scholarly journals The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years

2019 ◽  
Vol 28 (4) ◽  
pp. 139-145
Author(s):  
Miwako Maeda ◽  
Tomoki Maeda ◽  
Ken Ebihara ◽  
Kenji Ihara
2017 ◽  
Vol 54 (3) ◽  
pp. 358-367 ◽  
Author(s):  
Momotoshi Shiga ◽  
Takuya Ogawa ◽  
Issareeya Ekprachayakoon ◽  
Keiji Moriyama

Marfan syndrome (MFS) is caused by abnormal systemic connective tissue. The main clinical manifestations include long limbs, long slender fingers, lens subluxation, abnormal cardiac valves, and aortic aneurysm. We report the case of an 11-year-old patient with MFS who underwent orthodontic treatment and was followed up until the age of 25 years. We found no significant differences in tooth movement between the patient with MFS and healthy subjects. However, because patients with MFS show characteristic facial growth and an increased risk of developing systemic comorbidities, their dental status requires careful observation over time.


Author(s):  
H Joshi ◽  
M Hikmat ◽  
A P Devadass ◽  
S O Oyibo ◽  
S V Sagi

Summary IgG4-related disease (IgG4-RD) is an immune-mediated fibro-inflammatory condition which can affect various organs including the pituitary gland. The true annual incidence of this condition remains widely unknown. In addition, it is unclear whether IgG4 antibodies are causative or the end result of a trigger. With no specific biomarkers available, the diagnosis of IgG4-related hypophysitis remains a challenge. Additionally, there is a wide differential diagnosis. We report a case of biopsy-proven IgG4-related hypophysitis in a young man with type 2 diabetes mellitus. Learning points: IgG4-related hypophysitis is part of a spectrum of IgG4-related diseases. Clinical manifestations result from anterior pituitary hormone deficiencies with or without diabetes insipidus, which can be temporary or permanent. A combination of clinical, radiological, serological and histological evidence with careful interpretation is required to make the diagnosis. Tissue biopsy remains the gold standard investigation. Disease monitoring and long-term management of this condition is a challenge as relapses occur frequently.


2012 ◽  
Author(s):  
Misa Iio ◽  
Kosuke Maeba ◽  
Takashi Shimazaki ◽  
Yukihiro Ohya ◽  
Koji Takenaka

2005 ◽  
Vol 43 (05) ◽  
Author(s):  
R Schwab ◽  
P Lakatos ◽  
E Schäfer ◽  
J Weltner ◽  
A Sáfrány ◽  
...  

Skull Base ◽  
2007 ◽  
Vol 17 (S 1) ◽  
Author(s):  
Tiit Mathiesen
Keyword(s):  

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