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2.
Blood Coagul Fibrinolysis ; 34(3): 221-223, 2023 Apr 01.
Article in English | MEDLINE | ID: mdl-36728696

ABSTRACT

Streptococcal toxic shock syndrome is a severe complication of group A streptococci. The production of antiphospholipid antibodies has been associated with streptococcal infections and with autoimmune diseases. Furthermore, streptococcal infections could be a trigger of Behcet's disease. We report a case of a boy who presented antiphospholipid syndrome after streptococcal toxic shock syndrome later he was diagnosed with Behcet's disease.


Subject(s)
Antiphospholipid Syndrome , Behcet Syndrome , Shock, Septic , Streptococcal Infections , Male , Humans , Behcet Syndrome/complications , Behcet Syndrome/diagnosis , Antiphospholipid Syndrome/complications , Antiphospholipid Syndrome/diagnosis , Shock, Septic/diagnosis , Shock, Septic/etiology , Streptococcal Infections/complications , Streptococcal Infections/diagnosis , Antibodies, Antiphospholipid
3.
Blood Coagul Fibrinolysis ; 34(3): 206-210, 2023 Apr 01.
Article in English | MEDLINE | ID: mdl-36730712

ABSTRACT

Agenesis of vena cava inferior (AVCI) is a rare congenital malformation with a prevalence of 0.0005-1% in the general population. High level of suspicion is required in young patients with deep vein thrombosis (DVT), particularly bilateral. We present an 8-year-old girl with AVCI presenting as bilateral lower extremity DVT and a review of the literature in pediatric cases with AVCI and DVT.


Subject(s)
Vascular Malformations , Venous Thrombosis , Female , Humans , Child , Vena Cava, Inferior/diagnostic imaging , Vena Cava, Inferior/abnormalities , Venous Thrombosis/complications , Venous Thrombosis/diagnosis , Vascular Malformations/complications , Vascular Malformations/diagnosis , Prevalence
4.
J Med Virol ; 94(2): 795-798, 2022 02.
Article in English | MEDLINE | ID: mdl-34676889

ABSTRACT

In the last 10 years, an increased number of patients presenting with acute encephalitis is being observed, a finding that is attributed to autoimmune mechanisms. Despite the fact that autoantibodies usually target the neuronal cell surface or synaptic proteins in the central nervous system (CNS), in many cases these remain undetectable, constituting a future diagnostic and therapeutic challenge. Human herpesvirus-7 (HHV-7) is proven to be a neurotropic virus, causing various neurological complications mostly in the adult population. We present the case of a 10-year-old girl, with confirmed active HHV-7 infection of the CNS, who developed acute seronegative autoimmune encephalitis. To our best knowledge, there is no literature concerning pediatric cases of autoimmune encephalitis following HHV-7 infection.


Subject(s)
Antibodies, Viral/blood , Autoimmune Diseases of the Nervous System/cerebrospinal fluid , Brain/pathology , Encephalitis/cerebrospinal fluid , Herpesvirus 7, Human , Roseolovirus Infections/cerebrospinal fluid , Autoantibodies/cerebrospinal fluid , Child , Female , Humans , Magnetic Resonance Imaging , Recurrence
5.
Blood Cells Mol Dis ; 42(3): 262-4, 2009.
Article in English | MEDLINE | ID: mdl-19261493

ABSTRACT

Barth Syndrome (BTHS) is a rare X-linked recessive inborn error of metabolism, which is characterized by dilated cardiomyopathy, neutropenia, skeletal myopathy and short stature. Barth Syndrome is associated with mutations in the tafazzin (TAZ) gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. Here we report a 5.5-month old boy with BTHS phenotype who carries a novel missense T43P mutation in exon 2 of the TAZ gene.


Subject(s)
Cardiomyopathies/genetics , Genetic Diseases, X-Linked/genetics , Mutation, Missense , Neutropenia/genetics , Point Mutation , Transcription Factors/genetics , Acyltransferases , Adult , Amino Acid Substitution , Chromosomes, Human, X/genetics , Exons/genetics , Female , Genotype , Greece , Growth Disorders/genetics , Humans , Infant , Male , Pedigree , Phenotype , Syndrome , Transcription Factors/deficiency
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