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7,826 Possible Causes for Autophagic Vacuoles Seen on Biopsy, Italian, Short Stature in Children

  • Cooley's Anemia

    Thalassemia is a hereditary disease that affected Italians and Greeks but now is spread over the world.[capegazette.com] .  Approximately 25 percent of children and adults, regardless of their thalassemia syndrome, had short stature.  Patients with beta thalassemia major had higher rates of[de.slideshare.net] Cooley’s anemia is disproportionately represented among people of Italian heritage.[marinolodge.org]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Growth Failure

    Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.[frontiersin.org] […] lead to short stature.[rileychildrens.org] Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Vitamin D Deficiency

    The Italian Association of Clinical Endocrinologists appointed a task force to review literature about vitamin D deficiency in adults.[ncbi.nlm.nih.gov] Copyright 2017 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical[ncbi.nlm.nih.gov] Castello R 4, Chiodini I 5, 6, Falchetti A 7, Guglielmi R 8, Papini E 9, Santonati A 10, Scillitani A 11, Toscano V 12, Triggiani V 13, Vescini F 14, Zini M 15 ; AME and Italian[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Growth Hormone Deficiency

    Here we report the data from the Italian patients enrolled in the study.[ncbi.nlm.nih.gov] Short stature is one of the clinical manifestations in these children.[ncbi.nlm.nih.gov] Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrome.Here we describe the growth and evolution of dismorphic features of an Italian boy with[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • 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] 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] Abstract A significant proportion of patients affected with fucosidosis have Italian ancestors.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Cri Du Chat Syndrome

    Abstract The aim of this report is to provide an update on the natural history of the Cri du Chat Syndrome by means of the Italian Register (I.R.).[ncbi.nlm.nih.gov] Babies Characteristic high pitched cry at birth Low birth weight Poor muscle tone Developmental delay Small head Round "moon" face Children Small thin build and short stature[members.tripod.com] Using data on the development of a group of CdC patients obtained by validated Italian translation for the Denver Developmental Screening Test II, we compared a group of 13[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Chronic Kidney Insufficiency

    Financial Exams Medical & Nursing Certifications Military Exams Technology Certifications TOEFL Other Certifications Foreign Languages Arabic Chinese French German Hebrew Italian[brainscape.com] Therefore, children with CKD are at risk for short stature, bone curvature, and poor mineralization (“renal rickets” is the equivalent term for adult osteomalacia).[emedicine.medscape.com] […] levels Low-turnover bone disease (adynamic bone disease) Defective mineralization (osteomalacia) Mixed disease Beta-2-microglobulin–associated bone disease Bone disease in children[emedicine.medscape.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • SHOX-Related Short Stature

    Italian Study Group for Turner Syndrome. J. Clin. Endocrinol. Metab. 1999, 84 : 4510–4515. PubMed Google Scholar 24. Binder G., Schwarze C.P., Ranke M.B.[link.springer.com] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] Functional characterization of the novel mutation IVS 8 (-11delC) (-14T A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type[jmg.bmj.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Pseudohypoparathyroidism

    In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology[ncbi.nlm.nih.gov] We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature[ncbi.nlm.nih.gov] We investigated Gsα-coding GNAS exons in a large panel of PHP-Ia-PPHP patients collected over the past decade in the two Italian referring centers for PHP.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Adrenogenital Syndrome

    […] bab.la Dictionary English-Italian A adrenogenital syndrome "adrenogenital syndrome" translation into Italian EN volume_up adrenogenital syndrome {noun} IT sindrome adrenogenitale[en.bab.la] […] incidence is approximately 1 15,000 ). [6] Continued treatment and wellness is enhanced by education and follow up. [19] History [ edit ] Before 20th century [ edit ] An Italian[en.wikipedia.org] It appears to happen more often in people of Ashkenazi Jewish, Hispanic, Slavic and Italian background. Does CAH go by any other names?[newbornscreening.info]

    Missing: Autophagic Vacuoles Seen on Biopsy