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https://www.readbyqxmd.com/read/28816282/-long-term-follow-up-experience-of-comprehensive-treatment-of-testicular-mixed-germ-cell-tumors
#1
J F Ye, B Wang, L L Ma, L Zhao, G L Wang, K Hong
OBJECTIVE: Testicular mixed germ cell tumor is mixed with embryonal carcinoma, choriocarcinoma, yolk sac tumor, teratoma, seminoma and other two or more components of the testicular tumor, the clinical is relatively rare and high degree of malignancy, this article will summarize its clinical features and optimize its treatment. METHODS: A retrospective analysis of the clinical data of 22 patients with testicular tumor mixed germ cell in Peking University Third Hospital from May 1994 to November 2016 was conducted using a combination of statistical analysis and discussion of the relevant literature...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28807869/a-novel-mutation-in-smoc1-and-variable-phenotypic-expression-in-two-patients-with-waardenburg-anophthalmia-syndrome
#2
Javad Jamshidi, Shokoufeh Abdollahi, Hamid Ghaedi, Elham Alehabib, Abbas Tafakhori, Somayeh Alinaghi, Marjan Chapi, Amir Hossein Johari, Hossein Darvish
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS. The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss in both ears. The second case was a 12-year-old boy with bilateral anophthalmia, camptodactyly in his right hand, oligodactyly in his foot, clubfoot, and cryptorchidism...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28782742/laparoscopic-management-of-m%C3%A3-llerian-duct-remnants-in-the-paediatric-age-evidence-and-outcome-analysis
#3
Maja Raicevic, Amulya Kumar Saxena
BACKGROUND: This study performed a literature analysis to determine outcomes of laparoscopic management in Müllerian duct remnants (MDRs). PATIENTS AND METHODS: Literature was searched for terms 'Müllerian' 'duct' 'remnants' and 'laparoscopy'. Primary end points were age at surgery, laparoscopic technique, intraoperative complications and postoperative morbidity. RESULTS: The search revealed 10 articles (2003-2014) and included 23 patients with mean age of 1...
August 1, 2017: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/28780519/analysis-of-genetic-and-clinical-characteristics-of-a-chinese-kallmann-syndrome-cohort-with-anos1-mutations
#4
Min Nie, Hongli Xu, Rongrong Chen, Jiangfeng Mao, Xi Wang, Shuyu Xiong, Junjie Zheng, Bingqing Yu, Mingxuan Cui, Wanlu Ma, Qibing Huang, Hongbing Zhang, Xueyan Wu
OBJECTIVE: To analyze ANOS1 gene mutations in a large Chinese Kallmann syndrome (KS) cohort and to characterize the clinical presentation of the disease in patients with ANOS1 mutations. PATIENTS AND METHODS: Chinese patients with KS, including 187 sporadic and 23 pedigree cases were recruited. Patients' ANOS1 gene sequences were analyzed by direct sequencing of PCR-amplified products. In silico analysis was used to assess functional relevance of newly identified missense mutations...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28774369/-unusual-facies-with-delayed-development-and-multiple-malformations-in-a-14-month-old-boy
#5
Tong Lu, Yi Wang
Schinzel-Giedion syndrome is a rare autosomal dominant genetic disease and has the clinical features of severe delayed development, unusual facies, and multiple congenital malformations. In this case report, a 14-month-old boy had the clinical manifestations of delayed development, unusual facies (prominent forehead, midface retraction, hypertelorism, low-set ears, upturned nose, and micrognathia), and multiple congenital malformations (including cerebral dysplasia, dislocation of the hip joint, and cryptorchidism)...
August 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28771045/expression-patterns-and-changes-of-the-lcn2-gene-in-the-testes-of-induced-cryptorchidism-and-busulfan-treated-mice
#6
Zhenlong Kang, Na Qiao, Zhigang Tan, Zhaoxin Tang, Ying Li
Lipocalin-2 (LCN2) was known to play various roles in different type cells; however, little was known about the effect of LCN2 in male fertility. In this study, we aimed to explore the expression pattern of LCN2 with increasing age in mice, and to obtain insight into the role of LCN2 in mice testes by induced cryptorchidism and busulfan-treated infertility. In situ hybridization showed that LCN2 was localized primarily in Leydig cells, but was absent in Sertoli and germ cells. Its expression in testes exhibited an age-related increase from day 1 to 8 months, then reduced by the twelth month...
August 3, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#7
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28767923/surgical-correction-of-ectopic-penis-and-scrotum-associated-with-bilateral-orchidopexy
#8
Daniel Santos Rocha Sobral, Helder Damásio da Silva, Eulálio Damázio
Ectopic penis is usually associated with penoscrotal transposition, and it is rarely observed in isolation. We report a surgical approach for an extremely rare case. A 10-year-old male patient with bilateral cryptorchidism and ectopic penis and scrotum in perineal area, with no penoscrotal transposition, representing an association not yet described in literature. A previous orchiopexy failed due to ectopic scrotum. By means of an inverted Y incision, the penis was mobilized and a perineal skin flap in form of a testicular sac was prepared...
April 2017: Einstein
https://www.readbyqxmd.com/read/28764266/mri-findings-of-persistent-mullerian-duct-syndrome-a-rare-case-report
#9
Rambir Singh, Sunil D Kumar, Nidhi Aggarwal
Embryologically mullerian duct derivatives lead to formation of female genitalia and wolffian duct derivatives to male genitalia. Presence of mullerian duct derivatives in a chromosomally normal male (XY) leads to male pseudohermaphroditism and is referred to as Persistent Mullerian Duct Syndrome (PMDS). A young male patient with bilateral cryptorchidism presented to our hospital who was subsequently imaged. There are many case reports of persistent mullerian duct syndrome but they focus mainly on surgical aspects...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28761584/canadian-urological-association-pediatric-urologists-of-canada-cua-puc-guideline-for-the-diagnosis-management-and-followup-of-cryptorchidism
#10
Luis H Braga, Armando J Lorenzo, Rodrigo L P Romao
No abstract text is available yet for this article.
July 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28752067/two-stage-urethroplasty-with-buccal-mucosa-for-penoscrotal-hypospadias-reconstruction-in-a-male-with-a-46-xx-karyotype
#11
Pieter D'hulst, Jochen Darras, Steven Joniau, Pieter Mattelaer, Linsey Winne, Diederik Ponette
We present a case regarding a 32-year old African male with penoscrotal hypospadias, left cryptorchidism and a left inguinal hernia. There were moderate masculinization characteristics. He underwent a Lichtenstein hernia repair with perioperative biopsies of the left inguinal testis and epididymis. Microscopic examination showed a Sertoli-only left testis with Leydig-cell hyperplasia and the left epididymis consisted of ovarian tissue with corpora albicantia and maturing follicles. Endocrinological evaluation showed a sex-determining region Y (SRY) negative 46,XX karyotype...
September 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28742629/noonan-syndrome-an-underestimated-cause-of-severe-to-profound-sensorineural-hearing-impairment-which-clues-to-suspect-the-diagnosis
#12
Alban Ziegler, Natalie Loundon, Laurence Jonard, Hélène Cavé, Geneviève Baujat, Souad Gherbi, Vincent Couloigner, Sandrine Marlin
OBJECTIVE: To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. STUDY DESIGN: New clinical cases and review. SETTING: Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. PATIENTS: Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. INTERVENTIONS: Diagnostic and review of the literature...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28742509/persistent-m%C3%A3-llerian-duct-syndrome-a-novel-mutation-in-the-%C3%AE-nti-m%C3%A3-llerian-%C3%AE-ormone-gene
#13
Ayça Altincik, Fahri Karaca, Hüseyin Onay
BACKGROUND AND OBJECTIVE: Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT: A 4-month-old male presented with bilateral cryptorchidism and normal external genitalia. The laboratory examination revealed normal gonadotropin levels for his age (FSH: 0...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28729185/-testicular-tumours-in-children-indications-for-testis-sparing-surgery
#14
Martha Isabel Romo Muñoz, Vanesa Núñez Cerezo, Mariela Dore Reyes, Alejandra Vilanova Sánchez, Pilar González-Peramato, Pedro López Pereira, María José Martínez Urrutia
INTRODUCTION AND OBJECTIVES: Although standard surgical treatment of a testicular tumour is orchiectomy, use can be made of testis-sparing surgery in selected cases, based on tumour markers, tumour size, and histopathological findings. Our objective is to become acquainted with the indications of testis-sparing surgery as a treatment for the incidental finding of a palpable and non-palpable testicular mass. MATERIAL AND METHODS: A retrospective study was conducted on 22 patients younger than 18 years diagnosed with a testicular tumour between 2000 and 2014...
July 17, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28708534/the-expressions-in-oxytocin-and-sex-steroid-receptors-in-the-reproductive-tissues-of-normal-and-unilateral-cryptorchid-dogs
#15
N Prapaiwan, S Manee-In, W Moonarmart, S Srisuwatanasagul
In males, oxytocin is involved with various physiological functions, such as reproductive tract contractility and testicular steroidogenesis. Due to the relationship between sex steroid hormones, oxytocin receptor (OTR) expression and cryptorchidism pathogenesis, this study aimed to investigate the mRNA expression and the localization of OTR in relation to sex steroid receptors in the male reproductive tract of both normal and unilateral abdominal cryptorchid dogs using quantitative PCR and immunohistochemistry...
June 5, 2017: Theriogenology
https://www.readbyqxmd.com/read/28700985/genes-involved-in-long-term-memory-are-expressed-in-testis-of-cryptorchid-boys-and-respond-to-gnrha-treatment
#16
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler
It has been known for many years that boys with unilateral or bilateral undescended testis (cryptorchidism) tend to have a low IQ, and those who belong to the high infertility risk (HIR) group perform less well at school than low infertility risk (LIR) patients. However, the molecular biological processes underlying this phenomenon are not understood. In this study, we report the outcome of testicular RNA profiling for genes involved in long-term memory formation. We analyzed the histology and the transcriptome of testicular biopsies from bilateral HIR cryptorchid boys, comparing those who received GnRHa treatment for 6 months after the first surgery with those who did not receive GnRHa before the second surgery...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28699204/postnatal-risk-factors-for-testicular-cancer-the-epsam-case-control-study
#17
Giovenale Moirano, Daniela Zugna, Chiara Grasso, Dario Mirabelli, Patrizia Lista, Libero Ciuffreda, Nereo Segnan, Franco Merletti, Lorenzo Richiardi
Testicular cancer is considered to originate from an impaired differentiation of fetal germ cells, but puberty could represent another time window of susceptibility. Our study aimed at investigating the association between environmental exposures acting during puberty/adolescence (13-19 years of age) and the risk of testicular cancer. We used data of the EPSAM study, a case-control study on germ-cell testicular cancer conducted in the province of Turin, Italy, involving cases diagnosed between 1997 and 2008...
July 12, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28698791/first-reported-case-of-paratesticular-seminoma-in-a-postpubertal-cryptorchid-testis
#18
Imad Elhajjar, Khalid Sayyid, Anas Mugharbil, Houssam Khodor Abtar
Cryptorchidism is a very common anomaly, affecting 2-4% of male infants and is more common in premature infants. The long-term outcome despite orchidopexy still remains problematic and controversial with a risk of developing cancer 5-10 times greater than normal. Paratesticular tumors are mostly benign and very rare in children however malignant paratesticular tumors do arise, the most common being rhabdomyosarcoma. Primary paratesticular seminoma is extremely rare by itself and in most cases is associated with foci of seminoma within the testis...
June 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28687524/pierpont-syndrome-associated-with-the-p-tyr446cys-missense-mutation-in-tbl1xr1
#19
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, Jude Abadie, Joseph Shieh, Jessica Van Ziffle, Mark Kvale, Hane Lee, Pui-Yan Kwok, Neil Risch, Marta Sabbadini
We present a 7-year old male with severe delays, hypotonia and dysmorphic features who had striking, deep palmar and plantar creases and pillowing of the soft tissues of the palms and soles. His facial features included a high anterior hairline, small eyes with narrowed palpebral fissures, a bulbous nasal tip with a short columella, and a large mouth with a thin upper vermilion, and small chin. He had a submucous cleft palate, bilateral cryptorchidism and hydronephrosis. Cranial imaging demonstrated an Arnold Chiari malformation that was also present in his maternal uncle by report...
July 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28654092/risk-factors-for-cryptorchidism
#20
REVIEW
Jason K Gurney, Katherine A McGlynn, James Stanley, Tony Merriman, Virginia Signal, Caroline Shaw, Richard Edwards, Lorenzo Richiardi, John Hutson, Diana Sarfati
Undescended testis - known as cryptorchidism - is one of the most common congenital abnormalities observed in boys, and is one of the few known risk factors for testicular cancer. The key factors that contribute to the occurrence of cryptorchidism remain elusive. Testicular descent is thought to occur during two hormonally-controlled phases in fetal development - between 8-15 weeks (the first phase of decent) and 25-35 weeks gestation (the second phase of descent); the failure of a testis to descend permanently is probably caused by disruptions to one or both of these phases, but the causes and mechanisms of such disruptions are still unclear...
June 27, 2017: Nature Reviews. Urology
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