GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description

2018 ◽  
Vol 58 (5) ◽  
pp. 700-707 ◽  
Author(s):  
Hadil Alrohaif ◽  
Oksana Pogoryelova ◽  
Abdullah Al-Ajmi ◽  
Lulwa A. Aljeryan ◽  
Nuwayer H. Alrashidi ◽  
...  
Keyword(s):  
Gne Myopathy ◽  
Clinical Description

Clinical description and management in a series of macroprolactinomas

2020 ◽  
Author(s):  
Lourdes García-García-Doncel ◽  
Gloria Baena-Nieto ◽  
Rosa Marquez-Pardo
Keyword(s):  
Clinical Description

Neurological Complications Induced by Anti-PD-1 or Anti-PD-L1: Prevalence, Clinical Description and Treatment: 5-Years Experience of a National Network

2019 ◽  
Author(s):  
Léo Plaçais ◽  
Jean-Marie Michot ◽  
Stephane Champiat ◽  
Patricia Romano-Martin ◽  
Capucine Baldini ◽  
...  
Keyword(s):  
Neurological Complications ◽  
National Network ◽  
Clinical Description

Hoarding Disorder in DSM-5: Clinical description and cognitive approach

Psychiatriki ◽  
2017 ◽  
Vol 28 (2) ◽  
pp. 131-141 ◽  
Author(s):  
L. Kalogeraki ◽  
I. Michopoulos
Keyword(s):  
Cognitive Approach ◽  
Hoarding Disorder ◽  
Dsm 5 ◽  
Clinical Description

Thigh and Leg Muscle MRI Findings in GNE Myopathy

2021 ◽  
pp. 1-8
Author(s):  
Farzad Fatehi ◽  
Soroor Advani ◽  
Ali Asghar Okhovat ◽  
Bentolhoda Ziaadini ◽  
Hosein Shamshiri ◽  
...  
Keyword(s):  
Tibialis Anterior ◽  
Vastus Lateralis ◽  
Fatty Infiltration ◽  
Muscular Dystrophies ◽  
Tibialis Posterior ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Fat Infiltration ◽  
Gne Myopathy ◽  
Adductor Magnus

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration. Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations. Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients. Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis. Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T >  C (p.M743T) mutation; however, this finding may be related to longer disease duration.

scholarly journals Vici syndrome in an Egyptian infant: case report and differential diagnosis of inherited hypopigmented disorders

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Marwa Abd Elmaksoud ◽  
Aya Attya Abeesh ◽  
Catarina Pereira ◽  
Marwa El-Saeed El-Deeb
Keyword(s):  
Differential Diagnosis ◽  
Corpus Callosum ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Phenotype Correlation ◽  
Multisystem Disease ◽  
Case Presentation ◽  
Correlation Studies ◽  
Clinical Description ◽  
Infant Case

Abstract Background Vici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency followed by confirmation by genetic testing. We report an Egyptian infant with Vici syndrome carrying a homozygous splice site variant (c.1252+1G>T; NM_020964.2) in the EPG5 gene, detailed clinical description, outcome, and differential diagnosis of inherited hypopigmentation disorders associated with neurological manifestations. Case presentation The infant initially presented with oculocutaneous hypopigmentation, agenesis of the corpus callosum, and immunodeficiency. A few months later, a diagnosis of dilated cardiomyopathy was made. Family history revealed 2 deceased siblings phenotypically matching our index infant. He died at the age of 15 months with acute respiratory failure. Conclusion The accurate diagnosis of such rare diseases with genetic confirmation is vital for proper clinical decision-making, genetic counseling of the affected families, and future genotype-phenotype correlation studies.

scholarly journals Treatment of digital ulcers in systemic sclerosis: Case series study of thirteen patients and discussion on outcome

2017 ◽  
Vol 63 (5) ◽  
pp. 422-426 ◽  
Author(s):  
Yahia Abuowda ◽  
Raquel Sousa Almeida ◽  
Ana Alves Oliveira ◽  
Petra Pego ◽  
Cristina Santos ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Treatment Protocol ◽  
Treatment Strategies ◽  
Case Series ◽  
Tissue Loss ◽  
Repeated Treatment ◽  
Digital Ulcers ◽  
Case Series Study ◽  
Clinical Description ◽  
Soft Tissue Loss

Summary Introduction: In systemic sclerosis (SSc), digital ulcers (DU) are debilitating and recurrent. They are markers of prognosis and are associated with disability and mortality. Treatment strategies have been developed to block the proposed mechanisms of this complication. Objective: Clinical description of a population of SSc patients with DU, treatment, complications and outcome. Method: Analysis of 48 SSc patients meeting 2013 ACR-EULAR criteria, followed between 1999-2015; 13 patients had DU. Treatment protocol applied included cycles of 21 days of alprostadil, which can be repeated in the absence of DU healing. After DU healing, bosentan was initiated. Results: DU healing was achieved with intravenous prostanoid in 12 patients; seven patients required repeated treatment for DU healing. Twelve patients were later treated with bosentan; three of them experienced recurrence of DU, while one was anti-B2-GPI positive. Four patients had soft tissue loss and three other suffered digital amputation, these being late diagnosis. Conclusion: Younger patients and early referrals had better outcomes. Endothelin receptor antagonist toxicity should be monitored, particularly in patients previously exposed to hepatotoxic drugs.

Quantitation of sialylation status by lectin immunofluorescence in muscle biopsies of patients with GNE myopathy: assessing response to therapy

2017 ◽  
Vol 27 ◽  
pp. S150
Author(s):  
M. Huizing ◽  
P. Leoyklang ◽  
B. Class ◽  
C. Ciccone ◽  
A. Glowacki ◽  
...  
Keyword(s):  
Response To Therapy ◽  
Gne Myopathy ◽  
Muscle Biopsies
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