scholarly journals Refractory chylothorax due to thoracic duct stenosis in Noonan syndrome with RIT1 gene mutation: a case report and literature review

Author(s):  
Lei yang ◽  
Ying guo ◽  
Xinyi Xu ◽  
Xu Zhang ◽  
Wei Gao ◽  
...  

The occurrence of Noonan with refractory chylothorax with RIT1 gene mutation is very rare. The right lymphatic vessel and thoracic duct were compressed by the surrounding tissue, resulting in obstruction. After releasing the surrounding tissue, the chylothorax disappeared.

We report a very rare case of squamous cell cancer of the right foot which had metastasize to the ipsilateral popliteal lymph node after initial diagnosis and treatment for the loco-regional disease.


2009 ◽  
Vol 10 (1) ◽  
pp. 64-67 ◽  
Author(s):  
Giuseppe Talanas ◽  
Alberto Delpini ◽  
Gavino Casu ◽  
Ferruccio Bilotta ◽  
Rosanna Pes ◽  
...  

Author(s):  
A.L. Bedzhanyan ◽  
M.I. Bredikhin ◽  
T.N. Galyan ◽  
D.E. Arutyunyants ◽  
K.N. Petrenko ◽  
...  

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Manuela Quiroga-Carrillo ◽  
Cristian Correa-Arrieta ◽  
Fernando Ortiz-Corredor ◽  
Fernando Suarez-Obando

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.


2017 ◽  
Vol 103 (1_suppl) ◽  
pp. S25-S27 ◽  
Author(s):  
Xin Gao ◽  
Min Zhai ◽  
Haitao Zhang ◽  
Yunliang Wang ◽  
Jin Zhou

Bronchogenic cysts are congenital lesions developing during early embryogenesis. The intradiaphragmatic location is extremely rare. We present a giant bronchogenic cyst arising from the left crus of diaphragm. Based on our literature review results, intradiaphragmatic bronchogenic cysts have the following characteristics: 1) they are more common in female patients; 2) the patients are usually asymptomatic, or present with symptoms of chest pain, abdominal pain, and hiccups; 3) the cysts located in the left diaphragm are more than those in the right diaphragm, most of which are located in the area of the left diaphragm crus.


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