21. ClinicalTrials.gov - Linking Patients To Medical Research Search NINDS Zellweger Syndrome Information Page , None. Zellweger Syndrome Also searchedzellweger disease zellwegers syndrome cerebrohepatorenal syndrome, 2. http://www.clinicaltrials.gov/search/term=NINDS Zellweger Syndrome Information P

22. 1Up Health > Health Links Directory > Conditions And Diseases: C Abscess (4) Cerebral Edema (4) Cerebral Gigantism (4) Cerebral Palsy (164) CerebrocostomandibularSyndrome (4) cerebrohepatorenal syndrome (5) Cerebrotendinous http://www.1uphealth.com/links/conditions-and-diseases-c.html

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23. EMedicine - Glaucoma, Secondary Congenital : Article Excerpt By: Inci Irak, MD HallermannStreiff syndrome. cerebrohepatorenal syndrome (Zellweger) syndrome. Sticklersyndrome. Trisomy syndromes (Down syndrome, Trisomy D, Edwards syndrome). http://www.emedicine.com/oph/byname/glaucoma-secondary-congenital.htm

(advertisement) Excerpt from Glaucoma, Secondary Congenital Synonyms, Key Words, and Related Terms: developmental glaucoma, open angle, closed angle, vision loss, visual deficit Please click here to view the full topic text: Glaucoma, Secondary Congenital Background: This article discusses developmental glaucomas with associated ocular or systemic anomalies and the most identifiable causes. Aniridia and Peters Anomaly are covered in other articles. Glaucoma associated with congenital ocular abnormalities include the following: Aniridia Hypoplasia/hyperplasia of iris Axenfeld-Rieger syndrome Peters anomaly Congenital ectropion uvea Congenital corneal staphyloma Cornea plana Iridoschisis Megalocornea Microcornea Microphthalmos Morning glory syndrome Persistent hyperplastic primary vitreous Glaucomas associated with systemic congenital abnormalities include the following: Weil-Marchesani syndrome Glaucoma in phakomatosis Oculocerebrorenal (Lowe) syndrome Hallermann-Streiff syndrome Cerebrohepatorenal syndrome (Zellweger) syndrome Stickler syndrome Trisomy syndromes (Down syndrome, Trisomy D, Edwards syndrome)

24. C Cerebral Gigantism; @ Cerebral Palsy; @ Cerebrocostomandibular Syndrome;@ cerebrohepatorenal syndrome; @ Cerebrotendinous Xanthomatosis; http://www.ad.com/Health/Conditions_and_Diseases/C/

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25. Pseudo-Zellweger Syndrome An infant girl was diognosed with a clinical, chemical, and pathologic syndromeremarkably similar to Zellweger cerebrohepatorenal syndrome but whose liver http://www.mssc.edu/biology/B305/GTS/fs00/ashli/disease/disease.html

Pseudo-Zellweger syndrome Ashli O'Brien CLINICAL SIGNS OF PZS Pseudo-Zellweger syndrome is a rare hereditary disorder affecting infants, and usually results in death. Unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in the blood, and vision disturbances are among the major manifestations of Pseudo-Zellweger syndrome. Pseudo-Zellweger syndrome is a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Pseudo-Zellweger syndrome is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering, which acts as an insulator, on nerve fibers in the brain (1). The most common features of Pseudo-Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur (1). INHERITANCE PATTERN Pseudo-Zwllweger syndrome is an autosomal recessive contiguous gene syndrome (1).

26. Kennedy Krieger Institute Metabolic Disorders MERRF, NARP; Barth syndrome. Peroxisomal Disorders ; Zellweger Syndrome(cerebrohepatorenal syndrome); X-Linked Adrenoleukodystrophy; http://www.kennedykrieger.org/kki/kki_diag.jsp?pid=1093

27. Browsing Health Conditions And Diseases C Category Cerebral Abscess Cerebral Edema Cerebral Gigantism Cerebral Palsy CerebrocostomandibularSyndrome cerebrohepatorenal syndrome Cerebrotendinous Xanthomatosis http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/C/

28. Neonatology On The Web: Inborn Errors Of Metabolism several important exceptions Peroxisomal disorders such as Zellweger'scerebrohepatorenal syndrome. Patients are dysmorphic with http://www.neonatology.org/syllabus/iem.03.html

Neo Home New Clinical Computers ... Links Inborn Errors of Metabolism: Algorithms for Evaluation william.wilcox@cshs.org Metabolic Acidosis Suspected IEM with Metabolic Acidosis, Diagnostic Flowchart The presence of metabolic acidosis is an important finding and the starting point for one of the two algorithms. If the anion gap is normal and associated with hyperchloremia, this suggests loss of bicarbonate either from the gastrointestinal tract or kidneys. The presence of renal tubular acidosis does not rule out an IEM, however. Galactosemia and Lowe's syndrome (oculocerebrorenal syndrome, an X-linked recessive disorder with congenital cataracts, proximal RTA, and mental retardation) as well as many other metabolic disorders which present later are associated with a RTA, usually a proximal RTA. RTA is often found with disorders of energy metabolism. Elevated anion gap acidosis can be divided into 3 categories depending on the presence of ketones and glucose level. Because the normal ketones (acetoacetic acid and 3-hydroxybutyrate) come from the oxidation of fatty acids, their absence associated with significant hypoglycemia can be suggestive of a fatty acid oxidation disorder. These disorders often present later in life with a Reye syndrome picture or "SIDS". The presence of ketones in the urine (may only be 1+) hypoglycemia suggests an organic aciduria or lactic acidosis. Hyperglycemia and ketonuria defines diabetes mellitus. Metabolic acidosis cannot be further differentiated without the results of the amino and organic acids. If these are normal (except for the changes found with lactic acidosis), then the lactate/pyruvate ratio and the glucose level will allow differentiation into 1) glycogen storage disease, gluconeogenesis disorders, or endocrine causes; 2) disorders of pyruvate metabolism; or 3) defects in mitochondrial energy metabolism.

29. Malattie Rare E Genetiche Lettera "Z" Translate this page SINDROME DISindrome cerebro-epato-renaleZellweger Sindrome di•Zellweger SyndromeBowenSyndrome/cerebrohepatorenal syndrome•Zellweger, syndrome de http://utenti.lycos.it/fmfpc/Z.htm

HOME FORUM Site Map / Mappa del sito contatti Dal 22 Marzo 2003 il server Lycos, che ospita le pagine FMFPC, subirà un *fermo tecnico*. Le pagine resteranno accessibili ma non verranno aggiornate per circa una settimana. - Tutti i servizi di FMFPC continueranno a funzionare. - È ora possibile accedere al sito anche attraverso l'indirizzo alternativo di FMFPC (sito mirror) all'URL http://digilander.libero.it/fmfpc/portale.htm ultimi aggiornamenti Elenco malattie rare e genetiche "lettera Z" © FMFPC è un sito ideato, realizzato ed aggiornato da un malato di FMF (Febbre Mediterranea Familiare) © FMFPC is a site conceived, realized and updated by a patient of FMF (Familial Mediterranean Fever) ultimo aggiornato della pagina 10 giugno, 2002 Cerca nel menu aree FMFPC AREE FMFPC Malattie Rare Febbre Mediterranea Familiare Laboratori Diagnosi Genetica Associazioni Malati Disabilità/Handicap Categorie Medicina (Directory) Ricerche WEB (Medicina) FMFPC è partner AidWeb.org Cerca nel sito / Search in this site I contatti fino ad oggi possibili con FMFPC: Cerca in questa pagina / Search in this page con i tasti / with the keys Ctrl+F A B C D ... Y - Z - Anomalie Cromosomiche legenda Z Zadik Barak Levin Sindrome di Zadik barak levin syndrome de[Hypothyroidie kystes dermoides epibulaires fente palatine] Zambusch, Enfermedad de[Morphea Guttata, Tipo Plano/Von Zambusch, Enfermedad de/Liquen de Wilson/Liquen Ruber Plano/Liquen Plano Atrófico Escleroso/White Spot, Enfermedad de]

30. ThirdAge - Adam - Congenital Cataract Robin syndrome; familial congenital cataracts; HallermanStreiff syndrome;cerebrohepatorenal syndrome (Lowe’s syndrome); Trisomy 13; http://www.thirdage.com/health/adam/ency/article/001615.htm

document.write(''); document.write(''); document.write('<'); document.write('/SCRIPT>'); document.write(''); document.write(''); document.write('<'); document.write('/A>'); document.write('<'); document.write('/NOSCRIPT>'); document.write('<'); document.write('/IFRAME>'); Activities Computers Family Tree Health ... Prevention Congenital cataract Definition: A cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth. Alternative Names: Cataract - congenital Causes, incidence, and risk factors: Although there are many diseases and inherited disorders that can lead to congenital cataracts, the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified. This is a partial list of possible causes of congenital cataracts: galactosemia chondrodysplasia syndrome congenital rubella syndrome Down's syndrome (trisomy 21) Pierre-Robin syndrome familial congenital cataracts Hallerman-Streiff syndrome cerebrohepatorenal syndrome (Lowe's syndrome) Trisomy 13 Conradi syndrome Ectodermal dysplasia syndrome Marinesco-Sjogren syndrome Eye Cataract - close-up of the eye Rubella Syndrome Cataract Review Date: 6/6/2001 Reviewed By: Edward B. Feinberg, M.D., M.P.H., Department of Ophthalmology, Boston University School of Medicine and Harvard Medical School, Boston, MA. Review provided by VeriMed Healthcare Network.

31. Generalized Peroxisomal Defects spectrum is comprised of three disorders Zellweger syndrome (ZS; also has been referredto as cerebrohepatorenal syndrome), neonatal adrenoleukodystrophy (NALD http://www.peroxisome.org/Scientist/Biogenesis/generalizeddefectstext.html

Peroxisome Biogenesis Disorders The Zellweger spectrum The Zellweger spectrum is comprised of three disorders: Zellweger syndrome (ZS; also has been referred to as cerebrohepatorenal syndrome), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). Collectively, these disorders, along with rhizomelic chondrodysplasia punctata (RCDP; see below) are called the peroxisome biogenesis disorders, or PBDs. These disorders are caused by defects in any of at least 14 genes whose products are required for the proper assembly of the peroxisome. The distinction between the disorders is based on severity, with ZS being the most severe and IRD the least severe. The Zellweger spectrum of diseases are inherited in an autosomal recessive fashion, and the incidence of these disorders is somewhere between 1/25,000 and 1/50,000 births. Clinical phenotypes of the Zellweger spectrum Biochemical Phenotypes of the Zellweger spectrum The biochemical phenotype of these disorders is reflective of the defect in peroxisome biogenesis. Very long chain fatty acid (VLCFA) levels are increased compared to normal, phytanic acid levels are increased, and plasmalogen levels are reduced. There are also high levels of the bile acid intermediates THCA and DHCA, as well as increased levels of the lysine metabolite pipecolic acid. Genetic basis of the Zellweger spectrum As previously stated, diseases of the Zellweger spectrum result from defects in peroxisome biogenesis. Patient cell lines have been divided into 12 complementation groups (CGs), demonstrating that there are at least 12 genes involved in human peroxisome biogenesis. The molecular basis of disease for 11 of these complementation groups has been elucidated (see table below). CG 11 is not part of the Zellweger spectrum, but rather has the distinct phenotype of RCDP (see below).

32. Developmental Glaucomas With Associated AnomaliesI. Axenfeld-Rieger Syndrome[1] Turner's syndrome (XO) (5) Stickler's syndrome hereditary progressive arthroophthalmopathy(6) Zellweger syndrome cerebrohepatorenal syndrome (7) Hallermann http://cuth.cataegu.ac.kr/~jwkim/glaucoma/doctor/developmental.htm

Developmental Glaucomas I. Axenfeld-Rieger Syndrome [1] Terminology Axenfeld's anomaly : limited to peripheral anterior segment defects Rieger's anomaly : peripheral abnormalities with additional changes in the iris Rieger's syndrome : ocular anomalies plus systemic developmental defects [2] General features 1. bilateral developmental disorders of the eyes 2. frequent familial history of the disorder, with an autosomal dominant mode of inheritance 3. no sex predilection 4. frequent systemic developmental defects 5. high incidence of associated glaucoma [3] Ocular features typically bilateral involving the peripheral cornea, anterior chamber angle and iris (1) Cornea 1. prominent, anteriorly displaced Schwalbe's line: a white line on the posterior cornea near the limbus, usually limited to temporal quadrant 2. posterior embryotoxon: prominent, anteriorly displaced Schwalbe's line without other evidence of A-R syndrome, no association with increased incidence of glaucoma 3. otherwise normal cornea including endothelium

33. EPEC - Educating Parents Of Extra-special Children - Neonatal Adrenoleukodystrop Neonatal ALD is similar to the Zellweger cerebrohepatorenal syndrome,and may actually represent a milder variant of Zellweger. http://www.epeconline.com/NeonatalAdrenoleukodystrophy.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Neonatal Adrenoleukodystrophy (ALD) Neonatal ALD is autosomal recessive in its pattern of inheritance, so unlike the other form of ALD it affects both males and females. The disorder is now fairly easy to diagnose through biochemical tests, which demonstrate abnormally high levels in the tissues and body fluids of the very long chain fatty acids typical of ALD. Neonatal ALD is similar to the Zellweger cerebrohepatorenal syndrome , and may actually represent a milder variant of Zellweger. While there is no doubt that it is distinct from X-linked ALD, the exact classification of this neonatal form of ALD is still indeterminant. Individuals with Neonatal ALD suffer severe or profound mental retardation and impaired psychomotor development, together with possible impaired liver function and retarded growth. The clinical presentation and course of neonatal ALD is still not fully defined. It may take the form of an extremely severe illness with intractable seizures during the earliest part of life, or manifest as a milder form where the sufferer may survive to their mid-teens or possibly longer.

34. Sz Zellweger syndrome cerebrohepatorenal syndrome; autosomal recessive;muscular hypotonia; hepatomegaly jaundice; craniofacial dysmorphism; http://home.kimo.com.tw/2chiu/s-z.html

Zellweger syndrome cerebrohepatorenal syndrome autosomal recessive muscular hypotonia craniofacial dysmorphism seizure mental retardation brain dysgenesis ( lissencephaly, macrogynia, polymicrogyria) renal cortical cysts Zolliger- Ellison syndrome peptic ulceration gastic mucosa hypertrophy excessive acid secretion due to nonbeta islet cell adenoma Radiology Menu Symdromes

35. Amiya K. Hajra Senior Research Scientist Mental Health Research has been confirmed by the finding that in genetic diseases involving peroxisomaldisorders, such as in Zellweger cerebrohepatorenal syndrome, the tissues of http://www.med.umich.edu/mhri/researchfaculty/hajra.htm

Amiya K. Hajra Senior Research Scientist Mental Health Research Institute Professor of Biological Chemistry Research Faculty - Amiya K. Hajra Metabolism and Function of Phospholipids in Biomembranes The research in this laboratory centers on the mechanism and control of phospholipid biogenesis at the enzymic and genetic levels, and also on the role of phospholipids in signal transduction across biological membranes. E. coli and we have used them to study their catalytic mechanisms and to raise specific antibodies to help identify the native enzymes and also to study the transcriptional and translational controls of their biogenesis under different physiological conditions. Recent findings indicate that not only ether lipids but cellular non-ether glycerolipids, such as triglycerides in adipose tissue, are also synthesized via the acyl DHAP pathway. We are also involved in studying the generation and metabolism of lipid second messengers, such as diacylglycerol (DAG), in biological signal transduction. We have developed a method for quantitative molecular species analysis of DAG to differentiate among its various cellular roles. Using this method, we have shown that following receptor activation, both inositol and choline-containing lipids break down to form DAG. However, the DAG formed from inositol lipids is recycled back to the parent lipids, while the DAG from choline- containing lipids is not recycled. The physiological function and the mechanism of recycling of the large amount of DAG formed after chronic receptor activation are being studied in our laboratory.

36. New Page 0 Zellweger's cerebrohepatorenal syndrome is an autosomal recessive disorder. Peroxisomaldisorders Zellweger syndrome (cerebrohepatorenal syndrome). http://www.bol.ucla.edu/~ofattal/neonatalcholestasis.htm

NEONATAL CHOLESTASIS Home CHOLESTASIS (REDUCTION IN BILE FLOW) A. General considerations. 1. Cholestasis results from extrahepatic obstruction or hepatocellular injury, either primary or secondary to many infectious, or metabolic and toxic causes. 2. The newborn is particularly susceptible because of immature hepatobiliary function, with decrease in bile acid pool size, rate of synthesis, intraluminal concentration, and ileal uptake. Consequently, intraluminal fat digestion is impaired, and cholestatic effects of various endogenous and exogenous substances are enhanced. 3. Conjugated hyperbilirubinemia is always a problem and is accompanied by elevation of bile salts and phospholipids, indicating cholestasis. Early recognition allows prompt diagnosis and effective therapy. B. Clinical syndromes (Box 19-3). Neonatal cholestasis occurs in 1:2500 births, with extrahepatic obstruction accounting for half of the cases. Neonatal hepatitis, biliary atresia and at-antitrypsin deficiency are the three most common causes, with an approximate incidence of 1:5000, 1:10,000, and 1:20,000, respectively. 1. Extrahepatic biliary disease.

37. AnsMe Directory - Health > Conditions And Diseases > C Cerebral Palsy. Cerebrocostomandibular Syndrome. cerebrohepatorenal syndrome.Cerebrotendinous Xanthomatosis. Cervical Cancer. CharcotMarie-Tooth Disease. http://dir.ansme.com/health/43345.html

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38. GENATLAS GENE DATABASE acid intermediates and pristanic acid ,expressed in liver and extrahepatic tissues,aboutnull activity in the Zellweger cerebrohepatorenal syndrome, 601641, y, http://bisance.citi2.fr/cgi-bin/mug?tex1=ON

39. Early Childhood Intervention Cerebrocostomandibular Syndrome; cerebrohepatorenal syndrome; CerebrovascularAccident; Chondrodysplasia Punctata Syndromes; Chromosomal http://www.eci.state.tx.us/edc/referring/HTML/diagnoses/c.htm

Medical Diagnoses (A medical diagnoses is not needed to refer) A B C D ... P Q R S T U V W X Y Z C ICD-9 Code Diagnosis Camptomelic Dysplasia (CMD I, Camptomelic Dwarfism) Canavan Disease Carpenter Syndrome (Acrocephalopolysyndactyly) Caudal Regression Syndrome (Sirenomelia) Cerebellar Astrocytoma Cerebral Ataxia, Congenital Cerebral Cysts, Congenital Cerebral Dysplasia Cerebral Gigantism (Soto's Syndrome) Cerebral Palsy, Infantile, Diplegic (Congenital Diplegia, Paraplegia) Cerebral Palsy, Infantile, Hemiplegic (Congenital Hemiplegia) Cerebral Palsy, Infantile, Monoplegic Cerebral Palsy, Infantile, Other Specified Cerebral Palsy, Infantile, Quadriplegic Cerebral Palsy, Infantile, Unspecified Cerebrocostomandibular (Smith-Theiler-Schachenmann) Syndrome Cerebrohepatorenal Syndrome CHARGE Syndrome (CHARGE Association) Chondrodysplasia Punctata Syndromes (Calcificans Congenita) Chromosomal Anomalies - 10p+ Chromosomal Anomalies - 10q+ Chromosomal Anomalies - 11p- Chromosomal Anomalies - 12p- Chromosomal Anomalies - 13q- Chromosomal Anomalies - 13q+ Chromosomal Anomalies - 18q- Chromosomal Anomalies - 21q- Chromosomal Anomalies - 22q- Chromosomal Anomalies - 3q+ Chromosomal Anomalies - 4p- Chromosomal Anomalies - 4p+ Chromosomal Anomalies - 4q-

40. Walnut Hill OB/GYN Associates - Medical Terms Cerebral palsy, Cerebritis. cerebrohepatorenal syndrome, Cerebrospinalfluid. Cerebrovascular accident, Cerebrovascular ferrocalcinosis. http://www.walnuthillobgyn.com/medicalTerms

Home HealthyWomen Medical Terms Sometimes doctors use words only they understand. It's difficult enough to understand health information without struggling with unfamiliar words. In order to help you better understand your health and improve your communication with your healthcare provider, we have provided an extensive list of medical terms defined using clear, understandable language. Term Search Type in a Term: Term Select A B C D ... Z A Aarskog-Scott syndrome Aase-Smith syndrome I Aase-Smith syndrome II Abdomen ... Azotemia B Bacillary angiomatosis Back pain Backbone Bacteremia ... Bypass C Caesarian section Caffeine Calcaneal spur Calcific bursitis ... Cytoplasm D D and C Dactyledema Dactylitis Dandruff ... Dysuria E E. coli E. coli hemorrhagic diarrhea Eagle syndrome Ear piercing ... Eyetooth F Fabry disease Face Presentation Facial nerve Fainting ... Fungus G Galactorrhea Gallbladder Gallstones Gamete Intra-Fallopian Tube Transfer (GIFT) ... Gynecomastia H Habitual abortion Hair follicle Hair follicles Hairy-cell leukemia ... Hysteroscopy I Ibuprofen Ichthyosis Ichthyosis simplex Ichthyosis vulgaris ... IV J Jadassohn-Lewandowski Syndrome Jakob-Creutzfeldt disease Jaundice Jejunum ... Juxtaglomerular apparatus K Kanner syndrome Kaposi's Sarcoma Kartagener syndrome Kawasaki disease ... Kyphosis L Labia Labile diabetes Labor LAC encephalitis ... Lymphoproliferative disorders M Macrogenitosomia Macrosomia Macula Macular degeneration ... Myriad N Nail-patella syndrome Nanism Narcolepsy Nasal septum ... Nystagmus O Oat cell cancer Obesity Obsessive-compulsive disorder Obstetrician ... Oxytocin P Pacemaker Pachyonychia congenita Paget's Disease of Bone Pain ... Pyuria Q

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