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 ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Charcot Marie Tooth ◽  
Variable Clinical Presentation

Methionine Synthase Deficiency: Variable Clinical Presentation And Benefit Of Early Diagnosis And Treatment

2021 ◽  
Author(s):  
Kimberly A. Kripps ◽  
Leighann Sremba ◽  
Austin A. Larson ◽  
Johan L.K. Van Hove ◽  
Hoanh Nguyen ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Clinical Presentation ◽  
Methionine Synthase ◽  
Diagnosis And Treatment ◽  
Variable Clinical Presentation

scholarly journals Occult Liver Abscess Following Clinically Unsuspected Ingestion of Foreign Bodies

1997 ◽  
Vol 11 (5) ◽  
pp. 445-448 ◽  
Author(s):  
Ban CH Tsui ◽  
J Mossey
Keyword(s):  
Foreign Body ◽  
Preoperative Diagnosis ◽  
Foreign Bodies ◽  
Clinical Presentation ◽  
Computed Tomographic ◽  
Liver Abscesses ◽  
Computed Tomographic Scan ◽  
History Of ◽  
Variable Clinical Presentation

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.

Rare Facial Clefts

2015 ◽  
Vol 87 (8) ◽  
Author(s):  
Marta Fijałkowska ◽  
Bogusław Antoszewski
Keyword(s):  
Surgical Treatment ◽  
Soft Tissue ◽  
Clinical Presentation ◽  
Treatment Plan ◽  
General Rule ◽  
Common Type ◽  
Facilitated Communication ◽  
Facial Clefts ◽  
Therapeutic Problem ◽  
Variable Clinical Presentation

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.

scholarly journals Psychiatric disorders in multiple sclerosis patients

2009 ◽  
Vol 67 (3a) ◽  
pp. 664-667 ◽  
Author(s):  
Mirella Martins Fazzito ◽  
Sérgio Semeraro Jordy ◽  
Charles Peter Tilbery
Keyword(s):  
Multiple Sclerosis ◽  
Psychiatric Disorder ◽  
Optic Neuritis ◽  
Psychiatric Disorders ◽  
Clinical Presentation ◽  
Demyelinating Disease ◽  
Common Symptom ◽  
Multiple Sclerosis Patients ◽  
Variable Clinical Presentation

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.

scholarly journals Jugulotympanic Paraganglioma, Mimicking Chronic Suppura tive Otitis Media

2012 ◽  
Vol 3 (2) ◽  
pp. 37-38
Author(s):  
Sharmin Ferdousi ◽  
SM Badruddoza
Keyword(s):  
Otitis Media ◽  
Rare Case ◽  
Clinical Presentation ◽  
Glomus Tumour ◽  
Oval Cells ◽  
Polypoid Mass ◽  
Rare Tumour ◽  
Suppurative Otitis Media ◽  
Variable Clinical Presentation ◽  
Diagnostic Pitfalls

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  

Variable clinical presentation by the main capsular groups causing invasive meningococcal disease in England

2020 ◽  
Vol 80 (2) ◽  
pp. 182-189
Author(s):  
Helen Campbell ◽  
Nick Andrews ◽  
Sydel Parikh ◽  
Sonia Ribeiro ◽  
Steve Gray ◽  
...  
Keyword(s):  
Meningococcal Disease ◽  
Clinical Presentation ◽  
Invasive Meningococcal Disease ◽  
Variable Clinical Presentation

scholarly journals A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology

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

Charcot–Marie–Tooth type 4B1 (MTMR2 gene): Confounding clinical presentation and report of 5 original mutations

2015 ◽  
Vol 25 ◽  
pp. S285
Author(s):  
R. Guimarães-Costa ◽  
P. Latour ◽  
X. Ferrer ◽  
G. Solé ◽  
I. Husson ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Charcot Marie Tooth ◽  
Tooth Type

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency

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