Prenatal ultrasonographic findings in Klippel-Trenaunay syndrome: A case report.

BACKGROUND: Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder. A detailed prenatal ultrasound examination plays an important role in the diagnosis of KTS and the subsequent counseling and follow-up of the patient. CASE SUMMARY: A 25-year-old woman attended our department for a regular examination. The whole of the right lower extremity and right buttock were observed to be markedly thicker compared to the left one at 18 wk of gestation. However, the lengths of the right femur, tibia and fibula were in the normal range. No marked edema and fluid/cystic spaces were detected in the lower limbs. There were no other organ abnormalities. The vasculature in the right limb was visibly dilated, with much higher intensive blood flow signals. No congenital embryonic veins were visible in both limbs. The right lower limb exhibited much more hypertrophy compared to the left limb two weeks later. Amniocentesis and genetic tests showed normal results with 46 XX. Despite the normal karyotype, the family opted to terminate the pregnancy. The post-mortem examination confirmed asymmetric hypertrophy of the right limb in the fetus and revealed a large area of marked dark-purple superficial capillary malformations occupying the skin of the right lower extremity. The enlargement of veins and soft tissue hypertrophy were also seen on postnatal X-ray and Magnetic Resonance Imaging. Autopsy revealed severe congestion in the right lower limb. A final diagnosis of KTS was made. CONCLUSION: KTS may be diagnosed prenatally based on the typical features observed during ultrasound examination.

[Ultrasound Measurement of Uterus and Ovary from Childhood to Adolescence and Ultrasound in Diagnosis of Precocious Puberty].

OBJECTIVE: To analyze the diagnostic value of ultrasound combined with Z-score in various types of precocious puberty of girls. METHODS: Ultrasound was used to measure the uterus and ovary of normal girls aged between 3 and 21, and Z-score model was established. Ultrasound was used to measure the uterus and ovary of girls with central precocious puberty (CPP), peripheral precocious puberty (PPP), premature pubarche (PP), and premature thelarche (PT). The highest age-related variable was selected to calculate the Z value of the above measurements. The best diagnostic cut-off point was obtained by ROC curve. RESULTS: Ovarian volume and uterine body length had the best correlation with age. The ovarian volume and uterine body length of the girls with CPP were longer and larger than those in normal girls. The area under curve (AUC) of ovarian volume was 0.94 and the best diagnostic cut-off value was Z=2.16 (sensitivity 100%, specificity 81.1%). The AUC of uterine body length was 0.845 and the best diagnostic cut-off value was Z=1.14 (sensitivity 91.6%, specificity 84.9%). In the girls with PPP, only the length of uterine body was longer than that of normal girls. The AUC was 0.910 and the best diagnostic cut-off value was Z=1.06 (sensitivity 98.0%, specificity 82.0%). There was no significant difference between the girls with PP, PT and normal girls. CONCLUSIONS: Ultrasound combined with Z value has certain significance in differentiating CPP from PPP. It is speculated that this method can be used in the treatment and monitoring of precocious puberty.

HSP70 overexpression may play a protective role in the mouse embryos stimulated by CUMS.

BACKGROUND: We evaluated whether heat shock protein HSP70 plays a protective role in the embryos of Kunming mice subjected to chronic unpredictable mild stress. METHODS: Female mice were stimulated for 4 weeks with nine stressors and then divided into mild, moderate and severe stress groups. Superovulation was induced with a gonadotropin preparation (PMSG/HCG) and HSP70 expression in 2-cell embryos and day 4 embryos was detected by immunofluorescence (IF) and real-time polymerase chain reaction (RT-PCR). RESULTS: In the mild stress group, ovarian response and oocyte development potential were similar to those of the control group, while the HSP70 mRNA levels of the embryos were significantly higher (P < 0.05). In the severe stress group, ovarian response and oocyte development potential decreased compared with the control group (P < 0.05), while the HSP70 mRNA levels were similar. The results of the moderate stress group were intermediate among the three groups. Furthermore, HSP70 mRNA levels of the embryos were shown to be positively associated with parameters of oocyte and embryo development potential (P < 0.05). CONCLUSIONS: HSP70 overexpression may play a protective role in the embryos of the mild or moderate stress mice stimulated by chronic unpredictable mild stress.