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

Ioana Teona Sebe

Ioana Teona Sebe

The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome

Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the five human RecQ helicases, RECQL3/BLM. The disorder manifests clinically as growth deficiency, skin anomalies, immunodeficiencies, insulin resistance, and a high predisposition to cancers. Less than 300 patients have been reported so far. In this paper, we report on the first Romanian patient of bi-ethnic origin, molecularly diagnosed with Bloom syndrome. As the most severe complications of the disorder are the malignancies, developing even in childhood, an early diagnosis is essential for further surveillance and therapeutic approach of Bloom patients.

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Comparison of Osteosynthesis Using Plates and Screws Versus Kirschner Wire Fixation for Unstable Metacarpal Fractures: a...

Hand surgery is considered to be the biggest challenge for every plastic surgeon. The social value of the hand is appreciated by any individual, butmostly by plastic surgeons which are, par excellence, hand-working persons. When a hand injury is treated you must consider the Hippocratic concept which states that "healing is a matter of time but it is sometimes also a matter of opportunity". The hand forms a functional unit with the forearm which is a high-precision machine, with multiples levers, who has tactile intelligence that ensure its auto-mechanism, being able to grab and maintain, in any spatial position, large and small tools invented by human genius. The hand is both a motor and sensory organ, and in terms of society,it is an organ of defense, an organ of creation and expression. This is why hand surgery is very important, both in medical and social terms, and any research in this domain has one purpose: improving the treatment of hand injuriesin order to obtain functional results closer to the genetic scale of the divine creation. The purpose of this study was to assess different osteosynthesis techniques in order to establish which one is better in matters of functional results. [...]

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Advances in Peripheral Nerve Regeneration: Materials, Methods, Techniques

Peripheral nerve injuries have a high incidence in limb trauma and have a devastating impact on the quality of life of the patient. Results after surgical treatment are unsatisfactory especially in cases with complete tran-section of the nerve (neurotmesis) associated with late repair. Thus, the necessity to implement into current practice new techniques, materials and methods for nerve repair. [...]

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Experimenting on LAB Rodents - Ethical Principles

People have reported themselves differently regarding different species of animals and had different reactions about the animal species. The attention paid to them depends on the role held by them in human life, either as pets or as a method of entertainment, either as research subjects.
Some species enjoy privileges as pets (dogs cats, birds, turtles), others are used to satisfy human native instincts as hunting animals.

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Botulinum Toxin Type A - Possible Anti-Nociceptive Effect on Mice

Botulinum neurotoxin has been used in the treatment of various groups of cronic neuromuscular diseases, which include neuromuscular junction signaling, non-neuromuscular transmission, cholinergic, or non-cholinergic.
Having specificity on releasing neurotransmitter vesicles with acetylcholine in the synaptic gap, the main usage of botulinum toxin was as a muscle relaxant drug in painful or painless spastic syndromes.

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Malignant Peripheral Nerve Sheath Tumor Relapse Detected by Positron Emission Tomography

Malignant peripheral nerve sheath tumors (MPNST) are soft tissue tumors showing neuroectodermal differentiation. They arise in connection to a major nerve trunk, a peripheral nerve or a preexisting neuroma in patients with hereditary neurofibromatosis type 1. [1, 2] They usually develop in the deep soft tissue between anatomic compartments, the root of the limbs (inguinal region, the axilla) being one of the most common sites of occurrence.

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The Rubens Flap - Breast Reconstruction - Anatomical Dissection on a Cadaver

The concealment of cutaneous and subcutaneous defects has always been a challenge in surgery. The breast is one of the most important and defining elements of feminine beauty. Neoplastic pathology has always made it difficult to aesthetically repair the extirpated mammary tissue. Plastic and aesthetic surgery and reconstructive microsurgery, through microsurgical techniques of autologous free flap transfers, try to solve these problems.

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The Inferior Gluteal Flap - Breast Reconstruction - Anatomic Dissection on a Cadaver

The breast has been the expression of beauty and fertility since ancient times. The aesthetic reconstruction of the breast is and has been a challenge for plastic surgeons. Microsurgical techniques of dissection and free transfer are commonly used. During the dissection of one fresh, female cadaver, age 67, a free inferior gluteal flap was taken from gluteal region, using loupe magnification. The dissection preparations were photographed with a high definition camera.

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