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Objective:To investigate the clinical features and genetic mutations of microvillus inclusion disease (MVID).Methods:Clinical features and gene sequencing results of a neonate with MVID in Children's Hospital of Chongqing Medical University in August 2019 were retrospectively analyzed. Literature was retrieved up to October 2021, with the terms of microvillus inclusion disease, congenital microvilli atrophy, MVID, MYO5B, STX3, and STXBP2 in China National Knowledge Infrastructure, Wanfang Database, VIP database, and PubMed. Clinical features, diagnosis, and treatment of the reported MVID cases were reviewed. Results:(1) Case report: A male infant presented with jaundice two days after birth and was admitted to our hospital. Clinical features included intractable diarrhea, intermittent abdominal distension, uncorrectable dehydration, and weight loss. Laboratory test results indicated metabolic acidosis, electrolyte disorder, and cholestasis. Whole exome sequencing confirmed the diagnosis of MVID in this baby boy with compound heterozygous mutations of c.1021C>T(p.Q341*) and c.1125G>A(p.W375*) in the MYO5B gene, which were inherited from the father and the mother, respectively. (2) Literature review: Except for the present case, 31 patients from 20 articles were reviewed, and the typical clinical manifestations were intractable diarrhea, accompanied by dehydration, metabolic acidosis, electrolyte disorder, etc. Some patients also developed extra-gastrointestinal symptoms, including feeding difficulties and malnutrition (8/18), respiratory distress syndrome (4/18) and jaundice/cholestasis (4/18) in patients with MYO5B mutations; feeding difficulties and malnutrition (2/5), respiratory distress syndrome (1/5), and sepsis (1/5) in patients with STX3 mutations; feeding difficulties (2/9), respiratory distress syndrome (1/9), jaundice/cholestasis (1/9), sepsis (1/9), and hypoglycemia (1/9) in patients with STXBP2 mutations. In terms of the demographic data and prenatal examination, preterm birth (8/18), fetal bowel dilatation (5/18), polyhydramnios (5/18), parental consanguinity (2/18), and meconium-stained amniotic fluid (2/18) occurred among patients with MYO5B mutations. In those with STX3 mutations, parental consanguinity (3/5), fetal bowel dilatation (1/5), polyhydramnios (1/5), and meconium-stained amniotic fluid (1/5) occurred. Of nine patients with STXBP2 mutations, parental consanguinity (3/9), preterm birth (2/9), and polyhydramnios (2/9) occurred. Conclusions:MVID has atypical clinical features and a high mortality, resulting in difficulty in the diagnosis and treatment. The possibility of MVID should be considered when an infant presents with intractable diarrhea, dehydration, metabolic acidosis, and electrolyte disorder accompanied by multiple extra-gastrointestinal symptoms. Early identification of MYO5B, STX3, and STXBP2 mutations will benefit prompt intervention, prognosis evaluation, and genetic counseling.
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Necrotizing enterocolitis (NEC) is one of the acquired intestinal inflammatory disease in neonate, with a high mortality rate.The morbidity and mortality rate of NEC remain at high level although recognition for NEC has been improved in last decades.Understanding of this disease has been furthered in latest years.The research advance of NEC is reviewed in present which is focus on the diagnosis and medical treatment to provide new evidence for further study.
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Objective To explore the perinatal risk factors of early onset thrombocytopenia (EOT) in full-term small for gestational age infants. Methods A 1:1 or 1:2 matched case control study was carried out. A total of 93 full-term small for gestational age infants with EOT were selected from April 2008 to July 2014 as the case group, and the non EOT full-term small for gestational age infants with the birth weight difference <250 g and the gestational age difference <3 days were selected as the control group. The clinical data during perinatal period and laboratory examination results after admission were collected retrospectively. And the differences between the two groups were compared. Results The incidence of intrauterine distress (41.9％ vs. 25.8％, χ2=7.35, P=0.007), amniotic fluid contamination (39.8％ vs. 27％, χ2=4.66, P=0.031), and early-onset sepsis (39.8％ vs. 27％, χ2=4.66, P=0.031) were significantly higher in the case group than those in the control group. Conditional logistics regression analysis showed that intrauterine distress (β=0.60, OR=1.82, 95％CI=1.04～3.17, P=0.035) and early-onset sepsis (β=1.69, OR=5.44, 95％CI=1.11～26.76, P=0.037) were related to EOT. Conclusions Intrauterine distress and early-onset sepsis are risk factors for the onset of EOT in full-term small for gestational age infants.
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Objective To evaluate the value of fecal high mobility group box-1 (HMGB 1 ) in early diagnosis and prediction of the severity of neonatal necrotizing enterocolitis (NEC). Methods From July 2013 to June 2015 , the neonates who had distention, vomit, or gross blood in stool and were suspected of NEC were recruited as NEC group while hospitalized children without abdominal distension, vomiting, bloody diarrhea, or other gastrointestinal symptoms were recruited as the control group. Stool samples were collected on day 1 , 3 , 5 and 7 after admission. The level of HMGB 1 was measured by enzyme linked immunosorbent assay (ELISA). Results In the end, there were 46 cases in NEC group and 15 cases in control group. In NEC group, 29 cases were conifrmed of stageⅠof NEC by abdominal radiograph within 24 h after hospitalized, all of them were deteriorated to stageⅡphase in 4 days, and 10 cases were deteriorated to stageⅢ. Seventeen cases were conifrmed of stageⅡby abdominal radiograph within 24 h after hospitalized, 7 cases were deteriorated to stageⅢ. In 17 stageⅢcases, 11 cases received surgical treatment and 6 cases gave up. Eight cases survived and 3 died after surgery. The levels of HMGB 1 in NEC group on day 1 , 3 , 5 and 7 after hospitalized were higher than those in control group (P
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Early-onset neonatal sepsis (EONS) is one of the major causes of mortality in neonates, especially in very low birth weight infants. EONS has no speciifc manifestations, and progresses rapidly and unexpectedly. EONS is often missed diag-nosed or even misdiagnosed due to the absence of ideal diagnostic methods in current clinical practice, and this dilemma leads to the high mortality of EONS. Therefore the accurate diagnosis in the early stage of EONS is very important. This review describes the progress in diagnostic methods of EONS including culture, blood cell counts, molecular biological technique, procalcitonin and C-reactive protein measurements, cytokine proifling and some other novel means. It may provide useful information for early diagnosis of EONS.
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Necrotizing enterocolitis (NEC) is one of the severe gastrointestinal emergencies with high mortality in neo-natal period. Studies suggested that sepsis from NEC were associated with higher mortality in NEC. Therefore, it is important to explore the related factors and prevention measures of NEC and improve the prognosis of children with NEC. In recent years, studies have shown that the risk factors of sepsis in NEC included prematurity, low birth weight, long time of total parenteral nutrition supports and long duration of antibiotic exposure. The main pathogen of sepsis was gram-negative bacilli. Probiotics, glutamine and lactoferrin supplementation may reduce the incidence and severity of NEC, and may help further reduce the risk of gut-derived sepsis.
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Necrotizing enterocolitis (NEC) is the most common severe gastrointestinal emergency in neonatal period. Searching biomarkers to identify infants at greatest risk of developing NEC might be of importance for early diagnosis, effective treatment and better prognosis of NEC. Biomarkers from stool and urine attract great attention due to non-invasiveness and easy availability of fecal and urinary sampling. This article reviews the latest research progress of non-invasive biomarkers including intestinal fatty acid binding protein, serum amyloid A, complement C3a and C5a in urine;fecal lactoferrin, intestinal bacteria spectrum, fecal calprotectin, S100A12 and high mobility group box-1 protein.
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Objective To investigate the risk factors, pathogens spectrum and antimicrobial susceptibility of neonatal fungal septicemia. Methods Medical records of 23 neonates with fungal septicemia from May 2009 to August 2013 were analyzed retrospectively. Results A total of 36 strains of fungi including 20 strains of Candidaparapsilosis (55.6%) and 11 strains of Candidaalbicans (30.6%) were isolated from 23 patients. Fungal pathogens were susceptible to amphotericin and lfuorouracil, with susceptibility being 69.4%-77.8%. Prematurity, low birth weight, application of broad-spectrum antibiotics and invasive operation might be the risk factors of fungal septicemia. Fifteen cases (65.2%) had good outcomes (survival or partial restoration), while 8 cases (34.8%) had poor outcomes (withdrawing therapy or death). The duration of antifungal therapy in good prognosis group was longer than that in poor prognosis group (t=2.982, P<0.05). No significant difference in indicators of liver and kidney function was observed between before antifungal therapy and within 2 weeks after treatment. Meanwhile, no signiifcant difference of WBC was found between before antifungal therapy and within 2 weeks after treatment. The platelet counts were increased within one week after initial antifungal therapy (P<0.05). Conclusions Candida is the main pathogen of neonatal fungal septicemia and sensitive to amphotericin B. Long enough course of antifungal therapy is necessary to improve the cure rate.
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Objective: To investigate the risk factors for mortality in neonates with congenital esophageal atresia (CEA) and simple congenital heart disease (CHD) including atrial septal defect (ASD), ventricular septal defect (VSD) and patent ductus arteriosus (PDA). Methods The medical records of neonates with CEA and simple CHD who had surgery in Children’s Hospital of Chongqing Medical University from 1998 to 2013, were analyzed retrospectively. Factors including neonatal demographics, laboratory results and complications after surgery were compared between survivor and non-survivor groups. Results Seventy ifve cases were included in this study and the mortality was 10.67%(8/75). There was no signiifcant difference between non-survivor group (n=8) and survivor group (n=67) in factors such as gestational age, birth weight, age of admission, age at surgery, duration of surgery, full blood examination, serum electrolytes, blood gases, prevalence of septicemia, pneumothorax, and cold lesion syndrome. However, the prevalence of respiratory failure and heart failure in non-survivor group was higher than that in survivor group (75%vs. 9%, P=0.000;50%vs. 1.5%, P=0.000, respectively). Conclusions The poor outcome among neonates with CEA plus simple CHD might be associated with respiratory failure and heart failure.
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Objective The differences in pathogenic bacteria and their drug sensitivity in neonates with pneumonia were compared between:(1) neonates treated in NICU and stayed in common in-patient ward ; (2) neonates treated with ventilator or without ventilator; (3)neonates supported by different mechanical ventilation mode.Methods The data of 222 neonates with pneumonia hospitalized in the Children's Hospital of Chongqing Medical University between Jul.2012 to Jan.2013 were analyzed retrospectively.Patients were divided into NICU group(n =152) and common in-patient ward group (n =70).Meanwhile,in NICU group,the neonates were divided into inspiration support group (n =90) and without inspiration support group(n =62).Moreover,in inspiration support group,the patients were further divided into invasive ventilation group who were treated by mechanical ventilation support(n =74),and noninvasive ventilation group who were only treated by CPAP(n =16).The differences in pathogenic bacteria and their drug sensitivity were compared among different groups.Results 1.The findings of pathogenic bacteria of sputum culture:the pathogens were mainly Gram-negative bacilli both in NICU group and common in-patient ward group,but the ratio of Gram-negative bacilli in NICU group was significantly higher than that of common in-patient ward group[92.6％ (150/162 cases) vs 68.7％ (44/64 cases),x2 =28.846,P =0.000] ; the ratio of multidrug-resistant bacteria in NICU group was significantly higher than that in common in-patient ward group,[18.5％ (30/162 cases) vs 0,x2 =13.666,P =0.000].No difference in the ratio of Gram-negative bacilli was found between inspiration support group and without inspiration support group[91.6％ (108/118 cases) vs 95.5％ (42/44 cases),x2 =6.805,P =0.224].There was no significant difference in the ratio of multidrug-resistant bacteria between groups with or without inspiration support[20.4％(24/118 cases) vs 19.0％ (8/44 cases),x2 =0.095,P =0.826].No significant difference in the ratio of Gram-negative bacilli was found between the invasive ventilation group and the noninvasive ventilation group [90.2％ (92/102 cases) vs 100.0％ (16/16 cases),x2 =3.552,P =0.169].Escherichia coli,pseudomonas aeruginosa,acinetobacter bauman were the majority of multidrug resistant bacteria(drug-resistant rate was 66.0％-100.0％) in NICU group.2.Drug sensitivity results of sputum culture:the pseudomonas aeruginosa in the invasive ventilation group were resistant to conventional antibiotics,but sensitive to multiple stuck ring (drug-sensitive rate was 100.0％).Klebsiella pneumoniae subspecies,enterobacter cloacae had certain sensibility to imipenem and cilastatin sodium for injection use,meropenem,amikacin(drug-sensitive rate was 60.0％-100.0％).Because of these Gram-negative bacilli derived from different groups,even the same bacillus to the same antibiotics their drug-sensitive rate still had certain differences:the drug-sensitive rate of Gram-negative bacilli in NICU group was generally lower than that of common in-patient ward group;meanwhile,that in the inspiration support group was generally lower than that without inspiration support group ; moreover,that in the invasive ventilation group was generally lower than that of noninvasive ventilation group.The major Gram-negative bacilli in the common in-patient ward group had almost resistance to cefazolin sodium and ampicillin mostly(drug-resistant rate were 100.0％),but had sensibility to some extent to piperacillin/tazobactam and ceftazidime (drug-sensitive rate were 50.0％-70.0％) ;which also had higher sensibility to amikacin,levofloxacin,meropenem,imipenem and cilastatin sodium for injection use (drug-sensitive rate was ＞ 70.0％).Conclusions The pathogens were mainly Gram-negative bacilli in neonates treated in NICU with pneumonia.The top five bacilli were klebsiella pneumoniae subspecies,bauman acinetobacter,pseudomonas,enterobacter and escherichia coli.The neonates with pneumonia who were managed in NICU or treated with ventilator or supported by invasive ventilation might more easily infected by multidrug-resistant bacteria.Carbon penicillins,aminoglycoside antibiotics might be more effective during treating the neonates with pneumonia who are treated in NICU.The antibiotic containing enzyme inhibitor,or carbon penicillins,aminoglycosides and quinolones might be effective during treating the neonate with pneumonia who are managed in common in-patient ward.
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Objective To explore whether the neurons induced from mesenchymal stem cells(MSCs) have synapse function or not.Methods Passage 4-5 MSCs in good shape was induced by Salvia miltiorrhiza with optimized protocol for several times,and then the observation under inverted phase contrast microscope,immunofluorocytochemistry and the measurement of neurophysiological function were carried out.Ca2+ influx and synapse function were detected with laser-scanning confocal microscopy(LSCM),taking 50 mmol/L KCl as stimuli to evoke action potential.Results The cells that had been induced for 5 h at 4th time from MSCs,looked like neurons and displayed that the processes stretched out to form complex net.Immunofluorocytochemistry presented that the rate of TUJ-1 expression was(96.7?2.8)% and that of synaptophysin was(96.2?2.1)%.When the neuron-like cells were stimulated by high concentration of KCl,intracellular Ca2+ influx enhanced quickly.When the neuron-like cells were stimulated by high KCl solution for the first time,SynaptoRed-C2 anchored onto the membrane,and after the second excitation,the fluorescence intensity decreased quickly.Conclusion The neuron-like cells derived from MSCs that are induced by salvia miltiorrhiza with optimized protocol have synapse function.
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Objective To explore the distribution and differentiation of bone mesenchymal stem cells (MSCs) in the brain of neonatal rats with hypoxic ischemic encephalopathy (HIE). Methods MSCs were isolated and purified by adhering to the culture glassware wall and prelabeled with bromodeoxyuridine (BrdU) for 72 h before transplantation. The model of HIE was established. At 24 h after hypoxic ischemia, approximate 4?10 6 cells were injected into the brain of neonatal rats with HIE through the right side bregma. The Nestin, neuron specific enolase (NSE) and glial fibrillary acid protein (GFAP) were detected by immunofluorochemistry at 4 weeks after injection. Results Majority of MSCs were distributed in the cortex, hippocampus of the lesioned hemisphere. The number of MSCs was (2781?254) in the left hemisphere, but (4708?281) in the right hemisphere. There was significant difference (t=18.70, P0.05). The expression ratio of NSE was (3.79?0.95)% in the left hemisphere, but (5.69?1.48)% in the right hemisphere (t=3.404, P0.05). Conclusion MSCs are mainly distributed in the lesioned hemisphere and can differentiate into neuronal-like cells, express the mark of neural stem cells, neurons and neuroglial cells at 28 d after intracortical transplantation.