The objectives of the present review are to compare the clinical manifestations and analyze the mutational basis of these two AFP genetic disorders in accordance with presently accepted models of AFP gene regulation. [dergipark.gov.tr]

ORPHA:168612 Synonym(s): - Prevalence: Inheritance: - Age of onset: Antenatal, Neonatal ICD-10: - OMIM: 615969 UMLS: C1863081 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

The book describes the use of combined biochemical markers to screen for neural tube and chromosomal defects, presents the latest developments relating to testing fetal cells in the mother's blood, and reviews major advances in molecular genetics that [books.google.de]

• Anemia

  New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference [books.google.de]

  Atypical cases may present with recurrent infections, anemia or hepatitis in the second or third decade of life. [esid.org]

  PubMed Google Scholar Rossbach HC, Sutcliffe MJ, Haag MM, Grana NH, Rossi AR, Barbosa JL: Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. [bmcpregnancychildbirth.biomedcentral.com]

• Malnutrition

  Diaphragmatic eventration Recurrent infections Fibrous hamartoma Abnormal lung morphology Chronic obstructive pulmonary disease Chronic lung disease Abnormality of the pancreas Prolactin excess Bronchitis Acute lymphoblastic leukemia Neoplasm of the pancreas Malnutrition [mendelian.co]

• Underweight

  False-Positive and False-Negative Maternal Serum Alpha-Fetoprotein Levels False-Positive Levels Inaccurate gestational dating (patient has a more advanced gestation than estimated) Multiple gestation Race (black patients have higher levels than white patients) Underweight [glowm.com]

• Pathologist

  Hackett", year "1995", language "English (US)", volume "103", pages "400--403", journal "American Journal of Clinical Pathology", issn "0002-9173", publisher "American Society of Clinical Pathologists", number "4", } TY - JOUR T1 - Low maternal serum [experts.umich.edu]

• Heart Disease

  Moss' heart disease in infants, children, and adolescents, 4th ed. Baltimore: Williams & Wilkins, 1989:530. ‎ [books.google.de]

  Up to 24% of patients with Alagille syndrome will have structural heart disease, as will some patients with biliary atresia. Echocardiography will also assess for abnormal cardiac function, which may contribute to cholestasis. [cancertherapyadvisor.com]

  disease THREE FORMS: Most Common Form (90%): Upper esophagus ends in blind non-descript pouch. [kumc.edu]

• Hydrops Fetalis

  Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care [books.google.de]

  • Hematology—Fetomaternal haemorrhage, hydrops fetalis. • Immunodeficiency syndromes—SCID and/or ADA deficiency, combined T- and B-cell defects, ataxia-telangiectasia. • Miscellaneous—Cystic hygroma, Turner syndrome, foetal demise, twin gestation, congenital [medical-dictionary.thefreedictionary.com]

  fetalis Low Low Very low Normal or low Unknown With hydrops fetalis Low High Very low High Unknown Fetal demise High or low High or low Very low High or low Unknown AFP, alpha-fetoprotein; MoM, multiple of the median; hCG, human chorionic gonadotropin [questdiagnostics.com]

  fetalis High, narrow palate Nevus flammeus Tall stature Enlarged kidney Pointed chin Prominent metopic ridge Large for gestational age Hemihypertrophy Prominent occiput Cardiomegaly Omphalocele Large fontanelles Sacrococcygeal teratoma Macroglossia Myopathy [mendelian.co]

• Fetal Disorder

  Haddow JE, Palomaki G, Knight GJ et al: Prenatal screening for major fetal disorders. In Haddow JE (ed): Fetal Disorders Associated With Elevated MSAFP Levels, vol 1, p 4. Scarborough, ME: Foundation for Blood Research, 1990 9. [glowm.com]

  Elevated levels are also associated with multiple gestation; placental anomalies; a variety of fetal disorders including ventral abdominal wall defects, congenital nephrosis, and oligohydramnios; fetal loss; and maternal disorders such as liver cancer [questdiagnostics.com]

• Anxiety Disorder

  Anxiety disorder A psychological disorder characterized by a persistent and disabling feeling of apprehension or fear. [portal.bsc.gwu.edu]

Serum levels of AAT can be helpful to guide workup before phenotype results are available. [unboundmedicine.com]

Additional workup and evaluation including pathologic diagnosis, imaging, and exclusion of other conditions associated with elevations of AFP must compliment tumor marker evaluation. [intechopen.com]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.de]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Knowledge of AFP reference levels might serve to guide the clinician in avoiding: a) misguided diagnoses; b) unnecessary treatments and therapies; and c) undue anxieties and stress during pregnant and non-pregnant states. alpha-fetoprotein, genetic disorder [dergipark.gov.tr]

Algorithm for the treatment of mild congenital adrenal hyperplasia. (ACTH adrenocorticotropic hormone) Treatment of Mild Congenital Hyperplasia FIGURE 4. Algorithm for the treatment of mild congenital adrenal hyperplasia. [aafp.org]

Both the management and prognosis is heavily dependent on the type of neural tube defect. [radiopaedia.org]

PROGNOSIS: Very grim prognosis, due to its anatomical location. Probably the worst prognosis of all cancers. Courvoisier Sign: Obstruction of the common bile duct ------ acute painless dilatation of gallbladder, and jaundice. [kumc.edu]

Prognosis of Liver Cancer Liver cancer is the third most fatal cancer. If untreated, most patients do not survive beyond 6 months. Surgery is the only method that allows for a reasonable survival beyond 5 years. [nccs.com.sg]

Prognosis Approximately 10% of PiZZ and PiSZ individuals will have clinically significant liver disease during childhood; 50% of the remaining individuals will have mildly elevated aminotransferases. [unboundmedicine.com]

Etiology Subtypes and variants Diagnostics Prenatal screening Elevated levels of alpha-fetoprotein ( AFP ) in amniotic fluid at 13–15 weeks' gestation Fetal ultrasonography at 20 weeks' gestation CT scans and cranial ultrasonography (in infants ) to monitor [amboss.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Epidemiology, etiologic factors, and prenatal diagnosis of open spinal dysraphism. Neurosurg Clin N Am. 1995 Apr. 6(2):183-93. [Medline]. Charney EB, Weller SC, Sutton LN, Bruce DA, Schut LB. [emedicine.medscape.com]

Etiology, Incidence, and Recurrence Risks Eighty-five percent of NTDs occur by multifactorial inheritance, a genetic predisposition from an interplay between various genes and environmental factors. [glowm.com]

Etiology Mutations in the SERPINA1 gene result in lung disease through unopposed protease activity and in liver disease by intracellular retention of mutant AAT. [unboundmedicine.com]

Definition Epidemiology References: [1] [2] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

By contrast, with the exception of epidemiological studies assessing breast cancer risk and other scientific studies, the main value of E3 measurements is in the diagnosis of maternal-fetal diseases. [mayomedicallaboratories.com]

HBV Surface Antigen (HBsAg): 4 phenotypes, useful for epidemiology: adw, ayw, adr, ayr. EPIDEMIOLOGY: Sexual, fecal-oral, or intravenous or by exposure to blood products. [kumc.edu]

Purtilo syndrome - XLP Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological [csbg.cnb.csic.es]

The changing epidemiology of neural tube defects. United States, 1968-1989. Am J Dis Child. 1992 Jul. 146(7):857-61. [Medline]. [emedicine.medscape.com]

In and of itself, this genetic mutation is not a cause of liver disease, but it may contribute to pathophysiology of other liver diseases. [unboundmedicine.com]

Assessing estrogen metabolism, estrogen and estrogen-like medications, and other endogenous or exogenous factors impacting on estrogen metabolism in the context of other basic scientific and clinical studies Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

View Article PubMed Google Scholar Seppala M: Fetal pathophysiology of human alpha-fetoprotein. Ann N Y Acad Sci. 1975, 259: 59-73. [bmcpregnancychildbirth.biomedcentral.com]

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‎ Seite 332 - Crane JP, LeFevre ML, Winborn RC, et al. [books.google.de]

Prevention Preventive measures to avoid serious limb defects such as amelia include avoidance of thalidomide and other teratogens in women of childbearing years, avoidance of alcohol during pregnancy and comprehensive management of diabetes mellitus throughout [content.achhabachha.com]

However, a variety of treatments can sometimes prevent further damage and help with complications. NIH: National Institute of Child Health and Human Development [medlineplus.gov]

Although the procedure cannot restore lost neurological function, it may prevent additional losses from occurring. [medicinenet.com]