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18 Possible Causes for Based on 3 Patients from 2 Families, Urine Hyaluronic Acid Increased

  • Ruijs Aalfs Syndrome

    Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related Symptom Articles Triangular face : Summary Facial contour, as[…][familydiagnosis.com]

  • Lynch Syndrome

    3, 4, 5, 6] When compared based on stage, patients with colorectal cancer from families with a history of HNPCC have a better prognosis than patients with colorectal cancer[emedicine.medscape.com] […] infiltrated, and a poorly differentiated, mucinous or signet ring appearance. [1] Investigators have found that MSI-positive tumors are associated with improved survival rates. [2,[emedicine.medscape.com]

    Missing: Urine Hyaluronic Acid Increased
  • Stiff Skin Syndrome

    PROGERIA (Hutchinson-Gilford syndrome) This is an autosomal recessive syndrome where fibroblast survival time is decreased with increased production of hyaluronic acid that[drmhijazy.com] […] appears in urine.[drmhijazy.com]

    Missing: Based on 3 Patients from 2 Families
  • Hypogonadotropic Hypogonadism

    RESULTS: In 3 patients from 2 independent families we identified GNRH1 mutations.[ncbi.nlm.nih.gov] In the proband from family 1, a homozygous 1-base deletion (c.87delA) leading to a frameshift mutation (p.G29GfsX12) was identified.[ncbi.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    Notably, hyaluronic acid levels in the urine normally increase with age, although not approaching the levels observed in progeria.[encyclopedia.com] The most prevalent physiological abnormality associated with progeria is elevated hyaluronic acid in the urine.[encyclopedia.com] Hyaluronic acid is involved in maintenance of the skeletal, muscular, cutaneous, and vascular systems of the body, and is thought to block angiogenesis (vascularization).[encyclopedia.com]

    Missing: Based on 3 Patients from 2 Families
  • Familial Colorectal Cancer

    3, 4, 5, 6] When compared based on stage, patients with colorectal cancer from families with a history of HNPCC have a better prognosis than patients with colorectal cancer[emedicine.medscape.com] […] infiltrated, and a poorly differentiated, mucinous or signet ring appearance. [1] Investigators have found that MSI-positive tumors are associated with improved survival rates. [2,[emedicine.medscape.com]

    Missing: Urine Hyaluronic Acid Increased
  • Facial Granuloma

    Curettage required fewer treatments overall than cryotherapy ( P Evidence-based answers from the Family Physicians Inquiries Network[mdedge.com] Twenty-five of 40 pyogenic granulomas (63%) responded to 1 cryotherapy treatment, 13 lesions (32%) resolved after 2 treatments, and 2 (5%) resolved after 3 treatments; 17[mdedge.com] […] of the 40 patients (42.5%) had a residual scar.[mdedge.com]

    Missing: Urine Hyaluronic Acid Increased
  • Acrogeria

    Since the glycosaminoglycans and hydroxyproline excreted in the urine were not increased, we speculate that a localized rather than a systemic abnormality may be present in[ncbi.nlm.nih.gov] Decreased collagen and hyaluronic acid contents in the patient are discussed in relation to Werner’s syndrome and type IV Ehlers-Danlos syndrome. 1986 S.[karger.com] PROGERIA (Hutchinson-Gilford syndrome) This is an autosomal recessive syndrome where fibroblast survival time is decreased with increased production of hyaluronic acid that[drmhijazy.com]

    Missing: Based on 3 Patients from 2 Families
  • Overhydrated Hereditary Stomatocytosis

    Design and Methods Blood samples were collected from 4 French patients (3 males and one female) from three different families 2 carrying the Phe65Ser mutation in RhAG, and[haematologica.org] OHSt patients in order to fully characterize the metabolic bases of this disease.[haematologica.org] […] the extraction and global mass spectrometry-based analyses of metabolites from purified human RBCs. 8 Here we use this strategy to distinguish metabolic changes in RBCs from[haematologica.org]

    Missing: Urine Hyaluronic Acid Increased
  • Familial Osteodysplasia

    PROGERIA (Hutchinson-Gilford syndrome) This is an autosomal recessive syndrome where fibroblast survival time is decreased with increased production of hyaluronic acid that[drmhijazy.com] […] appears in urine.[drmhijazy.com]

    Missing: Based on 3 Patients from 2 Families

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