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Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in... more
Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic di...
A rare cause of infertility is the lack of fertilisation with the spontaneous activation of oocytes, leading to parthenogenesis. We present such a case. The patient was a G1P0 38-year-old woman of African ethnicity, who requested an in... more
A rare cause of infertility is the lack of fertilisation with the spontaneous activation of oocytes, leading to parthenogenesis. We present such a case. The patient was a G1P0 38-year-old woman of African ethnicity, who requested an in vitro fertilisation (IVF) with donor sperm. She received a stimulation protocol of 75 IU of FSH/LH from day 3 of the cycle, which she interrupted after 2 d, and restarted with the same dosage for another 3 d from day 7, plus one administration of GnRH antagonist in day 10 of the cycle. With a follicle reaching 19 mm on day 11, estradiol of 325 ng/ml, ovulation was induced with hMG 5000 UI, and oocyte pick-up performed at 30 h. One oocyte was retrieved, and good-quality sperms were added to the insemination procedure. No fecundation occurred at 20 h, with the extruded oocyte separated from the granulosa wall. At 40 h and 64 h the aspect was of three cells, one cell with one nucleus, the others with high granulation and no visible nuclei. This case shows an unusual self-activation oocyte in a poorly managed IVF cycle. The patient will be further evaluated, to decide if a better managed stimulation protocol would prevent recurrence.
Extraction and hydrolysis conditions for flavonoid chromogene from Hypericum Perforatum have been presented. Structural determinations have been made by chromatographic and spectrometric methods and by reduction to flavylium salts. For... more
Extraction and hydrolysis conditions for flavonoid chromogene from Hypericum Perforatum have been presented. Structural determinations have been made by chromatographic and spectrometric methods and by reduction to flavylium salts. For antioxidant property estimation DPPH test has been applied. Antioxidant properties of hydroxy - flavones can be used in therapy of diseases generated or increased by radical mechanism oxidation and accumulation