In Saudubray J, van den Berghe G, Walter JH (eds.). Inborn Metabolic Diseases: Diagnosis and Treatment (5th ed.). ... In Berghe G, Fernandes J, Saudubray J, Walter JH (eds.). Inborn Metabolic Diseases. Diagnosis and Treatment (fourth ed.). Springer. p. 137. ISBN 978-3-540-28783-4 . ^ Tran C (April 2017). ... Anesthesia and Uncommon Diseases (third ed.). Philadelphia: Saunders.
Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.
A number sign (#) is used with this entry because of evidence that essential fructosuria is caused by compound heterozygous mutation in the KHK gene (614058) on chromosome 2p23. Description Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994). Clinical Features In individuals with essential fructosuria, ingestion of dietary fructose, sucrose, or sorbitol is followed by an abnormally large and persistent rise in blood fructose concentration and by excretion of 10 to 20% of the ingested load in the urine (Gitzelmann et al., 1989). Essential fructosuria was first described independently by Czapek (1876) and Zimmer (1876) in a man who also suffered from diabetes mellitus. Laron (1961) counted 50 published cases, of which 18 were in Jews. The enzyme deficiency was demonstrated in liver by Schapira et al. (1961).
Histologically, they are composed of both thick- and thin-walled blood vessels.[2] References[edit] ^ McKee's Pathology of the Skin (5 ed.). Elsevier. 2020. pp. 1698–1894. ^ a b Dermatopathology (2 ed.). Saunders. 2016. pp. 513–594.
(eds.). Actinomycosis in: Baron's Medical Microbiology (4th ed.). Univ of Texas Medical Branch. ... PMID 25095985. ^ Ryan KJ; Ray CG, eds. (2004). Sherris Medical Microbiology (4th ed.). ... Williams gynecology (2nd ed.). New York: McGraw-Hill Medical. p. 42. ISBN 978-0071716727 . ^ Böhm, Ingrid; Willinek, Winfried; Schild, Hans H. ... Fitzpatrick's Dermatology in General Medicine (7th ed.). McGraw Hill. ^ Sullivan, D. ... Stitt's Diagnosis, Prevention and Treatment of Tropical Diseases (7th ed.). p. 1182. ^ Control of Communicable Diseases in Man (8th ed.).
Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.
Fibrinogenolysis Specialty Hematology Primary fibrinogenolysis is a medical condition that appears with abnormal production of fibrinogen/fibrin degradation products (FDP), degradation of coagulation factors V, VIII, IX, XI and/or degradation of the fibrin present in any pre-existing localized thrombi and hemostatic clots.[1][2] References[edit] ^ Marder VJ, Williams WJ, Beutler E, Erslev AJ, Lichtman MA, eds. (1990). ... Hematology. ^ Potron G, Caen JP, Tobelem G, Soria C, eds. (1988). "Fisiopatologia delle iperfibrinolisi".
(Guest editor) (eds.). Essential Metals in Medicine:Therapeutic Use and Toxicity of Metal Ions in the Clinic. ... In: Ziegler EE, Filer LJ, eds. Present Knowledge in Nutrition. 7th ed. ... In: Klimis-Tavantzis DL, ed. Manganese in health and disease. Boca Raton: CRC Press, Inc; 1994:39-58.
In Samper, JC (ed.). Equine breeding management and artificial insemination (2nd ed.). ... Scott (eds.). Equine clinical medicine, surgery, and reproduction. London: Manson Publishing/The Veterinary Press. p. 318.
References[edit] This article incorporates text from a publication now in the public domain: Chambers, Ephraim, ed. (1728). ... Cyclopædia, or an Universal Dictionary of Arts and Sciences (first ed.). James and John Knapton, et al. p. 106. ^ ed. William Youatt (1836). "Cattle: Their Breeds, Management, and Diseases".
Further reading[edit] Trees portal This article incorporates text from a publication now in the public domain: Chambers, Ephraim, ed. (1728). ... Cyclopædia, or an Universal Dictionary of Arts and Sciences (first ed.).
A rare subtype of spondylodysplastic Ehlers-Danlos syndrome (EDS) characterized by the presence of classic cutaneous features of EDS (i.e. hyperextensible, soft, doughy, thin translucent skin with atrophic scarring) associated with short stature (progressive in childhood), protuberant eyes with bluish sclerae, excessively wrinkled palms, hypotrophic thenar muscles, tapering fingers, and hypermobile distal joints with tendency to contractures, due to mutations in the SLC39A13 gene.
Biochemical Features Giunta et al. (2008) found that all 6 patients with a spondylocheirodysplastic form of EDS had an increased lysyl pyridinoline/hydroxylysyl pyridinoline (LP/HP) ratio indicating underhydroxylation of collagen. The ratio in patients (mean 0.89 +/- 0.18) was lower than that in individuals with EDS VI (225400; mean 5.97 +/- 0.99) but markedly higher than that in controls (mean 0.19 +/- 0.02). ... Mapping By a genomewide SNP scan and linkage analysis, Giunta et al. (2008) defined a 16.9-Mb critical region for SCD-EDS on chromosome 11 between markers D11S1779 and D11S4191 (combined maximum lod score of 5.3). Molecular Genetics In all 6 affected members of 2 families with spondylocheirodysplastic EDS, Giunta et al. (2008) identified homozygosity for a 9-bp in-frame deletion in exon 4 of the membrane-bound zinc transporter SLC39A13 (608735.0001).
Description Pseudopili annulati is an unusual variant of normal hair characterized by a banded appearance of the hair under reflective light, as observed in pili annulati (180600), but resulting from a distinct underlying physical defect. There is no increased hair fragility (Price et al., 1970). Clinical Features Price et al. (1970) reported a 9-year-old girl with blond hair whose scalp hair showed light and dark banding since infancy. Light microscopy showed that the banding appeared only if the light struck the hair at right angles to the long axis of the hair, which was distinct from that observed with pili annulati. Polarizing light indicated variability in the thickness of the hair shaft, and illuminating light did not show bands, 2 additional features that distinguished it from pili annulati. Further examination of the hair shaft showed that the pseudopili annulati hairs had periodic widening and narrowing, that the fiber cross-section was roughly elliptical, and that a periodic twisting of the hair (30 to 40 degrees in 2 alternating directions) was superimposed on the ellipticity.
These tumors are surgically excised usually without complication or recurrence, although malignant porocarcinomas can recur and metastasize to local lymph nodes.[4] Poroma eccrinale (Hidroacanthoma simplex) Eccrine clear cell poroma See also[edit] Hidradenoma Basal cell carcinoma Seborrheic keratosis References[edit] ^ Ackerman, AB, ed. (1990). ... Cutis. 88: 227–229. ^ Griffiths, C; Cox, N; Breathnach, S; et al., eds. (2010). "53. ... Rook's Textbook of Dermatology - 8th Ed. Chichester, West Sussex: John Wiley & Sons Ltd.
The first patient was a 45-year-old man who had received the diagnosis of EDS type II (see 130010) because of recurrent shoulder dislocations since childhood, small joint hypermobility, pectus excavatum, muscle and tendon tears, bilateral inguinal hernias, small scars under the chin and on the forehead, atrophic scars over the knees and shins, easy bruisability, and generally hyperextensible and thin skin. ... The second patient, who had been described by Hata et al. (1988) and Kojima et al. (1988), had also been diagnosed with EDS type II. ... Molecular Genetics In 2 of the patients with EDS studied by Schwarze et al. (2004), COL1A2 mRNA instability resulted from compound heterozygosity for splice site mutations in the COL1A2 gene (120160.0045-120160.0046 and 120160.0047-120160.0048, respectively). ... Malfait et al. (2006) recorded the clinical features of a 6-year-old boy in whom complete lack of alpha-2 chains of type I collagen (120160.0052) was associated with a phenotype reminiscent of mild hypermobility EDS (225320). ... The phenotypic consequences are those of a form of EDS with hypermobility in childhood, complicated by cardiac valve disease in adulthood.
Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
. ^ a b c d Meuten, DJ, ed. (2016). "Chapter 12: Tumors of the respiratory tract". Tumors in domestic animals (5th ed.). John Wiley & Sons. pp. 467–498. ... In Fan, Hung (ed.). Jaagsiekte Sheep Retrovirus and Lung Cancer. Berlin, Heidelberg: Springer Berlin Heidelberg. pp. 55–79. doi:10.1007/978-3-642-55638-8_2. ... In Fan, Hung (ed.). Jaagsiekte sheep retrovirus and lung cancer. Volume 275 of Current Topics in Microbiology and Immunology. ... In Fan, Hung (ed.). Jaagsiekte Sheep Retrovirus and Lung Cancer. Berlin, Heidelberg: Springer Berlin Heidelberg. pp. 55–79. doi:10.1007/978-3-642-55638-8_3.
In Gilger, BC (ed.). Equine Ophthalmology (3rd ed.). John Wiley & Sons. pp. 380–415. ISBN 9781119047742 . ^ Equine Recurrent Uveitis ^ a b Maggs, D; Miller, P; Ofri, R, eds. (2013). ... Slatter's fundamentals of veterinary ophthalmology (5th ed.). St. Louis, Mo.: Elsevier. pp. 235–240.
As no genetic test can identify or separate either conditions and because of the similarity of the diagnosis criteria and recommended treatments, many experts recommend they should be recognized as the same condition until further research is carried out.[5][6] In 2016 the diagnostic criteria for EDS Type 3 were re-written to be more restrictive, with the intent of narrowing the pool of EDS Type 3 patients in the hope of making it easier to identify a common genetic mutation, EDS Type 3 being the only EDS variant without a diagnostic DNA test. ... EDS has numerous sub-types; most include hypermobility in some degree. When hypermobility is the main symptom, then EDS/hypermobility type is likely. ... Retrieved 2016-12-02. ^ "Hypermobility Syndromes Association » JHS v EDS Hypermobility- Same Thing?". ... Retrieved 2016-11-24. ^ "Ehlers Danlos UK - JHS vs EDS". www.ehlers-danlos.org.
