Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, incurable, and fatal neurodegenerative disorder. The objective of this study was to describe the clinical features and survival time of Chinese sCJD patients, and to explore the associations between clinical data and survival. In this study, we analysed the clinical data of 21 sCJD patients in a tertiary care hospital and used all Chinese case material available from 152 patients with sCJD in literatures between 2008 and 2018. The mean age of onset of all 173 deceased patients was 61.44 year-olds (y), with the highest incidence in the population of 60 to 69 y. The most common manifestation at disease onset was progressive dementia. With the progression of the disease, the four main clinical symptoms and signs were developed, including myoclonus, visual or cerebella disturbance, pyramidal or extrapyramidal dysfunction, and akinetic mutism. Extrapyramidal symptoms were more frequently observed. The mean survival time was 7.34 months, and 82.10% of cases died within 1 year after disease onset. The follow-up showed that the survival time was longer and the myoclonus sign was more frequently presented in younger-onset sCJD patients. Patients with abnormalities only in cortical regions had a higher frequency of pyramidal dysfunction than patients having lesions in both cortex and basal ganglia. The findings of this study might provide some insight into the clinical characteristics of sCJD patients in China, but further studies could examine the presences of clinical features and survival time in patients with early age of onset in a prospective manner.

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Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses. Karyotype analysis of amniocytes showed a high level (42%–50%) of mosaicism, and chromosomal microarray analysis (CMA) of uncultured amniocytes showed no copy number variation (CNV) except for large fragment loss of heterozygosity. Ultrasound findings were unmarkable except for small for gestational age. In Case 1, further umbilical blood puncture confirmed 22.4% and 34% trisomy 9 mosaicism by CMA and fluorescent in situ hybridization (FISH) respectively. After comprehensive consideration of the genetic and ultrasound results, the two gravidas decided to receive elective termination and molecular investigations of multiple tissue samples from the aborted fetus and the placenta. The results confirmed the presence of true fetoplacental mosaicism with levels of trisomy 9 mosaicism from 76% to normal in various tissues. These two cases highlight the necessity of genetic counseling for gravidas whose NIPT results highly suggest the risk of chromosome 9 to ascertain the occurrence of mosaicism. In addition, the comprehensive use of multiple genetic techniques and biological samples is recommended for prenatal diagnosis to avoid false-negative results. It should also be noted that ultrasound results of organs with true trisomy 9 mosaicism can be free of structural abnormalities during pregnancy.

Objective There is some evidence that birth defects are related to maternal age, gender, and residence, but in-depth studies need to be included. To define the relationships between gender, residence, maternal age, and a broad range of birth defects, we examined surveillance data from the Birth Defects Surveillance System in Hunan Province.Methods Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2010–2020. Incidences of birth defects (number of cases per 10000 fetuses (births and deaths at 28 weeks of gestation and beyond)) with 95% confidence intervals (CI) were calculated by residence, gender, maternal age, year, and 23 specific defects. Crude odds ratios (ORs) were calculated to examine the association of each maternal characteristic with birth defects.Results Our study included 1619376 fetuses, and 30596 fetuses had at least one birth defect diagnosis. The incidence of birth defects was 188.94/10000 (95%CI: 186.82-191.05). Birth defects were more frequent in males than females (210.46 vs. 163.03/10000, OR = 1.30, 95%CI: 1.27–1.33), in urban areas than rural areas (223.61 vs. 162.90/10000, OR = 1.38, 95%CI: 1.35–1.41), and in mothers ≥ 35 years old compared to mothers 25–29 years old (206.35 vs. 187.79/10000, OR = 1.10, 95%CI: 1.06–1.14). Cleft palates were more frequent in males, and nine specific defects were more frequent in females. Five specific defects were more frequent in rural areas, and eight were more frequent in urban areas. Compared to mothers 25–29 years old, five specific defects were more frequent in mothers < 20 years old, seven specific defects had higher incidences in mothers 20–24 years old, two specific defects had higher incidences in mothers 30–34 years old, and ten specific defects had higher incidences in mothers ≥ 35 years old.Conclusion Our data indicate that gender, residence, and maternal age differences in the incidences of birth defects and most specific defects are common. Several mechanisms have been proposed to explain these differences. Our study is of great significance for researchers attempting to identify novel risk factors for birth defects.

Rationale: Hydronephrosis, mostly caused by ureteropelvic junction obstruction, rarely occurs in infants. However, imperforate hymen atresia in female infants may cause hydronephrosis, even though it is rare. Patient concerns: A 3-month-old female infant was admitted to our hospital for frequent crying. There was no significant past medical history. Diagnoses: Following ultrasound imaging, the patient was diagnosed with hydronephrosis possibly caused by imperforate hymen. Interventions: The infant underwent hymenotomy with a cruciate incision to prevent future complications such as acute renal injury. Outcomes: Hydronephrosis resolved after the operation. The outcome was very good, with no complications in the postoperative period. Conclusions: Early ultrasound diagnosis plays a significant role in the management and treatment of infant patients. Ultrasound is the mandatory imaging technology for determining the cause of hydronephrosis.