Genotype-phenotype correlations in a fetus with Kleefstra syndrome.

OBJECTIVE: Kleefstra syndrome (KS), formerly known as 9q subtelomeric deletion syndrome, is characterized by multiple structural abnormalities. However, most fetuses do not have obvious abnormal phenotypes. In this study, the fetus with KS presented with multiple system structural anomalies, and we aimed to explore the genotype-phenotype correlations of KS fetuses. CASE REPORT: Multiple systematic structural anomalies, including severe intrauterine growth restriction (IUGR) and cardiac defects, were detected by ultrasound in the fetus at 33 + 5 weeks' gestation. These abnormalities may be caused by the pathogenic deleted fragment at 9q34.3, including the euchromatic histone methyltransferase 1 (EHMT1) and collagen type V alpha 1 chain (COL5A1) genes, detected by copy number variation sequencing (CNV-seq). CONCLUSIONS: It is essential for clinicians to perform CNV-seq combined with multidisciplinary consultation for suspected KS fetuses, especially those with multiple systematic structural anomalies.

Neuroendoscopy surgery for hypertensive intracerebral hemorrhage with concurrent brain herniation: a retrospective study of comparison with craniotomy.

Background: Hypertensive intracerebral hemorrhage combined with cerebral hernia (HIH-CH) is a serious condition. Neuroendoscopy can effectively remove intracranial hematoma, but there is no relevant research support for its utility in patients with HIH-CH. The purpose of this study is to investigate the efficacy and safety of neuroendoscopy in patients with HIH-CH. Methods: Patients with HIH-CH who received craniotomy or neuroendoscopy treatment were included. The patients were divided into craniotomy (CHE) group and neuroendoscopy (NEHE) group. Clinical data and follow-up outcome of the two groups were collected. The primary outcome was hematoma clearance. Results: The hematoma clearance rate (%) of patients in NEHE group was 97.65 (92.75, 100.00), and that of patients in CHE group was 95.00 (90.00, 100.00), p > 0.05. The operation time and intraoperative bleeding volume of patients in NEHE group were significantly less than those in CHE group (p < 0.05). There was no significant difference in the volume of residual hematoma and the incidence of rebleeding between the two groups (p > 0.05). The length of stay in ICU in NEHE group was significantly shorter than that in CHE group (p < 0.05). Conclusion: Neuroendoscopy can safely and effectively remove the intracranial hematoma in patients with hypertensive intracerebral hemorrhage and cerebral hernia, significantly shorten the operation time, reduce the amount of intraoperative hemorrhage, shorten the ICU stay.

Pregnancy outcomes and genetic analysis for fetal ventriculomegaly.

Introduction: Fetal ventriculomegaly (VM) is associated with neurodevelopmental disorders, partly caused by genetic factor. Methods: To systematically investigate the genetic etiology of fetal VM and related pregnancy outcomes in different subgroups: IVM (isolated VM) and NIVM (non-isolated VM); unilateral and bilateral VM; mild, moderate, and severe VM, a retrospective study including 131 fetuses with VM was carried out from April 2017 to August 2022. Results: 82 cases underwent amniocentesis or cordocentesis, of whom 8 cases (9.8%) were found chromosomal abnormalities by karyotyping. Meanwhile, additional 8 cases (15.7%) with copy number variations (CNVs) were detected by copy number variation sequencing (CNV-seq). The detection rate (DR) of chromosomal abnormalities was higher in NIVM, bilateral VM and severe VM groups. And CNVs frequently occurred in NIVM, bilateral VM and moderate VM groups. In the NIVM group, the incidence of chromosomal aberrations and CNVs in multiple system anomalies (19.0%, 35.7%) was higher than that in single system anomalies (10.0%, 21.1%). After dynamic ultrasound follow-up, 124 cases were available in our cohort. 12 cases were further found other structural abnormalities, and lateral ventricular width was found increased in 8 cases and decreased in 15 cases. Meanwhile, 82 cases underwent fetal brain MRI, 10 cases of brain lesions and 11 cases of progression were additionally identified. With the involvement of a multidisciplinary team, 45 cases opted for termination of pregnancy (TOP) and 79 cases were delivered with live births. One infant death and one with developmental retardation were finally found during postnatal follow-ups. Discussion: CNV-seq combined with karyotyping could effectively improve the diagnostic rate in fetuses with VM. Meanwhile, dynamic ultrasound screening and multidisciplinary evaluation are also essential for assessing the possible outcomes of fetuses with VM.

Genetic analysis and management of a familial hypercholesterolemia pedigree with polygenic variants: Case report.

RATIONALE: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder typically caused by low density lipoprotein receptor (LDLR) gene mutation. Herein, we reported a FH pedigree with polygenic variants: LDLR, apolipoprotein B (APOB), and epoxide hydrolase 2 (EPHX2). PATIENT CONCERNS: A 10-year-old boy mainly presented multiple skin xanthomas and hypercholesterolemia. His family visited our hospital and was performed with pedigree whole exome sequencing (WES) at 20 + 3 weeks gestation of the mother's second pregnancy. DIAGNOSES: Based on the clinical features and genetic analysis, the pedigree was diagnosed with familial hypercholesterolemia. INTERVENTIONS: After genetic counseling, the couple opted to continue the pregnancy. Treatment advice and follow-up were offered to them. OUTCOMES: A novel compound heterozygous LDLR mutation: c.1009G>T and c.68-2A>G, derived from his parents respectively was revealed through pedigree WES, meanwhile, a maternal APOB gene variant: c.1670A>G and a paternal EPHX2 gene variant: c.548 dup of the proband were found together. Furthermore, the same compound heterozygous LDLR mutation as his was confirmed in his sister without APOB and EPHX2 variants in her fetal stage. LESSONS: WES combined with clinical features is essential for the diagnosis of FH, however, prenatal genetic testing results might bring more challenges to prenatal genetic counseling. Furthermore, it is more important to provide the guidance and early intervention for such families in the long run.

Effect of urokinase-type plasminogen activator combined with clinical stage and Barcelona Clinic Liver Cancer stage on the prognosis of patients with hepatocellular carcinoma.

Background: The aim of this investigation is to evaluate the association and potential mechanism between plasminogen activator urokinase (PLAU) and the prognosis of patients with liver hepatocellular carcinoma (LIHC). Methods: We verified PLAU expression and its correlation with LIHC patients' prognosis in The Cancer Genome Atlas (TCGA) database. The interaction network for protein-gene was established in the GeneMania database and the STRING database, and the association between PLAU and immune cells was assessed in Tumor Immune Estimation Resource (TIMER) and TCGA databases. The potential physiological mechanism was elucidated by the Gene Set Enrichment Analysis (GSEA) enrichment assessment. Finally, the individual clinical data of 100 LIHC patients were retrospectively evaluated to further analyze the clinical value of PLAU. Results: The PLAU expression in LIHC tissues was greater than in paracancerous tissues, and LIHC patients with low PLAU expression had better disease-specific survival (DSS), overall survival (OS), and progression free interval (PFI) than those with high PLAU expression. In the TIMER database, the PLAU expression was positively associated with six kinds of infiltrating immune cells: CD4+ T, neutrophils, CD8+ T, macrophages, B, and dendritic cells, while GSEA enrichment analysis indicated PLAU may impact the biological activities of LIHC by taking part in MAPK and JAK_STAT signaling pathways, angiogenesis, and P53. There were statistically significant differences in T-stage and Edmondson grading between the two groups of patients with high and low expression of PLAU (P<0.05). The tumor progression rates were 88% (44/50) and 92% (46/50) respectively in the low and high PLAU groups, with early recurrence rates of 60% (30/50) and 72% (36/50), and median PFS of 29.5 and 23 months, respectively. The COX regression analysis showed PLAU expression and CS and Barcelona Clinic Liver Cancer (BCLC) stages were independent prognostic factors affecting tumor progression in LIHC patients. Conclusions: The decreased expression of PLAU can prolong the DSS, OS, and PFI in LIHC patients, and can be utilized as a novel predictive index. PLAU combined with CS staging and BCLC staging has good clinical value in the early screening and prognosis of LIHC. These results reveal an efficient approach for developing anticancer strategies against LIHC.

DPAGT1-CDG: Recurrent fetal death.

BACKGROUND: Congenital disorders of glycosylation (CDG) are a series of relatively uncommon genetic disorders, and variants in the dolichyl-phosphate N-acetylglucosamine-1-phosphotransferase (DPAGT1) gene can cause DPAGT1-CDG, which is characterized by multisystem abnormalities: failure to thrive, psychomotor retardation, seizures, etc. PATIENTS: Two fetuses in a nonconsanguineous family recurrently presented with irregular skull morphology, micrognathia, adduction and supination by prenatal ultrasound. They were finally found dead in utero. Pedigree whole exome sequencing revealed novel compound heterozygous variants in the DPAGT1 gene. We also reviewed 11 previous reports associated with DPAGT1-CDG. CONCLUSIONS: We report novel variants in the DPAGT1 gene in two fetuses from the same family with intrauterine death.

Genetic etiology and pregnancy outcomes of fetuses with central nervous system anomalies.

PURPOSE: To investigate genetic etiology and pregnancy outcomes of fetal central nervous system (CNS) anomalies. METHODS: 217 fetuses with CNS anomalies were included in our cohort from January 2016 to December 2022. 124 cases received karyotyping and 73 cases simultaneously underwent copy number variant sequencing (CNV-seq). Dynamic ultrasound screening and pregnancy outcomes were followed up, including neonates' neurodevelopmental outcomes. RESULTS: (1) 20 types of CNS anomalies were revealed by ultrasound and the most common was ventriculomegaly. (2) 14 (11.3%) of 124 cases were found chromosomal abnormalities by karyotyping, and copy number variations (CNVs) were revealed in 13 (17.8%) of 73 cases by CNV-seq. Fetuses with non-isolated CNS anomalies had a higher detection rate (DR) of abnormal karyotypes and CNVs than those with isolated CNS anomalies (25.0% vs. 4.8%; 35.0% vs. 11.3%) (P < 0.05). And the DR of abnormal karyotypes was significantly higher in multiple CNS anomalies than in single CNS anomaly (16.7% vs. 2.8%, P < 0.05), while there were no significant differences in the DR of CNVs. (3) Through dynamic ultrasound, 12 cases were further found progression or additional malformations. (4) Pregnancy outcomes of 209 cases were obtained, including 136 (65.1%) live births, 3 (1.4%) intrauterine fetal deaths, and 70 (33.5%) terminated. Two neonatal deaths at 6 months and one infant with motor and intellectual disabilities were finally found after long-term follow-up. CONCLUSION: Genetic analysis combined with dynamic ultrasound screening and multidisciplinary consultation plays an important role in evaluating the prognosis of fetal CNS anomalies, especially for those with multiple CNS or extracranial abnormalities.

45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome.

The female characters with a 46, XY karyotype, historically termed Swyer syndrome, are commonly divided into complete and partial gonadal dysgenesis. The former is completely made up of the 46, XY chromosome, while the latter results from 45, X/46, XY mosaicism. Both of them are sex chromosome disorders and are typically characterized by delayed puberty and primary amenorrhea due to disruption of the embryonic gonads into testes. In this report, we described a young female with mos 45, X [2]/46, X, psu idic (Y) (q11.2) [48] by karyotyping. Further copy number variation sequencing (CNV-seq) and fluorescent in situ hybridization (FISH) verified her chromosome alteration. The following gonadectomy and hormone replacement therapy were carried out, and the menstrual cycle recovered along with the development of bilateral breasts and uteruses. Herein, we aim to provide clinical management strategies for the patient with Swyer syndrome in clinical practice.

Missed diagnosis of lissencephaly after prenatal diagnosis: A case report.

RATIONALE: Lissencephaly (LIS) is a rare and serious cortical malformation characterized by a smooth or nearly smooth brain surface. With the progress of molecular genetics, platelet-activating factor acetylhydrolase brain isoform Ib is the most frequent type during the fetal period. Here, we report an infant with LIS who was missed although undergoing prenatal diagnosis. We aim to share our experiences and lessons. PATIENT CONCERNS: A 2-month-old male infant presented recurrent convulsions. Karyotype and copy number variation sequencing were conducted to be normal at the 23-week gestation because of bipedal varus and ventricular septal defect (2.3 mm). After birth, he suffered from epilepsy confirmed by video electroencephalogram exam, meanwhile, computed tomography and magnetic resonance imaging revealed pachygyria. The infant was diagnosed with LIS carrying a de-novo mutation c.817 C > T (p.Arg273 Ter,138) in exon 8 of platelet-activating factor acetylhydrolase brain isoform Ib (NM_000430) detected by whole-exome sequencing. DIAGNOSES: Based on the clinical characteristics, imaging, and genetic test findings, the infant was diagnosed with LIS. INTERVENTIONS: The patient was treated with topiramate and dose was adjusted according to the seizure frequency. OUTCOMES: The infant had recurrent seizures. The muscle tone of his extremities increased, and he could not look up or turn over actively at the age of 6 months. LESSONS: Comprehensive evaluation of a multi-disciplinary team should be recommended for patients with epilepsy and cerebral hypoplasia. Individuals with LIS during the fetal period might be missed due to atypical features. In fetuses with structural abnormalities, if karyotype and copy number variation sequencing are both normal, whole-exome sequencing may be an effective complementary means to detect pathogenic variants.

Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype.

OBJECTIVE: We describe a fetus with a 2.12-Mb terminal deleted fragment in 16q associated with alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) and lymphedema-distichiasis syndrome (LDS) and intend to provide a comprehensive prenatal management strategy for the fetuses with ACDMPV and LDS through reviewing other similar published studies. METHODS: The fetus presented a series of diverse structural malformations including congenital cardiovascular, genitourinary and gastro-intestinal anomalies in ultrasound at 23 + 5 weeks of gestation (GA). Amniocentesis was conducted for karyotype analysis and copy number variation sequencing (CNV-seq) after informed consent. RESULTS: The fetal karyotype was 46,XX, however the result of CNV-seq showed an approximately 2.12-Mb deletion in 16q24.1q24.2 (85220000-87340000) × 1 indicating pathogenicity. CONCLUSION: Genomic testing should be recommend as a first line diagnostic tool for suspected ACDMPV and/or LDS or other genetic syndromes for the fetuses with structural abnormalities in clinical practice.

Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.

RATIONALE: Fetal skeletal anomalies are one of the most common and potentially pathogenic developmental abnormalities detected by ultrasound screening. Any suspected fetal skeletal dysplasias often require further comprehensive evaluations. PATIENT CONCERNS: Here 4 families with adverse fetal skeletal system histories were enrolled, including their histories of gestation, childbirth, familial skeletal abnormalities, and pregnancy outcomes. The corresponding diagnosis were done by whole exome sequencing (WES) combined with dynamic examination. DIAGNOSIS: All of the families were definitively diagnosed through cytogenetics, molecular genetics, ultrasound, combined with multidisciplinary evaluation. Both of the fetuses in case 1 and case 2 were diagnosed with thanatophoric dysplasia type I, while the neonate in case 3 was diagnosed with Apert syndrome and a 3-years-old proband daughter with Crouzon syndrome in case 4. INTERVENTIONS: We conducted karyotyping, copy number variation sequencing (CNV-seq), combined with WES to evaluate genetic conditions of abnormal fetus, neonate or proband patient. WES was preferred to obtain a relatively definitive diagnosis. OUTCOMES: In cases 1 and 2, the families decided to choose termination of pregnancy due to fatal dysplasias. The couple in case 3, delivered a female baby diagnosed with Apert syndrome. Fortunately, in case 4, the family, which had a 3-years-old baby with Crouzon syndrome, gave birth to a healthy baby through prenatal diagnosis. LESSONS SUBSECTIONS: Invasive prenatal diagnosis and dynamic assessments for the management of fetal skeletal dysplasias could contribute to revealing possible causes of fetal skeletal abnormalities and help clinicians conduct further genetic counseling in clinical practice.

A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.

RATIONALE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare neurodevelopmental disorder caused by loss-of-function variants in the Nuclear Receptor Subfamily 2 Group F Member 1 (NR2F1). Here, we report a case of fetal BBSOAS. The fetus is typically featured by bilateral ventricle widening in the late second trimester, meanwhile, a 7.94-Mb deletion fragment on 5q14.3q15 involving the whole NR2F1 gene was confirmed by copy number variation sequencing (CNV-Seq) combined with karyotyping analysis. Our aim is to provide comprehensive prenatal clinical management strategy for fetal BBSOAS. PATIENT CONCERNS: A 29-year-old primipara and her husband were referred to our prenatal diagnosis center due to the widening of bilateral ventricles at 29 + 1 weeks of gestation age. DIAGNOSES: Ultrasound revealed the fetal widening posterior horns of bilateral ventricles at the GA of 27 + 3 weeks, 11 mm on the left and 10 mm on the right. At the following 29 + 1 weeks, ultrasound showed the posterior horn of the left lateral ventricle: 12 mm while the width of the right decreased to 9 mm, and intracranial arachnoid cyst. Furthermore, MRI confirmed that intracranial cyst might originate from an enlarged cisterna venae magnae cerebri, with mild dilation of 13.5 mm on the left ventricle. The fetal karyotyping analysis and CNV-Seq detection confirmed a 7.94-Mb deleted fragment on 5q14.3q15 (89340000_97280000) through the amniocentesis at 29 + 4 weeks of GA. INTERVENTIONS: The fetus was closely monitored and underwent the following assessment by the multidisciplinary team. OUTCOMES: The pregnancy was terminated in the end. LESSONS: It is vital to use molecular and cytogenetical detections combined with a dynamic development history to make a definite diagnosis and evaluate the genetic status for the fetuses with BBSOAS.

An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12).

Male individuals with a 46, XX karyotype are commonly diagnosed with 46, XX male sex reversal syndrome, one of the rarest sex chromosomal anomalies. In this case, we report a rare XX male with Y-specific DNA sequences located near the end of chromosome 15 p-arm, which was verified by fluorescent in situ hybridization (FISH) as well as copy number variation sequencing (CNV-seq) based on the next- generation sequencing method (>100 Kb). To the best of our knowledge, there have been no reports of XX male with the Yp region transferred to the terminal of chromosome 15 short arm.

Changes in amplitude-integrated electroencephalography, neuron-specific enolase, and S100B in neonates with brain injury induced by neonatal hyperbilirubinemia and their significance.

OBJECTIVE: To explore the changes in amplitude-integrated electroencephalography (aEEG), neuron-specific enolase (NSE), and S100B in neonates with brain injury induced by neonatal hyperbilirubinemia (NHB). METHODS: 67 neonates with brain injury induced by NHB admitted to our hospital from March 2016 to October 2018 were included in a brain injury group (BIG), and 82 neonates with NHB but without brain injury in our hospital during the same period were included in a non-BIG. The two groups were compared regarding the rates of normal and abnormal aEEG results. RESULTS: The proportion of normal aEEG results in the BIG was significantly lower than that in the non-BIG, and the proportion of moderately and severely abnormal aEEG results in the BIG were both significantly higher than those in the non-BIG. The BIG showed significantly higher NSE and S100B levels than those of the non-BIG. The ROC curve for predicting prognosis showed that the AUC of aEEG, NSE, S100B, and the combined detection are 0.780, 0.754, 0.743, 0.788. The AUC > 0.700 indicated a good predictive value for the prognosis. CONCLUSION: The combination of aEEG, NSE, and S100B has good value in diagnosing injury induced by NHB and can predict prognosis moderately well.

[Clinical application of Excel spreadsheet with blood gas analysis in automatic judging the type of acid-base balance disorder].

OBJECTIVE: To judge the type of acid-base balance disorder automatically according to the results of arterial blood gas analysis by using the IF function editing formula in an Excel spreadsheet. METHODS: The four-step analysis was used to carry out programmatically through establishing acid-base balance disorder analysis process: (1) the acid and base types were determined according to pH value and the primary or main type of acid-base balance disorder was determined according to the pH value combined with blood carbon dioxide pressure (PaCO2), HCO3- and their change rate; (2) the expected compensation formula was selected to determine whether there was mixed acid-base imbalance, according to the primary or main acid-base imbalance type; (3) the potential HCO3- should be calculated to replace the measured HCO3- when the primary acid-base imbalance was divided into two parts according to the prior two steps: respiratory acidosis or respiratory alkalosis accompanied with anion gap (AG) increased-metabolic acidosis and compared with the compensatory interval calculated by the predicted compensatory formula for acid or alkali to determine whether there were triple acid-base imbalance (TABD); (4) while the following two parts were judged: metabolic acidosis accompanied with AG increased-metabolic acidosis according to the prior two steps, ΔAG↑/ΔHCO3-↓ should be calculated to determine whether there was metabolic alkalosis or metabolic acidosis with normal AG. The results of arterial blood gas analysis were judged by using the editing formula of IF function in Excel 2003 spreadsheet. A total of 96 patients admitted to the department of intensive care unit (ICU) of Xuzhou Central Hospital were enrolled. According to the results of arterial blood gas analysis, the type of acid-base imbalance of patients was judged by both artificial judgment (artificial group) and Excel spreadsheet automatic judgment (Excel spreadsheet group). The artificial group was composed by 2 associate chief physicians from neonatal intensive care unit (NICU) and 1 attending respiratory physician. If the results were inconsistent, the decision should be made after discussion. In the Excel spreadsheet group, data were input by one NICU attending physician and checked by another. The differences in the results and the time spent in judging the type of acid-base imbalance between the two groups were compared. RESULTS: Forty-two types of acid-base imbalance were obtained by using the four-step analysis method and inputting relevant parameters such as pH, PaCO2, actual HCO3-, Na+, Cl- and compensation time limited into the Excel spreadsheet for blood gas analysis. Data analyses of 96 patients showed that the accuracy of using Excel spreadsheets to automatically determine the type of acid-base imbalance was higher than artificial group, but there was no statistically significant difference between the two groups [normal and simple acid-base imbalance: 100% (26/26) vs. 100% (26/26), mixed acid-base imbalance: 100% (51/51) vs. 96.08% (49/51), TABD: 100% (19/19) vs. 89.47% (17/19), all P > 0.05], and it took less time to judge the results of blood gas analysis by the Excel spreadsheet group compared with the artificial group (s: normal and simple acid-base imbalance: 31.13±4.70 vs. 74.20±16.53, mixed acid-base imbalance: 31.59±5.49 vs. 138.10±22.26, TABD: 30.98±5.40 vs. 308.40±78.12, all P < 0.01). CONCLUSIONS: The automatic judging Excel spreadsheet with blood gas analysis can quickly and accurately determine the type of acid-base imbalance in arterial blood gas analysis.

Clinical significance of HDAC9 in hepatocellular carcinoma.

In recent years, most related studies have found that chronic hepatitis B virus infection is the main cause of hepatocellular carcinoma (HCC), but the specific pathogenesis is still unclear. To investigate the function of HDAC in hepatocellular carcinoma (HCC), this study used qRT-PCR to determine the expression levels of miR-376a and HDAC9 mNRA in HCC and para-cancerous tissues. The clinical significance of HDAC9 in HCC was assessed in a study cohort containing 37 patients with HCC using immunohistochemistry. The expression level of miR-376a in liver cancer tissues was significantly lower than that in para-cancerous tissues, while the expression level of HDAC9 mRNA in liver cancer tissue was significantly higher than that in para-cancerous tissues. The expression of HDAC9 occurred mainly in the nucleus. There was a significant correlation between tumor differentiation and HDAC9. Survival analysis showed that HCC patients with higher HDAC9 expression had poorer prognosis, and subsequent multivariate analysis showed that HDAC9 expression level was an independent predictor. There was a definite correlation between HDAC9 and the expressions of AFP and Ki67. These results suggest that the expression level of HDAC9 in HCC is abnormally high while the expression level of miR-376a is significantly decreased, indicating that HDAC9 may be a potential prognostic indicator of HCC.

Different ventilation modes combined with ambroxol in the treatment of respiratory distress syndrome in premature infants.

The aim of the present study was to compare the effectiveness of different modes of mechanical ventilation in combination with secretolytic therapy with ambroxol in premature infants with respiratory distress syndrome. Seventy-three premature infants with hyaline membrane disease (HMD) (stage III-IV), also known as respiratory distress syndrome, who were supported by mechanical ventilation in the neonatal intensive care unit (NICU) of Xuzhou Central Hospital, were involved in the present study, between January 2013 and February 2015. Forty cases were randomly selected and treated with high frequency oscillatory ventilation (HFOV), forming the HFOV group, whereas 33 cases were selected and treated with conventional mechanical ventilation (CMV), forming the CMV group. Patients in the two groups were administered ambroxol intravenously at a dosage rate of 30 mg/kg body weight at the beginning of the study. The present study involved monitoring the blood gas index as well as changes in the respiratory function index in the two groups. Additionally, the incidence of complications in the premature infants in the two groups was observed prior to and following the ventilation. Pulmonary arterial oxygen tension (PaO2), the PaO2/fraction of inspired oxygen (FiO2) ratio, the oxygenation index [OI = 100 × mean airway pressure (MAP) × FiO2/PaO2], as well as the arterial/alveolar oxygen partial pressure ratio (a/APO2) = PaO2/(713 × FiO2 partial pressure of carbon dioxide (PaCO2)/0.8) of the patients in the HFOV group after 1, 12 and 24 h of treatment were significantly improved as compared to the patients of the CMV group. However, there was no significant difference between patients in the two groups with regard to the number of mortalities, complications such as pneumothorax, bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), intraventricular hemorrhage (IVH), periventricular leukomalacia (PVL), and the time of ventilation. In conclusion, combining HFOV with ambroxol secretolytic therapy is a more viable option, as the combined treatment resulted in significant improvements in arterial blood gas levels, oxygenation and the respiratory function of lungs in preterm infants.

Clinical and microbiological profile of babies born with risk of neonatal sepsis.

The aim of the present study was to evaluate the effects of antibiotics on the condition of babies born with risk of neonatal sepsis. From March, 2014 to February, 2015, 200 neonates born with risk factors of septicemia in the Neonatal Intensive Care Unit at Xuzhou Central Hospital, were enrolled in the present study. Venous blood samples were collected within 6 h of birth using aseptic technique. Part of the blood specimens were cultured using BACTEC PEDS PLUS/F Culture Vials. Subsequently, the subcultures were prepared from each presumptive positive vial and bacterial isolates were identified. The remaining portion was used to measure the level of C-reactive protein (CRP) and total leukocyte count (TLC). The result showed that 32% of neonates were infected, of whom, 21.9% had Staphylococcus aureus, 21.9% had Acinetobacter Baumanni, and 12.5% had Klebsiella pneumoniae. Additionally, Staphylococcus epidermis, Enteroccus spp., Pseudomonas aeruginosa and E. coli was isolated from 9.4, 7.8, 6.3 and 4.7% of neonates, respectively. The neonates enrolled in the present study had ≥1 risk factor for neonatal sepsis, and the average number of risk factors was 1.95 per neonate. Neonates (39.1%) with positive blood culture results, had a CRP level >0.8 mg/dl, and 12.5% was shown to have an abnormal increase in their leukocyte counts. The association between leukocyte counts and blood culture results was not statistically significant. Of the neonates with positive blood cultures 45.3% died within 7 days after birth, while there was no mortality among those with negative culture results. The results indicate that in the presence of risk factors for sepsis, irrespective of clinical features of septicemia, neonatal sepsis screening should be performed. Rational and appropriate use of antibiotics may minimize the emergence of multidrug resistant bacteria in neonatal units.

Effect of Change of Mechanical Ventilation Position on the Treatment of Neonatal Respiratory Failure.

The aim of the study was to evaluate the effect of different ventilation positions in newborn infants with respiratory failure. A total of 67 newborn infant cases with respiratory failure were treated in neonatal intensive care unit of Xuzhou Central Hospital from February 2012 to August 2013. These infants were randomly divided into supine group (n = 33) and different position group (n = 34). Supine position for 4 h and prone position for 4 h were alternated in different position group. The results for 8 and 16 h ventilator parameters: oxygenation index OI (OI = PaO2/FiO2), the lung mechanics parameters, ventilator weaning time, arterial carbon dioxide partial pressure (PaCO2), and arterial oxygen tension (PaO2) after 1 h of ventilator weaning were recorded and compared. PaO2 in the different position ventilation groups for 8 h (65.29 ± 7.62 mm Hg) and 16 h (67.52 ± 9.31 mm Hg) were correspondingly higher than PaO2 at 8 h (60.13 ± 8.95 mm Hg) and 16 h (62.22 ± 10.83 mm Hg) in the supine position ventilation group, and the difference was statistically significant (P < 0.05), whereas OI at 8 h (166.95 ± 25.27 mm Hg) and 16 h (169.59 ± 20.28 mm Hg) in the former group was correspondingly higher than the OI at 8 h (150.16 ± 20.51 mm Hg) and 16 h (152.23 ± 22.45 mm Hg) in the latter group, and the difference was statistically significant (P < 0.05). The ventilator weaning time of the two groups and the change in the PaCO2 and PaO2, an hour after ventilator weaning was very similar and the difference was not statistically significant (P > 0.05). The symptoms of respiratory failure and oxygenation can be effectively improved in the newborn infants with different ventilation positions compared to traditional supine position.