Read more about the article Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.
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Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.

Abstract Greig cephalopolysyndactyly syndrome (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including hypertelorism and macrocephaly. Although GLI3 shows…

Continue ReadingNovel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.
Read more about the article Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
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Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.

Abstract Deletions or intragenic mutations involving the MEF2C gene on chromosome 5q14.3 have generally been associated with a relatively uniform phenotype characterized by severe developmental delay, absent speech, stereotypies, absent…

Continue ReadingPartial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
Read more about the article Status epilepticus developing during lacosamide monotherapy.
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Status epilepticus developing during lacosamide monotherapy.

Abstract Two cases with partial onset epilepsy who developed status epilepticus (SE) on lacosamide (LCM) monotherapy are reported. LCM is an effective adjunctive antiepileptic drug (AED) for partial-onset epilepsy and…

Continue ReadingStatus epilepticus developing during lacosamide monotherapy.
Read more about the article Isochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor.
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Isochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor.

Abstract

Continue ReadingIsochromosome 17q10 associated with basophilia in primary myelofibrosis while with JAK2 inhibitor.
Read more about the article In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.
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In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.

Abstract The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central…

Continue ReadingIn silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.
Read more about the article Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum.
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Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum.

Abstract We report the clinical, biochemical, and molecular findings in a Cypriot family with minimally symptomatic McArdle disease. Myophosphorylase in muscle was assessed by histochemistry, quantitative spectrophotometry, and western blot…

Continue ReadingMinimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum.
Read more about the article Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature.
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Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature.

Abstract Familial neurohypophyseal diabetes insipidus (FNDI) is a disorder characterized by excess excretion of diluted urine (polyuria) and increased uptake of fluids (polydipsia). The disorder is caused by mutations affecting…

Continue ReadingIdentification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature.
Read more about the article A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.
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A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

Abstract Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%)…

Continue ReadingA unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.
Read more about the article Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
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Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Abstract Steinfeld syndrome (MIM #184705) was first reported in 1982. It is characterised by holoprosencephaly and limb defects, however other anomalies may also be present. Following the initial description, three…

Continue ReadingMicroform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
Read more about the article Clinical outcomes in children with herpes simplex encephalitis receiving steroid therapy.
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Clinical outcomes in children with herpes simplex encephalitis receiving steroid therapy.

Abstract Herpes simplex virus encephalitis (HSE) is a significant cause of morbidity and mortality. Neurologic sequelae are common even after early initiation of acyclovir treatment. The host immune response during…

Continue ReadingClinical outcomes in children with herpes simplex encephalitis receiving steroid therapy.