Unexplained diarrhea and cholestasis are common clinical phenotypes in newborns, indicating there is only a little common genetic basis for these conditions. However, it has been reported that defects in the UNC45A gene can lead to osteo-oto-hepato-enteric syndrome. However, to date, only 10 patients with this syndrome have been reported in 2 studies; therefore, there is still a lack of analysis regarding the correlation between disease phenotype and genotype. Trio-whole exome sequencing was conducted using DNA samples from a newborn with congenital diarrhea and cholestasis from a Chinese Han family. The UNC45A variants were verified using Sanger sequencing. In addition, we applied a crystal structure model to analyze the potential hazards associated with the variants. The plasmids were constructed in vitro and transfected into human 293T cells for Western blot (WB) analysis. After the mutant protein was fused with the Green Fluorescent Protein label, intracellular localization was observed using laser confocal microscopy. The gene detection results showed that the UNC45A gene of the newborn examined in the present study harbored the compound heterozygous variants p.Arg819Ter, and p.Leu237Pro; this was confirmed via Sanger sequencing. Analysis of the Leu237Pro crystal structure model suggested that this variant may decrease local structural stability and affect protein function. The Western blot and laser confocal microscopy observation results suggested that the Leu237Pro mutation leads to reduced protein expression, while the Arg819Ter mutation completely inhibits the expression of the protein. The compound heterozygous variants of UNC45A (p.Arg819Ter and p.Leu237Pro) may be pathogenic factors of congenital diarrhea and cholestasis in this neonatal patient. Therefore, UNC45A deficiency should be considered when intractable diarrhea and cholestasis occur in newborns.

Myofibrillar myopathy (MFM) is characterized by phenotypic heterogeneity; decreased function of the myosin-directed chaperone, UNC-45B protein, leads to MFM II, which is characterized by slow progressive proximal myasthenia. Currently, only two studies have reported 11 cases worldwide. This study aimed to conduct genetic research and etiological analysis of a neonatal case of perinatal myasthenia who eventually died due to auto-nomic dyspnea. The case involved a newborn female admitted for weak cries and groaning. Physical examination revealed shallow and irregular spontaneous breathing, difficulty feeding, hip flexion and knee flexion in both lower limbs, hypotonia (level 1), less translation action, and inability to resist gravity. The child died at 23 days after birth. Gene testing, mutation analysis, and crystal structure analysis were conducted. Cell culture and plasmid construction were conducted, followed by western blot analysis. Pathological changes, including Z-line breakage, were observed in the muscle biopsies of different tissues. Gene testing showed that UNC-45B had a novel compound heterozygous mutation (c.2357T>A/p.Met786Lys, c.2591A>C/p.His864Pro), and in vitro functional experiments showed that the variants could lead to a decrease in protein expression. This study ex-pands the UNC-45B mutation and phenotype spectrum by reporting an MFM II case in a Chinese patient for the first time.

Background Neonatal hypoxic-ischemic encephalopathy (HIE) is an important cause of mortality and morbidity. Effective indicators for the early diagnosis of brain injury after HIE and prognosis are lacking. This study aimed to examine the predictive value of serum neuron-specific enolase (NSE), amplitude-integrated electroencephalography (aEEG), and magnetic resonance imaging (MRI), alone and in combination, for the neurological outcomes in neonates with HIE. Methods Newborns with HIE born and treated at the Third Affiliated Hospital of An-Hui Medical University were consecutively included in this prospective cohort study (June 2013 to December 2020). Encephalopathy was classified as mild, moderate or severe according to Samat and Sarnat. All patients were assessed serum 1-day NSE and 3-day NSE levels after birth. The children were classified by neurological examination and Bayley Scales of Infant Development II at 18 months of age. ROC analysis was used to evaluate the predictive accuracy of the neurodevelopment outcomes. Results A total of 50 HIE neonates were enrolled (normal group: 32 (64.0%), moderate delay: 5 (10.0%), severe delay: 30(26.0%)) according to Bayley II scores. Serum 3-day NSE levels increased with worsening neurodevelopment outcomes (normal: 20.52 ± 6.42 μg/L vs. moderate: 39.82 ± 5.92 μg/L vs. severe: 44.60 ± 9.01 μg/L, P < 0.001). The MRI findings at 4–7 days after birth were significantly different among the three groups ( P < 0.001). Forty-two (84.0%) children had abnormal aEEG. The combination of the three abnormalities combined together had 100% sensitivity, 97.70% specificity, 98.25% PPV, and 99.98% NPV. Conclusions MRI, aEEG, and 3-day NSE can predict the neurological prognosis of newborns with HIE without hypothermia treatment. Their combination can improve the predictive ability for long-term neurobehavioral prognosis.

INTRODUCTION:Pancreatic pseudocyst is one of the most common cystic lesions. It always occurs following pancreatitis and is rarely found in combination with pancreatic adenocarcinoma. The coexistence of exocrine and neuroendocrine tumors of the pancreas is also infrequent. We herein report a case of simultaneous occurrence of a pancreatic ductal adenocarcinoma (PDAC), pseudocyst, and neuroendocrine tumor (NET), showing a "side-by-side pattern." PATIENT CONCERN:A 74-year-old man was hospitalized for epigastric pain and poor appetite. He had no history of pancreatitis, alcohol consumption, or smoking. DIAGNOSIS AND INTERVENTION:Abdominal enhanced computed tomography and magnetic resonance imaging revealed a 15 × 8 cm cystic lesion with poor enhancement located in the tail of the pancreas. The distal aspect of the main pancreatic duct was dilated. The pancreatic parenchyma adjacent to the cystic lesion showed slightly heterogeneous enhancement on computed tomography and magnetic resonance imaging. Laboratory examination showed an elevated carbohydrate antigen 19-9 serum level. The patient was preoperatively diagnosed with intraductal papillary mucinous neoplasm and subsequently underwent laparotomy. During the operation, a hard white tumor measuring about 4 × 3 cm was palpated adjacent to the cystic lesion on the duodenal side, and a 0.6-cm nodule was simultaneously found in the pancreatic tail. Therefore, total pancreatectomy and splenectomy were performed. Histopathological examination showed that the tumor was PDAC with an adjacent pseudocyst, and the small nodule was suggestive of a NET. OUTCOMES:The patient survived without recurrence or metastasis in the follow-up visit 10 months after the operation and adjuvant chemotherapy. CONCLUSIONS:The concomitant occurrence of a PDAC, pseudocyst, and NET has not been previously reported. We suggest that if a pancreatic cyst is found, the coincidental occurrence of a malignant tumor should be considered, especially if the carbohydrate antigen 19-9 level is increased. Additionally, dilation of the pancreatic duct may be a diagnostic clue. Furthermore, the simultaneous occurrence of pancreatic endocrine and exocrine tumors is very uncommon. Preoperative diagnosis becomes difficult because of the lack of specific symptoms and radiological features.

目的 探讨枸橼酸咖啡因与氨茶碱对呼吸暂停早产儿的短期临床疗效及后期神经行为发育的影响，以及可能的机制。 方法 选择2014年1月至2016年1月在安徽医科大学第三附属医院新生儿科接受住院治疗的原发性呼吸暂停早产儿50例，采用前瞻性随机数字表法分为2组：咖啡因组(25例)，枸橼酸咖啡因首剂负荷量20 mg/kg，24 h后给予维持量5 mg/kg，1次/d，静脉泵入；氨茶碱组(25例)，首剂负荷量5 mg/kg，12 h后给予维持量2 mg/kg，每12 h 1次，静脉泵入。出生8～14 d及矫正胎龄(PMA)40周分别行头颅MRI检查，评估脑白质损伤(WMD)；PMA 6个月时应用Bayle婴幼儿发育量表测试智力发育指数(MDI)以及精神运动发育指数(PDI)。 结果 2组患儿在性别、出生胎龄及体质量、产前孕母糖皮质激素应用、受孕及分娩方式、5 min Apgar评分、接受氧疗例数、辅助通气(包括经鼻持续呼吸道正压通气及机械通气)和表面活性物质的应用等方面差异均无统计学意义(均P>0.05)。2组患儿病死率及支气管肺发育不良的发病率差异均无统计学意义(均P>0.05)，且首次头颅MRI显示的WMD无统计学意义(χ2＝0.342，P>0.05)。PMA 40周时复查头颅MRI显示，咖啡因组患儿WMD较氨茶碱组患儿明显改善，差异有统计学意义(χ2＝8.505，P<0.01)；且6个月时Bayley婴幼儿发展量表评估，咖啡因组患儿MDI[(101.16±17.61)分]及PDI[(103.24±15.50)分]得分明显高于氨茶碱组[MDI：(85.88±23.94)分、PDI：(86.08±22.45)分，t＝2.570、3.150，均P<0.01]。且PMA 40周时WMD分级与6个月时的MDI、PDI均呈明显负相关(r＝－0.759、－0.703，均P<0.05)。 结论 枸橼酸咖啡可明显改善呼吸暂停早产儿6个月时的神经行为发育，可能是通过促进WMD的恢复获得。

A male newborn baby was delivered by caesarean section at 38 weeks' gestational age because of a prenatal ultrasound diagnosis of a congenital diaphragmatic hernia. Shortly after delivery he was in respiratory distress and cyanotic, and unable to move freely. He was rapidly intubated and treated with high-frequency oscillatory ventilation. When he was stable, an x-ray was carried out at the bedside. This showed herniated bowel loops in the left hemithorax, displacement of the mediastinum to the contralateral side, and severely reduced lung space and unclear lung fields bilaterally.

Objective To explore the relationship between lung function growth and brain injury in preterm infants. Method All preterm infants were entered in the study that came from neonatal department,the third affiliated hospital of Anhui Medical University from June 2012 to June 2014,excluding infants suffering from pulmonary infection,oxygen inhalation and mechanical ventilation therapy may affect pulmonary function. The preterm infants were divided as brain injury group and non brain injury group based on the clinical manifestations and brain MRI results,lung function test was performed on them at a postmenstrual age of 40 weeks,and the characteristics and differences in pul-monary function of preterm infants were compared between the two groups. Result Totally 55 preterm neonates who conforms to the selected standards were included in this study;among them,22 neonates (male 12,female 10) were divided as the brain injury group and 33 (male 19,female 14) as the non brain injury group;in the abnormal group,the respiratory rate (RR) [(51. 4 ± 6. 3) times/min VS (42. 8 ± 5. 8) times/min,t=5. 19] and minute ventilation volume[(431. 0 ± 84. 4)mL/min VS (344. 3 ± 64. 5) mL/min,t=4. 31,P <0. 05]were higher than that in the normal group;Time to peak ratio[(28. 1 ± 4. 3) %VS (35. 4 ± 7. 2)%,t= -4. 27],the peak volume ratio[(32. 8 ± 2. 3) %VS (39. 9 ± 3. 8)%,t= -9. 42],peak expiratory flow rate [(58. 7 ± 11. 7) mL/s VS (67. 7 ± 13. 7) mL/s,t= -2. 54] and tidal expiratory flow 75%remaining tidal volume,tidal expiratory flow 50% remaining tidal volume,tidal expiratory flow 25% remaining tidal vol-ume [(51. 7 ± 8. 4)mL/s VS (61. 6 ± 12. 8) mL/s,t = -3. 19;(34. 4 ± 4. 9) mL/s VS (47. 4 ± 7. 4) mL/s,t = -7. 23;( 31. 5 ± 4. 0)mL/s VS (40. 7 ± 7. 3) mL/s,t= -6. 24,P <0. 05] were less than that in the normal group;there were significant differences in the above parameters of lung function between the two groups (P <0. 05). Conclusion Lung function growth of the premature infants with brain injury are more immature compared with that without brain injury.

Objective To study the intelligence quotient(IQ) profile of the children with idiopathic generalized tonic-clonic seizure (GTCS) and the factors influencing IQ of them.Methods All 28 children with GTCS were selected who were aged 9 ～ 16 years in 20 GTCS families in a mountain area of the south of Anhui Province,all available healthy siblings of the children included in the epilepsy group,did not have epilepsy,and were nearest in age to the children with GTCS ( control group 1 ),and thirty children aged 9 ～ 16 years old who had lived in the same village ( control group 2) entered into our study.The IQ was studied of the three groups of children and the factors influencing IQ of children with GTCS at the same time.The data were input SPSS12.0 and analyzed.Results The IQ of children with GTCS(85.64 ±20.57)was lower than that control group 1( 103.39 ± 11.17)and the control group 2 ( 106.17 ± 11.67).The difference between children with GTCS and the two control groups were significant for almost all the subtest quotients except completion of drawing and picture arrangement.No significant differences were found between the control group 1 and the control group 2 on the IQ and the subtest quotients.IQ scores of children with GTCS showed significant linear correlation with father's education( r=0.453,P＜0.01 ),age at onset of epilepsy( r=0.506,P＜0.01 ),duration of seizure disorder( r=-0.533,P＜0.0l ),status epilepticus( r=-0.732,P＜0.01),total number of seizures( r=-0.761,P＜0.01) and seizure frequency ( r=-0.708,P ＜ 0.01 ).Conclusion The IQ scores of the children with idiopathic GTCS are lower significantly than general children population.Epilepsy-related variables affecting IQ scores of the children with idiopathic GTCS are duration of seizure disorder,status epilepticus,age at onset of epilepsy,total number of seizures,seizure frequency.

目的 探讨血清学指标HA、PⅢP、LN、Ⅳ-C与肝纤维化程度的关系.方法 选取42只普通级家兔,建立家兔肝纤维化模型,然后进行肝纤维化血清学检查.同时取肝脏做病理学检查.数据处理应用SPSS11.0统计分析软件中的单因素方差分析进行分析,P<0.05为有统计学意义.结果 病理学检查分别获得轻、中、重度组肝纤维化模型,肝纤维化血清学分析结果为HA具有统计学差异(P<0.05).结论 在血清学检查中,以HA判断肝纤维化程度的价值较高,PⅢP、LN、Ⅳ-C的诊断价值在本试验中未得到证实.