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2.1
Beardwell Syndrome
Familial Ankylosing Vertebral Hyperostosis with Tylosis

Presentation

Tylosis was present in all patients manifesting as punctate hyperkeratosis. One member had mild psoriasis. [accesspediatrics.mhmedical.com]

Shalet}, journal={Clinical Endocrinology}, year={1981}, volume={14} } Two patients presenting with diabetes mellitus and hypokalaemia resulting from markedly increased ACTH and cortisol secretion are described. [semanticscholar.org]

SHALET, Department of Endocrinology, Christie Hospital and Holt Radium Institute, Manchester, and Department of Medicine, Royal Lancaster Infirmary Search for more papers by this author First published: May 1981 Citations: 23 SUMMARY Two patients presenting [onlinelibrary.wiley.com]

Entire Body System

  • Short Stature

    […] bowel syndrome short QT syndrome + SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting Short Stature-Obesity [rgd.mcw.edu]

Psychiatrical

  • Behavior Disorder

    Short Stature INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES INTELLECTUAL [rgd.mcw.edu]

Neurologic

  • Speech Disorder

    Disorder with Impaired Speech and Hyperkinetic Movements NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY [rgd.mcw.edu]

  • Language Delays

    WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES Developmental Delay, Epilepsy, and Neonatal Diabetes DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES Developmental Disabilities + Devriendt syndrome Diaminopentanuria [rgd.mcw.edu]

  • Global Developmental Delay

    DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLUT1 Deficiency Syndrome GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 GLYCOSYLPHOSPHATIDYLINOSITOL [rgd.mcw.edu]

Treatment

[…] metyrapone treatment was stopped. [semanticscholar.org]

Only 4 studies have evaluated the efficacy of SRS as primary treatment of NS. [mdpi.com]

Therefore, BADX is generally considered the ultima ratio in CD treatment used when all other treatment options have failed. The use of BADX is highly variable between centers. [eje.bioscientifica.com]

Growth and final height after treatment for childhood Hodgkin disease. J Pediatr Hematol Oncol [Internet] 1996 [citado 29 marzo 2017]; 18(3):272–276. [passeidireto.com]

Prognosis

Document type Article Language English Keyword (fr) MELANOME MALIN METASTATIQUE PRONOSTIC CHAINE PEPTIDIQUE ALPHA HORMONE GLYCOPROTEINE SERUM PARANEOPLASIQUE SYNDROME SURVIE TUMEUR PEAU HOMME DERMATOLOGIE Keyword (en) MALIGNANT MELANOMA METASTATIC PROGNOSIS [pascal-francis.inist.fr]

Br J Surg. 1978; 65: 221-223 Scopus (15) PubMed Crossref Google Scholar Moore TJ Dluhy RG Williams GN Cain JP Nelson's syndrome: Frequency, prognosis and effect of prior pituitary irradiation. [surgjournal.com]

All authors agree that a more favorable prognosis with fewer complications after neurosurgery occurs in microadenomas and intrasellar macroadenomas, whereas large tumors with cavernous sinus invasion have a low chance of complete tumor excision (62). [eje.bioscientifica.com]

Etiology

Moreover, the sequential occurrence of sarcoidosis after adrenalectomy suggests an etiological link between these two rare disorders. (Internal Medicine 31 : 1329- 1334, 1992) [jstage.jst.go.jp]

Pathophysiology

Polycystic ovaries in non-obese and obese patients: possible pathophysiological mechanism based on new interpretsation of facts and findings. Hum Reprod. 1993; 8: 379. Jalkanan J., Suikkari AM., Koistinen R., et al. [encolombia.com]

Cushing's syndrome due to unilateral nodular adrenal hyperplasia: a new pathophysiological entity?. [surgjournal.com]

Nelson syndrome: Comprehensive review of pathophysiology, diagnosis, and management. Neurosurg. Focus 2007, 23, E13. [Google Scholar] [CrossRef] Hofland, L.J.; Lamberts, S.W.; Feelders, R.A. [mdpi.com]

Prevention

& Curzon, G. (1968) Decrease of 5-hydroxytryptamine in the brain provoked by hydrocortisone and its prevention by allopurinol. Nature, 220, 1095–7.CrossRefGoogle ScholarPubMed Green, A. R., Woods, H. F., Knott, P. [cambridge.org]

In particular, the therapeutic effect of radiosurgery to prevent corticotroph tumor progression needs to be examined by further studies. [eje.bioscientifica.com]

Rosiglitazone for prevention or adjuvant treatment of Nelson’s syndrome after bilateral adrenalectomy. Eur. J. Endocrinol. 2005, 153, 503–505. [Google Scholar] [CrossRef] Jialal, I.; Pillay, N.L. [mdpi.com]

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