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Marianne C Astor, Kristian Løvås, Anette S B Wolff, Bjørn Nedrebø, Eirik Bratland, Jon Steen-Johnsen and Eystein S Husebye

Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder characterized by neuromuscular symptoms in infancy due to extremely low levels of serum magnesium and moderate to severe hypocalcemia. Homozygous mutations in the magnesium transporter gene transient receptor potential cation channel member 6 (TRPM6) cause the disease. HSH can be misdiagnosed as primary hypoparathyroidism. The aim of this study was to describe the genetic, clinical and biochemical features of patients clinically diagnosed with HSH in a Norwegian cohort. Five patients in four families with clinical features of HSH were identified, including one during a national survey of hypoparathyroidism. The clinical history of the patients and their families were reviewed and gene analyses of TRPM6 performed. Four of five patients presented with generalized seizures in infancy and extremely low levels of serum magnesium accompanied by moderate hypocalcemia. Two of the patients had an older sibling who died in infancy. Four novel mutations and one large deletion in TRPM6 were identified. In one patient two linked homozygous mutations were located in exon 22 (p.F978L) and exon 23 (p.G1042V). Two families had an identical mutation in exon 25 (p.E1155X). The fourth patient had a missense mutation in exon 4 (p.H61N) combined with a large deletion in the C-terminal end of the gene. HSH is a potentially lethal condition that can be misdiagnosed as primary hypoparathyroidism. The diagnosis is easily made if serum magnesium is measured. When treated appropriately with high doses of oral magnesium supplementation, severe hypomagnesemia is uncommon and the long-term prognosis seems to be good.

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Zeming Liu, Di Hu, Yihui Huang, Sichao Chen, Wen Zeng, Ling Zhou, Wei Zhou, Min Wang, Haifeng Feng, Wei Wei, Chao Zhang, Danyang Chen and Liang Guo

with that in adults ( 7 ), and nodules self-discovered by families represent 41% of diagnosed cases. Of these, 64% had lymph node metastasis, and 7% had pulmonary metastasis ( 8 ), indicating that distant metastasis at first prognosis comprises a large

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Hanbaro Kim, Ki Byung Song, Dae Wook Hwang, Jae Hoon Lee, Shadi Alshammary and Song Cheol Kim

, poorly differentiated neuroendocrine carcinomas are recurrent and have a poor prognosis. However, there have been only a few large-sample studies investigating the pattern and prognostic factors of recurrence of PNETs. The aim of this study was to

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Federica Saponaro, Alessandro Saba, Sabina Frascarelli, Concetta Prontera, Aldo Clerico, Marco Scalese, Maria Rita Sessa, Filomena Cetani, Simona Borsari, Elena Pardi, Antonella Marvelli, Claudio Marcocci, Claudio Passino and Riccardo Zucchi

Introduction Heart failure (HF) is a complex and chronic condition and despite advances in therapeutic options, its prognosis remains poor, with high mortality and morbidity. Vitamin D (VitD) has been recently emerged as a factor for HF risk

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Lauren E Henke, John D Pfeifer, Thomas J Baranski, Todd DeWees and Perry W Grigsby

Introduction Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy, accounting for 88% of thyroid carcinomas ( 1 , 2 ). Prognosis remains excellent and treatment, typically involving surgery followed by radioactive iodine

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Xinlei Chen, Liru Hu, Caojie Liu, Guangcheng Ni and Yuwei Zhang

 = 0.127) or in the length of preparation ( P  = 0.281) between groups, which ruled out the influence of medication to the IHD and prognosis. Intraoperative and postoperative courses During the operation, blood pressure fluctuation was observed

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Joana Simões-Pereira, Daniel Macedo and Maria João Bugalho

Introduction Thyroid cancer usually has a favorable prognosis with a reported 10-year survival for differentiated and medullary thyroid carcinoma of approximately 80–95% ( 1 ) and 68–85% ( 2 , 3 ), respectively. Distant metastases occur in a

Open access

Samira M Sadowski, Emanuel Christ, Benoit Bédat, Attila Kollár, Wolfram Karenovics, Aurel Perren, Frédéric Triponez and on behalf of the SwissNET registry

), which are considered intermediate-grade tumors. Small-cell lung cancer and large-cell neuroendocrine carcinoma of the lung are considered high-grade neoplasms according to the WHO 2015 classification ( 3 ), with poor prognosis. Rindi and coworkers ( 4

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María J Gómora, Flavia Morales-Vásquez, Enrique Pedernera, Delia Perez-Montiel, Horacio López-Basave, Antonio R Villa, Azucena Hernández-Martínez, Esteban Mena and Carmen Mendez

-negative ones, supporting previous findings of a better prognosis for ER-positive ovarian carcinoma ( 32 , 33 ). On the other hand, a reduction in the proliferation index of ovarian HGSC is observed in only ER positive tumors versus only AR positive; again

Open access

Magaly Zappa, Olivia Hentic, Marie-Pierre Vullierme, Matthieu Lagadec, Maxime Ronot, Philippe Ruszniewski and Valérie Vilgrain

for the management of neuroendocrine liver metastases, both for prognosis and treatment ( 4 , 6 , 9 , 15 , 16 ). Although there is no standardised imaging method to reliably measure liver tumour burden, the ENETS Consensus Guidelines state that