Abstract The aim of the present study was to investigate the spontaneous development of growth and weight gain of patients with Prader-Willi syndrome (PWS) in Mainland China. We retrospectively analyzed 120 cases of PWS diagnosed from 1994 to 2014 in Mainland China. Scatter diagram of the growth data was compared to standardized growth curve. The length at birth was similar to the normal population and the mean birthweight is under the 50th centile of normal population. Heights in 43% (27/62) of patients had dropped off below the 3rd centile of their peers after 5 years of age. Weights in 65.9% (58/88) of patients had exceeded the 97th centile of their peers after 3 years of age. Early obesity is obvious in 92.9% (66/71) of patients with body mass index (BMI) up the 97th centile of their peers from 2–3 years of age. Final mean height is 149.3 ± 11.2 cm for females (n = 7) and 146.2 ± 9.8 cm for males (n = 6), showing 11.3 cm and 26.6 cm below the average height for normal Chinese girls and boys. The growth pattern of PWS in Mainland China is comparable to those in Caucasians. Early intervention with recombinant human growth hormone is warranted considering the early onset of growth retardation and obesity.
Abstract The present study was designed to explore if maternal subtotal (5/6) nephrectomy affects the development of fetal rat kidneys using morphometric methods and examining whether there are any apoptotic changes in the fetal kidney. To generate 5/6 nephrectomized model rats, animals underwent 2/3 left nephrectomy on gestation day (GD) 5 and total right nephrectomy on GD 12. The fetal kidneys were examined on GDs 16 and 22. A significant decrease in fetal body weight resulting from maternal 5/6 nephrectomy was observed on GD 16, and a significant decrease in fetal renal weight and fetal body weight caused by maternal nephrectomy was observed on GD 22. Maternal 5/6 nephrectomy induced a significant increase in glomerular number, proximal tubular length, and total proximal tubular volume of fetuses on GD 22. Maternal 5/6 nephrectomy resulted in an increase in the number of apoptotic cells in the metanephric mesenchyme of the kidney on GD 16, and in the collecting tubules on GD 22. These findings suggest that maternal 5/6 nephrectomy stimulates the development of the fetal kidney while suppressing fetal growth.
Abstract Severe micrognathia can lead to death shortly after birth without a proper resuscitation. However, it is difficult to develop an effective resuscitation strategy without a prenatal diagnosis of the severity of micrognathia. In the present case, we used fetal three-dimensional computed tomography (3D-CT) to assess the severity of micrognathia. Its images clearly demonstrated bony framework of mandible and suggested that mandibular hypoplasia was too severe to allow for oral intubation. We therefore decided that the ex utero intrapartum treatment (EXIT) procedure would be more appropriate to establish the airway at birth. The prenatal 3D-CT is useful to evaluate the mandibular anatomy in utero if the severity of the micrognathia is not confirmed by the ultrasound or magnetic resonance imaging (MRI).
Abstract Congenital adrenal hyperplasia (CAH) is an inherited medical condition that implies defects in steroid biosynthesis. The dental findings of a female patient with CAH are reported. The patient suffered from severe periodontal tissue destruction, obvious enamel defects, as well as some occlusal problems. The management approach is presented and the possibility of interrelation of her dental findings with her medical condition is discussed.