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7,617 Possible Causes for Autophagic Vacuoles Seen on Biopsy, Italian, Sweat Test Abnormal

  • Fucosidosis

    This mutation was present in one allele and was found also in the mother who was of Italian origin. (2) A C to A mutation (W382X) in exon 6 in an Italian patient.[ncbi.nlm.nih.gov] For example, electron microscopic examination of tissue samples from the skin, liver, spleen, heart, lung, kidney, sweat glands, and/or other cells may reveal abnormal “cavities[rarediseases.org] This G60D mutation creates a unique site for AflIII. 4) A frameshift mutation resulted from a two-base deletion in exon 2 (K151fs) in an Italian patient.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Addison's Disease

    In phase two, 21 SNPs in 11 genes were genotyped in German, Swedish, Italian and Polish cohorts (1264 AAD, 1221 controls).[ncbi.nlm.nih.gov] DESIGN: We aimed to evaluate clinical, immunologic, adrenal imaging, and genetic features in 633 Italian patients with AD followed up since 1967.[ncbi.nlm.nih.gov] Adrenocortical Insufficiency, Primary, Addisons Disease, Addisons disease Portuguese DOENCA DE ADDISON, Hipadrenalismo primário, Insuficiência suprarrenal primária, Doença de Addison Italian[fpnotebook.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Cystic Fibrosis

    (In Italian). Epidemiol Prev 1999 ; 23 : 5 –16. 10. Frederiksen B, Lanng S, Koch C, et al.[aje.oxfordjournals.org] Two sweat tests were abnormal with elevated chloride levels at 78 and 88 mmol/L. DNA sequencing revealed a heterozygous mutation 711 1 G T and an IVS8-T5 allele.[ncbi.nlm.nih.gov] It leads to chronic lung disease, exocrine pancreatic insufficiency, hepatobiliary disease, and abnormally high sweat electrolytes.[msdmanuals.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Mucopolysaccharidosis

    Common IDUA mutations detected in the Italian population include p.Pro533Arg (11%), p.Gly51Asp (9.3%) and p.Ala327Pro (5.6%) 9.[centogene.com] Identification of molecular defects in Italian Sanfilippo a patients including 13 novel mutations. Hum Mutat 1998;11:313–320. 49.[ijponline.biomedcentral.com] 31% of mutant alleles in Australia, 35% of those in Germany, and 58% of those in Netherlands 20, 21 The p.S66W missense mutation is found in 29% of alleles in a cohort of Italian[centogene.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Glycogen Storage Disease Type 1

    PATIENTS AND METHODS: Ninety-five patients (median age at the time of the study: 14.5 years) were enrolled from nine Italian referral centres for metabolic diseases.[ncbi.nlm.nih.gov] Sechi A, Deroma L, Paci S, et al ; Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. JIMD Rep. 2013 Dec 21.[patient.info]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Hypoparathyroidism

    Setting: Italian multicenter study. Participants: 42 subjects. Intervention: Twice-daily PTH(1-34) 20 μg subcutaneous injection.[ncbi.nlm.nih.gov] We retrieved data from the "Record of Hospital Discharge" (SDO) of the Italian Health Ministry, from the year 2006 to 2013 and analyzed the codes corresponding to hypoparathyroidism-related[ncbi.nlm.nih.gov] […] insufficiëntie; bijschildklier, Hypoparathyroïdie, niet gespecificeerd, hypoparathyroïdie, Hypoparathyreosis, Hypoparathyreoïdie, Hypoparathyroïdie, Parathyroïdie, hypo- Italian[fpnotebook.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Glycogen Storage Disease

    Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred. Muscle Nerve. 1996 Sep;19(9):1134-7.[ghr.nlm.nih.gov] While rare in the general population (1 in 1,000,000 individuals), high risk populations include people of Native American, Iranian Jewish, and Italian heritage.[doi.org] Ia Glucose-6-Phosphatase Ashkenazi Jewish Mormon Mexican Ib Glucose-6-Phosphate Transporter Native American Italian III Debranching Enzyme Faroe Islands / Scandinavian Indian[doi.org]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Nephrogenic Diabetes Insipidus

    DIJABETES INSIPIDUS, NEFROGENI Polish Moczówka prosta nerkowa Hungarian nephrogen diabetes insipidus Norwegian Nefrogen diabetes insipidus, Diabetes insipidus, nefrogen Italian[fpnotebook.com] Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Ectodermal Dysplasia

    Bramanti, Alessandro Desideri and Giuseppe Novelli, Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian[dx.doi.org] As shown by the father of female proband 6, the test easily reveals an abnormal distribution of functioning sweat glands in those body sites that also show the clinical evidence[jamanetwork.com] In her case, the starch-iodine test results showed a nearly complete absence of functioning sweat glands.[jamanetwork.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Acute Bronchitis

    12 2556 Mean Difference (IV, Fixed, 95% CI) ‐0.06 [‐0.07, ‐0.05] 10.2 Non Italian 14 3618 Mean Difference (IV, Fixed, 95% CI) ‐0.02 [‐0.03, ‐0.02] 11 Number of exacerbations[dx.doi.org] Clinical practices for intermediate sweat tests following abnormal cystic fibrosis newborn screens. J Cyst Fibros. 2011 Dec. 10(6):460-5. [Medline]. [Full Text].[emedicine.medscape.com] 12 2556 Mean Difference (IV, Fixed, 95% CI) ‐0.06 [‐0.07, ‐0.05] 9.2 Non‐Italian 16 4702 Mean Difference (IV, Fixed, 95% CI) ‐0.03 [‐0.03, ‐0.02] 10 Number of exacerbations[doi.org]

    Missing: Autophagic Vacuoles Seen on Biopsy