scholarly journals Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation

Brain ◽  
2017 ◽  
Vol 140 (10) ◽  
pp. e65-e65 ◽  
Author(s):  
Mert Karakaya ◽  
Neda Mazaheri ◽  
Ipek Polat ◽  
Diana Bharucha-Goebel ◽  
Sandra Donkervoort ◽  
...  
Author(s):  
Kimberly A. Kripps ◽  
Leighann Sremba ◽  
Austin A. Larson ◽  
Johan L.K. Van Hove ◽  
Hoanh Nguyen ◽  
...  

1997 ◽  
Vol 11 (5) ◽  
pp. 445-448 ◽  
Author(s):  
Ban CH Tsui ◽  
J Mossey

Two uncommon cases of foreign body (a wooden clothespin and a toothpick) perforation of the gut with associated pyogenic liver abscesses are presented. These cases illustrate the difficulties of preoperative diagnosis. The lack of history of ingestion of foreign bodies, variable clinical presentation of the conditions and radiolucent natures of the foreign bodies all play a role in impeding the diagnosis preoperatively. This report emphasizes the role of ultrasound and computed tomographic scan in evaluating similar cases. Any patient with known risk factors for ingestion of foreign body should arouse suspicion and be investigated further.


2015 ◽  
Vol 87 (8) ◽  
Author(s):  
Marta Fijałkowska ◽  
Bogusław Antoszewski

AbstractIn 1976 Dr. Paul Tessier described numeric classification for rare craniofacial clefts. He first emphasized that a fissure of the soft tissue corresponds, as a general rule, to a cleft of the bony structure. The classification, easy to understand, became widely accepted because the recording of the malformations was simple and facilitated communication between observers.was to present our own experience with treatment of patients with rare facial clefts.Our Department has 11 patients with rare craniofacial clefts under its care. This group includes 8 boys and 3 girls. The patients aged from 2 months to 18 years at the time of the first consultation.In two patients the cleft was median, in seven patients it was one-sided and in two – bilateral. The most common type of cleft was number 6, and the rarest were 2, 3, and 7. All patients underwent surgical treatment.Atypical facial clefts are rare congenital anomalies, however because of functional and aesthetic disturbances they constitute a serious medical and therapeutic problem. Facial clefts are characterized by variable clinical presentation and require individualized treatment plan.


2009 ◽  
Vol 67 (3a) ◽  
pp. 664-667 ◽  
Author(s):  
Mirella Martins Fazzito ◽  
Sérgio Semeraro Jordy ◽  
Charles Peter Tilbery

Multiple sclerosis (MS) is a demyelinating disease showing variable clinical presentation. Optic neuritis is the most common symptom, followed by motor and sensitive manifestations. It is known that this disease may be related to several psychiatric disorders, especially depression. In this study we will discribe 5 cases of MS patients harboring psychiatric disorder related or unchained by the disease itself.


2012 ◽  
Vol 3 (2) ◽  
pp. 37-38
Author(s):  
Sharmin Ferdousi ◽  
SM Badruddoza

Paraganglioma or glomus tumour are named according to their origin. Jugulotympanic  paragangliomas (JTP) originates in the middle ear. There are several diagnostic pitfalls of this tumour. We now report a rare case of JTP in a 47 years old female. Pre-operative diagnosis of this case was chronic suppurative otitis media, Per-operatively it revealed an irregular     somewhat polypoid mass. On histologic examination the mass composed of nests of round to oval cells surrounded by delicate vascular septae and the diagnosis was JTP. Because JTPs are rare tumour and have variable clinical presentation & different histologic findings they are easy to misdiagnose. However this case report may help to generate awareness and to avoid misinterpretation of JTPs.   DOI: http://dx.doi.org/10.3329/akmmcj.v3i2.11693   AKMMC J 2012: 3(2): 37-38  


2020 ◽  
Vol 80 (2) ◽  
pp. 182-189
Author(s):  
Helen Campbell ◽  
Nick Andrews ◽  
Sydel Parikh ◽  
Sonia Ribeiro ◽  
Steve Gray ◽  
...  

Brain ◽  
2007 ◽  
Vol 130 (5) ◽  
pp. 1360-1374 ◽  
Author(s):  
J. B. Leverenz ◽  
C. E. Yu ◽  
T. J. Montine ◽  
E. Steinbart ◽  
L. M. Bekris ◽  
...  

2015 ◽  
Vol 25 ◽  
pp. S285
Author(s):  
R. Guimarães-Costa ◽  
P. Latour ◽  
X. Ferrer ◽  
G. Solé ◽  
I. Husson ◽  
...  

1998 ◽  
Vol 21 (6) ◽  
pp. 631-638 ◽  
Author(s):  
K. M. Gibson ◽  
R. S. Wappner ◽  
S. Jooste ◽  
E. Erasmus ◽  
L. J. Mienie ◽  
...  

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