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Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar and Nalini Shah

Introduction Triple A syndrome (TAS, MIM #231550) or Allgrove’s syndrome is an autosomal recessive disorder, characterized by clinical triad of alacrima, adrenal insufficiency (AI) and achalasia cardia. TAS patients may have varied

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Ishita Gupta, Allal Ouhtit, Adil Al-Ajmi, Syed Gauhar A Rizvi, Hamad Al-Riyami, Marwa Al-Riyami and Yahya Tamimi

/lumpectomy in cryo-vials containing RNA later solution (Ambion, ThermoFisher Scientific) and stored at −80°C until use. Based on the patient information, the cases were classified into the four molecular subtypes as Luminal A, Luminal B, Her2+ and triple

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Caroline Culen, Diana-Alexandra Ertl, Katharina Schubert, Lisa Bartha-Doering and Gabriele Haeusler

Introduction Turner syndrome (TS) is caused by structural anomalies in or complete loss of the X-chromosome (45X). Although a rare disease with an incidence of 1 in 2500 female births, it is nevertheless the most common sex chromosome

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Myrtille Fouché, Yves Bouffard, Mary-Charlotte Le Goff, Johanne Prothet, François Malavieille, Pierre Sagnard, Françoise Christin, Davy Hayi-Slayman, Arnaud Pasquer, Gilles Poncet, Thomas Walter and Thomas Rimmelé

Introduction Small-bowel neuroendocrine tumours (SB-NETs) are rare secreting neoplasms. Hormones (serotonin, histamine, bradykinin, prostaglandins and chromogranin-A) released into the systemic circulation can lead to a carcinoid syndrome (CS

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Ladan Younesi, Zeinab Safarpour Lima, Azadeh Akbari Sene, Zahra Hosseini Jebelli and Ghazaleh Amjad

NICU admission; moreover, their mortality rate is also tripled ( 12 ). In addition to metabolic and cardiovascular disorders, psychological disorders and a decrease in the quality of life can be observed in PCOS patients, compared to healthy women

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Soraya Puglisi, Paola Perotti, Mattia Barbot, Paolo Cosio, Carla Scaroni, Antonio Stigliano, Pina Lardo, Valentina Morelli, Elisa Polledri, Iacopo Chiodini, Giuseppe Reimondo, Anna Pia and Massimo Terzolo

Introduction Cushing’s syndrome (CS) is a condition of endogenous hypercortisolism caused by different pathological entities that is classified in two variants: (i) ACTH-dependent CS, due to a corticotroph pituitary adenoma or an ectopic tumor

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T P McVeigh, R J Mulligan, U M McVeigh, P W Owens, N Miller, M Bell, F Sebag, C Guerin, D S Quill, J B Weidhaas, M J Kerin and A J Lowery

predispose to both types of malignancy as part of the PTEN hamartoma tumour syndrome ( 6 ). A relationship between BC and benign thyroid disease has also been hypothesised ( 7 ), given the common iodine transport mechanism ( 8 , 9 ), prevalence of anti

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Anita Hokken-Koelega, Aart-Jan van der Lely, Berthold Hauffa, Gabriele Häusler, Gudmundur Johannsson, Mohamad Maghnie, Jesús Argente, Jean DeSchepper, Helena Gleeson, John W Gregory, Charlotte Höybye, Fahrettin Keleştimur, Anton Luger, Hermann L Müller, Sebastian Neggers, Vera Popovic-Brkic, Eleonora Porcu, Lars Sävendahl, Stephen Shalet, Bessie Spiliotis and Maithé Tauber

deficiency; IGF-I, insulin-like growth factor I; PWS, Prader–Willi syndrome; QoL, quality of life; SGA, small for gestational age; TS, Turner syndrome. Discussion We have learned that even amongst a group of healthcare professionals who have

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Natasha Bergmann, Søren Ballegaard, Pernille Holmager, Per Bech, Åke Hjalmarson, Finn Gyntelberg and Jens Faber

post-traumatic stress syndrome (12, 13) . Among the sub-items of the physical SF-36 questionnaire was a question of body pain. This parameter was not changed due to the presence of diabetes, and it might be speculated if the reduced score of overall

Open access

Kathrin Zopf, Kathrin R Frey, Tina Kienitz, Manfred Ventz, Britta Bauer and Marcus Quinkler

outpatient clinic on a regular basis (on average, every six months). All patients were instructed on glucocorticoid dose adaptation: Doubling the replacement dose in the case of minor stress like flu-like symptoms, tripling or quadrupling the dose in the case