The Journal of Bucharest College of Physicians and the Romanian Academy of Medical Sciences

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Wednesday, June 20 2018 @ 06:28 EEST

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Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy

2015-01

Axinia Corches

Type I Werdnig-Hoffman spinal muscular atrophy (SMA) is a progressive neuromuscular disease with recessive autosomal transmission characterized by muscular weakness and atrophy caused by degeneration of motor neurons in the spinal cord and in the brainstem nuclei.

In the early 1980s, Werdnig and Hoffman described a disorder with childhood onset that was characterized by progressive muscle weakness. In terms of histopathology, it showed loss of neurons in the previous horns of the spinal cord. (Katirji B, 2002).

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Surgical Attitude Towards the Hepatic Hydatid Pericystic Cavity

2015-01

I. Brezean, M. Vilcu, I. Pantea, E. Catrina, D. Ferechide

There are a variety of anatomoclinical forms of hepatic echinococcosis. This has led to finding and applying a number of surgical procedures which have the same aim, namely the reduction or elimination of the pericystic cavity. Besides, solving the residual pericystic cavity after the elimination of the parasite represents the main problem of the surgical treatment. The postoperative complications of the hydatid cyst are caused by the failure to adapt the surgical procedures to the morphological characteristics of the pericystic cavity.

In the Romanian medical literature, the surgeries performed for the hepatic hydatid cyst are divided into the so-called conservative surgeries, which abandon the pericystic cavity or resect a part of the pericyst, and the so-called radical surgeries, which completely remove the pericystic cavity by sacrificing a smaller or greater area of the parenchyma of the liver.

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Biomarkers and Imagistic Methods for Early Diagnosis and Prognostic of Laryngeal Cancer

2015-01

Cristina Maria Goanta, Daniela Cirpaciu

For years, intermediate and advanced staged tumors were approached with total laryngectomy and post-operative RT until 1991, when the Veterans Administration Larynx Study and other subsequent organ preservation trials established the role of chemo radiation in the upfront treatment of intermediate laryngeal cancers (stage III and early IV a).

Surgical management of the larynx and hypo-pharyngeal malignancies have become increasingly challenging as surgical organ preservation strategies are applied. Failures of these protocols are often accompanied by post radiation sequels, which enhance post-surgical complications when a salvaging laryngectomy/laryngopharyngectomy is undertaken.

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SIRS and MODS in Acute Pancreatitis

2015-01

C.C. Popa, Octavia Cristina Rusu, Alexandra Kocsis, S.I. Neagu, C.R. Strugaru

Acute pancreatitis is the acute inflammation of the glandular pancreatic acinar cells, the consequence of parenchymal enzyme activation. Acinar local autodigestion which determines tissue destruction and ischemic necrosis sets in. Simultaneously, the local inflammatory reaction is followed by the release of pancreatic enzymes in the systemic circulation. In this situation, inflammatory cells appear, which stimulates the production of inflammatory mediators (1,2).

The loss of local control or exaggerated inflammatory reaction triggers the systemic inflammatory response syndrome (SIRS). The factors involved in determining the systemic response may be infectious (bacteria, viruses, fungi, parasites etc.), noninfectious (trauma, pancreatitis, burns etc.), or a combination of all the above (Fig. 1).

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Ultrastructural Arguments for the Extracellular Location of Amyloid Deposits

2015-01

E. Mandache, M. N. Penescu

Amyloidosis is a disease characterized by deposition and accumulation of insoluble proteins as small or large deposits of a fibrillar material. Despite the fact that these deposits are ultrastructurally identical, the basic proteins are chemically different, so far being recognized over 25 amyloidogenic precursors [1]. All these proteins can be immuno-histochemically identified, thus leading to a more and more precise diagnosis and an appropriate treatment.

Amyloid fibrils have an 8 to 12 nm diameter, are extremely strong, highly ordered and organized and can be formed, as already mentioned, by a large number of proteins and peptides [2]. They are rigid, nonbranching, hollow-cored tubules randomly arranged. Examined in X-ray diffraction they have a characteristic β-pleated sheet configuration. This macromolecular helix of 100 nm periodicity, formed by two twisted β-pleated sheet micelles is responsible for the resistance of amyloid to solubilization or proteolytic digestion. The amyloid precursor peptides may be normal serum proteins, or abnormal degradation variants, which can be repetitively incorporated into a developing amyloid fibril. The P component of amyloid fibril is a pentagonal, 8 nm diameters, doughnut like glyco-protein, similar to complement component C1t and C-reactive protein. P component is probably the cause of amyloid deposit staining with iodine. All amyloids contain a proteoglycans matrix. Pure amyloid contains amyloid fibrils, P component and proteoglycans matrix. In tissue, the deposits are contaminated with varying amounts of plasma proteins and collagen. Variations in staining and density of amyloid result from different amounts of non-amyloid components attached to the fibrilar scaffold.

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