m.j., Douben H., Brug, J.c. Van De, Graaf R. Van De, Hoogeboom A.j.m., Poddighe P.j., J.e.m.m. De ,kleinAbstract:Background. Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. Results. We report a 24 years old male patient with lower spinal anomalies, hypospadia, bifid scrotum, Cryptorchism, anal atresia, kidney stones, urethra anomalies, radial dysplasia, and a hypoplastic thumb. Some of the anomalies overlap with the VACTERL association. Chromosome analysis of cultured peripheral blood lymphocytes revealed an additional ring chromosome in 13% of the metaphases. Both parents had a normal karyotype, demonstrating the de novo origin of this ring chromosome. FISH analysis using whole chromosome paints showed that the additional chromosomal material was derived from chromosome 18. Chromosome analysis of cultured fibroblasts revealed only one cell with the supernumerary ring chromosome in the 400 analyzed. To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. The array results indicated a 5 Mb gain of the pericentromeric region of chromosome 18q10-q11.2. FISH analysis using BAC-probes located in the region indicated the presence of 6 signals on the r(18) chromosome. In addition, microsatellite analysis demonstrated that the unique supernumerary ring chromosome was paternally derived and both normal copies showed biparental disomy. Conclusions. We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11
Malheiros E.b. - One of the best experts on this subject based on the ideXlab platform.
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Criptorquismo em eqüinos: aspectos clínico-cirúrgicos e determinação da testosterona sérica
Universidade Federal de Minas Gerais (UFMG) Escola de Veterinária, 2004Co-Authors: Cattelan J.w., Macoris D.g., Barnabé P.a., Urbinati, Elisabeth Criscuolo, Malheiros E.b.Abstract:Alguns aspectos clínico-cirúrgicos do criptorquismo foram investigados em 42 eqüinos. A freqüência da afecção foi elevada em cavalos Mangalarga, Quarto de Milha e sem raça definida que, em conjunto, totalizaram 73,8% dos casos. O criptorquismo abdominal (64,3%) predominou sobre o inguinal (35,7%). A retenção unilateral ocorreu na maioria dos casos (95,2%), com prevalência do criptorquismo abdominal unilateral esquerdo (45,2%). Também foi determinada a concentração da testosterona sérica em seis garanhões normais (grupo I) em plena atividade sexual (grupo-controle) e em 10 criptórquios (grupos II e III, respectivamente, cinco abdominais e cinco inguinais). A dosagem da testosterona sérica não revelou diferença (P> 0,05) entre os três grupos. Os achados indicam que a produção desse hormônio permanece inalterada no criptórquio, justificando seu comportamento sexual, semelhante ao do garanhão normal.Some clinical and surgical aspects of the Cryptorchism were investigated in 42 horses. Cryptorchism had a high frequency in Mangalarga, Quarter Horse, and mixed breed, 73.8% of the cases. Abdominal Cryptorchism was more prevalent than the inguinal, 64.3% and 35.7%, respectively. The unilateral retention occurred in most cases (95.2%), with a high frequency of left abdominal Cryptorchism (45.2%). The serum testosterone levels were also determined in six normal stallions (control group) and 10 cryptorchid horses (five abdominals and five inguinals). Serum testosterone concentration showed no difference (P> 0.05) among groups. The production of this hormone did not change in the Cryptorchism, therefore, justifying the similar sexual behavior of the cryptorchid horse and normal stallions
松田 公志 - One of the best experts on this subject based on the ideXlab platform.
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The persisting mesonephric duct with contralateral Cryptorchism and ipsilateral renal aplasia: a case report
泌尿器科紀要刊行会, 2008Co-Authors: 井上 貴昭, 六車 光英, 福井 勝也, 地崎 隆介, 日浦 義仁, 木下 秀文, 松田 公志Abstract:30歳男性。患者は不妊症を主訴に近医を受診, 無精子症を指摘され, 著者らの施設へ紹介受診となった。妻には産婦人科的な異常を認めず, 精査の結果, 骨盤内精管欠損による閉塞性無精子症を疑い, 手術が行われた。術中所見では右側の停留精巣および腎無形成を伴った中腎管遺残が確認され, crossed vasovasostomyは困難と判断し, 手術を終了した。その後, 文献的に考察し, 右は停留精巣による精子形成不全, 左は中腎管遺残が不妊症の原因と考え, TESEを行った結果, 正常精子を認めたため, 卵細胞質内精子注入術を施行した。A 30-year-old man with azoospermia underwent an examination for infertility. He had a history of right orchiopexy due to Cryptorchism. Radiological examinations showed an absence of the left kidney and the left seminal vesicle. A testicular biopsy revealed normal spermatogenesis in the left testis, but no spermatogenesis in the right testis. The right vasograph demonstrated obstruction of the vas deferens at the inguinal region. The left vasograph showed that the left vas drained into a cystic lesion, which then drained into the bladder neck. The left ureter was connected to this cystic lesion. The final diagnosis was a persistent mesonephric duct which was open to the bladder neck. The pathogenesis of the persistent mesonephric duct combined with the ectopic opening of the ureter and the vas deferens is discussed. The patient was treated by testicular extraction of the testicular sperm, and intracytoplasmic sperm injection
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Long-term outcome of Cryptorchism after orchiopexy
泌尿器科紀要刊行会, 1992Co-Authors: 奥野 博, 岡本 圭生, 福山 拓夫, 松田 公志, 吉田 修Abstract:1)思春期前に停留精巣固定術を施行した43例(片側39例,両側4例)の長期予後成績を検討した。2)精液検査では片側停留精巣を正常16例,乏精子症8例,無力精子症1例,無精子症1例であった。両側停留精巣は正常3例,無精子症1例であった。3)片側停留精巣の既婚者は8例でうち7例に挙児を認めた。4)片側の停留精巣では,患側より健側の精巣容積の方が精子濃度と関連する傾向を認め,おもに健側の精巣機能が精液所見に関与しているThe long-term outcome of Cryptorchism (undescended testis) was studied in 43 patients who underwent orchidopexy at pre-puberty ages and who were over 15 years of age at the time of this study. The follow-up period after operation was 11 approximately 23 years. Cryptorchism was unilateral in 39 patients and bilateral in 4 patients. The sperm concentration and motility were examined, using a cut-off level of 20 x 10(6)/ml for sperm concentration and 50% for sperm motility. In the unilateral Cryptorchism group, 16 patients (61.5%) had normal semen quality, 8 patients (30.8%) oligozoospermia, 1 (3.8%) asthenozoospermia and 1 (3.8%) azoospermia. In the bilateral Cryptorchism group, 3 patients (75.0%) were normal and 1 (25.0%) had azoospermia. Eight patients with unilateral Cryptorchism were married and 7 of them (87.5%) had children. The sperm concentration had no inverse correlation with the age at operation. In patients with unilateral Cryptorchism, the testicular volume on the healthy side was significantly higher than that on the affected side. The sperm concentration tended to correlate with the testicular volume on the healthy side rather than that on the affected side. These findings suggest that the sperm profiles in patients with unilateral Cryptorchism are chiefly associated with the testicular function on the healthy side