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

Ioana Cristina Grintescu

Ioana Cristina Grintescu

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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Iron and Erythropoiesis – Optimizing the Link

Purpose of review: The aim of this paper is to provide the clinician an overview about the link between iron homeostasis and erythropoiesis and how we can promote this relationship in order to improve surgical patients’ outcome. Key elements: Iron is essential for various cellular processes, like cell signalling, oxygen transport, erythrocyte and heme synthesis, mitochondrial respiration, host defence, nucleic acid replication. Erythropoietin and iron are the main erythropoiesis regulators. Under iron-restricted conditions, the erythrocytes production is impaired, leading to microcytic hypochromic anemia appearance. Iron-restricted condition enables patient capacity to recover from post-surgery anemia. Long-term consequences of chronic anemia affect patient’s quality of life. Therefore, parenteral iron supplementation, in patients with anemia secondary to blood loss, can lead to a fivefold increase in erythropoietic response, therefore enhancing recovery. Summary: Under normal circumstances, the link between iron and erythropoiesis is maintained especially through regulatory feedback mechanisms, with minimal external support. In face of important blood loss, with secondary acquired iron-restricted anemia, parenteral iron supplementation improves the bone marrow erythroid response and helps correcting haemoglobin levels.

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The Labyrinth Behind an Acute Respiratory Failure

Acute hypoxemic respiratory failure may have different causes. Case presentation: We present the case of a 42-year-old woman, with history of recent thyroidectomy and a late history of sleeve gastrectomy, who presented for acute dyspnoea. The chest X-ray revealed hydropneumothorax, and, therefore, an intercostals chest tube drainage was inserted. The evolution was unfavourable, with further respiratory status deterioration. A computed tomography of the thorax and abdomen was performed, that revealed a dilated thoracic oesophagus and stenosis of the esophagogastric junction, with lack of substance in the oesophageal wall and extravasation of oesophageal content in the posterior mediastinum, due to an oesophageal pleural fi stula. An oesophageal stent was inserted under endoscopic guidance and the patient underwent minim-invasive surgical interventions for evacuation of the mediastinal and pleural collections, with a favourable evolution. Conclusions: Acute respiratory failure can be the face of multiple conditions, some of these can be life threatening and in need for rapid detection and treatment.

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Posttraumatic Renal Artery Thrombosis

Posttraumatic renal artery thrombosis is a very rare complication of abdominal trauma which occurs especially in young people, after car accidents, with an increasing incidence in the last few years. There are about 400 reported cases in the literature[1], meaning less than 0.08% of all reported abdominal traumas and being found in 1-4% of patients with renal damage[2]. [...]

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How Complicated a Complicated Case Can Become?

The incidence of work related injuries is high worldwide. More than 300 million accidents happen during work and are responsible for almost 2 millions of deaths. The incidence of crush syndrome is 2-15% in all trauma patients and frequently can determine trauma-related amputations, especially if the lower limb is involved and the main mechanism is crushing. Crush syndrome is the systemic manifestation of rhabdomyolysis due to muscles reperfusion injury that happened when the compressive forces on the tissues are released, being of-ten related with occupational accidents[1]. [...]

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Single-Stage Reconstruction of Distal Third of the Dorsum Nasi Using a Nasolabial Flap after Removal of Basal Cell Carcinoma

The nose represents a common site for skin cancer, especially for Basal Cell Carcinoma (BCC) which is the most common malignant tumor in humans[1-3]. The removal of the tumor will lead to a defect that can involve skin, cartilage and even nasal mucosa. Therefore, reconstruction of this tridimensional structure can be a challenge even for the most experienced surgeons[4]. There are many techniques described in the literature for restoring the lining and skeletal framework[1-8], but all of these techniques should be adapted to the patient’s needs. In this paper we described our preferred surgical method to cover a medium defect of the distal third of the dorsum nasi after tumor excision using a nasolabial flap. In order to perform a single-stage reconstruction, we pushed the limits of the flap measurements and did some tricks so as the pedicle to be well fitted, leading to good aesthetic results. [...]

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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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