61. Department Of Anatomy - Academic Staff Page giving rise to developmental tumours such as Wilms' tumour, embryonal nephroblastoma. approachto growth control making use of a congenital genetic disease http://www.anat.cam.ac.uk/pages/staff/academic/schofield/

Academic Staff Paul N Schofield, MA DPhil University Senior Lecturer Growth factors and the control of stem cell growth Colleagues: Dr Sylvia Kocialkowski (Research Associate) Dr Daniel Catchpole (Research Associate) Ms Melanie Pye (Research Assistant) Ms Joanna Joyce (Graduate Student) Main Collaborators: Prof Wilhelm Engstrom (SLU, Uppsala, Sweden) Prof B. Perbal (Institut Curie, Paris) Dr Walter Zumkeller (Hamburg University) Prof Eamonn Maher (Clinical Genetics, Birmingham) Dr Catherine Boulter (Genetics, Cambridge) Main sources of funding: MRC, BBSRC, National Kidney Research Fund, The Wellcome Trust. Selected publications: The Insulin-like growth factor II gene is imprinted in human development and in Beckwith Wiedemann syndrome. Nature (Genetics) 4, 94-97. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. Journal of Medical Genetics 31, 749-753. IGF-II dependent autocrine growth in cell lines derived from renal tumours of childhood. Journal of Clinical Pathology (Molecular Pathology) 48, M333-M344.

62. EMedicine - Wilms Tumor : Article By Arnold C Paulino, MD Background Wilms tumor or nephroblastoma is the most common childhood abdominal tumorand BeckwithWiedemann syndrome (BWS), another congenital Wilms tumor http://www.emedicine.com/ped/topic2440.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Oncology Wilms Tumor Last Updated: February 27, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: nephroblastoma AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Arnold C Paulino, MD , Associate Professor, Departments of Radiation Oncology and Pediatrics, Emory Clinic and Children's Hospital of Atlanta Coauthor(s): Max J Coppes, MD, PhD , Professor, Departments of Oncology and Pediatrics, University of Calgary, Canada; Director, Children's Cancer Program, Tom Baker Cancer Center, Alberta Children's Hospital of Calgary, Canada Arnold C Paulino, MD, is a member of the following medical societies: American College of Radiology American Society for Therapeutic Radiology and Oncology American Society of Clinical Oncology , and Childrens Oncology Group Editor(s): Kathleen Sakamoto, MD

63. EMedicine - Aniridia In The Newborn : Article By Sophie Bakri, MD present, causing a reduction in visual acuity and congenital sensory nystagmus samedeletion is responsible for the development of Wilms tumor (nephroblastoma). http://www.emedicine.com/oph/topic317.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Ophthalmology Genetic Disorders Aniridia in the Newborn Last Updated: August 20, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: iris hypoplasia AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Sophie Bakri, MD , Staff Physician, Department of Ophthalmology, Lions Eye Institute, Albany Medical College Coauthor(s): John W Simon, MD , Chair, Department of Ophthalmology, Professor, Departments of Ophthalmology and Pediatrics, Albany Medical College Sophie Bakri, MD, is a member of the following medical societies: American Academy of Ophthalmology Editor(s): Gerhard W Cibis, MD , Director of Pediatric Ophthalmology Service, Clinical Professor, Department of Ophthalmology, University of Kansas; Director, Clinical Professor, Department of Ophthalmology, Children's Mercy Hospital, University of Missouri at Kansas City; Francisco Talavera, PharmD, PhD

64. Entrez-PubMed 36 weeks gestation) birth, and the occurrence of congenital malformations. KidneyNeoplasms/radiotherapy*; Male; nephroblastoma/radiotherapy*; Pregnancy; Pregnancy http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

65. FIRST  PUBLICATIONS  2001 -  ABSTRACTS question of the relationship between neurofibromatosis 1, nephroblastoma and epidermal andmental impairment, minor facial anomalies, congenital heart defects http://www.rusmedserv.com/genetics/newsynd/2001abs.htm

FIRST  PUBLICATIONS  2001 -  ABSTRACTS Al-Enesi S, Huber AM, Krafchik BR, Laxer RM. Inflammatory linear verrucous epidermal nevus and arthritis: A new association. J Pediatr 2001;138(4):602-4  Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare, chronic skin condition that begins in early childhood. We present two children with ILVEN and arthritis, a previously undescribed association. We discuss the relevance of this association and suggest appropriate management for this arthritis. Amor DJ, Delatycki MB, Gardner RJMcK, Storey E. Askmark H, Eeg-Olofsson KE, Johansson A, Nilsson P, Olsson Y, Aquilonius S-M. Parkinsonism and Neck Extensor Myopathy. A New Syndrome or Coincidental Findings? Arch Neurol. 2001;58(2):232-237 Background . Dropped head in parkinsonism has been attributed to dystonia or unbalanced muscle rigidity. To our knowledge, isolated neck extensor myopathy with parkinsonism has been described in only one patient. Objectives. To assess the occurrence of neck extension weakness resulting in dropped head in patients with parkinsonism and to explore whether the head drop might be the consequence of neck extensor myopathy. Patients and Methods. All patients who were evaluated because of parkinsonism in the Department of Neurology in our hospital between January 1, 1997, and December 31, 1999, and were found to have both parkinsonism and neck extension weakness resulting in head drop were studied. The patients underwent clinical examination, blood tests including the levels of creatine kinase and myoglobin and neurophysiological evaluation with needle electromyography and autonomic tests. Open biopsy on a neck muscle was performed in the patients who could cooperate.

66. Sitemap Of GPnotebook.co.uk abnormalities / HLADR7 / nitrates / hypermelanosis (congenital patchy) / purpuricrash in the treatment of myasthenia gravis / nephroblastoma / blood elements http://www.gpnotebook.co.uk/sitemap8.htm

This is the GPnotebook.co.uk sitemap, click here to go to the homepage. myoglobinuria jaw fracture 5 HT1 agonists choking (paediatric basic life support) ... neurofibromatosis type I

67. Alphabetic List Of Specific Diseases/Disorders Ischemia; Myocarditis; Myoclonus; Myopathies, Structural, congenital; Myopathies,Nemaline; Nephritis, Hereditary; nephroblastoma; Nephrosis; Nephrotic Syndrome; Nerve http://www.mic.ki.se/Diseases/alphalist.html

search help staff ... to entry page Alphabetical List of Specific Diseases/Disorders [ Click on a selected entry to go to the relevant MeSH page ] A B C D ... Z A Abscess Achondroplasia Acidosis Acne Rosacea ... Albinism (Skin Diseases ..) Albinism, Ocular Alcoholism Alexanders Disease Alkalosis ... Arthritis, Rheumatoid (Musculoskeletal Diseases) Arthritis Arthrogryposis Arthropathy, Neurogenic Arthropod Diseases ... AZOOR B Babesiosis Back Pain Bacteremia Baker's Cyst ... Bronchiolitis Obliterans Organizing Pneumonia (BOOP) Bronchitis Bronchopulmonary Dysplasia Brown (Tendon Sheath) Syndrome Brown-Sequard Syndrome ... Buruli Ulcer C Cafe-au-Lait Spots Caliciviridae Infections Campylobacter Infections Canavan Disease ... CHARGE Syndrome (not on MeSH) Charles Bonnet Syndrome Chediak-Higashi Syndrome Cheilitis Cheilitis Granulomatosa ... Chlamydia Infections (sexually transmitted) Cholangitis Cholecystitis Choledochal Cyst Cholelithiasis ... Cytomegalovirus Infections D Dandy-Walker Syndrome Darier Disease Death Decubitus Ulcer ... DiGeorge Syndrome (Thymic Dysplasia) Digestive System Neoplasms Diphtheria Diphyllobothriasis Diplopia ... Dizziness (Nervous System Diseases) Dog Diseases Donovanosis Down Syndrome Down Syndrome ... Dysautonomia, Familial

68. AJOL: Nigerian Quarterly Journal Of Hospital Medicine : Vol 9 No 1, 1999 We had 7 cases of purely sarcomatous nephroblastoma one of which is a In thisstudy, neither benign neoplasm nor congenital tumour (angiomyolipoma) was http://www.inasp.org.uk/ajol/journals/nqjhm/vol9no1abs.html

African Journals Online Nigerian Quarterly Journal of Hospital Medicine Issues Available About the Journal Abstracts (Volume 9 Number 1) ABSTRACTS The Effects of Malaria On Some Laboratory Parameters in Sierra Leonean Children ABSTRACT Forty two (42)blood samples were collected from children showing clinical symptoms of malaria Trophozoites and/or gametocytes of P. falciparum were identified by microscopic examination of giemsa stained films in 22 samples (52.4%). Haemaglobin (Hb), Glutamate Pyruvate Transaminase (GPT), Bilirubin, Glucose and Ketone concentrations of these parasitaemia samples were compared with those of a non equivalent control group (n-31) of healthy children who were matched for age and sex, as far as possible with malarious group. There was a significant difference in the mean Hb concentration between the patients and controls with values of 6.14mg/dl and 10.15mg/dl respectively. The PCV levels also showed a similar pattern (25.95% to 35.95%). Higher bilirubin (22.15 to 0.98mg/dl) and GPT (61.32 to 22.831U/Ml) levels in the patients indicates some degree of haemolysis of red cells and necrosis of liver cells. The plasma glucose levels were lower in the patient compared with the controls (2.60 to 4.96mmol/l). Ketones were detected in 13(59%) of the 22 samples which tested positive for malaria parasites and none in the control group. These variations in Haematological and Biochemical parameters should enhance our knowledge in the pathogenesis of malaria in Sierra Leonean children.

69. BJU International (March 2000), 85.s4 of bcl–2 and bax expression in patients with nephroblastoma Angiogenic growth inpatients with Wilms’ tumour syndromes associated with congenital anomalies http://www.bjui.org/85/s4/article/bju089-5.asp

Quick Search: You are in: Home Online Content List of Issues BJU International (March 2000), 85.s4 SESSION 5: Oncology Moderators: J Gearhart and J. Michon Expression of WT1 and CD44 variant proteins in nephroblastoma tumorigenesis Renal lesions not containing fat in children with tuberous sclerosis complex are not uniformly benign The role of conservative surgery in bladder/prostate rhabdomyosarcoma: an update of experience of the SIOP Adrenal cortical carcinoma in children: experience at the UCSF Wednesday June 7 Background Nephroblastoma tumorigenesis develops through a series of molecular genetic changes, providing putative markers for tumour progression. This study investigated the relation between expression of the tumour suppressor gene WT1 and the cell adhesion molecule CD44s and some of its splice variants, CD44v5, CD44v6 and CD44v10. Methods Results P Conclusions Expression of WT1 and CD44 variant proteins in nephroblastoma tumorigenesis Renal lesions not containing fat in children with tuberous sclerosis complex are not uniformly benign The role of conservative surgery in bladder/prostate rhabdomyosarcoma: an update of experience of the SIOP Adrenal cortical carcinoma in children: experience at the UCSF ... Wednesday June 7 Background Methods a a in situ Results Conclusion a a Expression of WT1 and CD44 variant proteins in nephroblastoma tumorigenesis Renal lesions not containing fat in children with tuberous sclerosis complex are not uniformly benign The role of conservative surgery in bladder/prostate rhabdomyosarcoma: an update of experience of the SIOP Adrenal cortical carcinoma in children: experience at the UCSF ... Wednesday June 7 M.A. Ghanem, T.H. van der Kwast*, J. den Hollander, K.M. Sudaryo*, M.H.A. Oomen, R.M. Nijman and G.J. van Steenbrugge

70. VADA GEZONDHEID En ZIEKTE - HEALTH And DISEASE A Case of Wilms' Tumor; Wilms' Tumor; nephroblastoma; Neuroblastoma See also congenitalEMYOPATHIE congenital MYOPATHY; congenital Myopathies Nemaline Myopathy; http://www.vada.nl/medisch/medneh.htm

VADA - GEZONDHEID en ZIEKTE HEALTH and DISEASE NE - NH OPGELET - ATTENTION Patienten en leken die raadgevingen/adviezen/informatie zoeken via deze verzameling links wordt dringend geadviseerd de verzamelde informatie te bespreken met de (behandelend) arts/specialist/hulpverlener. Patients and lay persons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. NECROSIS of the LIVER See also: LEVERAANDOENINGEN LIVER DISEASES See also: OSTEONECROSIS NECROTIZING FASCIITIS FLESH-EATING DISEASE See also: See also: GRAM-POSITIVE BACTERIAL INFECTIONS See also: STREPTOKOKKEN STREPTOCOCCAL INFECTIONS See also: FASCIITIS Streptococcus A - Necrotizing Fascitis US National Necrotizing Fasciitis Foundation Flesh-Eating Bacteria ... A 72 year old white woman .. (registration /no charge/ required on 1st visit) Emergency Med. BBS: Streptococcal necrotizing fascitis Eaten Alive: Necrotising Fasciitis in Canada, from New Scientist Fact Sheet Necrotizing Fasciitis Survivor ... Necrotizing Fasciitis Survivor Flesh-Eating Bacteria almost killed me, then it almost took my leg and destroyed my ankle. By the grace of God and excellent medical care, I am up and running literally! Group A Streptococcus Necrotizing Fasciitis of the Eyelids and Orbit (gruesome photos) Flesh-Eating Bacteria: Facts Behind the Bug Children with Chicken Pox at Risk ... Necrotizing Fasciitis, with case study

71. Health Ency.: Disease: Wilm's Tumor nephroblastoma; Kidney tumor. It is associated with certain congenital defectsincluding urinary tract abnormalities, absence of the iris (aniridia) and http://www.austin360.com/shared/health/adam/ency/article/001575.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease W Wilm's tumor See images Overview Symptoms Treatment Alternative names: Nephroblastoma; Kidney tumor Definition: Wilm's tumor is a cancerous tumor of the kidney that occurs in children. Causes and Risks Wilm's tumor is one of the most common intraabdominal tumors in children and the most common type of kidney tumor. The exact cause of tumor formation is unknown, but it probably develops in fetal tissue. It is associated with certain congenital defects including urinary tract abnormalities, absence of the iris (aniridia) and hemihypertrophy (enlargement of one side of the body), and shows an increased incidence among siblings and twins, which suggests a possible genetic cause. The tumor may become quite large, but usually remains encapsulated (self-enclosed). It may spread to other body tissues. The frequency of disease occurrence is estimated to be about 1 out of 200,000 to 250,000 children. The peak incidence is at 3 years old. Rarely, the tumor may be present in adults. Ency. home

72. THE LIGHTNING HYPERTEXT OF DISEASE. evolved after birth (f). papules and nodules in congenital nevi, especially roundednodule seen near the center is an early nephroblastoma compressing adjacent http://www.pathinfo.com/cgi-bin/lh.cgi?tx=larger

73. CancerLIT 707455 Microscopic features were consistent with adult nephroblastoma. 21137121 AU RommelD; Pirson Y TI - Medullary sponge kidneypart of a congenital syndrome. http://cancerweb.ncl.ac.uk/cancernet/cancerlit/707455.html

74. CancerLIT 703455 preoperative) chemotherapy in the treatment of this subtype of nephroblastoma, aretrospective Eleven of 63 evaluable children (17.5%) had a congenital anomaly http://cancerweb.ncl.ac.uk/cancernet/cancerlit/703455.html

75. Prahova Pediatric News : ABSTRACTS Malformative uropathies represent an important percentage of congenital abnormalitiesof Wilms’ tumor (nephroblastoma) is the second most common malignant http://members.tripod.com/PrahovaPediatricNews/p54.htm

Issue 2 Vol 2 August 1999 ABSTRACTS The study of Proteinurea in Idiopathic and Congenital Nephrotic Syndrome The nephrotic syndrome (NS) is the most common childhood glomerulopathy characterized by heavy proteinuria, hypoproteinureia, hyperlipidemia, oliguria and edema. The authors studied the quantitative and qualitative aspects and selectivity of proteinureia in childhood nephrotic syndrome (NS). The histopathological structure was also studied and it determined the diagnosis, treatment and prognosis of childhood NS. In conclusion the authors demonstrated that: NS is more frequent at 1-3 years old males; congenital NS appears at 1-3 months infants; their pathological medical history is associated with acute infection of upper respiratory tract and in rear cases with allergic symptoms (such as obstructive bronchitis, atopic dermatitis); in most of the cases proteinureia was heavy and glomerular; only one of the congenital NS as characterized by glomerulo-tubular proteinuria; idiopathic NS was characterized by a selectivity of high proteinureia; the appearance of the dimer-albumin factions was observed in idiopathic and cortico-sensitive NS;

76. Title Inflammatory bowel disease Hirschsprung's disease(congenital aganglionic megacolon)Bile Brain tumours Neuroblastoma Wilms tumour(nephroblastoma) Soft tissue http://www.sciencep.com/sciencep/publish/bookdetails.php?searchingbookid=6676

77. Empediatrics3 macular hypoplasia, optic nerve hypoplasia (75%). congenital cataracts, zonal lossof zonules. sporadic nonfamilial associated with Wilm’s tumor (nephroblastoma). http://mail.ml.usoms.poznan.pl/eyemanual/empediatrics3.htm

Department of Ophthalmology and Visual Sciences The Online Eye Manual / Pediatric Ophthalmology 3. Glaucoma Congenital Associations Aniridia 1/2 of all childhood glaucoma is secondary and acquired Congenital over 80% are diagnosed by 12 months of age tearing photophobia blepharospasm bilateral in 75% peripheral iris vessels iris processes high iris insertion corneal edema corneal enlargement Haab’s striae genetics most cases are sporadic genetic transmission is usually AR with incomplete penetrance affected parent has 5% chance of having affected child no hereditary relationship to POAG or steroid response measurements anesthetics lower IOP except ketamine, succinylcholine Descemet's breaks are often horizontal and should be drawn check axial length and refraction for myopia gonioscopy more difficult than adults wide indistinct ciliary body band thin anterior stroma at periphery with flat iris attachment look for iris insertion at or anterior to scleral spur trabecular meshwork is pale and may have a stippled orange-peel appearance Schwalbe’s line is indistinct 50% have trabecular meshwork dysgenesis (best prognosis) others with iris hypoplasia and malformation of collarette, analmous iris vessels (tunica vasculosa lentis or wandering iris vessels), and structural defects.

78. FitnessHeaven | Healthy Lifestyle Solutions a /li li a href= /res/adam/ency/article/001576.asp congenital nephrotic syndrome li li a href= /res/adam/ency/article/001575.asp nephroblastoma /a /li http://www.fitnessheaven.com/res/adam/ency/article/000457.asp

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79. Neurofibromatosis - NF Research - 2000 NF Research Newletter has a large epidermal nevus mixed with a plexiform neurofibroma and a nephroblastoma. (53) review the occurrence of macrodactyly, or congenital enlargement of http://www.nf.org/research/00research_newsletter.htm

2000 Research Newsletter General Reviews Several reviews were published on neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and related disorders (1-34). Neurofibromatosis Type 1 Clinical Features Ablon (49) reports on the parents' responses to their child's diagnosis of NF1 for 18 families in Northern California. Physicians' attention to the setting and style of disclosure, imparting appropriate and positive information, allowance of additional time for careful explanation, and rescheduling a follow-up appointment, may be able to more effectively assist parents in receiving and more positively adapting to their child's diagnosis. Origone et al. (50) discuss the genoa experience of prenatal diagnosis for NF1. Because of the extreme variability in phenotypic expression for NF1, reproductive decisions are very difficult for couples faced with the molecular diagnosis but with no information on the possible clinical expression of the disease. Several authors report the occurrence of growth hormone hypersecretion and precocious puberty in children with optic pathway gliomas. Drake et al.(55) report on growth hormone hypersecretion which resolved after chemotherapy treatment for the optic nerve glioma, but resulted in precocious puberty. Drimmie et al. (56) report gigantism in a boy with NF1 secondary to an optic glioma. Virdis et al.(57) review the incidence of precocious puberty in 412 NF1 patients. Of these, 31 had optic pathway glioma, and 10 had precocious puberty. One child with NF1 was shown to develop precocious puberty as a result of a hypothalamic hamartoma (58).

80. CancerGene WT1 NEOPLASIA nephroblastoma. all Wilms tumor are bilateral 21% of hereditary Wilmstumor are bilateral Associated with several congenital malformation syndromes http://caroll.vjf.cnrs.fr/cancergene/CG199.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol Aliases GUD; WAGR; WIT-2 Name Wilms tumor 1 Locus OMIM GDB SwissProt LocusLink Atlas of Genetics and Cytogenetics in Oncology and Haematology : Class GATEKEEPER; TRANSLOC; TUMOR-SUPPRESSOR Diseases Kidney Neoplasms; Nephroblastoma; WAGR Syndrome Note WT1 gene is fused to EWS ( CG:36 ) in t(11;22)(p13;q12) in desmoplastic small round cell tumor (DSRCT) ( UI:95166761 ). Lee et al. (1997, UI:98016415 ) concluded that the oncogenic fusion of EWS to WT1 in DSRCT results in the induction of PDGFA ( CG:403 ) , a potent fibroblast growth factor that contributes to the characteristic reactive fibrosis associated with this unique tumour. Identification of WTAP( CG:1423 ), a novel Wilms' tumour 1-associating protein by Little et al. (2000, UI:20458888 Comments Johnstone et al. (1996, UI:97098673 ) showed that WT1 and par-4 (prostate apoptosis response protein 4; CG:1034 ) interact specifically both in vitro and in vivo and that this interaction is mediated by the zinc fingers of WT1 and the leucine repeats of par-4. Functional analyses showed that par-4 inhibited transcription activated by WT1 and augmented WT1-mediated transcriptional repression. WT1 encodes a zinc finger transcription factor implicated in kidney differentiation and tumorigenesis. In reporter assays, WT1 represses transcription from GC- and TC-rich promoters, but its physiological targets remain uncertain. Lee et al. (1999

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