scholarly journals A novel mutation in slc2a1 gene causing glut-1 deficiency syndrome in a young adult patient

2019 ◽  
Vol 61 (6) ◽  
pp. 946
Author(s):  
Ala Üstyol ◽  
Satoru Takahashi ◽  
Halil Uğur Hatipoğlu ◽  
Mehmet Ali Duman ◽  
Murat Elevli ◽  
...  
2001 ◽  
Vol 90 (6) ◽  
pp. 1070-1072
Author(s):  
Emi Tajima ◽  
Hidetsugu Mihara ◽  
Motohiro Wakabayashi ◽  
Masaya Watarai ◽  
Kazutaka Sugamura ◽  
...  

2017 ◽  
Vol 34 (6) ◽  
pp. 580-583 ◽  
Author(s):  
Rüya Çolak ◽  
Senem Alkan Özdemir ◽  
Ezgi Yangın Ergon ◽  
Mehtap Kağnıcı ◽  
Şebnem Çalkavur

2018 ◽  
Vol 66 (1) ◽  
pp. e27491 ◽  
Author(s):  
Shree Bose ◽  
Joanna Robles ◽  
Chad M. McCall ◽  
Anand S. Lagoo ◽  
Daniel S. Wechsler ◽  
...  

1986 ◽  
Vol 8 (6) ◽  
pp. 165-167
Author(s):  
James E. Rasmussen

Pearly penile papules are common but not commonly seen in a physician's office. These multiple, white, coronal papules are rarely, if ever, the source of a disease but may cause the adolescent and young adult patient some surprise when they are first noticed. "Discovery" may occur after careful self-examination following suspected contact with venereal disease, sexual exposure, masturbation, or other situations that may be associated with anxiety. Frequently, the patient believes that the lesions originated "overnight"; this is never the case and usually represents inaccurate observation. Lesions of pearly penile papules are characteristic in morphology and locale. They occur exclusively in postpubertal patients. Neinstein and Goldenring1 found pearly penile papules in 23 of 151 (15.2%) boys and men ranging from 11 to 22 years of age. Lesions were not noted in patients less than 14 years old or with a sexual maturity rating less than a Tanner 3. Glicksman and Freeman2 examined 229 men and found these lesions in 45 (20%). There does not appear to be any racial tendency, and whereas one series found a greater percentage in uncircumcised patients,2 a second could not substantiate this possibility.1 Although no surveys have been done in prepubertal patients, it is my clinical impression that these lesions do not occur in this age group.


Surgery Today ◽  
2007 ◽  
Vol 37 (8) ◽  
pp. 713-715 ◽  
Author(s):  
Shogo Tanaka ◽  
Daisuke Kubota ◽  
Sang Hum Lee ◽  
Kazuki Oba ◽  
Takatsugu Yamamoto ◽  
...  

2018 ◽  
Vol 34 (8) ◽  
pp. 1489-1495 ◽  
Author(s):  
Rohit Vadgaonkar ◽  
Sridhar Epari ◽  
Girish Chinnaswamy ◽  
Rahul Krishnatry ◽  
Raees Tonse ◽  
...  

2020 ◽  
Vol 11 (3) ◽  
pp. 364-365 ◽  
Author(s):  
Christopher R. Broda ◽  
Daniel A. Castellanos ◽  
Tam Dan N. Pham ◽  
W. Jeff Dreyer ◽  
Angeline D. Opina ◽  
...  

Fontan-associated protein-losing enteropathy is difficult to treat and associated with poor prognosis. Cardiac rehabilitation and exercise are thought to have beneficial effects for patients with Fontan circulation. We report the case of a young adult patient palliated to Fontan circulation, with a decade-long history of symptoms related to protein-losing enteropathy. At age 23 years, he appreciated an improvement in symptoms and laboratory values after cardiac rehabilitation and prescriptive exercise.


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