scholarly journals Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Manuela Capozza ◽  
Iolanda Chinellato ◽  
Vito Guarnieri ◽  
Natascia Di Iorgi ◽  
Maria Accadia ◽  
...  

In the published article [1], an error has been noticed in the author group section.

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A188-A188
Author(s):  
Sahar A Elsheikh ◽  
Henry M Blunk ◽  
Scott Wilhelm

Abstract Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder caused by dysfunctional calcium homeostasis. Thus far, three types of FHH are known to be caused by mutations inCASR (FHH1), GNA11 (FHH2), and AP2S1 (FHH3). The patient in this case report is a 36-year old male that initially presented for a second opinion after being diagnosed with Primary Hyperparathyroidism(PHPT) with subsequent parathyroidectomy done at another institute, and developed recurrent symptomatic hypercalcemia. Prior to considering this patient for further surgical options, he underwent genetic testing, which revealed he had c.43C>T (p.Arg15Cys) mutation in the AP2S1 gene diagnostic of Familial Hypocalciuric Hypercalcemia Type 3 (FHH3). The patient’s father and sister also have hypercalcemia, and have been offered genetic testing. There have been cases reported of patients with FHH3 that have symptomatic hypercalcemia and that have associated cognitive issues. Many patients with FHH can be misdiagnosed and may undergo unnecessary parathyroidectomy. This case report further elucidates the need to raise awareness of FHH.


2018 ◽  
Vol 5 (6) ◽  
pp. 2368
Author(s):  
Zahir Hussain S. ◽  
Rakesh Chandru K.

Primary hyperparathyroidism is an endocrine condition characterized by hyper secretion of parathyroid hormone (PTH). It has a wide varied clinical presentation from mild nonspecific symptoms to classical disease. We herein report two cases of primary hyperparathyroidism who were presented as hypokalemic periodic paralysis. The aim of this case report is to highlight this unusual presentation of primary hyperparathyroidism. Patients presenting with hypokalemic periodic paralysis should be evaluated for the possibility of primary hyperparathyroidism. Surgeons should be aware of this unusual presentation of primary hyperparathyroidism thereby it can be detected earlier, and prompt treatment can be offered before the disease progresses.


2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Manuela Capozza ◽  
Iolanda Chinellato ◽  
Vito Guarnieri ◽  
Natascia Di lorgi ◽  
Maria Accadia ◽  
...  

2017 ◽  
Author(s):  
Laura Gianotti ◽  
Elena Castellano ◽  
Francesco Tassone ◽  
Claudia Baffoni ◽  
Flora Cesario ◽  
...  

2019 ◽  
Author(s):  
Eithar Deyab ◽  
Muhammad Esakji ◽  
Neil Rabin ◽  
Ravi Menon ◽  
Girish Rayanagoudar

2019 ◽  
Author(s):  
Bianca Ioan ◽  
Ioana Ambarus ◽  
Laura Feraru ◽  
Alina Chelaru ◽  
Madalina Protop ◽  
...  

2020 ◽  
Vol 02 ◽  
Author(s):  
Masood Ghori ◽  
Nadya O. Al Matrooshi ◽  
Samir Al Jabbari ◽  
Ahmed Bafadel ◽  
Gopal Bhatnagar

: Infective Endocarditis (IE), a known complication of hemodialysis (HD), has recently been categorized as Healthcare-Associated Infective Endocarditis (HAIE). Single pathogen bacteremia is common, polymicrobial endocardial infection is rare in this cohort of the patients. We report a case of endocarditis caused by Enterococcus faecalis (E. faecalis) and Burkholderia cepacia (B. cepacia), a first ever reported combination of a usual and an unusual organism, respectively, in a patient on HD. Clinical presentation of the patient, its complicated course ,medical and surgical management ,along with microbial and echocardiographic findings is presented herein. The authors believe that presentation of this case of HAIE may benefit and contribute positively to cardiac science owing to the rare encounter of this organism as a pathogen in infective endocarditis and the difficulties in treating it.


Author(s):  
Devasee Borakhatariya ◽  
A. B. Gadara

Oesophageal disorders are relatively uncommon in large animals. Oesophageal obstruction is the most frequently encountered clinical presentation in bovine and it may be intraluminal or extra luminal (Haven, 1990). Intraluminal obstruction or “choke” is the most common abnormality that usually occurs when foreign objects, large feedstuff, medicated boluses, trichobezoars, or oesophageal granuloma lodge in the lumen of the oesophagus. Oesophageal obstructions in bovine commonly occur at the pharynx, the cranial aspect of the cervical oesophagus, the thoracic inlet, or the base of the heart (Choudhary et al., 2010). Diagnosis of such problem depends on the history of eating particular foodstuff and clinical signs as bloat, tenesmus, retching, and salivation


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