background: uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. a high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. case: we describe here a case of uterine arteriovenous malformation. a 32-y...

sulfur mustard (sm) has been used as a chemical warfare agent, in the world war i and more recently during iraq-iran war in early 1980s’. its biological poisoning effect could be local or systemic and its effect depends on environmental conditions, exposed organs, and the extent and duration of exposure. it is considered as a strong alkylating agent with known mutagenic, carcinogenic effects; a...

Congenital lobar emphysema (CLE) is a rare developmental malformation that presents as neonatal respiratory distress and can be successfully managed with prompt intervention. Hyperinflation of the affected lobe mediastinal shift characteristic radiological finding. However, etiology mostly remains unknown. Here, we report case CLE microscopically revealed bronchial cartilaginous hypoplasia an u...

Callosal dysgenesis implies a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. A retrospective review of 15 cases of callosal dysgenesis revealed three distinct categories: agenesis (three subjects), hypogenesis (nine subjects), and hypoplasia (three subjects). The basis of this distinction rests upon considerations of neural tube closure, formation an...

Periventricular heterotopia (PVH) is a congenital malformation of human cerebral cortex frequently associated with Filamin-A (FLN-A) mutations but the pathogenetic mechanisms remain unclear. Here, we show that the MEKK4 (MAP3K4) pathway is involved in Fln-A regulation and PVH formation. MEKK4(-/-) mice developed PVH associated with breaches in the neuroependymal lining which were largely compri...

Congenital pseudarthrosis of the clavicle (CPC) is a rare malformation of uncertain aetiopathogenesis, usually unilateral. Physical examination reveals swelling over the midportion of the clavicle, often asymptomatic; the diagnosis is confirmed by radiology. Treatment is controversial: for many authors the surgical indications are the presence of symptoms, functional impairment or cosmetic defo...

Miller-Dieker lissencephaly syndrome (MDS) is a human developmental brain malformation caused by neuronal migration defects resulting in abnormal layering of the cerebral cortex. LIS1, the gene defective in MDS, encodes a subunit of brain platelet-activating factor (PAF) acetylhydrolase which inactivates PAF, a neuroregulatory molecule. We have isolated murine cDNAs homologous to human LIS1 and...

Urethral duplication is a rare congenital anomaly that is usually seen in males and, in rare cases, in females. Several different anatomical variations have been described. Sagittal localisation is the most common type of urethral duplication that usually develops as an isolated malformation. Coronal duplications, on the other hand, are rarer and are found in association with bladder duplicatio...

Loss of function of cerebral cavernous malformation 3 (CCM3) results in an autosomal dominant cerebrovascular disorder. Here, we uncover a developmental role for CCM3 in regulating neuronal migration in the neocortex. Using cell type-specific gene inactivation in mice, we show that CCM3 has both cell autonomous and cell non-autonomous functions in neural progenitors and is specifically required...

AIMS To study the immunohistochemical expression of carcinoembryonic antigen (CEA) in ductal hyperplasia of the breast and to investigate its putative relation with atypia and co-existing infiltrating ductal carcinoma. METHODS Paraffin wax embedded tissue from 37 cases of isolated ductal hyperplasia (five with atypia and 32 without atypia) and 25 cases of ductal hyperplasia associated infiltr...