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8,662 Possible Causes for Autophagic Vacuoles Seen on Biopsy, Italian, Short Stature

  • Thalassemia

    For instance, patients may be of short stature or have bone deformities or impaired fertility—all of which could affect how they think of themselves and how they think others[celgene.com] There are two main types of thalassemia trait: beta-thalassemia trait (more common among Italians) and alpha thalassemia trait.[icf.org] Short stature was seen in two-thirds of cases. Longitudinal data were available for only a few cases.[ojrd.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Adult Krabbe Disease

    stature (achondroplasia, Jeune, multiple exostoses, hormonal short stature, other forms) Dysautonomia Dystonia Ectodermal dysplasia Ehlers Danlos syndrome (& cutis laxa)[kumc.edu] Recently it has been reported to account for 18% of the disease alleles in an Italian cohort of patients.[ncbi.nlm.nih.gov] Bang バング Bang's disease バング病 Banti バンチ Banti's syndrome バンチ症候群 Guido Banti(1852-1925) Italian physician and pathologist Barany バラニー Barany's pointing test バラニー指示試験 Bardet-Biedl[jams.med.or.jp]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Fucosidosis

    At age 12, he could not walk without help; he was admitted to the hospital with intellectual disability, short stature and coarse facial features.[ncbi.nlm.nih.gov] 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] The clinical examination revealed short stature, coarse facial features, bilateral ptosis, hypertonic lower extremities, psychomotor retardation and asthma.[omicsonline.org]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Mowat-Wilson Syndrome

    Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital[ncbi.nlm.nih.gov] We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already[ncbi.nlm.nih.gov] stature, and genitourinary anomalies.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • CINCA Syndrome

    Figure 3: Growth retardation and short stature occur due to the chronic arthritis and steroid therapy (height of 1.40 m at the age of 15; Figure 4: Short, thickened extremities[healio.com] ASC gene, encoding for a direct interactor of cryopyrin, was not mutated in Italian CINCA patients.[ncbi.nlm.nih.gov] Short stature, frontal bossing of the skull, characteristic flattening of the nasal bridge, clubbing of the fingers and delayed closure of the fontanelles (at age 10 years[jrheum.org]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • XXXXY Syndrome

    Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism.[ncbi.nlm.nih.gov] We report a new case of 49, XXXXY syndrome; the first Italian case to our knowledge.[ncbi.nlm.nih.gov] Though many boys showed short stature at some point in early childhood, most outgrew it.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Growth Failure

    Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov] Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.[frontiersin.org] References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal[amboss.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Rubinstein-Taybi Syndrome

    Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and short stature[ncbi.nlm.nih.gov] Translated title of the contribution The syndrome of Rubinstein Taybi associated with arthogryposis Original language Italian Pages (from-to) 161-172 Number of pages 12 Journal[moh-it.pure.elsevier.com] Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Pseudohypoparathyroidism

    The patient had short stature, brachydactyly, and subcutaneous heterotopic ossifications.[ncbi.nlm.nih.gov] 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 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
  • Malnutrition

    Some of the symptoms of severe malnutrition include short stature, low energy levels, and swollen legs and stomach (edema/ascites).[chop.edu] […] is a cross-sectional study, aiming to estimate the risk, the prevalence and the impact of malnutrition in an Internal Medicine and Gastroenterology Department of a large Italian[ncbi.nlm.nih.gov] stature.[britannica.com]

    Missing: Autophagic Vacuoles Seen on Biopsy

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