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Sample records for renal agenesis cryptorchidism

  1. Complete dorsal pancreatic agenesis and unilateral renal agenesis.

    Science.gov (United States)

    Moreira, Adriana; Carvalho, André; Portugal, Inês; Jesus, José Miguel

    2018-02-01

    Dorsal pancreatic agenesis is a very rare congenital anomaly. Unilateral renal agenesis, on the other hand, is a relatively common congenital anomaly, although its etiology is not fully understood. Renal and pancreatic embryologic development appears to be nonrelated. We report a case of a 34-year-old man who was referred to our hospital for evaluation of cholestasis and microalbuminuria. Ultrasound and magnetic resonance imaging examinations showed empty right renal fossa and absence of the pancreatic neck, body, and tail. Our case report is the second case of a dorsal pancreatic agenesis and unilateral renal agenesis in a young male patient.

  2. Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (=aplasia)

    International Nuclear Information System (INIS)

    Kroepelin, T.; Ziupa, J.; Wimmer, B.

    1983-01-01

    Three adult patients with unilateral renal agenesis/total dysplasia (= aplasia) and with an early chronic renal failure are presented. One patient had renal agenesis without ureter bud and ureteric ostium on one side, and reflux pyelonephritis on the other; one had small compact total renal dysplasia (= aplasia) on one side, while chronic uric acid nephropathy (chronic renal disease as a cause of gout) was diagnosed on the other; the third patient had a total large multicystic dysplasia on one side, and on the other a segmental large multicystic dysplasia. Radiological steps and radiodiagnostic criteria are discussed and the combination of urogenital and extraurogenital anomalies is referred to. (orig.)

  3. Bicornuate unicollis uterus with left renal agenesis | Adeyinka ...

    African Journals Online (AJOL)

    This is a case report of a 30 year old lady with 8 years history of 2 Infertility. Radiological findings by Hystero-salpingography (HSG) revealed a Bicornuate Unicolis uterus. This was further confirmed by Ultrasound, which also demonstrated a Left Renal agenesis inclusive. Radiological features, clinical presentation and ...

  4. Waardenburg syndrome with familial unilateral renal agenesis: a new syndrome variant?

    Science.gov (United States)

    Webb, Katie M; Smith, Alisha J; Dansby, Linda M; Diskin, Charles J

    2015-06-01

    A 64-year-old man with Waardenburg syndrome presented with anuria and was subsequently discovered by renal ultrasound to have unilateral renal agenesis. The patient is one of three generations with incidental finding of renal agenesis also marked by the presence of Waardenburg syndrome. To our knowledge, there has been no mention elsewhere in the scientific literature of a variant of Waardenburg syndrome with associated renal agenesis. © 2014 The Authors. Therapeutic Apheresis and Dialysis © 2014 International Society for Apheresis.

  5. Bilateral multicystic renal dysplasia with potter sequence: A case with penile agenesis

    International Nuclear Information System (INIS)

    Dursun, Ahmet; Ermis, Bahri; Bahadir, Burak; Seckiner, Ilker

    2006-01-01

    Hereditary renal adysplasia (HRA) is rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low set ears and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thin skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association and Coloboma, heart anomaly, choanal atresia, retardation, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis. (author)

  6. Unilateral renal agenesis associated with ovarian cysts in a 19 year ...

    African Journals Online (AJOL)

    MJP

    2015-10-28

    379. doi: http://dx.doi.org/10.14194/ijmbr.4.3.2. How to cite this article: Anyabolu E.N,. Chukwuonye I.I, Anyabolu A.E, Enwere O.O.. Unilateral renal agenesis associated with ovarian cysts in a 19 year old woman in Orlu,.

  7. Evidence-based, ethically justified counseling for fetal bilateral renal agenesis

    Science.gov (United States)

    Thomas, Alana N.; McCullough, Laurence B.; Chervenak, Frank A.; Placencia, Frank X.

    2017-01-01

    Background Not much data are available on the natural history of bilateral renal agenesis, as the medical community does not typically offer aggressive obstetric or neonatal care asbilateral renal agenesis has been accepted as a lethal condition. Aim To provide an evidence-based, ethically justified approach to counseling pregnant women about the obstetric management of bilateral renal agenesis. Study design A systematic literature search was performed using multiple databases. We deploy an ethical analysis of the results of the literature search on the basis of the professional responsibility model of obstetric ethics. Results Eighteen articles met the inclusion criteria for review. With the exception of a single case study using serial amnioinfusion, there has been no other case of survival following dialysis and transplantation documented. Liveborn babies die during the neonatal period. Counseling pregnant women about management of pregnancies complicated by bilateral renal agenesis should be guided by beneficence-based judgment informed by evidence about outcomes. Conclusions Based on the ethical analysis of the results from this review, without experimental obstetric intervention, neonatal mortality rates will continue to be 100%. Serial amnioinfusion therefore should not be offered as treatment, but only as approved innovation or research. PMID:28222038

  8. Didelphic uterus with imperforate unilateral vagina and ipsilateral renal agenesis: Magnetic resonance

    International Nuclear Information System (INIS)

    Rodrigo, R.M.; Saez, F.; Astigarraga, E.; Rodriguez, O.

    1993-01-01

    We present two cases of didelphic uterus with the clinical appearance of a pelvic mass produced by the hematometra-hematocolpos retained by an imperforate unilateral hemivagina. In both cases, this anomaly was accompanied by ipsilateral renal agenesis. We basically review the diagnosis of this disorder, focusing on magnetic resonance as the technique of choice. (Author) 10 refs

  9. Double uterus with obstructed hemivagina and ipsilateral renal agenesis: pelvic anatomic variants in 87 cases.

    Science.gov (United States)

    Fedele, L; Motta, F; Frontino, G; Restelli, E; Bianchi, S

    2013-06-01

    What are the anatomic variants (and their frequencies) of double uterus, obstructed hemivagina and ipsilateral renal agenesis? Most cases examined (72.4%) were of the classic anatomic variant of the Herlyn-Werner-Wunderlich syndrome (with didelphys uterus, obstructed hemivagina and ipsilateral renal agenesis) but the 27.6% of cases are of a rare variant of the syndrome (with uterus septum or cervical agenesis), showing relevant clinical and surgical implications. The extreme variability of anatomic structures involved in this syndrome (both uterus, cervico-vaginal and renal anomalies) is well known, even if a complete and uniform analysis of all its heterogeneous presentations in a large series is lacking. This is a retrospective study with 87 patients referred to our third level referral center between 1981 and 2011. We analyzed the laparoscopic and chart records of 87 women, who referred to our institute with double uterus, unilateral cervico-vaginal obstruction and ipsilateral renal anomalies. Sixty-three of 87 patients had the more classic variant of didelphys uterus with obstructed hemivagina; 10/87 patients had septate bicollis uterus with obstructed hemivagina; 9/87 patients had bicornuate bicollis uterus with obstructed hemivagina; 4/87 patients had didelphys uterus with unilateral cervical atresia; 1/87 patients had bicornuate uterus with one septate cervix and unilateral obstructed hemivagina. This is a retrospective study with a long enrolling period (30 years). New insights in the anatomic variants of this rare syndrome with their relevant surgical implications.

  10. Laparoscopic Colectomy for a Patient with Congenital Renal Agenesis

    African Journals Online (AJOL)

    The right colon was mobilized by lateral‑to‑medial extension of a retroperitoneal dissection between the fusion fascia and the anterior renal fascia. The right testicular vessels were preserved without injury to the anterior renal fascia; however, the right ureter could not be detected. The operation was performed safely. Thus ...

  11. A case of Klippel-Feil syndrome with renal agenesis

    Directory of Open Access Journals (Sweden)

    Mehmet Karakoç

    2010-05-01

    Full Text Available Klippel-Feil syndrome (KFS is is a rare syndrome that characterized by fusion of at least two congenital vertebrae in the cervical region. The most common characteristics of KFS are short neck, low nuchal hair line and restricted joint mobility of the cervical region.Addititonal features are scoliosis, sipina bifida, cervical rib, Sprengel deformity and facial asymmetry, and renal and cardiac anomalies. In this report a 10 years old girl was admitted with complaints of short stature and abnormal neck curvature. Physical examination of the patient revealed short neck, low nuchal hair line, and Sprengel’s deformity, height hard palate, facial asymmetry and torticollis. Cervical paravertebral muscle spasm was found on the left as (+ / right (+ +. Muscle tone, muscle strength, reflexes and sensory examination were found to be normal. Radiological examination of the C4-5 and C6-7 cervical region revealed the loss of inteverebral disc spaces and block vertebra. Also there was hemivertebra anomaly and aplasia of odontoid process. Abdominal and pelvic ultrasound examination revelaed absence of right kidney. Echocardiographical examination gave no abnormality. The case was presented in order to draw attention to KFS with renal agenesia in the light of current literature.

  12. Fetal bilateral renal agenesis, phocomelia, and single umbilical artery associated with cocaine abuse in early pregnancy.

    Science.gov (United States)

    Kashiwagi, Maki; Chaoui, Rabih; Stallmach, Thomas; Hürlimann, Sandra; Lauper, Urs; Hebisch, Gundula

    2003-11-01

    Maternal cocaine abuse in pregnancy is associated with complications such as intrauterine growth retardation, abruptio placentae, and preterm delivery. We report what is, to our knowledge, the first published observation of fetal bilateral renal agenesis associated with a vascular disruption syndrome comprising upper limb reduction defect and a single umbilical artery following maternal cocaine abuse in early pregnancy. This constellation in a fetus aborted at 18 weeks extends the spectrum of complications possibly associated with cocaine abuse in pregnancy. Copyright 2003 Wiley-Liss, Inc.

  13. Cryptophthalmos and Bilateral Renal Agenesis with Cleft Lip and Palate: Fraser Syndrome: Case Report

    Directory of Open Access Journals (Sweden)

    Emre Pabuçcu

    2012-12-01

    Full Text Available Fraser syndrome is a rare autosomal recessive disorder consisting of multiple anomalies including variable expression of cryptophthalmos, syndactyly, abnormal genitalia, malformations of the nose, ear and larynx, renal agenesis, oro-facial clefts, skeletal defects, umbilical hernia and mental retardation. Antenatally detected multiple congenital fetal anomalies during 22nd week of gestation is reported in this paper. Fraser Syndrome was diagnosed according to major and minor criteria. Early antenatal detection is mandatory and clinician should be awere of the high recurrence rates of this syndrome among siblings threatening subsequent pregnancies and should inform affected families.

  14. Bilateral renal agenesis, a severe anomaly in a premature infant with VACTERL association: A case report

    Directory of Open Access Journals (Sweden)

    Erol Basuguy

    2017-11-01

    Full Text Available We report on a preterm male (birth weight 1,100 g with bilateral renal agenesis, a lethal malformation. Additionally, the child suffered from an atrial septal defect, ventricular septal defect, right aortic arch anomaly, a high type of anal atresia, vertebral anomalies, limbs defects (VACTERL association. The infant during first day of life was treated with an emergency sigmoid ostomy and peritoneal dialysis because of increasing abdominal dilatation and high urea and creatinine levels in blood. Important congenital anomalies associated with VACTERL association and prematurity are very serious causes of mortality in the early period

  15. Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia

    International Nuclear Information System (INIS)

    Shimada, Kenji; Matsumoto, Fumi; Matsui, Futosi; Obara, Takasi

    2010-01-01

    The objective of this study was to review our experience with female children who have unilateral renal agenesis or renal dysplasia associated with cystic lesions in the reproductive system. Between 1991 and 2007, we treated 26 patients with unilateral renal agenesis or renal dysplasia associated with pelvic, retrovesical or interlabial cystic lesions. In 16 patients, an abnormality either of the kidney or a cystic lesion was detected during the perinatal period. Another 10 patients presented clinical symptoms, including urinary incontinence in five, urinary tract infection in one, and vaginal discharge in four. Based on clinical features and imaging findings, the patients were divided into four groups: those with Gartner's duct cyst (Group 1, n=9); those with uterovaginal duplication with obstructed hemivagina (Herlyn-Werner-Wunderlich syndrome [HWW]; Group 2, n=3); those with both Gartner's duct cyst and HWW syndrome (Group 3, n=3); and those without definitive diagnosis (Group 4, n=11). In Group 1, leakage completely stopped after nephrectomy in three patients, whereas six patients continued to be incontinent despite the removal of dysgenetic kidneys. In Group 2, after the excision of a vaginal septum, no patient presented urinary incontinence. In patients in Group 3, both the mesonephric remnant and mullerian structures were confirmed on imaging or through endoscopy. Because of the high coincidence of genital and renal anomalies, it is recommended that genital systems in female patients with renal anomalies associated with cystic lesions behind the lower urinary tract be investigated. The best imaging modality to use remains under scrutiny. It is important to follow the patients until the age of puberty. The importance of a long-term follow-up in these patients needs to be emphasized. (author)

  16. Complex malformations of the urogenital tract in a female dog: Gartner duct cyst, ipsilateral renal agenesis, and ipsilateral hydrometra.

    Science.gov (United States)

    Fujita, Atsushi; Tsuboi, Masaya; Uchida, Kazuyuki; Nishimura, Ryohei

    2016-05-01

    A 10-month-old female toy poodle was referred to the University of Tokyo Veterinary Medical Center with a urogenital anomaly found during sterilization. An exploratory laparotomy revealed a cyst adhering to the cervix and a unilateral renal agenesis. Histopathology and immunohistochemical analysis of the cyst was consistent with remnants of the Wolffian duct or a Gartner duct cyst. This is a rare case of a canine Gartner duct cyst with renal agenesis and uterine anomaly. We discuss the similarity of this case to that of humans and introduce a classification in the literature for these complex urogenital malformations for further clinical research into the precise diagnosis and appropriate surgical planning.

  17. Herlyn-Werner-Wunderlich Syndrome Consisting of Uterine Didelphys, Obstructed Hemivagina and Ipsilateral Renal Agenesis in a Newborn

    Directory of Open Access Journals (Sweden)

    Tsung-Hsin Wu

    2012-02-01

    Full Text Available Herlyn-Werner-Wunderlich (HWW syndrome is a rare variant of Müllerian duct anomalies consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Patients with HWW syndrome are usually asymptomatic until menarche, when they present with acute lower abdominal pain. Here we report a case of a female newborn with right renal agenesis diagnosed during the pregnancy. The patient presented with a protruding mass over the vaginal introitus that was associated with an obstructed hemivagina and uterine didelphys.

  18. Uterus bicornis bicollis, imperforate hemivagina and ipsilateral renal agenesis: case report and literature review.

    Science.gov (United States)

    DaCosta, V; Christie, L; Wynter, S; Harriott, J; Frederick, J

    2009-09-01

    We present a case of a patient with Uterus bicornis bicollis, imperforate hemivagina and ipsilateral renal agenesis. This group of congenital malformations is often asymptomatic until puberty, when it presents as cyclic dysmenorrhoea, leucorrhoea or a pelvic mass. Magnetic resonance imaging is becoming the preferred modality for delineation of uterine malformations. When congenital abnormalities of the reproductive tract are encountered, a search should also be made for renal anomalies. Patients with Uterus bicornis bicollis and unilateral imperforate vagina are often seen with pain severe enough to mimic an acute abdomen. It is important to keep this unusual congenital malformation in mind in the differential diagnosis of vaginal discharge, pelvic mass and/or abdominopelvic pain in young women so as to avoid inappropriate surgical procedures.

  19.  Uterus Didelphys with Obstructed Right Hemivagina, Ipsilateral Renal Agenesis and Right Pyocolpos: A Case Report

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    Hansa Dhar

    2011-11-01

    Full Text Available  Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA Syndrome is a rare congenital anomaly of the female genital tract. Uterus didelphys occurs when the midline fusion of the mullerian ducts is arrested, either completely or incompletely. Women with didelphic uterus may be asymptomatic and unaware of having a double uterus. They may present with complaints of dysmenorrhoea and dyspareunia. A 25 year old woman attending the infertility clinic at Nizwa regional referral hospital presented with history of dysmenorrhoea and foul vaginal discharge with right cystic pelvic mass. She was diagnosed as a case of double uterus with obstructed right hemivagina and right pyocolpos with ipsilateral renal agenesis after routine ultrasonography in the clinic followed by MRI. Excision of the right vaginal septum with drainage of 200 ml of purulent discharge was performed. She was relieved of her symptoms and conceived promptly after the surgical excision of the partial vaginal septum.

  20. Spontaneous renal hemorrhage secondary to choriocarcinoma in a man with congenital hypospadias and cryptorchidism: a case report and literature review.

    Science.gov (United States)

    Li, Yi; Chen, Gang; Chen, Han; Wen, Shuang; Xiong, Chao-Yu; Yang, Zi-Yi; Zhu, Yun-Xiao; Jeffreys, Nathan

    2018-05-08

    Choriocarcinoma is a rare malignant germ-cell tumour, most commonly found in adult women. It infrequently presents as spontaneous renal haemorrhage (SRH). Genital malformation and SRH secondary to choriocarcinoma has previously been only reported in females. We present what we believe to be the first case of a male patient with genital malformation (hypospadias and cryptorchidism) and SRH at presentation of choriocarcinoma. A 25-year-old man presented to the department with intense pain in the right flank region and lower back. Initial investigations showed spontaneous renal haemorrhage, for which an emergency partial nephrectomy was performed. Clinical, radiological, and pathological investigations suggested a diagnosis of testicular choriocarcinoma with metastases to the right kidney, both lungs, and brain. Initial treatment was with a chemotherapy regimen of cisplatin, etoposide and bleomycin and whole brain radiotherapy; however, 6 months after diagnosis the patient developed liver metastasis, after which time the BEP protocol was switched to ITP with oral apatinib. Despite best efforts, the liver and lung metastasis continued to grow and a decision was made to discontinue active treatment and provide only palliative care until the patient passed away. Choriocarcinoma is a difficult cancer to diagnose pre-operatively. In male patients with early metastasis, prognosis may be much poorer than in the commoner gestational choriocarcinoma. A multidisciplinary with comprehensive post-surgical intervention is of great importance in the treatment of these patients.

  1. An Unusual Case of Recurrent Pyocolpos Following Midtrimester Miscarriage Revealed as Obstructed Hemivagina with Ipsilateral Renal Agenesis (OHVIRA Syndrome

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    Haldar M

    2014-08-01

    Full Text Available Obstructed hemivagina with ipsilateral renal agenesis (OHVIRA Syndrome is a rare congenital anomaly. It mostly presents with severe dysmenorrhea and a palpable mass due to unilateral hematocolpos. Sometime it presents in unusual way with prolonged vaginal bleeding and profuse vaginal discharge. Here we report case of an 18 years old married female with OHVIRA syndrome presenting late with symptoms of recurrent pyocolpos following dilatation and evacuation for midtrimester miscarriage that was diagnosed on the basis of MRI and managed by vaginal septotomy.

  2. Pulmonary agenesis

    OpenAIRE

    Oyola, Mercedes; Pontificia Universidad Javeriana; Gordillo, Gisel; Pontificia Universidad Javeriana; García, Carlos A.; Pontificia Universidad Javeriana; Torres, David; Pontificia Universidad Javeriana

    2009-01-01

    Pulmonary agenesis is an infrequent pathology which occurs predominantly among females with no lateral preference. We report on the case of a newborn male diagnosed with prenatal diaphragm hernia though at birth seemed more likely either to be a congenital cystic adenomatoid malformation (congenital pulmonary airway malformation) or pulmonary agenesis. The patient died six days after birth and necropsy confirmed pulmonary agenesis. La agenesia pulmonar es una alteración poco frecuente, con...

  3. Does the serum uric acid level have any relation to arterial stiffness or blood pressure in adults with congenital renal agenesis and/or hypoplasia?

    Science.gov (United States)

    Yazici, Raziye; Guney, İbrahim; Altintepe, Lutfullah; Yazici, Mehmet

    2017-01-01

    The relationship between serum uric acid and arterial stiffness or blood pressure is not clear. The serum uric acid level and its association with cardiovascular risk is not well known in patients with reduced renal mass. We aimed to investigate the relation between serum uric acid levels and arterial stiffness and also blood pressure in patients with congenital renal agenesis and/or hypoplasia. In this single center, cross-sectional study, a total of 55 patients (39 (% 70.9) with unilateral small kidney and 16 (%29.1) with renal agenesis) were included. The median age was 35 (21-50) years. The study population was divided into tertiles of serum uric acid (according to 2.40-3.96, 3.97-5.10, and 5.11-9.80 mg/dl cut-off values of serum uric acid levels). Official and 24-h ambulatory non-invasive blood pressures of all patients were measured. The arterial stiffness was assessed by pulse wave velocity (PWV). PWV values were increased from first to third tertile (5.5 ± 0.6, 5.7 ± 0.8, 6.1 ± 0.7, respectively), but this gradual increase between tertiles did not reach significance. Linear regression analyses showed a positive correlation between serum uric acid levels and PWV (β = 0.40, p = 0.010), but no correlation was found between uric acid and daytime systolic blood pressure (β = 0.24, p = 0.345). In congenital renal agenesis/hypoplasia, the serum uric acid level was positively correlated with arterial stiffness, but there was no correlation with blood pressure.

  4. Unsuspected urological anomalies in asymptomatic cryptorchid boys

    International Nuclear Information System (INIS)

    Pappis, C.H.; Argianas, S.A.; Bousgas, D.; Athanasiades, E.; Pendeli Children's Hospital, Athens

    1988-01-01

    In a period of 6 years 144 asymptomatic boys with cryptorchidism, of mean age 7 ± SD 3.5 years, underwent orchiopexy. None of these boys referred to a history of a known urological anomaly, urinary tract infection haematuria, palpable mass in the renal region, bladder extrophy, epispadias, hypospadias or anorectal malformation. On the third day after orchiopexy an intravenous pyelography was done in every boy following testicular protection against irradiation. Ultrasonic investigation was not available at that time. There were minor urological abnormalities in 36 (25%) boys and major ones in 8 (5.5%) boys. A major anomaly is defined as one resulting in significant loss of renal substance (one case of single kidney and three cases of unilateral renal hypoplasia), or requiring surgical correction for conservation of the renal substance (one case of ureterocele, two cases of pelviureteric stenosis and one case of vesicoureteric stenosis with ipsilateral hydronephrosis). The unsuspected major urological abnormalities are usually ipsilateral to the more undescended testis. They may be associated with a hernia and are more frequent in bilateral cryptorchidism. In conclusion we encourage the routine use of IVP, or ultrasonic investigation or dynamic renal scanning (99 mTc -DTPA), if it is possible, in all patients undergoing orchiopexy for the detection of an unsuspected major renal anomaly. (orig.)

  5. CT of tracheal agenesis

    International Nuclear Information System (INIS)

    Strouse, Peter J.; Hernandez, Ramiro J.; Newman, Beverley

    2006-01-01

    Tracheal agenesis is a rare and usually lethal anomaly. In the past, opaque contrast medium was injected via the esophagus to demonstrate the anatomy. To demonstrate the utility of helical and multidetector CT in delineating the aberrant anatomy in newborns with tracheal agenesis. Four newborns with tracheal agenesis were identified from three institutions. Imaging studies and medical records were reviewed. Each child was imaged with chest radiography. One child was imaged on a single-detector helical CT scanner and the other three on multidetector scanners. Helical and multidetector CT with 2D and 3D reconstructions clearly delineated the aberrant tracheobronchial and esophageal anatomy in each infant. Minimum intensity projection reformatted CT images were particularly helpful. One infant each had type I and type II tracheal agenesis. Two infants had type III tracheal agenesis. All four infants died. CT is a useful tool for delineating the aberrant anatomy of newborns with tracheal agenesis and thus helps in making rational clinical decisions. (orig.)

  6. Agenesis of pancreas

    DEFF Research Database (Denmark)

    Voldsgaard, P; Kryger-Baggesen, N; Lisse, I

    1994-01-01

    Complete agenesis of pancreas is a rare and lethal condition. Four cases have previously been reported in combination with other malformations, such as severe intrauterine growth retardation, hyperglycaemia and meconium ileus. We report a case of pancreatic agenesis as a single anomaly. The child...

  7. Lumbosacral agenesis in a cat

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    Gabrielle C Hybki

    2016-01-01

    Full Text Available Case summary Lumbosacral agenesis is a rare congenital condition reported in children. We report a 17-week-old female domestic shorthair cat with lumbosacral agenesis on whole-body radiographs. The cat was euthanized shortly thereafter presentation. A necropsy was not permitted. Relevance and novel information This is the first reported feline case of lumbosacral agenesis.

  8. The pathogenesis of cryptorchidism and splenogonadal fusion

    DEFF Research Database (Denmark)

    Cortes, D; Thorup, J M; Visfeldt, J

    1996-01-01

    : Of the 111 cases, 31% had cryptorchidism and of these 59% were bilaterally cryptorchid; 26% and 65% had right and left intra-abdominal testes, respectively. Of those with continuous splenogonadal fusion, 44% had cryptorchidism. Solely cryptorchid cases with splenogonadal fusion had reported bilateral absence......, the abnormal ligaments are colonized by splenic cells, possibly because of an abnormal proximity to the splenic anlage, with the resulting abnormal ligament persisting as the splenic cord and thus resulting in cryptorchidism. The basic abnormality may be in the connections of the diaphragmatic ligaments...

  9. Two cases of sacral agenesis

    Energy Technology Data Exchange (ETDEWEB)

    Choi, J Y; Bae, Y K; Hahm, C K; Kang, S R [Hanyang University College of Medicine, Seoul (Korea, Republic of)

    1979-06-15

    Sacral agenesis is a central component in the spectrum of anomalies comprising the caudal regression syndrome. Sacral agenesis occurs more frequently in an infant born to mother of diabetes, rubella infection in first trimester than normal mothers. In a patient of sacral agenesis, it is important to recognize the neurologic deficit, neurogenic bladder dysfunction and other congenital anomalies. A case of partial sacral agenesis of 10 years old girl and another case of complete total agenesis associated with multiple anomalies in autopsied newborn are reported.

  10. Two cases of sacral agenesis

    International Nuclear Information System (INIS)

    Choi, J. Y.; Bae, Y. K.; Hahm, C. K.; Kang, S. R.

    1979-01-01

    Sacral agenesis is a central component in the spectrum of anomalies comprising the caudal regression syndrome. Sacral agenesis occurs more frequently in an infant born to mother of diabetes, rubella infection in first trimester than normal mothers. In a patient of sacral agenesis, it is important to recognize the neurologic deficit, neurogenic bladder dysfunction and other congenital anomalies. A case of partial sacral agenesis of 10 years old girl and another case of complete total agenesis associated with multiple anomalies in autopsied newborn are reported.

  11. Cryptorchidism and maternal alcohol consumption during pregnancy

    DEFF Research Database (Denmark)

    Damgaard, Ida N; Jensen, Tina Kold; Petersen, Jørgen H

    2007-01-01

    Prenatal exposure to alcohol can adversely affect the fetus. We investigated the association between maternal alcohol consumption during pregnancy and cryptorchidism (undescended testis) among newborn boys.......Prenatal exposure to alcohol can adversely affect the fetus. We investigated the association between maternal alcohol consumption during pregnancy and cryptorchidism (undescended testis) among newborn boys....

  12. Postmortem MRI of bladder agenesis

    Energy Technology Data Exchange (ETDEWEB)

    Barber, Brendan R. [St George' s Hospital, Radiology Department, London (United Kingdom); Weber, Martin A. [Great Ormond Street Hospital for Children, Department of Histopathology, London (United Kingdom); Bockenhauer, Detlef [Great Ormond Street Hospital for Children, Department of Nephrology, London (United Kingdom); Hiorns, Melanie P.; McHugh, Kieran [Great Ormond Street Hospital for Children, Radiology Department, London (United Kingdom)

    2011-01-15

    We report a 35-week preterm neonate with bladder agenesis and bilateral dysplastic kidneys. A suprapubic catheter was inadvertently inserted into one of the larger inferior cysts of the left dysplastic kidney. A postmortem MRI scan was performed with the findings being confirmed on autopsy. We are unaware of another postmortem MRI study demonstrating bladder agenesis. (orig.)

  13. Postmortem MRI of bladder agenesis

    International Nuclear Information System (INIS)

    Barber, Brendan R.; Weber, Martin A.; Bockenhauer, Detlef; Hiorns, Melanie P.; McHugh, Kieran

    2011-01-01

    We report a 35-week preterm neonate with bladder agenesis and bilateral dysplastic kidneys. A suprapubic catheter was inadvertently inserted into one of the larger inferior cysts of the left dysplastic kidney. A postmortem MRI scan was performed with the findings being confirmed on autopsy. We are unaware of another postmortem MRI study demonstrating bladder agenesis. (orig.)

  14. [A case of lingual agenesis].

    Science.gov (United States)

    Carinci, F; Felisatti, P; Curioni, C

    1996-01-01

    Lingual agenesis is a rare anomaly caused by failed morphogenesis of the lateral lingual swellings during embriogenesis. Most reported cases have been part of oromandibular limb hypogenesis syndrome (OLHS). A case of lingual agenesis associated with micrognathia and alteration of the hands is reported.

  15. Alcohol binge drinking during pregnancy and cryptorchidism

    DEFF Research Database (Denmark)

    Strandberg-Larsen, Katrine; Jensen, Morten Søndergaard; Ramlau-Hansen, Cecilia Høst

    2009-01-01

    estimated by Cox regression. RESULTS: Average weekly alcohol consumption as well as frequency of binge drinking at any time during pregnancy was not associated with risk of cryptorchidism. Binge drinking in gestational weeks 7-15 was associated with a slightly increased risk of cryptorchidism with adjusted......BACKGROUND: Recent studies have suggested gestational weeks 8-14 as a time window of particular importance to the intrauterine development of the male genitalia, and prenatal exposure to alcohol is under suspicion as a risk factor for cryptorchidism. We examined if prenatal exposure to alcohol...... of cryptorchidism were identified and 398 of these were orchiopexy verified. Maternal alcohol consumption including number and timing of binge drinking episodes was assessed in two computer-assisted telephone interviews around gestational weeks 17 and 32. Adjusted hazard ratios (HRs) of cryptorchidism were...

  16. Cryptorchidism and increased risk of neurodevelopmental disorders.

    Science.gov (United States)

    Chen, Jianping; Sørensen, Henrik Toft; Miao, Maohua; Liang, Hong; Ehrenstein, Vera; Wang, Ziliang; Yuan, Wei; Li, Jiong

    2018-01-01

    Male congenital malformations as cryptorchidism may contribute to the development of neurodevelopmental disorders directly or via shared familial genetic and/or environmental factors, but the evidence is sparse. Using population-based health registries, we conducted a cohort study of all liveborn singleton boys in Denmark during 1979-2008. Boys with a diagnosis of cryptorchidism were categorized into the exposed cohort and the other boys into the unexposed comparison cohort. The outcomes were diagnoses of any neurodevelopmental disorders and their subtypes. We used Cox proportional hazards regression to compute hazard ratios (HRs), taking into consideration several potential confounders. Among 884,083 male infants, 27,505 received a diagnosis of cryptorchidism during follow-up. Boys with cryptorchidism were more likely to be diagnosed with intellectual disability (HR = 1.77; 95%confidence interval [CI]:1.59,1.97), autism spectrum disorders (ASD) (HR = 1.24; 95% CI:1.13,1.35), attention-deficit hyperactivity disorder (ADHD) (HR = 1.17; 95% CI: 1.08,1.26), anxiety (HR = 1.09; 95% CI: 1.01,1.17), and other behavioral/emotional disorders (HR = 1.16; 95% CI: 1.08,1.26) compared to boys without cryptorchidism. The observed risks of intellectual disability, ASD, and ADHD were increased further in boys with bilateral cryptorchidism. Except for anxiety, cryptorchid boys had higher risks of neurodevelopmental disorders than their non-cryptorchid full brothers. The observed increased risks were similar among boys who underwent orchiopexy, as well as among those with shorter waiting times for this surgery. Cryptorchidism may be associated with increased risks of intellectual disability, ASD, ADHD, and other behavioral/emotional disorders. Cryptorchidism and neurodevelopmental disorders may have shared genetic or in-utero/early postnatal risk factors, which need to be further investigated. Copyright © 2017. Published by Elsevier Ltd.

  17. Age at cryptorchidism diagnosis and orchiopexy in Denmark

    DEFF Research Database (Denmark)

    Jensen, Morten Søndergaard; Olsen, Lars Henning; Thulstrup, Ane Marie

    2011-01-01

    Early treatment for cryptorchidism may be necessary to preserve fertility. International guidelines now recommend that congenital cryptorchidism be treated with orchiopexy before age 1 year. Acquired cryptorchidism should be treated at presentation. To our knowledge the rate of adherence to these......Early treatment for cryptorchidism may be necessary to preserve fertility. International guidelines now recommend that congenital cryptorchidism be treated with orchiopexy before age 1 year. Acquired cryptorchidism should be treated at presentation. To our knowledge the rate of adherence...... to these guidelines in recent years is unknown. Thus, we present data on age at cryptorchidism diagnosis and orchiopexy in recent Danish birth cohorts....

  18. Cryptorchidism

    DEFF Research Database (Denmark)

    Cortes, D; Thorup, J M; Visfeldt, J

    2001-01-01

    , and two in boys with known abnormal karyotype. Risk of neoplasia was 5% (7/150) in patients with intra-abdominal testis, abnormal external genitalia or diagnosed abnormal karyotype, versus 0% (0/1,185) in patients without these characteristics (FE, p 00005). CONCLUSION: We recommend surgery...... were now adults, and apperance of testicular neoplasia in all biopsies. RESULTS: Lack of germ cells appeared from 18 months. The frequency increased with increasing age. It appeared in 30% (61/202) bilateral, and 18% (88/496) unilateral cases. In men who had undergone bilateral or unilateral orchiopexy......, respectively, there was normal sperm count in 19% (14/75) and 83% (54/65), and infertility was suspected in 56% (42/75) and 8% (5/65) (FE, p 00005, p 00005), respectively. The lowest, the mean, and the highest age-matched spermatogonia count per tubule at orchiopexy was associated with sperm count...

  19. Pulmonary agenesis: two cases reported

    Directory of Open Access Journals (Sweden)

    Denis Yaraví Solano-Vázquez

    2014-11-01

    Full Text Available Background: Pulmonary agenesis is a rare anomaly (1 in 15 000 live births which consists in a total absence or severe hypoplasia of one or both lungs. The clinical spectrum of the unilateral agenesis could vary from early and severe respiratory distress, recurrent pneumonia to being an incidental finding. The prognosis is based on the presence of associated congenital abnormalities. Material and methods: We present two cases of unilateral pulmonary agenesis in patients at Tlaxcala’s Children Hospital during 2012. Results: Report details the case of a one-month old boy with left pulmonary agenesis and interatrial communication and mild pulmonary arterial hypertension. He had two resolved pneumonia incidents. The other case was a one-month old girl with right pulmonary agenesis, associated to multiple heart malformations who evolved to respiratory failure, heart failure and death.Conclusions: Pulmonary agenesis is a rare anomaly. Its outcome and prognosis varies with the hemodynamics related to its location and associated malformations.

  20. Congenital seminal vesicle cyst accompanying with ipsilateral renal agenesis in an adolescent patient: A pediatric radiologist approach to Zinner’s syndrome

    Directory of Open Access Journals (Sweden)

    Mehmet Burak Özkan

    2015-12-01

    Full Text Available A fifteen-year-old boy who had complaints of left sided pelvic pain with known ipsilateral left renal agenesia was referred to pediatric radiology department. Incidentally, his sonography examination revealed a dilated tubular structure located in the retro-vesicular region from cephalic to prostate. Contrast enhanced pelvic MRI showed a huge seminal vesicle cyst which is over 6 cm without a mass effect near the aspect border of the prostate and bladder. The patient was diagnosed with Zinner syndrome. The patient doesn’t have new complaint with no definite increase in the diameter of the cyst. In this case presentation we are discussing the Zinner syndrome’s imaging findings from a pediatric radiologist approach with a brief review of the literature.

  1. Gallbladder Agenesis with Refractory Choledocholithiasis.

    Science.gov (United States)

    Tjaden, Jamie; Patel, Kevin; Aadam, Aziz

    2015-01-01

    Congenital agenesis of the gallbladder is a rare anomaly which is usually asymptomatic and found incidentally. In some cases, however, patients are symptomatic. Common symptoms include right upper quadrant abdominal pain, nausea, and vomiting. Jaundice is present in some symptomatic cases and is due to associated choledocholithiasis (Fiaschetti et al. 2009). In this case, a 63-year-old female presents with jaundice and episodic right upper quadrant abdominal pain with nausea and vomiting. Bilirubin and alkaline phosphatase were found to be markedly elevated. Upper endoscopic ultrasound (EUS) revealed choledocholithiasis, and the patient required multiple endoscopic retrograde cholangiopancreatography (ERCP) sessions before successful extraction of all stones. Subsequent surgical exploration revealed congenital agenesis of the gallbladder. Although this is a rare finding, patients with agenesis of the gallbladder are at increased risk of developing de novo choledocholithiasis which may be challenging to extract.

  2. Gallbladder Agenesis with Refractory Choledocholithiasis

    Directory of Open Access Journals (Sweden)

    Jamie Tjaden

    2015-01-01

    Full Text Available Congenital agenesis of the gallbladder is a rare anomaly which is usually asymptomatic and found incidentally. In some cases, however, patients are symptomatic. Common symptoms include right upper quadrant abdominal pain, nausea, and vomiting. Jaundice is present in some symptomatic cases and is due to associated choledocholithiasis (Fiaschetti et al. 2009. In this case, a 63-year-old female presents with jaundice and episodic right upper quadrant abdominal pain with nausea and vomiting. Bilirubin and alkaline phosphatase were found to be markedly elevated. Upper endoscopic ultrasound (EUS revealed choledocholithiasis, and the patient required multiple endoscopic retrograde cholangiopancreatography (ERCP sessions before successful extraction of all stones. Subsequent surgical exploration revealed congenital agenesis of the gallbladder. Although this is a rare finding, patients with agenesis of the gallbladder are at increased risk of developing de novo choledocholithiasis which may be challenging to extract.

  3. Circannual rhythm in the incidence of cryptorchidism in Finland

    DEFF Research Database (Denmark)

    Kaleva, Marko M; Virtanen, Helena E; Haavisto, Anne-Maarit

    2005-01-01

    Conflicting data on circannual variation in birth rates of urogenital malformations have been reported previously. To assess risk factors of cryptorchidism we studied the seasonal variation of cryptorchidism in Finland. We performed a prospective cryptorchidism study in Turku, Finland, from 1997 ...

  4. Maternal bereavement and cryptorchidism in offspring

    DEFF Research Database (Denmark)

    Ingstrup, Katja Glejsted; Olsen, Jørn; Wu, Chunsen

    2015-01-01

    BACKGROUND: Cryptorchidism (undescended testis) is a common anomaly with largely unexplained etiology. Animal studies have suggested maternal emotional stress as a potential risk factor, but this has not been studied in humans. We aimed to investigate whether maternal bereavement due to the death...... interval = 0.92-1.14]). Results were similar when the diagnosis was verified with surgery. We adjusted for maternal and paternal age, birth year, and family history of cryptorchidism. CONCLUSION: We observed no association between maternal bereavement before and during pregnancy and the occurrence...

  5. Cryptorchidism in boys with imperforate anus

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, J M; Nielsen, Ole Henrik

    1995-01-01

    In a retrospective study of the case reports of 136 boys who were operated on for an imperforate anus and who survived at least 18 months, cryptorchidism was the most common associated anomaly, involving 26 cases (19%). The higher the level of the anorectal malformations, the higher was the incid......In a retrospective study of the case reports of 136 boys who were operated on for an imperforate anus and who survived at least 18 months, cryptorchidism was the most common associated anomaly, involving 26 cases (19%). The higher the level of the anorectal malformations, the higher...

  6. The challenge of early surgery for cryptorchidism

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Jensen, C.L.; Langballe, O

    2011-01-01

    Objective. In congenital cryptorchidism, a recent Nordic Consensus report recommends surgical correction at 6–12 months of age to prevent male infertility. In published series of orchiopexies the median age at surgery is often 3 years or more. The aim of this study was to evaluate whether early...... centres is important when treating cryptorchidism with early surgery, otherwise the positive beneficial biological impact on fertility potential may be lost due to treatment failure. Read More: http://informahealthcare.com/doi/abs/10.3109/00365599.2010.549091...

  7. The true incidence of cryptorchidism in Denmark

    DEFF Research Database (Denmark)

    Cortes, Dina; Kjellberg, Emma M; Breddam, Mette

    2008-01-01

    testes. Conclusions: In a small cohort of newborns the incidence of cryptorchidism in Denmark has not changed, and is similar to previous reports from the 1950s. The risk is higher in low birth weight singleton neonates but does not appear to be higher in twins, despite lower birth weight and prematurity...

  8. Gallbladder Agenesis with Refractory Choledocholithiasis

    OpenAIRE

    Tjaden, Jamie; Patel, Kevin; Aadam, Aziz

    2015-01-01

    Congenital agenesis of the gallbladder is a rare anomaly which is usually asymptomatic and found incidentally. In some cases, however, patients are symptomatic. Common symptoms include right upper quadrant abdominal pain, nausea, and vomiting. Jaundice is present in some symptomatic cases and is due to associated choledocholithiasis (Fiaschetti et al. 2009). In this case, a 63-year-old female presents with jaundice and episodic right upper quadrant abdominal pain with nausea and vomiting. Bil...

  9. Agenesis of the dorsal pancreas

    Science.gov (United States)

    Schnedl, Wolfgang J; Piswanger-Soelkner, Claudia; Wallner, Sandra J; Krause, Robert; Lipp, Rainer W

    2009-01-01

    During the last 100 years in medical literature, there are only 54 reports, including the report of Pasaoglu et al (World J Gastroenterol 2008; 14: 2915-2916), with clinical descriptions of agenesis of the dorsal pancreas in humans. Agenesis of the dorsal pancreas, a rare congenital pancreatic malformation, is associated with some other medical conditions such as hyperglycemia, abdominal pain, pancreatitis and a few other diseases. In approximately 50% of reported patients with this congenital malformation, hyperglycemia was demonstrated. Evaluation of hyperglycemia and diabetes mellitus in all patients with agenesis of the dorsal pancreas including description of fasting blood glucose, oral glucose tolerance test, glycated hemoglobin and medical treatment would be a future goal. Since autosomal dominant transmission has been suggested in single families, more family studies including imaging technologies with demonstration of the pancreatic duct system are needed for evaluation of this disease. With this letter to the editor, we aim to increase available information for the better understanding of this rare disease. PMID:19140241

  10. Erythropoietin may reduce the risk of germ cell loss in boys with cryptorchidism

    DEFF Research Database (Denmark)

    Cortes, D; Visfeldt, J; Thorup, J M

    2001-01-01

    of infertility. In order to increase the number of germ cells, and thereby the fertility potential, additional hormonal therapy has been attempted before surgery. In a study, small doses of the gonadotropin-releasing hormone analogue buserelin before orchiopexy caused higher values. Others have found......: Erythropoietin (Eprex) 100 IU/kg were administered subcutaneously weekly for 3 months prior to surgery in two cryptorchid boys, 6 months old and 1 year 9 months old, respectively, with renal function impairment. RESULTS: The number of spermatogonia per tubular cross-section in testicular biopsies was unusually...... that hormonal treatment with human chorionic gonadotropin or gonadotropin releasing hormone analogue may harm the germ cells in cryptorchidism. The aim of the study is to demonstrate that additional hormonal therapy with erythropoietin has a positive effect on the number of germ cells. MATERIALS AND METHODS...

  11. Development and descent of the testis in relation to cryptorchidism

    DEFF Research Database (Denmark)

    Virtanen, Helena E; Cortes, Dina; Rajpert-De Meyts, Ewa

    2007-01-01

    The testis descends in two phases. Animal studies suggest, that the transabdominal descent of the testis depends on the insulin-like hormone 3 (INSL3). Androgens are important in the inguinoscrotal testicular descent in animals and humans. In general, the cause of cryptorchidism is unknown...... and the aetiology is possibly multifactorial. Histological changes in cryptorchid testes demonstrate disturbed development. Conclusion: Since testicular descent is regulated by testis-derived hormones, cryptorchidism may reflect a functional defect of the testis....

  12. Maxillary sinus agenesis - report of two cases

    International Nuclear Information System (INIS)

    Pierre, Jorge Henrique Arraes de Alencar; Santana, Expedito Araujo

    2000-01-01

    Agenesis or aplasia of the maxillary sinuses is an extremely rare condition, and only eight cases have been reported in the world medical literature. These malformations may arise as a result of developmental defects. Two cases of unilateral agenesis of the maxillary sinus are presented and the radiological abnormalities and the embryology are discussed. The literature is also reviewed. (author)

  13. Congenital lumbar vertebrae agenesis in a lamb.

    Science.gov (United States)

    Farajli Abbasi, Mohammad; Shojaei, Bahador; Azari, Omid

    2017-01-01

    Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopically in the abdominal and thoracic regions as well as vertebral column. Partial absence of vertebral column has been reported in human and different animal species, as an independent occurrence or associated with other organs anomalies. The latter has been designated as caudal regression syndrome. Vertebral agenesis may arise from irregularity in the differentiation of somites to the sclerotome or sclerotome to the vertebral primordium. Most of the previously reported cases of agenesis were related to the lumbosacral region, lonely or along with other visceral absences. This case was the first report of congenital agenesis of lumbar vertebrae in a lamb.

  14. Gallbladder agenesis in a Chihuahua.

    Science.gov (United States)

    Kamishina, Hiroaki; Katayama, Masaaki; Okamura, Yasuhiko; Sasaki, Jun; Chiba, Satoshi; Goryo, Masanobu; Sato, Reeko; Yasuda, Jun

    2010-07-01

    A 4-year-old neutered male Chihuahua was presented with a history of anorexia and vomiting. Continuous elevation of liver enzymes was found on repeated blood examinations and the dog was referred to us for further evaluation. The absence of gallbladder was suspected on ultrasonography. Exploratory laparotomy and retrograde cholangiography confirmed gallbladder agenesis and a possible hypoplasia of the right medial and lateral liver lobes. Histologically, proliferation of bile ductules associated with portal fibrosis and pseudolobular formation were apparent in the liver lobes.

  15. A Case of Distal Vaginal Agenesis Presenting with Recurrent Urinary Tract Infection and Pyuria in a Prepubertal Girl.

    Science.gov (United States)

    Dural, Ozlem; Ugurlucan, Funda Gungor; Yasa, Cenk; Bastu, Ercan; Eren, Hulya; Yuksel, Bahar; Celik, Serdal; Akhan, Suleyman Engin

    2017-02-01

    Isolated distal vaginal agenesis is a rare anomaly and mostly becomes symptomatic after menarche. We describe an unusual presentation of this anomaly in a prepubertal girl. An 11-year-old prepubertal girl presented with recurrent urinary tract infection, pyuria, and right-sided renal agenesis. The findings of perineal inspection, ultrasonography, and magnetic resonance imaging were consistent with a distal vaginal agenesis with pyometrocolpos. Discharging pyometrocolpos with dissection of the atretic portion and a pull-through vaginoplasty were performed. A cystoscopy showed no sign of a vesicovaginal or uterine fistula. This rare presentation of distal vaginal agenesis reminds us that congenital malformations of the female genital tract should be considered in patients with congenital anomalies of the urinary system and/or recurrent urinary tract infection, even during the prepubertal period. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  16. New discovery of cryptorchidism: Decreased retinoic acid in testicle

    Directory of Open Access Journals (Sweden)

    Jinpu Peng

    2016-05-01

    Full Text Available This study focuses on investigation of cryptorchidism induced by flutamide (Flu and its histopathological damage, and detects retinoic acid concentration in testicle tissue, in order to find a new method for clinical treatment to infertility caused by cryptorchidism. Twenty SD (Sprague Dawley pregnant rats were randomly divided into Flu cryptorchidism group (n = 10 and normal control group (n = 10. HE stained for observing morphological difference. Transmission electron microscope (TEM was used for observing the tight junction structure between Sertoli cells. Epididymal caudal sperms were counted and observed in morphology. The expression of stimulated by retinoic acid gene 8 (Stra8 was detected using immunohistochemistry, western blot, and Q-PCR. High performance liquid chromatography (HPLC analysis was made on retinoic acid content. Sperm count and morphology observation confirmed cryptorchidism group was lower than normal group in sperm quantity and quality. The observation by TEM showed a loose structure of tight junctions between Sertoli cells. Immunohistochemistry, western blot, and Q-PCR showed that cryptorchidism group was significantly lower than normal group in the expression of Stra8. HPLC showed that retinoic acid content was significantly lower in cryptorchid testis than in normal testis. In the cryptorchidism model, retinoic acid content in testicular tissue has a significant reduction; testicles have significant pathological changes; damage exists in the structure of tight junctions between Sertoli cells; Stra8 expression has a significant reduction, perhaps mainly contributing to spermatogenesis disorder.

  17. Lifestyle in pregnancy and cryptorchidism in sons

    DEFF Research Database (Denmark)

    Kjersgaard, Camilla; Arendt, Linn Håkonsen; Ernst, Andreas

    2018-01-01

    Purpose: Cryptorchidism is the most frequent congenital malformation in boys and is associated with low sperm count, infertility and testicular cancer. Unhealthy maternal lifestyle during pregnancy such as smoking, high prepregnancy body mass index (BMI) as well as alcohol and caffeine intake may...... BMI ≥30 kg/m2, the HR was 1.32 (95% CI: 1.06-1.65). Binge drinking was associated with an HR pregnancy (HR: 0.81; 95% CI: 0.67-0.98). Average maternal alcohol intake and caffeine intake during pregnancy were not significantly associated with a higher...... provided information on maternal lifestyle from early pregnancy. Data were linked to several Danish health registers, multiple imputation was used to handle missing data and Cox proportional hazards models were used to adjust for potential confounders. Results: In total, 85,923 boys were included...

  18. Genetic, Maternal, and Environmental Risk Factors for Cryptorchidism

    DEFF Research Database (Denmark)

    Barthold, Julia Spencer; Reinhardt, Susanne; Thorup, Jorgen

    2016-01-01

    genetic risk, multiple susceptibility loci, and a role for the maternal environment. Epidemiologic studies have identified low birth weight or intrauterine growth retardation as factors most strongly associated with cryptorchidism, with additional evidence suggesting that maternal smoking and gestational...

  19. Hormonal changes in 3-month-old cryptorchid boys

    DEFF Research Database (Denmark)

    Suomi, Anne-Maarit; Main, Katharina M; Kaleva, Marko M

    2006-01-01

    CONTEXT: Hormonal dysregulation has been suggested to be one of many etiological factors of cryptorchidism. OBJECTIVES: The objective of this study was to assess the hypothalamic-pituitary-testicular axis in cryptorchid boys during the postnatal hormonal surge. DESIGN: This was a prospective......, longitudinal, population-based study. SETTING: The study was performed at two primary obstetric centers. PARTICIPANTS: Study participants included 388 Finnish and 433 Danish boys (88 and 34 with cryptorchidism, respectively). INTERVENTIONS: Clinical examinations were performed at 0 and 3 months. Blood samples...... were taken at 3 months. MAIN OUTCOME MEASURES: The main outcome measures were testis position and reproductive hormone levels. RESULTS: Finnish cryptorchid boys had significantly higher FSH [1.59 (0.50-3.53) vs. 1.30 (0.49-2.92) IU/liter; P

  20. Pulmonary Artery Agenesis: A Case Series

    Directory of Open Access Journals (Sweden)

    Meltem Ağca

    2015-04-01

    Full Text Available Pulmonary artery agenesis is a rare congenital abnormality in which atresia was encountered in the short segment of the right or left pulmonary arteries. It can be isolated or associated with cardiac abnormalities such as tetralogy of Fallot, septal defects or pulmonary stenosis.The majority of cases are diagnosed in childhood whereas some cases yield no symptoms until adulthood. We evaluated retrospectively 5 pulmonary artery agenesis cases diagnosed in our clinics between 1998-2010 with respect to the literature.

  1. Agenesia pulmonar unilateral Unilateral pulmonary agenesis

    OpenAIRE

    Maura Cavada Malcon; Claudio Mattar Malcon; Marina Neves Cavada; Paulo Eduardo Macedo Caruso; Lara Flório Real

    2012-01-01

    A agenesia pulmonar é uma anomalia congênita rara. Relatamos um caso de um menino de 8 anos de idade com agenesia pulmonar à esquerda sem associação com outras malformações. O diagnóstico foi realizado por achados de imagem quando o paciente apresentou sintomas como tosse, sibilância e dispneia sem melhora do quadro clínico após evolução de 30 dias.Pulmonary agenesis is a rare congenital anomaly. We report the case of an 8-year-old boy with left lung agenesis, without any other congenital mal...

  2. Sirenomelia with agenesis of corpus callosum.

    Science.gov (United States)

    Shirani, Shapour; Rekabi, Vahab; Kamalian, Naser

    2006-07-01

    Sirenomelia is a very rare anomaly presented with fusion of the lower limbs. Genitourinary, neural tube, and vertebral anomalies are found in most cases. We report a case of sirenomelia with agenesis of corpus callosum, which has not been reported previously.

  3. Mild gestational diabetes as a risk factor for congenital cryptorchidism

    DEFF Research Database (Denmark)

    Virtanen, Helena E; Tapanainen, Anna E; Kaleva, Marko M

    2006-01-01

    of cryptorchidism, e.g. prematurity and weight for gestational age, abnormal maternal glucose metabolism was significantly more common in the group of cryptorchid boys [diet-treated gestational diabetes, P = 0.0001; odds ratio, 3.98 (95% confidence interval, 1.97-8.05); diet-treated gestational diabetes or only......CONTEXT: Cryptorchidism is the most common malformation in newborn boys. Maternal diabetes has previously been suggested to be a risk factor for this disorder in one epidemiological study. OBJECTIVE: Evaluation of the prevalence of maternal glucose metabolism disorders during pregnancy in newborn...... diabetes diagnosis and abnormality of the result of a 2-h 75-g oral glucose tolerance test during pregnancy were obtained from the hospital records after delivery. RESULTS: After adjustment for possible confounding factors, i.e. maternal smoking during pregnancy, maternal age at delivery, and risk factors...

  4. Testicular histology in cryptorchid boys - aspects of fertility

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, jørgen; Petersen, BL

    2007-01-01

    , testis, infertility, germ cells. Correspondence: Jorgen M. Thorup MD, PhD. Department of Paediatric Surgery and Department of Pathology, Rigshospitalet University of Copenhagen, 2100 Copenhagen O, DENMARK. e-mail: j-thorup@rh.dk Introduction Cryptorchidism is associated with infertility. Early surgery...... who had surgery for cryptorchidism with simultaneous successful testicular biopsy, between Januar 1971 and March 2006. Excluded were patients who had undergone prior inguinal surgery or exhibited retractile testes, those with a uterus, tuba uterina, testicular neoplasia or known X chromosome...... fertility potential (2, 18, 20), but is notable that lack of germ cells may result in infertility even in unilateral cryptorchidism. This may be because the same pathological mechanisms are operating in both testes. Our results emphasize the importance of performing orchiopexy before 15 month of age...

  5. Cryptorchidism and hypospadias in sons of gardeners and farmers

    DEFF Research Database (Denmark)

    Weidner, I S; Møller, H; Jensen, Tina Kold

    1998-01-01

    Cryptorchidism and hypospadias have been related to prenatal estrogen exposure in animal models. Some chemicals used in farming and gardening have been shown to possess estrogenic and other hormone-disrupting effects. Earlier studies have indicated increased risks of urogenital malformations...... in the sons of pesticide appliers. In the present study, parental occupation in the farming and gardening industry among 6,177 cases of cryptorchidism, 1,345 cases of hypospadias, and 23,273 controls, born live from 1983 to 1992 in Denmark, was investigated in a register-based case-control study...... of female gardeners could suggest an association with prenatal exposure to occupationally related chemicals....

  6. Agenesia pulmonar unilateral Unilateral pulmonary agenesis

    Directory of Open Access Journals (Sweden)

    Maura Cavada Malcon

    2012-08-01

    Full Text Available A agenesia pulmonar é uma anomalia congênita rara. Relatamos um caso de um menino de 8 anos de idade com agenesia pulmonar à esquerda sem associação com outras malformações. O diagnóstico foi realizado por achados de imagem quando o paciente apresentou sintomas como tosse, sibilância e dispneia sem melhora do quadro clínico após evolução de 30 dias.Pulmonary agenesis is a rare congenital anomaly. We report the case of an 8-year-old boy with left lung agenesis, without any other congenital malformations. When the patient presented symptoms, including cough, wheezing, and dyspnea, with no clinical improvement after a period of 30 days, imaging studies were conducted and the diagnosis was made.

  7. Vermian agenesis without posterior fossa cyst

    International Nuclear Information System (INIS)

    Adamsbaum, C.; Moreau, V.; Bulteau, C.; Burstyn, J.; Lair Milan, F.; Kalifa, G.

    1994-01-01

    We report 11 cases of vermian partial agenesis without posterior fossa cyst or hemispheric abnormalities. Characteristic MR signs were: absence of the posterior lobe, hypoplasia of the anterior lobe, a narrow sagittal cleft separating the hemispheres (''buttocks sign'') and fourth ventricle deformity. The main clinical signs were complex oculomotor dysfunction and developmental delay. None of the patients had respiratory symptoms. Consideration is given to the relationship between Joubert syndrome and this entity as well as to embroyological data. (orig.)

  8. Total agenesis of the left pericardium

    Directory of Open Access Journals (Sweden)

    J. Glauco Lobo Fº

    1999-09-01

    Full Text Available This is the report of a 46-year-old patient with the preoperative diagnosis of an atrial septal defect (ASD of the ostium secudum type. After sternectomy, partial agenesis of the left pericardium was diagnosed. It is our opinion that, if the radiographic picture is suggestive of this entity, a clinical search for cardiopulmonary anomalies should be performed, because the majority of these associated anomalies can and should be surgically corrected.

  9. A history of cryptorchidism: lessons from the eighteenth century.

    Science.gov (United States)

    Tackett, Leslie D; Patel, Sutchin R; Caldamone, Anthony A

    2007-12-01

    John Hunter in 1786 opened the door to more than 200 years of study and discussion of the cryptorchid testis. We review the history that has brought us to our current surgical treatment of this condition. We performed a review of the medical and historical surgical literature pertaining to cryptorchidism. The study of cryptorchidism began with the anatomical descriptions of Baron Albrecht von Haller and John Hunter. Attempts at surgical correction of the undescended testis began in the early 1800s, culminating in the first successful orchidopexy by Thomas Annandale in 1877. Further contributions to the surgical technique include: (1) Arthur Dean Bevan's division of the processus vaginalis to prevent reascent and his stress on the importance of adequate mobilization of the spermatic cord, (2) the description by Robert Prentiss of surgical triangles which allowed for mobilization of the spermatic cord and placement of the testis into the scrotum without tension, and (3) Lattimer's subdartos pouch. Our understanding and the surgical treatment of cryptorchidism have continued to evolve over the last 200 years. A study of the history of surgical management of the undescended testis sheds light on the rationale behind current management.

  10. Cryopreservation of intact testicular tissue from boys with cryptorchidism

    DEFF Research Database (Denmark)

    Kvist, K; Thorup, Jørgen Mogens; Byskov, A G

    2006-01-01

    Boys with cryptorchidism often face fertility problems in adult life despite having orchiopexy performed at a very young age. During this operation, a biopsy of the testis is normally taken in order to evaluate their infertility potential and the presence of malignant cells. This study evaluated...

  11. Cryptorchidism due to chromosome 5q inversion duplication.

    Science.gov (United States)

    Dutta, M K; Gundgurthi, A; Garg, M K; Pakhetr, R

    2013-12-01

    We present a 15 year old boy who was born out of a non consanguineous marriage, and presented with bilateral cryptorchidism, mental retardation, facial dysmorphism, hypergonadotrophic hypogonadism with failure of anatomical and biochemical localisation of testes. Karyotype analysis showed 46 XY with inverted duplication on chromosome 5q22-31.

  12. A note on cryptorchidism in Angora goats | Skinner | South African ...

    African Journals Online (AJOL)

    South African Journal of Animal Science. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 2, No 2 (1972) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. A note on cryptorchidism in Angora goats.

  13. Cryptorchidism--aspects of pathogenesis, histology and treatment

    DEFF Research Database (Denmark)

    Cortes, Dina

    1998-01-01

    of the caudal developmental field, cryptorchidism may be interpreted as a feature of such an abnormal differentiation. The general significance of our hypothesis is supported by the fact that both position and histology of the undescended testes were independent of a possible presence of the malformations...

  14. Enamel renal syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    S V Kala Vani

    2012-01-01

    Full Text Available Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky-MacGibbon syndrome. It is characterized by enamel agenesis and medullary nephrocalcinosis. This paper describes enamel renal syndrome in a female patient born in a consanguineous family.

  15. Isolated Unilateral Pulmonary Artery Agenesis complicated by Symptomatic Aspergilloma

    LENUS (Irish Health Repository)

    Daly, A

    2017-11-01

    Isolated unilateral pulmonary artery agenesis is a rare diagnosis. Poor blood flow to the lung parenchyma renders the tissue susceptible to opportunistic infections. We present the unusual case of isolated unilateral pulmonary artery agenesis complicated by aspergilloma. Management options and considerations are discussed.

  16. Agenesis of internal carotid artery associated with congenital anterior hypopituitarism

    International Nuclear Information System (INIS)

    Moon, W.-J.; Porto, L.; Lanfermann, H.; Zanella, F.E.; Weis, R.

    2002-01-01

    We report a rare case of unilateral agenesis of the internal carotid artery in association with congenital anterior hypopituitarism. The collateral circulation is supplied by a transsellar intercavernous anastomotic vessel connecting the internal carotid arteries. These abnormalities are well depicted on MRI and MRA. The agenesis of the internal carotid artery may explain the pathogenesis of some of congenital anterior hypopituitarism. (orig.)

  17. Renal Ultrasound in the Diagnosis of the Non-functioning Kidney

    International Nuclear Information System (INIS)

    Kang, Ik Won; Suh, Jeong Soo

    1982-01-01

    Renal ultrasound is independent of renal function and capable of renal imaging in impaired or dysplastic renal diseases. Authors reviewed renal ultrasonographic findings of 36 cases which showed non-visualization in intravenous pyelography from Feb. 1979 to Sep. 1982 at Seoul National university Hospital. The results are as follows: 1. Causes of non-visualization of the kidney in IVP were unilateral hydronephrosis(18 cases), renal tuberculosis(7), renal failure(6), renal agenesis(3), tumor(1),and pyonephrosis(1) 2. The sonographic findings were diagnostic in all the cases of unilateral hydronephrosis, renal agenesis and renal tumor. 3. The sonographic findings were not diagnostic but suggestive in more than half cases of renal tuberculosis. 4. Renal ultrasound was not helpful in the diagnosis of renal failure, but useful in delineation of renal size and shape

  18. Agenesis of maxillary lateral incisors and associated dental anomalies.

    Science.gov (United States)

    Garib, Daniela Gamba; Alencar, Bárbara Maria; Lauris, José Roberto Pereira; Baccetti, Tiziano

    2010-06-01

    The objectives of this study were to evaluate the prevalence of dental anomalies in patients with agenesis of maxillary lateral incisors and to compare the findings with the prevalence of these anomalies in the general population. A sample of 126 patients, aged 7 to 35 years, with agenesis of at least 1 maxillary lateral incisor was selected. Panoramic and periapical radiographs and dental casts were used to analyze other associated dental anomalies, including agenesis of other permanent teeth, ectopia of unerupted permanent teeth, microdontia of maxillary lateral incisors, and supernumerary teeth. The occurrence of these anomalies was compared with prevalence data previously reported for the general population. Statistical testing was performed with the chi-square test (P <0.05) and the odds ratio. Patients with maxillary lateral incisor agenesis had a significantly increased prevalence rate of permanent tooth agenesis (18.2%), excluding the third molars. The occurrence of third-molar agenesis in a subgroup aged 14 years or older (n = 76) was 35.5%. The frequencies of maxillary second premolar agenesis (10.3%), mandibular second premolar agenesis (7.9%), microdontia of maxillary lateral incisors (38.8%), and distoangulation of mandibular second premolars (3.9%) were significantly increased in our sample compared with the general population. In a subgroup of patients aged 10 years or older (n = 115), the prevalence of palatally displaced canines was elevated (5.2%). The prevalences of mesioangulation of mandibular second molars and supernumerary teeth were not higher in the sample. Permanent tooth agenesis, maxillary lateral incisor microdontia, palatally displaced canines, and distoangulation of mandibular second premolars are frequently associated with maxillary lateral incisor agenesis, providing additional evidence of a genetic interrelationship in the causes of these dental anomalies. 2010 American Association of Orthodontists. Published by Mosby, Inc. All

  19. Recurrence of acute myeloid leukemia in cryptorchid testis: case report

    OpenAIRE

    Góes, Luccas Santos Patto de; Lopes, Roberto Iglesias; Campos, Octavio Henrique Arcos; Oliveira, Luiz Carlos Neves de; Sant’Anna, Alexandre Crippa; Dall’Oglio, Marcos Francisco; Srougi, Miguel

    2014-01-01

    A 23-year-old male with a history of bone marrow transplant for acute myeloid leukemia. He presented a large mass in the right inguinal region 5 years ago. Upon physical examination, right-sided cryptorchidism was observed. The tumor markers alpha-fetoprotein and beta-HCG were within normalcy range and lactate dehydrogenase was raised. Computed tomography of the abdomen and pelvis revealed right testicular mass in contiguity with the inguinal canal to the ipsilateral retroperitoneum, associat...

  20. Persistent Pesticides in Human Breast Milk and Cryptorchidism

    Science.gov (United States)

    Damgaard, Ida N.; Skakkebæk, Niels E.; Toppari, Jorma; Virtanen, Helena E.; Shen, Heqing; Schramm, Karl-Werner; Petersen, Jørgen H.; Jensen, Tina K.; Main, Katharina M.

    2006-01-01

    Introduction Prenatal exposure to some pesticides can adversely affect male reproductive health in animals. We investigated a possible human association between maternal exposure to 27 organochlorine compounds used as pesticides and cryptorchidism among male children. Design Within a prospective birth cohort, we performed a case–control study; 62 milk samples from mothers of cryptorchid boys and 68 from mothers of healthy boys were selected. Milk was collected as individual pools between 1 and 3 months postpartum and analyzed for 27 organochlorine pesticides. Results Eight organochlorine pesticides were measurable in all samples (medians; nanograms per gram lipid) for cases/controls: 1,1-dichloro-2,2-bis(4-chlorophenyl)ethylene (p,p′-DDE): 97.3/83.8; β-hexachlorocyclohexane (β-HCH): 13.6/12.3; hexachlorobenzene (HCB): 10.6/8.8; α -endosulfan: 7.0/6.7; oxychlordane: 4.5/4.1; 1,1,1-trichloro-2,2-bis(4-chlorophenyl)ethane (p,p′-DDT): 4.6/4.0; dieldrin: 4.1/3.1; cis-heptachloroepoxide (cis-HE): 2.5/2.2. Five compounds [octachlorostyrene (OCS); pentachlorobenzene, 1,1-dichloro-2,2-bis(4-chlorophenyl)ethane (p,p′-DDD); o,p′-DDT; mirex] were measurable in most samples (detection rates 90.8–99.2%) but in lower concentrations. For methoxychlor, cis-chlordane, pentachloroanisole (PCA), γ -HCH, 1,1-dichloro-2-(2-chlorophenyl)-2,2(4-chlorophenyl)ethane, trans-chlordane, α -HCH, and o,p′-DDE, both concentrations and detection rates were low (26.5–71.5%). Heptachlor, HCH (δ, ɛ ), aldrin, β-endosulfan and trans-heptachloroepoxide were detected at negligible concentrations and low detection rates and were not analyzed further. Seventeen of 21 organochlorine pesticides [p,p′-DDT, p,p′-DDE, p,p′-DDD, o,p′-DDT, HCH (α , β, γ ), HCB, PCA, α -endosulfan, cis-HE, chlordane (cis-, trans-) oxychlordane, methoxychlor, OCS, and dieldrin] were measured in higher median concentrations in case milk than in control milk. Apart from trans-chlordane (p = 0

  1. A case of obstructed hemivagina with ipsilateral renal agenesis

    African Journals Online (AJOL)

    A.S. El-agwany

    The patient is usually young and presents with dysmenorrhea. The diagnosis is frequently delayed. Early diagnosis and excision of the vaginal septum will relieve the patient of her symptoms and prevents subsequent development of endometriosis and infertility. Case report. 22-year-old female presented to our clinic with ...

  2. Laparoscopic Colectomy for a Patient with Congenital Renal Agenesis

    African Journals Online (AJOL)

    We present a very rare case of laparoscopic colectomy for a patient with ascending colon cancer and an agenetic right kidney. A 57‑year‑old man visited our institute for further evaluation for a positive fecal occult blood test. Approximately, 20 years earlier, the right kidney of the patient was found to be congenitally absent.

  3. Laparoscopic Colectomy for a Patient with Congenital Renal Agenesis

    African Journals Online (AJOL)

    2013-10-07

    the tumor could not be elevated by injection of saline into ... on Monday, October 07, 2013, IP: 41.135.175.93] || Click here to download free Android application for this journal .... the ureter facilitate the safe treatment of patients with congenital ...

  4. Treatment of cervical agenesis with minimally invasive therapy: Case report

    Directory of Open Access Journals (Sweden)

    Azami Denas Azinar

    2017-11-01

    Full Text Available Cervical agenesis is very rare congenital disorder case with cervical not formed. Because of cervical clogged so that menstruation can not be drained. We Report the case of a19 years old women still single with endometrioma, hematometra, cervical agenesis and perform surgery combination laparoscopy and transvaginally with laparoscopic cystectomy, neocervix, and use catheter no 24f in the new cervix. And now she can currently be normal menstruation. Minimally invasive theraphy of congenital anomalies case is recommended to save reproductive function. Keywords: Cervical agenesis, minimal invasive theraphy

  5. Presentations of agenesis of the hemidiaphragm in an adult

    International Nuclear Information System (INIS)

    Izeldin, Osama M.; Ahmed, Mohamed E.

    2008-01-01

    A 67-year-old man was presented with chest tightness and vomiting of one-week duration. On physical examination bowel sounds were heard on the left chest. Plain chest x-ray, barium swallow and CT gastric scan suggested volvulus with diaphragmatic hernia. At laparotomy there was complete agenesis of the left hemidiaphragm with no diaphragmatic remnants seen and no associated lung hypoplasia. This is an extremely rare condition and careful assessment is needed to differentiate between diaphragmatic hernia and agenesis of diaphragm as more cases could be diagnosed in the future as a result of good perinatal care of agenesis of hemidiaphragm (AHD) and long term survival to adulthood. (author)

  6. The risk of cryptorchidism among sons of women working in horticulture in Denmark

    DEFF Research Database (Denmark)

    Gabel, Pernille; Jensen, Morten Søndergaard; Andersen, Helle Raun

    2011-01-01

    Androgens are crucial for normal testicular descent. Studies show that some pesticides have estrogenic or antiandrogenic effects, and that female workers exposed to pesticides have increased risk of having a boy with cryptorchidism. The main objective of the present study was to investigate wheth...... pregnant women exposed to pesticides due to their work in horticulture experience excess risk of having sons with cryptorchidism....

  7. Decision Making for Cryptorchid Castration; a Retrospective Analysis of 280 Cases

    NARCIS (Netherlands)

    Huppes, Tsjester; Stout, Tom A.E.; Ensink, Jos M.

    Abstract The location of an undescended testicle influences the choice of surgical technique for efficient cryptorchid castration. We review a standardized protocol for preoperative examination to dictate surgical approach to cryptorchidism. Cases are split into two periods: 2004–2006 and 2007–2014.

  8. Serum Bisphenol A Level in Boys with Cryptorchidism: A Step to Male Infertility?

    Directory of Open Access Journals (Sweden)

    Marta Diana Komarowska

    2015-01-01

    Full Text Available Cryptorchidism is the most common congenital birth defect in boys and affects about 2–4% full-term male neonates. Its etiology is multifactorial. Purpose. To evaluate the serum bisphenol A (BPA levels in boys with cryptorchidism and healthy boys and to assess the risk of environmental exposure to BPA using the authors’ questionnaire. The data were acquired from a study on boys with cryptorchidism (n=98 and a control group (n=57. Prior to surgery, all patients had BPA serum levels evaluated. The size, position, rigidity of the testis, and abnormality of the epididymis of the undescended testis were assessed. Parents also completed a questionnaire on the risks of exposure to BPA in everyday life. Results. The testes in both groups were similar in size. The turgor of the undescended testis in the group of boys with cryptorchidism was decreased. Free serum BPA level in cryptorchid boys and in the control group was not statistically significant (p>0.05. The conjugated serum BPA level in cryptorchid boys and in the control group was statistically significant (p≤0.05. Total serum BPA level in cryptorchid boys and in the control group was statistically significant (p<0.05. Serum total BPA level was related with a positive answer about problems with conception (p<0.02. Conclusion. Our study indicated that high serum BPA was associated with cryptorchidism.

  9. Deep Venous Thrombosis of the Leg, Associated with Agenesis of the Infrarenal Inferior Vena Cava and Hypoplastic Left Kidney (KILT Syndrome in a 14-Year-Old Child

    Directory of Open Access Journals (Sweden)

    Sakshi Bami

    2015-01-01

    Full Text Available Agenesis of the inferior vena cava (IVC is a rare anomaly which can be identified as incidental finding or can be associated with iliofemoral vein thrombosis. IVC agenesis has a known association with renal anomalies which are mainly confined to the right kidney. We describe a case of a 14-year-old male who presented with left leg swelling and pain. Ultrasonography confirmed the presence of left leg deep vein thrombosis (DVT. No underlying hematologic risk factors were identified. A CT scan was obtained which demonstrated absent infrarenal IVC and extensive thrombosis in the left deep venous system and development of collateral venous flow into the azygous/hemiazygous system, with extension of thrombus into paraspinal collaterals. An additional finding in the patient was an atrophic left kidney and stenosis of an accessory left renal artery. Agenesis of the IVC should be considered in a young patient presenting with lower extremity DVT, especially in patients with no risk factors for thrombosis. As agenesis of the IVC cannot be corrected, one should be aware that there is a lifelong risk of lower extremity DVT.

  10. Isolated Left Pulmonary Artery Agenesis: A Case Report

    Directory of Open Access Journals (Sweden)

    Tansel Ansal Balcı

    2012-08-01

    Full Text Available Unilateral pulmonary artery agenesis without any cardiovascular malformation is a rare anomaly. We present the imaging findings of a patient who was diagnosed as isolated left pulmonary artery agenesis. A 27-year-old female patient was admitted to our hospital due to dyspnea during exercise for five years. Chest X-ray revealed minimally small left pulmonary hilum and left lung. She was admitted to our clinic with the suspicion of pulmonary artery pathology. Absent perfusion of the left lung with normal ventilation was visualized on scintigraphy. MDCT angiography of pulmonary arteries showed absent left main pulmonary artery with systemic collaterals around left hemithorax. Pulmonary artery agenesis can be asymptomatic and isolated until adulthood. Both scintigraphy and CT angiography images of pulmonary artery agenesis of a patient are rare in the literature. Pulmonary ventilation- perfusion scintigraphy can be used not only for pulmonary embolism but also pathologies involving pulmonary artery and its branches. (MIRT 2012;21:80-83

  11. Agenesis of the corpus callosum with associated inter-hemispheric ...

    African Journals Online (AJOL)

    Adele

    developing countries should be alert to organic disorders presenting with ... CT Scan (Figures 1 and 2) of the head revealed agenesis ... co-existing lipoma is often seen with this type of ... childhood behavioural disorders, bipolar disorders,.

  12. Long-Term Follow-Up after Treatment of Cryptorchidism

    DEFF Research Database (Denmark)

    Thorup, Jorgen; Cortes, Dina

    2016-01-01

    -known knowledge on the field is presented.To some extent a smaller testis in a higher scrotal position than normal must be accepted as a fair cosmetic result after orchidopexy in childhood. The smaller testis size is related to the impaired fertility potential of the testis. In cases with atrophy, testicular......When considering long-term prognosis and results in adult age following treatment of cryptorchidism in childhood there are three main issues to be discussed: cosmetics, fertility, and malignancy. In the present review, the most recent research on the topics related to summaries of well...

  13. Is infertility after surgery for cryptorchidism congenital or acquired?

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, J M; Visfeldt, J

    1998-01-01

    We evaluated whether deletions of the DAZ (deleted in azoospermia) gene, abnormal karyotypes or hypogonadotropic hypogonadism (HH) were demonstrable in infertile men who had undergone surgery in childhood for cryptorchidism with a simultaneous testicular biopsy that demonstrated no or almost...... exhibited a 46,XY karyotype. There were no deletions of the DAZ-gene, no HH and no testicular atrophy. The infertility was thus not proved to be congenital, and consequently, surgical treatment is indicated before the germ cells disappear from undescended testes. This appears to be before 15 months of age....

  14. Prenatal exposure to antiepileptic drugs and dental agenesis.

    Directory of Open Access Journals (Sweden)

    Pernille E Jacobsen

    Full Text Available OBJECTIVE: The aim of the study was to investigate the association between prenatal exposure to AEDs and the risk of dental agenesis and to differentiate between the possible effects of the different drugs used. METHODS: Data on 214 exposed and 255 unexposed children, aged 12-18 years, were extracted from the Prescription Database of the Central Denmark Region and North Denmark Region and the Danish Medical Birth Registry. The children's dental charts were examined for the presence of dental agenesis. RESULTS: Overall, children exposed to AED in utero had an increased risk of developing dental agenesis, but as a group, the difference was not significant (OR = 1.7; [95% CI: 0.8-3.6]. The risk of developing dental agenesis was three-fold increased (OR = 3.1; [95% CI: 1.3-7.4] in children exposed to valproate in mono- or in poly-therapy with other AEDs than carbamazepine or oxcarbazepine. The risk was further increased (OR = 11.2; [95% CI: 2.4-51.9] in children exposed to valproate and carbamazepine or oxcarbazepine in combination. CONCLUSIONS: The present study shows that dental agenesis is a potential congenital abnormality that is related to prenatal exposure to valproate, and dental agenesis may be considered a sensitive marker for the teratogenicity of valproate.

  15. Radiographic Assessment of Dental Maturation in Children With Dental Agenesis.

    Science.gov (United States)

    Medina, Aida Carolina; Pozo, Rodrigo Del; de Cedres, Lucila Blanco

    Dental agenesis is the most common developmental anomaly in humans, frequently associated with disorders in dental development and maturation. The purpose of this study is to determine radiographic variations in dental maturation in a group of Venezuelan children with dental agenesis. 1,188 panoramic radiographs, from healthy patients ages 5 to 12 years old were studied for agenesis of permanent teeth. Dental maturation was assessed by relative eruption and dental age according to Nolla, comparing children affected with dental agenesis to a stratified control group selected from the same population, excluding children with premature loss of primary teeth in the left quadrants and unclear radiographs. Descriptive analysis, and differences between means and medians (Student t test, Kruskall-Wallis p=0.05) were performed. Medians for Nolla stages were similar between groups, with delay in tooth formation in the agenesis group for second molars (p<0.05) and maxillary lateral incisors and second premolars. Dental age was significantly underestimated for both groups, -0.89 (±0.78) for the control group and -1.20 (±0.95) for the study group. Tooth eruption was similar between groups. Dental age was significantly delayed in Venezuelan children with dental agenesis, with variable significance for tooth formation of studied teeth.

  16. Effects of methanolic extract of Moringa oleifera leaves on semen and biochemical parameters in cryptorchid rats.

    Science.gov (United States)

    Afolabi, Ayobami Oladele; Aderoju, Hameed Adeola; Alagbonsi, Isiaka Abdullateef

    2013-01-01

    While anti-oxidant effects of Moringa oleifera in much oxidative stress related diseases have been well reported, cryptorchidism on the other hand has been shown to cause oxidative stress. However, study is scanty on the likely role of Moringa oleifera in reducing cryptorchidism-induced oxidative stress in rats has not been studied. The present study looked into the effects of methanolic extract of Moringa oleifera leaves (MEMO) on semen and biochemical parameters in cryptorchid rats. Twenty male albino rats (200-250 g) were randomly divided into 4 groups (n=5 each). Groups A and B were sham-operated and treated with corn-oil and 200 mg/kg of MEMO respectively, while groups C and D were rendered cryptorchid and also treated with corn-oil and 200 mg/kg of MEMO respectively. Cryptorchid rats had lower testicular weight, sperm count, germ cell count, testicular superoxide dismutase (SOD) concentration, testicular total protein and higher testicular malondialdehyde (MDA) concentration compared to sham-operated rats. MEMO had no significant effect on testicular weight and MDA concentration, while it significantly increased sperm count, germ cell count, testicular SOD and total protein in the cryptorchid rats. The present study suggests that MEMO ameliorates cryptorchidism associated germ cell loss and oxidative stress.

  17. Do ethnic patterns in cryptorchidism reflect those found in testicular cancer?

    Science.gov (United States)

    Gurney, Jason; Sarfati, Diana; Stanley, James; Studd, Rodney

    2013-11-01

    There are established variations in testicular cancer incidence between ethnic groups within countries. It is currently unclear whether the occurrence of cryptorchidism-a known risk factor for testicular cancer-follows similar patterns. In New Zealand Māori have unusually high rates of testicular cancer compared to individuals of European ancestry. We hypothesized that ethnic trends in the incidence of cryptorchidism would reflect those for testicular cancer in this setting. We followed 318,441 eligible male neonates born in New Zealand between 2000 and 2010 for the incidence of orchiopexy confirmed cryptorchidism and the incidence of known risk factors for cryptorchidism (low birth weight, short gestation, small size for gestational age) using routine maternity, hospitalization and mortality records. Logistic regression was used to calculate odds ratios for the presence of known risk factors for cryptorchidism by ethnic group. Poisson regression was used to calculate relative risk of cryptorchidism by ethnicity, adjusted for risk factors. Ethnic patterns of cryptorchidism incidence in New Zealand closely mirrored those previously observed for testicular cancer. Māori had higher rates of cryptorchidism than all other ethnic groups (adjusted RR 1.2 [95% CI 1.11-1.3]), with Pacific (0.89 [0.8-0.99]) and Asian groups (0.68 [0.59-0.79]) having the lowest rates (European/other, referent). Since the principal risk factors for cryptorchidism are present in utero, the results of the current study strengthen the likelihood that the ethnic patterning of testicular cancer is at least partly due to prenatal risk factors. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  18. Vaginal agenesis: Experience with sigmoid colon neovaginoplasty

    Directory of Open Access Journals (Sweden)

    Rawat Jiledar

    2010-01-01

    Full Text Available Aim: Objective of this study is to report our experience with sigmoid vaginoplasty in adolescents. Materials and Methods: A retrospective study of children with vaginal atresia and Mayer-Rokitansky-Kuster-Hauser syndrome. The sigmoid segment was used for vaginoplasty in all the cases. Results: Eight children were studied over a period of 7 years. The postoperative complications were ileus in 2, mucosal prolapse of the neovagina in 1, and minor wound infection in 1 patient. Seven patients are on regular follow-up. All the neovaginas were patent and functional. One patient had unacceptable perineal appearance, that is, badly scarred perineum as a late complication. None of the patients had vaginal stenosis or excessive mucus discharge, during follow-up visits. Out of the 7 patients, 2 patients are sexually active and satisfied. Conclusions: Sigmoid vaginoplasty is a safe and acceptable procedure for vaginal agenesis with good cosmetic results and acceptable complications rate. Sigmoid colon vaginoplasty is the treatment of choice because of its large lumen, thick walls resistant to trauma, adequate secretion allowing lubrication, not necessitating prolonged dilatation, and short recovery time.

  19. Ambiguous genitalia in a fertile, unilaterally cryptorchid male miniature schnauzer dog.

    Science.gov (United States)

    Breshears, M A; Peters, J L

    2011-09-01

    A 7-year-old male miniature schnauzer dog with unilateral cryptorchidism was presented for elective orchiectomy. Surgery to remove the cryptorchid testis revealed a fully formed uterus with horns attached to both testis and the body and cervix terminating at the prostate gland. The gross and microscopic diagnosis for the genital tract was persistent Müllerian duct syndrome with unilateral cryptorchidism. Additional associated lesions included cystic endometrial hyperplasia and a solitary, intratubular seminoma within the undescended testis. Persistent Müllerian duct syndrome is rare among domestic animals but is more common in miniature schnauzer dogs because of inheritance as an autosomal recessive trait.

  20. Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

    Directory of Open Access Journals (Sweden)

    Manar Alwohaib

    2017-10-01

    Full Text Available Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis. The two cases had the final diagnosis of isolated bilateral congenital lacrimal gland agenesis and we document the clinical aspects, treatment and present a literature review related to this rare condition. Keywords: Alacrima, Lacrimal gland, Lacrimal gland agenesis, Punctal plugs

  1. Recurrence of acute myeloid leukemia in cryptorchid testis: case report

    International Nuclear Information System (INIS)

    Góes, Luccas Santos Patto de; Lopes, Roberto Iglesias; Campos, Octavio Henrique Arcos; Oliveira, Luiz Carlos Neves de; Sant'Anna, Alexandre Crippa; Dall'Oglio, Marcos Francisco; Srougi, Miguel

    2014-01-01

    A 23-year-old male with a history of bone marrow transplant for acute myeloid leukemia. He presented a large mass in the right inguinal region 5 years ago. Upon physical examination, right-sided cryptorchidism was observed. The tumor markers alpha-fetoprotein and beta-HCG were within normalcy range and lactate dehydrogenase was raised. Computed tomography of the abdomen and pelvis revealed right testicular mass in contiguity with the inguinal canal to the ipsilateral retroperitoneum, associated with right hydronephrosis. Due to the risk of germ-cell tumor in undescended testicle, the patient underwent radical right orchiectomy. The pathological examination showed recurrence of acute myeloid leukemia in the testis. He was referred to oncology for adjuvant therapy. Our literature review found no similar cases described

  2. Hormonal Aspects of the Pathogenesis and Treatment of Cryptorchidism

    DEFF Research Database (Denmark)

    Cortes, Dina; Holt, Rune; de Knegt, Victoria Elizabeth

    2016-01-01

    A normal functioning hypothalamic-pituitary-testicular axis is required for normal testicular descent. The percentage of cases that result from a disturbance in this axis remains controversial. Much has yet to be learnt about cryptorchidism, but is seems that the existence of A dark spermatogonia...... on testicular histology, gonadotropins, and inhibin B at the time of early surgery: Group 1, patients suspected of prepubertal transient hypothalamic-pituitary-testicular hypofunction and a high risk of later infertility; Group 2, patients with hypergonadotropic hypogonadism and a primary testicular dysfunction...... elevated, thereby supporting the suspicion of hypothalamic-pituitary-testicular hypofunction. Studies of GnRH-supplementary treatment should include testicular biopsy at surgery and at follow-up in childhood as well as examinations of fertility potential in adulthood....

  3. Disorders of sex development presenting as unilateral cryptorchidism

    DEFF Research Database (Denmark)

    Ostergren, Peter; Juul, Anders; Azawi, Nessn H

    2013-01-01

    Abstract Disorders of sex development (DSD) present in different forms but, in most cases, with visible anomalies of the external genitalia. The diagnosis of DSD can have a vast impact on an individual; in addition to concerns about fertility and a higher risk of neoplasia, it may have severe...... psychosocial impact on the patient. This report presents two apparently healthy cases referred for operation because of unilateral undescended testis. In these two patients, uterine remnants were found during the operation, and underlying DSD conditions were unexpectedly diagnosed. One patient had a 45,X/46,XY...... mosaic karyotype, while the second patient had persistent müllerian duct syndrome, probably due to an anti-müllerian hormone receptor defect. Both conditions are extremely rare, but the findings reinforce that DSD should be considered in patients with cryptorchidism, especially if other clinical signs...

  4. Recurrence of acute myeloid leukemia in cryptorchid testis: case report

    Energy Technology Data Exchange (ETDEWEB)

    Góes, Luccas Santos Patto de [Hospital do Servidor Público Municipal de São Paulo, São Paulo, SP (Brazil); Lopes, Roberto Iglesias [Hospital do Servidor Público Municipal de São Paulo, São Paulo, SP (Brazil); Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Campos, Octavio Henrique Arcos [Hospital do Servidor Público Municipal de São Paulo, São Paulo, SP (Brazil); Oliveira, Luiz Carlos Neves de; Sant' Anna, Alexandre Crippa; Dall' Oglio, Marcos Francisco; Srougi, Miguel [Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil)

    2014-07-01

    A 23-year-old male with a history of bone marrow transplant for acute myeloid leukemia. He presented a large mass in the right inguinal region 5 years ago. Upon physical examination, right-sided cryptorchidism was observed. The tumor markers alpha-fetoprotein and beta-HCG were within normalcy range and lactate dehydrogenase was raised. Computed tomography of the abdomen and pelvis revealed right testicular mass in contiguity with the inguinal canal to the ipsilateral retroperitoneum, associated with right hydronephrosis. Due to the risk of germ-cell tumor in undescended testicle, the patient underwent radical right orchiectomy. The pathological examination showed recurrence of acute myeloid leukemia in the testis. He was referred to oncology for adjuvant therapy. Our literature review found no similar cases described.

  5. MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis

    Directory of Open Access Journals (Sweden)

    Anna Dabkowska-Huc

    2013-01-01

    Full Text Available A combination of the congenital abnormalities, Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, is defined as the MURCS association. Various genetic defects have been described in the MURCS association so far, yet the unambiguous molecular basis of these disorders has not been established. We report the case of an 18-year-old woman who presented with primary amenorrhea, right kidney, Arnold-Chiari malformation, and Klippel-Feil syndrome. In addition, the patient showed the following unusual features: right ovarian and Skenes gland agenesis, cubitus valgus with hyperextension and decreased range of motion at elbows, and facial changes. Moreover, the performed DNA analysis showed interstitial duplication in chromosome 5 (5q35.1. In the duplicated region, there are genes whose function is not well known. It is thought that they have an influence on the early stages of development and their joining in the later period can lead to neoplastic disorders, especially leukemias.

  6. Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

    Science.gov (United States)

    Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

    2012-04-01

    To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  7. Flame retardants in placenta and breast milk and cryptorchidism in newborn boys

    DEFF Research Database (Denmark)

    Main, Katharina Maria; Kiviranta, Hannu; Virtanen, Helena Eeva

    2007-01-01

    of PBDEs in breast milk was significantly higher in boys with cryptorchidism than in controls (sum of BDEs 47, 153, 99, 100, 28, 66, and 154: median, 4.16 vs. 3.16 ng/g fat; p luteinizing hormone (p ..., 1997-2001, all boys were examined for cryptorchidism. We analyzed whole placentas (for 95 cryptorchid/185 healthy boys) and individual breast milk samples (62/68) for 14 PBDEs and infant serum samples for gonadotropins, sex-hormone binding globulin, testosterone, and inhibin B. RESULTS: In 86 placenta-milk...... pairs, placenta PBDE concentrations in fat were lower than in breast milk, and a larger number of congeners were nondetectable. There was no significant difference between boys with and without cryptorchidism for individual congeners, the sum of 5 most prevalent, or all 14 congeners. The concentration...

  8. Association between levels of persistent organic pollutants in adipose tissue and cryptorchidism in early childhood

    DEFF Research Database (Denmark)

    Koskenniemi, Jaakko J; Virtanen, Helena E; Kiviranta, Hannu

    2015-01-01

    play a role in its pathogenesis. We aimed to assess the association between cryptorchidism and prenatal exposure to polychlorinated biphenyls (PCBs), polychlorinated dibenzo-p-dioxins and furans (PCDD/Fs), and polybrominated diphenyl ethers (PBDEs). METHODS: We conducted a case-control study consisting...... of 44 cryptorchid cases, and 38 controls operated for inguinal hernia, umbilical hernia, or hydrocele at the Turku University Hospital or Rigshospitalet, Copenhagen in 2002-2006. During the operation a subcutaneous adipose tissue biopsy was taken. Samples were analysed for 37 PCBs, 17 PCDD/Fs and 14....... CONCLUSIONS: Prenatal exposure to PCDD/Fs and PCDD/F-like PCBs may be associated with increased risk for cryptorchidism. Our finding does not exclude the possibility of an association between the exposure to PBDEs and cryptorchidism....

  9. Cryptorchidism as part of the testicular dysgenesis syndrome: the environmental connection

    DEFF Research Database (Denmark)

    Main, K M; Skakkebaek, N E; Toppari, J

    2009-01-01

    Cryptorchidism is part of the testicular dysgenesis syndrome (TDS), which includes other male reproductive disorders such as hypospadias, testis cancer and reduced semen quality. These diseases appear to be linked by common pathogenic mechanisms, interfering with normal fetal testis development. ...... and maternal smoking during pregnancy also appeared to be a risk factor for cryptorchidism. Thus, current evidence suggests that the development of the male reproductive tract may be susceptible to adverse effects of environmental hormone disrupters....

  10. Agenesis of the corpus callosum and autism: a comprehensive comparison.

    Science.gov (United States)

    Paul, Lynn K; Corsello, Christina; Kennedy, Daniel P; Adolphs, Ralph

    2014-06-01

    The corpus callosum, with its ∼200 million axons, remains enigmatic in its contribution to cognition and behaviour. Agenesis of the corpus callosum is a congenital condition in which the corpus callosum fails to develop; such individuals exhibit localized deficits in non-literal language comprehension, humour, theory of mind and social reasoning. These findings together with parent reports suggest that behavioural and cognitive impairments in subjects with callosal agenesis may overlap with the profile of autism spectrum disorders, particularly with respect to impairments in social interaction and communication. To provide a comprehensive test of this hypothesis, we directly compared a group of 26 adults with callosal agenesis to a group of 28 adults with a diagnosis of autism spectrum disorder but no neurological abnormality. All participants had full-scale intelligence quotient scores >78 and groups were matched on age, handedness, and gender ratio. Using the Autism Diagnostic Observation Schedule together with current clinical presentation to assess autistic symptomatology, we found that 8/26 (about a third) of agenesis subjects presented with autism. However, more formal diagnosis additionally involving recollective parent-report measures regarding childhood behaviour showed that only 3/22 met complete formal criteria for an autism spectrum disorder (parent reports were unavailable for four subjects). We found no relationship between intelligence quotient and autism symptomatology in callosal agenesis, nor evidence that the presence of any residual corpus callosum differentiated those who exhibited current autism spectrum symptoms from those who did not. Relative to the autism spectrum comparison group, parent ratings of childhood behaviour indicated children with agenesis were less likely to meet diagnostic criteria for autism, even for those who met autism spectrum criteria as adults, and even though there was no group difference in parent report of current

  11. Renal manifestations in children with Alagille syndrome.

    Science.gov (United States)

    Di Pinto, Diana; Adragna, Marta

    2018-04-01

    Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic manifestations, and renal involvement is frequent. To describe the prevalence, type and outcome of renal pathology in children with AS. The presence and outcome of renal pathology was retrospectively studied in 21 children who met AS criteria. Renal pathology was observed in 18 patients (85.7%): (1) ultrasound variations in 7 patients (6 cases of bilateral renal dysplasia and 1 case of renal agenesis); (2) distal renal tubular acidosis in 2 patients; (3) a drop in glomerular filtration and/or proteinuria in 16 patients. The frequency of a drop in glomerular filtration was similar between patients with and without pathological kidney ultrasound findings. Our study confirms a high prevalence of renal involvement, which enhances the importance of diagnosis and renal function follow-up in children with AS. Sociedad Argentina de Pediatría.

  12. Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, J M; Beck, Bjarne Lomholdt

    1998-01-01

    Cryptorchidism is a feature of abnormalities in the hypothalamo-pituitary-testicular axis, and almost all disorders of sexual differentiation in which a testis is present. We found cryptorchidism to be associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10...... field defect. Study of cryptorchid patients exhibiting malformations or dysplasias of the kidneys, the ureters or the spine from T10 to S5 is essential in order to isolate new genetic disorders and to spot environmental factors causing cryptorchidism....

  13. Bilateral agenesis of the anterior cruciate ligament: MRI evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Bedoya, Maria A.; Jaramillo, Diego [The Children' s Hospital of Philadelphia, Radiology Department, Philadelphia, PA (United States); McGraw, Michael H. [Hospitalof theUniversityof Pennsylvania, Divisionof Orthopaedics, Philadelphia, PA (United States); Wells, Lawrence [The Children' s Hospital of Philadelphia, Division of Orthopaedics, Philadelphia, PA (United States)

    2014-09-15

    Bilateral agenesis of the anterior cruciate ligament (ACL) is extremely rare. We describe a 13-year-old girl who presented with bilateral knee pain without history of trauma; she has two family members with knee instability. Magnetic resonance imaging showed bilateral absence of the ACL, and medial posterior horn meniscal tears. Bilateral arthroscopic partial meniscectomy and anterior cruciate ligament reconstruction was performed. (orig.)

  14. Rare and Common Variants Conferring Risk of Tooth Agenesis

    DEFF Research Database (Denmark)

    Jonsson, L; Magnusson, T E; Thordarson, A

    2018-01-01

    We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously ...

  15. Mutations in PTF1A cause pancreatic and cerebellar agenesis

    NARCIS (Netherlands)

    Sellick, GS; Barker, KT; Stolte-Dijkstra, [No Value; Fleischmann, C; Coleman, RJ; Garrett, C; Gloyn, AL; Edghill, EL; Hattersley, AT; Wellauer, PK; Goodwin, G; Houlston, RS

    2004-01-01

    Individuals with permanent neonatal diabetes mellitus usually present within the first three months of life and require insulin treatment(1,2). We recently identified a locus on chromosome 10p13-p12.1 involved in permanent neonatal diabetes mellitus associated with pancreatic and cerebellar agenesis

  16. An inguinal hernia with cryptorchidism with a Leydig cell tumor in an elderly man: A case report

    Directory of Open Access Journals (Sweden)

    Toru Zuiki

    2017-01-01

    Conclusion: The combination of laparoscopic and anterior approaches facilitated the surgical treatment of an unusual inguinal hernia with cryptorchidism. The resected ectopic testis should undergo thorough histopathologic examination.

  17. Recovery rates of infants with cryptorchidism before 15 months of age

    Directory of Open Access Journals (Sweden)

    2014-01-01

    Full Text Available Background and objectives: Cryptorchidism or undescended testicle, with a prevalence of 33 percent in preterm and 3-5 percent in term infants, is the most common congenital abnormality in newborn boys. The present study aimed to assess the recovery rate and urinary tract infection among infants with cryptorchidism during the first 15 months of their life.         Methods: This cross-sectional descriptive study was conducted on 47 infants with cryptorchidism in Zahedan city (Iran in 2012. The infants’ birth weight, preterm/term birth, delivery method, and affected testicle along with maternal age, history of urinary tract infection during pregnancy, and number of pregnancies were collected. Information about the infants’ urinary tract infection and recovery from cryptorchidism was collected through observations and trimonthly phone calls until the 15th month after birth. Percentage and mean were used for data analysis. Results: Of the 47 studied infants, 63.82 percent were premature, 59.57 percent had right-side cryptorchidism, and 80.60 percent developed urinary tract infection at least once. The highest incidence of urinary tract infection (29.8 percent was seen at the age of three months old. The majority of infants (91.5 percent recovered during the course of the study and the recovery rate at the fifth, 10th, and 15th months were 31.9 percent, 38.3 percent and 21.3 percent,respectively. Conclusion: This study revealed the high prevalence of urinary tract infection among infants with cryptorchidism. It also showed that most infants with cryptorchidism recover within 15 months of age.

  18. Serum inhibin B, FSH, LH and testosterone levels before and after human chorionic gonadotropin stimulation in prepubertal boys with cryptorchidism

    DEFF Research Database (Denmark)

    Christiansen, P; Andersson, A-M; Skakkebaek, N E

    2002-01-01

    Several studies have indicated that cryptorchidism is associated with degenerative changes in both Sertoli cells and germ cells. The gonadal peptide hormone inhibin B reflects Sertoli cell function. Low inhibin B levels are found in a large portion of formerly cryptorchid men who show compromised...

  19. The diagnostic impact of testicular biopsies for intratubular germ cell neoplasia in cryptorchid boys and the subsequent risk of testicular cancer in men with prepubertal surgery for syndromic or non-syndromic cryptorchidism.

    Science.gov (United States)

    Osterballe, Lene; Clasen-Linde, Erik; Cortes, Dina; Engholm, Gerda; Hertzum-Larsen, Rasmus; Reinhardt, Susanne; Thorup, Jorgen

    2017-04-01

    Cryptorchidism is a risk factor for testicular cancer in adult life. It remains unclear how prepubertal surgery for cryptorchidism impacts later development of adult testicular cancer. The aim of study was to investigate tools to identify the cryptorchid boys who later develop testicular cancer. The study cohort consisted of 1403 men operated prepubertally/pubertally for undescended testis between 1971 and 2003. At surgery testicular biopsies were taken from the cryptorchid testes. The boys were followed for occurrence of testicular cancer. The testicular cancer risk was compared to the risk in the Danish Population. Testicular biopsies from the boys who developed testicular cancer during follow-up underwent histological examination with specific diagnostic immunohistochemical markers for germ cell neoplasia. The cohort was followed for 33,627 person years at risk. We identified 16 cases with testicular cancer in adulthood. The standardized incidence ratio was 2.66 (95% CI: 1.52-4.32). At time of primary surgery in prepubertal/pubertal age Intratubular Germ Cell Neoplasia (ITGCN) was diagnosed in 5 cases and the boys were unilaterally orchiectomized. At follow-up new immunohistochemical staining indicated ITGCN in two of the 16 cancer cases at reevaluation of the original biopsies from time of prepubertal/pubertal surgery. One had syndromic cryptorchid and developed seminoma, and another showed nonsyndromic cryptorchidism and developed embryonic teratocarcinoma. Totally, ITGCN was diagnosed in 0.5% (7/1403) of prepubertal cryptorchid boys, whereof 57% (4/7) in syndromic-cryptorchidism. ITGCN is predominantly observed prepubertally in boys with syndromic-cryptorchidism. In nonsyndromic cryptorchidism testicular cancer develops postpubertally, generally not based on dormant germ cells of ITGCN caused by an early fetal maldevelopment. LEVEL I. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Risk of cryptorchidism among sons of horticultural workers and farmers in Denmark

    DEFF Research Database (Denmark)

    Jørgensen, Kristian Tore; Jensen, Morten Søndergaard; Toft, Gunnar Vase

    2014-01-01

    on occupation and cryptorchidism. METHODS: The cohort consisted of >600 000 boys born in Denmark from 1980-2007 with a parent in employment during pregnancy. These boys were followed for cryptorchidism from 1980-2009 comparing risks among sons of horticultural workers and farmers with sons of parents in other...... occupations. Hazard ratios (HR) and 95% confidence intervals (95% CI) were estimated using Cox regression adjusting for parental age, birth years, parity, and geographical region. RESULTS: Sons of maternal farmers were at increased risk of cryptorchidism (157 cases; HR 1.31, 95% CI 1.12-1.53) compared to boys...... of mothers in other occupations (15 511 cases). Paternal occupation as farmer was unrelated to the risk among sons. Maternal occupation as a horticultural worker was associated with a non-significantly increased risk (72 cases; HR 1.20, 95% CI 0.95-1.52). A similar association was found for paternal...

  1. Cryptorchidism and hypospadias as a sign of testicular dysgenesis syndrome (TDS): environmental connection

    DEFF Research Database (Denmark)

    Toppari, Jorma; Virtanen, Helena E; Main, Katharina M

    2010-01-01

    . A monogenic reason for cryptorchidism or hypospadias has been identified only in a small proportion of all cases. Environmental effects appear to play a major role in TDS. Exposure to several persistent chemicals has been found to be associated with the risk of cryptorchidism, and exposure to anti......-androgenic phthalates has been shown to be associated with hormonal changes predisposing to male reproductive problems. Despite progress in identification of endocrine-disrupting substances, we are still far from knowing all the risk factors for these birth defects, and advice for prevention must be based......Cryptorchidism and hypospadias are common genital birth defects that affect 2-9% and 0.2-1% of male newborns, respectively. The incidence of both defects shows large geographic variation, and in several countries increasing trends have been reported. The conditions share many risk factors...

  2. Dental anomalies in an orthodontic patient population with maxillary lateral incisor agenesis.

    Science.gov (United States)

    Citak, Mehmet; Cakici, Elif Bahar; Benkli, Yasin Atakan; Cakici, Fatih; Bektas, Bircan; Buyuk, Suleyman Kutalmış

    2016-01-01

    The purpose of this study was to evaluate the prevalence of dental anomalies in a subpopulation of orthodontic patients with agenesis of maxillary lateral incisors (MLI). The material of the present study included the records of the 1964 orthodontic patients. Panoramic radiographs and dental casts were used to analyze other associated eight dental anomalies, including agenesis of other teeth, dens invaginatus, dens evaginatus, peg shaped MLI, taurodontism, pulp stone, root dilaceration and maxillary canine impaction. Out of the 1964 patients examined, 90 were found to have agenesis of MLI, representing a prevalence of 4.6%. The most commonly found associated-anomalies were agenesis of other teeth (23.3%), peg-shaped MLIs (15.6%), taurodontism (42.2%), and dilacerated teeth (18.9%). Permanent tooth agenesis, taurodontism, peg-shaped maxillary lateral incisor, and root dilacerations are frequently associated with maxillary lateral incisor agenesis.

  3. Agenesis of the dorsal pancreas: a rare cause of insulin-dependent diabetes without abdominal pain: Case report.

    Science.gov (United States)

    Liang, Kaiyong; Ou, Xiaojuan; Huang, Xukai; Lan, Qunfang

    2018-03-01

    Agenesis of the dorsal pancreas is a very rare condition with an unknown pathology and etiology, although it may be associated with autosomal dominant or X-linked dominant inheritance or retinoic acid and hedgehog signaling pathway alterations. This condition usually manifests with abdominal pain or pancreatitis, although some cases are asymptomatic. Approximately 50% of affected patients with this disorder present with hyperglycemia or various other anomalies. We report the case of a 23-year-old Chinese woman who visited the Department of Endocrinology and Metabolism with insulin-dependent diabetes but no specific symptoms, signs, or other deformities. Severe diabetic retinopathy indicated a long period of hyperglycemia. Agenesis of the dorsal pancreas was observed incidentally during the common diagnosis of diabetes, and the diagnosis was established using magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance cholangiopancreatography. Following the diagnosis of diabetes, insulin replacement therapy was initiated at a dosage of up to 45 U per day. The patient's blood glucose level was monitored, and the insulin dosage was adjusted accordingly. The patient's blood glucose levels gradually normalized after insulin treatment and were subsequently maintained with intensive insulin therapy. Treatment for diabetic retinopathy was provided by the Ophthalmology Department. Agenesis of the dorsal pancreas should be considered in a young patient diagnosed with diabetes who presents with obvious diabetes-related complications (e.g., renal, retinal, or neurological) inconsistent with the course of the disease or a history of other congenital anomalies. We recommend the routine use of computed tomography or magnetic resonance imaging when examining young patients with diabetes.

  4. Corpus callosum agenesis: Role of fetal magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Achour Radhouane

    2016-05-01

    Full Text Available Corpus callosum agenesis (CCA was evaluated by ultrasound examination and magnetic resonance imaging (MRI with many studies. Ultrasonography was able to suspect CCA by indirect signs but a definitive diagnosis of CCA was achieved in rare cases. MRI was able to diagnose complete CCA in majority of cases. Additional neurological abnormalities including heterotopia, gyration anomaly, asymmetry of the cerebral hemispheres, and Dandy-Walker variant were documented, as well as an ocular anomaly which was described, by MRI examination. Prenatal counseling for fetal agenesis of the corpus callosum is difficult as the prognosis is uncertain. The association with other cerebral abnormalities increases the likelihood of a poor outcome and ultrasonographic assessment of the fetal brain is limited. We found MRI to be a safe and useful additional procedure to complement ultrasonographic diagnosis or suspicion of CCA.

  5. Impaired serum inhibin-B and number of germ cells in boys with cryptorchidism following heavily gestational maternal smoking

    DEFF Research Database (Denmark)

    Hildorf, Simone; Clasen-Linde, Erik; Dong, Lihua

    2018-01-01

    heavily (>10 cigarettes/day) during pregnancy with age matched cryptorchid controls of nonsmoking mothers (1:6). We studied: birthweight, germ-cell number/tubular cross section, frequency of germ cells positive for placental-like alkaline phosphatase (PLAP), gonadotropins and inhibin-B. RESULTS: 501 boys...... were sons of nonsmokers, 72 boys of intermittent smokers and 28 boys of heavy smokers. 39%, 44% and 61% respectively had bilateral cryptorchidism. Compared to age-matched cryptorchid controls of nonsmoking mothers, sons of heavy smokers had lower birthweight (p = 0.006), germ-cell number/tubular cross...... could add detailed knowledge to the impact of maternal gestational smoking on pathogenesis of cryptorchidism. METHODS: 601 cryptorchid boys aged 4 months to 14 years old were included. Because normal hormones have a pronounced age dependency, we compared results from boys whose mothers had smoked...

  6. Does the cranial suspensory ligament have a role in cryptorchidism?

    Science.gov (United States)

    Kassim, Normadiah M; Russell, D A; Payne, A P

    2010-01-01

    The cranial suspensory ligament (CSL) is a fibromuscular structure anchoring the embryonic gonad to the posterior abdominal wall in male and female mammals. Its persistence in females is believed to be responsible for retaining the ovaries within the abdomen, while its regression in males permits testis descent. Embryonic loss of the CSL in males is believed to be an androgen-dependent event, and failure of this process has been proposed as a cause of cryptorchidism. The present study demonstrates that the nuclei of mesenchymal cells in the caudal part of the CSL are immunoreactively positive for androgen receptor. We examined the effects of exposure of the non-steroidal antiandrogen flutamide during the period from gestational day 10 to birth on the development of the CSL and on testis descent. Exposure of male Albino Swiss rats to the antiandrogen flutamide during this period resulted in feminization of the external genitalia and the suppression of growth of the testes and male reproductive tracts. In adulthood, testes were found to be located in diverse positions including normal scrotal (50%), intra-abdominal (10%) and ectopic suprainguinal (40%). The CSL of the testis persisted into adulthood in all flutamide-treated males, regardless of testis location. In all cases, the ligament consisted of bundles of smooth muscle fibres in the retroperitoneal fat of the posterior abdominal wall. These findings suggest that androgen blockade during embryonic development interferes with testicular descent, but that maldescent cannot be correlated with either the persistence of the CSL of the testis or its structure.

  7. Tooth agenesis: from molecular genetics to molecular dentistry

    Czech Academy of Sciences Publication Activity Database

    Matalová, Eva; Fleischmannová, Jana; Sharpe, P. T.; Tucker, A. S.

    2008-01-01

    Roč. 87, č. 7 (2008), s. 617-623 ISSN 0022-0345 R&D Projects: GA AV ČR KJB500450802; GA MŠk OC B23.001; GA ČR GC524/08/J032 Institutional research plan: CEZ:AV0Z50450515 Keywords : tooth agenesis Subject RIV: FF - HEENT, Dentistry Impact factor: 3.142, year: 2008

  8. A case of total agenesis of the corpus callosum

    International Nuclear Information System (INIS)

    Sakamoto, Masanobu; Takeda, Katsuhiko; Bandou, Mitsuaki; Murayama, Shigeo; Sakuta, Manabu

    1985-01-01

    We have reported a case of agenesis of the corpus callosum, in which NMR-CT revealed a complete defect of it, and have examined the localization of the speech center of this patient. The patient is a right-handed 26-year-old man who has complained of headache on the parietal region. His neurological examination revealed only a mild mental difficulty (IQ 77). X-ray CT showed the lateral ventricles to be separated widely and the posterior horns dilated, which were compatible with the agenesis of the corpus callosum. Further, NMR-CT has revealed a total agenesis of the corpus callosum. NMR-CT seems to be highly useful for the detection of the degree of the callosal defect. We have carried out the intracarotid amobarbital injection (Wada's test) for the determination of the lateralization of cerebral speech dominance. It had been reported by some authors that when it comes to the cerebral speech dominance, acallosal patients had no difference between each hemisphere. However, our results have demonstrated a left sided dominance. (author)

  9. Lifestyle in pregnancy and cryptorchidism in sons: a study within two large Danish birth cohorts

    Directory of Open Access Journals (Sweden)

    Kjersgaard C

    2018-03-01

    Full Text Available Camilla Kjersgaard,1 Linn Håkonsen Arendt,1,2 Andreas Ernst,1 Morten Søndergaard Lindhard,2 Jørn Olsen,1,3 Tine Brink Henriksen,2 Katrine Strandberg-Larsen,4 Cecilia Høst Ramlau-Hansen1 1Department of Public Health, Section for Epidemiology, Aarhus University, Aarhus, 2Perinatal Epidemiology Research Unit, Department of Pediatrics, Aarhus University Hospital, Aarhus, 3Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, 4Department of Public Health, Section of Social Medicine, Copenhagen University, Copenhagen, Denmark Purpose: Cryptorchidism is the most frequent congenital malformation in boys and is associated with low sperm count, infertility and testicular cancer. Unhealthy maternal lifestyle during pregnancy such as smoking, high prepregnancy body mass index (BMI as well as alcohol and caffeine intake may constitute possible risk factors for cryptorchidism, but results from the few previous studies are conflicting. We aimed to explore the association between maternal lifestyle factors and occurrence of cryptorchidism in sons.Patients and methods: The Danish National Birth Cohort and the Aarhus Birth Cohort provided information on maternal lifestyle from early pregnancy. Data were linked to several Danish health registers, multiple imputation was used to handle missing data and Cox proportional hazards models were used to adjust for potential confounders.Results: In total, 85,923 boys were included, and of them, 2.2% were diagnosed with cryptorchidism. We observed the strongest associations between maternal tobacco smoking and prepregnancy BMI and cryptorchidism. Sons of women who smoked 10–14 cigarettes/day had the highest hazard ratio (HR for cryptorchidism (1.37; 95% CI: 1.06–1.76, and for maternal BMI ≥30 kg/m2, the HR was 1.32 (95% CI: 1.06–1.65. Binge drinking was associated with an HR <1, if the women had one or two episodes in pregnancy (HR: 0.81; 95% CI: 0.67–0.98. Average maternal alcohol intake

  10. The risk of cryptorchidism among sons of women working in horticulture in Denmark: a cohort study.

    Science.gov (United States)

    Gabel, Pernille; Jensen, Morten Søndergaard; Andersen, Helle Raun; Baelum, Jesper; Thulstrup, Ane Marie; Bonde, Jens Peter; Toft, Gunnar

    2011-11-14

    Androgens are crucial for normal testicular descent. Studies show that some pesticides have estrogenic or antiandrogenic effects, and that female workers exposed to pesticides have increased risk of having a boy with cryptorchidism. The main objective of the present study was to investigate whether pregnant women exposed to pesticides due to their work in horticulture experience excess risk of having sons with cryptorchidism. We conducted a cohort study of pregnant women working in horticulture using four cohorts including one cohort established with data from the departments of occupational medicine in Jutland and Funen and three existing mother-child cohorts (n=1,468). A reference group was established from the entire Danish population of boys born in the period of 1986-2007 (n=783,817). Nationwide Danish health registers provided information on birth outcome, cryptorchidism diagnosis and orchiopexy. The level of occupational exposure to pesticides was assessed by expert judgment blinded towards outcome status. Risk of cryptorchidism among exposed horticulture workers compared to the background population and to unexposed horticulture workers was assessed by Cox regression models. Pesticide exposed women employed in horticulture had a hazard ratio (HR) of having cryptorchid sons of 1.39 (95% CI 0.84; 2.31) and a HR of orchiopexy of 1.34 (0.72; 2.49) compared to the background population. Analysis divided into separate cohorts revealed a significantly increased risk of cryptorchidism in cohort 2: HR 2.58 (1.07;6.20) and increased risk of orchiopexy in cohort 4: HR 2.76 (1.03;7.35), but no significant associations in the other cohorts. Compared to unexposed women working in horticulture, pesticide exposed women had a risk of having sons with cryptorchidism of 1.34 (0.30; 5.96) and of orchiopexy of 1.93 (0.24;15.4). The data are compatible with a slightly increased risk of cryptorchidism in sons of women exposed to pesticides by working in horticulture.

  11. Hypohyperdontia: Agenesis of three third molars and mandibular centrals associated with midline supernumerary tooth in mandible

    Directory of Open Access Journals (Sweden)

    Sivakumar Nuvvula

    2010-01-01

    Full Text Available Agenesis of teeth in a patient who also presents with a supernumerary tooth is one of the rare numerical anomalies in human dentition. Agenesis of third molars was shown to be associated with other missing permanent teeth. A review of literature on hypodontia including third molar agenesis, hyperdontia and a concomitant presence of these two conditions which is termed as hypohyperdontia is presented along with a case showing agenesis of three third molars, both mandibular central incisors and a midline supernumerary tooth.

  12. Patterns of third-molar agenesis and associated dental anomalies in an orthodontic population.

    Science.gov (United States)

    Celikoglu, Mevlut; Bayram, Mehmet; Nur, Metin

    2011-12-01

    The aim of this study was to investigate the frequency of dental anomalies in orthodontic patients with different patterns of third-molar agenesis, comparing them with patients without third-molar agenesis. A sample of 374 patients with agenesis of at least 1 third molar was divided into 4 groups according to the third-molar agenesis pattern, and a control group of 98 patients without third-molar agenesis was randomly selected from the patient archives. Panoramic radiographs and cast models were used to determine the associated dental anomalies, such as hypodontia, hyperdontia, impaction, dilaceration, microdontia, ectopic eruption, transposition, and transmigration. The Pearson chi-square and Fisher exact tests were used to determine the differences in the distribution of the associated dental anomalies among the groups. The prevalence of agenesis of other teeth (11.2%, n = 42) was significantly greater in our study sample (groups 1-4) than in the control group (group 5) (4.1%, n = 4; P dental anomalies in patients with agenesis of 3 and 4 third molars compared with the control group. Permanent tooth agenesis, microdontia of maxillary lateral incisors, and total dental anomalies are more frequently associated with agenesis of 4 third molars than with the presence of third molars. Copyright © 2011 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  13. The role of Msx1 and Pax9 in pathogenetic mechanisms of tooth agenesis

    Directory of Open Access Journals (Sweden)

    Yani Corvianindya Rahayu

    2009-09-01

    Full Text Available Background: Tooth agenesis is one of the most common developmental anomalies in human, which one or a few teeth are absent because they have never formed, may cause cosmetic or occlusal harm, while severe agenesis which are relatively rare require clinical attention to support and maintain the dental function. Molecular studies have demonstrated that tooth development is under strict genetic control. Purpose: This article want to review the genetic regulating that are responsible for tooth agenesis especially the role of Msx1 and Pax9 in pathogenetic mechanisms of tooth agenesis. Review: Tooth agenesis is a consequence of a qualitatively or quantitatively impaired function of genetic networks, which regulate tooth development. Mutations in Msx1 and Pax9 genes are dominant for tooth agenesis in humans. The Pax9 gene, which codes for a paired domain-containing transcription factor that plays an essential role in the development of mammal dentition, has been associated with selective tooth agenesis in humans and mice. Conclusion: Reduced amount of functional Msx1 or Pax9 protein in the tooth forming cells is able to cause severe and selective tooth agenesis. There are differences in the frequency of agenesis of specific teeth associated with the defects in Msx1 and defects in Pax9.

  14. Expression of β-nerve growth factor and homeobox A10 in experimental cryptorchidism treated with exogenous nerve growth factor.

    Science.gov (United States)

    Xian, Hua; Xian, Yun; Liu, Lili; Wang, Yongjun; He, Jianghong; Huang, Jianfei

    2015-04-01

    With the exception of standard inguinal orchidopexy, treatment of cryptorchidism with human chorionic gonadotropin has been performed for several years; however, its side effects have limited its application. The β‑nerve growth factor (NGF) and homeobox A10 (HoxA10) genes are closely associated with the development of the testes. To the best of our knowledge, whether exogenous NGF alters the endogenous levels of NGF and HoxA10 in cryptorchidism in rats remains to be elucidated. The aim of the present study was to evaluate the gene and protein expression of NGF and HoxA10 in experimental cryptorchidism following treatment with exogenous NGF. A unilateral mechanical cryptorchidism model in Sprague-Dawley rats was established and different concentrations of exogenous NGF were administered to observe the effects of NGF on cryptorchidism. Changes in the gene and protein expression levels of NGF and HoxA10 in the cryptorchid tissues of each group were identified using one step reverse transcription-quantitative polymerase chain reaction, in situ hybridization with digoxigenin‑labeled‑β‑NGF RNA probes, immunofluorescence and immunohistochemistry, respectively. The expression levels of NGF and HoxA10 were markedly higher in the group treated with a high dose of exogenous NGF compared with the group treated with a low dose of exogenous NGF and the group treated with human chorionic gonadotropin. These results confirmed the potential therapeutic effect of exogenous NGF in human cryptorchidism.

  15. Long-term cultures of testicular biopsies from boys with cryptorchidism

    DEFF Research Database (Denmark)

    Larsen, Hans-Peter Ejler; Thorup, Jørgen; Skovgaard, Lene Theil

    2002-01-01

    BACKGROUND: A long-term culture system of testicular biopsies from boys with undescended testes was established to evaluate the effect of gonadotrophins on germ cell survival and growth. METHODS: Biopsies from 25 boys with cryptorchidism, aged 1.1-9.9 years, were obtained at the time of surgery. ...

  16. Erythropoietin may reduce the risk of germ cell loss in boys with cryptorchidism

    DEFF Research Database (Denmark)

    Cortes, Dina; Visfeldt, J; Thorup, J M

    2001-01-01

    In boys with cryptorchidism older than 2 years a testicular biopsy at time of orchiopexy shows lack of germ cells in 10-40% of the cases. The number of spermatogonia per tubule is prognostic for subsequent fertility potential. A biopsy without germ cells is associated with 33-100% risk of inferti...

  17. Cryptorchidism and hypospadias as a sign of testicular dysgenesis syndrome (TDS): environmental connection

    DEFF Research Database (Denmark)

    Toppari, Jorma; Virtanen, Helena E; Main, Katharina M

    2010-01-01

    Cryptorchidism and hypospadias are common genital birth defects that affect 2-9% and 0.2-1% of male newborns, respectively. The incidence of both defects shows large geographic variation, and in several countries increasing trends have been reported. The conditions share many risk factors, and th...

  18. Trino IB ameliorates the oxidative stress of cryptorchidism in the rat ...

    African Journals Online (AJOL)

    The study examined the effect of Trino IB, a mixture of oleuropein and -lipoic acid, on the plasma concentration of g-glutamyl transpeptidase (GGT), malondialdehyde (MDA), sperm count and apoptotic degeneration of testicular germ cells in experimentally induced cryptorchidism in adult male rats. Oral administration of ...

  19. A NOTE ON CRYPTORCHIDISM IN ANGORA GOATS J.D. skinner ...

    African Journals Online (AJOL)

    the reproductive tracts disected out and compared mor- phologically, histologically and histochemically as described by Skinner and Rowson ( 1968). The 30 farmers who replied to the questionnaire lrad a total of 7945 rams in their flock in 1970. Only ttree farmers reported no cryptorchids and the average percentage was | ...

  20. Involvement of insulin-like factor 3 (Insl3) in diethylstilbestrol-induced cryptorchidism

    NARCIS (Netherlands)

    J.M.A. Emmen (Judith); A. McLuskey; I.M. Adham; W. Engel; M. Verhoef-Post (Miriam); A.P.N. Themmen (Axel); J.A. Grootegoed (Anton); A.O. Brinkmann (Albert)

    2000-01-01

    textabstractRecently, it has been shown that targeted inactivation of the Insl3 gene in male mice results in cryptorchidism. The Insl3 gene encodes insulin-like factor 3 (Insl3), which is expressed in fetal Leydig cells. The testicular factor Insl3 appears to play an

  1. Does asymptomatic septal agenesis exist? A review of 34 cases

    Energy Technology Data Exchange (ETDEWEB)

    Belhocine, Ouardia; Andre, Christine; Kalifa, Gabriel; Adamsbaum, Catherine [St Vincent de Paul Hospital, Radiology Department, Paris (France)

    2005-04-01

    Primary septal agenesis (PSA) is a rare brain malformation that can be isolated or part of developmental brain abnormalities (holoprosencephaly, septo-optic dysplasia or cortical malformation). Such associated malformation can be subtle, leading to difficulties in the prenatal management of PSA. Moreover, the neurological prognosis of isolated PSA remains debatable. The aims of the study were to specify the patterns and frequency of brain malformations associated with septal agenesis (SA), to identify the clinical prognosis, and to discuss the aetiology of PSA with the new insights provided by molecular genetics. The study consisted of a 14-year retrospective review of brain MRI in 34 patients having PSA (mean age, 5 years). Chiasm and optic nerves were not evaluated. Post-hydrocephalus SA or incomplete data were excluded. The clinical data were correlated to the MRI patterns. The study disclosed 82.5% associated lesions with MRI (28/34): 11 neuronal migration disorders, 9 holoprosencephalies (HP), 7 pituitary stalk interruptions, 1 corpus callosum partial agenesis; 17.5% (6/34) of cases were apparently isolated PAS. Clinically, the patients had motor dysfunction in 68% (23/34), mental retardation in 65% (22/34), blindness in 24% (8/34), endocrinological defects in 21% (7/34) and epilepsy in 18% (6/34) of cases. Nine percent of patients (3/34) were neurologically normal (including one with scoliosis and two infants younger than 2 years at the last follow-up). Patients with bilateral cortical anomalies and HP (even if mild) had the worst neurological prognosis. A severe motor impairment was present without evidence of hemispheric anomaly in 12% of patients (4/34). Interestingly, the frontal lobes were involved in 90% of cortical anomalies and HP, supporting the malformative aetiology of PSA. PSA rarely appears isolated and severe psychomotor impairment may occur in apparently isolated forms. These unfavourable results should be highlighted and need to be confirmed

  2. Prevalence of Third Molar Agenesis: Associated Dental Anomalies in Non-Syndromic 5923 Patients.

    Science.gov (United States)

    Sujon, Mamun Khan; Alam, Mohammad Khursheed; Rahman, Shaifulizan Abdul

    2016-01-01

    The aim of this study was to investigate the prevalence of third molar agenesis and other associated dental anomalies in Bangladeshi population and to investigate the relationship of other dental anomalies with the third molar presence/agenesis. A retrospective study was performed using panoramic radiographs of 5923 patients, who ranged in age from 10 to 50 years. All radiographs were analyzed by Planmeca Romexis® 3.0 software (Planmeca Oy, Helsinki, Finland). Pearson chi-square and one way ANOVA (Post Hoc) test were conducted. The prevalence of third molar agenesis was 38.4%. The frequency of third molar agenesis was significantly higher in females than males (p dental anomalies was 6.5%, among them hypodontia was 3.1%. Prevalence of third molar agenesis varies in different geographic region. Among the other dental anomalies hypodontia was more prevalent.

  3. Agenesis of the dorsal mesentery presenting in an adolescent

    Directory of Open Access Journals (Sweden)

    Anith Chacko

    2013-03-01

    Full Text Available Agenesis of the dorsal mesentery is a rare occurrence that usually presents in children. It is associated with proximal small bowel malrotation as well as high jejunal atresia with discontinuity of the small bowel. We present a case report of an adolescent presenting with clinical features of proximal small bowel obstruction (confirmed on imaging as well as acute pancreatitis. At laparotomy, he was found to have no dorsal mesentery, without small bowel atresia, and the duodenum was fixed to the posterior abdominal wall. The patient recovered well and remained symptom-free.

  4. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  5. The diagnostic impact of testicular biopsies for intratubular germ cell neoplasia in cryptorchid boys and the subsequent risk of testicular cancer in men with prepubertal surgery for syndromic or non-syndromic cryptorchidism

    DEFF Research Database (Denmark)

    Osterballe, Lene; Clasen-Linde, Erik; Cortes, Dina

    2017-01-01

    INTRODUCTION: Cryptorchidism is a risk factor for testicular cancer in adult life. It remains unclear how prepubertal surgery for cryptorchidism impacts later development of adult testicular cancer. The aim of study was to investigate tools to identify the cryptorchid boys who later develop...... testicular cancer. METHODS: The study cohort consisted of 1403 men operated prepubertally/pubertally for undescended testis between 1971 and 2003. At surgery testicular biopsies were taken from the cryptorchid testes. The boys were followed for occurrence of testicular cancer. The testicular cancer risk...... was compared to the risk in the Danish Population. Testicular biopsies from the boys who developed testicular cancer during follow-up underwent histological examination with specific diagnostic immunohistochemical markers for germ cell neoplasia. RESULTS: The cohort was followed for 33,627 person years at risk...

  6. Multivariate analysis of factors affecting presence and/or agenesis of third molar tooth.

    Directory of Open Access Journals (Sweden)

    Mohammad Khursheed Alam

    Full Text Available To investigate the presence and/or agenesis of third molar (M3 tooth germs in orthodontics patients in Malaysian Malay and Chinese population and evaluate the relationship between presence and/or agenesis of M3 with different skeletal malocclusion patterns and sagittal maxillomandibular jaw dimensions. Pretreatment records of 300 orthodontic patients (140 males and 160 females, 219 Malaysian Malay and 81 Chinese, average age was 16.27±4.59 were used. Third-molar agenesis was calculated with respect to race, genders, number of missing teeth, jaws, skeletal malocclusion patterns and sagittal maxillomandibular jaw dimensions. The Pearson chi-square test and ANOVA was performed to determine potential differences. Associations between various factors and M3 presence/agenesis groups were assessed using logistic regression analysis. The percentages of subjects with 1 or more M3 agenesis were 30%, 33% and 31% in the Malaysian Malay, Chinese and total population, respectively. Overall prevalence of M3 agenesis in male and female was equal (P>0.05. The frequency of the agenesis of M3s is greater in maxilla as well in the right side (P>0.05. The prevalence of M3 agenesis in those with a Class III and Class II malocclusion was relatively higher in Malaysian Malay and Malaysian Chinese population respectively. Using stepwise regression analyses, significant associations were found between Mx (P<0.05 and ANB (P<0.05 and M3 agenesis. This multivariate analysis suggested that Mx and ANB were significantly correlated with the M3 presence/agenesis.

  7. Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies

    KAUST Repository

    Cannistraci, Carlo; Ogorevc, Jernej; Zorc, Minja; Ravasi, Timothy; Dovc, Peter; Kunej, Tanja

    2013-01-01

    genetic factors and molecular pathways underlying testis descent. Methods. Literature mining was performed to collect genomic loci associated with cryptorchidism in seven mammalian species. Information regarding the collected candidate genes was stored

  8. The Prevalence of Palmaris longus agenesis among the Ghanaian population

    Directory of Open Access Journals (Sweden)

    Osonuga A

    2012-10-01

    Full Text Available Objective: Background: Studies have documented the agenesis of Palmaris longus muscle in different populations but none has included the Ghanaian population. Methods: The study involved 226 subjects (130 females and 96 males who are students of the University of Cape Coast, Cape Coast, Ghana. The presence of the PLM was clinically determined using the Schaeffer’s test. Subjects in which the tendon was not visualized or palpable, two other tests were performed to confirm the absence. Results: The total prevalence of absence of PLM was 3.1%; absence on the left hand was commoner than on the right hand. The frequency of PLM absence was also slightly higher in females than in males representing 1.8% and 1.3% respectively. One female had the PLM absent bilaterally whiles a male subject had a trifid tendon on the right forearm with a bifid on the left. Conclusion: The prevalence of PLM agenesis in the Ghanaian population is lower compared to values coated in standard textbook on surgery. PLM is not diminishing as fast as observed in some population hence it is can be readily used as donor tendon by Ghanaian surgeons.

  9. Testicular volume and masculine identity in men with unilateral cryptorchidism: results of a community-based survey in Korea.

    Science.gov (United States)

    Ku, Ja Hyeon; Kim, Min Eui; Lee, Nam Kyu; Park, Young Ho

    2003-10-01

    We determined the influence of cryptorchidism on testicular volume and masculine identity in young men living in a community. Of the 27,202 men aged 20 years dwelling in the community, we randomly selected a 10% sampling fraction of whom 2,080 men (a response rate of 77.0%) agreed to participate in the study. All volunteers underwent a standard evaluation, including a detailed medical history and physical examination. For the evaluation of the influence of cryptorchidism on masculine identity, we used the Bem Sex Role Inventory (BSRI). Among participants, 38 (1.8%) had cryptorchidism or a history of surgery for cryptorchidism (right 15, left 21, bilateral 2). In total, 29 had had undergone surgery (mean age at the time of operation; 8.9+/-3.9 years, range; 2-19 years). Of 25 men who had undergone orchiopexy due to unilateral cryptorchidism, the testicular volume of the affected side was significantly smaller than that of the contralateral side. Of the 36 patients with unilateral cryptorchidism, the contralateral testicular volume of men who had undergone orchiopexy was not different with that of those who had undergone orchiectomy or had not undergone surgery. When we compared the scores for masculinity and femininity using the BSRI between men with and without testis in the scrotum, there were no differences between the two groups. Our results demonstrate that delayed orchiopexy does not improve the testicular volume of the affected side or the masculine identity in men with unilateral cryptorchidism. In addition, these findings suggest that there is a need to increase the awareness of cryptorchidism among all parties involved in the health care of children.

  10. Computed Tomographic Features in a case of Bilateral Neoplastic Cryptorchidism with Suspected Torsion in a Dog

    Directory of Open Access Journals (Sweden)

    Scott eStokowski

    2016-04-01

    Full Text Available An 11-year-old male German Shepherd dog presented for inappetence and weight loss. Physical examination and initial bloodwork revealed palpable abdominal masses, mild non-regenerative anemia and thrombocytopenia. Survey radiography and abdominal ultrasonography confirmed the presence of bilateral abdominal masses and lymphadenopathy. Contrast-enhanced computed tomography (CT was performed in order to further investigate the origin of the intraabdominal masses, confirming two enlarged cryptorchid testes, one of which had an associated CT whirl sign. Histopathology of the testes and lymph nodes revealed bilateral malignant Sertoli cell tumors and seminomas with lymph node metastasis of both neoplasms. The purpose of this case report is to discuss the benefits of CT in the diagnosis of cryptorchid testes and describe an additional organ that may display CT whirl sign.

  11. Associations between congenital cryptorchidism in newborn boys and levels of dioxins and PCBs in placenta

    DEFF Research Database (Denmark)

    Virtanen, H E; Koskenniemi, J J; Sundqvist, E

    2012-01-01

    In animal studies, exposure to dioxins has been associated with disrupted development of the male reproductive system, including testicular maldescent. Some polychlorinated biphenyls (PCBs) have also dioxin-like effects. In addition, one previous case-control study has reported an association...... between congenital cryptorchidism and colostrum PCB levels. We performed a case-control study to evaluate whether congenital cryptorchidism in boys was associated with increased levels of dioxins or PCBs in placenta reflecting foetal exposure. In addition, associations between placenta levels...... controls) and 168 Danish (39 cases, 129 controls)] were analysed for 17 toxic polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/Fs) and 37 PCBs (including 12 dioxin-like PCBs). Infant serum samples taken at 3 months were analysed for reproductive hormones. No significant differences between cases...

  12. MRI findings of type II sacral agenesis: A case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang A; Kim, Myung Soon; Kwon, Woo Cheol [Dept. of Radiology, Yonsei University Wonju College of Medicine, Wonju Severance Christian Hospital, Wonju (Korea, Republic of)

    2016-07-15

    Sacral agenesis (or caudal regression syndrome) is a rare congenital anomaly involving various levels of coccygeal, sacral, and even lumbar or lower thoracic vertebral dysgenesis, as well as spinal cord abnormalities. A few cases have been previously reported in Korea, especially based upon MRI findings. We describe a case of a 4-year-old girl with partially bilateral agenesis of the sacrum (type II), and club-shaped (chisel-shaped) spinal cord disruption. We also review MRI findings of sacral agenesis, focused on classification and radiological findings.

  13. Maternal use of acetaminophen, ibuprofen, and acetylsalicylic acid during pregnancy and risk of cryptorchidism

    DEFF Research Database (Denmark)

    Jensen, Morten Søndergaard; Rebordosa, Cristina; Thulstrup, Ane Marie

    2010-01-01

    Cyclooxygenase (COX) inhibitors-acetaminophen, ibuprofen and acetylsalicylic acid-have endocrine-disruptive properties in the rainbow trout. In humans, aspirin blocks the androgen response to human chorionic gonadotropin (hCG), and, because hCG-stimulated androgen production in utero is crucial...... for normal testicular descent, exposure to COX inhibitors at vulnerable times during gestation may impair testicular descent. We examined whether prenatal exposure to acetaminophen, ibuprofen, and acetylsalicylic acid was associated with increased occurrence of cryptorchidism....

  14. Association between chemical pattern in breast milk and congenital cryptorchidism: modelling of complex human exposures

    DEFF Research Database (Denmark)

    Krysiak-Baltyn, Konrad; Toppari, J.; Skakkebaek, N. E.

    2012-01-01

    , polybrominated biphenyls and organochlorine pesticides. Computational analysis of the data was performed using logistic regression and three multivariate machine learning classifiers. Furthermore, we performed systems biology analysis to explore the chemical influence on a molecular level. After correction...... and cryptorchidism than Finnish samples. Moreover, PCBs were indicated as having a protective effect within the Danish cohort, which was supported by molecular data recovered through systems biology. Our results lend further support to the hypothesis that the mixture of environmental chemicals may contribute...

  15. Agenesis of the posterior arch of the atlas

    Directory of Open Access Journals (Sweden)

    Torriani Martin

    2002-01-01

    Full Text Available PURPOSE: To illustrate the radiological findings and review the current literature concerning a rare congenital abnormality of the posterior arch of the atlas. CASE REPORT: An adult female without neurological symptoms presented with an absent posterior arch of the atlas, examined with plain films and helical computerized tomography. Complete agenesis of the posterior arch of the atlas is a rare entity that can be easily identified by means of plain films. Although it is generally asymptomatic, atlantoaxial instability and neurological deficits may occur because of structural instability. Computerized tomography provides a means of assessing the extent of this abnormality and can help evaluate the integrity of neural structures. Although considered to be rare entities, defects of the posterior arch of the atlas may be discovered as incidental asymptomatic findings in routine cervical radiographs. Familiarity with this abnormality may aid medical professionals in the correct management of these cases.

  16. Left Pulmonary Artery Agenesis in a Pediatric Patient – Case Report

    Directory of Open Access Journals (Sweden)

    Blesneac Cristina

    2016-06-01

    Full Text Available Unilateral pulmonary artery agenesis is a rare congenital anomaly, that may develop in isolation, or in association with other congenital cardiovascular anomalies, such as tetralogy of Fallot, septal defects, right-sided aortic arch, or pulmonary atresia. Left-sided pulmonary artery agenesis is less frequent than the right-sided one. Diagnosis of unilateral pulmonary artery agenesis can be difficult. We report the case of a 15 year-old boy who presented with reduced exercise tolerance, shortness of breath and cyanosis. He was diagnosed with left pulmonary artery agenesis, associated with subaortic-ventricular septal defect, right-sided aortic arch, and severe pulmonary arterial hypertension (PAH, that precluded the surgical repair. Pulmonary vasodilator therapy was initiated in this case. The mortality rate of this rare anomaly is high due to its complications. It is essential to establish an early and correct diagnosis, in order to provide adequate treatment and prevent complications in this disease.

  17. Agenesis of dorsal pancreas with eventration of diaphragm and intrapancreatic pseudocyst: a rare entity

    Directory of Open Access Journals (Sweden)

    Poras Chaudhary

    2013-02-01

    Full Text Available A case of acute pancreatitis in a 43-year-old male patient, which was eventually diagnosed as agenesis of dorsal pancreas with eventration of left hemidiaphragm and intrapancreatic pseudocyst is being reported.

  18. Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.

    Science.gov (United States)

    Hilbrands, Robert; Keymolen, Kathelijn; Michotte, Alex; Marichal, Miriam; Cools, Filip; Goossens, Anieta; Veld, Peter In't; De Schepper, Jean; Hattersley, Andrew; Heimberg, Harry

    2017-05-19

    Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development. We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later confirmed by autopsy, which also identified agenesis of the gallbladder. Although the sequences of a selected set of genes related to pancreas agenesis or HPE were wild-type, the patient's phenotype suggests a genetic defect that emerges early in embryonic development of brain, gallbladder and pancreas. Developmental defects of the pancreas and brain can occur together. Identifying the genetic defect may identify a novel key regulator in beta cell development.

  19. Middle fossa arachnoid cyst with temporal lobe agenesis accompanying isodense subdural hematoma -a case report-

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung Soo; Choi, Hyung Sik; Kim, Myung Joon; Yang, Seoung Oh; Kim, Chang Jin [Capital Armed Forces General Hospital, Seongnam (Korea, Republic of)

    1987-12-15

    Cysts overlying the temporal lobes have been well described in literature. These are often associated with agenesis of the temporal lobes, and of major neurosurgical interest due to their frequent association with subdural hematoma, a combination that is rarely seen with cysts in other regions. Full features of plain, angiographic, and CT findings of arachnoid cyst with temporal lobe agenesis accompanying isodense subdural hematoma are presented, being very rare in radiologic literature.

  20. Agenesis of premolar associated with submerged primary molar and a supernumerary premolar: An unusual case report

    Directory of Open Access Journals (Sweden)

    S. V. S. G. Nirmala

    2012-01-01

    Full Text Available The combination of submerged primary molar, agenesis of permanent successor with a supernumerary in the same place is very rare. The purpose of this article is to report a case of submerged mandibular left second primary molar with supernumerary tooth in the same region along with agenesis of second premolar in an 11-year-old girl, its possible etiological factors, and a brief discussion on treatment options.

  1. Heterotaxy syndrome with associated agenesis of dorsal pancreas and polysplenia: A case report

    Directory of Open Access Journals (Sweden)

    Syed Althaf Ali1

    2015-01-01

    Full Text Available Heterotaxy syndrome is a rare embryological disorder comprising of polysplenia, partial agenesis of dorsal pancreas, malrotation of gut, cardiac and vascular anomalies resulting from failure of development of the usual left–right asymmetry of organs. We report a rare case of heterotaxy syndrome with polysplenia, partial agenesis of dorsal pancreas and malrotation of gut in a 28 year female presenting with subacute intestinal obstruction along with imaging illustrations, brief discussion and thorough review of literature.

  2. Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies

    KAUST Repository

    Cannistraci, Carlo

    2013-02-14

    Background: Cryptorchidism is the most frequent congenital disorder in male children; however the genetic causes of cryptorchidism remain poorly investigated. Comparative integratomics combined with systems biology approach was employed to elucidate genetic factors and molecular pathways underlying testis descent. Methods. Literature mining was performed to collect genomic loci associated with cryptorchidism in seven mammalian species. Information regarding the collected candidate genes was stored in MySQL relational database. Genomic view of the loci was presented using Flash GViewer web tool (http://gmod.org/wiki/Flashgviewer/). DAVID Bioinformatics Resources 6.7 was used for pathway enrichment analysis. Cytoscape plug-in PiNGO 1.11 was employed for protein-network-based prediction of novel candidate genes. Relevant protein-protein interactions were confirmed and visualized using the STRING database (version 9.0). Results. The developed cryptorchidism gene atlas includes 217 candidate loci (genes, regions involved in chromosomal mutations, and copy number variations) identified at the genomic, transcriptomic, and proteomic level. Human orthologs of the collected candidate loci were presented using a genomic map viewer. The cryptorchidism gene atlas is freely available online: http://www.integratomics-time.com/cryptorchidism/. Pathway analysis suggested the presence of twelve enriched pathways associated with the list of 179 literature-derived candidate genes. Additionally, a list of 43 network-predicted novel candidate genes was significantly associated with four enriched pathways. Joint pathway analysis of the collected and predicted candidate genes revealed the pivotal importance of the muscle-contraction pathway in cryptorchidism and evidence for genomic associations with cardiomyopathy pathways in RASopathies. Conclusions: The developed gene atlas represents an important resource for the scientific community researching genetics of cryptorchidism. The

  3. Comparison of penile length at 6–24 months between children with unilateral cryptorchidism and a healthy normal cohort

    Directory of Open Access Journals (Sweden)

    Dong Soo Ryu

    2018-01-01

    Full Text Available Purpose: Urologic diseases affected by testosterone can be associated with smaller penis size compared to the normal population. We sought to compare penile length in children with unilateral cryptorchidism and normative data from a cohort of healthy Korean boys. Materials and Methods: This study was performed in 259 Korean boys (212, normal cohort; 47, cryptorchidism aged 6–24 months, each of whom had been brought to an outpatient clinic at one of five tertiary hospitals (Gyeongsangnam-do Province between April 2014 and June 2015. Penile length was measured via stretched penile length (SPL and testicular size was measured using orchidometry (mL. Results: SPL in children with cryptorchidism was significantly shorter compared to a cohort of healthy Korean boys aged 6–24 months (3.7±0.5 cm and 4.3±0.8 cm, p<0.001, although there were no differences with regard to height, body weight and contralateral testicular size between the two groups. According to the stratified ages (6–12, 12–18, and 18–24 months, SPL in children with cryptorchidism was persistently shorter at their ages than those without. Conclusions: It might be that the penile length aged 6–24 months of children with unilateral cryptorchidism is shorter than that of a cohort of healthy Korean boys.

  4. Tooth agenesis and craniofacial morphology in pre-orthodontic children with and without morphological deviations in the upper cervical spine

    DEFF Research Database (Denmark)

    Jasemi, Ashkan; Sonnesen, Liselotte

    2016-01-01

    AIM: To analyze differences in prevalence and pattern of tooth agenesis and craniofacial morphology between non syndromic children with tooth agenesis with and without upper cervical spine morphological deviations and to analyze associations between craniofacial morphology and tooth agenesis...... in the two groups together. METHODS: One hundred and twenty-six pre-orthodontic children with tooth agenesis were divided into two groups with (19 children, mean age 11.9) and without (107 children, mean age 11.4) upper spine morphological deviations. Visual assessment of upper spine morphology...... and measurements of craniofacial morphology were performed on lateral cephalograms. Tooth agenesis was evaluated from orthopantomograms. RESULTS: No significant differences in tooth agenesis and craniofacial morphology were found between children with and without upper spine morphological deviations (2.2 ± 1.6 vs...

  5. Unilateral occlusion of duplicated uterus with ipsilateral renal anomaly in young girls: a study with MRI

    International Nuclear Information System (INIS)

    Li, Y.W.; Shieh, C.P.; Chen, W.J.

    1995-01-01

    Twenty-four young girls (mean age 13.0 years) with unilateral occlusion of a duplicated uterus and ipsilateral renal agenesis, dysplasia or hypoplasia were studied with magnetic resonance imaging (MRI) following ultrasound examination. Hydrocolpos (n=4), hydrometrocolpos (n=2), hematocolpos (n=11), hematometrocolpos (n=5), hematocolpometra, hematosalpinx (n=3) and hematometra, hematosalpinx (n=1) were noted (two of these patients had presented with hydrocolpos and hematocolpos before and after the menarche). Twenty-two of these girls presented with ipsilateral renal agenesis (right 11, left 11) with ectopic ureters to Gartner's dust cysts (GDC) in two, in one renal hypoplasia and in one renal dysplasia with ectopic ureters to GDC. MRI offered specific images of the genital tract, showing the exact type of muellerian duct anomaly and providing high diagnostic accuracy. Such preoperative identification of a uterine anomaly, complemented with appropriate surgical intervention, can assist young girls in achieving normal fertility in the future. (orig.)

  6. Testicular neoplasia in undescended testes of cryptorchid boys-does surgical strategy have an impact on the risk of invasive testicular neoplasia?

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, Jørgen Mogens; Petersen, Bodil Laub

    2004-01-01

    We investigated whether or not surgical strategy has an impact on the risk of invasive testicular neoplasia in cases of cryptorchidism. We made a database study of the incidence of testicular neoplasia at surgery for cryptorchidism in childhood, and evaluated if such abnormalities were found......, p placed...

  7. Incidence of agenesis of palmaris longus in the Andhra population of India

    Directory of Open Access Journals (Sweden)

    K Devi Sankar

    2011-01-01

    Full Text Available Background : The knowledge of Palmaris longus (PL is a growing interest for its wide role in reconstructive plastic surgeries as a donor tendon for transfer or transplant. The prevalence of the PL agenesis has been well-documented by many authors in different ethnic groups or populations. Many conventional tests for determining the presence of the PL has been described, but lamentably there are many discrepancies in confirming its presence or absence. Slight modifications of the prevailing methods can still give authenticate results. Aim : This prospective study was conducted to determine the incidence of unilateral and bilateral agenesis of PL and its association with sex and side of the limb in the Andhra population of India. Materials and Methods : A total of 942 subjects of both sexes belonging to 18-23 years were used to access the PL using various tendon examination techniques including our modified Schaeffer′s test. The data collected were analyzed by Pearsons χ2 test using SPSS software. Results : Overall agenesis of muscle in both sexes was 264 (28.0%, out of which 40.2% was seen in females and 14.7% in males with the ratio of 3:1. The unilateral agenesis was seen in 70.5% and bilateral agenesis in 29.5% subjects. The left side agenesis was seen in 51.6% and right side in 48.4% subjects. Conclusions : The prevalence of bilateral and unilateral agenesis was more common on left side with a greater likelihood in the female subjects. The proposed technique could bring better results in all subjects and can be implemented in manual examination of PL.

  8. Testicular Growth During Puberty in Boys With and Without a History of Congenital Cryptorchidism

    DEFF Research Database (Denmark)

    Sadov, Sergey; Koskenniemi, Jaakko J; Virtanen, Helena E

    2016-01-01

    CONTEXT: The pattern of testicular growth during puberty may provide important information about early testicular damage and reproductive potential in adulthood. OBJECTIVE: To evaluate pubertal testicular growth in boys with congenital cryptorchidism and controls. DESIGN: Longitudinal case...... mL by orchidometer and 25 mm by ruler as cut-offs in definition of the onset of puberty. An orchidometer size of 3 mL and ruler length of 25 mm corresponded to 1.6 and 1.7 mL by ultrasound (with Lambert's formula), respectively. CONCLUSIONS: Testicular growth in puberty was impaired in congenitally...

  9. Emotional Intelligence in Agenesis of the Corpus Callosum.

    Science.gov (United States)

    Anderson, Luke B; Paul, Lynn K; Brown, Warren S

    2017-05-01

    People with agenesis of the corpus callosum (AgCC) with normal general intelligence have deficits in complex cognitive processing, as well as in social cognition. It is uncertain the extent to which impoverished processing of emotions may contribute to social processing deficiencies. We used the Mayer-Salovey-Caruso Emotional Intelligence Test to clarify the nature of emotional intelligence in 16 adults with AgCC. As hypothesized, persons with AgCC exhibited greater disparities from norms on tests involving more socially complex aspects of emotions. The AgCC group did not differ from norms on the Experiential subscale, but they were significantly below norms on the Strategic subscale. These findings suggest that the corpus callosum is not essential for experiencing and thinking about basic emotions in a "normal" way, but is necessary for more complex processes involving emotions in the context of social interactions. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  10. Gallbladder Agenesis in 17 Dogs: 2006-2016.

    Science.gov (United States)

    Sato, K; Sakai, M; Hayakawa, S; Sakamoto, Y; Kagawa, Y; Kutara, K; Teshima, K; Asano, K; Watari, T

    2018-01-01

    Gallbladder agenesis (GBA) is extremely rare in dogs. To describe the history, clinical signs, diagnosis, treatment, and outcomes of dogs with GBA. Seventeen client-owned dogs with GBA. Medical records from 2006 through 2016 were retrospectively reviewed. Dogs were included when GBA was suspected on abdominal ultrasonography and confirmed by gross evaluation. Signalment, clinical signs, clinicopathological data, diagnostic imaging, histopathology, treatment, and outcome were recorded. Dogs were of 6 different breeds, and Chihuahuas (10 of 17) were most common. Median age at presentation was 1.9 (range, 0.7-7.4) years. Clinical signs included vomiting (5 of 17), anorexia (2 of 17), ascites (2 of 17), diarrhea (1 of 17), lethargy (1 of 17), and seizures (1 of 17). All dogs had increased serum activity of at least 1 liver enzyme, most commonly alanine aminotransferase (15 of 17). Fifteen dogs underwent computed tomography (CT) cholangiography; common bile duct (CBD) dilatation was confirmed in 12, without evidence of bile duct obstruction. Gross evaluation confirmed malformation of the liver lobes in 14 of 17 dogs and acquired portosystemic collaterals in 5 of 17. Ductal plate malformation was confirmed histologically in 16 of 17 dogs. During follow-up (range, 4-3,379 days), 16 of 17 dogs remained alive. Dogs with GBA exhibit clinicopathological signs of hepatobiliary injury and hepatic histopathological changes consistent with a ductal plate abnormality. Computed tomography cholangiography was superior to ultrasound examination in identifying accompanying nonobstructive CBD distention. Computed tomography cholangiography combined with laparoscopic liver biopsy is the preferable approach to characterize the full disease spectrum accompanying GBA in dogs. Copyright © 2018 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  11. Proverb comprehension in individuals with agenesis of the corpus callosum.

    Science.gov (United States)

    Rehmel, Jamie L; Brown, Warren S; Paul, Lynn K

    2016-09-01

    Comprehension of non-literal language involves multiple neural systems likely involving callosal connections. We describe proverb comprehension impairments in individuals with isolated agenesis of the corpus callosum (AgCC) and normal-range general intelligence. Experiment 1 compared Gorham Proverb Test (Gorham, 1956) performance in 19 adults with AgCC and 33 neurotypical control participants of similar age, sex, and intelligence. Experiment 2 used the Proverbs subtest of the Delis-Kaplan Executive Function System (D-KEFS, 2001) to compare 19 adults with AgCC and 17 control participants with similar age, sex, and intelligence. Gorham Proverbs performance was impaired in the AgCC group for both the free-response and multiple-choice tasks. On the D-KEFS proverbs test, the AgCC group performed significantly worse on the free-response task (and all derivative scores) despite normal levels of performance on the multiple-choice task. Covarying verbal intelligence did not alter these outcomes. However, covarying a measure of non-literal language comprehension considerably reduced group differences in proverb comprehension on the Gorham test, but had little effect on the D-KEFS group differences. The difference between groups seemed to be greatest when participants had to generate their own interpretation (free response), or in the multiple choice format when the test included many proverbs that were likely to be less familiar. Taken together, the results of this study clearly show that proverb comprehension is diminished in individuals with AgCC compared to their peers. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. The relation of germ cells per tubule in testes, serum inhibin B and FSH in cryptorchid boys

    DEFF Research Database (Denmark)

    Cortes, D; Thorup, Jørgen Mogens; Hogdall, E

    2007-01-01

    At bilateral orchiopexy bilateral biopsies may be indicated to determine fertility potential. It is currently unknown if the serum inhibin B levels at time of orchiopexy reflect the testicular status of the bilaterally cryptorchid child. The aim of this study was to relate the results of inhibin ...

  13. Securing the airway in a child with tracheal agenesis – an alternative perspective

    Directory of Open Access Journals (Sweden)

    Slavomir Nosal

    2011-03-01

    Full Text Available Tracheal agenesis is an extremely rare, typically fatal congenital anomaly characterised by typical clinical manifestation, failed endotracheal intubation and difficult emergency management. The prognosis and possibility of surgical correction rest on early diagnosis, anatomy, birth weight, and associated anomalies. Tracheal agenesis causes considerable resuscitation difficulties immediately after birth, as tracheal intubation is impossible. Although emergency management, by either bag and mask ventilation or oesophageal intubation, provides some pulmonary gas exchange through tracheo-oesophageal connection, they are associated with overdistension of the stomach and the risk of stomach perforation. We have performed selective intubation of the distal trachea in a child with tracheal agenesis through the tracheo-oesophageal connection with the help of a fibroendoscope. A standard guide wire was passed through the working port of the flexible endoscope and under direct vision was directed through the tracheo-oesophageal connection into the distal trachea. At this point, the endoscope was removed, leaving the guide wire in place. The endotracheal tube size 2 Fr was passed over the guide wire into the distal trachea. The infant showed dramatic improvement and maintained good saturations on mechanical ventilation. The infant was taken for a computed tomography (CT scan, which showed Floyd’s type II tracheal agenesis, the oesophagus connecting with the distal trachea before it bifurcates. The endotracheal tube was seen ending in the carina. Transoesophageal intubation of the short distal segment of the trachea through the tracheo-oesophageal connection might offer a new perspective for short-term securing of the airway in a child with tracheal agenesis and should be considered in any child with suspected tracheal agenesis to buy the time while evaluating the exact anatomy of the anomaly and the possibility of tracheal reconstruction in selected

  14. Maternal gestational smoking, diabetes, alcohol drinking, pre-pregnancy obesity and the risk of cryptorchidism: a systematic review and meta-analysis of observational studies.

    Directory of Open Access Journals (Sweden)

    Lin Zhang

    Full Text Available Maternal gestational smoking, diabetes, alcohol drinking, and pre-pregnancy obesity are thought to increase the risk of cryptorchidism in newborn males, but the evidence is inconsistent.We conducted a systematic review and meta-analysis of studies on the association between maternal gestational smoking, diabetes, alcohol drinking, and pre-pregnancy obesity and the risk of cryptorchidism. Articles were retrieved by searching PubMed and ScienceDirect, and the meta-analysis was conducted using Stata/SE 12.0 software. Sensitivity analysis was used to evaluate the influence of confounding variables.We selected 32 articles, including 12 case-control, five nested case-control, and 15 cohort studies. The meta-analysis showed that maternal smoking (OR = 1.17, 95% CI: 1.11-1.23 or diabetes (OR = 1.21, 95%CI: 1.00-1.46 during pregnancy were associated with increased risk of cryptorchidism. Overall, the association between maternal alcohol drinking (OR = 0.97, 95% CI: 0.87-1.07, pre-pregnancy body mass index (OR = 1.02, 95% CI: 0.95-1.09 and risk of cryptorchidism were not statistically significant. Additional analysis showed reduced risk (OR = 0.89, 95% CI: 0.82-0.96 of cryptorchidism with moderate alcohol drinking during pregnancy. No dose-response relationship was observed for increments in body mass index in the risk of cryptorchidism. Sensitivity analysis revealed an unstable result for the association between maternal diabetes, alcohol drinking and cryptorchidism. Moderate heterogeneity was detected in studies of the effect of maternal alcohol drinking and diabetes. No publication bias was detected.Maternal gestational smoking, but not maternal pre-pregnancy overweight or obesity, was associated with increased cryptorchidism risk in the offspring. Moderate alcohol drinking may reduce the risk of cryptorchidism while gestational diabetes may be a risk factor, but further studies are needed to verify this.

  15. Maternal gestational smoking, diabetes, alcohol drinking, pre-pregnancy obesity and the risk of cryptorchidism: a systematic review and meta-analysis of observational studies.

    Science.gov (United States)

    Zhang, Lin; Wang, Xing-Huan; Zheng, Xin-Min; Liu, Tong-Zu; Zhang, Wei-Bin; Zheng, Hang; Chen, Mi-Feng

    2015-01-01

    Maternal gestational smoking, diabetes, alcohol drinking, and pre-pregnancy obesity are thought to increase the risk of cryptorchidism in newborn males, but the evidence is inconsistent. We conducted a systematic review and meta-analysis of studies on the association between maternal gestational smoking, diabetes, alcohol drinking, and pre-pregnancy obesity and the risk of cryptorchidism. Articles were retrieved by searching PubMed and ScienceDirect, and the meta-analysis was conducted using Stata/SE 12.0 software. Sensitivity analysis was used to evaluate the influence of confounding variables. We selected 32 articles, including 12 case-control, five nested case-control, and 15 cohort studies. The meta-analysis showed that maternal smoking (OR = 1.17, 95% CI: 1.11-1.23) or diabetes (OR = 1.21, 95%CI: 1.00-1.46) during pregnancy were associated with increased risk of cryptorchidism. Overall, the association between maternal alcohol drinking (OR = 0.97, 95% CI: 0.87-1.07), pre-pregnancy body mass index (OR = 1.02, 95% CI: 0.95-1.09) and risk of cryptorchidism were not statistically significant. Additional analysis showed reduced risk (OR = 0.89, 95% CI: 0.82-0.96) of cryptorchidism with moderate alcohol drinking during pregnancy. No dose-response relationship was observed for increments in body mass index in the risk of cryptorchidism. Sensitivity analysis revealed an unstable result for the association between maternal diabetes, alcohol drinking and cryptorchidism. Moderate heterogeneity was detected in studies of the effect of maternal alcohol drinking and diabetes. No publication bias was detected. Maternal gestational smoking, but not maternal pre-pregnancy overweight or obesity, was associated with increased cryptorchidism risk in the offspring. Moderate alcohol drinking may reduce the risk of cryptorchidism while gestational diabetes may be a risk factor, but further studies are needed to verify this.

  16. MR diagnosis of penile agenesis: is it just absence of a phallus?

    Energy Technology Data Exchange (ETDEWEB)

    Goenka, Ajit; Jain, Vaibhav; Sharma, Raju; Gupta, Arun K. [All India Institute of Medical Sciences, Department of Radiodiagnosis, New Delhi (India); Bajpai, Minu [All India Institute of Medical Sciences, Department of Paediatric Surgery, New Delhi (India)

    2008-10-15

    Penile agenesis is an extremely rare anomaly that results from absence of the genital tubercle or its failure to develop into a penis during embryonic life. Associated anomalies of the genitourinary and distal gastrointestinal tracts are frequently present. Imaging modalities, particularly MRI and cystography, play a crucial role in establishing the diagnosis and guiding further management. We report a child with penile agenesis with a urethroanal fistula and a blind-ending anterior urethra who had been reared as a male until presentation. (orig.)

  17. MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

    Directory of Open Access Journals (Sweden)

    Sheetal Sharda

    2011-01-01

    Full Text Available There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

  18. Sertoli cell tumor arising in a cryptorchid testis presenting as a content of inguinal hernial sac

    Directory of Open Access Journals (Sweden)

    Kusuma Venkatesh

    2016-01-01

    Full Text Available Sertoli cell tumors (SCTs are rare tumors accounting for <1% of all testicular tumors. Here, we report a rare case of SCT in a 60-year-old man presenting as a painless swelling in the right groin since childhood. Clinically, he presented with right-sided inguinal hernia with absence of the right testis. He had normal left testis and had no gynecomastia or infertility. The specimen of hernial sac showed testis with a 1.6 cm × 1.5 cm nodular mass having gray tan-cut surface. Histopathologically, the testis showed atrophy and the nodular portion showed tumor cells arranged in tubular and microcystic pattern, with no solid pattern or necrosis. The diagnosis of SCT was confirmed with immunohistochemical staining for inhibin which showed fine granular cytoplasmic positivity. Cryptorchid testis having SCT and presenting as a content of inguinal hernia is a rare occurrence.

  19. Intranasal LH-RH treatment of cryptorchidism. A clinical trial and 5 years follow-up

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Mauritzen, K; Skakkebaek, N E

    1987-01-01

    The effect of intranasal LH-RH on cryptorchidism was investigated in 45 prepubertal boys with 68 undescended testes. A daily dose of 1.2 mg LH-RH was given for 4 weeks. A total of 16 testes (24%) descended. Follow-up examination 5 years later showed that relapse had occurred in two cases. Fifty......-two testes did not descend during the LH-RH treatment. However, seven of these testes descended spontaneously during puberty. So far surgical treatment has been carried out in 39 of the remaining 45 testes. Anatomical anomalies (ectopic position of the testis, open processus vaginalis, abnormal epididymis......) explained the failure of LH-RH to cause descent in the majority of the surgically treated cases....

  20. Erythrocytosis Secondary to Testosterone Therapy in a Male with Cryptorchidism: A Case Report

    Directory of Open Access Journals (Sweden)

    Efthymia Vlachaki

    2012-12-01

    Full Text Available Hypogonadism is association with aging (andropause can now be recognized earlier and treated with testosterone, thus resulting in the relief of symptoms and better quality of life. However, any patients that are treated with testosterone must be closely monitored in order to avoid the development of sleep apnea, cardiovascular diseases, hepatic dysfunction, plasma lipid disorders, or erythrocytosis, all of which are potential side effects of treatment. Herein, we present a case of erythrocytosis secondary to testosterone treatment in a patient with cryptorchidism. Hemoglobin levels returned to normal soon after phlebotomy and discontinuation of testosterone therapy. Physicians should be aware of the side effects of testosterone replacement therapy and cautiously monitor patients in order to avoid these side effects and cumbersome and expensive laboratory tests.

  1. What is new in cryptorchidism and hypospadias--a critical review on the testicular dysgenesis hypothesis

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; McLachlan, Robert; Cortes, Dina

    2010-01-01

    the past 40 years, hypospadias rates have not changed with certainty over the same period. Also, recent studies demonstrate that sperm output may have declined in certain areas of Europe but is probably not declining across the globe as indicated by American studies. However, at the same time......It has been hypothesized that poor semen quality, testis cancer, undescended testis, and hypospadias are symptoms of one underlying entity--the testicular dysgenesis syndrome--leading to increasing male fertility impairment. Though testicular cancer has increased in many Western countries during......, there is increasing recognition of male infertility related to obesity and smoking. There is no certain evidence that the rates of undescended testes have been increasing with time during the last 50 years. In more than 95% of the cases, hypospadias is not associated with cryptorchidism, suggesting major differences...

  2. Comparison of micromorphometric testis tissue structures in antenatal fetuses and patients with congenital cryptorchidism

    Directory of Open Access Journals (Sweden)

    K. V. Bunkov

    2015-01-01

    Full Text Available Investigation of paired organs, testicles in particular, in the antenatal period as compared to congenital cryptorchidism in the context of interrelationship can objectively approach the consideration of the whole set of physiological and pathological processes in them, by taking into account histophysiological identity. The paper gives the results of micromorphometric examinations of the units of a communication system (cellular populations and the areas of parenchymatous and stromal structures (intertubular connective tissue, convoluted seminiferous tubules, and spermatogenic epithelium in two groups: 1 34 antenatal (ANT fetuses at 20–41 weeks' gestation and 2 46 children with congenital unilateral cryptorchidism (CR, in whom testis tissue biopsy specimens were examined at the age of 1 to 14 years. Determination of the similarity of micromorphometric structures (the number of cellular population in the intertubular connective tissue, convoluted seminiferous tubules, and the areas of intertubular connective tissue, spermatogenic epithelium, and capillary lumens was analyzed to discover an identity in the testes tissues of the ANT fetuses versus the children with congenital unilateral CR, by considering the position and site of testicles. The findings indicate that there are synchronous changes of individual similar structures between the right and left testicle during its natural descent into the scrotum in the ANT fetuses and in the patients with congenital CR, which is suggestive of the symmetry and relationship between the contralateral sex glands in different ontogenetic groups. This may testify that there are similar processes occurring between the testis tissues in the children with congenital CR and in the ANT fetuses. The findings may become a ground for further consideration of congenital CR in the context of not only the micromorphometry, but also functional activity of tests tissue structures when comparatively analyzing these

  3. Professional and patient-based evaluation of oral rehabilitation in patients with tooth agenesis

    DEFF Research Database (Denmark)

    Dueled, Erik; Gotfredsen, Klaus; Trab Damsgaard, Mogens

    2009-01-01

    OBJECTIVES: The outcome of oral rehabilitation is usually monitored with clinical tests rather than by patient's perception of change. The aim of this study was to describe the objective measure and subjective perception of oral rehabilitation in patients with tooth agenesis. MATERIAL AND METHODS...

  4. Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population

    Czech Academy of Sciences Publication Activity Database

    Hloušková, A.; Bonczek, Ondřej; Izakovičová Hollá, L.; Lochman, J.; Šoukalová, J.; Štembírek, Jan; Míšek, Ivan; Černochová, P.; Krejčí, P.; Vaněk, J.; Šerý, Omar

    2015-01-01

    Roč. 36, č. 5 (2015), s. 101-106 ISSN 0172-780X R&D Projects: GA MZd(CZ) NT11420 Institutional support: RVO:67985904 Keywords : odontogenesis * tooth agenesis * PAX9 gene Subject RIV: FF - HEENT, Dentistry Impact factor: 0.946, year: 2015

  5. Aicardi's syndrome: (agenesis of the corpus callosum, infantile spasms, and ocular anomalies).

    Science.gov (United States)

    Dinani, S; Jancar, J

    1984-06-01

    A case of Aicardi's syndrome is reported. A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic eye lesions, vertebral anomalies and abnormal EEG pattern. The results of supporting examination and investigations are noted.

  6. Imaging features of isolated unilateral pulmonary artery agenesis presenting in adulthood: a review of four cases

    International Nuclear Information System (INIS)

    Griffin, N.; Mansfield, L.; Redmond, K.C.; Dusmet, M.; Goldstraw, P.; Mittal, T.K.; Padley, S.

    2007-01-01

    Aim: To highlight the variation in clinical manifestations, imaging and management of four cases of unilateral pulmonary artery agenesis presenting in adulthood. Method: Four patients with unilateral pulmonary artery agenesis were referred to our institution between 1995 and 2005. They underwent a series of investigations, including chest radiography, echocardiography, ventilation perfusion scintigraphy, angiography, computed tomography (CT) and magnetic resonance imaging (MRI). Results: Two of the four patients had absence of the right main pulmonary artery, whilst the remaining two patients had absence of the left main pulmonary artery. One patient showed a restrictive defect on pulmonary function tests. Two patients who had ventilation perfusion scintigraphy showed absent perfusion and reduced ventilation on the affected side. Angiography (where performed), CT and MRI confirmed the anatomy and the presence of multiple collaterals. Bronchiectasis was demonstrated on CT in two patients, with one also demonstrating a mosaic attenuation pattern. One patient had an incidental lung tumour on the side of the agenesis, which was diagnosed as a chondroid hamartoma on histology. Three of the four patients eventually underwent resection of the affected lung. Conclusion: Isolated unilateral pulmonary artery agenesis has a non-specific presentation. Awareness of this condition can lead to earlier diagnosis, with cross-sectional imaging making an important contribution

  7. Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

    Science.gov (United States)

    Malmgren, B; Andersson, K; Lindahl, K; Kindmark, A; Grigelioniene, G; Zachariadis, V; Dahllöf, G; Åström, E

    2017-01-01

    Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2). Tooth agenesis is a common feature of OI. We investigated the association between tooth agenesis and collagen type I mutations in individuals with OI. In this cohort study, 128 unrelated individuals with OI were included. Panoramic radiographs were analyzed regarding dentinogenesis imperfecta (DGI) and congenitally missing teeth. The collagen I genes were sequenced in all individuals, and in 25, multiplex ligation-dependent probe amplification was performed. Mutations in the COL1A1 and COL1A2 genes were found in 104 of 128 individuals. Tooth agenesis was diagnosed in 17% (hypodontia 11%, oligodontia 6%) and was more frequent in those with DGI (P = 0.016), and in those with OI type III, 47%, compared to those with OI types I, 12% (P = 0.003), and IV, 13% (P = 0.017). Seventy-five percent of the individuals with oligodontia (≥6 missing teeth) had qualitative mutations, but there was no association with OI type, gender, or presence of DGI. The prevalence of tooth agenesis is high (17%) in individuals with OI, and OI caused by a qualitative collagen I mutation is associated with oligodontia. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Neurological presentations, imaging, and associated anomalies in 50 patients with sacral agenesis.

    Science.gov (United States)

    Emami-Naeini, Parisa; Rahbar, Ziba; Nejat, Farideh; Kajbafzadeh, Abdolmohammad; El Khashab, Mostafa

    2010-10-01

    Sacral agenesis is an uncommon congenital disorder that involves multiple organs. We studied neurological manifestations of the disease, common associated disorders, and their relation with extent of bony malformation. We investigated neurological manifestations of 50 patients with sacral agenesis. Patients were evaluated for previous procedures, ambulation, limb abnormalities, vertebral alignment, recurrent urinary tract infection, urinary incontinence, dribbling, dimple, lower extremities weakness, myelomeningocele (MMC), and lipomyelomenangocele. Weakness of lower extremities was seen in 37 (74%) patients. Concurrent weakness of proximal and distal muscles of the lower limb was statistically associated with a type of bony aplasia (P = .001). However, paraplegia was seen in only 2 of 44 children over the age of 1, and the rest could walk. Myelodysplastic syndromes were seen in 21 patients. Sacral agenesis is diagnosed in children with concomitant MMC at younger ages and reveals more severe symptoms. Progression of neurological disorders was seen in 19 patients, in all of whom MRI showed tethering of the spinal cord. Urinary disorders including diurnal urinary incontinence (in 30 of 35 children over age 4) and recurrent urinary tract infections (in 37) were also common. Imperforate anus was seen in 11 patients. Twelve children over age 4 reported fecal incontinence, a problem that had statistically significant association with imperforate anus (P = .013). Different disorders can concurrently affect patients with sacral agenesis that may have profound impressions on patients and their families. Early diagnosis, thorough evaluation, and proper intervention are of utmost importance as they can prevent or lessen future complications.

  9. Deep venous thrombosis and agenesis of the intrahepatic segment of inferior vena cava

    International Nuclear Information System (INIS)

    Velasco, J.; Fernandez, M.M.; Manzanares, R.; Hernando, A.

    1997-01-01

    We present a case of agenesis of the intrahepatic segment of inferior vena cava (IVC) with drainage through the azygos and hemiazygos systems. The presenting sign was deep venous thrombosis (DVT) in both lower extremities. The different imaging studies led to the diagnosis of both the congenital and acquired venous abnormalities, which are discussed. (Author) 14 refs

  10. Imaging features of isolated unilateral pulmonary artery agenesis presenting in adulthood: a review of four cases

    Energy Technology Data Exchange (ETDEWEB)

    Griffin, N. [Royal Brompton and Harefield NHS Trust, London (United Kingdom)]. E-mail: nyreegriffin@hotmail.com; Mansfield, L. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Redmond, K.C. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Dusmet, M. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Goldstraw, P. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Mittal, T.K. [Royal Brompton and Harefield NHS Trust, London (United Kingdom); Padley, S. [Royal Brompton and Harefield NHS Trust, London (United Kingdom)

    2007-03-15

    Aim: To highlight the variation in clinical manifestations, imaging and management of four cases of unilateral pulmonary artery agenesis presenting in adulthood. Method: Four patients with unilateral pulmonary artery agenesis were referred to our institution between 1995 and 2005. They underwent a series of investigations, including chest radiography, echocardiography, ventilation perfusion scintigraphy, angiography, computed tomography (CT) and magnetic resonance imaging (MRI). Results: Two of the four patients had absence of the right main pulmonary artery, whilst the remaining two patients had absence of the left main pulmonary artery. One patient showed a restrictive defect on pulmonary function tests. Two patients who had ventilation perfusion scintigraphy showed absent perfusion and reduced ventilation on the affected side. Angiography (where performed), CT and MRI confirmed the anatomy and the presence of multiple collaterals. Bronchiectasis was demonstrated on CT in two patients, with one also demonstrating a mosaic attenuation pattern. One patient had an incidental lung tumour on the side of the agenesis, which was diagnosed as a chondroid hamartoma on histology. Three of the four patients eventually underwent resection of the affected lung. Conclusion: Isolated unilateral pulmonary artery agenesis has a non-specific presentation. Awareness of this condition can lead to earlier diagnosis, with cross-sectional imaging making an important contribution.

  11. Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis

    Science.gov (United States)

    Xuan, Shouhong; Borok, Matthew J.; Decker, Kimberly J.; Battle, Michele A.; Duncan, Stephen A.; Hale, Michael A.; Macdonald, Raymond J.; Sussel, Lori

    2012-01-01

    Pancreatic agenesis is a human disorder caused by defects in pancreas development. To date, only a few genes have been linked to pancreatic agenesis in humans, with mutations in pancreatic and duodenal homeobox 1 (PDX1) and pancreas-specific transcription factor 1a (PTF1A) reported in only 5 families with described cases. Recently, mutations in GATA6 have been identified in a large percentage of human cases, and a GATA4 mutant allele has been implicated in a single case. In the mouse, Gata4 and Gata6 are expressed in several endoderm-derived tissues, including the pancreas. To analyze the functions of GATA4 and/or GATA6 during mouse pancreatic development, we generated pancreas-specific deletions of Gata4 and Gata6. Surprisingly, loss of either Gata4 or Gata6 in the pancreas resulted in only mild pancreatic defects, which resolved postnatally. However, simultaneous deletion of both Gata4 and Gata6 in the pancreas caused severe pancreatic agenesis due to disruption of pancreatic progenitor cell proliferation, defects in branching morphogenesis, and a subsequent failure to induce the differentiation of progenitor cells expressing carboxypeptidase A1 (CPA1) and neurogenin 3 (NEUROG3). These studies address the conserved and nonconserved mechanisms underlying GATA4 and GATA6 function during pancreas development and provide a new mouse model to characterize the underlying developmental defects associated with pancreatic agenesis. PMID:23006325

  12. Insulin-like factor 3 levels in cord blood and serum from children: effects of age, postnatal hypothalamic-pituitary-gonadal axis activation, and cryptorchidism

    DEFF Research Database (Denmark)

    Bay, Katrine; Virtanen, Helena E; Hartung, Stefan

    2007-01-01

    The Leydig cell hormone insulin-like factor 3 (INSL3) is important for testicular descent. Currently INSL3 levels in cord blood, in serum throughout childhood, and in relation to congenital cryptorchidism are unknown....

  13. Analysis of renal anomalies in VACTERL association.

    Science.gov (United States)

    Cunningham, Bridget K; Khromykh, Alina; Martinez, Ariel F; Carney, Tyler; Hadley, Donald W; Solomon, Benjamin D

    2014-10-01

    VACTERL association refers to a combination of congenital anomalies that can include: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula with esophageal atresia, renal anomalies (typically structural renal anomalies), and limb anomalies. We conducted a description of a case series to characterize renal findings in a cohort of patients with VACTERL association. Out of the overall cohort, 48 patients (with at least three component features of VACTERL and who had abdominal ultrasound performed) met criteria for analysis. Four other patients were additionally analyzed separately, with the hypothesis that subtle renal system anomalies may occur in patients who would not otherwise meet criteria for VACTERL association. Thirty-three (69%) of the 48 patients had a clinical manifestation affecting the renal system. The most common renal manifestation (RM) was vesicoureteral reflux (VUR) in addition to a structural defect (present in 27%), followed by unilateral renal agenesis (24%), and then dysplastic/multicystic kidneys or duplicated collected system (18% for each). Twenty-two (88%) of the 25 patients with a structural RM had an associated anorectal malformation. Individuals with either isolated lower anatomic anomalies, or both upper and lower anatomic anomalies were not statistically more likely to have a structural renal defect than those with isolated upper anatomic anomalies (p = 0.22, p = 0.284, respectively). Given the high prevalence of isolated VUR in our cohort, we recommend a screening VCUG or other imaging modality be obtained to evaluate for VUR if initial renal ultrasound shows evidence of obstruction or renal scarring, as well as ongoing evaluation of renal health. © 2014 Wiley Periodicals, Inc.

  14. Perawatan Teknik Begg Pada Maloklusi Klas I Dengan Kaninus Impaksi dan Insisivus Lateral Agenesis

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    Kristina Wijaya Gunawan

    2013-06-01

    Full Text Available Impaksi kaninus maksila sering dijumpai pada sisi palatal daripada labial. Agenesis adalah anomali pertumbuhan akibat tidak ada satu atau lebih benih gigi. Laporan kasus ini bertujuan memaparkan kemajuan perawatan kasus Maloklusi klas I dengan kaninus impaksi dan insisivus lateral agenesis menggunakan alat cekat teknik Begg. Seorang pasien usia 20 tahun datang mengeluhkan gigi-gigi depan atas dan bawah yang berjejal sehingga mengganggu penampilan. Perawatan bertujuan untuk koreksi Maloklusi Angle klas I tipe dentoskeletal dengan deepbite, crossbite gigi 25 terhadap 35, pergeseran midline dental maksila dan mandibula ke kanan sebesar 2,5 mm dan 3,0 mm, 13 impaksi vertikal pada sisi labial, 42 agenesis, dan edentulous parsial regio 36. Koreksi dilakukan dengan pencabutan 14, 25, pemanfaatan ruang bekas pencabutan 36 dan exposure gigi kaninus yang impaksi. Tahap pertama teknik Begg adalah leveling, unraveling, dan bite opening, diikuti dengan koreksi midline dan penutupan sisa ruang bekas pencabutan. Kesimpulan: perawataan ortodontik menggunakan teknik Begg yang dilakukan simultan dengan exposure kaninus impaksi labial dengan closed eruption technique dapat memberikan hasil yang memuaskan. Treatment for Class I Malocclusion with Impacted Canine and Agenesis Lateral Incisor Using Begg Technique. Maxillary canine impaction occurs commonly on the palatal than labial side. Agenesis is a developmental anomaly condition because of the absence of one or more tooth buds. This case report aims to explain the treatment progress of class I malocclusion with impacted canine and agenesis lateral incisor using fixed appliance through Begg technique. A 20-year-old female patient complained about her upper and lower anterior dental crowding that disturbed her appearance. The treatment aims to correct the Angle class I malocclusion dentoskeletal types with deepbite, crossbite 25 to 35, maxillary and mandibulary dental midline shift to the right by 2.5 mm and 3.0 mm

  15. Exposición prenatal a los plaguicidas organoclorados y criptorquidia Prenatal exposure to organochlorine pesticides and cryptorchidism

    Directory of Open Access Journals (Sweden)

    Lília Patrícia Bustamante Montes

    2010-06-01

    Full Text Available Los productos en desarrollo y los niños son particularmente vulnerables a los tóxicos ambientales. Nuestro objetivo es determinar los niveles de plaguicidas organoclorados (HCB, ß-HCH, pp'DDT, op'DDT y pp'DDE en lípidos séricos de madres de niños con criptorquidia y comparar los niveles con un grupo control de madres de niños con testículos descendidos. El grupo de los casos fue constituido por recién nacidos con diagnóstico de criptorquidia (n=41. El grupo control (n=41 se conformó por niños con testículos descendidos. A las madres de ambos grupos se les determinaron los niveles de plaguicidas organoclorados. La criptorquidia fue diagnosticada al nacimiento por neonatólogo. Residuos de plaguicidas organoclorados fueron encontrados en lípidos séricos de ambos grupos. Los niveles de la mediana (mgkg-1 en base lipídica fueron mayores para los metabolitos pp'DDT (0.464 vs. 0.269 y ß-HCH (0.263 vs. 0.192 en el grupo con criptorquidia comparado con el grupo control. (pFetuses and children are more susceptible to the effects of environmental toxins. The objective of this article is to determine the levels of organochlorine pesticides (HCB, ß-HCH, pp'DDT, op'DDT and pp'DDE in the serum lipids of mothers of newborns with cryptorchidism and compare the levels to a control group of mothers of newborns with descended testicles. The cases were composed of newborns with cryptorchidism (n=41, and the controls (n=41 newborns with descended testicles. Blood samples from both groups of mothers were used to determine the organochlorine pesticide levels. Cryptorchidism was diagnosed at birth by a neonatologist. The results showed that the organochlorine pesticide residues were found in the serum lipids of both groups of mothers. The median serum lipid levels (mgkg-1 lipid-based were statistically higher for the metabolites pp'DDT (0.464 vs. 0.269 and ß-HCH (0.263 vs. 0.192 in the cryptorchidism group compared to the control group (p<0.01. It

  16. Congenital renal anomalies in cloacal exstrophy: Is there a difference?

    Science.gov (United States)

    Suson, K D; Inouye, B; Carl, A; Gearhart, J P

    2016-08-01

    . There were also clinical implications. Women with renal agenesis and uterine anomalies were more likely to have endometriosis than those with isolated uterine anomalies, but were also more likely to have successful pregnancies. Males may have had an analogous condition with renal agenesis and seminal vesicle cysts. Future research into long-term kidney function in this population, uterine function, and possible male sexual duct malformation is warranted. Congenital renal anomalies occurred frequently in children with CE. They were more common in boys than in girls. Girls with abnormal Müllerian anatomy were more likely to have anomalous renal development. Mesonephric duct dysfunction may be embyologically responsible for both renal and Müllerian maldevelopment. Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  17. Congenital agenesis of unilateral parotid gland with ipsilateral type I first branchial cleft anomaly: A rare presentation

    OpenAIRE

    Tripti Maithani; Apoorva Pandey; Seema Acharya

    2014-01-01

    Aim: To report a rare case of unilateral parotid agenesis with ipsilateral type I first branchial cleft anomaly. Material and methods: A case study with special emphasis on the embryology, outlining the complex developmental process of parotid and branchial arches and highlighting the probable reason for development of such anomalies. Results: The literature states that unilateral parotid agenesis is a rare entity with few reported cases occurring solely or in conjunction with other hea...

  18. Individual renal function study using dynamic computed tomography

    International Nuclear Information System (INIS)

    Fukuda, Yutaka; Kiya, Keiichi; Suzuki, Yoshiharu

    1990-01-01

    Dynamic CT scans of individual kindneys were obtained after an intravenous bolus injection of contrast agent. Time-density curves measured from the renal cortex, medulla and pelvis revealed the changes in density produced by the contrast agent reflecting the differential phase of renal function. Renal cortical density increased rapidly after bolus administration and then renal medullary and pelvic density increased continuously. In analyzing time-density curve, the cortico-medullary junction time, which is the time when the cortical and medullary curves cross was 57±8 seconds in patients with normal renal function. The cortico-medullary junction time was delayed in patient with decreased glomerular filtration rate. The cortico-pelvic junction time, which is the time when the cortical and pelvic curves cross was 104±33 seconds in patients with normal renal function. The cortico-pelvic junction time was delayed in patients with declined urinary concentrating capacity. In patients with unilateral renal agenesis and patients who were treated surgically by ureteral sprits, the relationship between individual renal functions and these junction times was examined. As a result of study there were inversely significant correlations between C-M junction time and unilateral GFR and between C-P junction time and urinary concentrating capacity. These studies indicate that dynamic CT scanning is an effective way that individual renal function can be monitored and evaluated. (author)

  19. Uterine conserving surgery in a case of cervicovaginal agenesis with unicornuate uterus

    Directory of Open Access Journals (Sweden)

    Vineet Mishra

    2016-01-01

    Full Text Available The presence of cervicovaginal agenesis with unicornuate uterus is a very rare mullerian anomaly. Its true incidence is still unknown. The presence of functioning unicornuate uterus poses a great challenge for a gynecologist because a successful repair could restore normal menses and may preserve a patient′s fertility. Hence, we report a case of 16-year-old unmarried female who presented with chief complaints of primary amenorrhea with cyclical lower abdominal pain. On clinical and radiological evaluation, she was diagnosed with complete cervicovaginal agenesis with right unicornuate uterus (hematometra and hematosalpinx. She underwent vaginoplasty (McIndoes method along with uterovaginal anastomosis by neocervix formation, in order to preserve her uterus. On follow-up, her vagina was completely healed, and she was menstruating normally.

  20. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

    Science.gov (United States)

    Dupré, Nicolas; Howard, Heidi C; Mathieu, Jean; Karpati, George; Vanasse, Michel; Bouchard, Jean-Pierre; Carpenter, Stirling; Rouleau, Guy A

    2003-07-01

    Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. Although this disorder has rarely been reported worldwide, it has a high prevalence in the Saguenay-Lac-St-Jean region of the province of Quebec (Canada) predominantly because of a founder effect. The gene defect responsible for this disorder recently has been identified, and it is a protein-truncating mutation in the SLC12A6 gene, which codes for a cotransporter protein known as KCC3. Herein, we provide the first extensive review of this disorder, covering epidemiological, clinical, and molecular genetic studies.

  1. Isolated left-sided pulmonary artery agenesis with left lung hypoplasia: A report of two cases

    Directory of Open Access Journals (Sweden)

    V Govindaraj

    2017-01-01

    Full Text Available Unilateral absence of pulmonary artery or pulmonary artery agenesis (UAPA is a rare congenital malformation that can present as an isolated lesion or in association with other cardiac anomalies. Though congenital, presentation in adults are also reported. Most common presentation in adults is of exercise intolerance. The developing lung on the affected side is hypoplastic. Diagnosis of UAPA is established by imaging methods like CT and MRI . There is no specific treatment for this condition. Treatment depends on patients symptomatology, presence of pulmonary hypertension and collateral circulation. Presence of pulmonary hypertension carries a bad prognosis. We present two adult patients with isolated left sided unilateral pulmonary artery agenesis with ipsilateral lung hypoplasia. The diagnosis was confirmed by CT chest and perfusion scan.

  2. A rare case of Turner′s syndrome presenting with Mullerian agenesis

    Directory of Open Access Journals (Sweden)

    Suresh Vaddadi

    2013-01-01

    Full Text Available Turner′s syndrome also called as Ullrich Turner′s syndrome, is a disease of unclear pathogenesis characterized by complete or partial absence of one sex chromosome, with or without cell line mosaicism in a phenotypic female with short stature. Various anomalies result in a constellation of features, of which the most disturbing is primary amenorrhea due to gonadal dysgenesis. Hormone therapy in these patients can often result in successful menstruation, and scope for subsequent pregnancy because of anatomically normal uterus and vagina. Coexisting Mullerian agenesis in these patients can jeopardize the chances of future pregnancy as they have associated structural abnormalities of the uterus and vagina. We report a rare case of middle-aged female with Turner′s syndrome and Mullerian agenesis having absent secondary sexual characters and missing uterus with incompletely formed vagina.

  3. Dental root agenesis following radiation and antineoplastic therapy: A Case Report

    Directory of Open Access Journals (Sweden)

    Abdul Hafiz

    2016-01-01

    Full Text Available The survival rates of patients suffering from various childhood neoplasms have improved dramatically with the advent of chemo-radiation therapy. The harmful effects of chemo-radiation therapy in the oro-facial region such as root agenesis, short roots, impaired amelogenesis, dentinogenesis, radiation caries, and other soft tissue pathologies are well recognized. In spite of these documented risks, the antineoplastic treatment modalities continue to serve the patient for overall improvement in survival and quality of life. However, a thorough understanding of the growth and development process and its relation with the complex antineoplastic treatment is very important for all clinicians. Such awareness could significantly improve the status of patients in the posttreatment period with the implementation of proper preventive and interceptive measures. This article intends to document a case of root agenesis that developed secondary to chemo-radiation therapy in a 12-year-old girl.

  4. Agenesis of the dorsal pancreas: systematic review of a clinical challenge

    Directory of Open Access Journals (Sweden)

    Javier A. Cienfuegos

    Full Text Available Background: Agenesis of the dorsal pancreas is a rare malformation. Since 1911 and until 2008, 53 cases have been reported. Several authors have recently described the association of this anomaly with neoplasia of the ventral pancreas, thus we performed a systematic review of the literature from 2008 to 2015. Methods: A systematic review of the Medline and ISI Web of Science Databases from 2008 until 2015 was carried out, and 30 articles which met the inclusion criteria were identified that included a total of 53 patients: 7 children and 46 adults. Conclusions: Although dorsal pancreatic agenesis is a rare malformation, given its association with non-alcoholic pancreatitis and neoplasia of the residual pancreas, physicians should maintain an expectant attitude.

  5. Analysis of renal blood flow and renal volume in normal fetuses and in fetuses with a solitary functioning kidney.

    Science.gov (United States)

    Hindryckx, An; Raaijmakers, Anke; Levtchenko, Elena; Allegaert, Karel; De Catte, Luc

    2017-12-01

    To evaluate renal blood flow and renal volume for the prediction of postnatal renal function in fetuses with solitary functioning kidney (SFK). Seventy-four SFK fetuses (unilateral renal agenesis [12], multicystic dysplastic kidney [36], and severe renal dysplasia [26]) were compared with 58 healthy fetuses. Peak systolic velocity (PSV), pulsatility index (PI), and resistance index (RI) of the renal artery (RA) were measured; 2D and 3D (VOCAL) volumes were calculated. Renal length and glomerular filtration rate (GFR) were obtained in SFK children (2 years). Compared with the control group, the PSV RA was significantly lower in nonfunctioning kidneys and significantly higher in SFK. Volume measurements indicated a significantly larger volume of SFK compared with healthy kidneys. All but 4 children had GFR above 70 mL/min/1.73 m 2 , and compensatory hypertrophy was present in 69% at 2 years. PSV RA and SFK volume correlated with postnatal renal hypertrophy. No correlation between prenatal and postnatal SFK volume and GFR at 2 years was demonstrated. Low PSV RA might have a predictive value for diagnosing a nonfunctioning kidney in fetuses with a SFK. We demonstrated a higher PSV RA and larger renal volume in the SFK compared with healthy kidneys. © 2017 John Wiley & Sons, Ltd.

  6. Feasibility and Efficacy of a Urologic Profession Campaign on Cryptorchidism Using Internet and Social Media.

    Science.gov (United States)

    Borgmann, Hendrik; Kliesch, Sabine; Roth, Stephan; Roth, Mael; Degener, Stephan

    2017-01-01

    We performed a professional campaign in Germany intending to establish the urologic profession as a competent and helpful point of contact for patients with cryptorchidism. The aim of this study was to assess the feasibility of this campaign and to quantify the efficacy of using Internet vs. social media. The strategic design of the campaign comprised a strategy meeting, creation of a landing page, and targeted advertisements on Google in the form of Adwords and on Facebook in the form of sidebar ads and sponsored posts. Outcome measurements were number of impressions, homepage sessions, and downloads of an information brochure. The campaign generated 2,511,923 impressions, 7,369 homepage sessions and 1,086 downloads of information brochures using a total investment budget of 7,500€. Use of Google Adwords was more efficient on outcome measurements than Facebook. A subanalysis of Facebook advertisements showed that sidebar ads and sponsored posts were equally efficient. New media are an effective platform for a profession campaign. Google Adwords is a more effective and cost-efficient platform than Facebook for a targeted campaign. © 2016 S. Karger AG, Basel.

  7. Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly

    Science.gov (United States)

    Hashami, Hilal Al; Bataclan, Maria F; Mathew, Mariam; Krishnan, Lalitha

    2010-01-01

    Caudal regression syndrome is a rare fetal condition of diabetic pregnancy. Although the exact mechanism is not known, hyperglycaemia during embryogenesis seems to act as a teratogen. Independently, caudal regression syndrome (CRS), agenesis of the corpus callosum (ACC) and partial lobar holoprosencephaly (HPE) have been reported in infants of diabetic mothers. To our knowledge, a combination of all these three conditions has not been reported so far. PMID:21509087

  8. Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report.

    Science.gov (United States)

    Hashami, Hilal Al; Bataclan, Maria F; Mathew, Mariam; Krishnan, Lalitha

    2010-04-01

    Caudal regression syndrome is a rare fetal condition of diabetic pregnancy. Although the exact mechanism is not known, hyperglycaemia during embryogenesis seems to act as a teratogen. Independently, caudal regression syndrome (CRS), agenesis of the corpus callosum (ACC) and partial lobar holoprosencephaly (HPE) have been reported in infants of diabetic mothers. To our knowledge, a combination of all these three conditions has not been reported so far.

  9. Learning and memory in individuals with agenesis of the corpus callosum

    OpenAIRE

    Paul, Lynn K.; Erickson, Roger L.; Hartman, Jo Ann; Brown, Warren S.

    2016-01-01

    Damage to long white matter pathways in the cerebral cortex is known to affect memory capacity. However, the specific contribution of interhemispheric connectivity in memory functioning is only beginning to become understood. The present study examined verbal and visual memory processing in individuals with agenesis of the corpus callosum (AgCC) using the Wechsler Memory Scale-Third Edition (WMS-III; Wechsler, 1997b). Thirty participants with AgCC (FSIQ >78) were compared against 30 healthy a...

  10. Congenital scoliosis associated with agenesis of the uterine cervix. Case report

    Directory of Open Access Journals (Sweden)

    Monica Matteo

    2004-06-01

    Full Text Available Abstract Background Alterations in the normal sequence of development of müllerian ducts lead to a wide spectrum of reproductive tract abnormalities. A rare form of lack of development, regarding a short tract of the müllerian ducts, leads to the isolated agenesis of the uterine cervix. Anomalies identified among patients with müllerian agenesis include skeletal deformities (i.e., scoliosis of the spine and Klippel-Feil anomaly. Case presentation A 46 years old woman presenting cyphoscoliosis and very low stature (120 cm – 3,93 feet, came to our observation for acute pelvic pain; she also reported primary amenorrhoea associated with cyclic pelvic pain. Clinical and imaging evaluation, evidenced a blind vaginal duct of normal length, left cystic adnexal mass, and enlarged uterus with hematometra. FSH, LH, 17β estradiol and CA-125, karyotype and radiographic study of limbs and vertebral column were also evaluated. At laparotomy, a left ovarian cyst was found. Uterus ended at the isthmus; under this level a thin fibrous tissue band was found, joining the uterus to the vagina. Uterine cervix was replaced by fibrous tissue containing some dilated glands lined with müllerian epithelium. Karyotype resulted 46, XX. The described skeletal deformity, were consistent with Klippel-Feil syndrome. Conclusion We report a case of congenital scoliosis associated with müllerian agenesis limited to uterine cervix, association thus far seen only among patients with Mayer-Rokitansky-Kuster-Hauser syndrome (utero-vaginal agenesis. This case report supports the necessity to evaluate, for accompanying müllerian anomalies, all cases of congenital structural scoliosis in view of the possibility for many müllerian development abnormalities, if timely diagnosed, to be surgically corrected.

  11. Uterus didelphys with partial vaginal septum and distal vaginal agenesis: an unusual anomaly

    International Nuclear Information System (INIS)

    Singhal, S.R.; Lakra, P.; Bishnoi, P.; Rohilla, S.; Dahiya, P.

    2013-01-01

    Complex malformations of female genital tract are not so common. Their correct identification is of paramount importance for appropriate management. A thorough knowledge of embryology, pre-operative imaging with MRI and examination under anaesthesia is essential to identify accurately the constellation of anomalies and to plan appropriate management. This case reports the coexistence of Mullerian abnormality with vaginal agenesis in an 18 years old girl which was managed by dissecting the lower half of vagina and pull-through vaginoplasty. (author)

  12. Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study.

    Science.gov (United States)

    Machida, J; Nishiyama, T; Kishino, H; Yamaguchi, S; Kimura, M; Shibata, A; Tatematsu, T; Kamamoto, M; Yamamoto, K; Makino, S; Miyachi, H; Shimozato, K; Tokita, Y

    2015-08-01

    Tooth agenesis is one of the most common congenital anomalies in humans. However, the etiology of tooth agenesis remains largely unclear, as well as evidence base useful for genetic counseling. Therefore, we estimated the prevalence and sibling recurrence risk, and investigated agenetic patterns systematically. Tooth agenesis was classified into two subtypes: hypodontia (one to five missing teeth) and oligodontia (six or more missing teeth). The prevalence of these two subtypes were 6.8% [95% confidence interval (CI): 6.1-7.7%] and 0.1% (95% CI: 0.04-0.3%), respectively, and sibling recurrence risk of these were 24.5% (95% CI: 13.8-38.3%) and 43.8% (95% CI: 26.4-62.3%), respectively. This result suggests that the severe phenotype, oligodontia, might be mostly transmitted in a dominant fashion. Using a simple statistical modeling approach, our data were found to be consistent with a bilateral symmetry model, meaning that there was equal probability of missing teeth from the right and left sides. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Effect of Vestibulo-Proprioceptive Stimulations in a Child with Agenesis of the Corpus Callosum

    Directory of Open Access Journals (Sweden)

    Hamid Dalvand

    2010-06-01

    Full Text Available Background and Aim: The purpose of the present study was to investigate the effect of vestibulo-proprioceptive stimulations of sensory integration theory on the development of gross and fine motor, language and personal-social functions in a child with agenesis of the corpus callosum.Case: We report a 10.5 month old boy with agenesis of the corpus callosum. The intervention was administered based on sensory integration theory an hour a week for 20 weeks. The exercise intervention consisted of proprioceptive and linear, sustained and low frequency vestibular stimulations on suspension device and physio roll. A Denver Developmental Screening- II and milestones skill testing was completed pre-intervention and monthly. Post-intervention, age of gross motor, fine motor adaptive, language, and personal-social functions significantly improved. Based on milestones skills, maintenance of gross motor functions (e.g. sitting and quadruped position improved. The child could roll from side to side and released objects voluntarily. The reaction time to auditory stimulations became less than 2 seconds.Conclusion: vestibulo-proprioceptive stimulations using the neuroplasticity ability of the central nervous system is effective for development of gross and fine motor, language, and personal-social functions. These exercises can be administered for a child with agenesis of the corpus callosum.

  14. Use of physical therapy to augment dilator treatment for vaginal agenesis.

    Science.gov (United States)

    McVearry, Mary E; Warner, William B

    2011-05-01

    : Dilator therapy has been used successfully for many years to treat vaginal agenesis. Our objective was to show how established physical therapy techniques can be used to augment dilator therapy. : A 36-year-old woman desiring nonsurgical management of vaginal agenesis was instructed in the use of vaginal dilators by a pelvic-floor physical therapist. Manual stretching of the vaginal tissues was performed during office visits after application of heat and therapeutic ultrasound to the perineum. In addition, the patient's husband was taught how to perform the vaginal stretching at home in conjunction with dilator therapy. : The patient was able to attempt intercourse after 6 weeks of treatment and achieved full penetration by 9 weeks. At the completion of treatment, she scored 31.9 on the Female Sexual Function Index. The patient and her husband were very satisfied with the treatment approach, especially the encouragement and guidance received in physical therapy. : By using established physical therapy techniques in conjunction with dilator therapy, a faster time to intercourse may be achieved with high patient and spouse satisfaction. We recommend the involvement of a physical therapist specializing in the pelvic floor as an adjunct to standard dilator therapy in the treatment of vaginal agenesis.

  15. [The effect of diethylstilbestrol on inducing abdominal cryptorchidism and relevant genetic expression in rats].

    Science.gov (United States)

    Zhang, Lin; Zheng, Xin-min; Zheng, Hang; Yang, Zhi-wei; Li, Shi-wen

    2009-05-01

    To study the effect of diethylstilbestrol (DES) at different doses on transabdominal testicular descent in rats and the expression of INSL3 in the testis and HOXA10 in the gubernaculum. Fifty E13.5 (embryonic day 13.5) pregnant female SD rats were randomly divided into five groups that received a subcutaneous injection of DMSO, 2.5, 5.0, 10.0 and 20.0 mg/kg DES (group A, B, C, D and E), respectively. Male offspring were killed at E19.5, and then fetal mortality, the degree of transabdominal testicular ascent (DTA) was determined by a stereomicroscope. The mRNA expressions of INSL3 in the testis and HOXA10 in the gubernaculum were determined by RT-PCR. The expression of INSL3 protein was determined by Western blotting. Male fetal mortality in group A, B, C, D, and E were 3.57%, 6.90%, 12.00%, 19.23% and 36.36%, respectively, which showed a dose-effect relationship between DES and the male fatal mortality (r=0.999, P0.05), those in other groups were down-regulated significantly (q=12.4304, 17.2477 and 20.2789, respectively, Pdescent dose-dependently via down-regulating the expression of INSL3. HOXA10 may play no role in low-dosage DES induced intra-abdominal cryptorchidism, but down-regulated HOXA10 mRNA was involved in high-dosage DES induced ones.

  16. Risk of cryptorchidism and hypospadias among boys of maternal hairdressers - a Danish population-based cohort study

    DEFF Research Database (Denmark)

    Jørgensen, Kristian Tore; Jensen, Morten Søndergaard; Toft, Gunnar Vase

    2012-01-01

    OBJECTIVES: Pregnant hairdressers may be exposed to a mixture of chemicals in their working environment. The possible relationship between these chemical agents and male reproductive tract malformations has raised concern that the working environment of hairdressers might have adverse effects.......77-1.08) or hypospadias (33 cases, HR 1.27; 95% CI 0.90-1.79) compared to children of mothers in other occupations (14 988 and 2556 cases of cryptorchidism and hypospadias, respectively). Additional analyses using children of shop assistants and receptionists as controls and restricted to (i) firstborns, (ii...

  17. Position and Eruption of Permanent Maxillary Canines in Cases of Maxillary Lateral Incisor Agenesis in Mixed Dentition.

    Science.gov (United States)

    Lamas, Cátia; Lavall, Asela; Pinho, Teresa

    2018-01-01

    Assess whether the permanent maxillary canine (MC) has a natural tendency to erupt mesially in children with maxillary lateral incisors agenesis (MLIA), compared to children without agenesis. This retrospective, observational, cross-sectional study consisted of children between 5 and 12 years old divided into three groups: the first group with unilateral MLIA, in which an intraindividual analysis was performed, the second group presented bilateral MLIA, and the third group with patients without agenesis. These last two groups were matched for comparison interindividual, being pared by sex and maturation of the MC. The canine position in the horizontal sector showed a clear mesial positioning of the MC on the agenesis side in individuals with unilateral MLIA (group 1) when compared with the counter lateral side; and in individuals with bilateral MLIA (Group 2) compared with control Individuals without agenesis (group 3). Even with the maintenance of this deciduous tooth in the dental arch, the MC keeps its tendency to mesial eruption. There is a greater tendency for mesial angulation of the maxillary canine in patients with MLIA, regardless of the presence or absence of deciduous lateral incisor.

  18. Renal Osteodystrophy

    Directory of Open Access Journals (Sweden)

    Aynur Metin Terzibaşoğlu

    2004-12-01

    Full Text Available Chronic renal insufficiency is a functional definition which is characterized by irreversible and progressive decreasing in renal functions. This impairment is in collaboration with glomeruler filtration rate and serum creatinine levels. Besides this, different grades of bone metabolism disorders develop in chronic renal insufficiency. Pathologic changes in bone tissue due to loss of renal paranchyme is interrelated with calcium, phosphorus vitamine-D and parathyroid hormone. Clinically we can see high turnover bone disease, low turnover bone disease, osteomalacia, osteosclerosis and osteoporosis in renal osteodystropy. In this article we aimed to review pathology of bone metabolism disorders due to chronic renal insufficiency, clinic aspects and treatment approaches briefly.

  19. Functional aspects of treatment with implant-supported single crowns: a quality control study in subjects with tooth agenesis

    DEFF Research Database (Denmark)

    Goshima, Kenichi; Lexner, Michala O; Thomsen, Carsten Eckhart

    2010-01-01

    -Related Quality of Life (OHRQoL) in subjects with tooth agenesis. MATERIAL AND METHODS: In nine females and nine males (32 + or - 10 years) with agenesis treated with one to four ISSC (68% in the premolar region), the treatment effect and masticatory function were assessed. The evaluation was performed first...... after implant placement shortly before crown cementation, and again 1 month after cementation. It consisted of questionnaires [including Oral Health Impact Profile (OHIP-49)] and functional examination with plastic strips, the Dental Prescale Film and the Occluzer system, Xylitol color-changeable gum...... with ISSCs in subjects with tooth agenesis significantly increased masticatory function subjectively and clinically as well as OHRQoL. However, as the functional parameters before replacement of the teeth corresponded to values in subjects with complete dentitions, the functional importance of the increase...

  20. Tooth agenesis in patients referred to an Irish tertiary care clinic for the developmental dental disorders.

    LENUS (Irish Health Repository)

    Hashem, Atef A

    2010-01-01

    PURPOSE: This study was carried out to determine the prevalence, severity and pattern of hypodontia in Irish patients referred to a tertiary care clinic for developmental dental disorders. MATERIALS AND METHODS: Details of 168 patients with hypodontia referred during the period 2002-2006 were entered in a database designed as a national record. Tooth charting was completed using clinical and radiographic examinations. The age of patients ranged from 7-50 years, with a median age of 20 years (Mean: 21.79; SD: 8.005). RESULTS: Hypodontia referrals constituted 65.5% of the total referrals. Females were more commonly affected than males with a ratio of 1.3:1. The number of referrals reflected the population density in this area; the majority were referrals from the public dental service. Mandibular second premolars were the most commonly missing teeth, followed by maxillary second premolars and maxillary lateral incisors; maxillary central incisors were the least affected. Symmetry of tooth agenesis between the right and left sides was an evident feature. Slightly more teeth were missing on the left side (n = 725) than on the right side (n = 706) and in the maxillary arch (n = 768) as compared to the mandibular arch (n = 663). Some 54% of patients had severe hypodontia with more than six teeth missing; 32% had moderate hypodontia, with four to six teeth missing. The most common pattern of tooth agenesis was four missing teeth. CONCLUSION: Hypodontia was a common presentation in a population referred to this tertiary care clinic. The pattern and distribution of tooth agenesis in Irish patients appears to follow the patterns reported in the literature.

  1. Prosthetic replacement vs space closure for maxillary lateral incisor agenesis: A systematic review.

    Science.gov (United States)

    Silveira, Giordani Santos; de Almeida, Natália Valli; Pereira, Daniele Masterson Tavares; Mattos, Cláudia Trindade; Mucha, José Nelson

    2016-08-01

    Defining the best treatment for maxillary lateral incisor agenesis is a challenge. Our aim in this study was to determine, with the evidence available in the literature, the best treatment for maxillary lateral incisor agenesis in the permanent dentition, evaluating the esthetic, occlusal (functional), and periodontal results between prosthetic replacement and orthodontic space closure. Electronic databases (CENTRAL, PubMed, Web of Science, Scopus, and LILACS) were searched in September 2014 and updated in January 2015, with no restriction on language or initial date. A manual search of the reference lists of the potential studies was performed. Risk of bias was assessed by the Newcastle Ottawa Scale. The search identified 2174 articles, of which 1196 were excluded because they were duplicates. Titles and abstracts of 978 articles were accessed, and 957 were excluded. In total, 21 articles were read in full, and 9 case-control studies were included after applying the inclusion and exclusion criteria. Data were extracted from the articles selected, and a table was compiled for comparison and analysis of the results. There were no randomization and blinding, and the risk of bias evaluation found gaps in compatibility and outcome domains in almost all selected studies. Tooth-supported dental prostheses of maxillary lateral incisor agenesis had worse scores in the periodontal indexes than did orthodontic space closure. Space closure is evaluated better esthetically than prosthetic replacements, and the presence or absence of a Class I relationship of the canines showed no relationship with occlusal function or with signs and symptoms of temporomandibular disorders. Copyright © 2016 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  2. Agenesis of mandibular second premolar in patient with dental bimaxillary protrusion

    Directory of Open Access Journals (Sweden)

    Carlos Alberto Estevanell Tavares

    Full Text Available ABSTRACT The present study reports the treatment carried out in a patient with mandibular second premolar agenesis associated with early loss of a deciduous second molar, deep overbite, severe overjet and dentoalveolar bimaxillary protrusion, which led to lip incompetence and a convex facial profile. The main objectives of this treatment were: to eliminate the spaces in mandibular arch, correct overbite, as well as eliminate bimaxillary protrusion and lip incompetence, thus leading to a balanced profile. The case was presented to the Brazilian Board of Orthodontics and Dentofacial Orthopedics (BBO as part of the requirements to obtain the title of BBO diplomate.

  3. Hypocalcaemia, Hypoglycaemia, Macrosomia and Congenital Cryptorchidism in a Male Offspring of a Mother with Overweight and Gestational Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Onyiriuka Alphonsus N.

    2016-12-01

    Full Text Available This paper reports a case of a male infant born to a 32-year-old multiparous mother with overweight (BMI 28.5kg/m2 and gestational diabetes mellitus (GDM. The mother had fasting hyperglycaemia (range 5.7- 6.0mmol/L noted at 24 weeks of pregnancy and was managed with diet alone. There is no family history of diabetes mellitus and the mother did not have pre-eclampsia. Physical examination of the infant revealed macrosomia (birthweight, 4600g and bilateral congenital cryptorchidism. The baby suffered severe hypoglycaemia (blood glucose 1.7mmol/L and hypocalcaemia (total serum calcium 1.03mmol/L, manifesting with seizures. He was successfully managed with 10% dextrose water and calcium gluconate infusion, using standard protocol. His karyotype is 46 XY. The patient was discharged from admission at the age of 10 days and was referred to the paediatric endocrinologist at the tertiary hospital. By 8 weeks of age, the right testis was noticed to have descended into the right scrotum. At the age of 3 months, the left testis was still not palpable either in the inguinal canal or the scrotal sac. The patient was lost to follow up. Conclusion: Diet-treated maternal overweight in association with GDM could potentially increase the risk for hypocalcaemia, hypoglycaemia, macrosomia and congenital cryptorchidism in the offspring, highlighting the need for physicians to assess for the presence of these morbidities in such infants.

  4. Renal venogram

    Science.gov (United States)

    ... be black. Other structures will be shades of gray. Veins are not normally seen in an x- ... Venogram - kidney; Renal vein thrombosis - venogram Images Kidney anatomy Kidney - blood and urine flow Renal veins References ...

  5. Orthodontic management of bilateral maxillary canine-first premolar transposition and bilateral agenesis of maxillary lateral incisors: a case report.

    Science.gov (United States)

    Di Palma, Elena; Di Giuseppe, Biagio; Tepedino, Michele; Chimenti, Claudio

    2015-01-01

    Maxillary canine-first premolar transposition (Mx.C.P1) is an uncommon dental positional anomaly that may create many orthodontic problems from both esthetic and functional points of view. In this report we show the orthodontic management of a case of Mx.C.P1 associated with bilateral maxillary lateral incisor agenesis and unilateral mandibular second premolar agenesis The patient was treated with a multibracket appliance and the extraction of the lower premolar. treatment was completed without the need for any prosthetic replacement.

  6. Unilateral Complete Agenesis of Mesonephric Duct Derivatives in an 82-year-Old Male Cadaver: Embryology, Anatomy and Clinical Considerations

    Directory of Open Access Journals (Sweden)

    David G. Darcy

    2017-11-01

    Full Text Available Development of urogenital anatomy in the human fetus is the result of a complex interplay between multiple different tissues. The time course of development is well documented and the morphologic outcomes of insults at various time points during development are predictable. We present a cadaveric case of unilateral agenesis of the left kidney, ureter, bladder hemitrigone, ureteric opening, seminal vesicle, vas deferens, and epididymis. Failure of development of the mesonephric duct early during embryogenesis, likely between the third and fifth week, caused ipsilateral urogenital organ agenesis.

  7. The incidence of bilateral cryptorchidism is increased and the fertility potential is reduced in sons born to mothers who have smoked during pregnancy

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Cortes, D; Petersen, B L

    2006-01-01

    Recent studies have demonstrated a high prevalence of cryptorchidism, decreasing semen quality and increasing incidence of testicular cancer. These changes seem to be interrelated, and may be symptoms of a common underlying entity with foundations in fetal life. We investigated the influence...

  8. Intrauterine exposure to mild analgesics during pregnancy and the occurrence of cryptorchidism and hypospadia in the offspring: the Generation R Study

    DEFF Research Database (Denmark)

    Snijder, Claudia A.; Kortenkamp, Andreas; Steegers, Eric A.P.

    2012-01-01

    BACKGROUND: Recently, over-the-counter mild analgesic use during pregnancy has been suggested to influence the risk of reproductive disorders in the offspring. We examined the influence of maternal exposure to mild analgesics during pregnancy on the occurrence of cryptorchidism and hypospadia in ...

  9. Unilateral and bilateral cryptorchidism and its effect on the testicular morphology, histology, accessory sex organs, and sperm count in laboratory mice

    Directory of Open Access Journals (Sweden)

    Soumita Dutta

    2013-01-01

    Full Text Available Background: Experimental unilateral cryptorchidism (ULC and bilateral cryptorchidism (BLC are excellent methods to study undescended testis in relation to spermatogenesis against a temperature gradient. Objectives: In case of ULC, it is possible to compare the testicular functions between normal condition and cryptorchidism in the same animal, whereas BLC shows the necessity of testicular androgens for proper maintenance of reproductive structures and functions. Materials and Methods: In the present study, experimental ULC and BLC was done on same-aged adult mature male mice and kept for 15 days and 30 days, respectively, to observe the changes due to the induced cryptorchidism on the different reproductive organs, viz., the testis and accessory sex organs along with epididymal sperm count. Reproductive tissues were collected from individual animals and histopathological studies of testis were done to investigate different cytological changes. Results: The size of the testes and accessory sex organs were found to be significantly reduced in BLC mice, whereas only testicular weight reduction was observed in ULC mice. Histopathological studies showed degenerative changes throughout the seminiferous tubules. Conclusion: Thus, the present investigation showed compensatory androgen production in ULC mice, whereas absence of androgen mediated reproductive functions in BLC animals.

  10. Agenesis of the gallbladder with hypoplastic cystic duct diagnosed at laparoscopy.

    Science.gov (United States)

    Kwon, A-Hon; Yanagimoto, Hiroaki; Matsui, Yoichi; Imamura, Atsushi

    2006-08-01

    An 86-year-old man was admitted to our department with complaints of intermittent upper abdominal pain. Ultrasonography of the abdomen showed dilated extrahepatic bile ducts containing stones; however, the gallbladder was not clearly identified. Magnetic resonance cholangiopancreatography showed dilated extrahepatic ducts and choledocholithiasis without gallbladder visualization. The stone extraction was performed with endoscopic sphincterotomy. Three-dimensional images using spiral-computed tomography after intravenous-infusion cholangiography clearly demonstrated an obstruction of the cystic duct. The patient was scheduled for laparoscopic cholecystectomy. At laparoscopy, the gallbladder fossa was not identified on the undersurface of the liver. Despite a thorough examination of the intrahepatic (left-sided within the lesser omentum), retroperitoneal, retrohepatic (within the falciform ligament), retroduodenal, and retropancreatic areas using laparoscopic ultrasonography, the gallbladder was not found. After careful dissection of the hepatoduodenal ligament, the dilated extrahepatic bile duct and a 1-cm length of hypoplastic cystic duct were found. Gallbladder agenesis is usually accompanied by the lack of the cystic duct. The present case is the third report of gallbladder agenesis with a patent or hypoplastic cystic duct.

  11. Nonsyndromic tooth agenesis patterns and associated developmental dental anomalies: a literature review with radiographic illustrations.

    Science.gov (United States)

    Agarwal, P; Vinuth, D P; Dube, G; Dube, P

    2013-01-01

    Tooth agenesis is one of the most intriguing phenomena, because it is frequently associated with other oral anomalies, structural variations and malformations of other teeth, late eruption, transposition and crowding. The diagnosis can be quite challenging as radiographic examination is critical for the diagnosis but not always possible and the late developing teeth may be sometimes scored developmentally missing. Accurate diagnosis therefore requires radiographic, clinical, and dental cast examinations. It is an important clinical and public health problem. Patients with missing permanent teeth may suffer from a reduced chewing ability, inarticulate pronunciation, and an unfavorable aesthetic appearance. Clinically, early diagnosis of a dental anomaly can alert the clinician to the possible development of other associated dental anomalies in the same patient or family, and avoid the possible sequelae. Understanding of tooth agenesis patterns and their impact on diagnosis, prevention, and eventually therapeutics are becoming integral parts of comprehensive dental care. Dental examination with radiographic screening of hypodontia in early childhood should be emphasized as part of public oral health policy to allow early diagnosis and timely intervention.

  12. Prevalence and distribution of dental anomalies: a comparison between maxillary and mandibular tooth agenesis.

    Science.gov (United States)

    Al-Abdallah, Mariam; AlHadidi, Abeer; Hammad, Mohammad; Al-Ahmad, Hazem; Saleh, Raja'

    2015-11-01

    The aim of this study was to compare the pattern and prevalence of associated dental anomalies between maxillary and mandibular tooth agenesis (hypodontia). A sample of 3315 dental patients, aged 8.6 to 25.4 years, was surveyed for tooth agenesis (excluding third molars): 106 subjects were diagnosed with maxillary hypodontia (group 1) and 70 with mandibular hypodontia (group 2). Both groups were examined for the following dental anomalies: retained deciduous molars, infraocclusion of deciduous molars, impaction, microdontia of maxillary lateral incisors, supernumerary teeth, transposition, transmigration, and ectopic eruption of the permanent molars. For statistical testing, the chi-square test (P anomalies among the groups. We found that 77.5% of the patients in the mandibular hypodontia group had at least 1 dental anomaly compared with 49.5% in the maxillary hypodontia group (P dental anomaly with a significantly increased prevalence in the maxillary hypodontia group compared with the mandibular hypodontia group was microdontia of the maxillary lateral incisors (groups 1, 46.7%; group 2, 12.9%; P dental development in both jaws. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  13. Organic Food Consumption during Pregnancy and Hypospadias and Cryptorchidism at Birth: The Norwegian Mother and Child Cohort Study (MoBa).

    Science.gov (United States)

    Brantsæter, Anne Lise; Torjusen, Hanne; Meltzer, Helle Margrete; Papadopoulou, Eleni; Hoppin, Jane A; Alexander, Jan; Lieblein, Geir; Roos, Gun; Holten, Jon Magne; Swartz, Jackie; Haugen, Margaretha

    2016-03-01

    The etiologies of the male urogenital anomalies hypospadias and cryptorchidism remain unclear. It has been suggested that maternal diet and environmental contaminants may affect the risk of these anomalies via placental or hormonal disturbances. We examined associations between organic food consumption during pregnancy and prevalence of hypospadias and cryptorchidism at birth. Our study includes 35,107 women participating in the Norwegian Mother and Child Cohort Study (MoBa) who delivered a singleton male infant. Information about use of six groups of organically produced food (vegetables, fruit, bread/cereal, milk/dairy products, eggs, and meat) during pregnancy was collected by a food frequency questionnaire. Women who indicated that they sometimes, often, or mostly consumed organic foods in at least one of the six food groups were classified as organic food consumers in analyses. Hypospadias and cryptorchidism diagnoses were retrieved from the Medical Birth Registry of Norway. We estimated odds ratios (ORs) and 95% confidence intervals (CIs) using multiple logistic regression. Seventy-four male newborns were diagnosed with hypospadias (0.2%), and 151 with cryptorchidism (0.4%). Women who consumed any organic food during pregnancy were less likely to give birth to a boy with hypospadias (OR = 0.42; 95% CI: 0.25, 0.70, based on 21 exposed cases) than women who reported they never or seldom consumed organic food. Associations with specific organic foods were strongest for vegetable (OR = 0.36; 95% CI: 0.15, 0.85; 10 exposed cases) and milk/dairy (OR = 0.43; 95% CI: 0.17, 1.07; 7 exposed cases) consumption. No substantial association was observed for consumption of organic food and cryptorchidism. Consumption of organically produced foods during pregnancy was associated with a lower prevalence of hypospadias in our study population. These findings were based on small numbers of cases and require replication in other study populations.

  14. Ethnic patterns of hypospadias in New Zealand do not resemble those observed for cryptorchidism and testicular cancer: evidence of differential aetiology?

    Science.gov (United States)

    Gurney, J K; Stanley, J; Shaw, C; Sarfati, D

    2016-01-01

    It has been proposed that hypospadias, cryptorchidism, poor semen quality and testicular cancer might share common prenatal causes. We have previously demonstrated similar ethnic patterns for the incidence of testicular cancer and cryptorchidism - a known risk factor for testicular cancer. If the underlying exposure(s) that cause hypospadias, cryptorchidism and testicular cancer are shared, then we would expect the incidence relationship between ethnic groups to follow the same pattern across all three conditions. We followed a birth cohort of 318 345 eligible male neonates born in New Zealand between 2000-2010, and linked routinely collected maternity records with inpatient hospitalization and mortality records through to 2011. We searched hospitalization records for diagnoses of hypospadias, and used mortality records for censoring. We used Poisson regression methods to compare the relative risk of hypospadias between ethnic groups, adjusting for perinatal risk factors and total person time. We observed that European/Other children had the highest risk of hypospadias, with Māori, Pacific and Asian boys having around 40% lower risk of disease compared with this group (adjusted relative risk [RR]: Māori 0.62, 95% CI 0.55-0.70; Pacific 0.62, 95% CI 0.53-0.72; Asian 0.57, 95% CI 0.47-0.69). This contrasts substantially with our previous observations for cryptorchidism and testicular cancer, where Māori males have the greatest risk. Our observations suggest that - at least in New Zealand - the exposures that drive the development of hypospadias may differ to those that that drive the development of cryptorchidism and/or testicular cancer. © 2015 American Society of Andrology and European Academy of Andrology.

  15. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

    International Nuclear Information System (INIS)

    Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali

    2015-01-01

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management

  16. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali [Dept. of Conservative Dentistry and Endodontics, Manubhai Patel Dental College, Maharaja Krishnakumarsinhji Bhavnagar University, Vadodara (India)

    2015-09-15

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

  17. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.

    Science.gov (United States)

    Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali

    2015-09-01

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

  18. Renal perfusion scintiscan

    Science.gov (United States)

    ... Radionuclide renal perfusion scan; Perfusion scintiscan - renal; Scintiscan - renal perfusion Images Kidney anatomy Kidney - blood and urine flow Intravenous pyelogram References Rottenberg G, Andi AC. Renal ...

  19. A Correlation between Renal Anomalies and Vesicoureteral Reflux

    International Nuclear Information System (INIS)

    Kim, Seung Soo; Kim, Young Tong; Kim, Il Young; Shin, Hyeong Cheol

    2011-01-01

    To investigate the frequency of vesicoureteral reflux (VUR) in children with renal anomalies a evaluate the correlation between renal anomalies and VUR. Eighty-one children (1 day-8 years) with renal anomalies underwent voiding cystourethrogram between 2006 and 2009 were reviewed. This study included ureteropelvic junction stenosis (n = 32), ureteropelvic duplication (n = 20), multicystic dysplastic kidney (n = 12), fusion anomaly (n = 11), renal agenesis (n = 3), unilateral renal hypoplasia (n = 2), and ectopic kidney (n = 1). The frequency, grade, and location of VUR were evaluated. The grade of VUR according to age and anomaly type was statistically analyzed, and the patients with VUR were followed. The VUR was present in 14 (17.3%); ipsilateral VUR was present in 8 (57.1%), bilateral VUR in 4 (28.6%), and contralateral VUR in 2 (14.2%). VUR was detected in 9 patients under the age of one. There was no statistical correlation between VUR grade and either age or anomaly type of the nine patients showed continuous VUR on up. The frequency of VUR in children with renal anomalies was 17.3%. VUR was most frequently detected in children under the age of one, and VUR grade was not related to age and anomaly type.

  20. A Correlation between Renal Anomalies and Vesicoureteral Reflux

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Seung Soo; Kim, Young Tong; Kim, Il Young; Shin, Hyeong Cheol [Dept. of Radiology, Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan (Korea, Republic of)

    2011-12-15

    To investigate the frequency of vesicoureteral reflux (VUR) in children with renal anomalies a evaluate the correlation between renal anomalies and VUR. Eighty-one children (1 day-8 years) with renal anomalies underwent voiding cystourethrogram between 2006 and 2009 were reviewed. This study included ureteropelvic junction stenosis (n = 32), ureteropelvic duplication (n = 20), multicystic dysplastic kidney (n = 12), fusion anomaly (n = 11), renal agenesis (n = 3), unilateral renal hypoplasia (n = 2), and ectopic kidney (n = 1). The frequency, grade, and location of VUR were evaluated. The grade of VUR according to age and anomaly type was statistically analyzed, and the patients with VUR were followed. The VUR was present in 14 (17.3%); ipsilateral VUR was present in 8 (57.1%), bilateral VUR in 4 (28.6%), and contralateral VUR in 2 (14.2%). VUR was detected in 9 patients under the age of one. There was no statistical correlation between VUR grade and either age or anomaly type of the nine patients showed continuous VUR on up. The frequency of VUR in children with renal anomalies was 17.3%. VUR was most frequently detected in children under the age of one, and VUR grade was not related to age and anomaly type.

  1. [Is there either agenesis or regression of the Mullerian duct in female bird embryos under the influence of male hormone?].

    Science.gov (United States)

    Lutz-Ostertag, Y; Lutz, H

    1976-01-01

    The natural occurence of "Free-Martinism" in Birds and the chorio-allantoïc grafting experiments of testis fragments on female chick host-embryos allow to the authors to define the manner provoking the entire or partial disappearance of the müllerian ducts and to state exactly if the phenomenon is a agenesis or a regression.

  2. Radiographic assessment of agenesis, impaction, and pararadicular radiolucencies in relation with third molar in Nashik City of Maharashtra

    Directory of Open Access Journals (Sweden)

    Bhushan Sukdeo Ahire

    2016-01-01

    Full Text Available Introduction: The third molar develops entirely after birth and also it is the last tooth to erupt in all ethnic groups despite racial variations in the eruption sequence. Tooth development with effects on tooth size, shape, position, and total absence is affected due to environmental factors, systemic diseases, genetic polymorphisms, and teratogens. Aims and Objectives: The aim of this study was to assess the prevalence of agenesis, impaction, and pararadicular radiolucencies in relation with third molars. Materials and Methods: One hundred digital orthopantomograph (OPG scans of patients of age ranging from 18 to 25 years were selected randomly from the digital OPG database of the Department of Oral Medicine and Radiology, and then assessment and analysis were carried out. Results: Overall agenesis rate was about 14.5%. Bilateral agenesis of maxillary and mandibular third molars was about 14% and 13%, respectively. Overall impaction rate was about 21.92%. Mesioangular impaction rate was about 57.33% whereas distoangular impaction rate was about 26.66%. Prevalence of pararadicular radiolucencies was only about 0.8% with mandibular predilection. Conclusion: As the agenesis of the third molars is increasing, they can be considered as vestigial. Prevalence of impaction of the third molars is increasing. Pararadicular radiolucencies are mostly seen with mandibular third molar.

  3. Analysis of the golden proportion and width/height ratios of maxillary anterior dentition in patients with lateral incisor agenesis.

    Science.gov (United States)

    Pini, Núbia Pavesi; de-Marchi, Luciana Manzotti; Gribel, Bruno Frazão; Ubaldini, Adriana Lemos Mori; Pascotto, Renata Corrêa

    2012-12-01

      The purpose of this study was to assess the presence of the golden proportion (GP) in the facial view tooth-to-tooth width proportion of the six maxillary anterior teeth and to evaluate the width/height (W/H) ratios of the incisors of patients with maxillary lateral incisor (LI) agenesis treated either with implants or orthodontically (by moving canines into the position of the laterals, recontouring them, and placing composite restorations over the repositioned teeth).   Forty-eight patients with LI agenesis were divided into four experimental groups: unilateral recontouring group (N = 10), bilateral recontouring group (BRG, N = 18), unilateral implant group (UIG, N = 10), bilateral implant group (N = 10), and a control group (CG, N = 25) of patients without agenesis. GP ratios were determined on patients' dental casts placed over Levin's grids, whereas W/H ratios were measured directly on the casts and a millimeter ruler to determine these distances. Statistical analysis was performed with Shapiro-Wilk, Kruskal-Wallis, Mann-Whitney, Friedman, and Wilcoxon tests (p mean W/H ratios of the laterals ranged between 0.75 and 0.90.   Although the GP may be a useful diagnostic guide, it was not observed in the majority of esthetic outcomes of patients treated with maxillary LI agenesis in this study. The assessment of the golden proportion and width/height ratio of upper anterior teeth in patients with upper lateral incisor agenesis treated with either implants or tooth re-contouring may assist dentists and patients in deciding the best treatment option based on the peculiarities of each case. © 2012 Wiley Periodicals, Inc.

  4. Occurrence of hypospadias in a 2 month old male Holstein calf along with cryptorchidism and umbilical hernia

    Directory of Open Access Journals (Sweden)

    akbar arfaei akhoole

    2017-04-01

    Full Text Available Hypospadias is a congenital problem reported in dogs, sheep and goats and occurrence of this anomaly in calves is rare. In fact, hypospadias is congenital absence of the urethra. In October 2015, a client attended the veterinary clinic for treatment of a 2 month old calf. Physical examination was performed following anamnesis. Vital signs including heart and respiratory rates, body temperature and peristaltic movements of the gastrointestinal system were normal. Examination of the urinary system revealed aplasia of the urethra at the perineum from beneath the rectum to the end of the penis and the calf was diagnosed with hypospadias. Physical examination also revealed the presence of an umbilical hernia with diameter of 6 cm and cryptorchidism. After diagnosis, the defect was corrected by surgical method to alleviate its side effects. Six months after surgical correction, the calf had satisfactory growth rate.

  5. RENAL CRYOABLATION

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    A. V. Govorov

    2012-01-01

    Full Text Available Renal cryoablation is an alternative minimally-invasive method of treatment for localized renal cell carcinoma. The main advantages of this methodology include visualization of the tumor and the forming of "ice ball" in real time, fewer complications compared with other methods of treatment of renal cell carcinoma, as well as the possibility of conducting cryotherapy in patients with concomitant pathology. Compared with other ablative technologies cryoablation has a low rate of repeat sessions and good intermediate oncological results. The studies of long-term oncological and functional results of renal cryoablation are presently under way.

  6. Mullerian agenesis associated with in-utero thalidomide exposure: A case report

    Directory of Open Access Journals (Sweden)

    Sarah Dotters-Katz

    2013-09-01

    Full Text Available Thalidomide is a well-known teratogen, which is experiencing resurgence as new uses are identified. Exposure is classically associated with limb deformities, such as: dysmelia, phocomelia, preaxial hypoplasia and polydactyly, in addition to visceral anomalies that have been documented as well. We report a case of a 38 year-old nulligravid female, who was previously evaluated for primary amenorrhea, and given the presumptive false diagnosis of an imperforate hymen. On magnetic resonance imaging (MRI exam, she was noted to have uterovaginal agenesis. The implications of thalidomide on women’s health extend beyond external birth defects. Although, most commonly associated with limb deformities, there may also be gynecologic implications of in utero exposure. As this medication is increasingly used for various medical conditions, obstetricians/gynecologists need to remain aware of this potential mullerian teratogenic effect.

  7. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.

    Science.gov (United States)

    Danhauser, Katharina; Haack, Tobias B; Alhaddad, Bader; Melcher, Marlen; Seibt, Annette; Strom, Tim M; Meitinger, Thomas; Klee, Dirk; Mayatepek, Ertan; Prokisch, Holger; Distelmaier, Felix

    2016-06-01

    Mitochondrial aminoacyl tRNA synthetases are essential for organelle protein synthesis. Genetic defects affecting the function of these enzymes may cause pediatric mitochondrial disease. Here, we report on a child with fatal neonatal lactic acidosis and recurrent hypoglycemia caused by mutations in EARS2, encoding mitochondrial glutamyl-tRNA synthetase 2. Brain ultrasound revealed agenesis of corpus callosum. Studies on patient-derived skin fibroblasts showed severely decreased EARS2 protein levels, elevated reactive oxygen species (ROS) production, and altered mitochondrial morphology. Our report further illustrates the clinical spectrum of the severe neonatal-onset form of EARS2 mutations. Moreover, in this case the live-cell parameters appeared to be more sensitive to mitochondrial dysfunction compared to standard diagnostics, which indicates the potential relevance of fibroblast studies in children with mitochondrial diseases.

  8. Renal cancer.

    NARCIS (Netherlands)

    Corgna, E.; Betti, M.; Gatta, G.; Roila, F.; Mulder, P.H.M. de

    2007-01-01

    In Europe, renal cancer (that is neoplasia of the kidney, renal pelvis or ureter (ICD-9 189 and ICD-10 C64-C66)) ranks as the seventh most common malignancy in men amongst whom there are 29,600 new cases each year (3.5% of all cancers). Tobacco, obesity and a diet poor in vegetables are all

  9. Renal cancer

    NARCIS (Netherlands)

    Corgna, Enrichetta; Betti, Maura; Gatta, Gemma; Roila, Fausto; De Mulder, Pieter H. M.

    2007-01-01

    In Europe, renal cancer (that is neoplasia of the kidney, renal pelvis or ureter (ICD-9 189 and ICD-10 C64-C66)) ranks as the seventh most common malignancy in men amongst whom there are 29,600 new cases each year (3.5% of all cancers). Tobacco, obesity and a diet poor in vegetables are all

  10. A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans

    DEFF Research Database (Denmark)

    Brophy, Patrick D.; Rasmussen, Maria; Parida, Mrutyunjaya

    2017-01-01

    investigations have identified several gene variants that cause RA, including EYA1, LHX1, and WT1 However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans. In this study, we...... in humans....

  11. Penetrating trauma to the kidney and Meckel’s Diverticulum in a patient with unilateral renal agenesis

    Directory of Open Access Journals (Sweden)

    Sanju Sobnach

    2015-01-01

    Conclusion: Although congenital visceral anomalies are spectacular findings at laparotomy, they should not distract the trauma surgeon. Adhering to damage control surgery principles and careful inspection of the peritoneal cavity for further abnormalities remain the mainstay of successful management.

  12. A cross-sectional analysis of the prevalence of tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients.

    Science.gov (United States)

    Konstantonis, Dimitrios; Alexandropoulos, Alexandros; Konstantoni, Nikoleta; Nassika, Maria

    2017-12-01

    The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables. Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented tooth agenesis was associated with the side of the cleft. Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

  13. Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.

    Science.gov (United States)

    Park, Min A; Shin, So Youn; Kim, Young Jin; Park, Myung Jae; Lee, Seung Hyeun

    2017-11-01

    Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. When a patient initially presents only with pulmonary complications, it is not easy for clinicians to suspect vEDS. We report a case of an 18-year-old high school student, with a past history of cryptorchidism, presenting with recurrent pneumothorax. Routine laboratory findings were unremarkable. Chest high resolution computed tomographic scan showed age-unmatched hyperinflation of both lungs, atypical cystic changes and multifocal ground glass opacities scattered in both lower lobes. His slender body shape, hyperflexible joints, and hyperextensible skin provided clue to suspicion of a possible connective tissue disorder. The histological examination of the lung lesions showed excessive capillary proliferation in the pulmonary interstitium and pleura allowing the diagnosis of pulmonary capillary hemangiomatosis (PCH)-like foci. Genetic study revealed COL3A1 gene splicing site mutation confirming his diagnosis as vEDS. Although his diagnosis vEDS is notorious for fatal vascular complication, there was no evidence of such complication at presentation. Fortunately, he has been followed up for 10 months without pulmonary or vascular complications. To the best of our knowledge, both cryptorchidism and PCH-like foci have never been reported yet as complications of vEDS, suggesting our case might be a new variant of this condition. This case emphasizes the importance of comprehensive physical examination and history-taking, and the clinical

  14. Renal scan

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/003790.htm Renal scan To use the sharing features on this ... anaphylaxis . Alternative Names Renogram; Kidney scan Images Kidney anatomy Kidney - blood and urine flow References Chernecky CC, ...

  15. Renal Hemangiopericytoma

    Directory of Open Access Journals (Sweden)

    İbrahim Halil Bozkurt

    2015-03-01

    Full Text Available Hemangiopericytoma is an uncommon perivascular tumor originating from pericytes in the pelvis, head and tneck, and the meninges; extremely rarely in the urinary system. We report a case of incidentally detected renal mass in which radiologic evaluation was suggestive of renal cell carcinoma. First, we performed partial nephrectomy, and then, radical nephrectomy because of positive surgical margins and the pathological examination of the surgical specimen that revealed a hemangiopericytoma. No additional treatment was administered.

  16. A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism

    Directory of Open Access Journals (Sweden)

    Michiko Miki

    2016-05-01

    Full Text Available Purpose: To report a case of ocular albinism found in a newborn infant in whom agenesis of the corpus callosum (ACC was indicated in utero. Case Report: This study involved a female newborn who was delivered after a gestational period of 41 weeks. The patient was referred to the Obstetrics Department at Takatsuki Hospital, Takatsuki City, Japan, after the indication of ACC by magnetic resonance imaging (MRI at a nearby clinic during the fetal period. At birth, the baby’s weight was 2,590 g, and ACC and ventricular enlargement were found by cranial sonography and cranial MRI. While initial ophthalmic findings noted partial loss of pigmentation of the iris and hypopigmentation of broad areas of the fundus in both eyes, nystagmus was not observed. The patient’s hair pigment was slightly diluted, and the color of her skin was slightly off-white. At 2 years after birth, obvious mental retardation was observed. With regard to other systemic findings, no apparent heart, kidney, or immune system abnormalities were found. Conclusion: Although the patient in question is presently growing without any major systemic problems, it will be necessary in the future to pay attention to any changes in systemic and ophthalmic findings.

  17. Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Go Miyano

    2015-01-01

    Full Text Available We describe herein a case of unilateral pulmonary agenesis (PA with oesophageal atresia (EA/tracheoesophageal fistula (TEF that was diagnosed prenatally and repaired by esophagoesophagostomy with stable postoperative course. The patient was born at 34 weeks gestation, after ultrasonography at 22 weeks gestation showed possible right-sided diaphragmatic eventration or PA and EA was subsequently suspected due to hydramnios. The initial X-ray showed mediastinal shift to the right, and coil up sign of the nasogastric tube, without intracardiac anomaly. Immediately after the diagnosis of EA/TEF and unilateral PA on day 0, the patient was intubated in the operating room, and a gastrostomy tube was placed. After pulmonary status stabilized, at 4 days old, EA/TEF was repaired through a thoracotomy in the right 4 th intercostal space. The right main bronchus was noted to continue into the distal oesophagus; this fistula was ligated and divided, and a single-layer esophagoesophagostomy was performed under mild tension with one vertebral gap. The neonate was maintained on mechanical ventilation and gradually weaned to extubation at 7 days old. The postoperative course was uneventful, with the exception of prolonged jaundice that emerged at 3 months old. Laparoscopic cholangiography at that time excluded biliary atresia, and jaundice resolved spontaneously. The patient has not shown any respiratory symptoms or feeding difficulties as of the 12-month follow-up.

  18. A comparison of skeletal maturation in patients with tooth agenesis and unaffected controls assessed by the cervical vertebral maturation (CVM) index.

    Science.gov (United States)

    Casey, Christine; Gill, Daljit S; Jones, Steven P

    2013-12-01

    The aims of this study were to (1) investigate if there is a difference in skeletal maturation between tooth agenesis and control patients and (2) whether skeletal maturation is affected by the severity of tooth agenesis. The cervical vertebral maturation (CVM) index can be used to assess skeletal maturation. A retrospective cross-sectional study. Eastman Dental Hospital, London, UK. A total of 360 cephalograms of patients aged 9-17 years (164 males and 196 females) allocated to four subgroups (mild, moderate and severe tooth agenesis patients, and controls) were assessed retrospectively. There were 90 patients in each of the four subgroups. The skeletal maturation of each subject was assessed both quantitatively and qualitatively using the CVM index. All patients in the study were either currently receiving treatment or had been discharged from the hospital. There was no statistically significant relationship between skeletal maturation and the presence of tooth agenesis. Furthermore, there was no statistically significant relationship between the skeletal maturity of patients and different severities of tooth agenesis. The data obtained from this group of patients and using this measurement tool alone does not supply sufficient reason to reject the null hypothesis. However, it suggests that it is possible that no difference exists between the groups.

  19. Providers' Experiences with Vaginal Dilator Training for Patients with Vaginal Agenesis.

    Science.gov (United States)

    Patel, Vrunda; Hakim, Julie; Gomez-Lobo, Veronica; Amies Oelschlager, Anne-Marie

    2018-02-01

    To examine providers' experiences with vaginal dilator training for patients with vaginal agenesis. Anonymous electronic survey. Members of the North American Society for Pediatric and Adolescent Gynecology. How providers learn about vaginal dilator training, common techniques, and methods used for patient training, assessment of patient readiness, common patient complaints, issues leading to early discontinuation. There were a total of 55 completed survey responses of which 31 respondents (56%) had been in practice for more than 10 years. Forty-nine were gynecologists (89%), 20 had completed a fellowship in pediatric and adolescent gynecology (36%), and 6 were reproductive endocrinologists (11%). Thirty-one respondents had first learned about vaginal dilator training through lectures (56%) whereas only 9 through mentorship and fellowship (16%). According to respondents, the most common issue leading to early discontinuation was lack of patient motivation and readiness (n = 42; 76%). The most common complication was pain or discomfort (n = 45; 82%). More than half of respondents determined dilator therapy was successful when patients reported comfortable sexual intercourse (n = 30; 55%) and 65% (n = 35) did not delineate any restrictions to initiation of sexual intercourse. Most respondents (87%) requested further vaginal dilator training at either a clinical meeting (n = 26; 47%) or with a training video (n = 22; 40%). Our study in an experienced cohort of pediatric gynecology providers highlights the need for further research and training on vaginal dilation education. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  20. Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum.

    Science.gov (United States)

    Folliot-Le Doussal, Lise; Chadie, Alexandra; Brasseur-Daudruy, Marie; Verspyck, Eric; Saugier-Veber, Pascale; Marret, Stéphane

    2018-01-01

    Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy. To evaluate long-term neurodevelopmental outcome in children with prenatally diagnosed isolated ACC. This is a follow-up study conducted in Normandy (France). It included a cohort of 25 children born between January 1991 and June 2016, with a prenatal diagnosis of isolated ACC and who were followed for at least two years. The average follow-up was 8±5years. ACC was complete in 17 patients (68%), partial in 5 (20%) and hypoplastic in 3 (12%). Whereas global motor development was normal in each case, normal neurodevelopmental outcome or mild disabilities occurred in 88% children and moderate/severe neuro-disabilities were present in 12% of children. Wechsler Intelligence Scale for Children-IV evaluations and Intellectual Total Quotients were within normal range, but we observed lower scores in verbal comprehension, social judgment, executive functions. A lower score in morphosyntax was observed among 52% of children with oral language disorders. Neurodevelopmental outcome was favorable in most of our patients with isolated ACC, but mild learning disabilities emerged in older children. Long-term follow-up until school age is essential to provide early diagnosis and appropriate care support. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Selecting Infants With Cryptorchidism and High Risk of Infertility for Optional Adjuvant Hormonal Therapy and Cryopreservation of Germ Cells: Experience From a Pilot Study

    Directory of Open Access Journals (Sweden)

    Jorgen Thorup

    2018-06-01

    Full Text Available IntroductionOrchiopexy for congenital cryptorchid testes is recommended between ½ and 1 year of age to preserve testicular germ cell maturation. Early operation is not enough to preserve fertility in 22 and 36% of cases. Aim of this study was to set up a protocol for optional adjuvant hormonal therapy after orchiopexy and thereafter cryopreservation of testicular biopsies from infants with bilateral cryptorchidism and high infertility risk.Materials and methodsWe included 17 boys with bilateral cryptorchidism, normal FSH, and impaired germ cell number per tubular transverse section (G/T in testicular biopsies at orchiopexy, 7 months to 3½ years old. Postoperatively, optional adjuvant LHRH (kryptocur® 0.2 mg/0.1 mL 2× every second day in 16 weeks were offered. Ten boys were applicable for age matching according to parent’s choice of treatment regime and G/T. Five of them had kryptocur®, and five were controls. Repeat bilateral testicular biopsy evaluation and cryopreservation were offered to all boys 12 months after primary orchiopexy. For cryopreservation, tissue pieces were incubated with a cryoprotectant with a slow program freezing.ResultsTwo out of five kryptorcur®-treated boys normalized both the average G/T and the number of adult dark spermatogonia (Ad-S. Another kryptocur®-treated boy with initial low G/T and no Ad-S increased the G/T and achieved normal number of Ad-S at time of cryopreservation. In the control group, two patients reached only normal lower range regarding the G/T and the number of Ad-S. None of boys with less than average 0.2 G/T improved significantly, whether they were kryptocur®-treated or not.ConclusionBased on literature and the present results, we recommend adjuvant LHRH treatment to boys with cryptorchidism and insufficient genuine gonadotropin stimulation at time of surgery, as these patients have high infertility risk. Cryopreservation should be an option in case of treatment failure

  2. Klippel-Feil syndrome with associated agenesis of lung and gall bladder presenting with asthma and allergic rhinitis

    International Nuclear Information System (INIS)

    Khanna, Puneet; Panjabi, Chandramani; Shah, Ashok

    2005-01-01

    Klippel-Feil syndrome (KFS), a triad of short neck, limitation of neck movement and low posterior hairline, is characterized by the presence of congenitally fused cervical vertebrae and is often associated with multiple congenital anomalies. A 35-year-old male was referred for evaluation of an 'opaque hemithorax'. This led to a diagnosis of KFS, agenesis of left lung and gall bladder. The patient had history of wheezing dyspnea with nasal symptoms, which were diagnosed as asthma and allergic rhinitis. A high index of suspicion is required to recognize such a patient, and efforts should be made to seek other congenital anomalies. (author)

  3. Successful radiofrequency catheter ablation of atrioventricular nodal reentrant tachycardia in a patient with dextrocardia due to unilateral pulmonary agenesis: a case report

    Directory of Open Access Journals (Sweden)

    Aksu T

    2015-02-01

    Full Text Available Tolga Aksu, Tumer Erdem Guler, Ebru Golcuk, Ismail Erden, Kazim Serhan Ozcan Department of Cardiology, Kocaeli Derince Education and Research Hospital, Derince, Kocaeli, Turkey Abstract: Radiofrequency catheter ablation of the slow pathway is considered to be the treatment of choice for patients with atrioventricular nodal reentrant tachycardia. We report a 34-year-old female with mirror image dextrocardia due to unilateral pulmonary agenesis who underwent successful slow pathway ablation for typical atrioventricular nodal reentrant tachycardia. Using contrast injection, cardiac anatomy was identified in a short time and successfully ablated. Keywords: dextrocardia, AVNRT, ablation, pulmonary agenesis

  4. Renal candidiasis

    International Nuclear Information System (INIS)

    Khanna, S.; Malik, N.; Khandelwal, N.

    1990-01-01

    Most fungal infections of the urinary tract are caused by Candida albicans, a yeast-like saprophytic fungus which may become apathogen under various conditions which lower the host resistance. The use of computed tomography in the diagnosis of renal fungus balls is the subject of this communication with emphasis on the radiologists role in the recognition of this entity. (H.W.). 6 refs.; 2 figs

  5. Renal hemangioma

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    Theodorico F. da Costa Neto

    2004-06-01

    Full Text Available INTRODUCTION: Renal hemangioma is a relatively rare benign tumor, seldom diagnosed as a cause of hematuria. CASE REPORT: A female 40-year old patient presented with continuous gross hematuria, anemia and episodic right lumbar pain, with onset about 3 months previously. The patient underwent multiple blood transfusions during her hospital stay and extensive imaging propedeutics was performed. Semi-rigid ureterorenoscopy evidenced a bleeding focus in the upper calix of the right kidney, with endoscopic treatment being unfeasible. The patient underwent right upper pole nephrectomy and presented a favorable outcome. Histopathological analysis of the surgical specimen showed that it was a renal hemangioma. COMMENTS: Imaging methods usually employed for diagnostic investigation of hematuria do not have good sensitivity for renal hemangioma. However, they are important to exclude the most frequent differential diagnoses. The ureterorenoscopy is the diagnostic method of choice and endoscopic treatment can be feasible when the lesion is accessible and electrocautery or laser are available. We emphasize the open surgical treatment as a therapeutic option upon failure of less invasive methods.

  6. Obesity and renal hemodynamics

    NARCIS (Netherlands)

    Bosma, R. J.; Krikken, J. A.; van der Heide, J. J. Homan; de Jong, P. E.; Navis, G. J.

    2006-01-01

    Obesity is a risk factor for renal damage in native kidney disease and in renal transplant recipients. Obesity is associated with several renal risk factors such as hypertension and diabetes that may convey renal risk, but obesity is also associated with an unfavorable renal hemodynamic profile

  7. Radiopharmaceuticals for renal studies

    International Nuclear Information System (INIS)

    Verdera, Silvia

    1994-01-01

    Between the diagnostic techniques using radiopharmaceuticals in nuclear medicine it find renal studies.A brief description about renal glomerular filtration(GFR) and reliability renal plasma flux (ERPF),renal blood flux measurement agents (RBF),renal scintillation agents and radiation dose estimates by organ physiology was given in this study.tabs

  8. The value of positive Oct3/4 and D2-40 immunohistochemical expression in prediction of germ cell neoplasia in prepubertal boys with cryptorchidism

    DEFF Research Database (Denmark)

    Clasen-Linde, Erik; Kvist, Kolja; Cortes, Dina

    2016-01-01

    , where most orchiopexies are performed. The aim of the study was to evaluate the ability of Oct3/4 and D2-40 immunohistochemical markers to detect ITGCN in boys older than 2 years with cryptorchidism. MATERIALS AND METHODS: Histological sections from 309 testicular biopsies from 234 boys aged 1 month...... to 14 years, 6 months operated on for cryptorchidism were incubated with primary antibodies including anti-placental-like alkaline phosphatase, anti-Oct3/4, anti-C-kit and anti-D2-40 receptor. RESULTS: One 3-year, 8-month-old boy with 45X/46XY disorder of sexual development had ITGCN and all positive...... markers. Besides this case, none of the 192 testes except one from boys older than 2 years had any Oct3/4- or D2-40-positive germ cells identified. The germ cells of the right testis from a 3-year, 7-month-old boy had weak Oct3/4 expression but were D2-40 negative. The prevalences of Oct3/4- and D2...

  9. The relationship between smile attractiveness and esthetic parameters of patients with lateral agenesis treated with tooth recontouring or implants

    Science.gov (United States)

    De-Marchi, Luciana Manzotti; Pini, Núbia Inocencya Pavesi; Pascotto, Renata Corrêa

    2012-01-01

    Background The purpose of this study was to associate smile esthetic judgment with dentofacial attributes of patients with unilateral and bilateral agenesis of maxillary lateral incisors treated with recontouring of canines or implants and patients with no agenesis (control). Material and methods Forty-six participants were divided into two groups: those treated with recontouring (N = 26) and those treated with implants (N = 20). The participants in the control group (N = 22) were selected among dentistry students at the State University of Maringá, Brazil. Photographs of posed smiles (17 cm × 10 cm) were evaluated with a 100-mm Visual Analog Scale. Smile attractiveness was judged by two groups: laypersons and dentists (N = 20 in each group). Judgment was classified into Unpleasant and Pleasant. Measurements of 11 smile attributes were done with ImageTool Version 3.0. These measurements were correlated with the type of judgment using the Pearson correlation coefficient. Results The two groups of evaluators showed no rating difference (analysis of variance, P = 0.64), thus they were placed into a single group. No significant correlation was found between esthetic judgment and six smile attributes (incisor exposure, interlabial gap, width 3 to 3, smile index, right buccal corridor, and buccal corridor ratio). The control group showed more correlations with the unpleasant judgment type than the other groups. Conclusion Some correlations between smile attributes and esthetic judgment were found, but other features of smiles not evaluated in this study may interfere in smile attractiveness. PMID:23674925

  10. Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review.

    Science.gov (United States)

    Stagi, Stefano; Traficante, Giovanna; Lapi, Elisabetta; Pantaleo, Marilena; Becciani, Sabrina; Mortilla, Marzia; Seminara, Salvatore; de Martino, Maurizio

    2015-10-19

    Agenesis of the internal carotid artery (ICA) is a rare congenital abnormality, sporadically reported to be associated with a combined congenital hypopituitarism. Nevertheless, only a few cases have been extensively described, and none of these have been characterized by an isolated growth hormone (GH) deficiency. Here, we describe a 17-year old boy referred to our hospital for fatigue, decreased muscle strength and severe headache reported after the cessation of rhGH treatment for a GH deficiency diagnosed at the age of 2 years and 3 months. Magnetic resonance imaging (MRI) showed an adenohypophyseal hypoplasia with a lack of posterior pituitary hyperintensity, whereas MRI angiography indicated the absence of a normal flow void in the left ICA. Endocrinological tests confirmed the GH deficiency (GH peak after growth-hormone-releasing hormone (GHRH) + arginine: 2.42 ng/mL) with a very low IGF-I value (31 ng/mL) and normal function of other pituitary axes. To the best of our knowledge this is the first confirmed case of an isolated GH deficiency in a patient with ICA agenesis. The presence of an isolated pituitary deficit is unlike to be considered only as an effect of hemodynamic mechanism, suggesting a role for genetic factor(s) as a common cause of these two rare birth defects. Further studies could clarify this issue and the underlying mechanisms to better understand the etiopathogenetic characteristics of this disorder.

  11. Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

    Directory of Open Access Journals (Sweden)

    Sushma Yalavarthi

    2017-01-01

    Full Text Available The Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH syndrome, simply called Rokitansky syndrome or vaginal aplasia of the uterus, is a congenital condition that is characterized by the absence of the uterus and vagina, but ovaries are present and the external genitalia are normal. It affects at least 1 out of 4500 women. MRKH may be isolated (Type I, but it is more frequently associated with renal, vertebral, and to a lesser extent, auditory and cardiac defects (MRKH Type II or Mullerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies association - mullerian duct aplasia, renal dysplasia, and cervical somite anomalies. There were very few cases of MRKH syndrome reported in the literature. Here, we report two cases of MRKH syndrome, one in a 20-year-old woman who presented with primary amenorrhea (MRKH Type I and the other in a 65-year-old woman with primary amenorrhea and associated renal malformations and a rare ovarian sertoliform variant of endometrioid tumor (MRKH Type II.

  12. Relation between agenesis and shape anomaly of maxillary lateral incisors and canine impaction

    Directory of Open Access Journals (Sweden)

    Anísio Bueno de Carvalho

    2012-12-01

    Full Text Available OBJECTIVE: The purpose was to obtain information about the relation between agenesis and shape anomaly of maxillary lateral incisors and canine impaction. METHODS: Seventy-three patients with canine impaction and 73 control patients, without canine impaction, were evaluated. The mesiodistal distances of the maxillary lateral incisors adjacent to the impacted canines and the correspondent mandibular lateral incisors were measured. The adjacent lateral incisors were classified in: 1 - absent, 2 - small, 3 - peg-shaped, 4 - standard. RESULTS: The results showed that among the patients with impacted canines, there were 21 anomalous teeth (small and peg-shaped and among the control patients there were only three small and peg-shaped teeth, with a statistically significant difference (p = 0.001. No patients were found with impacted canines and absent lateral incisors. CONCLUSION: It was concluded that in patients with anomalous lateral incisors (small and peg-shaped there is a probability to present impacted canines and this must be considered.OBJETIVO: o objetivo foi obter informação sobre a relação existente entre a agenesia e/ou anomalia de forma de incisivos laterais superiores e impacção de caninos. MÉTODOS: foram avaliados 73 pacientes com impacção de caninos e 73 pacientes controle, sem impacção de caninos. Foram medidas as distâncias mesiodistais dos incisivos laterais superiores adjacentes aos caninos impactados e os incisivos laterais correspondentes inferiores. Os incisivos laterais adjacentes foram classificados em: 1 - ausentes; 2 - pequenos; 3 - conoides; 4 - normais. RESULTADOS: os resultados mostraram que no grupo de pacientes com caninos impactados foram encontrados 22 dentes anômalos (pequenos e conoides, e no grupo controle apenas três dentes pequenos e conoides, sendo uma diferença estatisticamente significativa (p=0,001. Não foram encontrados pacientes com canino impactado e incisivo lateral ausente. CONCLUS

  13. Bilateral renal artery variation

    OpenAIRE

    Üçerler, Hülya; Üzüm, Yusuf; İkiz, Z. Aslı Aktan

    2014-01-01

    Each kidney is supplied by a single renal artery, although renal artery variations are common. Variations of the renal arteryhave become important with the increasing number of renal transplantations. Numerous studies describe variations in renalartery anatomy. Especially the left renal artery is among the most critical arterial variations, because it is the referred side forresecting the donor kidney. During routine dissection in a formalin fixed male cadaver, we have found a bilateral renal...

  14. Renal tuberculosis

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    Džamić Zoran

    2016-01-01

    Full Text Available Tuberculosis is still a significant health problem in the world, mostly in developing countries. The special significance lies in immunocompromised patients, particularly those suffering from the HIV. Urogenital tuberculosis is one of the most common forms of extrapulmonary tuberculosis, while the most commonly involved organ is the kidney. Renal tuberculosis occurs by hematogenous dissemination of mycobacterium tuberculosis from a primary tuberculosis foci in the body. Tuberculosis is characterized by the formation of pathognomonic lesions in the tissues - granulomata. These granulomata may heal spontaneously or remain stable for years. In certain circumstances in the body associated with immunosuppression, the disease may be activated. Central caseous necrosis occurs within tuberculoma, leading to formation of cavities that destroy renal parenchyma. The process may gain access to the collecting system, forming the caverns. In this way, infection can be spread distally to renal pelvis, ureter and bladder. Scaring of tissue by tuberculosis process may lead to development of strictures of the urinary tract. The clinical manifestations are presented by nonspecific symptoms and signs, so tuberculosis can often be overlooked. Sterile pyuria is characteristic for urinary tuberculosis. Dysuric complaints, flank pain or hematuria may be presented in patients. Constitutional symptoms of fever, weight loss and night sweats are presented in some severe cases. Diagnosis is made by isolation of mycobacterium tuberculosis in urine samples, by cultures carried out on standard solid media optimized for mycobacterial growth. Different imaging studies are used in diagnostics - IVU, CT and NMR are the most important. Medical therapy is the main modality of tuberculosis treatment. The first line anti-tuberculosis drugs include isoniazid, rifampicin, pyrazinamide and ethambutol. Surgical treatment is required in some cases, to remove severely damaged kidney, if

  15. Renal denervation

    DEFF Research Database (Denmark)

    Olsen, Lene Kjær; Kamper, Anne-Lise; Svendsen, Jesper Hastrup

    2015-01-01

    PURPOSE OF REVIEW: Renal denervation (RDN) has, within recent years, been suggested as a novel treatment option for patients with resistant hypertension. This review summarizes the current knowledge on this procedure as well as limitations and questions that remain to be answered. RECENT FINDINGS...... selection, anatomical and physiological effects of RDN as well as possible beneficial effects on other diseases with increased sympathetic activity. The long awaited Symplicity HTN-3 (2014) results illustrated that the RDN group and the sham-group had similar reductions in BP. SUMMARY: Initial studies...

  16. Renal papillary necrosis

    Science.gov (United States)

    ... asking your provider. Alternative Names Necrosis - renal papillae; Renal medullary necrosis Images Kidney anatomy Kidney - blood and urine flow References Bushinsky DA, Monk RD. Nephrolithiasis and nephrocalcinosis. ...

  17. Renal calculus

    CERN Document Server

    Pyrah, Leslie N

    1979-01-01

    Stone in the urinary tract has fascinated the medical profession from the earliest times and has played an important part in the development of surgery. The earliest major planned operations were for the removal of vesical calculus; renal and ureteric calculi provided the first stimulus for the radiological investigation of the viscera, and the biochemical investigation of the causes of calculus formation has been the training ground for surgeons interested in metabolic disorders. It is therefore no surprise that stone has been the subject of a number of monographs by eminent urologists, but the rapid development of knowledge has made it possible for each one of these authors to produce something new. There is still a technical challenge to the surgeon in the removal of renal calculi, and on this topic we are always glad to have the advice of a master craftsman; but inevitably much of the interest centres on the elucidation of the causes of stone formation and its prevention. Professor Pyrah has had a long an...

  18. Hippocampal agenesis in an individual who engaged in violent criminal behaviors after discontinuing carbamazepine and paroxetine treatment.

    Science.gov (United States)

    Hanada, Hiroaki; Akiyoshi, Jotaro; Kanehisa, Masayuki; Ishitobi, Yoshinobu; Tsuru, Jusen; Tanaka, Yoshihiro; Shimomura, Tsuyoshi; Kawano, Yoshihisa

    2013-01-01

    Antidepressant discontinuation syndrome (ADS) occurs after abrupt discontinuation of an antidepressant medication. A 23-year-old man with right hippocampal agenesis demonstrated sexual crime (hypersexuality) since the age of eight and had been successfully treated with carbamazepine since the age of 13. He had required increased doses of paroxetine and carbamazepine owing to the development of an unstable affect after quitting his job. He abruptly stopped taking his medication for 3 days and his criminal behaviors re-emerged. We examined changes in brain structure and activity before and after medication cessation, using MRI and functional MRI (fMRI). The image of a girl in a swimsuit increased activity in the thalamus only after medication discontinuation. The alteration in thalamic activity might induce hypersexuality. We conclude that a primary hypersexuality had been suppressed with carbamazepine and paroxetine treatment, and the discontinuation of the medication caused the hypersexuality. © 2012 American Academy of Forensic Sciences.

  19. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study

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    Lívia Azeredo Alves Antunes

    2013-01-01

    Full Text Available The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employed digital caliper to compare morphological dimensions and showed alteration only in peg-shaped tooth. In conclusion, this study provide support that one or more mutated gene could cause discordances in dental phenotype in these monozygotic twins.

  20. Bilateral Deep Vein Thrombosis Associated with Inferior Vena Cava Agenesis in a Young Patient Manifesting as Low Back Pain

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    Felipe Langer

    2017-04-01

    Full Text Available Congenital absence of the inferior vena cava is a rare vascular anomaly, and most cases are asymptomatic. Nevertheless, patients with inferior vena cava malformations may have increased risk of deep venous thrombosis. Particularly, cases of bilateral deep venous thrombosis may arise owing to an insufficient collateral venous drainage from the lower limbs. We hereby describe a case of a previously healthy young male patient presenting with bilateral lower limb deep venous thrombosis as the initial clinical manifestation of congenital inferior vena cava agenesis. We conclude that in young patients presenting with deep venous thrombosis, especially when thrombosis occurs spontaneously, bilaterally, or recurrently, inferior vena cava anomalies should be thoroughly investigated and ruled out as appropriate.

  1. TRANSPLANTE RENAL

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    Soraia Geraldo Rozza Lopes

    2014-01-01

    Full Text Available El objetivo del estudio fue comprender el significado de espera del trasplante renal para las mujeres en hemodiálisis. Se trata de un estudio cualitativo-interpretativo, realizado con 12 mujeres en hemodiálisis en Florianópolis. Los datos fueron recolectados a través de entrevistas en profundidad en el domicilio. Fue utilizado el software Etnografh 6.0 para la pre-codificación y posterior al análisis interpretativo emergieron dos categorías: “las sombras del momento actual”, que mostró que las dificultades iniciales de la enfermedad están presentes, pero las mujeres pueden hacer frente mejor a la enfermedad y el tratamiento. La segunda categoría, “la luz del trasplante renal”, muestra la esperanza impulsada por la entrada en la lista de espera para un trasplante.

  2. Cryptorchidism and testicular germ cell tumors: comprehensive meta-analysis reveals that association between these conditions diminished over time and is modified by clinical characteristics

    Directory of Open Access Journals (Sweden)

    Kimberly eBanks

    2013-02-01

    Full Text Available Introduction: Risk of testicular germ cell tumors (TGCT is consistently associated with a history of cryptorchidism (CO in epidemiologic studies. Factors modifying the association may provide insights regarding etiology of TGCT and suggest a basis for individualized care of CO. To identify modifiers of the CO-TGCT association, we conducted a comprehensive, quantitative evaluation of epidemiologic data.Materials and Methods: Human studies cited in PubMed or ISI Web of Science indices through December 2011 and selected unpublished epidemiologic data were reviewed to identify 35 articles and one unpublished dataset with high-quality data on the CO-TGCT association. Association data were extracted as point and 95% confidence interval estimates of odds ratio (OR or standardized incidence ratio (SIR, or as tabulated data. Values were recorded for each study population, and for subgroups defined by features of study design, CO and TGCT. Extracted data were used to estimate summary risk ratios (sRR and evaluate heterogeneity of the CO-TGCT association between subgroups.Results: The overall meta-analysis showed that history of CO is associated with four-fold increased TGCT risk (RR=4.1(95%CI=3.6-4.7. Subgroup analyses identified five determinants of stronger association: bilateral CO, unilateral CO ipsilateral to TGCT, delayed CO treatment, TGCT diagnosed before 1970, and seminoma histology. Conclusions: Modifying factors may provide insight into TGCT etiology and suggest improved approaches to managing CO. Based on available data, cryptorchidism patients and their parents or caregivers should be made aware of elevated TGCT risk following orchidopexy, regardless of age at repair, unilateral versus bilateral nondescent, or position of undescended testes.

  3. BILATERAL DUPLICATION OF RENAL ARTERIES

    OpenAIRE

    Prajkta A Thete; Mehera Bhoir; M.V.Ambiye

    2014-01-01

    Routine dissection of a male cadaver revealed the presence of bilateral double renal arteries. On the right side the accessory renal artery originated from the abdominal aorta just above the main renal artery. On the left side the accessory renal artery originated from the abdominal aorta about 1 cm above the main renal artery. Knowledge of the variations of renal vascular anatomy has importance in exploration and treatment of renal trauma, renal transplantation, renal artery embolization, su...

  4. Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature.

    Science.gov (United States)

    Cheyuo, Cletus; Radwan, Walid; Ahn, Janice; Gyure, Kymberly; Qaiser, Rabia; Tomboc, Patrick

    2017-10-01

    Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The clinical spectrum includes neoplastic and non-neoplastic manifestations. We present the case of a 7-year-old boy who presented with T-lymphoblastic lymphoma and glioblastoma, together with non-neoplastic manifestations including corpus callosum agenesis, arachnoid cyst, developmental venous anomaly, and hydrocephalus. Gene mutation analysis revealed pathogenic biallelic mutations of PMS2 and heterozygous DICER1 variant predicted to be pathogenic. This report is the first to allude to a possible interaction of the mismatch repair system with DICER1 to cause corpus callosum agenesis.

  5. A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

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    Lall Meena

    2011-09-01

    Full Text Available Abstract Background Partial Trisomy 11q syndrome (or Duplication 11q has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD. Deletion 1q44 (or Monosomy 1q44 is a well-defined syndrome, but there is controversy about the genes lying in 1q44 region, responsible for agenesis of the corpus callosum. We report a female child with the rare Partial Trisomy 11q syndrome and Deletion 1q44 syndrome. The genomic imbalance in the proband was used for molecular characterization of the critical genes in 1q44 region for agenesis of corpus callosum. Some genes in 11q14q25 may be responsible for laryngomalacia. Results We report a female child with dysmorphic features, microcephaly, growth retardation, seizures, acyanotic heart disease, and hand and foot deformities. She had agenesis of corpus callosum, laryngomalacia, anterior ectopic anus, esophageal reflux and respiratory distress. Chromosome analysis revealed a derivative chromosome 1. Her karyotype was 46,XX,der(1t(1;11(q44;q14pat. The mother had a normal karyotype and the karyotype of the father was 46,XY,t(1;11(q44;q14. SNP array analysis showed that the proband had a 54 Mb duplication of 11q14q25 and a 0.9 Mb deletion of the submicroscopic subtelomeric 1q44 region. Fluorescence Insitu Hybridisation confirmed the duplication of 11qter and deletion of 1qter. Conclusion Laryngomalacia or obstruction of the upper airway is the outcome of increased dosage of some genes due to Partial Trisomy 11q Syndrome. In association with other phenotypic features, agenesis of corpus callosum appears to be a landmark phenotype for Deletion 1q44 syndrome, the critical genes lying proximal to SMYD3 in 1q44 region.

  6. Agenesis of the internal carotid artery with a trans-sellar anastomosis: CT and MRI findings in late-onset congenital hypopituitarism

    International Nuclear Information System (INIS)

    Mellado, J.M.; Merino, X.; Ramos, A.; Salvado, E.; Sauri, A.

    2001-01-01

    A 29-year-old woman with a history of hypothyroidism since early childhood developed hypopituitarism. CT and MRI revealed anterior pituitary hypoplasia, an ectopic posterior lobe, a Chiari I malformation and agenesis of the right internal carotid artery with a trans-sellar anastomosis. This constellation of findings constitutes a previously unreported association in congenital hypopituitarism of late onset. The usefulness of imaging modalities and the pathogenic implications are also discussed. (orig.)

  7. Radionuclide evaluation of renal transplants

    International Nuclear Information System (INIS)

    Yang Hong; Zhao Deshan

    2000-01-01

    Radionuclide renal imaging and plasma clearance methods can quickly quantitate renal blood flow and function in renal transplants. They can diagnose acute tubular necrosis and rejection, renal scar, surgical complications such as urine leaks, obstruction and renal artery stenosis after renal transplants. At the same time they can assess the therapy effect of renal transplant complications and can also predict renal transplant survival from early post-operative function studies

  8. Distal renal tubular acidosis

    Science.gov (United States)

    ... this disorder. Alternative Names Renal tubular acidosis - distal; Renal tubular acidosis type I; Type I RTA; RTA - distal; Classical RTA Images Kidney anatomy Kidney - blood and urine flow References Bose A, Monk RD, Bushinsky DA. Kidney ...

  9. Analysis of width/height ratio and gingival zenith in patients with bilateral agenesis of maxillary lateral incisor

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    Núbia Inocencya Pavesi Pini

    2012-10-01

    Full Text Available OBJECTIVE: The purpose of this study was to evaluate the width/length ratio and the gingival zenith (GZ, by means of dental casts and digital caliper, in patients with missing maxillary lateral incisors after treatment. METHODS: The sample was composed of 52 subjects divided into 3 groups: BRG (n = 18, patients with bilateral agenesis treated with tooth re-contouring; BIG (n = 10 patients with agenesis treated with implants and CG (n = 24, control group. The data were analyzed using Shapiro-Wilk, Spearman correlation, Wilcoxon, Kruskal-Wallis, t test and ANOVA tests (p 0.05. GZ data for the right and left sides of the smile were not considered statistically different. CONCLUSION: Although no statistical difference was found in the comparison between the groups, analysis of the descriptive values showed that group BIG showed the greatest difference in values with regard to width/length ratio. Regarding gingival zenith, BRG showed the greatest difference.OBJETIVO: o propósito desse estudo foi analisar, por meio de modelos de estudo e paquímetro digital, a proporção largura/altura e o zênite gengival (ZG em pacientes com agenesia bilateral do incisivo lateral superior após o tratamento. MÉTODOS: a amostra consistiu de 52 voluntários divididos em 3 grupos: GBR (n=18, pacientes com agenesia bilateral tratados com reanatomizações dentárias; GBI (n=10, pacientes com agenesia bilateral tratados com implantes; e GC (n=24, grupo controle. Os dados foram avaliados por meio dos testes de Shapiro-Wilk, Wilcoxon, Kruskal-Wallis, teste t, ANOVA (p0,05. Os valores obtidos para os lados direito e esquerdo foram considerados iguais dentro de cada grupo. CONCLUSÃO: embora não tenham sido encontradas diferenças estatísticas na comparação entre os grupos, pela análise descritiva dos dados, o GBI foi o grupo que apresentou as medidas mais destoantes dos demais em relação à proporção largura/altura, sendo que, para o zênite gengival, a maior

  10. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  11. Renal inflammatory myofibroblastic tumor

    DEFF Research Database (Denmark)

    Heerwagen, S T; Jensen, C; Bagi, P

    2007-01-01

    Renal inflammatory myofibroblastic tumor (IMT) is a rare soft-tissue tumor of controversial etiology with a potential for local recurrence after incomplete surgical resection. The radiological findings in renal IMT are not well described. We report two cases in adults with a renal mass treated...

  12. Esthetic Assessment of the Effect of Gingival Exposure in the Smile of Patients with Unilateral and Bilateral Maxillary Incisor Agenesis.

    Science.gov (United States)

    Pinho, Teresa; Bellot-Arcís, Carlos; Montiel-Company, José María; Neves, Manuel

    2015-07-01

    The aim of this study was to determine the dental esthetic perception of the smile of patients with maxillary lateral incisor agenesis (MLIA); the perceptions were examined pre- and post-treatment. Esthetic determinations were made with regard to the gingival exposure in the patients' smile by orthodontists, general dentists, and laypersons. Three hundred eighty one people (80 orthodontists, 181 general dentists, 120 laypersons) rated the attractiveness of the smile in four cases before and after treatment, comprising two cases with unilateral MLIA and contralateral microdontia and two with bilateral MLIA. For each case, the buccal photograph was adjusted using a computer to apply standard lips to create high, medium, and low smiles. A numeric scale was used to measure the esthetic rating perceived by the judges. The resulting arithmetic means were compared using an ANOVA test, a linear trend, and a Student's t-test, applying a significance level of p esthetic perception of smiles in post-treatment cases. © 2014 by the American College of Prosthodontists.

  13. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

    Science.gov (United States)

    Baas, Annette F; Gabbett, Michael; Rimac, Milan; Kansikas, Minttu; Raphael, Martine; Nievelstein, Rutger Aj; Nicholls, Wayne; Offerhaus, Johan; Bodmer, Danielle; Wernstedt, Annekatrin; Krabichler, Birgit; Strasser, Ulrich; Nyström, Minna; Zschocke, Johannes; Robertson, Stephen P; van Haelst, Mieke M; Wimmer, Katharina

    2013-01-01

    Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spectrum, the lack of specific clinical features and the overlap with other cancer predisposing syndromes, diagnosis of CMMR-D is often delayed in pediatric cancer patients. Here, we report of three new CMMR-D patients all of whom developed more than one malignancy. The common finding in these three patients is agenesis of the corpus callosum (ACC). Gray matter heterotopia is present in two patients. One of the 57 previously reported CMMR-D patients with brain tumors (therefore all likely had cerebral imaging) also had ACC. With the present report the prevalence of cerebral malformations is at least 4/60 (6.6%). This number is well above the population birth prevalence of 0.09-0.36 live births with these cerebral malformations, suggesting that ACC and heterotopia are features of CMMR-D. Therefore, the presence of cerebral malformations in pediatric cancer patients should alert to the possible diagnosis of CMMR-D. ACC and gray matter heterotopia are the first congenital malformations described to occur at higher frequency in CMMR-D patients than in the general population. Further systematic evaluations of CMMR-D patients are needed to identify possible other malformations associated with this syndrome.

  14. Agenesia de veia cava inferior associada à trombose venosa profunda Agenesis of inferior vena cava associated with deep venous thrombosis

    Directory of Open Access Journals (Sweden)

    Clovis Luis Konopka

    2010-09-01

    Full Text Available A agenesia da veia cava inferior é uma anomalia congênita rara, que foi recentemente identificada como um importante fator de risco para o desenvolvimento e a recorrência de trombose venosa profunda de membros inferiores em jovens. O objetivo deste trabalho foi relatar o caso de uma paciente que apresentou trombose venosa profunda dois meses após a realização de cirurgia de varizes. A angiotomografia computadorizada demonstrou a presença de anomalia venosa complexa com ausência da veia cava inferior.The agenesis of the inferior vena cava is a rare congenital anomaly, which was recently identified as an important risk factor for the development and recurrence of deep venous thrombosis especially in young people. The goal of this work was to report the case of a patient who presented deep venous thrombosis approximately two months after varicose vein surgery. The computerized angiotomography demonstrated the presence of a complex venous anomaly with absence of the inferior vena cava.

  15. Traumatic renal infarction

    International Nuclear Information System (INIS)

    Yashiro, Naobumi; Ohtomo, Kuni; Kokubo, Takashi; Itai, Yuji; Iio, Masahiro

    1986-01-01

    Four cases of traumatic renal artery occlusion were described and illustrated. In two cases, direct blows to the abdomen compressed the renal artery against the vertebral column. Clinically, they were severely injured with macroscopic hematuria. Aortograms showed abrupt truncation of renal arteries. In the other two, rapid deceleration caused sudden displacement of the kidney producing an intimal tear with resultant thrombosis. Although they showed little injury without macrohematuria, aortograms revealed tapered occlusion of renal arteries. One of them developed hypertension. ''Rim sign'' of post-contrast CT and hypertension resulted from traumatic renal artery occlusion were reviewed. (author)

  16. sup(99m)Tc-DMSA renal scintigraphy in renal failure due to various renal diseases

    Energy Technology Data Exchange (ETDEWEB)

    Hosokawa, S; Daijo, K; Okabe, T; Kawamura, J; Hara, A [Kyoto Univ. (Japan). Hospital

    1979-08-01

    Renal contours in renal failure were studied by means of sup(99m)Tc-dimercaptosuccinic acid (DMSA) renoscintigraphy. Renal cortical images were obtained even in renal failure cases. Causes of renal failure were chronic glomerulonephritis in 7, bilateral renal tuberculosis in 2, chronic pyelonephritis in 3, bilateral renal calculi in 3, diabetic nephropathy in 2, polycystic kidney disease in 2 and stomach cancer in 1.

  17. sup(99m)Tc-DMSA renal scintigraphy in renal failure due to various renal diseases

    International Nuclear Information System (INIS)

    Hosokawa, Shin-ichi; Daijo, Kazuyuki; Okabe, Tatsushiro; Kawamura, Juichi; Hara, Akira

    1979-01-01

    Renal contours in renal failure were studied by means of sup(99m)Tc-dimercaptosuccinic acid (DMSA) renoscintigraphy. Renal cortical images were obtained even in renal failure cases. Causes of renal failure were chronic glomerulonephritis in 7, bilateral renal tuberculosis in 2, chronic pyelonephritis in 3, bilateral renal calculi in 3, diabetic nephropathy in 2, polycystic kidney disease in 2 and stomach cancer in 1. (author)

  18. Imaging of renal osteodystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Jevtic, V. E-mail: vladimir.jevtic@mf.uni-lj.si

    2003-05-01

    Chronic renal insufficiency, hemodialysis, peritoneal dialysis, renal transplantation and administration of different medications provoke complex biochemical disturbances of the calcium-phosphate metabolism with wide spectrum of bone and soft tissue abnormalities termed renal osteodystrophy. Clinically most important manifestation of renal bone disease includes secondary hyperparathyroidism, osteomalacia/rickets, osteoporosis, adynamic bone disease and soft tissue calcification. As a complication of long-term hemodialysis and renal transplantation amyloid deposition, destructive spondyloarthropathy, osteonecrosis, and musculoskeletal infections may occur. Due to more sophisticated diagnostic methods and more efficient treatment classical radiographic features of secondary hyperparathyroidism and osteomalacia/rickets are now less frequently seen. Radiological investigations play an important role in early diagnosis and follow-up of the renal bone disease. Although numerous new imaging modalities have been introduced in clinical practice (scintigraphy, CT, MRI, quantitative imaging), plain film radiography, especially fine quality hand radiograph, still represents most widely used examination.

  19. Imaging of renal osteodystrophy

    International Nuclear Information System (INIS)

    Jevtic, V.

    2003-01-01

    Chronic renal insufficiency, hemodialysis, peritoneal dialysis, renal transplantation and administration of different medications provoke complex biochemical disturbances of the calcium-phosphate metabolism with wide spectrum of bone and soft tissue abnormalities termed renal osteodystrophy. Clinically most important manifestation of renal bone disease includes secondary hyperparathyroidism, osteomalacia/rickets, osteoporosis, adynamic bone disease and soft tissue calcification. As a complication of long-term hemodialysis and renal transplantation amyloid deposition, destructive spondyloarthropathy, osteonecrosis, and musculoskeletal infections may occur. Due to more sophisticated diagnostic methods and more efficient treatment classical radiographic features of secondary hyperparathyroidism and osteomalacia/rickets are now less frequently seen. Radiological investigations play an important role in early diagnosis and follow-up of the renal bone disease. Although numerous new imaging modalities have been introduced in clinical practice (scintigraphy, CT, MRI, quantitative imaging), plain film radiography, especially fine quality hand radiograph, still represents most widely used examination

  20. Renal artery stenosis

    International Nuclear Information System (INIS)

    Desberg, A.; Paushter, D.M.; Lammert, G.K.; Hale, J.; Troy, R.; Novic, A.; Nally, J. Jr.

    1989-01-01

    Renal artery disease is a potentially correctable cause of hypertension. Previous studies have suggested the utility of duplex sonography in accurately detecting and grading the severity of renal artery stenosis. The purpose of this paper is to evaluate color flow Doppler for this use. Forty-three kidneys were examined by color-flow Doppler and conventional duplex sampling in patients with suspected renovascular hypertension or those undergoing aortography for unrelated reasons. Doppler tracings were obtained from the renal arteries and aorta with calculation of the renal aortic ratio (RAR) and resistive index (RI). Results of Doppler sampling with color flow guidance were compared with aortograms in a blinded fashion

  1. Incidental renal neoplasms

    DEFF Research Database (Denmark)

    Rabjerg, Maj; Mikkelsen, Minne Nedergaard; Walter, Steen

    2014-01-01

    On the basis of associations between tumor size, pathological stage, histological subtype and tumor grade in incidentally detected renal cell carcinoma vs symptomatic renal cell carcinoma, we discussed the need for a screening program of renal cell carcinoma in Denmark. We analyzed a consecutive...... series of 204 patients with renal tumors in 2011 and 2012. The tumors were classified according to detection mode: symptomatic and incidental and compared to pathological parameters. Eighty-nine patients (44%) were symptomatic, 113 (55%) were incidental. Information was not available in two patients...

  2. Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?

    Science.gov (United States)

    Kirel, B; Kural, N; Yakut, A; Adapinar, B

    2000-01-01

    We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed.

  3. Renal cell carcinoma in patient with crossed fused renal ectopia

    Directory of Open Access Journals (Sweden)

    Ozgur Cakmak

    2016-01-01

    Full Text Available Primary renal cell carcinomas have rarely been reported in patients with crossed fused renal ectopia. We presented a patient with right to left crossed fused kidney harbouring renal tumor. The most frequent tumor encountered in crossed fused renal ectopia is renal cell carcinoma. In this case, partial nephrectomy was performed which pave way to preservation of the uninvolved both renal units. Due to unpredictable anatomy, careful preoperative planning and meticulous delineation of renal vasculature is essential for preservation of the uninvolved renal units.

  4. Stages of Renal Cell Cancer

    Science.gov (United States)

    ... Tumors Treatment Genetics of Kidney Cancer Research Renal Cell Cancer Treatment (PDQ®)–Patient Version General Information About Renal Cell Cancer Go to Health Professional Version Key Points Renal ...

  5. Bilateral papillary renal cell carcinoma

    International Nuclear Information System (INIS)

    Gossios, K.; Vazakas, P.; Argyropoulou, M.; Stefanaki, S.; Stavropoulos, N.E.

    2001-01-01

    Papillary renal cell carcinoma is a subgroup of malignant renal epithelial neoplasms. We report the clinical and imaging findings of a case with multifocal and bilateral renal cell carcinoma which are nonspecific. (orig.)

  6. Exposición a disruptores endocrinos y alteraciones del tracto urogenital masculino (criptorquidia e hipospadias Exposure to endocrine disruptors and male urogenital tract malformations [cryptorchidism and hypospadias

    Directory of Open Access Journals (Sweden)

    Mariana F. Fernández

    2007-12-01

    Full Text Available Antecedentes: Se ha sugerido que la exposición maternoinfantil a compuestos hormonalmente activos (disruptores endocrinos tiene en la etapa intrauterina una de sus fases más comprometidas. Objetivo: Revisar los estudios epidemiológicos, nacionales e internacionales, publicados entre 1990 y el primer trimestre de 2006, que tuvieran como hipótesis la asociación entre la exposición humana a disruptores endocrinos y el riesgo de criptorquidia e hipospadias. Métodos: Se han buscado artículos en MEDLINE/PubMed mediante las palabras clave: disruptores endocrinos, xenoestrógenos, pesticidas organoclorados y criptorquidia e hipospadias. La selección de los 16 trabajos incluidos se hizo atendiendo al diseño y la población de estudio, las medidas de exposición empleadas, los criterios de exclusión e inclusión establecidos y el análisis estadístico utilizado. Resultados y conclusiones: Aunque los estudios aquí revisados no son concluyentes para confirmar la asociación entre disruptores endocrinos y riesgo de malformación del tracto genitourinario, tampoco demuestran la falta de tal asociación. Por este motivo parece razonable sugerir que este aspecto de la patología hormonal debería investigarse más en profundidad, resolviendo, al menos, el diagnóstico adecuado de los individuos y la estimación de la exposición a múltiples compuestos químicos, contaminantes ambientales, que actúan conjuntamente a través de mecanismos similares a las hormonas endógenas.Background: It has been proposed that the intrauterine period of child-mother exposure to hormonally active compounds (endocrine disruptors is of critical importance. Objective: We reviewed all Spanish and English-language epidemiological studies published between 1990 and the first trimester of 2006 that studied the possible association between human exposure to chemical compounds and the risk of cryptorchidism and/or hypospadias. Methods: The MEDLINE (PubMed database was

  7. Analysis of single nucleotide polymorphisms in the 3' region of the estrogen receptor 1 gene in normal and cryptorchid Miniature Dachshunds and Chihuahuas.

    Science.gov (United States)

    Pathirana, Indunil Nishantha; Tanaka, Kakeru; Kawate, Noritoshi; Tsuji, Makoto; Kida, Kayoko; Hatoya, Shingo; Inaba, Toshio; Tamada, Hiromichi

    2010-08-01

    This study was performed to examine the distribution of single nucleotide polymorphisms (SNPs) and estimated haplotypes in the canine estrogen receptor (ER) alpha gene (ESR1) and the association of them with different phenotypes of cryptorchidism (CO) in Miniature Dachshunds and Chihuahuas. Forty CO and 68 normal dogs were used, and CO was classified into unilateral (UCO; n=33) and bilateral CO (BCO; n=5) or into abdominal (ACO; n=16) and inguinal CO (ICO; n=22). Thirteen DNA fragments located in the 70-kb region at the 3' end of ESR1 were amplified by PCR and sequenced to examine 13 SNPs (#1-#13) reported in a canine SNP database. Ten SNPs (#1-#4, #7, #8, #10-#13) were not polymorphic, and 5 new SNPs (#14-#18) were discovered. A common haplotype block in normal, CO and CO phenotypes was identified for an approximately 20-kb region encompassing 4 SNPs (#14-#17). Allele, genotype and haplotype frequencies in CO without classification by phenotype and also in UCO, ACO and ICO phenotypes were not statistically different from the normal group. Significant differences in genotype frequencies and homozygosity for the estimated GTTG haplotype within the block were observed in BCO compared with the normal group, although the number of BCO animals was small. Our results demonstrate that the examined SNPs and haplotypes in the 3' end of canine ESR1 are not associated with unilateral, abdominal and inguinal CO phenotypes and CO per se in Miniature Dachshunds and Chihuahuas. Further studies are necessary to suggest a clear association between the ESR1 SNPs and bilateral CO in dogs.

  8. Renal Function in Hypothyroidism

    International Nuclear Information System (INIS)

    Khalid, S.; Khalid, M; Elfaki, M.; Hassan, N.; Suliman, S.M.

    2007-01-01

    Background Hypothyroidism induces significant changes in the function of organ systems such as the heart, muscles and brain. Renal function is also influenced by thyroid status. Physiological effects include changes in water and electrolyte metabolism, notably hyponatremia, and reliable alterations of renal hemodynamics, including decrements in renal blood flow, renal plasma flow, glomerular filtration rate (GFR). Objective Renal function is profoundly influenced by thyroid status; the purpose of the present study was to determine the relationship between renal function and thyroid status of patients with hypothyroidism. Design and Patients In 5 patients with primary hypothyroidism and control group renal functions are measured by serum creatinine and glomerular filtration rate (GFR) using modified in diet renal disease (MDRD) formula. Result In hypothyroidism, mean serum creatinine increased and mean estimated GFR decreased, compared to the control group mean serum creatinine decreased and mean estimated GFR Increased. The hypothyroid patients showed elevated serum creatinine levels (> 1.1mg/dl) compared to control group (p value .000). In patients mean estimated GFR decreased, compared to mean estimated GFR increased in the control group (p value= .002).

  9. Renal Function in Hypothyroidism

    International Nuclear Information System (INIS)

    Khalid, A. S; Ahmed, M.I; Elfaki, H.M; Hassan, N.; Suliman, S. M.

    2006-12-01

    Background hypothyroidism induces significant changes in the function of organ systems such as the heart, muscles and brain. Renal function is also influenced by thyroid status. Physiological effects include changes in water and electrolyte metabolism, notably hyponatraemia, and reliable alterations of renal hemodynamics, including decrements in renal blood flow, renal plasma flow, glomerular filtration rate (GFR). Objective renal function is profoundly influenced by thyroid status, the purpose of the present study was to determine the relationship between renal function and thyroid status of patients with hypothyroidism. Design and patients in 5 patients with primary hypothyroidism and control group renal functions are measured by serum creatinine and glomerular filtration rate(GFR) using modified in diet renal disease (MDRD) formula. Result in hypothyroidism, mean serum creatinine increased and mean estimated GFR decreased, compared to the control group mean serum creatinine decreased and mean estimated GFR increased. The hypothyroid patients showed elevated serum creatinine levels(>1.1 mg/d1) compared to control group (p value= 000). In patients mean estimated GFR increased in the control group (p value=.002).Conclusion thus the kidney, in addition to the brain, heart and muscle, is an important target of the action of thyroid hormones.(Author)

  10. Disappearing renal calculus.

    Science.gov (United States)

    Cui, Helen; Thomas, Johanna; Kumar, Sunil

    2013-04-10

    We present a case of a renal calculus treated solely with antibiotics which has not been previously reported in the literature. A man with a 17 mm lower pole renal calculus and concurrent Escherichia coli urine infection was being worked up to undergo percutaneous nephrolithotomy. However, after a course of preoperative antibiotics the stone was no longer seen on retrograde pyelography or CT imaging.

  11. Bilateral triple renal arteries

    International Nuclear Information System (INIS)

    Pestemalci, Turan; Yildiz, Yusuf Zeki; Yildirim, Mehmet; Mavi, Ayfer; Gumusburun, Erdem

    2009-01-01

    Knowledge of the variations of the renal artery has grown in importance with increasing numbers of renal transplants, vascular reconstructions and various surgical and radio logic techniques being performed in recent years. We report the presence of bilateral triple renal arteries, discovered on routine dissection of a male cadaver. On the right side, one additional renal artery originated from the abdominal aorta (distributed to superior pole of the kidney) and one other originated from the right common iliac artery (distributed to lower pole of the kidney). On the left side, both additional renal arteries originated from the abdominal aorta. Our observation has been compared with variations described in the literature and their clinical importance has been emphasized. (author)

  12. Radiology of renal failure

    International Nuclear Information System (INIS)

    Griffiths, H.J.

    1990-01-01

    This book covers most aspects of imaging studies in patients with renal failure. The initial chapter provides basic information on contrast agents, intravenous urography, and imaging findings in the urinary tract disorders responsible for renal failure and in patients who have undergone transplantation. It illustrates common gastro-intestinal abnormalities seen on barium studies in patients with renal failure. It illustrates the cardiopulmonary complications of renal failure and offers advice for radiologic differentiation. It details different aspects of skeletal changes in renal failure, including a basic description of the pathophysiology of the changes; many excellent illustrations of classic bone changes, arthritis, avascular necrosis, and soft-tissue calcifications; and details of bone mineral analysis

  13. [Hypertension and renal disease

    DEFF Research Database (Denmark)

    Kamper, A.L.; Pedersen, E.B.; Strandgaard, S.

    2009-01-01

    Renal mechanisms, in particular the renin-angiotensin system and renal salt handling, are of major importance in blood pressure regulation. Co-existence of hypertension and decreased renal function may be due to nephrosclerosis secondary to hypertension, or primary renal disease with secondary...... hypertension. Mild degrees of chronic kidney disease (CKD) can be detected in around 10% of the population, and detection is important as CKD is an important risk factor for atherosclerotic cardiovascular disease. Conversely, heart failure may cause an impairment of renal function. In chronic progressive...... nephropathy, effective blood pressure lowering is of paramount importance, and angiotensin converting enzyme inhibitors and angiotensin receptor blockers are agents of choice Udgivelsesdato: 2009/6/15...

  14. Self-referential and social cognition in a case of autism and agenesis of the corpus callosum

    Directory of Open Access Journals (Sweden)

    Lombardo Michael V

    2012-11-01

    Full Text Available Abstract Background While models of autism spectrum conditions (ASC are emerging at the genetic level of analysis, clear models at higher levels of analysis, such as neuroanatomy, are lacking. Here we examine agenesis of the corpus callosum (AgCC as a model at the level of neuroanatomy that may be relevant for understanding self-referential and social-cognitive difficulties in ASC. Methods We examined performance on a wide array of tests in self-referential and social-cognitive domains in a patient with both AgCC and a diagnosis of ASC. Tests included a depth-of-processing memory paradigm with self-referential and social-cognitive manipulations, self-report measures of self-consciousness, alexithymia, and empathy, as well as performance measures of first-person pronoun usage and mentalizing ability. The performance of the AgCC patient was compared to a group of individuals with ASC but without AgCC and with neurotypical controls. These comparison groups come from a prior study where group differences were apparent across many measures. We used bootstrapping to assess whether the AgCC patient exhibited scores that were within or outside the 95% bias-corrected and accelerated bootstrap confidence intervals observed in both comparison groups. Results Within the depth-of-processing memory paradigm, the AgCC patient showed decreased memory sensitivity that was more extreme than both comparison groups across all conditions. The patient’s most pronounced difficulty on this task emerged in the social-cognitive domain related to information-processing about other people. The patient was similar to the ASC group in benefiting less from self-referential processing compared to the control group. Across a variety of other self-referential (i.e. alexithymia, private self-consciousness and social-cognitive measures (i.e. self-reported imaginative and perspective-taking subscales of empathy, mentalizing, the AgCC patient also showed more extreme scores than

  15. Renal imaging in paediatrics

    International Nuclear Information System (INIS)

    Porn, U.; Hahn, K.; Fischer, S.

    2003-01-01

    The most frequent renal diseases in paediatrics include urinary tract infections, hydronephrosis, kidney anomalies and reflux. The main reason for performing DMSA scintigraphy in paediatrics is the detection of cortical abnormalities related to urinary tract infection. Because the amount of tracer retained in the tubular cells is associated with the distribution of functioning renal parenchyma in the kidney, it is possible, to evaluate the split renal function. In comparison to ultrasound and intravenous urography the sensitivity in the detection of acute as well as chronic inflammatory changes is very high, however less specific. An indication for a renography in neonates and children is beside an estimation of the total renal function and the calculation of the split renal function, the assessment of renal drainage in patients with unclear dilatation of the collecting system in ultrasound. The analysis of the time activity curve provides, especially for follow-up studies, a reproducible method to assess the urinary outflow. The diuretic scintigraphy allows the detection of urinary obstruction. Subsequently it is possible to image the micturition phase to detect vesico-ureteric reflux (indirect MCU) after drainage of tracer from the renal pelvis. An reflux in the ureters or the pelvicalyceal system is visible on the scintigraphic images and can be confirmed by time activity curves. A more invasive technique is the direct isotope cystography with bladder catheterization. The present paper should give an overview about the role of nuclear medicine in paediatric urology. (orig.) [de

  16. Perioperative acute renal failure.

    LENUS (Irish Health Repository)

    Mahon, Padraig

    2012-02-03

    PURPOSE OF REVIEW: Recent biochemical evidence increasingly implicates inflammatory mechanisms as precipitants of acute renal failure. In this review, we detail some of these pathways together with potential new therapeutic targets. RECENT FINDINGS: Neutrophil gelatinase-associated lipocalin appears to be a sensitive, specific and reliable biomarker of renal injury, which may be predictive of renal outcome in the perioperative setting. For estimation of glomerular filtration rate, cystatin C is superior to creatinine. No drug is definitively effective at preventing postoperative renal failure. Clinical trials of fenoldopam and atrial natriuretic peptide are, at best, equivocal. As with pharmacological preconditioning of the heart, volatile anaesthetic agents appear to offer a protective effect to the subsequently ischaemic kidney. SUMMARY: Although a greatly improved understanding of the pathophysiology of acute renal failure has offered even more therapeutic targets, the maintenance of intravascular euvolaemia and perfusion pressure is most effective at preventing new postoperative acute renal failure. In the future, strategies targeting renal regeneration after injury will use bone marrow-derived stem cells and growth factors such as insulin-like growth factor-1.

  17. Cadmium and renal cancer

    International Nuclear Information System (INIS)

    Il'yasova, Dora; Schwartz, Gary G.

    2005-01-01

    Background: Rates of renal cancer have increased steadily during the past two decades, and these increases are not explicable solely by advances in imaging modalities. Cadmium, a widespread environmental pollutant, is a carcinogen that accumulates in the kidney cortex and is a cause of end-stage renal disease. Several observations suggest that cadmium may be a cause of renal cancer. Methods: We performed a systematic review of the literature on cadmium and renal cancer using MEDLINE for the years 1966-2003. We reviewed seven epidemiological and eleven clinical studies. Results: Despite different methodologies, three large epidemiologic studies indicate that occupational exposure to cadmium is associated with increased risk renal cancer, with odds ratios varying from 1.2 to 5.0. Six of seven studies that compared the cadmium content of kidneys from patients with kidney cancer to that of patients without kidney cancer found lower concentrations of cadmium in renal cancer tissues. Conclusions: Exposure to cadmium appears to be associated with renal cancer, although this conclusion is tempered by the inability of studies to assess cumulative cadmium exposure from all sources including smoking and diet. The paradoxical findings of lower cadmium content in kidney tissues from patients with renal cancer may be caused by dilution of cadmium in rapidly dividing cells. This and other methodological problems limit the interpretation of studies of cadmium in clinical samples. Whether cadmium is a cause of renal cancer may be answered more definitively by future studies that employ biomarkers of cadmium exposure, such as cadmium levels in blood and urine

  18. Renal Branch Artery Stenosis

    DEFF Research Database (Denmark)

    Andersson, Zarah; Thisted, Ebbe; Andersen, Ulrik Bjørn

    2017-01-01

    Renovascular hypertension is a common cause of pediatric hypertension. In the fraction of cases that are unrelated to syndromes such as neurofibromatosis, patients with a solitary stenosis on a branch of the renal artery are common and can be diagnostically challenging. Imaging techniques...... that perform well in the diagnosis of main renal artery stenosis may fall short when it comes to branch artery stenosis. We report 2 cases that illustrate these difficulties and show that a branch artery stenosis may be overlooked even by the gold standard method, renal angiography....

  19. Renal artery stenosis.

    Science.gov (United States)

    Tafur-Soto, Jose David; White, Christopher J

    2015-02-01

    Atherosclerotic renal artery stenosis (RAS) is the single largest cause of secondary hypertension; it is associated with progressive renal insufficiency and causes cardiovascular complications such as refractory heart failure and flash pulmonary edema. Medical therapy, including risk factor modification, renin-angiotensin-aldosterone system antagonists, lipid-lowering agents, and antiplatelet therapy, is advised in all patients. Patients with uncontrolled renovascular hypertension despite optimal medical therapy, ischemic nephropathy, and cardiac destabilization syndromes who have severe RAS are likely to benefit from renal artery revascularization. Screening for RAS can be done with Doppler ultrasonography, CT angiography, and magnetic resonance angiography. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Cryoablation of Renal Angiomyolipoma

    DEFF Research Database (Denmark)

    Makki, Ahmad; Graumann, Ole; Hoyer, Soren

    2017-01-01

    BACKGROUND: Small series have reported that cryoablation (CA) is a safe and feasible minimally invasive nephron-sparing alternative for the treatment of renal angiomyolipomas (renal AMLs). The aim of the present study was to investigate the safety and efficacy of CA in patients with renal AML......-guided CA. The mean patient age was 46 years [interquartile range (IQR) 30] and the mean tumor volume was 50.1 cm(3) (IQR 53.3). In all cases, the procedure was effectively conducted with no conversion to open surgery, and no major complications were experienced. The mean follow-up time was 25 months (IQR...

  1. Acute renal failure in children

    International Nuclear Information System (INIS)

    Vergesslich, K.A.; Balzar, E.; Weninger, M.; Ponhold, W.; Sommer, G.; Wittich, G.R.; Vienna Univ.

    1987-01-01

    Acute renal failure (ARF) may be due to obstructive uropathy or renal parenchymal disease. Twenty-five children with acute renal failure secondary to renal parenchymal disease underwent ultrasonographic examination of the kidneys. Changes of renal size and cortical echogenicity were correlated with renal function. All patients presented with bilaterally enlarged kidneys with the exception in renal function resulted in normalization of renal size. With regard to cortical echogenicity two groups were formed. Group A comprised 11 patients whose kidneys had the same echogenicity as the liver, while in group B the kidneys were more echogenic (14 patients). Cortical echogenicity was always increased. Determination of creatinine levels showed a statistically significant difference between group A (3.32 mg% ± 1.40 S.D.) and group B (5.95 mg% ± 1.96 S.D.), p < 0.001. Changes in renal function were paralleled by rapid changes in renal size and cortical echogenicity. (orig.)

  2. Positive Oct -3/4 and D2-40 Immunohistochemical Expression in Germ Cells and Suspected Histology Pattern of Intratubular Germ Cell Neoplasia in Boys with Cryptorchidism Vanish after the Age of 2 Years

    DEFF Research Database (Denmark)

    Thorup, Jorgen; Clasen-Linde, Erik; Cortes, Dina

    2017-01-01

    of repeat biopsy with anti-stem cell factor (SCF) receptor.  Results  The prevalence of Oct-3/4 and D2-40-positive staining of germ cells in testicular biopsies were in age groups less than 6 months, 100% and 50%; 6-12 months, 60% and 17%; and 1-2 years, 12% and 4%. A 1 year, 1-month-old boy with Prader-Willi...... syndrome treated with growth hormone had ITGCN in both cryptorchid testes. In another three bilateral nonsyndromic cases, 8 months, 8 months and 1-year-old, a histological pattern in accordance with ITGCN was found. These three boys had a repeat biopsy from both testes performed at the age of 3 years, 4......, but no increased risk of malignancy.  Materials and Methods  Histology sections from 373 testicular biopsies from 289 boys aged 1 month to 2 years operated for cryptorchidism were incubated with primary antibodies including anti-placental-like-alkaline phosphatase, antiOct-3/4, anti-C-kit, anti-D2-40, and in case...

  3. Renal tumors in infancy

    International Nuclear Information System (INIS)

    Lucaya, J.; Garcia, P.

    1997-01-01

    The classification of childhood renal masses in updated, including the clinical signs and imaging techniques currently employed to confirm their presence and type them. Several bening and malignant childhood tumors are described in substantial detail. (Author) 24 refs

  4. Renal cell carcinoma

    Science.gov (United States)

    ... kidney Patient Instructions Kidney removal - discharge Images Kidney anatomy Kidney tumor - CT scan Kidney metastases, CT scan Kidney - blood and urine flow References Campbell SC, Lane BR. Malignant renal tumors. In: Wein AJ, Kavoussi LR, Partin AW, ...

  5. Primary renal synovial sarcoma

    Directory of Open Access Journals (Sweden)

    Girish D. Bakhshi

    2012-03-01

    Full Text Available Primary Renal Sarcoma is rare tumor comprising only 1% of all renal tumours. Synovial sarcomas are generally deep-seated tumors arising in the proximity of large joints of adolescents and young adults and account for 5-10% of all soft tissue tumours. Primary synovial sarcoma of kidney is rare and has poor prognosis. It can only be diagnosed by immunohistochemistry. It should be considered as a differential in sarcomatoid and spindle cell tumours. We present a case of 33-year-old female, who underwent left sided radical nephrectomy for renal tumour. Histopathology and genetic analysis diagnosed it to be primary renal synovial sarcoma. Patient underwent radiation therapy and 2 years follow up is uneventful. A brief case report with review of literature is presented.

  6. [Small renal mass].

    Science.gov (United States)

    Prokofiev, D; Kreutzer, N; Kress, A; Wissing, F; Pfeifer, H; Stolzenburg, J-U; Dietel, A; Schwalenberg, T; Do, M; Truß, M C

    2012-10-01

    The frequent application of ultrasound and radiological imaging for non-urological indications in recent years has resulted in an increase in the diagnosis of small renal masses. The treatment options for patients with a small renal mass include active surveillance, surgery (both open and minimally invasive) as well as ablative techniques. As there is a risk for metastatic spread even in small renal masses surgical extirpation remains the treatment of choice in most patients. Ablative procedures, such as cryoablation and radiofrequency ablation are appropriate for old and multi-morbid patients who require active treatment of a small renal mass. Active surveillance is an alternative for high-risk patients. Meticulous patient selection by the urologist and patient preference will determine the choice of treatment option in the future.

  7. Common paediatric renal conditions

    African Journals Online (AJOL)

    Few children in South Africa have access to dialysis or renal transplantation, so it is important to .... the chronic administration of antibiotics increases the risk of a UTI with a resistant .... factors for recurrent urinary tract infection in young women.

  8. Renal and perirenal abscesses

    International Nuclear Information System (INIS)

    Patterson, J.E.; Andriole, V.T.

    1987-01-01

    Our knowledge of the spectrum of renal abscesses has increased as a result of more sensitive radiologic techniques. The classification of intrarenal abscess now includes acute focal bacterial nephritis and acute multifocal bacterial nephritis, as well as the previously recognized renal cortical abscess, renal corticomedullary abscess, and xanthogranulomatous pyelonephritis. In general, the clinical presentation of these entities does not differentiate them; various radiographic studies can distinguish them, however. The intrarenal abscess is usually treated successfully with antibiotic therapy alone. Antistaphylococcal therapy is indicated for the renal cortical abscess, whereas therapy directed against the common gram-negative uropathogens is indicated for most of the other entities. The perinephric abscess is often an elusive diagnosis, has a more serious prognosis, and is more difficult to treat. Drainage of the abscess and sometimes partial or complete nephrectomy are required for resolution. 73 references

  9. Lithium and Renal Impairment

    DEFF Research Database (Denmark)

    Nielsen, René Ernst; Kessing, Lars Vedel; Nolen, Willem A

    2018-01-01

    INTRODUCTION: Lithium is established as an effective treatment of mania, of depression in bipolar and unipolar disorder, and in maintenance treatment of these disorders. However, due to the necessity of monitoring and concerns about irreversible adverse effects, in particular renal impairment......, after long-term use, lithium might be underutilized. METHODS: This study reviewed 6 large observational studies addressing the risk of impaired renal function associated with lithium treatment and methodological issues impacting interpretation of results. RESULTS: An increased risk of renal impairment...... associated with lithium treatment is suggested. This increased risk may, at least partly, be a result of surveillance bias. Additionally, the earliest studies pointed toward an increased risk of end-stage renal disease associated with lithium treatment, whereas the later and methodologically most sound...

  10. Renal dynamic scintigraphy in renal graft evaluation; Cintilografia renal dinamica na avaliacao do transplante renal

    Energy Technology Data Exchange (ETDEWEB)

    Cervo, Marco Antonio Cadorna; Amarante Junior, Jose Luiz de Medeiros; Souza, Ricardo Alberto Manhaes de; Evangelista, Maria Gardenia; Cavalcante, Carlos Alberto Provasi; Neder, Jacqueline de Roure e; Espinola, Ircania Jorge [Hospital Naval Marcilio Dias, Rio de Janeiro, RJ (Brazil). Servico de Medicina Nuclear

    1996-12-31

    The goal of this was to describe the use of the dynamic renal scintigraphy in patients grafted. The authors described the scintigraphy method utilised and results were discussed 8 refs., 9 figs., 1 tab.

  11. OBSTETRIC RENAL FAILURE

    Directory of Open Access Journals (Sweden)

    Rajeshwari

    2015-11-01

    Full Text Available Renal failure in obstetrics is rare but important complication, associated with significant mortality and long term morbidity.1,2 It includes acute renal failure due to obstetrical complications or due to deterioration of existing renal disease. AIMS AND OBJECTIVES: To evaluate the etiology and outcome of renal failure in obstetric patients. METHODS: We prospectively analyzed 30 pregnant and puerperal women with acute renal failure or pre-existing renal disease developing renal failure during pregnancy between November 2007 to sep-2009. Patients who presented/developed ARF during the hospital stay were included in this study. RESULTS: Among 30 patients, mean age was 23 years and 33 years age group. 12 cases (40% patients were primigravidae and 9(30% patients were multigravidae and 9 cases (30% presented in post-partum period. Eighteen cases (60% with ARF were seen in third trimester, followed by in postpartum period 9 cases (30%. Most common contributing factors to ARF were Pre-eclampsia, eclampsia and HELLP syndrome 60%, sepsis 56.6%, post abortal ARF 10%. DIC 40%. Haemorrhage as the aetiology for ARF was present 46%, APH in 20% and PPH in 26.6%. The type of ARF was renal in (63% and prerenal (36%; Oliguric seen in 10 patients (33% and high mortality (30%. Among the 20 pregnant patients with ARF, The average period of gestation was 33±2 weeks (30 -36 weeks, 5 cases (25% presented with intrauterine fetal demise and 18 cases (66% had preterm vaginal delivery and 2 cases (10% had induced abortion. And the average birth weight was 2±0.5 kg (1.5 kg. Eight cases (26% required dialysis. 80% of patients recovered completely of renal functions. 63% patients recovered without renal replacement therapy whereas 17% required dialysis. the maternal mortality was 20%, the main reason for mortality was septic shock and multi organ dysfunction (66%. CONCLUSION: ARF related pregnancy was seen commonly in the primigravidae and in the third trimester, the most

  12. Renal artery pseudoaneurysm

    Directory of Open Access Journals (Sweden)

    Luiz Inácio Roman

    Full Text Available Abstract The renal artery pseudoaneurysm embody a rare vascular complication coming of percutaneous procedures, renal biopsy, nephrectomy, penetrating traumas and more rarely blunt traumas. The clinical can be vary according the patient, the haematuria is the symptom more commom. Is necessary a high level of clinical suspicion for your diagnosis, this can be elucidated by through complementary exams as the eco-color Doppler and the computed tomography scan (CT. This report is a case of a patient submitted a right percutaneous renal biopsy and that, after the procedure started with macroscopic haematuria, urinary tenesmus and hypogastric pain. The diagnosis of pseudoaneurysm was given after one week of evolution when the patient was hospitalized because gross haematuria, tachycardia, hypotension and hypochondrium pain. In the angiotomography revealed a focal dilation of the accessory right renal inferior polar artery, dilation of renal pelvis and all the ureteral course with presence hyperdenso material (clots inside the middle third of the ureter. The treatment for the majority of this cases are conservative, through arterial embolization, indicated for thouse of smaller dimensions in patients who are hemodynamically stable. However, it was decided by clinical treatment with aminocaproic acid 1 g, according to previous studies for therapy of haematuria. The patient received discharge without evidence of macroscopic haematuria and with normal renal ultrasound, following ambulatory care.

  13. RENAL MALIGNANT NEOPLASMS: RENAL CELL CARCINOMA

    Directory of Open Access Journals (Sweden)

    Elisangela Giachini

    2017-06-01

    Full Text Available The aim of this study is to evaluate the incidence and prevalence of malignant kidney tumors, to contribute to identifying factors which the diagnosis of renal cell carcinomas. Through this study, we understand that kidney disease over the years had higher incidence rates, especially in adults in the sixth decade of life. The renal cell carcinoma (RCC is the third most common malignancy of the genitourinary tract, affecting 2% to 3% of the population. There are numerous ways of diagnosis; however, the most important are ultrasonography, magnetic resonance imaging and computed tomography. In general most of the patients affected by the CCR, have a good prognosis when diagnosed early and subjected to an effective treatment. This study conducted a literature review about the CCR, through this it was possible to understand the development needs of the imaging methods used for precise diagnosis and classification of RCC through the TNM system.

  14. Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report

    Science.gov (United States)

    2010-01-01

    Background Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting different mesodermal organs such as the heart, lung, and urogenital system. Case report A case showing pulmonary hypoplasia, hip dysplasia, hereditary renal adysplasia, and Mayer-Rokitansky-Kuster-Hauser syndrome in adulthood is reported here. The i.v. pyelography showed right renal agenesis with a normal left kidney and ureter. Ultrasound and Magnetic Resonance Imaging also showed right renal agenesis with multicystic embryonary remnants in the right hemipelvis probably corresponding to a dysgenetic kidney. An uretrocystoscopy showed absence of ectopic ureter and of the right hemitrigone. She was scheduled for a diagnostic laparoscopy and creation of a neovagina according to the McIndoe technique with a prosthesis and skin graft. Laparoscopy confirmed the absence of the uterus. On both sides, an elongated, solid, rudimentary uterine horn could be observed. Both ovaries were also elongated, located high in both abdominal flanks and somewhat dysgenetics. A conventional cytogenetic study revealed a normal female karyotype 46, XX at a level of 550 GTG bands. A CGH analysis was performed using a 244K oligoarray CGH detecting 11 copy number variants described as normal variants in the databases. The 17q12 and 22q11.21 microdeletions described in other MRKH patients were not present in this case. Four years after operation her evolution is normal, without symptoms and the neovagina is adequately functional. The geneticists have studied her family history and the pedigree of the family is shown. Conclusions We suggest that primary damage to the mesoderm (paraaxil, intermediate, and lateral) caused by mutations in a yet unidentified gene is responsible for: 1) skeletal dysplasia, 2) inappropriate interactions between the bronchial mesoderm and endodermal

  15. Renal PTA stenting

    International Nuclear Information System (INIS)

    Tsetis, D.

    2012-01-01

    Full text: Renal artery stenosis (RAS) is a common condition that may lead to hypertension, progressive renal dysfunction and cardiovascular morbidity. Catheter-based therapy for symptomatic, haemodynamically significant, RAS has become the preferred method of revascularization. Balloon angioplasty has been the traditional treatment of choice for fibromuscular dysplasia, however stents are increasingly used for the treatment of atheromatous lesions; in many cases-such as in ostial lesions-, direct stenting is strongly indicated. Despite the increased use of endovascular therapy for renal artery stenosis, there is still controversy regarding the optimal management and the net benefit of this treatment. Several randomized trials of balloon angioplasty or stenting for renal artery stenosis compared with medical therapy alone have been conducted, however these could not show definite advantage of endovascular therapy. Problems encountered with those trials include enrollment of small number of patients, frequent crossover from medical to interventional therapy compromising the intention-to-treat results, or selection of patients that are not expected to show clear benefit. The Angioplasty and Stenting for Renal Artery Lesions (ASTRAL) is the most important of these trials; however, it,s study design was faulty and therefore did not provide conclusive evidence to answer the question of whether angioplasty and stenting or medical therapy is the best treatment for haemodynamically significant RAS. All expectations are now focused on the Cardiovascular Outcomes in Renal Atherosclerotic Lesions (CORAL) trial which was designed to answer the same question, and its methodologies took into consideration the weaknesses of the ASTRAL trial. Regarding stent device itself, it seems that the optimal design is probably a stainless steel, laser cut, open-cells stent mounted on a rapid exchange delivery balloon catheter compatible with 0.014-in and 0.018-in guidewire. As a future

  16. Distal renal tubular acidosis in recurrent renal stone formers

    DEFF Research Database (Denmark)

    Osther, P J; Hansen, A B; Røhl, H F

    1989-01-01

    Renal acidification ability was examined in 90 recurrent renal stone formers, using fasting morning urinary pH levels followed by a short ammonium chloride loading test in subjects with pH levels above 6.0. Fifteen patients (16.6%) revealed a distal renal tubular acidification defect: one patient......, this has important therapeutic implications. The pathological sequence in renal stone formers with dRTA is discussed....

  17. Renal sympathetic denervation: MDCT evaluation of the renal arteries.

    LENUS (Irish Health Repository)

    Hutchinson, Barry D

    2013-08-01

    Percutaneous transluminal renal sympathetic denervation is a new treatment of refractory systemic hypertension. The purpose of this study was to assess the clinical utility of MDCT to evaluate the anatomic configuration of the renal arteries in the context of renal sympathetic denervation.

  18. Imaging chronic renal disease and renal transplant in children

    International Nuclear Information System (INIS)

    Carmichael, Jim; Easty, Marina

    2010-01-01

    At Great Ormond Street Hospital we have the highest number of paediatric renal transplant patients in Europe, taking cases from across the United Kingdom and abroad. Our caseload includes many children with rare complicating medical problems and chronic renal failure related morbidity. This review aims to provide an overview of our experience of imaging children with chronic renal failure and transplants. (orig.)

  19. Eligibility for renal denervation

    DEFF Research Database (Denmark)

    Persu, Alexandre; Jin, Yu; Baelen, Marie

    2014-01-01

    -resistant hypertension (ENCOReD). The analysis included 731 patients. Age averaged 61.6 years, office blood pressure at screening was 177/96 mm Hg, and the number of blood pressure-lowering drugs taken was 4.1. Specialists referred 75.6% of patients. The proportion of patients eligible for renal denervation according...... undetected secondary causes of hypertension (11.1%). In conclusion, after careful screening and treatment adjustment at hypertension expert centers, only ≈40% of patients referred for renal denervation, mostly by specialists, were eligible for the procedure. The most frequent cause of ineligibility...... (approximately half of cases) was blood pressure normalization after treatment adjustment by a hypertension specialist. Our findings highlight that hypertension centers with a record in clinical experience and research should remain the gatekeepers before renal denervation is considered....

  20. [Renal colic in pregnancy].

    Science.gov (United States)

    Negru, Irina; Pricop, C; Costăchescu, Gh

    2010-01-01

    Renal colic in pregnant women is a serious condition, mainly when is associated with fever. Our retro-prospective study analyzes 111 cases managed conservatively or with endourological procedures for renal colic--insertion of JJ stents and percutaneous nephrostomy. Clinical evolution determined the insertion of JJ stents in 60 cases and the failure of this procedure imposed percutaneous nephrostomy in 5 cases. In 56 cases urinary tract infection was associated and in 2 cases, despite all efforts, the patients deceased due to sever sepsis. The immediate drainage of the upper urinary tract for renal colic in pregnancy is the recommended treatment, especially when the pain is associated with fever. JJ stens were well tolerated, even when they were replaced after 3 months. Pregnant women with a history of UTI or stone disease should be carefully followed-up.

  1. Renal cell karcinoma trial

    International Nuclear Information System (INIS)

    Werf-Messing, B. van der; Heul, R.O. van der; Ledeboer, R.C.

    1981-01-01

    A total of 174 patients underwent simple nephrectomy in case of clinically operable kidney cancer without demonstrable metastases. Of these 85 received preoperative irradiation to the kidney and the regional lymph nodes (3000-4000 rad in 3-4 weeks). Prognosis was not influenced by preoperative irradiation. The preoperatively assessable prognostic criteria were sex and sedimentation rate: ESR >= 30 and being male worsened prognosis. The clinical T-categories of the UICC were not related to prognosis. Of the microscopic examination of the nephrectomy specimen, renal vein invasion and to a lesser extent a low degree of differentiation appeared to worsen prognosis. The prognostic influence of the P-categories was caused by a higher incidence of renal vein involvement in case of higher P-category. The most important prognostic factors - ESR, renal vein involvement, and sex - were not interrelated. Elective chemotherapy, radiation therapy, and hormone therapy could be considered in certain high-risk groups. (orig.)

  2. Scintigraphy of renal transplant

    International Nuclear Information System (INIS)

    Ramackers, J.M.; Marrast, A.C.; Touraine, J.L.; Peyrin, J.O.

    1995-01-01

    Scintigraphy is useful for monitoring perfusion and function of renal transplant, as well as for diagnosing miscellaneous surgical. This non-invasive imaging technique, which uses no deleterious products, is an attractive alternative for patients. This is especially true for those patients in early post-transplant course, with immunity depression and often impairment of renal function. Otherwise, multiple indices with a large range of inter-patient values has not favoured a methodological and interpretative consensus. Furthermore, the poor specificity of renogram patterns does not allow for discrimination of all etiologies with only one scintigraphy. Nevertheless, follow-up with iterative scintigraphy may be helpful due to the high intra-patient reproducibility and to the early appreciate change of parameters, according to clinical and histological renal post-transplant outcome. (authors). 43 refs., 8 figs

  3. Drug-induced renal injury

    African Journals Online (AJOL)

    The kidney receives a rich blood flow of 25% of resting cardiac output ... Drugs can cause acute renal failure by causing pre-renal, intrinsic or .... tubular epithelial cells causing cell swelling ... the dose as required or prescribe alternative drugs.

  4. Leiomyosarcoma of the renal pelvis

    Directory of Open Access Journals (Sweden)

    Dhamne Sagar

    2009-10-01

    Full Text Available Leiomyosarcomas are rare malignant tumors of the kidney. They may arise from the renal capsule, renal vein, renal pelvic musculature or renal parenchyma. Renal pelvis is an uncommon site of occurrence, with around 10 cases reported in the literature so far. Here we present a 60-year-old male who presented with increased urinary frequency, lower limb weakness, anorexia and weight loss. Imaging showed a right renal mass. A renal cell carcinoma was suspected clinically. A right nephrectomy was performed, which showed a large circumscribed mass in the hilar region. Histology revealed a tumor mass arising from the renal pelvis. The tumor was composed of spindle cells arranged in fascicles. Immunohistochemistry showed tumor cells to be positive for smooth muscle actin (SMA and desmin (Des and negative for cytokeratin (CK, HMB 45, CD117 (C-kit, and CD34. That confirmed the diagnosis of leiomyosarcoma.

  5. Renal denervation and hypertension.

    Science.gov (United States)

    Schlaich, Markus P; Krum, Henry; Sobotka, Paul A; Esler, Murray D

    2011-06-01

    Essential hypertension remains one of the biggest challenges in medicine with an enormous impact on both individual and society levels. With the exception of relatively rare monogenetic forms of hypertension, there is now general agreement that the condition is multifactorial in nature and hence requires therapeutic approaches targeting several aspects of the underlying pathophysiology. Accordingly, all major guidelines promote a combination of lifestyle interventions and combination pharmacotherapy to reach target blood pressure (BP) levels in order to reduce overall cardiovascular risk in affected patients. Although this approach works for many, it fails in a considerable number of patients for various reasons including drug-intolerance, noncompliance, physician inertia, and others, leaving them at unacceptably high cardiovascular risk. The quest for additional therapeutic approaches to safely and effectively manage hypertension continues and expands to the reappraisal of older concepts such as renal denervation. Based on the robust preclinical and clinical data surrounding the role of renal sympathetic nerves in various aspects of BP control very recent efforts have led to the development of a novel catheter-based approach using radiofrequency (RF) energy to selectively target and disrupt the renal nerves. The available evidence from the limited number of uncontrolled hypertensive patients in whom renal denervation has been performed are auspicious and indicate that the procedure has a favorable safety profile and is associated with a substantial and presumably sustained BP reduction. Although promising, a myriad of questions are far from being conclusively answered and require our concerted research efforts to explore the full potential and possible risks of this approach. Here we briefly review the science surrounding renal denervation, summarize the current data on safety and efficacy of renal nerve ablation, and discuss some of the open questions that need

  6. Imaging of Renal Leiomyomas

    Energy Technology Data Exchange (ETDEWEB)

    Derchi, L. E.; Grenier, N.; Heinz-Peer, G.; Dogra, V.; Franco, F.; Rollandi, G. A.; Deminiere, C. (Radiologia - DICMI, Univ. di Genova, Genova (Italy))

    2008-09-15

    Background: Renal leiomyomas are rare benign tumors of the kidney which can be found at autopsy as small capsular nodules in about 5% of cases. The clinical incidence of such lesions is much smaller, and only case reports or small series have been reported in the imaging literature. Purpose: To describe the imaging characteristics observed in a series of eight patients with pathology-proven asymptomatic leiomyomas of the kidney. Material and Methods: We reviewed the imaging findings observed in eight patients with pathologically proven asymptomatic renal leiomyomas discovered during studies performed for reasons unrelated to the kidney. All patients had undergone computed tomography (CT), two ultrasonography, and one magnetic resonance imaging (MRI). Results: Lesions ranged in size from 1.2 to 13 cm. Six were at the periphery of the kidney, compressed its outer surface, but did not cause disruption of the cortex; two involved the renal cortex. All had regular outer margins. A cleavage plane between the tumor and the kidney was revealed at CT and/or ultrasonography in three of the cases located at the periphery. At ultrasonography, leiomyomas appeared hypoechogenic. At CT, they were slightly hyperdense before contrast medium injection; all were hypodense to the renal cortex after contrast medium. Four were homogeneous, two were slightly heterogeneous, and the remaining two were frankly heterogeneous. The lesion studied by MRI, which was homogeneous at the postcontrast CT study, had a heterogeneous structure on both T1- and T2-weighted images, with internal areas of hypointensity on T1. Conclusion: There are some imaging findings that can help to suggest the diagnosis of renal leiomyomas. First, their density: all tumors examined before contrast were hyperdense to the kidney, with density similar to that of muscles, and all had lower enhancement than the adjacent renal parenchyma. Second, the location and margins of the tumors: most were peripheral, without

  7. Renal lithiasis and nutrition

    Directory of Open Access Journals (Sweden)

    Prieto Rafel M

    2006-09-01

    Full Text Available Abstract Renal lithiasis is a multifactorial disease. An important number of etiologic factors can be adequately modified trough diet, since it must be considered that the urine composition is directly related to diet. In fact, the change of inappropriate habitual diet patterns should be the main measure to prevent kidney stones. In this paper, the relation between different dietary factors (liquid intake, pH, calcium, phosphate, oxalate, citrate, phytate, urate and vitamins and each type of renal stone (calcium oxalate monohydrate papillary, calcium oxalate monohydrate unattached, calcium oxalate dihydrate, calcium oxalate dihydrate/hydroxyapatite, hydroxyapatite, struvite infectious, brushite, uric acid, calcium oxalate/uric acid and cystine is discussed.

  8. Management of chronic renal failure.

    NARCIS (Netherlands)

    de Zeeuw, D.; Apperloo, AJ; de Jong, P.

    1992-01-01

    There is growing evidence that treatment of patients with renal function impairment will undergo a major shift within the next few years. Along with more or less successful attempts to alleviate the signs and symptoms of reduced renal function, new insights into renal pathophysiology as well as new

  9. Screening renal stone formers for distal renal tubular acidosis

    DEFF Research Database (Denmark)

    Osther, P J; Hansen, A B; Røhl, H F

    1989-01-01

    A group of 110 consecutive renal stone formers were screened for distal renal tubular acidosis (RTA) using morning fasting urinary pH (mfUpH) levels followed by a short ammonium chloride loading test in patients with levels above 6.0. In 14 patients (12.7%) a renal acidification defect was noted...... RTA in renal stone formers. Regardless of whether the acidification defect is primary or secondary to stone formation, however, all renal stone formers with distal RTA can expect to benefit from prophylactic alkaline therapy and it is recommended that the screening procedure, which is easy to use...

  10. Angiography for renal hypertension

    International Nuclear Information System (INIS)

    Chuang, V.P.; Ernst, C.B.

    1985-01-01

    As angioplasty and operative techniques have become more precise and successful, so have evaluation techniques. Preoperative arteriography is indispensible for deciding on the appropriate treatment modality and the specifics of the procedure. Arteriography, therefore, remains the cornerstone in managing renovascular hypertension and renal arterial disease

  11. Dopamins renale virkninger

    DEFF Research Database (Denmark)

    Olsen, Niels Vidiendal

    1990-01-01

    is frequently employed in cases of acute oliguric renal failure but the results available concerning the therapeutic effect are frequently retrospective and uncontrolled. The results suggest that early treatment with 1-3 micrograms/kg/min dopamine combined with furosemide can postpone or possibly render...

  12. Primary renal graft thrombosis

    NARCIS (Netherlands)

    Bakir, N; Sluiter, WJ; Ploeg, RJ; van Son, WJ; Tegzess, Adam

    Background. Renal allograft thrombosis is a serious complication of kidney transplantation that ultimately leads to graft loss. Its association with acute and hyperacute rejection is well documented; however, in a large proportion of patients the precise cause remains obscure. The exact incidence

  13. Acute renal dysfunction in liver diseases

    OpenAIRE

    Betrosian, Alex P; Agarwal, Banwari; Douzinas, Emmanuel E

    2007-01-01

    Renal dysfunction is common in liver diseases, either as part of multiorgan involvement in acute illness or secondary to advanced liver disease. The presence of renal impairment in both groups is a poor prognostic indicator. Renal failure is often multifactorial and can present as pre-renal or intrinsic renal dysfunction. Obstructive or post renal dysfunction only rarely complicates liver disease. Hepatorenal syndrome (HRS) is a unique form of renal failure associated with advanced liver dise...

  14. [Obstructed hemivagina and ipsilateral renal anomaly: unusual cause of piocolpos. Report a case and review of literature ].

    Science.gov (United States)

    Cortés-Contreras, Diana Karen; Juárez-Cruz, Patricio Manuel; Vázquez-Flores, José; Vázquez-Flores, Al David

    2014-10-01

    OHVIRA (Obstructed hemivagina and ipsilateral renal anomaly) by acronym and abbreviations in English or Herlyn Werner Wunderlich syndrome is a rare congenital malformation caused by an alteration in the Mullerian ducts and Wolffian Ducts. Which is characterized by a triad: uterus didelphys, obstructed and ipsilateral renal agenesis hemivagina still uncertain etiology. Patients are usually asymptomatic until menarche where the most common clinical presentation is pelvic pain, followed by a vaginal or abdominal mass, normal menstrual periods, infertility, and vaginal discharge rarely appears. The case of a female patient of 15 years, nubile with chronic fetid vaginal discharge, initially diagnosed and treated as pelvic inflammatory disease occurs, however because it is an exceptional condition with the background of the patient, by complementary studies were conducted where pelvic ultrasound revealed pyocolpos and absence of left kidney, uterus didelphys, blind hemivagina by other imaging studies, where we could integrate Herlyn-Werner-Wunderlich syndrome. In conclusion, abnormalities in the development of the Miillerian ducts are difficult to diagnose early, so you must have the embryological knowledge, conduct thorough clinical assessment and detailed picture in whom the coridition is suspected to identify malformations coexisting urinary tract and vaginal defects with the importance of preserving reproductive success through appropriate planning of surgical approach, given that the fertility rate in these patients is comparable to the average.

  15. Má oclusão Classe I de Angle com agenesia de incisivos laterais Angle Class I malocclusion and agenesis of lateral incisors

    Directory of Open Access Journals (Sweden)

    Fernanda Catharino Menezes Franco

    2011-08-01

    Full Text Available O planejamento ortodôntico de pacientes com agenesia de incisivos laterais envolve considerações estéticas e funcionais de grande relevância para um resultado clínico satisfatório. Tanto o fechamento dos espaços correspondentes aos dentes ausentes quanto sua abertura ou manutenção oferecem vantagens e desvantagens que devem ser avaliadas de acordo com as características individuais do paciente. Fatores importantes que influenciam o planejamento são o padrão esquelético, o tipo de má oclusão e a coloração e forma dos caninos, dentre outros. Neste artigo, teve-se como objetivo relatar o tratamento de uma paciente com má oclusão Classe I de Angle, agenesia de incisivos laterais, sobressaliência e sobremordida diminuídas, tendência à mordida aberta e mordida cruzada.A abordagem clínica foi realizada com expansão maxilar, seguida de fechamento dos espaços, com auxílio de ancoragem esquelética extrabucal. Esse caso foi apresentado à diretoria do Board Brasileiro de Ortodontia e Ortopedia Facial (BBO, como parte dos requisitos para a obtenção do título de Diplomado pelo BBO.Orthodontic planning for patients with agenesis of lateral incisors should include extremely relevant esthetic and functional considerations so that a satisfactory clinical result is achieved. Both space closure and space opening and maintenance have advantages and disadvantages that should be evaluated according to the patient's individual characteristics. Some of the important factors that affect planning are the skeletal pattern, the type of malocclusion and the color and shape of canines. This study reports on the treatment of a patients with Class I malocclusion and agenesis of lateral incisors, overjet, decreased overbite, and a tendency to open bite and crossbite. The clinical approach included palatal expansion followed by space closure using extraoral anchorage. This case was presented to the Committee of the Brazilian Board of Orthodontics

  16. CT findings of renal abscess

    International Nuclear Information System (INIS)

    Lee, Myung Jun; Kim, Mi Young; Woo, Jung Ju; Kim, Ho Kyun; Kim, Won Hong; Jeon, Jeong Dong; Jeon, Woo Ki; Han, Chang Yul

    1996-01-01

    The purpose of this study is to determine characteristic CT findings in renal abscess. Twenty cases of renal abscess were retrospectively analyzed for CT findings relating to the shape and extent of the abscess, change of nephrogram, peripheral rim enhancement, wedge-shaped enhancement on delayed scans, enlargement of the kidney involved and associated findings. Seven patients had a renal abscess at the right kidney, nine at the lift kidney and two bilaterally. The abscesses were round in 18 cases and finger-like in two. Rim enhancement around renal abscess was seen in four cases (20%). Changes in the nephrogram around the abscess were seen in 12 cases (60%). In all six patients who had undergone delayed postcontrast scans, wedge-shaped enhancement was shown around the abscess (100%). In the observation of the extent of renal abscesses, 14 cases were within the kidney, six cases extended the beyond renal capsule, and two were loculated in the renal fascia itself. Renal enlargement was seen in nine cases (45%). These results suggest that CT findings such as delayed wedge-shaped enhancement, change of nephrogram, peripheral rim enhancement, renal enlargement, and associated findings are valuable for diagnosis, and that CT also gives information concerning the extent, evolution and complication of a renal abscess

  17. Bilateral renal calculi

    Science.gov (United States)

    Sreenevasan, G

    1974-01-01

    Bilateral renal calculi were present in 114 (10.7%) of 1,070 cases of proved urinary calculus admitted to the Urological Department of the General Hospital, Kuala Lumpur, during the period November 1968—May 1973. The management of bilateral renal calculi is discussed with reference to the first 100 cases in this series. The introduction of renography has greatly facilitated the decision as to which kidney should be operated on first. The management of patients with and without uraemia is discussed and the use of the modified V and V—Y incisions for the removal of staghorn calculi is described. Complications and results are briefly reviewed. ImagesFig. 1Fig. 4Fig. 6Fig. 7 PMID:4845653

  18. Renal protection in diabetes

    DEFF Research Database (Denmark)

    Parving, H H; Tarnow, L; Rossing, P

    1996-01-01

    BACKGROUND: The combination of diabetes and hypertension increases the chances of progressive renal disorder and, ultimately, renal failure. Roughly 40% of all diabetics, whether insulin-dependent or not, develop diabetic nephropathy. Diabetic nephropathy is the single most important cause of end...... function in diabetic patients with incipient diabetic nephropathy. There are still no long-term trials using the new long-acting dihydropyridine calcium antagonists to treat patients with incipient nephropathy. A recent, 1-year, randomized, double-blind study in hypertensive insulin-dependent diabetic...... identical in both treatment groups, at 103 (SD 9) and 101 (SD 11) mmHg, respectively. Furthermore, a recent 5-year randomized open study in hypertensive non-insulin-dependent patients with diabetic nephropathy has revealed the same beneficial effect of a calcium antagonist and of ACE inhibition...

  19. Renal computed angiography. Part I: Renal CT arteriography in hypertension

    International Nuclear Information System (INIS)

    Al-Amin, M.; Hadjidekov, V.

    2012-01-01

    Visualization of renal vasculature is needed in several clinical condition among which hypertension is dominant. CT angiography now day replaces catheter angiography as non-invasive method. The goal of this study is to present initial authors experience in visualization of renal arteries using 64 MDCT and to evaluated the utility in hypertensive patients. MDCT assures excellent assessment of renal arteries conditions. Multiplanar reconstruction and allow better delineation in tortuous vessels course and anatomic variants. (authors)

  20. Renal phosphate handling: Physiology

    Directory of Open Access Journals (Sweden)

    Narayan Prasad

    2013-01-01

    Full Text Available Phosphorus is a common anion. It plays an important role in energy generation. Renal phosphate handling is regulated by three organs parathyroid, kidney and bone through feedback loops. These counter regulatory loops also regulate intestinal absorption and thus maintain serum phosphorus concentration in physiologic range. The parathyroid hormone, vitamin D, Fibrogenic growth factor 23 (FGF23 and klotho coreceptor are the key regulators of phosphorus balance in body.

  1. Efficacy of ultrasonography-guided renal biopsy for the evaluation of renal dysfunction following renal transplantation

    International Nuclear Information System (INIS)

    Kim, Young Jae; Choi, Chul Soon; Min, Seon Jeong; Lee, Gyung Kyu; Lee, Eil Seong; Kang, Ik Won; Bae, Sang Hoon

    2003-01-01

    To evaluate the usefulness and complications of renal biopsy under ultrasonography-guidance in renal dysfunction after renal transplantation. Ultrasonography-guided renal biopsy was done in 47 patients with the transplanted kidney. The subjects consisted of 30 males and 17 females, age ranged from 16 to 66 years (average age=38 years). Biopsies were done once in 27 patients, twice in 17 patients, three times in 3 patients, a total of 70 biopsies. The success rate of renal biopsy for the accurate pathologic diagnosis and the incidence and types of complications following biopsy were evaluated. The success rate of renal biopsy for the accurate pathologic diagnosis was 96%(67/70). Pathologic diagnosis included 27 cases of acute rejection (39%), 8 cases of acute tubular necrosis (11%), 4 cases of acute rejection and acute tubular necrosis (6%), 4 cases of cyclosporin toxicity (6%), 4 cases of primary disease recurrence (6%), 4 cases of infection (6%) and others. Complications after renal biopsy included 15 cases of microscopic hematuria (21%), 1 case of gross hematuria with spontaneous cessation and 1 case of life threatening hemorrhage. Ultrasonography-guided renal biopsy is a safe and effective diagnostic method for the evaluation of renal dysfunction following renal transplantation.

  2. Renal angiomyoadenomatous tumour: Imaging features

    Science.gov (United States)

    Sahni, V. Anik; Hirsch, Michelle S.; Silverman, Stuart G.

    2012-01-01

    Renal angiomyoadenomatous tumour is a rare, recently described neoplasm with a distinctive histological appearance. Although reported in the pathology literature, to our knowledge, no prior reports have described its imaging appearance. We describe the computed tomography and magnetic resonance imaging features of an incidentally detected renal angiomyoadenomatous tumour that appeared as a well-marginated, solid T2-hypointense enhancing mass, in a 50-year-old woman. It is indistinguishable from a variety of benign and malignant renal neoplasms. PMID:23093565

  3. Multiple oncocytomas and renal carcinoma

    International Nuclear Information System (INIS)

    Velasquez, G.; Glass, T.A.; D'Souza, V.J.; Formanek, A.G.

    1984-01-01

    Renal oncocytoma, although rare, is being diagnosed more frequently, and criteria to differentiate it from other tumors have been described. Multiple oncocytomas have been reported, but an association between multiple oncocytomas and renal carcinoma in the same kidney has not been described. The authors report a case with two oncocytomas and a renal carcinoma in the right kidney as well as a right adrenal adenoma

  4. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.

    Science.gov (United States)

    Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels; Petersen, Michael B

    2016-12-21

    The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed. The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal

  5. CT features of renal infarction

    International Nuclear Information System (INIS)

    Suzer, Okan; Shirkhoda, Ali; Jafri, S. Zafar; Madrazo, Beatrice L.; Bis, Kostaki G.; Mastromatteo, James F.

    2002-01-01

    Purpose: To demonstrate the different patterns of renal infarction to avoid pitfalls. To present 'flip-flop enhancement' pattern in renal infarction. Materials and methods: Retrospective review of a total of 41 renal infarction in 37 patients were done. These patients underwent initial CT and the diagnosis of renal infarction was confirmed with either follow up CT or at surgery. Results: Twenty-three patients had wedge-shaped focal infarcts, nine patients had global and five patients had multifocal infarcts of the kidneys. Cortical rim sign was seen predominantly with global infarcts. In five patients, a 'flip-flop enhancement' pattern was observed. In two patients, planned renal biopsies due to tumefactive renal lesions were cancelled because of 'flip-flop enhancement' pattern on follow up CTs. Conclusion: Although most of our cases were straightforward for the diagnosis of renal infarction, cases with tumefactive lesions and global infarctions without the well-known cortical rim sign were particularly challenging. We describe a new sign, flip-flop enhancement pattern, which we believe solidified the diagnosis of renal infarction in five of our cases. The authors recommend further investigations for association of flip-flop enhancement and renal infarction

  6. Sporotrichosis in Renal Transplant Patients

    Directory of Open Access Journals (Sweden)

    Paulo Gewehr

    2013-01-01

    Full Text Available The current report describes two renal transplant recipients who presented with sporotrichosis. In addition, the authors review the general aspects of sporotrichosis in renal transplant recipients reported in the literature. Sporotrichosis is a rare fungal infection in transplant patients and has been reported primarily in renal transplant recipients not treated with antifungal prophylaxis. Extracutaneous forms of sporotrichosis without skin manifestations and no previous history of traumatic injuries have been described in such patients and are difficult to diagnose. Renal transplant recipients with sporotrichosis described in the present report were successfully treated with antifungal therapy including amphotericin B deoxycholate, lipid amphotericin B formulations, fluconazole and itraconazole.

  7. Renal myxoma: a case report

    Directory of Open Access Journals (Sweden)

    Carlos Henrique C Souza

    2015-04-01

    Full Text Available Myxomas are rare tumors that can appear in many anatomical locations. There are only 14 cases of renal involvement documented in the literature. This article reports a case of renal myxoma in an elderly woman with recurrent cystitis. After five years of follow-up, the computed tomography (CT revealed a large solid tumor mass in the left kidney. Tumor resection was performed preserving the affected kidney with histopathological diagnosis of renal myxoma. The objective of this study is to report a rare case of renal myxoma, emphasizing the importance of the differential diagnosis from other benign and malignant mesenchymal tumors.

  8. Renal computed angiography. Part I: Renal CT phlebography. Renal veins variants

    International Nuclear Information System (INIS)

    Al-Amin, M.; Krupev, M.; Hadjidekov, V.; Plachkov, I.

    2012-01-01

    The changing trend in renal surgery, transplantation and minimal invasive urology implies preprocedure evaluation of renal veins. Development of imaging methods offers new possibilities for venographic visualization. The goal of this study is to present authors experience in visualization of renal veins using 64 MDCT and to evaluate the utility in assessments of their variants. 128 patients (68 females and 60 males, mean age 53,3) with urological complaints underwent 64MDCT examination including CT angiography. Contrast enhancement includes 3-4ml/sec injection flow of 90 ml contrast medium followed by 20 ml saline at the same rate. In 23 out of 128 examined patients some of the common variants of the renal vein is found. 64 MDCT angiography visualize very well renal veins and becomes method of choice in preoperative assessment of renal vein anatomy. (authors)

  9. General Information about Renal Cell Cancer

    Science.gov (United States)

    ... Tumors Treatment Genetics of Kidney Cancer Research Renal Cell Cancer Treatment (PDQ®)–Patient Version General Information About Renal Cell Cancer Go to Health Professional Version Key Points Renal ...

  10. Treatment Option Overview (Renal Cell Cancer)

    Science.gov (United States)

    ... Tumors Treatment Genetics of Kidney Cancer Research Renal Cell Cancer Treatment (PDQ®)–Patient Version General Information About Renal Cell Cancer Go to Health Professional Version Key Points Renal ...

  11. The renal scan in pregnant renal transplant patients

    International Nuclear Information System (INIS)

    Goldstein, H.A.; Ziessman, H.A.; Fahey, F.H.; Collea, J.V.; Alijani, M.R.; Helfrich, G.B.

    1985-01-01

    With the greater frequency of renal transplant surgery, more female pts are becoming pregnant and carrying to term. In the renal allograft blood vessels and ureter may be compressed resulting in impaired renal function and/or, hypertension. Toxemia of pregnancy is seen more frequently than normal. Radionuclide renal scan monitoring may be of significant value in this high risk obstetrical pt. After being maintained during the pregnancy, renal function may also deteriorate in the post partum period. 5 pregnant renal transplant pts who delivered live babies had renal studies with Tc-99m DTPA to assess allograft perfusion and function. No transplanted kidney was lost during or after pregnancy as a result of pregnancy. No congenital anomalies were associated with transplant management. 7 studies were performed on these 5 pts. The 7 scans all showed the uterus/placenta. The bladder was always distorted. The transplanted kidney was rotated to a more vertical position in 3 pts. The radiation dose to the fetus is calculated at 0.024 rad/mCi administered. This study demonstrates the anatomic and physiologic alterations expected in the transplanted kidney during pregnancy when evaluated by renal scan and that the radiation burden may be acceptable in management of these pts

  12. Renal posttransplant's vascular complications

    Directory of Open Access Journals (Sweden)

    Bašić Dragoslav

    2003-01-01

    Full Text Available INTRODUCTION Despite high graft and recipient survival figures worldwide today, a variety of technical complications can threaten the transplant in the postoperative period. Vascular complications are commonly related to technical problems in establishing vascular continuity or to damage that occurs during donor nephrectomy or preservation [13]. AIM The aim of the presenting study is to evaluate counts and rates of vascular complications after renal transplantation and to compare the outcome by donor type. MATERIAL AND METHODS A total of 463 kidneys (319 from living related donor LD and 144 from cadaveric donor - CD were transplanted during the period between June 1975 and December 1998 at the Urology & Nephrology Institute of Clinical Centre of Serbia in Belgrade. Average recipients' age was 33.7 years (15-54 in LD group and 39.8 (19-62 in CD group. Retrospectively, we analyzed medical records of all recipients. Statistical analysis is estimated using Hi-squared test and Fischer's test of exact probability. RESULTS Major vascular complications including vascular anastomosis thrombosis, internal iliac artery stenosis, internal iliac artery rupture obliterant vasculitis and external iliac vein rupture were analyzed. In 25 recipients (5.4% some of major vascular complications were detected. Among these cases, 22 of them were from CD group vs. three from LD group. Relative rate of these complications was higher in CD group vs. LD group (p<0.0001. Among these complications dominant one was vascular anastomosis thrombosis which occurred in 18 recipients (17 from CD vs. one from LD. Of these recipients 16 from CD lost the graft, while the rest of two (one from each group had lethal outcome. DISCUSSION Thrombosis of renal allograft vascular anastomosis site is the most severe complication following renal transplantation. In the literature, renal allograft thrombosis is reported with different incidence rates, from 0.5-4% [14, 15, 16]. Data from the

  13. Citrato y litiasis renal

    Directory of Open Access Journals (Sweden)

    Elisa E. Del Valle

    2013-08-01

    Full Text Available El citrato es un potente inhibidor de la cristalización de sales de calcio. La hipocitraturia es una alteración bioquímica frecuente en la formación de cálculos de calcio en adultos y especialmente en niños. El pH ácido (sistémico, tubular e intracelular es el principal determinante de la excreción de citrato en la orina. Si bien la mayoría de los pacientes con litiasis renal presentan hipocitraturia idiopática, hay un número de causas para esta anormalidad que incluyen acidosis tubular renal distal, hipokalemia, dietas ricas en proteínas de origen animal y/o dietas bajas en álcalis y ciertas drogas, como la acetazolamida, topiramato, IECA y tiazidas. Las modificaciones dietéticas que benefician a estos pacientes incluyen: alta ingesta de líquidos y frutas, especialmente cítricos, restricción de sodio y proteínas, con consumo normal de calcio. El tratamiento con citrato de potasio es efectivo en pacientes con hipocitraturia primaria o secundaria y en aquellos desordenes en la acidificación, que provocan un pH urinario persistentemente ácido. Los efectos adversos son bajos y están referidos al tracto gastrointestinal. Si bien hay diferentes preparaciones de citrato (citrato de potasio, citrato de sodio, citrato de potasio-magnesio en nuestro país solo está disponible el citrato de potasio en polvo que es muy útil para corregir la hipocitraturia y el pH urinario bajo, y reducir marcadamente la recurrencia de la litiasis renal.

  14. Automatic quantitative renal scintigraphy

    International Nuclear Information System (INIS)

    Valeyre, J.; Deltour, G.; Delisle, M.J.; Bouchard, A.

    1976-01-01

    Renal scintigraphy data may be analyzed automatically by the use of a processing system coupled to an Anger camera (TRIDAC-MULTI 8 or CINE 200). The computing sequence is as follows: normalization of the images; background noise subtraction on both images; evaluation of mercury 197 uptake by the liver and spleen; calculation of the activity fractions on each kidney with respect to the injected dose, taking into account the kidney depth and the results referred to normal values; edition of the results. Automation minimizes the scattering parameters and by its simplification is a great asset in routine work [fr

  15. Imaging of renal metastases

    International Nuclear Information System (INIS)

    Bruneton, J.N.; Normand, F.; Balu-Maestro, C.; Rogopoulos, A.; Drouillard, J.; Laurent, F.

    1988-01-01

    Metastases are the most frequent malignant tumors of the kidney, but these lesions are of late onset in neoplastic disease. The 19 cases reported here were all investigated with various imaging techniques (CT 12 cases, ultrasonography 12 cases, urography 8 cases, angiography 2 cases, MRI 1 case). The most common primary malignancies were lung cancer, melanoma and cancer of the controlateral kidney. In this series, 8 of the lesions were solitary, and 9 were unilateral. Tumor vascularity was evaluated in 15 cases: 14 of these lesions were hypovascular. The differential diagnosis includes small cysts, lymphoma, bilateral renal cancer, multiple small abscesses and multiple small infarcts [fr

  16. Renal involvement in behcet's disease

    International Nuclear Information System (INIS)

    Ardalan, Mohammad Reza; Noshad, Hamid; Sadreddini, Shahram; Ebrahimi, Aliasghar; Molaeefard, Mahsheed; Somi, Mohammad Hossein; Shoja, Mohammadali Mohajel

    2009-01-01

    There are conflicting reports about the renal involvement in Behcet's disease (BD). In this study we aimed to study the frequency and type of renal involvement in a group of patients with BD in Azerbaijan province that is one of the prevalent areas of BD in Iran. All cases of BD were prospectively followed between June 2004 and January 2007, and evaluated for renal dys-function (serum creatinine > 1.7 mg/dL), glomerular hematuria and proteinuria. Those patients with proteinuria > 500 mg/day and serum creatinine level > 2 mg/dL, underwent renal biopsy. From a total number of 100 patients, six patients (6%) had obvious renal involvements. Four patients had glomerular hematuria and proteinuria. Renal biopsy in two of them revealed measangial proliferative glumerulonephritis with IgA deposit in one of them and membranoproliferative glumerolonephritis in another one. Two remaining patients had serum creatinine > 2 mg/dL without any hematuria or proteinuria. Serologic study for viral agents and collagen vascular disease were negative in all patients with renal involvements. In conclusion, renal involvement in BD is not infrequent, although in most cases it is mild in nature and may be missed. (author)

  17. Leiomyosarcoma of the renal vein

    Directory of Open Access Journals (Sweden)

    Lemos Gustavo C.

    2003-01-01

    Full Text Available Leiomyosarcoma of the renal vein is a rare tumor of complex diagnosis. We presented a case of renal vein leiomyosarcoma detected in a routine study. The primary treatment was complete surgical removal of the mass. In cases where surgical removal is not possible the prognosis is poor, with high rates of local recurrence and distant spread.

  18. Ultrasonography in chronic renal failure

    International Nuclear Information System (INIS)

    Buturovic-Ponikvar, Jadranka; Visnar-Perovic, Alenka

    2003-01-01

    Many chronic renal diseases lead to the final common state of decrease in renal size, parenchymal atrophy, sclerosis and fibrosis. The ultrasound image show a smaller kidney, thinning of the parenchyma and its hyperechogenicity (reflecting sclerosis and fibrosis). The frequency of renal cysts increases with the progression of the disease. Ultrasound generally does not allow for the exact diagnosis of an underlying chronic disease (renal biopsy is usually required), but it can help to determine an irreversible disease, assess prognosis and avoid unnecessary diagnostic or therapeutic procedures. The main exception in which the ultrasound image does not show a smaller kidney with parenchymal atrophy is diabetic nephropathy, the leading cause of chronic and end-stage renal failure in developed countries in recent years. In this case, both renal size and parenchymal thickness are preserved until end-stage renal failure. Doppler study of intrarenal vessels can provide additional information about microvascular and parenchymal lesions, which is helpful in deciding for or against therapeutic intervention and timely planning for optimal renal replacement therapy option

  19. Acute renal failure after rifampicin

    Directory of Open Access Journals (Sweden)

    Adriana Weinberg

    1984-12-01

    Full Text Available A patient with miliary tuberculosis and a chronic urogenital focus is described, who had a borderline renal function at diagnosis and developed overt renal failure upon daily treatment with rifampin (RMP, isoniazid (INH and ethambutol (EMB. This is the first Brazilian report of BMP induced renal damage. A renal biopsy taken on the third day of oliguria showed recent tubular necrosis with acute interstitial inflammation and granuloma formation. The aspect of the granulomatous lesion hightly suggested drug etiology because of the lack of palisading, high incidence of neutrophils and absence of facid-fast bacilli. This is the first presentation of an acute granulomatous interstitial nephritis probably due to RMP. Furthermore the pathogenesis of the renal damage caused by tuberculosis and RMP are discussed.

  20. Fetal programming of renal function.

    Science.gov (United States)

    Dötsch, Jörg; Plank, Christian; Amann, Kerstin

    2012-04-01

    Results from large epidemiological studies suggest a clear relation between low birth weight and adverse renal outcome evident as early as during childhood. Such adverse outcomes may include glomerular disease, hypertension, and renal failure and contribute to a phenomenon called fetal programming. Other factors potentially leading to an adverse renal outcome following fetal programming are maternal diabetes mellitus, smoking, salt overload, and use of glucocorticoids during pregnancy. However, clinical data on the latter are scarce. Here, we discuss potential underlying mechanisms of fetal programming, including reduced nephron number via diminished nephrogenesis and other renal (e.g., via the intrarenal renin-angiotensin-aldosterone system) and non-renal (e.g., changes in endothelial function) alterations. It appears likely that the outcomes of fetal programming may be influenced or modified postnatally, for example, by the amount of nutrients given at critical times.

  1. Renal manifestations of primary hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Anurag Ranjan Lila

    2012-01-01

    Full Text Available Primary hyperparathyroidism (PHPT is associated with nephrolithiasis and nephrocalcinosis. Hypercalciuria is one of the multiple factors that is implicated in the complex pathophysiology of stone formation. The presence of a renal stone (symptomatic or asymptomatic categorizes PHPT as symptomatic and is an indication for parathyroid adenomectomy. Progression of nephrocalcinosis is largely reversible after successful surgery, but the residual risk persists. PHPT is also associated with declining renal function. In case of asymptomatic mild PHPT, annual renal functional assessment is advised. Guidelines suggest that an estimated glomerular filtration rate (eGFR < 60 ml / minute / 1.73 m 2 is an indication for parathyroid adenomectomy. This article discusses how to monitor and manage renal stones and other related renal parameters in case of PHPT.

  2. Renal replacement therapy in Europe

    DEFF Research Database (Denmark)

    Pippias, Maria; Stel, Vianda S; Abad Diez, José Maria

    2015-01-01

    BACKGROUND: This article summarizes the 2012 European Renal Association-European Dialysis and Transplant Association Registry Annual Report (available at www.era-edta-reg.org) with a specific focus on older patients (defined as ≥65 years). METHODS: Data provided by 45 national or regional renal...... disease (ESRD) receiving renal replacement therapy (RRT) and renal transplantation rates for 2012 are presented. RESULTS: In 2012, the overall unadjusted incidence rate of patients with ESRD receiving RRT was 109.6 per million population (pmp) (n = 69 035), ranging from 219.9 pmp in Portugal to 24.2 pmp...... to 32% between countries. The overall renal transplantation rate in 2012 was 28.3 pmp (n = 15 673), with the highest rate seen in the Spanish region of Catalonia. The proportion of patients ≥65 years receiving a transplant ranged from 0 to 35%. Five-year adjusted survival for all RRT patients was 59...

  3. Magnification renal arteriography

    International Nuclear Information System (INIS)

    Carr, D.; Davidson, J.K.; McMillan, M.; Davison, M.

    1979-01-01

    Magnification selective renal arteriograms were performed on 24 patients, 12 of whom were hypertensive, and compared with non-magnification arteriograms by two observers independently. The magnification angiograms were performed on a Siemens Microfocus Bi 125/3/50 RG tube with a 0.1 mm focal spot. Of the 24 patients examined, information crucial to the diagnosis was found only on the magnification films in three patients (12.5%). Extra information compared with the non-magnification films was found in the magnification films in 12 patients (50%). No additional information was discovered in the remaining nine patients (37.5%). The magnification angiograms enabled the interlobular vessels to be visualised - this was not possible on the non-magnification films. Against the additional information gained must be weighed the disadvantages of magnification arteriography which include increased radiation dose and lengthening of procedure time plus additional injections of contrast. In conclusion, there is a place for magnification renal arteriography and the advantages seem to outweigh the disadvantages. (author)

  4. Renal complications of anaesthesia.

    Science.gov (United States)

    McKinlay, J; Tyson, E; Forni, L G

    2018-01-01

    Peri-operative acute kidney injury is common, accounting for 30-40% of all in-hospital cases of acute kidney injury. It is associated with clinically significant morbidity and mortality even with what was hitherto regarded as relatively trivial increases in serum creatinine, and carries over a 12-fold relative risk of death following major abdominal surgery. Comorbid conditions such as diabetes, hypertension, liver disease and particularly pre-existing chronic kidney disease, as well as the type and urgency of surgery, are major risk factors for the development of postoperative acute kidney injury. As yet, there are no specific treatment options for the injured kidney, although there are several modifiable risk factors of which the anaesthetist should be aware. As well as the avoidance of potential nephrotoxins and appropriate volume balance, optimal anaesthetic management should aim to reduce the risk of postoperative renal complications. This may include careful ventilatory management and blood pressure control, as well as appropriate analgesic strategies. The choice of anaesthetic agent may also influence renal outcomes. Rather than concentrate on the classical management of acute kidney injury, this review focuses on the potential development of acute kidney injury peri-operatively, and the means by which this may be ameliorated. © 2018 The Association of Anaesthetists of Great Britain and Ireland.

  5. Angiography in renal tuberculosis

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Doo Suk [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1974-10-15

    Angiographies on forty cases of renal tuberculosis performed at the National Medical Center during a period 1960 through 1970 were reviewed. Abdominal angiography was performed via the femoral route. Some were followed by selective nephroangiography. All patients were subjected to urographyior to angiography. The results of X-ray findings in the forty cases with renal tuberculosis were follows. 1. The age varied 18 to 57 years, average 30.5 years. Twenty one patients were male, and nineteen were female. 2. The right kidney was involved in 17 cases and the left in 15 cases. Both kidneys were involved in 8 cases. 3. Urographic examination revealed pathologic changes in all patients. 4. Focal destruction in the collecting system was the most common finding in the urography of 16 patients. 5. A varying degree of hydronephrosis was present in 15 patients, of whom nine had complained of palpable mass due to hydronephrosis. 6. In the 7 patients with extensive destruction there was no observable excretion contrast medium from the diseased kidney. 7. Angiographic examination was normal in 6 of the 40 patients. 8. Decreased vascularity in the subsegmental or smaller arteries of the affected kidney was the most frequent finding, being found in 34 patients. 9. Occlusion or abrupt termination of the subsegmental arteries was present in 4 patients. 10. Eighteen of the patients had signs of an expansive process within the cavity, the vessels being displaced and stretched around the lesions.

  6. Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis

    Directory of Open Access Journals (Sweden)

    Binghui Zeng

    2017-10-01

    Full Text Available Abstract: Both X-linked hypohidrotic ectodermal dysplasia (XLHED and non-syndromic tooth agenesis (NSTA result in symptoms of congenital tooth loss. This study investigated genetic causes in two families with XLHED and four families with NSTA. We screened for mutations of WNT10A, EDA, EDAR, EDARADD, PAX9, MSX1, AXIN2, LRP6, and WNT10B through Sanger sequencing. Whole exome sequencing was performed for the proband of NSTA Family 4. Novel mutation c.1051G>T (p.Val351Phe and the known mutation c.467G>A (p.Arg156His of Ectodysplasin A (EDA were identified in families with XLHED. Novel EDA receptor (EDAR mutation c.73C>T (p.Arg25*, known EDA mutation c.491A>C (p.Glu164Ala, and known Wnt family member 10A (WNT10A mutations c.511C>T (p.Arg171Cys and c.742C>T (p.Arg248* were identified in families with NSTA. The novel EDA and EDAR mutations were predicted as being pathogenic through bioinformatics analyses and structural modeling. Two variants of WNT10A, c.374G>A (p.Arg125Lys and c.125A>G (p.Asn42Ser, were found in patients with NSTA. The two WNT10A variants were predicted to affect the splicing of message RNA, but minigene experiments showed normal splicing of mutated minigenes. This study uncovered the genetic foundations with respect to six families with XLHED or NSTA. We identified six mutations, of which two were novel mutations of EDA and EDAR. This is the first report of a nonsense EDAR mutation leading to NSTA.

  7. A Neuropsychological Profile for Agenesis of the Corpus Callosum? Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children.

    Science.gov (United States)

    Siffredi, Vanessa; Anderson, Vicki; McIlroy, Alissandra; Wood, Amanda G; Leventer, Richard J; Spencer-Smith, Megan M

    2018-05-01

    Agenesis of the corpus callosum (AgCC), characterized by developmental absence of the corpus callosum, is one of the most common congenital brain malformations. To date, there are limited data on the neuropsychological consequences of AgCC and factors that modulate different outcomes, especially in children. This study aimed to describe general intellectual, academic, executive, social and behavioral functioning in a cohort of school-aged children presenting for clinical services to a hospital and diagnosed with AgCC. The influences of age, social risk and neurological factors were examined. Twenty-eight school-aged children (8 to 17 years) diagnosed with AgCC completed tests of general intelligence (IQ) and academic functioning. Executive, social and behavioral functioning in daily life, and social risk, were estimated from parent and teacher rated questionnaires. MRI findings reviewed by a pediatric neurologist confirmed diagnosis and identified brain characteristics. Clinical details including the presence of epilepsy and diagnosed genetic condition were obtained from medical records. In our cohort, ~50% of children experienced general intellectual, academic, executive, social and/or behavioral difficulties and ~20% were functioning at a level comparable to typically developing children. Social risk was important for understanding variability in neuropsychological outcomes. Brain anomalies and complete AgCC were associated with lower mathematics performance and poorer executive functioning. This is the first comprehensive report of general intellectual, academic, executive social and behavioral consequences of AgCC in school-aged children. The findings have important clinical implications, suggesting that support to families and targeted intervention could promote positive neuropsychological functioning in children with AgCC who come to clinical attention. (JINS, 2018, 24, 445-455).

  8. Sequelae in male rabbits following developmental exposure to p,p'-DDT or a mixture of p,p'-DDT and vinclozolin: cryptorchidism, germ cell atypia, and sexual dysfunction.

    Science.gov (United States)

    Veeramachaneni, D N R; Palmer, J S; Amann, R P; Pau, K-Y F

    2007-01-01

    Rabbit does (7-9 per group) were treated daily per orum from gestation day 15 through post-natal week 4 to provide per kg body wt 25 micaromol (low) or 250 micromol (high) p,p'-DDT or a mixture of DDT and vinclozolin (12.5 and 125 micromol each). Developmental as well as post-pubertal reproductive sequelae of male progeny were studied. Testicular descent in some pups was impaired by DDT. Serum LH or testosterone was not affected. FSH was lower in mixture- but not in DDT-exposed rabbits. Lack of sexual interest, penile erection and ejaculation were observed in some mixture rabbits. Sperm counts were unaffected, but morphologically normal spermatozoa were fewer; nuclear and acrosomal morphogenesis was disrupted. Atypical germ cells resembling carcinoma in situ were found. Also considering data for vinclozolin [Veeramachaneni DNR, Palmer JS, Amann RP, Kane CM, Higuchi TT, Pau K-YF. Disruption of sexual function, FSH secretion, and spermiogenesis in rabbits following developmental exposure to vinclozolin, a fungicide. Reproduction 2006;131:805-16], we concluded that DDT causes cryptorchidism and germ cell atypia, vinclozolin permanently disrupts FSH secretion and sexual function, and the mixture causes the full spectrum of dysgenesis.

  9. Prevalência de agenesia do osso sesamóide da articulação metacarpofalangeana, em brasileiros adultos Agenesis prevalence of the adductor sesamoid of the thumb in Brazilians adults

    Directory of Open Access Journals (Sweden)

    Renata Rodrigues de Almeida-Pedrin

    2008-08-01

    Full Text Available OBJETIVO: diante da importância do sesamóide no emprego de métodos simplificados para a determinação da maturidade esquelética, julgamos necessário um estudo, em brasileiros adultos, para verificar a porcentagem de presença ou ausência deste ossículo. METODOLOGIA: a amostra constitui-se de 500 indivíduos brasileiros, com idade média de 22,5 (18-33 anos, de ambos os gêneros. A presença ou ausência do osso sesamóide foi verificada mediante a interpretação de radiografias periapicais, tomadas da articulação metacarpofalangena dos dois polegares de cada indivíduo da pesquisa. RESULTADOS E CONCLUSÃO: os resultados demonstraram que o osso sesamóide da articulação metacarpofalangeana esteve presente em todos os indivíduos (100% da amostra, concluindo, desta forma, que não houve agenesia deste osso nesta população avaliada.AIM: the purpose of this study was to verify the percentage of agenesis of sesamoid bone in a Brazilian adult population. METHODS: the sample consisted of 329 females and 171 males, with mean age of 22.5 (range from 18 to 33 years. The presence or agenesis of sesamoid bone was evaluated through periapical radiographs taken from the metacarpophalangeal joint of the thumb (left and right of each subject. RESULTS AND CONCLUSION: The results evidenced that the sesamoid bone was present in 100% of the sample, showing that was not found agenesis in these population.

  10. Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae Meningite recorrente em um paciente com meningocele sacral anterior e agenesia sacral e coccigea

    Directory of Open Access Journals (Sweden)

    Carolina A. R. Funayama

    1995-12-01

    Full Text Available A rare case of recurrent meningitis due to congenital anterior sacral meningocele and agenesis of the sacral and coccygeal vertebrae is described. An autosomal dominant inheritance is demonstrated for lower cord malformation, and environmental factors (chromic acid or fumes are discussed.Um caso raro de meningite recorrente devido a meningocele sacral anterior e agenesia das vértebras sacras coccígeas é descrito. Herança autossômica dominante para malformação medular caudal é demonstrada e, possíveis fatores ambientais (ligados ao cromo, são discutidos.

  11. Effect of feeding graded doses of Citrinin on clinical and teratology in female Wistar rats.

    Science.gov (United States)

    Singh, N D; Sharma, A K; Patil, R D; Rahman, S; Leishangthem, G D; Kumar, M

    2014-02-01

    Citrinin is the one of the well-known mycotoxins, which is possibly spread all over the world. The graded doses of citrinin (1, 3 and 5 ppm CIT in feed) in female Wistar rats 10 weeks prior to mating, during mating and during organogenesis resulted in resorptions and post implantation losses, decreased fetal body weights and crown-rump lengths in fetuses of all groups. Various developmental anomalies recorded in fetuses of treated rats included gross (wrist drop, curled tail, stretched forelimb, subcutaneous haematoma), skeletal (incomplete ossification of skull bones, incomplete fusion of vertebral bodies, complete and partial agenesis of sternaebrae, metacarpals, metatarsals and phalanges, fused ribs and swing out ribs) and visceral (internal and external hydrocephalus, cerebellar hypoplasia, microphthalmia, roundening of heart, contracted kidneys, dilated renal pelvis and cryptorchid testes). The results suggest that CIT has adverse effects on fetal development which may be due to the longer bioavailability of citrinin in the animals.

  12. RENAL DAMAGE WITH MALIGNANT NEOPLASMS

    Directory of Open Access Journals (Sweden)

    I. B. Kolina

    2015-01-01

    Full Text Available The relationship between renal damage and malignant neoplasms is one of the most actual problems of the medicine of internal diseases. Very often, exactly availability of renal damage determines the forecast of cancer patients. The range of renal pathologies associated with tumors is unusually wide: from the mechanical effect of the tumor or metastases on the kidneys and/or the urinary tract and paraneoplastic manifestations in the form of nephritis or amyloidosis to nephropathies induced with drugs or tumor lysis, etc. Thrombotic complications that develop as a result of exposure to tumor effects, side effects of certain drugs or irradiation also play an important role in the development of the kidney damage. The most frequent variants of renal damage observed in the practice of medical internists (therapists, urologists, surgeons, etc., as well as methods of diagnosis and treatment approaches are described in the article. Timely and successful prevention and treatment of tumor-associated nephropathies give hope for retaining renal functions, therefore, a higher life standard after completion of anti-tumor therapy. Even a shortterm episode of acute renal damage suffered by a cancer patient must be accompanied with relevant examination and treatment. In the caseof transformation of acute renal damage into the chronic kidney disease, such patients need systematic and weighted renoprotective therapy and correct dosing of nephrotoxic drugs.

  13. Renal acidification defects in medullary sponge kidney

    DEFF Research Database (Denmark)

    Osther, P J; Hansen, A B; Røhl, H F

    1988-01-01

    Thirteen patients with medullary sponge kidney underwent a short ammonium chloride loading test to investigate their renal acidification capacity. All but 1 presented with a history of recurrent renal calculi and showed bilateral widespread renal medullary calcification on X-ray examination. Nine...... of renal calculi in medullary sponge kidney, have considerable therapeutic implications....

  14. Cólica renal

    OpenAIRE

    Pinheiro, JC

    1999-01-01

    Os aspectos práticos de actuação na cólica renal são abordados nesta apresentação, que o médico de família, a quem os doentes primeiro recorrem, deve conhecer em pormenor.É referida a incidência da afecção num serviço de urgência dum grande hospital e descreve-se, ainda que sumariamente, a fisiopatologia da dor, o quadro clínico mais frequente e a conveniente actuação terapêutica para o imediato alívio da dor intensa que estes doentes apresentam. Nas conclusões sublinha-se que a cólica ...

  15. Mature Cystic Renal Teratoma

    International Nuclear Information System (INIS)

    Yavuz, Alpaslan; Ceken, Kagan; Alimoglu, Emel; Akkaya, Bahar

    2014-01-01

    Teratomas are rare germline tumors that originate from one or more embryonic germ cell layers. Teratoma of the kidney is extremely rare, and less than 30 cases of primary intrarenal teratomas have been published to date. We report the main radiologic features of an unusual case of mature cystic teratoma arising from the left kidney in a two-year-old boy. A left-sided abdominal mass was detected on physical examination and B-Mod Ultrasound (US) examination revealed a heterogeneous mass with central cystic component. Computed tomography (CT) demonstrated a lobulated, heterogeneous, hypodense mass extending craniocaudally from the splenic hilum to the level of the left iliac fossa. Nephrectomy was performed and a large, fatty mass arising from the left kidney was excised. The final pathologic diagnosis was confirmed as cystic renal teratoma

  16. Hyperparathyroidism of Renal Disease.

    Science.gov (United States)

    Yuen, Noah K; Ananthakrishnan, Shubha; Campbell, Michael J

    2016-01-01

    Renal hyperparathyroidism (rHPT) is a common complication of chronic kidney disease characterized by elevated parathyroid hormone levels secondary to derangements in the homeostasis of calcium, phosphate, and vitamin D. Patients with rHPT experience increased rates of cardiovascular problems and bone disease. The Kidney Disease: Improving Global Outcomes guidelines recommend that screening and management of rHPT be initiated for all patients with chronic kidney disease stage 3 (estimated glomerular filtration rate, < 60 mL/min/1.73 m(2)). Since the 1990s, improving medical management with vitamin D analogs, phosphate binders, and calcimimetic drugs has expanded the treatment options for patients with rHPT, but some patients still require a parathyroidectomy to mitigate the sequelae of this challenging disease.

  17. Lung and renal transplantation

    Directory of Open Access Journals (Sweden)

    Patrícia Caetano Mota

    2009-11-01

    Full Text Available Renal transplantation is the most common type of solid organ transplantation and kidney transplant recipients are susceptible to pulmonary complications of immunosuppressive therapy, which are a diagnostic and therapeutic challenge. Aim: To evaluate patients admitted to the Renal Transplant Unit (RTU of Hospital de S. João with respiratory disease. Subject and methods: We performed a retrospective study of all patients admitted to RTU with respiratory disease during a period of 12 months. Results: Thirty-six patients were included. Mean age 55.2 ( ± 13.4 years; 61.1% male. Immunosuppressive agents most frequently used were prednisolone and mycophenolate mofetil associated with ciclosporin (38.9% or tacrolimus (22.2% or rapamycin (13.9%. Thirty-one patients (86.1% presented infectious respiratory disease. In this group the main diagnoses were 23 (74.2% pneumonias, 5 (16.1% opportunistic infections, 2 (6.5% tracheobronchitis, and 1 case (3.2% of lung abscesses. Microbiological agent was identified in 7 cases (22.6%. Five patients (13.9% presented rapamycin-induced lung disease. Fibreoptic bronchoscopy was performed in 15 patients (41.7%, diagnostic in 10 cases (66.7%. Mean hospital stay was 17.1 ( ± 18.5 days and no related death was observed. Conclusion: Respiratory infections were the main complications in these patients. Drug-induced lung disease implies recognition of its features and a rigorous monitoring of drug serum levels. A more invasive diagnostic approach was determinant in the choice of an early and more specific therapy. Resumo: O transplante renal é o transplante de órgãos sólidos mais frequente, sendo os transplantados renais alvo de complicações pulmonares inerentes à própria terapêutica imunossupressora, as quais constituem, por vezes, um desafio diagnóstico e terapêutico. Objectivo: Avaliar os doentes admitidos na Unidade de Transplante Renal (UTR do Hospital de S. João com o diagnóstico de patologia respirat

  18. Characterization of complex renal cysts

    DEFF Research Database (Denmark)

    Graumann, Ole; Osther, Susanne Sloth; Osther, Palle Jörn Sloth

    2010-01-01

    Abstract Objective. Complex renal cysts represent a major clinical problem, since it is often difficult to exclude malignancy. The Bosniak classification system, based on computed tomography (CT), is widely used to categorize cystic renal lesions. The aim of this study was to evaluate critically...... available data on the Bosniak classification. Material and methods. All publications from an Entrez Pubmed search were reviewed, focusing on clinical applicability and the use of imaging modalities other than CT to categorize complex renal cysts. Results. Fifteen retrospective studies were found. Most...

  19. Renal rickets-practical approach

    Science.gov (United States)

    Sahay, Manisha; Sahay, Rakesh

    2013-01-01

    Rickets/osteomalacia is an important problem in a tropical country. Many cases are due to poor vitamin D intake or calcium deficient diets and can be corrected by administration of calcium and vitamin D. However, some cases are refractory to vitamin D therapy and are related to renal defects. These include rickets of renal tubular acidosis (RTA), hypophosphatemic rickets, and vitamin D dependent rickets (VDDR). The latter is due to impaired action of 1α-hydroxylase in renal tubule. These varieties need proper diagnosis and specific treatment. PMID:24251212

  20. Renal epithelioid angiomyolipoma presenting clinically as renal cell ...

    African Journals Online (AJOL)

    M.S. Johnson

    a Detroit Medical Center, Michigan State University School of Osteopathic Medicine, Detroit, MI, USA .... Immunohistochemically, the tumor cells stained strongly positive .... [10] Cao Q, Liu F, Xiao P, Tian X, Li B, Li Z. Coexistence of renal.

  1. Diagnosis of renal disease in rabbits.

    Science.gov (United States)

    Harcourt-Brown, Frances Margaret

    2013-01-01

    There are differences in renal anatomy and physiology between rabbits and other domestic species. Neurogenic renal ischemia occurs readily. Reversible prerenal azotemia may be seen in conjunction with gut stasis. Potentially fatal acute renal failure may be due to structural kidney damage or post-renal disease. Chronic renal failure is often associated with encephalitozoonosis. Affected rabbits cannot vomit and often eat well. Weight loss, lethargy, and cachexia are common clinical signs. Polydypsia/polyuria may be present. Derangements in calcium and phosphorus metabolism are features of renal disease. Radiography is always indicated. Urolithiasis, osteosclerosis, aortic and renal calcification are easily seen on radiographs. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. Renal vein oxygen saturation in renal artery stenosis

    DEFF Research Database (Denmark)

    Nielsen, K; Rehling, M; Henriksen, Jens Henrik Sahl

    1992-01-01

    Renal vein oxygen-saturation was measured in 56 patients with arterial hypertension and unilateral stenosis or occlusion of the renal artery. Oxygen-saturation in blood from the ischaemic kidney (84.4%, range 73-93%) was significantly higher than that from the 'normal' contralateral kidney (81...... than its blood flow. This is probably due to decreased filtration fraction and filtered sodium with subsequent reduction in absolute tubular re-absorption of sodium ions....

  3. CUTANEOUS MANIFESTATIONS OF CHRONIC RENAL FAILURE AND RENAL TRANSPLANTATION

    OpenAIRE

    R. Suganya Gnanadeepam; S. Kayalvizhi Money

    2017-01-01

    BACKGROUND The kidney and the skin are the two large networks of the body with abundant blood supply associated with various cutaneous manifestations. This study aims to detect the various cutaneous manifestations and its incidence in patients with chronic renal failure and renal transplantation. MATERIALS AND METHODS This study was done for a period of 1 year from January 2016 to December 2016 at Nephrology OPD ward and Medicine wards, Government KAPV Medical College Hos...

  4. Relationship between renal cortex and parenchyma thickness and renal function: study with CT measurement

    International Nuclear Information System (INIS)

    Xu Yufeng; Tang Guangjian; Jiang Xuexiang

    2006-01-01

    Objective: To study the relationship between renal morphology and renal function, and to assess the value of CT as a criterion to grade renal function. Methods: Enhancement CT were performed in 89 patients with no local renal disease whose split renal glomerular filtration rates (GFR) were measured by renal dynamic imaging with 99 Tc m -DTPA. The 178 kidneys were divided into normal renal function, mild and severe renal impairment groups according to renal function. Differences between three groups respect to the mean thickness of renal cortex and parenchyma were assessed by ANOVA. Using Pearson's correlation test, the correlation between the renal cortex, parenchyma thicknesses and renal GFR were examined. The value of CT in predicting renal function was assessed by using ROC analysis. Results: The renal cortex thicknesses of normal renal function, mild and severe renal impairment groups were (5.9±1.1), (4.6± 1.1), and (3.3±1.0) mm respectively, and the renal parenchyma thicknesses were (26.3±4.2), (21.3±4.6), (16.2±4.6) mm. There were significant differences of renal cortex, parenchyma thicknesses between 3 groups (cortex F=54.78, P<0.01; parenehyma F=43.90, P<0.01). The thicknesses of renal cortex (r=0.752, P<0.01), parenchyma (r=0.738, P<0.01) had positive linear correlation with renal function. ROC analysis of the renal cortex thicknesses measured by CT in predicting mild and severe renal impairment showed that the Az was 0.860 and 0.905 respectively, whereas that of parenchyma was 0.868 and 0.884. Conclusion: The thicknesses of renal cortex, parenchyma measured by CT can reflect renal function. CT was a supplementary method to assess renal function. (authors)

  5. The Effects of Renal Denervation on Renal Hemodynamics and Renal Vasculature in a Porcine Model.

    Directory of Open Access Journals (Sweden)

    Willemien L Verloop

    Full Text Available Recently, the efficacy of renal denervation (RDN has been debated. It is discussed whether RDN is able to adequately target the renal nerves.We aimed to investigate how effective RDN was by means of functional hemodynamic measurements and nerve damage on histology.We performed hemodynamic measurements in both renal arteries of healthy pigs using a Doppler flow and pressure wire. Subsequently unilateral denervation was performed, followed by repeated bilateral hemodynamic measurements. Pigs were terminated directly after RDN or were followed for 3 weeks or 3 months after the procedure. After termination, both treated and control arteries were prepared for histology to evaluate vascular damage and nerve damage. Directly after RDN, resting renal blood flow tended to increase by 29±67% (P = 0.01. In contrast, renal resistance reserve increased from 1.74 (1.28 to 1.88 (1.17 (P = 0.02 during follow-up. Vascular histopathology showed that most nerves around the treated arteries were located outside the lesion areas (8±7 out of 55±25 (14% nerves per pig were observed within a lesion area. Subsequently, a correlation was noted between a more impaired adventitia and a reduction in renal resistance reserve (β: -0.33; P = 0.05 at three weeks of follow-up.Only a small minority of renal nerves was targeted after RDN. Furthermore, more severe adventitial damage was related to a reduction in renal resistance in the treated arteries at follow-up. These hemodynamic and histological observations may indicate that RDN did not sufficiently target the renal nerves. Potentially, this may explain the significant spread in the response after RDN.

  6. The Effects of Renal Denervation on Renal Hemodynamics and Renal Vasculature in a Porcine Model

    Science.gov (United States)

    Verloop, Willemien L.; Hubens, Lisette E. G.; Spiering, Wilko; Doevendans, Pieter A.; Goldschmeding, Roel; Bleys, Ronald L. A. W.; Voskuil, Michiel

    2015-01-01

    Rationale Recently, the efficacy of renal denervation (RDN) has been debated. It is discussed whether RDN is able to adequately target the renal nerves. Objective We aimed to investigate how effective RDN was by means of functional hemodynamic measurements and nerve damage on histology. Methods and Results We performed hemodynamic measurements in both renal arteries of healthy pigs using a Doppler flow and pressure wire. Subsequently unilateral denervation was performed, followed by repeated bilateral hemodynamic measurements. Pigs were terminated directly after RDN or were followed for 3 weeks or 3 months after the procedure. After termination, both treated and control arteries were prepared for histology to evaluate vascular damage and nerve damage. Directly after RDN, resting renal blood flow tended to increase by 29±67% (P = 0.01). In contrast, renal resistance reserve increased from 1.74 (1.28) to 1.88 (1.17) (P = 0.02) during follow-up. Vascular histopathology showed that most nerves around the treated arteries were located outside the lesion areas (8±7 out of 55±25 (14%) nerves per pig were observed within a lesion area). Subsequently, a correlation was noted between a more impaired adventitia and a reduction in renal resistance reserve (β: -0.33; P = 0.05) at three weeks of follow-up. Conclusion Only a small minority of renal nerves was targeted after RDN. Furthermore, more severe adventitial damage was related to a reduction in renal resistance in the treated arteries at follow-up. These hemodynamic and histological observations may indicate that RDN did not sufficiently target the renal nerves. Potentially, this may explain the significant spread in the response after RDN. PMID:26587981

  7. Transcatheter embolisation of renal angiomyolipoma.

    LENUS (Irish Health Repository)

    Leong, S

    2010-06-01

    Angiomyolipomas (AML) are rare benign renal tumours which are associated with aneurysms that can cause haemorrhage. Embolisation of AML greater than 4 cm with a variety of embolic agents is now the first-line treatment in these cases.

  8. Renal cell carcinoma in childhood

    International Nuclear Information System (INIS)

    Zanier, J.F.C.; Ramos, C.O.P.; Pereira, A.A.

    1990-01-01

    The authors present five cases of renal cell carcinoma in children, describing its aspects on excretory urography, ultra-sonography and computerized tomography. The clinical, pathological and radiological features are compared with those of the literature. (author)

  9. Antibiotic managment in renal failure.

    Science.gov (United States)

    Winter, R E

    1976-06-01

    This is a brief compilation of the work of many investigators. It includes facts about toxicity and recommendations about antibiotic management in patients with renal failure. As new data are accrued, changes in these recommendations will be necessary.

  10. Bone scintigraphy in renal osteodystrophy

    International Nuclear Information System (INIS)

    de Graaf, P.; Schicht, I.M.; Pauwels, E.K.J.; te Velde, J.; de Graeff, J.

    1978-01-01

    Bone scintigraphy with Tc-99m HEDP was performed in 30 patients on maintenance hemodialysis, and the results of quantitative analysis were compared wth those of a normal group. To permit this comparison, elevated background activity due to the absence of renal radiotracer excretion was reduced by hemodialysis to levels found in the normals. Histologic proof of renal osteodystrophy had been obtained in all patients. the incidence of radiographic abnormalities was 46%, whereas abnormal scans were found in 25 patients (83%); skeletal lesions were also more pronounced and detected earlier. However, even when the scans appeared normal, the quantitative analysis showed increased skeletal activity in all patients. The total skeletal activity proved to be a good index of the severity of renal osteodystrophy and appeared dependent on both osteomalacia and hyperparathyroidism. These findings show that bone scintigraphy is a sensitive method to detect skeletal involvement in renal osteodystrophy

  11. Prolonged Intermittent Renal Replacement Therapy.

    Science.gov (United States)

    Edrees, Fahad; Li, Tingting; Vijayan, Anitha

    2016-05-01

    Prolonged intermittent renal replacement therapy (PIRRT) is becoming an increasingly popular alternative to continuous renal replacement therapy in critically ill patients with acute kidney injury. There are significant practice variations in the provision of PIRRT across institutions, with respect to prescription, technology, and delivery of therapy. Clinical trials have generally demonstrated that PIRRT is non-inferior to continuous renal replacement therapy regarding patient outcomes. PIRRT offers cost-effective renal replacement therapy along with other advantages such as early patient mobilization and decreased nursing time. However, due to lack of standardization of the procedure, PIRRT still poses significant challenges, especially pertaining to appropriate drug dosing. Future guidelines and clinical trials should work toward developing consensus definitions for PIRRT and ensure optimal delivery of therapy. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  12. Mucormycosis (zygomycosis) of renal allograft

    Science.gov (United States)

    Gupta, Krishan L.; Joshi, Kusum; Kohli, Harbir S.; Jha, Vivekanand; Sakhuja, Vinay

    2012-01-01

    Fungal infection is relatively common among renal transplant recipients from developing countries. Mucormycosis, also known as zygomycosis, is one of the most serious fungal infections in these patients. The most common of presentation is rhino-cerebral. Isolated involvement of a renal allograft is very rare. A thorough search of literature and our medical records yielded a total of 24 cases with mucormycosis of the transplanted kidney. There was an association with cytomegalovirus (CMV) infection and anti-rejection treatment in these patients and most of these transplants were performed in the developing countries from unrelated donors. The outcome was very poor with an early mortality in 13 (54.5%) patients. Renal allograft mucormycosis is a relatively rare and potentially fatal complication following renal transplantation. Early diagnosis, graft nephrectomy and appropriate antifungal therapy may result in an improved prognosis for these patients. PMID:26069793

  13. Fibromuscular dysplasia of renal arteries

    International Nuclear Information System (INIS)

    Akhtar, N.; Ahmed, T.M.

    2007-01-01

    This case reports a young child having uncontrolled hypertension, resulting from bilateral renal artery stenosis due to fibromuscular dysplasia presenting with abdominal pain, headache and visual disturbance. Diagnostic features and management is discussed. (author)

  14. Cancer - renal pelvis or ureter

    Science.gov (United States)

    ... ureter; Kidney cancer - renal pelvis; Ureter cancer Images Kidney anatomy References National Cancer Institute website. Transitional cell cancer (kidney/ureter) treatment (PDQ) - health professional version. www.cancer. ...

  15. Radiological evaluation of renal transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Dorph, S [Herlev University Hospital, Copenhagen (Denmark). Dept. of Radiology

    1996-12-31

    Briefly discussed the nephrologic complications, episodes of rejection, acute tubular necrosis, cyclosporine, urologic complications, perirenal fluid collections, small asymptomatic hematomas, urinomas, abscesses, lymphocele, ureteral obstruction, cascular complications, imaging of the renal allograft, radionuclide imaging, ultrasonography, conventional radiography, cystograhy (8 refs.).

  16. Radiological evaluation of renal transplantation

    International Nuclear Information System (INIS)

    Dorph, S.

    1995-01-01

    Briefly discussed the nephrologic complications, episodes of rejection, acute tubular necrosis, cyclosporine, urologic complications, perirenal fluid collections, small asymptomatic hematomas, urinomas, abscesses, lymphocele, ureteral obstruction, cascular complications, imaging of the renal allograft, radionuclide imaging, ultrasonography, conventional radiography, cystograhy (8 refs.)

  17. Inflammation in renal atherosclerotic disease.

    Science.gov (United States)

    Udani, Suneel M; Dieter, Robert S

    2008-07-01

    The study of renal atherosclerotic disease has conventionally focused on the diagnosis and management of renal artery stenosis. With the increased understanding of atherosclerosis as a systemic inflammatory process, there has been increased interest in vascular biology at the microvasculature level. While different organ beds share some features, the inflammation and injury in the microvasculature of the kidney has unique elements as well. Understanding of the pathogenesis yields a better understanding of the clinical manifestations of renal atherosclerotic disease, which can be very subtle. Furthermore, identifying the molecular mechanisms responsible for the progression of kidney damage can also direct clinicians and scientists toward targeted therapies. Existing therapies used to treat atherosclerotic disease in other vascular beds may also play a role in the treatment of renal atherosclerotic disease.

  18. Renal Ammonia Metabolism and Transport

    Science.gov (United States)

    Weiner, I. David; Verlander, Jill W.

    2015-01-01

    Renal ammonia metabolism and transport mediates a central role in acid-base homeostasis. In contrast to most renal solutes, the majority of renal ammonia excretion derives from intrarenal production, not from glomerular filtration. Renal ammoniagenesis predominantly results from glutamine metabolism, which produces 2 NH4+ and 2 HCO3− for each glutamine metabolized. The proximal tubule is the primary site for ammoniagenesis, but there is evidence for ammoniagenesis by most renal epithelial cells. Ammonia produced in the kidney is either excreted into the urine or returned to the systemic circulation through the renal veins. Ammonia excreted in the urine promotes acid excretion; ammonia returned to the systemic circulation is metabolized in the liver in a HCO3−-consuming process, resulting in no net benefit to acid-base homeostasis. Highly regulated ammonia transport by renal epithelial cells determines the proportion of ammonia excreted in the urine versus returned to the systemic circulation. The traditional paradigm of ammonia transport involving passive NH3 diffusion, protonation in the lumen and NH4+ trapping due to an inability to cross plasma membranes is being replaced by the recognition of limited plasma membrane NH3 permeability in combination with the presence of specific NH3-transporting and NH4+-transporting proteins in specific renal epithelial cells. Ammonia production and transport are regulated by a variety of factors, including extracellular pH and K+, and by several hormones, such as mineralocorticoids, glucocorticoids and angiotensin II. This coordinated process of regulated ammonia production and transport is critical for the effective maintenance of acid-base homeostasis. PMID:23720285

  19. Novel genes in renal aging

    OpenAIRE

    Noordmans, Gerda Anke

    2015-01-01

    Renal aging is characterized by structural changes and functional decline. These changes make the elderly more vulnerable to chronic kidney disease, hypertension, and cardiovascular disease. Furthermore, they also make it more difficult to cope with stress factors, such as dehydration, toxicity, and obstruction. These stress factors can lead to acute kidney injury and reduced recovery from acute kidney injury and may result in chronic kidney disease or even end-stage renal disease. The rate o...

  20. Parasites and chronic renal failure

    OpenAIRE

    Mohammadi Manesh, Reza; Hosseini Safa, Ahmad; Sharafi, Seyedeh Maryam; Jafari, Rasool; Bahadoran, Mehran; Yousefi, Morteza; Nasri, Hamid; Yousofi Darani, Hossein

    2014-01-01

    Suppression of the human immune system results in an increase in susceptibility to infection by various infectious agents. Conditions such as AIDS, organ transplantation and chronic renal insufficiency (CRI) are the most important cause of insufficient immune response against infections. Long term renal disorders result in uremia, which can suppress human immune system. Parasitic infections are one of the most important factors indicating the public health problems of the societies. These inf...

  1. Stenting of the right ventricular outflow tract after thrombosis of the modified Blalock-Taussig shunt in a 8 month old infant with tetralogy of Fallot and right pulmonary artery agenesis

    Directory of Open Access Journals (Sweden)

    I. A. Soynov

    2017-01-01

    Full Text Available Pulmonary artery agenesis combined with tetralogy of Fallot is the most rarely seen congenital heart disease. Children with this anomaly are an especially problematic category of patients undergoing staged surgical repair. The postoperative period quite often is complicated with shunt thrombosis while a redo open surgery is associated with a very high risk; therefore, endovascular repair is a preferred procedure. We describe a case of right ventricular outflow tract stenting in a 8 month old girl with tetralogy of Fallot and right pulmonary artery agenesis. The patient was admitted at 3 month after performing of a left-sided modified Blalock-Taussig shunt with severe signs of heart failure and desaturation caused by shunt thrombosis. Assessments performed at 2 months after stenting of the outflow tract demonstrated good oxygen saturation in arterial blood (80% and above and improvement of heart failure symptoms to NYHA II class.

  2. Associação de agenesia sacrococcígea e atresia anal em gato sem raça definida Sacrococcygeal agenesis association and anal atresia in mixed breed cats

    Directory of Open Access Journals (Sweden)

    Felipe Purcell de Araújo

    2009-09-01

    Full Text Available O presente trabalho teve como objetivo descrever o caso de um felino, que desde o nascimento apresentou atresia anal, ausência de cauda e malformação dos membros pélvicos. Ao exame radiográfico, pôde-se observar presença de agenesia da sétima vértebra lombar, sacro e vértebras coccígeas, espinha bífida, meningocele, hiperflexão dos joelhos e desvio valgo dos tarsos, diagnosticando-se agenesia sacrococcígea associada à atresia anal.This paper has the objective to report a case of a cat that since birth had anal atresia, absence of tail and malformation of the pelvic member. The radiographic examination revealed agenesis of the seventh lumbar vertebra, sacral and coccygeal vertebrae, spina bifida, meningocele, hyperflexion of the knees and tarsal valgus deviation, diagnosing sacrococcygeal agenesis associated with anal atresia.

  3. MR Imaging of renal transplants

    International Nuclear Information System (INIS)

    Gremo, L.; Avataneo, T.; Potenzoni, F.; Colla, L.; Segoloni, G.

    1988-01-01

    The authors report their experience in the study of renal transplant recipients by MR, in order to determine its clinical potentials. The main purpose of this work is to focus on MR patterns in relation to clinical findings of rejector or normally fuctioning kidney. Twenty-four patients were examined with a 0.5 T superconductive magnete, body coil, spin-echo pulse sequence (SE) and inversion-recovery (IR). MRI patterns could be seen in normally functioning kidneys and transplant rejections, while variable MRI findings were observed in transplants with acute tubular necrosis (ATN). In the normally functioning transplanted kidney there is a clear corticomedullary differentiation (CMD), and the extent of vascular penetration into the renal parenchyma is clearly seen. In transplant rejection, CMD is either diminished or absent, and there is no vascular penetration into the parenchyma; to differentiate acute from chronic rejections, the increase/decrease in renal size and the change in renal shape (spherical shape in acute transplant rejection) respectively must be observed. MRI proves thus to be useful in the study of renal transplants, even in case of questionable clinical findings, and in patients in whom renal biopsy is contraindicated

  4. Renal transplant scintigraphy (Part 1)

    International Nuclear Information System (INIS)

    Chew, Ghee

    2005-01-01

    Renal transplantation is the most effective mode of renal replacement therapy for correction of renal failure. Renal donors can either be: a. a deceased person - the kidneys being removed when brain death or absence of cerebral cortical function / perfusion is confirmed - the cadaveric kidney is packed in ice and nutrient solution and transplanted within 24 hours of removal ('cold ischemia') ob. a living donor - the donor may or may not be related to the recipient. Due to the limited length of the renal vessels and ureter of the donor kidney, it is implanted close to the bladder of the recipient. The donor vessels are anastomosed to the iliac artery and vein of the recipient. Transplant variants: a. 2 kidneys maybe transplanted because: - an old donor with less kidney reserve from atrophy due to age or disease (e.g. hypertension) - an infant donor when both kidneys are removed en bloc, b. Donor kidneys with more than 1 artery, vein or ureter. c. Donor horse shoe kidney d. Combined renal and pancreas transplant for type I diabetics -a short segment of duodenum transplanted with the pancreas maybe implanted into the bladder. Copyright (2005) The Australian and New Zealand Society of Nuclear Medicine

  5. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

    Directory of Open Access Journals (Sweden)

    Samin A Sajan

    Full Text Available Agenesis of the corpus callosum (ACC, cerebellar hypoplasia (CBLH, and polymicrogyria (PMG are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare genic CNVs over one megabase (p = 1.48×10⁻³; odds ratio [OR] = 3.19; 95% confidence interval [CI] = 1.89-5.39. Rare genic CNVs were those that impacted at least one gene in less than 1% of the combined population of patients and controls. Compared to controls, significantly more ACC but not CBLH or PMG patients had rare CNVs impacting over 20 genes (p = 0.01; OR = 2.95; 95% CI = 1.69-5.18. Independent qPCR confirmation showed that 9.4% of ACC patients had de novo CNVs. These, in comparison to inherited CNVs, preferentially overlapped de novo CNVs previously observed in patients with autism spectrum disorders (p = 3.06×10⁻⁴; OR = 7.55; 95% CI = 2.40-23.72. Interestingly, numerous reports have shown a reduced corpus callosum area in autistic patients, and diminished social and executive function in many ACC patients. We also confirmed and refined previously known CNVs, including significantly narrowing the 8p23.1-p11.1 duplication present in 2% of our current ACC cohort. We found six novel CNVs, each in a single patient, that are likely deleterious: deletions of 1p31.3-p31.1, 1q31.2-q31.3, 5q23.1, and 15q11.2-q13.1; and duplications of 2q11.2-q13 and 11p14.3-p14.2. One ACC patient with microcephaly had a paternally inherited deletion of 16p13.11 that included NDE1. Exome sequencing identified a recessive maternally inherited nonsense mutation in the non-deleted allele of NDE1, revealing the complexity of ACC genetics. This is the first systematic study of CNVs in congenital brain malformations, and

  6. A 3-year prospective study of implant-supported, single-tooth restorations of all-ceramic and metal-ceramic materials in patients with tooth agenesis.

    Science.gov (United States)

    Hosseini, Mandana; Worsaae, Nils; Schiødt, Morten; Gotfredsen, Klaus

    2013-10-01

    The purpose of this clinical study was to describe outcome variables of all-ceramic and metal-ceramic implant-supported, single-tooth restorations. A total of 59 patients (mean age: 27.9 years) with tooth agenesis and treated with 98 implant-supported single-tooth restorations were included in this study. Two patients did not attend baseline examination, but all patients were followed for 3 years. The implants supported 52 zirconia, 21 titanium and 25 gold alloy abutments, which retained 64 all-ceramic and 34 metal-ceramic crowns. At baseline and 3-year follow-up examinations, the biological outcome variables such as survival rate of implants, marginal bone level, modified Plaque Index (mPlI), modified Sulcus Bleeding Index (mBI) and biological complications were registered. The technical outcome variables included abutment and crown survival rate, marginal adaptation of crowns, cement excess and technical complications. The aesthetic outcome was assessed by using the Copenhagen Index Score, and the patient-reported outcomes were recorded using the OHIP-49 questionnaire. The statistical analyses were mainly performed by using mixed model of ANOVA for quantitative data and PROC NLMIXED for ordinal categorical data. The 3-year survival rate was 100% for implants and 97% for abutments and crowns. Significantly more marginal bone loss was registered at gold-alloy compared to zirconia abutments (P = 0.040). The mPlI and mBI were not significantly different at three abutment materials. The frequency of biological complications was higher at restorations with all-ceramic restorations than metal-ceramic crowns. Loss of retention, which was only observed at metal-ceramic crowns, was the most frequent technical complication, and the marginal adaptations of all-ceramic crowns were significantly less optimal than metal-ceramic crowns (P = 0.020). The professional-reported aesthetic outcome demonstrated significantly superior colour match of all-ceramic over metal

  7. Technical aspects of renal denervation in end-stage renal disease patients with challenging anatomy.

    Science.gov (United States)

    Spinelli, Alessio; Da Ros, Valerio; Morosetti, Daniele; Onofrio, Silvia D; Rovella, Valentina; Di Daniele, Nicola; Simonetti, Giovanni

    2014-01-01

    We describe our preliminary experience with percutaneous renal denervation in end-stage renal disease patients with resistant hypertension and challenging anatomy, in terms of the feasibility, safety, and efficacy of this procedure. Four patients with end-stage renal disease patients with resistant hypertension (mean hemodialysis time, 2.3 years) who had been taking at least four antihypertensive medications underwent percutaneous renal denervation. Renal artery eligibility included the absence of prior renal artery interventions, vessel stenosis renal denervation is a feasible approach for end-stage renal disease patients with resistant hypertension with encouraging short-term preliminary results in terms of procedural efficacy and safety.

  8. Continuous renal replacement therapy improves renal recovery from acute renal failure.

    Science.gov (United States)

    Jacka, Michael J; Ivancinova, Xenia; Gibney, R T Noel

    2005-03-01

    Acute renal failure (ARF) occurs in up to 10% of critically ill patients, with significant associated morbidity and mortality. The optimal mode of renal replacement therapy (RRT) remains controversial. This retrospective study compared continuous renal replacement therapy (CRRT) and intermittent hemodialysis (IHD) for RRT in terms of intensive care unit (ICU) and hospital mortality, and renal recovery. We reviewed the records of all patients undergoing RRT for the treatment of ARF over a 12-month period. Patients were compared according to mode of RRT, demographics, physiologic characteristics, and outcomes of ICU and hospital mortality and renal recovery using the Chi square, Student's t test, and multiple logistic regression as appropriate. 116 patients with renal insufficiency underwent RRT during the study period. Of these, 93 had ARF. The severity of illness of CRRT patients was similar to that of IHD patients using APACHE II (25.1 vs 23.5, P = 0.37), but they required significantly more intensive nursing (therapeutic intervention scale 47.8 vs 37.6, P = 0.0001). Mortality was associated with lower pH at presentation (P = 0.003) and increasing age (P = 0.03). Renal recovery was significantly more frequent among patients initially treated with CRRT (21/24 vs 5/14, P = 0.0003). Further investigation to define optimal timing, dose, and duration of RRT may be beneficial. Although further study is needed, this study suggests that renal recovery may be better after CRRT than IHD for ARF. Mortality was not affected significantly by RRT mode.

  9. Renal failure in patients with multiple myeloma.

    Science.gov (United States)

    Almueilo, Samir H

    2015-01-01

    Renal dysfunction is encountered in 20-25% of patients with multiple myeloma (MM) at the time of diagnosis. There is often a precipitating event. Several biochemical and clinical correlations with renal failure in MM have been reported. Renal failure in MM is associated with worse outcome of the disease. We retrospectively analyzed the medical records of 64 patients with MM admitted to our institution during the period January 1992 to December 2012. Abnormal renal function was observed in 24 (37.5%) patients and 17 (26.6%) of them had renal failure; 14 of the 17 (82.4%) of patients with renal failure had Stage III MM. Urine Bence- Jones protein was positive in ten (58.8%) patients with renal failure versus ten (21.3%) patients without renal failure (P = 0.004). Potential precipitating factors of renal failure were determined in nine patients. Renal function normalized in 11 patients with simple measures, while six patients required hemodialysis; one remained dialysis dependent till time of death. Early mortality occurred in five (29.4%) patients with renal failure as compared with two (4.3%) patients in the group without renal failure (P = 0.005). In conclusion, renal failure is associated with a higher tumor burden and Bence-Jones proteinuria in patients with MM. It is reversible in the majority of patients; however, early mortality tends to be higher in patients with persistent renal failure.

  10. Renal vasculitis presenting with acute kidney injury.

    Science.gov (United States)

    Villacorta, Javier; Diaz-Crespo, Francisco; Acevedo, Mercedes; Cavero, Teresa; Guerrero, Carmen; Praga, Manuel; Fernandez-Juarez, Gema

    2017-06-01

    Renal failure secondary to ANCA-associated vasculitis represents a clinical and therapeutic challenge. In this study, we aimed to assess the treatment response rates and long-term outcomes of vasculitis patients presenting with renal failure. This retrospective study included 151 patients with renal vasculitis from three hospitals who underwent a renal biopsy between 1997 and 2014. Patients with renal failure which required dialysis at the onset were compared to those presenting with more preserved renal function. The primary end point was treatment response and patient surivival. Patients with severe renal involvement had a lower response to treatment compared to those having preserved renal function (26.6 versus 93.4%; p renal recovery (41.6 versus 12.5%; p = 0.05). A higher incidence of severe infections was observed among patients with severe renal involvement (38.4 versus 18.1%, p = 0.01). The mortality rate was significantly higher among vasculitis patients presenting with renal failure (53.8 versus 22.2%, p = 0.001). Global survival at 1 and 5 years was 60 and 47% in patients requiring dialysis compared with 90 and 80% among those with more preserved renal function (p renal dysfunction represents an independent risk factor for patient survival in renal vasculitis. Patients requiring dialysis associate a lower response rate to immunosuppressive therapy and a higher incidence of severe infections.

  11. Effects of adenosine infusion into renal interstitium on renal hemodynamics

    International Nuclear Information System (INIS)

    Pawlowska, D.; Granger, J.P.; Knox, F.G.

    1987-01-01

    This study was designed to investigate the hemodynamic effects of exogenous adenosine in the interstitium of the rat kidney. Adenosine or its analogues were infused into the renal interstitium by means of chronically implanted capsules. In fusion of adenosine decreased glomerular filtration rate (GFR) from 0.81 +/- 0.06 to 0.37 +/- 0.06 ml/min while having no effect on renal blood flow (RBF). The metabolically stable analogue, 2-chloradenosine (2-ClAdo), decreased GFR from 0.73 +/- 0.07 to 021 +/- 0.06 ml/min. Interstitial infusion of theophylline, an adenosine receptor antagonist, completely abolished the effects of adenosine and 2-ClAdo on GFR. The distribution of adenosine, when infused into the renal interstitium, was determined using radiolabeled 5'-(N-ethyl)-carboxamidoadenosine (NECA), a metabolically stable adenosine agonist. After continuous infusion, [ 3 H]NECA was distributed throughout the kidney. The effects of NECA to reduce GFR were similar to those of adenosine and 2-ClAdo. They conclude that increased levels of adenosine in the renal interstitium markedly decrease GFR without affecting RBF in steady-state conditions. The marked effects of adenosine agonists during their infusion into the renal interstitium and the complete blockade of these effects by theophylline suggest an extracellular action of adenosine

  12. Crisis de esclerodermia renal normotensiva

    Directory of Open Access Journals (Sweden)

    M. Villaverde

    2003-01-01

    Full Text Available Paciente de sexo masculino de 60 años con esclerosis sistémica que evolucionó con crisis de esclerodermia renal normotensiva. Tenía compromiso poliarticular, esofágico, pulmonar y cutáneo. Antes de internarse en nuestro hospital recibió tratamiento con altas dosis de corticoides, lo que probablemente precipitó el daño renal que presentó en su evolución, caracterizado por falla renal, anemia hemolítica microangiopática sin elevación de la presión arterial. La ausencia de hipertensión se observa sólo en el 10% de los casos de esclerodermia renal. Recibió tratamiento con enalapril y hemodiálisis. Evolucionó en forma desfavorable, sin respuesta a la terapeútica y falleció a los siete días de internado.A 60 year old male patient having systemic scleroderma and normotensive scleroderma renal crisis was admitted in our hospital. He presented polyarticular, esophagic, lung and skin compromise. Before admission he had been treated with high doses of corticosteroids. We believe corticosteroids led to the worsening of renal damage with renal failure, microangiopathic hemolytic anemia without high blood pressure. The 10% of these cases have normal blood pressure. The patient was treated with enalapril and hemodyalisis. There was no favourable response to this treatment and he died seven days after admission.

  13. Dynamic CT of the renal parenchyma

    International Nuclear Information System (INIS)

    Ohyama, Yukio; Imanishi, Yoshimasa; Ishikawa, Tohru; Fujii, Masamichi; Uji, Teruyuki

    1985-01-01

    Normal renal dynamic CT findings of 57 cases were analysed in termes of sequential change of renal parenchymal CT image. Cortex, outer medulla and inner medulla were delineated and their sequential CT image was well correlated with the anatomicophysiological character of the kidney. Dynamic CT of 32 abnormal cases showed abnormal sequential CT findings explaining the mechanism of the abnormalities. Especially, delayed enhancement of renal cortex was noted in 17 of 19 kidneys with arterial obstruction and delayed enhancement of renal medulla in 22 of 25 cases with renal dysfunction. Compaired with excretory urography in 11 cases with renal dysfunction, advantage of dynamic CT were noted. (author)

  14. CT imaging spectrum of infiltrative renal diseases.

    Science.gov (United States)

    Ballard, David H; De Alba, Luis; Migliaro, Matias; Previgliano, Carlos H; Sangster, Guillermo P

    2017-11-01

    Most renal lesions replace the renal parenchyma as a focal space-occupying mass with borders distinguishing the mass from normal parenchyma. However, some renal lesions exhibit interstitial infiltration-a process that permeates the renal parenchyma by using the normal renal architecture for growth. These infiltrative lesions frequently show nonspecific patterns that lead to little or no contour deformity and have ill-defined borders on CT, making detection and diagnosis challenging. The purpose of this pictorial essay is to describe the CT imaging findings of various conditions that may manifest as infiltrative renal lesions.

  15. CT differentiation of infiltrating renal cell carcinoma and renal urothelial tumor

    International Nuclear Information System (INIS)

    Choi, Hyo Kyeong; Goo, Dong Erk; Bang, Sun Woo; Lee, Moon Gyu; Cho, Kyoung Sik; Auh, Yong Ho

    1994-01-01

    It may be difficult to differentiate renal cell carcinoma involving collecting system from renal urothelial tumor invading into renal parenchyma. The purpose of this study was to assess the differences of CT findings between two conditions. CT findings of 5 cases of renal cell carcinoma involving the renal collecting systems and 10 cases of renal urothelial tumors invading the renal parenchyma were compared, and analyzed about the presence or absence of hydronephrosis, normal or abnormal CT nephrogram, renal contour changes due to mass and tentative diagnosis. The diagnoses were confirmed at surgery. Renal cell carcinoma showed hydronephrosis in only 20% and normal CT nephrogram and outward contour bulging in all cases. In contrast, renal urothelial tumor showed hydronephrosis(70%), abnormal CT nephrogram(60%), and preservation of reinform shape(100%). Renal contour changes and CT nephrogram may be useful in distinguishing both disease entities

  16. Hyperdense renal masses: a CT manifestation of hemorrhagic renal cysts

    International Nuclear Information System (INIS)

    Sussman, S.; Cochran, S.T.; Pagani, J.J.; McArdle, C.; Wong, W.; Austin, R.; Curry, N.; Kelly, K.M.

    1984-01-01

    Eleven patients with sharply circumscribed round to ovoid renal cysts measuring 70-90 H on CT are reported. The cysts were hyperdense on unenhanced scans, measuring 30-60 H greater than the adjacent parenchyma, and either hypodense, isodense, or hyperdense on enhanced scans. Four patients had polycystic kidney disease; of the other 7 patients, the cysts were cortical in 6 and parapelvic in 1. Eight patients had a solitary cyst and 3 had multiple cysts. Sonography demonstrated internal echoes and/or lack of increased through-transmission in 6 patients. Pathological analysis was available in 6 cases and indicated a benign, hemorrhagic renal cyst. This hyperdense CT appearance is characteristic of some hemorrhagic renal cysts, though differentiation between benign and malignant cysts requires cyst puncture and/or surgery

  17. [Renal hemorrhage after ESWL: From small hematoma to renal blowout].

    Science.gov (United States)

    Panach-Navarrete, Jorge; Palmero Martí, Jose Luis; Ganau Ituren, Amparo; Pastor Lence, Juan Carlos; Benedicto Redón, Antonio

    2016-04-01

    To report two cases of renal hemorrhage after extracorporeal shock wave lithotripsy (ESWL) and their therapeutic management. Description of the clinical cases, together with the diagnosis and therapeutic management of these complications. We present two cases of patients with renal hemorrhage after ESWL, which were performed without immediate complications. One of the cases, after detecting an important laceration of the renal parenchyma, needed two embolization sessions for its short-term resolution; however, the patient finally passed away due to the complications derived from hemorrhage. The other case was solved through conservative management. Even though hemorrhage is an infrequent complication after ESWL, it should be suspected when the patient presents compatible clinical symptoms, since even though most cases are resolved in a conservative manner, on some occasions specific treatments for the hemorrhage are necessary. Old age and the presence of vascular comorbidities seem to be related to a higher risk of hemorrhage after ESWL.

  18. Renal Blood Flow, Glomerular Filtration Rate, and Renal Oxygenation in Early Clinical Septic Shock.

    Science.gov (United States)

    Skytte Larsson, Jenny; Krumbholz, Vitus; Enskog, Anders; Bragadottir, Gudrun; Redfors, Bengt; Ricksten, Sven-Erik

    2018-06-01

    Data on renal hemodynamics, function, and oxygenation in early clinical septic shock are lacking. We therefore measured renal blood flow, glomerular filtration rate, renal oxygen consumption, and oxygenation in patients with early septic shock. Prospective comparative study. General and cardiothoracic ICUs. Patients with norepinephrine-dependent early septic shock (n = 8) were studied within 24 hours after arrival in the ICU and compared with postcardiac surgery patients without acute kidney injury (comparator group, n = 58). None. Data on systemic hemodynamics and renal variables were obtained during two 30-minute periods. Renal blood flow was measured by the infusion clearance of para-aminohippuric acid, corrected for renal extraction of para-aminohippuric acid. Renal filtration fraction was measured by renal extraction of chromium-51 labeled EDTA. Renal oxygenation was estimated from renal oxygen extraction. Renal oxygen delivery (-24%; p = 0.037) and the renal blood flow-to-cardiac index ratio (-21%; p = 0.018) were lower, renal vascular resistance was higher (26%; p = 0.027), whereas renal blood flow tended to be lower (-19%; p = 0.068) in the septic group. Glomerular filtration rate (-32%; p = 0.006) and renal sodium reabsorption (-29%; p = 0.014) were both lower in the septic group. Neither renal filtration fraction nor renal oxygen consumption differed significantly between groups. Renal oxygen extraction was significantly higher in the septic group (28%; p = 0.022). In the septic group, markers of tubular injury were elevated. In early clinical septic shock, renal function was lower, which was accompanied by renal vasoconstriction, a lower renal oxygen delivery, impaired renal oxygenation, and tubular sodium reabsorption at a high oxygen cost compared with controls.

  19. Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome?

    NARCIS (Netherlands)

    Hennekam, R. C.; Huber, J.; Variend, D.

    1994-01-01

    We report on two Dutch sibs with external anomalies compatible with Bartsocas-Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other

  20. Acute renal failure in rats

    International Nuclear Information System (INIS)

    Cederholm, C.; Almen, T.; Bergquist, D.; Golman, K.; Takolander, R.; Malmoe Allmaenna Sjukhus

    1989-01-01

    It was demonstrated in rats that renal injury which follows transient renal hypoxia is potentiated by the contrast media metrizoate, ioxaglate, iopamidol and iohexol. Intravenous injection of 1 g I/kg of all four media alone to 82 rats caused no significant increase in serum urea 1, 3 and 7 days later. The percentage increase of serum urea is given in median values and interquartile range (in parentheses). Bilateral renal arterial occlusion alone for 40 minutes in 42 rats increased serum urea one day later by 40% (20-130). Intravenous injection of the media followed in one hour by bilateral renal arterial occlusion for 40 minutes in 104 rats caused serum urea to increase one day later by 130% (70-350) after metrizoate, by 220% (50-380) after ioxaglate, by 290 % (60-420) after iopamidol and by 160% (50-330) after iohexol. There were no significant differences between the potentiating effects of the various media on ischemic renal failure. (orig.)

  1. Massive postpartum right renal hemorrhage.

    Science.gov (United States)

    Kiracofe, H L; Peterson, N

    1975-06-01

    All reported cases of massive postpartum right renal hemorrhage have involved healthy young primigravidas and blacks have predominated (4 of 7 women). Coagulopathies and underlying renal disease have been absent. Hematuria was painless in 5 of 8 cases. Hemorrhage began within 24 hours in 1 case, within 48 hours in 4 cases and 4 days post partum in 3 cases. Our first case is the only report in which hemorrhage has occurred in a primipara. Failure of closure or reopening of pyelovenous channels is suggested as the pathogenesis. The hemorrhage has been self-limiting, requiring no more than 1,500 cc whole blood replacement. Bleeding should stop spontaneously, and rapid renal pelvic clot lysis should follow with maintenance of adequate urine output and Foley catheter bladder decompression. To date surgical intervention has not been necessary.

  2. Renal Myxoma, an Incidental Finding

    Directory of Open Access Journals (Sweden)

    Parth Thakker

    2017-07-01

    Full Text Available Myxomas are mesenchymal tumors commonly found in the heart and skin. Renal myxomas are rare, having only been documented 14 times. Our case is a 55-year-old woman who presented to our clinic after a right renal mass was incidentally found on CT. Evaluation with MRI showed a mass that appeared to arise from the supero-medial cortex of the right kidney. As the imaging was concerning for renal cell carcinoma, the patient underwent a partial nephrectomy. Microscopic examination showed a well-circumscribed mass with polygonal to spindle-shaped cells in a granular eosinophilic cytoplasm. Immunohistochemical staining for CD-10, Desmin, HMB-45, and Pankeratin were negative.

  3. Renal diseases in AIDS patients

    OpenAIRE

    Álvarez Escobar, María del Carmen; Alfonso de León, José Alberto; Lima Gutiérrez, Héctor; Torres Álvarez, Armella; Torres Álvarez, Arling Yuliett

    2009-01-01

    La afectación renal en el SIDA es un tema poco abordado a pesar de su frecuencia, la misma depende de la acción directa e indirecta del virus, así como de las complicaciones y del tratamiento. La más frecuente de las complicaciones es la Insuficiencia Renal Aguda. La forma más típica de nefropatía asociada al VIH (NAVIH) se caracteriza por alto grado de proteinuria con progresión rápida a Insuficiencia Renal Terminal. En el SIDA se presentan diversas formas de glomerulopatías cuya expresión c...

  4. CT of the renal infarction

    International Nuclear Information System (INIS)

    Tazawa, Satoru; Ito, Hisao; Tange, Isamu

    1984-01-01

    We have five cases of the global renal infarction, four of which resulted from post-transarterial embolization(TAE) of the hypernephroma, the remaining one was probably caused by the cardiac disease. Generally speaking, CE-CT is useful for the diagnosis of the acute renal infarction, because the ''rim sign'' which represents viable subcapsular parenchyma is helpful for the diagnosis. It seems that band-like enhancement from the renal sinus to the periphery in the low-attenuation-parenchyma on CE-CT, named as ''band sign'', is useful for the diagnosis. ''Band sign'' may also be valuable for distinguishing the neoplastic area from the non-neoplastic one after TAE of the hypernephroma. (author)

  5. Radiologic observation of renal tuberculosis

    International Nuclear Information System (INIS)

    Kim, S. W.; Ra, Y. W.; Kim, Y. J.

    1981-01-01

    Radiographic findings of thirty eight cases of renal tuberculosis treated at this hospital during last 4 years were analysed with following results. The cases examined were 24 male and 14 female patients. Age distribution was broad and evenly distributed ranging from 2nd decades to 5th decades. Main symptoms complained were urinary frequency, hematuria, dysuria and flank pain. Findings of physical examination revealed tenderness of costovertebral angle, palpable mass on flank area and epididymal indutration. The simple chest films showed pulmonary tuberculosis in 22 cases including 6 cases of active military type. Thirty one cases showed increased ESR, 8 cases showed AFB positive in urine and 12 cases showed bilateral renal tuberculosis. Through urographic findings nonvisualization, cyceopelviectasis, motheaten appearance of minor calyx, contracted bladder, delayed visualization, ureteral stricture and beading were observed in order of frequency. Five cases with miliary tuberculosis showed advanced renal lesion on urogram

  6. Renal replacement therapy in Europe

    DEFF Research Database (Denmark)

    Noordzij, Marlies; Kramer, Anneke; Abad Diez, José M

    2014-01-01

    the Mediterranean Sea were used. From 27 registries, individual patient data were received, whereas 17 registries contributed data in aggregated form. We present the incidence and prevalence of RRT, and renal transplant rates in 2011. In addition, survival probabilities and expected remaining lifetimes were....... The overall unadjusted prevalence of RRT for ESRD on 31 December 2011 was 692 pmp (n = 425 824). The highest prevalence was reported by Portugal (1662 pmp) and the lowest by Ukraine (131 pmp). Among all registries, a total of 22 814 renal transplantations were performed (37 pmp). The highest overall.......6-47.0], and on dialysis 39.3% (95% CI 39.2-39.4). The unadjusted 5-year patient survival after the first renal transplantation performed between 2002 and 2006 was 86.7% (95% CI 86.2-87.2) for kidneys from deceased donors and 94.3% (95% CI 93.6-95.0) for kidneys from living donors....

  7. CT diagnosis of simple renal cysts

    International Nuclear Information System (INIS)

    Nanakawa, Seito; Yasunaga, Tadamasa; Tsuchigame, Tadatoshi; Kawano, Shoji; Takahashi, Mutsumasa; Fukui, Koutaro.

    1987-01-01

    CT is indispensable in the evaluation of renal masses, providing noninvasive and clear transverse images. With wider clinical application of CT, renal cysts have been found more frequently. CT examinations on 500 patients, who underwent CT for the diagnosis of renal diseases except for renal cysts, have been reviewed and analysed. The incidence of renal cysts was 9.6 % without prediction for sexes, but the incidence and sizes of the cysts increased with the advancing age. The upper portion of the kidneys was more frequently involved, but there was no relationship between number, sex and age of the patients. Since renal cysts produce mass effect in the kidneys, understanding of the nature and incidence of the renal cysts is important in diagnosing renal mass lesions. (author)

  8. Drugs Approved for Kidney (Renal Cell) Cancer

    Science.gov (United States)

    ... Your Treatment Research Drugs Approved for Kidney (Renal Cell) Cancer This page lists cancer drugs approved by the ... not listed here. Drugs Approved for Kidney (Renal Cell) Cancer Afinitor (Everolimus) Aldesleukin Avastin (Bevacizumab) Axitinib Bevacizumab Cabometyx ( ...

  9. Radionuclide renal dynamic and function study

    International Nuclear Information System (INIS)

    Guan Liang

    1991-01-01

    The radionuclide dynamic and function study, glomerular filtration rate (GFR) and effective renal plasma flow (ERPF) were reported in 14 cases of renal and ureteral calculi patients before and after extracorporeal shock wave lithotripsy (ESWL). In 12 cases with normal renal blood flow, within 3 months after ESWL, the GFR of shock and non-shock side decreased with different extent, while the individual ERPF had little change. In 5 cases followed up 1 year after ESWL, the individual GFR and ERPF were normal. In 2 cases of severe renal function insufficiency, there was no improvement in renal function in shock side, after 5 months and 1 year, the renal function was still at low level. Thereby it is considered that ESWL is not suitable for the renal calculi patients with severe renal function insufficiency

  10. Renal endothelial function and blood flow predict the individual susceptibility to adriamycin-induced renal damage

    NARCIS (Netherlands)

    Ochodnicky, Peter; Henning, Robert H.; Buikema, Hendrik; Kluppel, Alex C. A.; van Wattum, Marjolein; de Zeeuw, Dick; van Dokkum, Richard P. E.

    2009-01-01

    Susceptibility to renal injury varies among individuals. Previously, we found that individual endothelial function of healthy renal arteries in vitro predicted severity of renal damage after 5/6 nephrectomy. Here we hypothesized that individual differences in endothelial function in vitro and renal

  11. The renal arterial resistive index and stage of chronic kidney disease in patients with renal allograft

    DEFF Research Database (Denmark)

    Winther, Stine O; Thiesson, Helle C; Poulsen, Lene N

    2012-01-01

    The study investigated the optimal threshold value of renal arterial resistive index as assessed by Doppler ultrasonography determining chronic kidney disease stage 4 or higher in patients with renal allograft.......The study investigated the optimal threshold value of renal arterial resistive index as assessed by Doppler ultrasonography determining chronic kidney disease stage 4 or higher in patients with renal allograft....

  12. Bumetanide kinetics in renal failure

    International Nuclear Information System (INIS)

    Pentikaeinen, P.J.P.; Pasternack, A.; Lampainen, E.; Neuvonen, P.J.; Penttilae, A.

    1985-01-01

    To study the effects of renal failure on bumetanide kinetics, the authors administered single intravenous doses of 1.0 mg/3.08 microCi 14 C-bumetanide to six healthy subjects and 22 patients with variable degrees of renal failure. The kinetics of 14 C-bumetanide and total 14 C were adequately described by a two-compartment open model in the control subjects and in the patients. The volume of the central compartment and the distribution t1/2 were of the same order in both groups, whereas the mean (+/- SE) volume at steady state was larger (22.1 +/- 1.6 and 16.9 +/- 1.0 L) and the elimination t1/2 was longer (1.9 +/- 0.2 and 1.4 +/- 0.1 hours) in patients with renal failure than in healthy controls. Bumetanide renal clearance was lower (10 +/- 3 and 90 +/- 13 ml/min) in patients than in subjects and correlated with creatinine clearance (r = 0.784) and log serum creatinine level (r = -0.843), whereas nonrenal clearance was significantly higher in the patients (153 +/- 14 and 99 +/- 6 ml/min). Bumetanide total plasma clearance did not significantly change. The non-protein-bound, free fraction of bumetanide was higher in patients and correlated with plasma albumin levels (r = -0.777). The kinetics of total 14 C showed similar but greater changes than those of 14C-bumetanide. Thus the most important changes in bumetanide kinetics in patients with renal failure are low renal clearance and a high free fraction, with a consequent increase in nonrenal clearance, volume of distribution, and elimination t1/2

  13. Molecular mechanisms of renal aging.

    Science.gov (United States)

    Schmitt, Roland; Melk, Anette

    2017-09-01

    Epidemiologic, clinical, and molecular evidence suggest that aging is a major contributor to the increasing incidence of acute kidney injury and chronic kidney disease. The aging kidney undergoes complex changes that predispose to renal pathology. The underlying molecular mechanisms could be the target of therapeutic strategies in the future. Here, we summarize recent insight into cellular and molecular processes that have been shown to contribute to the renal aging phenotype.The main clinical finding of renal aging is the decrease in glomerular filtration rate, and its structural correlate is the loss of functioning nephrons. Mechanistically, this has been linked to different processes, such as podocyte hypertrophy, glomerulosclerosis, tubular atrophy, and gradual microvascular rarefaction. Renal functional recovery after an episode of acute kidney injury is significantly worse in elderly patients. This decreased regenerative potential, which is a hallmark of the aging process, may be caused by cellular senescence. Accumulation of senescent cells could explain insufficient repair and functional loss, a view that has been strengthened by recent studies showing that removal of senescent cells results in attenuation of renal aging. Other potential mechanisms are alterations in autophagy as an important component of a disturbed renal stress response and functional differences in the inflammatory system. Promising therapeutic measures to counteract these age-related problems include mimetics of caloric restriction, pharmacologic renin-angiotensin-aldosterone system inhibition, and novel strategies of senotherapy with the goal of reducing the number of senescent cells to decrease aging-related disease in the kidney. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  14. Renal dysplasia in a Rhodesian Ridgeback dog

    International Nuclear Information System (INIS)

    Lobetti, R.G.; Pearson, J.; Jimenez, M.

    1996-01-01

    A six-month-old Rhodesian ridgeback dog was presented for evaluation of facial swelling. Chronic renal failure was clinically diagnosed based on urinalysis, biochemical changes and ultrasonography. The facial swelling was due to fibrous osteodystrophy, which was evident on survey radiographs of the skull. On post mortem examination, chronic renal failure as a result of renal dysplasia was confirmed. This is the first reported case of renal dysplasia in this breed of dog

  15. Agenesis of the Corpus Callosum

    Science.gov (United States)

    ... callosum, the structure that connects the two hemispheres (left and right) of the brain. In ACC the corpus callosum is partially or completely absent. It is caused by a disruption of brain cell migration during fetal development. ACC can occur as an isolated condition or ...

  16. [Multiple agenesis and prosthetic restoration].

    Science.gov (United States)

    Renault, P

    1990-03-01

    Cases of multiple agenesia present some difficulties in the treatment planing. Three situations may be encountered: limited agenesia, restored by a fixed, bonded or cemented prosthesis, multiple uni- or bimaxillary agenesia without remaining of deciduous teeth, restored by a fixed, bonded or cemented prosthesis or the partial adjacent prosthesis, multiple uni- or bimaxillary agenesia with remaining of deciduous teeth, restored by means of a supra-dental prosthesis. The first two situations have been described in dental literature and are relatively easy to treat. The same is not true for the third situation, where the decision to keep the temporary teeth considerably increases the difficulty of prosthetic restoration. This subject will be illustrated by the presentation of a clinical case of multiple bi-maxillary agenesia. The patient has: on the maxilla: an absence of 9 permanent teeth (18, 15, 14, 12, 22, 23, 24, 25, 28) and the presence of 4 deciduous teeth (62, 63, 64, 65), on the mandible: an absence of all permanent teeth, with the exception of 36 and 46, and the remaining of 4 deciduous teeth (75, 73, 83, 84). The remaining of deciduous teeth and the presence of a very high inter-arch space led to opting for dental coverage so as to keep the deciduous teeth and a proper vertical dimension. The patient wished to solve his "problem" in the maxilla first, and is not wanting to undergo the extraction of his deciduous teeth. The following therapeutic proposal was adapted: On the maxilla, a three-step procedure: first step: building of metal copings on 13, 16 and 26 and metal-ceramic crowns on 11 and 21, second step: building of telescop crowns on 16 and 26 and clasps on 13, 11 and 21, third step: casting of the removable partial denture framework and soldering to the telescop crowns and clasps. On the mandible, a provisional restoration using a supra-dental resin removable partial denture with ceramic occlusal surfaces was adopted. The aesthetic and functional improvement, as well as the comfort provided to the patient due to this kind of mixed prosthesis, appeared to be satisfactory.

  17. Study of acute renal insufficiency and chronic renal insufficiency using radioisotopes

    International Nuclear Information System (INIS)

    Raynaud, C.

    1976-01-01

    Radioisotopic renal function tests are of assistance to diagnose and follow-up the course of renal insufficiency. The radioisotopic renogram is useful in assessing the response to therapy of child obstructive uropathies and evaluating renal transplant function. The renal scan is helpful, in an emergency service, to differenciate chronic renal insufficiency from acute renal insufficiency. Hg renal uptake test provides informations on physiopathological problems. Among them, the following problems are emphasized: evolution of a nonfunctioning kidney, control of the success of a reparative surgery and of bilateral obstructive uropathies with unilateral symptoms [fr

  18. Acute renal infarction Secondary to Atrial Fibrillation Mimicking Renal Stone Picture

    International Nuclear Information System (INIS)

    Salih, Salih Bin; Al-Durihim, H.; Al-Jizeeri, A.; Al-Maziad, G.

    2006-01-01

    Acute renal infarction presents in a similar clinical picture to that of a renal stone. We report a 55-year-old Saudi female, known to have atrial fibrillation secondary to mitral stenosis due to rheumatic heart disease. She presented with a two day history of right flank pain that was treated initially as renal stone. Further investigations confirmed her as a case of renal infarction. Renal infarction is under-diagnosed because the similarity of its presentation to renal stone. Renal infarction should be considered in the differential diagnosis of loin pain, particularly in a patient with atrial fibrillation. (author)

  19. Glomerular Filtration Rate Estimation in Renal and Non-Renal Solid Organ Transplantation

    DEFF Research Database (Denmark)

    Hornum, Mads; Feldt-Rasmussen, Bo

    2017-01-01

    Following transplantation (TX) of both renal and non-renal organs, a large proportion of patients have renal dysfunction. There are multiple causes for this. Chronic nephrotoxicity and high doses of calcineurin inhibitors are important factors. Preoperative and perioperative factors like...... or estimates of renal function in these patients, in order to accurately and safely dose immunosuppressive medication and perform and adjust the treatment and prophylaxis of renal dysfunction. This is a short overview and discussion of relevant studies and possible caveats of estimated glomerular filtration...... rate methods for use in renal and non-renal TX....

  20. Sonographic findings of renal tuberculosis

    International Nuclear Information System (INIS)

    Yoon, Chong Hyun; Lee, Chang Joon; Kim, Seung Hyun

    1990-01-01

    In order to determine sonographic characteristic of renal tuberculosis, we retrospectively collected 27 cases during a 5 year period. Infected kidneys showed large size (52%) and lobulating contour (76%). In 19 cases of increased parenchymal echogenicity, most of them (16 cases) showed decreased parenchymal thickness. We divided hydronephrotic patterns into 4 categories; predominant calyceal dilatation with mild or no pelvic dilatation (67%), focal calyectasis without pelvic dilation (15%), parenchymal cavitation without hydronephrosis (11%) and proportional hydronephrosis with calyceal deformity (7%). Our findings suggest that disproportional hydronephrosis would be the characteristic finding of renal tuberculosis

  1. Renal pelvis urothelial carcinoma of the upper moiety in complete right renal duplex: a case report.

    Science.gov (United States)

    Zhang, Yiran; Yu, Quanfeng; Zhang, Zhihong; Liu, Ranlu; Xu, Yong

    2015-01-01

    Urothelial carcinoma (UC) originated from renal pelvis is the common tumor of the urinary system, however, neoplasia of the renal pelvis in duplex kidneys is extremely rare, especially in the complete renal and ureteral duplex cases. We present the first case of renal pelvis UC of the upper moiety in a complete right renal duplex. This male patient has bilateral complete renal and ureteral duplex. To the best of our knowledge, this is the first reported case of renal pelvis UC in a complete renal duplex system. After this experience we feel that the diagnosis of renal pelvis UC in duplex kidneys is not so easy, and once the diagnosis is determined, the whole renal duplex units and bladder cuff or ectopic orifice should be excised radically.

  2. Salvageability of renal function following renal revascularisation in ...

    African Journals Online (AJOL)

    reported on the outcome of hypertension in a cohort of patients with Takayasu's ... Against Rheumatism/Paediatric Rheumatology European Society ... Association guidelines for reporting of renal artery revascularisation .... reversing the dialysis dependence of 2 of the 3 patients who were .... Clinical Practice Guidelines.

  3. Maternal drugs and neonatal renal failure

    Directory of Open Access Journals (Sweden)

    M Sahay

    2014-01-01

    Full Text Available Maternal use of drugs during pregnancy may cause irreversible renal failure in the newborn. This report highlights the adverse effect of telmisartan during the last trimester of pregnancy. The neonate presented with oliguric renal failure and the renal histology showed proximal tubular dysgenesis.

  4. Hypogonadism and renal failure: An update.

    Science.gov (United States)

    Thirumavalavan, Nannan; Wilken, Nathan A; Ramasamy, Ranjith

    2015-01-01

    The prevalence of both hypogonadism and renal failure is increasing. Hypogonadism in men with renal failure carries with it significant morbidity, including anemia and premature cardiovascular disease. It remains unclear whether testosterone therapy can affect the morbidity and mortality associated with renal failure. As such, in this review, we sought to evaluate the current literature addressing hypogonadism and testosterone replacement, specifically in men with renal failure. The articles chosen for this review were selected by performing a broad search using Pubmed, Embase and Scopus including the terms hypogonadism and renal failure from 1990 to the present. This review is based on both primary sources as well as review articles. Hypogonadism in renal failure has a multifactorial etiology, including co-morbid conditions such as diabetes, hypertension, old age and obesity. Renal failure can lead to decreased luteinizing hormone production and decreased prolactin clearance that could impair testosterone production. Given the increasing prevalence of hypogonadism and the potential morbidity associated with hypogonadism in men with renal failure, careful evaluation of serum testosterone would be valuable. Testosterone replacement therapy should be considered in men with symptomatic hypogonadism and renal failure, and may ameliorate some of the morbidity associated with renal failure. Patients with all stages of renal disease are at an increased risk of hypogonadism that could be associated with significant morbidity. Testosterone replacement therapy may reduce some of the morbidity of renal failure, although it carries risk.

  5. Relationship Between Adult Renal Dimensions and Biometric ...

    African Journals Online (AJOL)

    We measured renal dimensions sonographically and correlated the values obtained with some anthropometric parameters in order to identify the best estimate of renal size in a clinical setting. The renal dimensions of 200 adult subjects referred for abdomino-pelvic scan at University of Nigeria Teaching Hospital, Enugu ...

  6. Protein restriction in chronic renal failure

    NARCIS (Netherlands)

    ECHTEN, JEKT; NAUTA, J; HOP, WCJ; de Jong, MCJ; REITSMABIERENS, WCC; VANAMSTEL, SLBP; VANACKER, KJ; NOORDZIJ, CM; WOLFF, ED

    The aim of the study was to investigate the effect of a protein restricted diet on renal function and growth of children with chronic renal failure. In a multicentre prospective study 56 children (aged 2-18 years) with chronic renal failure were randomly assigned to the protein restricted (0.8-1.1

  7. Primary Renal Carcinoid - A Case Report

    LENUS (Irish Health Repository)

    O’Sullivan, M

    2018-01-01

    Carcinoid tumours in the abdomen are uncommon, but typically occur in the gastrointestinal tract. Primary renal carcinoid is an extremely rare tumour, poorly described in the literature. We describe an unusual case where an atypical renal mass on imaging led to a preoperative diagnosis of renal carcinoid on imaging guiding biopsy.

  8. Dynamic renal scintigraphy in aortic disorders

    International Nuclear Information System (INIS)

    Terae, Satoshi; Itoh, Kazuo; Tsukamoto, Eriko; Nakada, Kunihiro; Fujimori, Kenji; Hashimoto, Masato; Tanabe, Tatsuzo; Furudate, Masayori; Irie, Goro

    1986-01-01

    Dynamic renal scintigraphy has been reviewed for evaluation of renal arterial involvement in aortic disorders such as arteriosclerosis obliterans, abdominal aortic aneurysm and dissecting aneurysm. As a diagnostic finding and parameters, we used blood perfusion images of both kidneys and relative split renal function index obtained with analysis of the time-activity curves which were generated using a renal region of interest. In the diagnosis of unilateral renal arterial involvement, sensitivity and specificity of blood perfusion images were 100 % (9/9) and 77 % (10/13) and those of relative split renal function index were 78 % (7/9) and 92 % (12/13), respectively. Dynamic renal scintigraphy was useful for evaluating unilateral renal arterial involvement in aortic diseases. However, scintigraphic diagnosis of bilateral renal arterial involvement were difficult. And in a severe case, we could not differentiate renal parenchymal damage due to renovascular involvement from senile renal dysfunction or hypertensive renal disease which is often a cause of aortic disorders. (author)

  9. Renal rescue of dopamine D2 receptor function reverses renal injury and high blood pressure

    Science.gov (United States)

    Konkalmatt, Prasad R.; Asico, Laureano D.; Zhang, Yanrong; Yang, Yu; Drachenberg, Cinthia; Zheng, Xiaoxu; Han, Fei; Jose, Pedro A.; Armando, Ines

    2016-01-01

    Dopamine D2 receptor (DRD2) deficiency increases renal inflammation and blood pressure in mice. We show here that long-term renal-selective silencing of Drd2 using siRNA increases renal expression of proinflammatory and profibrotic factors and blood pressure in mice. To determine the effects of renal-selective rescue of Drd2 expression in mice, the renal expression of DRD2 was first silenced using siRNA and 14 days later rescued by retrograde renal infusion of adeno-associated virus (AAV) vector with DRD2. Renal Drd2 siRNA treatment decreased the renal expression of DRD2 protein by 55%, and DRD2 AAV treatment increased the renal expression of DRD2 protein by 7.5- to 10-fold. Renal-selective DRD2 rescue reduced the expression of proinflammatory factors and kidney injury, preserved renal function, and normalized systolic and diastolic blood pressure. These results demonstrate that the deleterious effects of renal-selective Drd2 silencing on renal function and blood pressure were rescued by renal-selective overexpression of DRD2. Moreover, the deleterious effects of 45-minute bilateral ischemia/reperfusion on renal function and blood pressure in mice were ameliorated by a renal-selective increase in DRD2 expression by the retrograde ureteral infusion of DRD2 AAV immediately after the induction of ischemia/reperfusion injury. Thus, 14 days after ischemia/reperfusion injury, the renal expression of profibrotic factors, serum creatinine, and blood pressure were lower in mice infused with DRD2 AAV than in those infused with control AAV. These results indicate an important role of renal DRD2 in limiting renal injury and preserving normal renal function and blood pressure. PMID:27358912

  10. Role of RENAL nephrometry scoring system in planning surgical intervention in patients with localized renal mas

    OpenAIRE

    Mohamed Samir Shaaban; Tamer Mohammed Abou Youssif; Ahmed Mostafa; Hossam Eldin Hegazy; Mohammed Adel Atta

    2015-01-01

    Purpose: The study was designed to validate the value of preoperative planning using RENAL nephrometry scoring system in patients having organ confined renal tumors and undergoing surgical intervention and to assess its correlation with the surgical technique. Patient and methods: Forty patients with organ-confined renal masses underwent RENAL nephrometry scoring which was correlated with the surgical technique either radical or nephron-sparing surgery. Result: RENAL nephrometry scoring...

  11. Case report 332: A complex anomaly of the craniovertebral junction representing a regressive malformation with agenesis of the neural arch of C-2, hypomorphogenesis at C5-C6 and instability of the upper cervical spine

    International Nuclear Information System (INIS)

    Bernini, F.P.; Muras, I.

    1985-01-01

    In summary, a very complex anomaly, including agenesis of the neural arch of the axis, hypomorphogenesis of the cervical spine at the C5-C6 level with a partial ''blocked'' vertebra and disability of the upper cervical spine, is reported in a 31-year-old man. The anomalies associated with these changes are described in detail in the text and illustrated radiologically. The relationship of the embryological alterations in contrast with the normal is described and emphasized, particularly in the upper cervical area. It is stressed that narrowing of the space from the back of the odontoid (or the posterior lip of the foramen magnum) is a direct result of the complex anomalies described in this case, producing compression of the medulla and/or the upper cervical spinal cord. The literature on this subject is reviewed in depth. (orig.)

  12. Chemical Renal Denervation in the Rat

    Energy Technology Data Exchange (ETDEWEB)

    Consigny, Paul M., E-mail: paul.consigny@av.abbott.com; Davalian, Dariush, E-mail: dariush.davalian@av.abbott.com [Abbott Vascular, Innovation Incubator (United States); Donn, Rosy, E-mail: rosy.donn@av.abbott.com; Hu, Jie, E-mail: jie.hu@av.abbott.com [Abbott Vascular, Bioanalytical and Material Characterization (United States); Rieser, Matthew, E-mail: matthew.j.rieser@abbvie.com; Stolarik, DeAnne, E-mail: deanne.f.stolarik@abbvie.com [Abbvie, Analytical Pharmacology (United States)

    2013-12-03

    Introduction: The recent success of renal denervation in lowering blood pressure in drug-resistant hypertensive patients has stimulated interest in developing novel approaches to renal denervation including local drug/chemical delivery. The purpose of this study was to develop a rat model in which depletion of renal norepinephrine (NE) could be used to determine the efficacy of renal denervation after the delivery of a chemical to the periadventitial space of the renal artery. Methods: Renal denervation was performed on a single renal artery of 90 rats (n = 6 rats/group). The first study determined the time course of renal denervation after surgical stripping of a renal artery plus the topical application of phenol in alcohol. The second study determined the efficacy of periadventitial delivery of hypertonic saline, guanethidine, and salicylic acid. The final study determined the dose–response relationship for paclitaxel. In all studies, renal NE content was determined by liquid chromatography–mass spectrometry. Results: Renal NE was depleted 3 and 7 days after surgical denervation. Renal NE was also depleted by periadventitial delivery of all agents tested (hypertonic saline, salicylic acid, guanethidine, and paclitaxel). A dose response was observed after the application of 150 μL of 10{sup −5} M through 10{sup −2} M paclitaxel. Conclusion: We developed a rat model in which depletion of renal NE was used to determine the efficacy of renal denervation after perivascular renal artery drug/chemical delivery. We validated this model by demonstrating the efficacy of the neurotoxic agents hypertonic saline, salicylic acid, and guanethidine and increasing doses of paclitaxel.

  13. Chemical Renal Denervation in the Rat

    International Nuclear Information System (INIS)

    Consigny, Paul M.; Davalian, Dariush; Donn, Rosy; Hu, Jie; Rieser, Matthew; Stolarik, DeAnne

    2014-01-01

    Introduction: The recent success of renal denervation in lowering blood pressure in drug-resistant hypertensive patients has stimulated interest in developing novel approaches to renal denervation including local drug/chemical delivery. The purpose of this study was to develop a rat model in which depletion of renal norepinephrine (NE) could be used to determine the efficacy of renal denervation after the delivery of a chemical to the periadventitial space of the renal artery. Methods: Renal denervation was performed on a single renal artery of 90 rats (n = 6 rats/group). The first study determined the time course of renal denervation after surgical stripping of a renal artery plus the topical application of phenol in alcohol. The second study determined the efficacy of periadventitial delivery of hypertonic saline, guanethidine, and salicylic acid. The final study determined the dose–response relationship for paclitaxel. In all studies, renal NE content was determined by liquid chromatography–mass spectrometry. Results: Renal NE was depleted 3 and 7 days after surgical denervation. Renal NE was also depleted by periadventitial delivery of all agents tested (hypertonic saline, salicylic acid, guanethidine, and paclitaxel). A dose response was observed after the application of 150 μL of 10 −5  M through 10 −2  M paclitaxel. Conclusion: We developed a rat model in which depletion of renal NE was used to determine the efficacy of renal denervation after perivascular renal artery drug/chemical delivery. We validated this model by demonstrating the efficacy of the neurotoxic agents hypertonic saline, salicylic acid, and guanethidine and increasing doses of paclitaxel

  14. Chemical renal denervation in the rat.

    Science.gov (United States)

    Consigny, Paul M; Davalian, Dariush; Donn, Rosy; Hu, Jie; Rieser, Matthew; Stolarik, Deanne

    2014-02-01

    The recent success of renal denervation in lowering blood pressure in drug-resistant hypertensive patients has stimulated interest in developing novel approaches to renal denervation including local drug/chemical delivery. The purpose of this study was to develop a rat model in which depletion of renal norepinephrine (NE) could be used to determine the efficacy of renal denervation after the delivery of a chemical to the periadventitial space of the renal artery. Renal denervation was performed on a single renal artery of 90 rats (n = 6 rats/group). The first study determined the time course of renal denervation after surgical stripping of a renal artery plus the topical application of phenol in alcohol. The second study determined the efficacy of periadventitial delivery of hypertonic saline, guanethidine, and salicylic acid. The final study determined the dose-response relationship for paclitaxel. In all studies, renal NE content was determined by liquid chromatography-mass spectrometry. Renal NE was depleted 3 and 7 days after surgical denervation. Renal NE was also depleted by periadventitial delivery of all agents tested (hypertonic saline, salicylic acid, guanethidine, and paclitaxel). A dose response was observed after the application of 150 μL of 10(-5) M through 10(-2) M paclitaxel. We developed a rat model in which depletion of renal NE was used to determine the efficacy of renal denervation after perivascular renal artery drug/chemical delivery. We validated this model by demonstrating the efficacy of the neurotoxic agents hypertonic saline, salicylic acid, and guanethidine and increasing doses of paclitaxel.

  15. Sequential Scintigraphy in Renal Transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Winkel, K. zum; Harbst, H.; Schenck, P.; Franz, H. E.; Ritz, E.; Roehl, L.; Ziegler, M.; Ammann, W.; Maier-Borst, W. [Institut Fuer Nuklearmedizin, Deutsches Krebsforschungszentrum, Heidelberg, Federal Republic of Germany (Germany)

    1969-05-15

    Based on experience gained from more than 1600 patients with proved or suspected kidney diseases and on results on extended studies with dogs, sequential scintigraphy was performed after renal transplantation in dogs. After intravenous injection of 500 {mu}Ci. {sup 131}I-Hippuran scintiphotos were taken during the first minute with an exposure time of 15 sec each and thereafter with an exposure of 2 min up to at least 16 min.. Several examinations were evaluated digitally. 26 examinations were performed on 11 dogs with homotransplanted kidneys. Immediately after transplantation the renal function was almost normal arid the bladder was filled in due time. At the beginning of rejection the initial uptake of radioactive Hippuran was reduced. The intrarenal transport became delayed; probably the renal extraction rate decreased. Corresponding to the development of an oedema in the transplant the uptake area increased in size. In cases of thrombosis of the main artery there was no evidence of any uptake of radioactivity in the transplant. Similar results were obtained in 41 examinations on 15 persons. Patients with postoperative anuria due to acute tubular necrosis showed still some uptake of radioactivity contrary to those with thrombosis of the renal artery, where no uptake was found. In cases of rejection the most frequent signs were a reduced initial uptake and a delayed intrarenal transport of radioactive Hippuran. Infarction could be detected by a reduced uptake in distinct areas of the transplant. (author)

  16. Contemporary treatment of renal tumors

    DEFF Research Database (Denmark)

    Nisen, Harry; Järvinen, Petrus; Fovaeus, Magnus

    2017-01-01

    Objective: The five Nordic countries comprise 25 million people, and have similar treatment traditions and healthcare systems. To take advantage of these similarities, a collaborative group (Nordic Renal Cancer Group, NORENCA) was founded in 2015. Materials and methods: A questionnaire of 17...

  17. Novel genes in renal aging

    NARCIS (Netherlands)

    Noordmans, Gerda Anke

    2015-01-01

    Renal aging is characterized by structural changes and functional decline. These changes make the elderly more vulnerable to chronic kidney disease, hypertension, and cardiovascular disease. Furthermore, they also make it more difficult to cope with stress factors, such as dehydration, toxicity, and

  18. Renal involvement in Gaucher's disease.

    Science.gov (United States)

    Siegal, A.; Gutman, A.; Shapiro, M. S.; Griffel, B.

    1981-01-01

    A patient with chronic Gaucher's disease is described who developed glomerulopathy 24 years after splenectomy terminating in renal failure. The pathological changes of this very rare complication of Gaucher's disease are described. The few similar cases reported in the literature are reviewed and the possible pathogenetic pathways discussed. Images Fig. 1 Fig. 2 Fig. 3 PMID:7301691

  19. The Radiology of Renal Trauma

    African Journals Online (AJOL)

    1974-05-15

    May 15, 1974 ... Retrograde pyelography was performed in 3 patients and renal angio- graphy in 22. Of the 210 cases referred, abnormal radio- logical signs were observed in 112. All the radiological in- vestigations were reviewed to assess the frequency of the various findings. RESULTS. The Plain Film of the Abdomen.

  20. Renal sympathetic denervation in hypertension.

    Science.gov (United States)

    Doumas, Michael; Faselis, Charles; Papademetriou, Vasilios

    2011-11-01

    Despite the abundance of antihypertensive drugs, resistant hypertension remains a major clinical problem. Recent technological advances render interventional management of resistant hypertension one of the hottest topics in the hypertension field. The aim of this review is to present the pathophysiologic background and the mechanisms mediating blood pressure reduction after renal sympathetic denervation, to analyze recent findings with this fascinating approach and to critically suggest future research directions. Catheter-based, ablation-induced renal sympathetic denervation was initially studied in 45 patients with resistant hypertension in a proof-of-concept study. Impressive blood pressure reductions of about 30/15  mmHg were achieved at 6 months, without serious complications. A second, controlled, randomized (but not blinded) study confirmed the results, verifying the efficacy and safety of the procedure. A recent report revealed the 2-year durability of blood pressure reduction. Data published so far indicate that ablation-induced renal denervation is a feasible, effective, and well tolerated interventional approach for the management of resistant hypertension. The groundbreaking studies of renal denervation in drug-resistant hypertension pave the way for further research in other disease conditions in which sympathetic overactivity seems to play a critical role. This initial wave of enthusiasm needs to be followed by rigorous investigation, for the proper identification of the potential and the limitations, indications, and contraindications of this approach.

  1. More about... renal and urology

    African Journals Online (AJOL)

    [3,4]. Although the incidence of ESRD is high in the elderly, progression to renal failure tends to be low.[3[. The Kidney Disease .... to loosely it will fall off. • When ulceration occurs, the patient needs to stop using the urinary sheath .... If the patient has a history of retrograde ejaculation, it is necessary to prepare the bladder by ...

  2. Metastatic renal cell carcinoma management

    Directory of Open Access Journals (Sweden)

    Flavio L. Heldwein

    2009-06-01

    Full Text Available PURPOSE: To assess the current treatment of metastatic renal cell carcinoma, focusing on medical treatment options. MATERIAL AND METHODS: The most important recent publications have been selected after a literature search employing PubMed using the search terms: advanced and metastatic renal cell carcinoma, anti-angiogenesis drugs and systemic therapy; also significant meeting abstracts were consulted. RESULTS: Progress in understanding the molecular basis of renal cell carcinoma, especially related to genetics and angiogenesis, has been achieved mainly through of the study of von Hippel-Lindau disease. A great variety of active agents have been developed and tested in metastatic renal cell carcinoma (mRCC patients. New specific molecular therapies in metastatic disease are discussed. Sunitinib, Sorafenib and Bevacizumab increase the progression-free survival when compared to therapy with cytokines. Temsirolimus increases overall survival in high-risk patients. Growth factors and regulatory enzymes, such as carbonic anhydrase IX may be targets for future therapies. CONCLUSIONS: A broader knowledge of clear cell carcinoma molecular biology has permitted the beginning of a new era in mRCC therapy. Benefits of these novel agents in terms of progression-free and overall survival have been observed in patients with mRCC, and, in many cases, have become the standard of care. Sunitinib is now considered the new reference first-line treatment for mRCC. Despite all the progress in recent years, complete responses are still very rare. Currently, many important issues regarding the use of these agents in the management of metastatic renal cancer still need to be properly addressed.

  3. Live Donor Renal Anatomic Asymmetry and Posttransplant Renal Function.

    Science.gov (United States)

    Tanriover, Bekir; Fernandez, Sonalis; Campenot, Eric S; Newhouse, Jeffrey H; Oyfe, Irina; Mohan, Prince; Sandikci, Burhaneddin; Radhakrishnan, Jai; Wexler, Jennifer J; Carroll, Maureen A; Sharif, Sairah; Cohen, David J; Ratner, Lloyd E; Hardy, Mark A

    2015-08-01

    Relationship between live donor renal anatomic asymmetry and posttransplant recipient function has not been studied extensively. We analyzed 96 live kidney donors, who had anatomical asymmetry (>10% renal length and/or volume difference calculated from computerized tomography angiograms) and their matching recipients. Split function differences (SFD) were quantified with technetium-dimercaptosuccinic acid renography. Implantation biopsies at time 0 were semiquantitatively scored. A comprehensive model using donor renal volume adjusted to recipient weight (Vol/Wgt), SFD, and biopsy score was used to predict recipient estimated glomerular filtration rate (eGFR) at 1 year. Primary analysis consisted of a logistic regression model of outcome (odds of developing eGFR>60 mL/min/1.73 m(2) at 1 year), a linear regression model of outcome (predicting recipient eGFR at one-year, using the chronic kidney disease-epidemiology collaboration formula), and a Monte Carlo simulation based on the linear regression model (N=10,000 iterations). In the study cohort, the mean Vol/Wgt and eGFR at 1 year were 2.04 mL/kg and 60.4 mL/min/1.73 m(2), respectively. Volume and split ratios between 2 donor kidneys were strongly correlated (r = 0.79, P 10%) were not different (P = 0.190). On multivariate models, only Vol/Wgt was significantly associated with higher odds of having eGFR > 60 mL/min/1.73 m (odds ratio, 8.94, 95% CI 2.47-32.25, P = 0.001) and had a strong discriminatory power in predicting the risk of eGFR less than 60 mL/min/1.73 m(2) at 1 year [receiver operating curve (ROC curve), 0.78, 95% CI, 0.68-0.89]. In the presence of donor renal anatomic asymmetry, Vol/Wgt appears to be a major determinant of recipient renal function at 1 year after transplantation. Renography can be replaced with CT volume calculation in estimating split renal function.

  4. Microwave treatment of renal cell carcinoma adjacent to renal sinus

    International Nuclear Information System (INIS)

    Gao, Yongyan; Liang, Ping; Yu, Xiaoling; Yu, Jie; Cheng, Zhigang; Han, Zhiyu; Duan, Shaobo; Huang, Hui

    2016-01-01

    Highlights: • This study shows US-guided microwave ablation appears to be a promising method to treat renal cell carcinoma adjacent to renal sinus. • The estimated 1-, 3- and 5-year RCC-related survival were 100%, 93.3% and 93.3%, respectively. • The estimated 1-, 3- and 5-year overall survival were 97.1%, 87.8%, 83.6%, respectively. • For patients with RCC ≤4 cm, initial ablation success was 100% (29/29) and the estimated 5-year disease-free survival were 81.5%. - Abstract: Purpose: To evaluate the efficacy and safety of ultrasound (US)-guided percutaneous microwave ablation (MWA) for renal cell carcinoma (RCC) adjacent to renal sinus. Materials and methods: This retrospective study included 41 patients who underwent US-guided percutaneous MWA of 41 RCCs adjacent to the renal sinus from April 2006 to December 2015. Contrast-enhanced images of US and computed tomography (CT) or magnetic resonance (MR) imaging were performed at pre-ablation and 1 day, 1 month, 3 months, and every 6 months after ablation. Initial ablation success (IAS), disease-free survival (DFS), RCC-related survival (RRS), and overall survival (OS) were recorded at the follow-up visits. Results: IAS was achieved in 92.7% (38/41) of the study subjects. The IAS significantly differed between patients with RCCs ≤4 cm (100%, 29/29) and RCCs >4 cm (75%, 9/12, p = 0.021). During the median follow-up of 37.6 (range, 3.0–97.3) months, the estimated 1-, 3-, and 5-year DFS of patients with an initial tumor of ≤4 cm were 100%, 89.7%, and 81.5%, respectively. The 1-, 3-, and 5-year RRS were 100%, 93.3%, and 93.3%, respectively. The 1-, 3-, and 5-year OS were 97.1%, 87.8%, and 83.6%, respectively. The multivariate analysis using the Cox proportional hazard model revealed no independent predictor of recurrence among all the variables. There were no MWA-related deaths among the study subjects. One patient developed a retroperitoneal abscess after ablation. Conclusion: US-guided percutaneous MWA

  5. Microwave treatment of renal cell carcinoma adjacent to renal sinus

    Energy Technology Data Exchange (ETDEWEB)

    Gao, Yongyan, E-mail: gaoyongyan7@163.com [Department of Interventional Ultrasound, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853 (China); Department of Ultrasound, The General Hospital of Chinese People’s Armed Police Forces, 69 Yongding Road, Beijing, 100039 (China); Liang, Ping, E-mail: liangping301@hotmail.com [Department of Interventional Ultrasound, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853 (China); Yu, Xiaoling, E-mail: 784107477@qq.com [Department of Interventional Ultrasound, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853 (China); Yu, Jie, E-mail: 1411495161@qq.com [Department of Interventional Ultrasound, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853 (China); Cheng, Zhigang, E-mail: 13691367317@163.com [Department of Interventional Ultrasound, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853 (China); Han, Zhiyu, E-mail: hanzhiyu122@163.com [Department of Interventional Ultrasound, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853 (China); Duan, Shaobo, E-mail: Dustin2662@163.com [Department of Interventional Ultrasound, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853 (China); Huang, Hui, E-mail: 309hh@sina.com [Department of Interventional Ultrasound, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853 (China)

    2016-11-15

    Highlights: • This study shows US-guided microwave ablation appears to be a promising method to treat renal cell carcinoma adjacent to renal sinus. • The estimated 1-, 3- and 5-year RCC-related survival were 100%, 93.3% and 93.3%, respectively. • The estimated 1-, 3- and 5-year overall survival were 97.1%, 87.8%, 83.6%, respectively. • For patients with RCC ≤4 cm, initial ablation success was 100% (29/29) and the estimated 5-year disease-free survival were 81.5%. - Abstract: Purpose: To evaluate the efficacy and safety of ultrasound (US)-guided percutaneous microwave ablation (MWA) for renal cell carcinoma (RCC) adjacent to renal sinus. Materials and methods: This retrospective study included 41 patients who underwent US-guided percutaneous MWA of 41 RCCs adjacent to the renal sinus from April 2006 to December 2015. Contrast-enhanced images of US and computed tomography (CT) or magnetic resonance (MR) imaging were performed at pre-ablation and 1 day, 1 month, 3 months, and every 6 months after ablation. Initial ablation success (IAS), disease-free survival (DFS), RCC-related survival (RRS), and overall survival (OS) were recorded at the follow-up visits. Results: IAS was achieved in 92.7% (38/41) of the study subjects. The IAS significantly differed between patients with RCCs ≤4 cm (100%, 29/29) and RCCs >4 cm (75%, 9/12, p = 0.021). During the median follow-up of 37.6 (range, 3.0–97.3) months, the estimated 1-, 3-, and 5-year DFS of patients with an initial tumor of ≤4 cm were 100%, 89.7%, and 81.5%, respectively. The 1-, 3-, and 5-year RRS were 100%, 93.3%, and 93.3%, respectively. The 1-, 3-, and 5-year OS were 97.1%, 87.8%, and 83.6%, respectively. The multivariate analysis using the Cox proportional hazard model revealed no independent predictor of recurrence among all the variables. There were no MWA-related deaths among the study subjects. One patient developed a retroperitoneal abscess after ablation. Conclusion: US-guided percutaneous MWA

  6. “Transcollateral” Renal Angioplasty for a Completely Occluded Renal Artery

    International Nuclear Information System (INIS)

    Chandra, Subash; Chadha, Davinder S.; Swamy, Ajay

    2011-01-01

    Percutaneous transluminal renal angioplasty with stenting has been effective in the control of hypertension, renal function, and pulmonary edema caused by atherosclerotic renal artery stenosis. However, the role of the procedure has not been fully established in the context of chronic total occlusion of renal artery. We report the successful use of this procedure in 57-year-old male patient who reported for evaluation of a recent episode of accelerated hypertension. A renal angiogram in this patient showed ostial stenosis of the right renal artery, which was filling by way of the collateral artery. Renal angioplasty for chronic total occlusion of right renal artery was successfully performed in a retrograde fashion through a collateral artery, thereby leading to improvement of renal function and blood pressure control.

  7. Superselective transcatheter renal arterial embolization for acute renal bleeding in patients with renal insufficiency: its clinical efficacy and safety

    International Nuclear Information System (INIS)

    Hu Tingyang; Zhou Bing; Yu Wenqiang; Luo Zuyan; Mao Yingmin; Chen Fanghong; Li Bo; Yuan Jianhua

    2010-01-01

    Objective: To discuss the clinical efficacy and complications of super selective renal arterial embolization in treating acute renal arterial bleeding in patients with renal insufficiency, and to evaluate the influence of the treatment on the renal function. Methods: During the period of January 2000 December 2009, super selective renal arterial embolization was performed in our institution for acute renal bleeding in 13 patients with renal insufficiency. The complete clinical and imaging materials of all patients were properly collected. The clinical effectiveness, the renal function, the extent of embolization and the complications were observed and the relationship between each other was analyzed. Results: The embolization procedure was successfully completed in all patients with a technical success rate of 100%. The mean embolized territory was 22% of a single kidney. Three days after the procedure, the hemoglobin level, hematocrit, blood pressure and heart rate were considerably improved in all patients. Compared to the corresponding preoperative data, all the differences were statistically significant (P 0.05), while the blood urea nitrogen was markedly decreased (P=0.011). Post embolization syndrome occurred in 5 patients and progressive aggravation of the renal function was observed in one patient, who had to receive hemodialysis finally. The embolized territory in patients occurring complications was larger than that in patients without occurring complications (U=1.500, P=0.006). Conclusion: Super selective renal arterial embolization is an effective and safe treatment for acute renal arterial bleeding in patients with renal insufficiency, the therapy will not significantly worsen the renal function. Appropriate and reasonable extent of embolization, as small as possible, is the key point for reducing the complications. (authors)

  8. Renal replacement therapy in sepsis-induced acute renal failure

    Directory of Open Access Journals (Sweden)

    Rajapakse Senaka

    2009-01-01

    Full Text Available Acute renal failure (ARF is a common complication of sepsis and carries a high mortality. Renal replacement therapy (RRT during the acute stage is the mainstay of therapy. Va-rious modalities of RRT are available. Continuous RRT using convective methods are preferred in sepsis-induced ARF, especially in hemodynamically unstable patients, although clear evidence of benefit over intermittent hemodialysis is still not available. Peritoneal dialysis is clearly inferior, and is not recommended. Early initiation of RRT is probably advantageous, although the optimal timing of dialysis is yet unknown. Higher doses of RRT are more likely to be beneficial. Use of bio-compatible membranes and bicarbonate buffer in the dialysate are preferred. Anticoagulation during dialysis must be carefully adjusted and monitored.

  9. Renal and post-renal causes of acute renal failure in children

    International Nuclear Information System (INIS)

    Jamal, A.; Ramzan, A.

    2004-01-01

    Objective: To identify the causes of acute renal failure (ARF) in pediatric population along with the identification of the age and gender most affected by the failure. Subjects and Methods: The study included children under the age of 12 years who presented with signs and symptoms suggestive of ARF (oliguria/anuria, vomiting, acidotic breathing etc.) along with raised blood urea nitrogen (BUN) serum creatinine and metabolic acidosis as shown by arterial blood gases (ABGs). Patients were divided into two group on the basis of age; group A consisting of 0-2 years and group B from >2 years. Patients presenting with transient pre-renal azotaemia were excluded from the study. After providing initial emergency cover, detailed history, physical examination and investigations were carried out according to a proforma specially designed to ascertain the cause of ARF. Patients were managed for ARF as per standard recommendations and investigations completed or repeated as and when required. Results: A total of 119 patients with ARF were admitted in the ward over a period of two years constituting 1.36% of the total admissions and 16.39% of the admissions due to renal pathology. Mean age of presentation was 4.5 years 16.7% of the patients under the age of 5 years. Male predominance was noted in all ages with an overall male to female ratio of 2.3:1. Most common cause leading to ARF in younger age group was found to be hemolytic uremic syndrome [25(54.34%)] followed by septicemia [7(15.21 %)]. In older patients renal calculus disease was the most common [22(30.13%)] underlying pathology followed by pre-existing, undiagnosed chronic renal failure [16(21.91 %)]. Conclusion: ARF is fairly cotton in children especially under the age of 5 years showing a male predominance. More than 90% of the cases can be prevented by improving primary health care and by early and prompt treatment of infections. (author)

  10. Microwave treatment of renal cell carcinoma adjacent to renal sinus.

    Science.gov (United States)

    Gao, Yongyan; Liang, Ping; Yu, Xiaoling; Yu, Jie; Cheng, Zhigang; Han, Zhiyu; Duan, Shaobo; Huang, Hui

    2016-11-01

    To evaluate the efficacy and safety of ultrasound (US)-guided percutaneous microwave ablation (MWA) for renal cell carcinoma (RCC) adjacent to renal sinus. This retrospective study included 41 patients who underwent US-guided percutaneous MWA of 41 RCCs adjacent to the renal sinus from April 2006 to December 2015. Contrast-enhanced images of US and computed tomography (CT) or magnetic resonance (MR) imaging were performed at pre-ablation and 1day, 1 month, 3 months, and every 6 months after ablation. Initial ablation success (IAS), disease-free survival (DFS), RCC-related survival (RRS), and overall survival (OS) were recorded at the follow-up visits. IAS was achieved in 92.7% (38/41) of the study subjects. The IAS significantly differed between patients with RCCs ≤4cm (100%, 29/29) and RCCs >4cm (75%, 9/12, p=0.021). During the median follow-up of 37.6 (range, 3.0-97.3) months, the estimated 1-, 3-, and 5-year DFS of patients with an initial tumor of ≤4cm were 100%, 89.7%, and 81.5%, respectively. The 1-, 3-, and 5-year RRS were 100%, 93.3%, and 93.3%, respectively. The 1-, 3-, and 5-year OS were 97.1%, 87.8%, and 83.6%, respectively. The multivariate analysis using the Cox proportional hazard model revealed no independent predictor of recurrence among all the variables. There were no MWA-related deaths among the study subjects. One patient developed a retroperitoneal abscess after ablation. US-guided percutaneous MWA appears to be a promising method for RCCs adjacent to renal sinus, especially for tumors ≤4cm. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Does Renal Artery Supply Indicate Treatment Success of Renal Denervation?

    International Nuclear Information System (INIS)

    Schmid, Axel; Ditting, Tilmann; Sobotka, Paul A.; Veelken, Roland; Schmieder, Roland E.; Uder, Michael; Ott, Christian

    2013-01-01

    PurposeRenal denervation (RDN) emerged as an innovative interventional antihypertensive therapy. With the exception of pretreatment blood pressure (BP) level, no other clear predictor for treatment efficacy is yet known. We analyzed whether the presence of multiple renal arteries has an impact on BP reduction after RDN.MethodsFifty-three patients with treatment-resistant hypertension (office BP ≥ 140/90 mmHg and 24-h ambulatory BP monitoring (≥130/80 mmHg) underwent bilateral catheter-based RDN. Patients were stratified into one-vessel (OV) (both sides) and at least multivessel (MV) supply at one side. Both groups were treated on one vessel at each side; in case of multiple arteries, only the dominant artery was treated on each side.ResultsBaseline clinical characteristics (including BP, age, and estimated glomerular filtration rate) did not differ between patients with OV (n = 32) and MV (n = 21). Office BP was significantly reduced in both groups at 3 months (systolic: OV −15 ± 23 vs. MV −16 ± 20 mmHg; diastolic: OV −10 ± 12 vs. MV −8 ± 11 mmHg, both p = NS) as well as 6 months (systolic: OV −18 ± 18 vs. MV −17 ± 22 mmHg; diastolic: OV −10 ± 10 vs. −10 ± 12 mmHg, both p = NS) after RDN. There was no difference in responder rate (rate of patients with office systolic BP reduction of at least 10 mmHg after 6 months) between the groups.ConclusionIn patients with multiple renal arteries, RDN of one renal artery—namely, the dominant one—is sufficient to induce BP reduction in treatment-resistant hypertension

  12. Does Renal Artery Supply Indicate Treatment Success of Renal Denervation?

    Energy Technology Data Exchange (ETDEWEB)

    Schmid, Axel, E-mail: axel.schmid@uk-erlangen.de [University of Erlangen-Nuremberg, Department of Radiology (Germany); Ditting, Tilmann, E-mail: tilmann.ditting@uk-erlangen.de [University of Erlangen-Nuremberg, Department of Nephrology and Hypertension (Germany); Sobotka, Paul A., E-mail: sobotka@alumni.stanford.edu [Ohio State University (United States); Veelken, Roland, E-mail: roland.veelken@uk-erlangen.de; Schmieder, Roland E., E-mail: roland.schmieder@uk-erlangen.de [University of Erlangen-Nuremberg, Department of Nephrology and Hypertension (Germany); Uder, Michael, E-mail: michael.uder@uk-erlangen.de [University of Erlangen-Nuremberg, Department of Radiology (Germany); Ott, Christian, E-mail: christian.ott@uk-erlangen.de [University of Erlangen-Nuremberg, Department of Nephrology and Hypertension (Germany)

    2013-08-01

    PurposeRenal denervation (RDN) emerged as an innovative interventional antihypertensive therapy. With the exception of pretreatment blood pressure (BP) level, no other clear predictor for treatment efficacy is yet known. We analyzed whether the presence of multiple renal arteries has an impact on BP reduction after RDN.MethodsFifty-three patients with treatment-resistant hypertension (office BP {>=} 140/90 mmHg and 24-h ambulatory BP monitoring ({>=}130/80 mmHg) underwent bilateral catheter-based RDN. Patients were stratified into one-vessel (OV) (both sides) and at least multivessel (MV) supply at one side. Both groups were treated on one vessel at each side; in case of multiple arteries, only the dominant artery was treated on each side.ResultsBaseline clinical characteristics (including BP, age, and estimated glomerular filtration rate) did not differ between patients with OV (n = 32) and MV (n = 21). Office BP was significantly reduced in both groups at 3 months (systolic: OV -15 {+-} 23 vs. MV -16 {+-} 20 mmHg; diastolic: OV -10 {+-} 12 vs. MV -8 {+-} 11 mmHg, both p = NS) as well as 6 months (systolic: OV -18 {+-} 18 vs. MV -17 {+-} 22 mmHg; diastolic: OV -10 {+-} 10 vs. -10 {+-} 12 mmHg, both p = NS) after RDN. There was no difference in responder rate (rate of patients with office systolic BP reduction of at least 10 mmHg after 6 months) between the groups.ConclusionIn patients with multiple renal arteries, RDN of one renal artery-namely, the dominant one-is sufficient to induce BP reduction in treatment-resistant hypertension.

  13. Renal oncocytoma in a cat with chronic renal failure

    OpenAIRE

    Sora Lee; Hyun-Ji Choi; Han-Byul Lee; Sung-Min Jo; Ji-hye Mun; Woo-Chan Son

    2017-01-01

    Case summary A 9-year-old male neutered domestic shorthair cat presented with anorexia. Ultrasonography showed an irregularly shaped hypoechoic mass in the cranial pole of the right kidney. Ultrasound-guided fine-needle aspiration of the renal mass was performed. Cytology revealed moderate cellularity smears composed of epithelial cell clusters, which consisted of an exclusive population of oncocytic cells seen in sheets and papillary clusters along with abundant single cells. A moderate-to-a...

  14. [Orthotopic renal transplant: our experience].

    Science.gov (United States)

    De Gracia, R; Jiménez, C; Gil, F; Escuin, F; Tabernero, A; Sanz, A; Hidalgo, L

    2007-01-01

    Orthotopic renal transplant (ORT) is useful in cases of severe atherosclerosis, heterotopic bilateral transplant, unsuitable pelvic vessels and in aortic thrombosis, but it is not available in all the institutions and it is only realized of exceptional form. To review the indication, surgical technique and outcome of the ORT at our hospital. The studied included five cases between January 1990 and December 2005. We analyzed several variables: demographic characteristics, characteristics of the donor, ischemia times, evolution of renal function and morbi-mortality associated. Left ORT was performed in three men and two women. Mean patient age was 52+/-5 years, all the patients received kidneys from cadaveric donors. Mean creatinine and urea one month postoperative were 2.2+/-0.72 mg/dl and 103+/-17.2 mg/dl and at 6 months postoperative were 1.8+/-0.59 mg/dl and 78+/-14 mg/dl respectively. Immediately all patients received prophylaxis with low molecular weight heparin but it was indicated antiaggregation to two patients when they left the hospital, anticoagulation to two patients and to one of them was decided to anticoagulation nor antiagregation for history of bled digestive. A patient died for bleeding episode at level of the renal graft six months after the transplant, she was in treatment with dicumarinics, they were indicated by venous deep thrombosis in right leg. The survival a year is 80 % of the graft and the patient. Only two patients returned to hospital later, one of them for presenting an episode of diverticulitis and the other one for renal obstructive failure that needed laying of catheter pig-tail. Four patients presented stenosis of renal native vassels detected in control magnetic nuclear resonance, not symptomatic. There are two patients who take more than three years transplanted with renal stable function (creatinina 1.3 mg/dl and 1.4 mg/dl respectively). ORT is an excellent option in patients with co-morbidity increased for atherosclerosis and

  15. Does complete renal denervation translate into superior clinical outcomes? Lessons learned from denervation of accessory renal arteries

    OpenAIRE

    Mendelsohn, Farrell O.

    2014-01-01

    Pre-clinical studies of renal denervation would suggest that the extent of renal nerve injury correlates with outcomes. The “completeness” of renal nerve injury following renal denervation correlates with treatment-based variables such as the depth of ablation, the number of ablations along the length of the artery, and the number of renal arteries successfully ablated. Renal denervation techniques targeting only main renal arteries may lead to suboptimal results in patients with accessory re...

  16. Focus on renal congestion in heart failure.

    Science.gov (United States)

    Afsar, Baris; Ortiz, Alberto; Covic, Adrian; Solak, Yalcin; Goldsmith, David; Kanbay, Mehmet

    2016-02-01

    Hospitalizations due to heart failure are increasing steadily despite advances in medicine. Patients hospitalized for worsening heart failure have high mortality in hospital and within the months following discharge. Kidney dysfunction is associated with adverse outcomes in heart failure patients. Recent evidence suggests that both deterioration in kidney function and renal congestion are important prognostic factors in heart failure. Kidney congestion in heart failure results from low cardiac output (forward failure), tubuloglomerular feedback, increased intra-abdominal pressure or increased venous pressure. Regardless of the cause, renal congestion is associated with increased morbidity and mortality in heart failure. The impact on outcomes of renal decongestion strategies that do not compromise renal function should be explored in heart failure. These studies require novel diagnostic markers that identify early renal damage and renal congestion and allow monitoring of treatment responses in order to avoid severe worsening of renal function. In addition, there is an unmet need regarding evidence-based therapeutic management of renal congestion and worsening renal function. In the present review, we summarize the mechanisms, diagnosis, outcomes, prognostic markers and treatment options of renal congestion in heart failure.

  17. Retrograde Renal Cooling to Minimize Ischemia

    Directory of Open Access Journals (Sweden)

    Janet L. Colli

    2013-01-01

    Full Text Available Objective: During partial nephrectomy, renal hypothermia has been shown to decrease ischemia induced renal damage which occurs from renal hilar clamping. In this study we investigate the infusion rate required to safely cool the entire renal unit in a porcine model using retrograde irrigation of iced saline via dual-lumen ureteral catheter. Materials and Methods: Renal cortical, renal medullary, bowel and rectal temperatures during retrograde cooling in a laparoscopic porcine model were monitored in six renal units. Iced normal saline was infused at 300 cc/hour, 600 cc/hour, 1000 cc/hour and gravity (800 cc/hour for 600 seconds with and without hilar clamping. Results: Retrograde cooling with hilar clamping provided rapid medullary renal cooling and significant hypothermia of the medulla and cortex at infusion rates ≥ 600 cc/hour. With hilar clamping, cortical temperatures decreased at -0.9° C/min. reaching a threshold temperature of 26.9° C, and medullary temperatures decreased at -0.90 C/min. reaching a temperature of 26.1° C over 600 seconds on average for combined data at infusion rates ≥ 600 cc/hour. The lowest renal temperatures were achieved with gravity infusion. Without renal hilum clamping, retrograde cooling was minimal at all infusion rates. Conclusions: Significant renal cooling by gravity infusion of iced cold saline via a duel lumen catheter with a clamped renal hilum was achieved in a porcine model. Continuous retrograde irrigation with iced saline via a two way ureteral catheter may be an effective method to induce renal hypothermia in patients undergoing robotic assisted and/or laparoscopic partial nephrectomy.

  18. Renal aneurysm and arteriovenous fistula

    International Nuclear Information System (INIS)

    Savastano, S.; Feltrin, G.P.; Miotto, D.; Chiesura-Corona, M.; Padua Univ.

    1990-01-01

    Embolization was performed in six patients with renal artery aneurysms (n=2) and arteriovenous fistulas (AVF) (n=5). The aneurysms were observed in one patient with fibromuscular dysplasia and in another with Ehlers-Danlos syndrome. All the AVFs were intraparenchymal and secondary to iatrogenic trauma. Elective embolization was performed in five patients with good clinical results at follow-up between 1 and 9 years. Because of rupture of the aneurysm emergency embolization was attempted without success in the patient with Ehlers-Danlos syndrome, and nephrectomy was carried out. A postembolization syndrome complicated three procedures in which Gelfoam and polyvinyl alcohol were used; in two of these cases unexpected reflux of the particulate material occurred, resulting in limited undesired ablation of the ipsilateral renal parenchyma. Embolization is the most reliable and effective treatment for intrarenal vascular abnormalities since it minimizes the parenchymal damage. (orig.)

  19. Bone scintigraphy in renal osteopathy

    International Nuclear Information System (INIS)

    Hermann, H.J.; Gahl, G.; Freie Univ. Berlin

    1976-01-01

    25 patients with chronic renal disease are investigated. In 16 cases with conservative treatment the bone scintigram showed pathological uptake according to the creatinine level, mainly in the joints of iliosacrum, hip, knee and ankles. In three patients increased uptake in the skull was found. The bone uptake found by scintigraphy was highly pronounced in the patients treated by dialysis. The most frequently involved regions were the joints of iliocacrum and hip, facial cranium, skull, pelvis and metatarsus. The count-rate ratio of cranium to chest was significantly increased in 6 patients. The investigations 6 months later showed in 4 cases a further increase compared with the first values. Count-rates of the skull were found to be comparable to the highly increased uptake in Paget's disease. Bone scintigraphy is a suitable method to estimate semiquantitatively the bone turnover in renal disease. (orig.) [de

  20. Dynamic renal scintigraphy at hydronephrosis

    International Nuclear Information System (INIS)

    Petrov, T.; Chukov, I.; Svrakova, E.

    1998-01-01

    The aim of the study was to estimate the clinical relevance and accuracy of dynamic renal scintigraphy (DRS) in case of obstructed kidneys as hydronephrosis is among the complications at different renal diseases, like nephrolithiasis and urolithiasis. Twenty-one patients mainly with unilateral hydronephrosis were studied. DRS with 99m Tc-MAG3 or 99m Tc-EC was done and quantitative parameters of the morphological and functional status of every kidney were assessed. At 24 % of the patients accumulation curves typical for obstructed by hydronephrosis kidneys were obtained. At 38 % the type of renograms of the affected kidneys was intermediate one, closer to that at the cases with nephrosclerosis, with lower uptake and severe parenchymal changes. The rest 38 % of the cases showed normal renograms or slightly delayed downslope. DRS is a very precise and sensitive method for evaluation of the degree of kidney damage in cases with hydronephrosis