Anencephaly is a severe malformation of the central nervous system (CNS), being one of the most common types of neural tube defects. It is defined as total or partial absence of the calvarium , with absence of the brain. Anencephaly has an incidence of 1 to 5 in every 1000 births, and the mortality rate is 100% during intrauterine life or within hours or days after birth. The etiology of anencephaly remains unclear, but various maternal-related environmental and genetic risk factors have been reported, which include diabetes, obesity, exposure to different drugs or toxins, genetic polymorphisms and mutations, as well as positive family history for neural tube defects. One of the most important nutritional factors in the development of anencephaly is folate deficiency. Methylenetetrahydrofolate reductase ( MTHFR ) gene codes the enzyme involved in the intracellular metabolism of folic acid; the 677C-T polymorphism of this gene causes the thermolability of the enzyme and decreased enzymatic activity, which is also dependent of folate plasmatic level. Etiopathogenesis of anencephaly includes several mutations in various other genes, such as: platelet-derived growth factor receptor alpha ( PDGFRA ), cadherin epidermal growth factor (EGF) laminin G (LAG) seven-pass G-type receptor 1 ( CELSR1 ), Vang-like 1 ( VANGL1 ) and Vang-like 2 ( VANGL2 ), the last two being involved in the process of neurulation. Screening tests include maternal serum alpha-fetoprotein level and ultrasound (US) examination. During the first trimester US screening, anencephaly is now detected in all cases, but in order to decrease the complication rate of pregnancy termination, the diagnosis should be established as soon as possible, during the pregnancy confirmation US. We conclude that given that anencephaly is a severe malformation of the CNS, morphological characterization could improve the screening by US that is mandatory in the first trimester in order to plan the best, safe and early management.

Although imaging methods to investigate Ebstein's malformation have continuously evolved, standardization of assessment protocols by 3D echocardiographic imaging, speckle tracking imaging, and cardiac magnetic resonance imaging is required.

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Morphological variability of paranasal sinuses is well known for endoscopic surgeons and anatomists alike. The ethmoid sinus is the most complex and variable of all paranasal sinuses, due to the fact that its development is not yet well known and is influenced by many factors. Volumetric studies of the sinuses have been made using dried skulls, cadaver heads and imaging studies, but there are still not sufficient data in order to name a standard value for each sinus. Few data can be found especially regarding the ethmoid sinus. In this paper, we measured the volumes of ethmoid lateral masses, and for anterior and posterior groups of cells, using imaging studies and a volumetric feature of our imaging studies. Results showed an average volume between 7.34 cm3 and 8.39 cm3for the ethmoid lateral mass, between 4.33 cm3and 4.92 cm3 for the anterior ethmoid and between 3.01 cm3and 3.47 cm3for the posterior ethmoid groups. We also found that the average volume of the anterior ethmoid occupies between 58-59% of the whole volume, while the posterior ethmoid occupies only 41-42% of this volume.

Hemolytic-uremic syndrome is defined by a combination between renal failure, microangiopathic hemolytic anemia and thrombocytopenia; it usually appears in young children, is preceded by gastrointestinal enteritis and may involve other organs as well. The purpose of this article is to present a series of four cases of lethal hemolytic uremic syndrome and discuss its legal medicine consequences. For the first three cases an autopsy was not performed and the direct cause of death was considered brain involvement. In the fourth case an autopsy was performed and the direct cause of death was considered to be septic shock, secondary to diarrheal associated hemolytic uremic syndrome, caused by a enteropathogen E.Coli.