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.

Pheochromocytomas (Pheos) and paragangliomas (Pgls) are rare neuroendocrine tumors, with the same embriologic origin. Based on WHO classification, chromaffin tumors of the adrenal medulla are called Pheos, whereas tumors arising from extra-adrenal chromaffi n cells, along the autonomous nervous chains, are named Pgls [1]. Furthermore, there are two types of Pgls according to their homologous nervous chain: sympathetic and parasympathetic tumors. Sympathetic Pgls are developing from the pre- and paravertebral sympathetic ganglia (ex: Pgls of the thorax, mediastinum, abdomen) and from the connective tissue within the pelvic organs (ex:urinary bladder Pgl). They release dopamine or norepinephrine (NE) because they lack phenylethanolamine N-methyltransferase (PNMT), the enzyme in charge of transforming NE into epinephrine (E), that is specific to adrenal medulla. [...]

Impedance cardiography (ICG) is a noninvasive modality to assess hemodynamic parameters. It uses changes in impedance across the thorax. It can evaluate the thorax fluid capacity which includes extravascular, intravascular and chest water content and, indirectly, represents the degree of heart failure.
This technique allows the assessment of cardiac output (CO), cardiac index (CI), stroke volume (SV), stroke index (SI), systemic vascular resistance (SVR), systemic vascular resistance index (SVRI), left ventricular ejection fraction (LVEF), left ventricular ejection time (LVET). CO, CI, SV and SI can reflect the myocardial blood flow
SVR and SVRI can reflect systemic vascular resistance and cardiac afterload
PEP, LVEF, LVET and STR can reflect myocardial contraction (prolonged PEP, LVET shortening, increase of STR and decrease of LVEF represent the compromised cardiac function). (1, 2)