Thyroid diseases in fetuses and newborns are rare but can be severe in some cases. Early diagnosis and treatment are the keys to improve the prognosis. This review focuses on the diagnosis and treatment strategies of this disease during the fetal and neonatal periods. For fetuses with goiter, the main clinical issue is to differentiate hyperthyroidism or hypothyroidism and offer appropriate management on this basis. Management of maternal, fetal, and neonatal thyroid diseases requires an experienced multidisciplinary team including adult and pediatric endocrinologists, obstetricians, and sonographers.

Objective To analyze and summarize clinical manifestations of inflammatory bowel disease (IBD) in neonates.Methods From 2007 to 2013,three neonates were diagnosed with IBD in Peking University First Hospital.Data on these three cases with neonatal IBD were analyzed.The coding region of the interleukin 10 receptor A (IL10RA) gene was detected using direct Sanger sequencing in one of the patients.The literature was reviewed.Results The three newborns were 4-12 days old,all had symptoms of diarrhca,mucosanguineous feces and oral ulcers,accompanied by hypoalbuminemia and a family history.Two of these infants had perianal lesions,and one had liver damage and scizures.All three patients had elevated white blood cells and were anti-proteinase 3 positive.Two had elevated C-reactive protein and erythrocyte sedimentation rate,and one had positive antinuclcar antibodies and double stranded DNA antibodies.Colonoscopy showed multiple ulcers affecting the ileocecum and colon.The infants received treatment including antibiotics,switching formula feeding and 5-aminosalicylic acid.After treatment,one infant was cured,one died although glucocorticoids and azathioprine were used,and the other with a IL10RA gene mutation recovered,this infant had a compound heterozygous mutation with c.301C ＞ T (p.Arg101Trp),c.421G ＞ A (p.Gly141Arg) and whose parents were carriers.The literature review showed that fever and abnorrnal defecation were the main clinical features,and examination of serum antibodies showed a lower positive rate.The patients had a poor response to medications and most required surgery.IL10RA gene mutations were detected in some patients.Conclusions Neonates with diarrhea and a family history may have IBD and should undergo colonoscopy as early as possible.

Objective To study the neurological prognosis of neonates with ventriculomegaly and its influencing factors.Method A retrospective study was conducted among neonates with ventriculomegaly in Peking University First Hospital from January 2013 to December 2015.A series of cranial ultrasonography were performed after birth and the Gesell development scale was conpleted after six months.x2 test and two-independent-sample t test were used for statistical analysis.Result Among 103 cases of ventriculomegaly,95 cases (92.2％) had mildly enlarged lateral ventricles and 8 cases (7.8％) significantly enlarged.83 cases received serial cranial ultrasound examinations after birth.The lateral ventricles of 9 patients (10.8％) bacame wider and 74 (89.2％) not.The Gesell development scales were completed in 65 cases 6 months after birth.Among them,8 patients with widening lateral ventricles got poor prognosis (100％).Among 57 patients without progressively widening lateral ventricles,6 (10.5％) had poor prognosis.The difference was statistically significant (P ＜ 0.001).No correlation was found between the severity of the lateral ventricle widening and the neurological outcome (P =1.000).There were 2 cases with other abnormalities,and 1 case got poor prognosis on follow-up.Conclusion Most neonatal ventriculomegaly patients have mild and isolated lateral ventricle enlargement.Most of them remain stable or gradually return to normal.The patients with progressively widening lateral ventricles are likely to have adverse neurological prognosis.

Objective To demonstrate the value of eombined application of prenatal ultrasonography with fetal magnetic resonance imaging(MRI) in the diagnosis of monochorionic muhifetal realformations. Methods Fourteen cases of muhifetal malformations,detected by prenatal ultrasonography,received MRI within 48 h afterwards.All diagnosis were confirmed after delivery or mid-term termination.All imaging results of the 14 cases were retrospectively reviewed. Results Among the 14 cases,there were 7 acardias,5 Conjoined twins and 2 demise of multifetuses.Comparing ultrasound with MRI,we found that:(1)In cases with acardia and demise of multifetusea,ultrasound could diagnose correctly and be an important tool for follow-up,while MRI could demonstrate organs and structures of the acardiac recipient more clearly and detect the secondary changes of brain in the donor and survived fetus.(2)In Conjoined twins,ultrasound was superior to MRI in demonstrating the structure and function of cardiovascular system : and equivalent to MRI in identifying stomach,kidney,bladder and limbs;but inferior to MRI in identifying esophagus,lung,liver and intestinal,especially in the brain. And MRI could demonstrate two fetuses and the relationship between them in COnjoined twins simultaneously. Conclusions Prenatal ultrasonography and MRI have their own advantages and disadvantages in diagnosing monochorionic multifetal malformations.But the combination of prenatal ultrasonography and fetal MRI may be more valuable.

Objective To investigate the differential diagnostic value of computed tomography (CT) combined with serum tumor markers in borderline ovarian tumors (BOT) and benign epithelial ovarian tumors (BET).Methods The CT data in 28 patients with BOT and 41 patients with BET,both confirmed by surgery and pathological,were analyzed retrospectively.Their preoperative serum carbohydrate antigen 125 (CA125),human epididymis secretory protein 4 (HE4) and carcinoembryonic antigen (CEA) detection results were collected.The CT images features and serum tumor markers levels were compared between the two groups.Results The difference in the appearance rate of tumor solid composition,thick septum and wall nodule between the two groups had statistical significance (x2 =25.135,5.240,5.066,P＜0.05).The serum CA125 level had statistical difference between the two groups (Z=3.202,P＜0.05),while serum HE4 and CEA levels had no statistically significant difference between the two groups(Z=0.330,1.122,P＞0.05).The optimal critical value,sensitivity and specificity of serum CA125 level in differential diagnosis of two kinds of tumor was 42.45 U/mL,53.6％ and 85.4％.The overall diagnostic rate of solid composition and thick septum for diagnosing the two kinds of tumor was 78.5 ％.The overall diagnostic rate of solid composition,thick septum and CA125 level for diagnosing the two kinds of tumor was 81.2％.Conclusion The appearance of solid composition,thick septum and serum CA125 level increase in epithelial ovarian tumor may help to identify BOT and BET.

Objective To study the characteristics and its risk fastors of brain development of the preterm infant early after birth in amplitude-integrated electroencephalography(aEEG). Methods The 153 preterm infants who had seen a doctor in Peking University First Hospital from April 2009 to August 2013 accepted the aEEG check at term of corrected gestational age ( ≥ 38 weeks but < 42 weeks of corrected gestational age). The risk factors of brain development, such as gestational age ( < 30, 30 ≤ - ≤ 33+6 and 34≤-≤36+6 weeks), clinical informations [relatively stable group including 104 cases without any serious complications or brain injury, the group only suffering from a serious brain injury (19 cases), and the group only suffering from severe systemic disease (30 cases)] and nutrition (good or malnutrition), were analyzed. Also the relationship between the aEEG and the cranial ultrasound detected at the same time and the Gesell Developmental Scale at six months of corrected gestational age. Theχ2 test, two independent samples t-test and Logistic regression analysis were used for statistical analysis. Results The aEEG of 52%(79/153) cases reached the level of normal full-term newborn at term of corrected gestational age, only 48% (74/153) were abnormal. The abnormal rate of aEEG results in relatively stable preterm infants decreased from 3/6 (<30 weeks) to 35%(13/37) at 34 ≤ - ≤ 36+6 weeks, but the difference was not statistically significant (χ2=1.998, P=0.353). The abnormal rate of aEEG results in the group suffering from a serious brain injury was higher than the relatively stable preterm infants [14/19 vs 44%(46/104) ,χ2=5.578, P=0.024]. In relatively stable preterm infants, there was no difference of the abnormal rate of the aEEG results between intrauterine malnutrition group and good nutrition group [46%(19/41) vs 43%(27/63),χ2=0.122, P=0.727]. Neither was between extrauterine malnutrition group and good nutrition group [52%(13/25) vs 42%(33/79),χ2=0.805, P=0.369]. Serious brain injury was independent risk factor of abnormal aEEG (OR=3.453, 95%CI: 1.177-10.132, P=0.024). The coincidence rate of aEEG and the cranial ultrasound examination or the scores of Gesell Developmental Scale was 57%(56/98) and 50%(10/20), respectively. Conclusions The brain catch-up development may appears early after birth in preterm infants, which are impaired by lower gestational age and the severe brain injury. It is more effective of aEEG for evaluating the brain development of preterm infants when combines with other methods.

Objective To study the characteristics of gastroesophageal reflux (GER) in term neonates and the association between the reflux behaviors and gastroesophageal reflux events by multichannel intraluminal impedance-pH monitoring retrospectively.Method Full term neonates suspected to have gastroesophageal reflux,admitted to neonatal ward of our Hospital from November 2016 to December 2017 were enrolled for the study.All underwent 24-hour esophageal multichannel intraluminal impedance-pH (24 h MII-pH) monitoring.They were assigned into physiologic GER group and pathologic GER group.Data of demographic characteristics,clinical symptoms,24 h MII-pH results and indecies for evaluating the association between symptoms and reflux events were collected and analyzed.Result A total of 31 cases were enrolled.The median age of starting 24 MII-pH monitoring was 7 days (range from 2 to 28 days).15 cases were diagnosed with pathologic GER (48.4％),and 16 cases were diagnosed with physiologic GER.The symptoms and signs were persistent vomiting,incessant crying,desaturation (oxygen desaturation) and unexplained transient events (including cyanosis or suspected seizure),case number was 12,9,6,2,and 1 respectively.In the pathologic group,the median of total acid reflux 52 (7 to 80),total weakly acidic reflux 58 (19 to 114);In the physiologic group was 36 (3 to 55),35 (6 to 55) respectively.The neonates in pathologic group had more acidic reflux (both before and after feeding),total weak acid reflux and liquid reflux than physiological GER group,which showed statistical significance (P ＜ 0.05).While there was no significant difference in acid reflux time of total,before feeding and after feeding (P ＞0.05).It was proved that the percentage of positive symptom indices of vomiting,postprandial transient events,incessant crying after feeding,and desaturation associated with GER were 100％,100％,66.7％and 33.3％ retrospectively,which indicate that postprandial transient events were associate with GER,and incessant crying,desaturation were partially related to GER.And no association was found between bradycardia and reflux events.Conclusion Pathological GER of term neonates mainly manifest as reflux of weakly acidic and liquid.24 h MII-pH monitoring could detect weakly acidic reflux and weakly alkaline reflux,so it would be the recommended diagnostic tool for neonatal gastroesophageal reflux.Despite vomiting,special attention should be paid to symptoms associated with GER,such as incessant crying,and unexplained transient events et al.

Objective To study the clinical characteristics of the newborns with gastroesophageal reflux (GER),and to compare the complications and outcomes of different degrees of reflux retrospectively. Methods Neo-nates diagnosed with GER by using upper gastrointestinal series admitted to neonatal ward of Peking University First Hospital from August 2008 to September 2017 were enrolled for the study. Data of demographic characteristics,radio-graphic imaging findings,treatment methods and efficacy of therapy of patients were collected. Infants enrolled in this study were followed up for 1 year after being discharged from hospital. The lasting time of reflux symptoms with different degrees of reflux were compared. Results A total of 47 cases of GER were enrolled,of whom 23 cases were male,and 24 cases were female. There were 42 term infants and 5 preterm infants. Their gestational age ranged from 34 to 41 weeks[(38. 9 ± 1. 6)weeks],and birth weight was from 1990 g to 4430 g[(3157. 3 ± 574. 0)g]. The median onset age was 2 days,ranged from 1 to 21 days. The clinical manifestations were recurrent vomiting (40 / 47 cases,85. 1％) and paroxysmal cyanosis (7 / 47 cases,14. 9％). Complications presented as poor weight gain (42 / 47 cases,89. 4％), aspiration pneumonia (24 / 47 cases,51. 1％)and apnea (1 / 47 cases,2. 1％). The findings of upper gastrointestinal imaging assigned the patients into 2 groups,13 cases of mild reflux group and 34 cases of severe reflux group. After po-sitional therapy together with domperidone,44 patients showed improvement of symptoms. After their discharge,the lasting time of reflux symptoms in the mild reflux group was significantly shorter than in the severe group [4 weeks(2 -8 weeks)vs. 8 weeks (2 - 40 weeks)],and the difference was significant(Z = - 2. 336,P < 0. 05). Conclusions Neonates with GER mainly manifest recurrent vomiting,and most of them have a favorable prognosis. The reflux symp-toms last for less time in the mild reflux infants than in the severe patients.

OBJECTIVE: To investigate the relationship between behavioral changes and cell proliferation in subventricular zone (SVZ) after intracerebral hemorrhage (ICH) in adult rats. METHODS: Forty male Sprague-Dawley rats were randomly assigned into a behavioral test group (n = 19) and a bromodeoxyuridine (Brdu) immunohistochemical staining group (n = 21). ICH was induced by stereotactial injection of collagenase type VII into straitum. Proliferating cells were labeled by injection intrapenitoneally of bromodeoxyuridine in a pulse protocal. Rats were killed on day 2, 7, 14, and 28 after the ICH. Behavioral test and bromodeoxyuridine immunohistochemical staining were performed.Behavioral change was tested by forelimb placing test, Berderson's grade and corner turn test in rats. Cell counting of bromodeoxyuridine immunoreactive cells in SVZ was performed. RESULTS: There were marked neurological deficits by day 2 after the ICH, with progressive recovery of function over 4 weeks. A significant increase in the number of bromodeoxyuridine immunoreactive cells in the ipsilateral and cortralateral SVZ was observed from 2 to 14 days with a peak at day 7 after the ICH compared with the sham group.The bromodeoxyuridine immunoreactive cells decreased to control level 28 days after the ICH. CONCLUSION Proliferation of cells in SVZ corresponds well with behavioral recovery after the ICH, which indicates SVZ cells may be involved in the repairing process after the ICH.
Animals ; Behavior, Animal ; physiology ; Cell Proliferation ; Cerebral Ventricles ; pathology ; Intracranial Hemorrhages ; pathology ; physiopathology ; Male ; Random Allocation ; Rats ; Rats, Sprague-Dawley

We report a fetus with recurrent intraparenchymal hemorrhage and cystic leukomalacia during pregnancy who was postnatally detected with a de novo mutation in the COL4A1 gene by genetic testing of umbilical cord blood. Multiple fresh hemorrhagic foci were detected in the fetal brain parenchyma and cerebellar hemisphere by ultrasound at 25 gestational weeks. Regular re-examination of the nervous system's ultrasound and magnetic resonance imaging (MRI) indicated recurrent multiple intraparenchymal hemorrhages followed by cystic leukomalacia. However, karyotyping and chromosomal microarray analysis of amniotic fluid showed no abnormality. The newborn was born by cesarean section at 37 +3 gestational weeks with an Apgar score of 10 at 1 and 5 min. Repeated apnea occurred after birth. MRI detected new intraparenchymal hemorrhage and cystic leukomalacia on the six-day of life. The infant's limb muscle tone remained low on the 90-day follow-up. The patient was lost to follow up. Whole-exome sequencing of the cord blood identified a de novo heterozygous mutation- c.4738G>A in the COL4A1 gene (NM_001845.4; p.G1580S) neither parent carried. It suggests that the genetic test of the COL4A1 mutation should be considered for fetuses with intracranial hemorrhage in the prenatal diagnosis, especially those with recurrent fetal intraparenchymal hemorrhage followed by cystic leukomalacia. Genetic tests could help analyze the fetal prognosis, and guide the delivery mode.