conclusions in cases of unusual vascular lesions, metabolic diseases must be considered. in homocystinuria, early diagnosis and treatment are important. blood homocysteine levels can be returned to normal, and some complications can be prevented. introduction homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. homocystinuria can influenc...

thrombin is a multifunctional enzyme which has key roles in coagulation cascade and inflammatory events. the pro-inflammatory functions of thrombin occur by different mechanisms including increasing mast cell degranulation, up-regulating the expression of cell adhesion molecules (cams) and promoting the secretion of inflammatory chemokines and cytokines. dysregulated signaling functions of thro...

A Japanese Black calf, 3 day-old male, showed severe ataxia, lateral recumbency, and opisthotonos at the birth. Histopathological examinations revealed severe status spongiosis throughout the central nervous system. Numerous vacuoles within the neuropile varying in size and shape were observed in both formalin-fixed paraffin and cryostat sections. In the lesions, a limited number of spheroids a...

The term "mitochondrial diseases" (MD) refers to a group of disorders related to respiratory chain dysfunction. Clinical features are usually extremely heterogeneous because MD may involve several tissues with different degrees of severity. Muscle and brain are mostly affected, probably because of their high dependence on oxidative metabolism. Muscle can be the only affected tissue or involved ...

how to cite this article: karimzadeh p. pelizaeus-merzbacher- disease (pmd) and pelizaeus-merzbacher-like disease (pmld). iran j child neurol autumn 2014;8:4 (suppl.1):9-10.   pls see pdf.

castleman’s disease (angiofollicular lymphoid hyperplasia) includes a heterogeneous group of lymphoproliferative disorders. the cause of this disease remains uncertain. there are two types of localized castleman’s disease: the more common hyaline vascular and the plasma cell types. mixed variant is an uncommon localized lesion in general population. the lesions can occur in any part of the body...

pelizaeus­-merzbacher-like disease (pmld) is a hypomyelinating leukoencephalopathy disorder with a genetically heterogeneous pattern. mutations in the gja12/gjc2 gene cause one form of autosomal recessive pelizaeus­-merzbacher-like disease. here, we report a new mutation in a ­10-month-old girl with nystagmus, psychomotor delay, hypotonicity, head nodding and dysmyelination from healthy second ...

cardiovascular disease (cad) screening in asymptomatic patients with diabetes mellitus is controversial. an exercise stress test is a safe and effective initial testing for ischemic heart disease (ihd) screening. treadmill stress test is not the best screening method for a particular patient who is not able to exercise, abnormal electrocardiogram (ecg) or positive exercise treadmill test (ett) ...

The mitochondrial encephalomyopathies are a heterogeneous group of disorders characterized by mitochondrial dysfunction that produce multisystem symptoms. This disorder affects both the central and peripheral nervous systems, skeletal muscles, heart, endocrine glands, gastrointestinal tract, hematopoietic system, and kidneys (Table 1) [1]. Patients with mitochondrial encephalomyopathy can be di...