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

Ioana Oprea

Ioana Oprea

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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Urological Malpractice

Nowadays, doctors face a challenging medico-legal environment. This is also the case of urologists with many legal claims against them. The fact that urology is a surgical specialty is not encouraging, surgical specialties being situated on top of the chain. One of the most important problems is the lack of information from the specialized editorials. This kind of data is hard to find especially since it is often regarded as confidential information. [...]

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Penile Neoplasia Forensic Approach

As in cervix carcinoma the role of HPV has been proved, infact there is a rare type of PC which is directly linked to HPV[3]. As such, the prevalence of penile neoplasia is related to that of HPV in general population. Strains 16 and 18 are the most common findings in penile carcinoma[4]. [...]

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An Unfortunately Surprise of a Renal Cystic Mass - Case Presentation

Cystic renal masses represents a pathology that may rise diagnosis and management difficulties. The differential diagnosis of large renal cystic masses should be made with normal renal cysts, hydronephrosis, renal abscess, renal hematoma, morpho-functional demaged kidney or with a renal tumor with necrosis and abscess. [...]

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Advanced Genital Prolapse - Mesh Surgical Treatment

Genital prolapse is a frequent pathology in women associated with different urological and gynecological complications affecting women `s normal life [1]. It is defined as pelvic organ slipped from their anatomical position through vagina. The pelvic structures which might slip are uterus, bladder, rectum, small intestine or vaginal vault. Each one of these benefits of a specific surgical procedure [1].

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