Medicine
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Case Reports
Pediatric ovarian tumors, a challenge for pediatrician and gynecologist: Three case reports (CARE compliant).
Ovarian or adnexal tumors are very rare in patients below the age of 18 years, most of them being functional cysts, only 10% being malignant. We report 3 cases of ovarian tumors with the aim of revealing the particularities regarding the diagnosis and management of benign and malignant ovarian tumors in pediatric patients. ⋯ Laparoscopy may represent the first choice for uncomplicated ovarian masses. The diagnosis and the therapeutic plan must be based on symptoms, pelvic ultrasound, the time of menarche and the potential serum markers.
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Absence of the penis, known as aphallia, is a very rare congenital anomaly. It is believed to be a result of either the absence of the genital tubercle or its failure to fully develop and is associated with the level of hormones and chromosomal rearrangements. The failure of the genital tubercle influences the development of the penis and partly depends upon testosterone secreted by Leydig cells of the testis. Chromosomal polymorphisms may affect the functions of protection and regulation, potentially leading to susceptibility to congenital diseases. Herein, an extremely rare case of a congenital absence of the penis is described. ⋯ In consideration of the rarity and devastating psychosocial consequences of this case, we accordingly call for active cooperation with doctors to minimize the negative impact of this malformation. Early assignment of gender avoids confusion and contradiction. Parental confidence solidifies the child's own confidence in his or her gender.
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Case Reports
Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports.
Monosomy 18p deletion syndrome refers to a rare chromosomal disorder resulting from the part deletion of the short arm of chromosome 18. Prenatal diagnosis of de novo 18p deletion syndrome is a challenge due to its low incidence and untypical prenatal clinical presentation. ⋯ The fetal phenotype of monosomy 18p deletion syndrome shows great variability and may not be evident during the pregnancy. CMA may be served as an effective tool for the diagnosis of prenatal monosomy 18p deletion syndrome diagnosis.
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Pseudoaneurysm, the most common complication of femoral artery catheterization, involves the formation of a space between the lumen and the surrounding fibrous tissue through the damaged arterial wall. In patients treated with antiplatelet and anticoagulant agents, the incidence of vascular complications increases with the increasing use of minimally invasive procedures. ⋯ Pseudoaneurysm is an important complication of femoral artery puncture. The use of a hemostatic device was not superior to manual compression, and the incidence of this complication was significantly higher in patients who received anticoagulant or antiplatelet agents. A pseudoaneurysm may cause a bad prognosis. Therefore, the early detection of pseudoaneurysm and immediate treatment after femoral arterial puncture are needed.
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Obstructive sleep apnoea (OSA) is a prevalent sleep disorder considered as an independent risk factor for cardiovascular consequences. It has a strong genetic background and is associated with hypoadiponectinaemia. Target sequencing of whole ADIPONQ gene was performed in 340 participants including 247 patients with OSA and 93 non-OSA participants. ⋯ Moreover, the stratified analysis found that the genotype of rs3774262 (GA/AA), rs4686803 (CT/TT), and rs1063537 (CT/TT) variants were associated with increased risk of OSA by 2.935-, 2.935- and 2.786-fold in overweight participants. The genotype of rs2082940 CC variants was associated with decreased risk of OSA (OR: 0.373) in overweight participants compared with rs2082940 CT/ TT genotypes. ADIPOQ variants rs3774262, rs4686803, rs1063537, and rs2082940 were associated with the prevalence of OSA in Chinese Han individuals.