Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA
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Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA
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Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA
Pituitary Center, Oregon Health & Science University, Portland, Oregon, USA
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Introduction Acromegaly is a rare disease that is caused by excessive growth hormone (GH) secretion by a pituitary adenoma ( 1 , 2 , 3 ). The clinical picture of active acromegaly is characterized by a combination of symptoms, signs, and
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
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Division of Auxology and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piancavallo (VB), Italy
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Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
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Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
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the radius/ulna and hand in the most severe cases. All patients exhibit diminished or absent axillary hair and reduced or absent perspiration as further signs of the involvement of apocrine glands; lactation may be absent ( 3 ). Despite the lack of
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Department of Endocrinology, Ull Care A/S, Psychiatric Research Unit, The Cardiovascular Institute, The National Research Center for the Working Environment, Faculty of Health and Medical Sciences, Herlev University Hospital, Herlev, Denmark
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stress both alone and in combination with a score of clinical stress signs (CSSs) (8, 9) . A high PPS has previously been found to correlate with well-known stress reactions such as blood pressure, pulse rate, and work of the heart in healthy individuals
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/biochemical/radiological diagnosis of ACT in all cases. The duration of ACT signs reflected the period between the family’s perception of clinical signs and the diagnosis of ACT. The main clinical presentation was divided as: asymptomatic; unspecific signs – weight loss, fever
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Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland
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PPGLs are caused by the excessive production of catecholamines and include headache, palpitations and sweating together with intermittently or persistently elevated blood pressure ( 5 ). While the presence of typical signs and symptoms has some
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Paris Saclay University, AP-HP, DMU SEA, Endocrinology and Diabetes for Children, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, INSERM-U1185, Le Kremlin Bicêtre, France
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APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, Inserm U1163, Institute Imagine, Paris, France
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APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, URP2496, Paris, France
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Université de Paris Laboratoire ECEVE INSERM, UMR1123, Hôpital Robert Debré, Paris, France
Centre de Reference, Maladies Orales et Dentaires Rares, Hôpital Rothschild, APHP, Paris, France
Filière de Santé Maladies Rares TETECOU, Malformations Rares de la tête, du cou et des dents, Hôpital Necker, Paris, France
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the intestines due to impaired vitamin D activation ( 4 ). Signs of XLH typically manifest in the first 2 years of life when bowed legs become apparent with the onset of weight-bearing. Other signs/symptoms include impaired growth, bone tenderness
Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK
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Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
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Department of Hepatology and Liver Transplantation, University Hospitals Birmingham (Queen Elizabeth), NHS Hospitals Foundation Trust, Birmingham, UK
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heart (around 90% of cases), likely due to pulmonary inactivation of the vasoactive substances, resulting in right heart failure. Presentation, clinical assessment and diagnosis Cardiac symptoms and signs are often lacking or are subtle until CHD
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NIHR/Wellcome Trust Clinical Research Facility, Addenbrookes Hospital, Cambridge, UK
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NIHR/Wellcome Trust Clinical Research Facility, Addenbrookes Hospital, Cambridge, UK
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°C) without bedding. All participants were asked to remain awake and inactive. To enable thermal imaging, male subjects had a bare torso and women wore a boob tube for the remainder of the experiment. Baseline indirect calorimetry, vital signs, cold
National Center for Children’s Health, Beijing, China
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National Center for Children’s Health, Beijing, China
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National Center for Children’s Health, Beijing, China
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National Center for Children’s Health, Beijing, China
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National Center for Children’s Health, Beijing, China
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National Center for Children’s Health, Beijing, China
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National Center for Children’s Health, Beijing, China
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National Center for Children’s Health, Beijing, China
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weight gain and obesity, typically gaining 20–30 pounds of weight within 3–12 months ( 5 , 6 ). Rapid weight gain is therefore considered the first sign of ROHHAD syndrome, followed by at least one phenotype of hypothalamic dysfunction, such as pituitary
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/or kidney failure; cancer; pregnancy; lactation; or refusal to participate in the study. All of the patients signed a legal informed consent to participate in the study. The Local Ethics Committee (LEC) FGBI NRCPM Ministry of Healthcare, Russian Federation