Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion

2008 ◽  
Vol 146A (7) ◽  
pp. 893-898 ◽  
Author(s):  
Laila Zahed ◽  
Carolina Sismani ◽  
M. Ioannides ◽  
Monzer Saleh ◽  
G. Koumbaris ◽  
...  
Keyword(s):  
Subtelomeric Deletion ◽  
Clinical Description

Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion

2007 ◽  
Vol 50 (1) ◽  
pp. 73-78 ◽  
Author(s):  
Sofia Kitsiou-Tzeli ◽  
Carolina Sismani ◽  
Marios Ioannides ◽  
Stavros Bashiardes ◽  
Andria Ketoni ◽  
...  
Keyword(s):  
Array Cgh ◽  
De Novo ◽  
Subtelomeric Deletion ◽  
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

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.

Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding

2009 ◽  
Vol 29 (11) ◽  
pp. 1058-1060 ◽  
Author(s):  
Ni-Chung Lee ◽  
Shun-Ping Chang ◽  
Cheng-Shyong Chang ◽  
Chia-Hsiang Chen ◽  
Dong-Jay Lee ◽  
...  
Keyword(s):  
Inverted Duplication ◽  
Multicolor Banding ◽  
Subtelomeric Deletion ◽  
Chromosome 18Q
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