OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038). RESULTS: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms. CONCLUSION O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.
Humans ; Female ; Infant, Newborn ; Male ; Mutation ; Hearing Loss, Sensorineural/genetics* ; Diarrhea, Infantile/genetics* ; Exome Sequencing ; Phenotype ; Fetal Growth Retardation ; Hair Diseases ; Facies

OBJECTIVE: To analyze the phenotype and genotype of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome (HDR). METHODS: A female neonate with HDR syndrome and thyroid deficiency detected at the First Affiliated Hospital of Zhengzhou University on December 6,2023 was selected as the study subject, Low-coverage whole-genome sequencing (Lc WGS) and whole exome sequencing (WES) were carried out. Using "hypoparathyroidism""sensorineural deafness""renal dysplasia""HDR""Barakat" and"GATA3" as keywords, the CNKI, Wanfang Data Knowledge Service Platform and PubMed database were searched, and the retrieval time was set from the establishment to March 2025. RESULTS: A proband, a full-term female infant, had presented with feeding difficulty, micrognathia, and low-set ears. Serological test revealed hypocalcemia, hyperphosphatemia, hypoparathyroidism, low T3, low T4 and high TSH. Hearing test revealed bilateral sensorineural deafness. Ultrasonic test revealed absence of right kidney and thyroid. WES revealed that the she has harbored a deletion of approximately 6.67 Mb at 10p15.1p13, and Lc WGS confirmed the presence of a 6.70 Mb deletion in the same region, which was verified as a de novo variant. Literature review suggested that HDR was rarely diagnosed among neonates. Among the nine cases diagnosed in neonatal period, 66.6% (6/9) exhibited the typical triad, 77.7% (7/9) had hypoparathyroidism with hypocalcemic convulsion as the initial symptom, 22.2% (2/9) had sensorineural hearing loss or renal malformation, and 66.6% (6/9) had multiple malformations including facial dysmorphism and congenital heart disease. 55.5% (5/9) had a large deletion in the 10p15 region, whilst 33.3% (3/9) had a single gene variant. The range of the deletion had correlated with the diversity of clinical phenotypes in HDR syndrome, but the classic triad of symptoms may presented in any combination, independent of deletion size. Association of HDR with thyroid deficiency has been unreported previously. CONCLUSION For neonates presenting with one of the symptoms of HDR triad or in combination with other malformations, genetic testing should be carried out.
Humans ; Hypoparathyroidism/diagnosis* ; Female ; Infant, Newborn ; Hearing Loss, Sensorineural/diagnosis* ; GATA3 Transcription Factor/genetics* ; Nephrosis/genetics* ; Phenotype ; Exome Sequencing

Objective:To construct a Chinese neonatal model of early-onset sepsis (EOS) using the Kaiser Permanente sepsis risk calculator and laboratory indicators and validate its clinical prediction potential.Methods:Newborns with a gestational age of ≥34 weeks, who were hospitalized in the Department of Neonatology, the First Affiliated Hospital of Zhengzhou University from January 2020 to June 2022 were retrospectively recruited.Their clinical data were collected.Predictors were screened via the multivariate regression analysis, and the Nomogram model was constructed using R software and RStudio software.Hosmer-Lemeshow test, receiver operating characteristic curve, the decision curve analysis (DCA) were used to evaluate the prediction potential of the Nomogram.Results:A total of 769 patients were enrolled, including 107 patients in the EOS group (5 culture-confirmed cases and 102 clinically diagnosed cases), and 662 cases in the non-EOS group.Ten variables were screened and introduced into the Nomogram, including the gestational age, birth weight, body temperature, white blood cell count, C-reactive protein, procalcitonin, premature rupture of membranes≥18 h, infection of Group B Streptococcus, ventilator application, and prenatal antibiotics.The predictive model showed good discrimination and consistency, with the area under the curve of 0.834 (95% CI: 0.771-0.896). The DCA of the prediction model showed that it was effective in clinical application within the effective threshold of 6%-95%, with a net benefit following the application of corresponding treatment measures. Conclusions:A Chinese neonatal model of EOS was created by using the Kaiser Permanente sepsis risk calculator and laboratory indicators, which has been validated effective.It provides references for clinical management and the guidance for the use of antibiotics.

A 10-day-old male infant presented with skin erythema and blisters for 6 days. Skin examination showed scattered or confluent erythema all over the body, tense blisters of varying sizes on the normal skin or an erythematous base, and some blisters were ulcerated and erosive; bloody bullae and erythematous erosive patches could be seen on the oral mucosa. Histopathological examination revealed subepidermal blisters, and there were some neutrophils and a few eosinophils in the blisters. Direct immunofluorescence assay showed homogeneous linear IgA and granular C3 deposits along the basement membrane zone, without IgG deposits. The diagnosis of neonatal linear IgA bullous dermatosis was confirmed. After comprehensive treatments including nutritional support and anti-infection treatment, skin erythema and blisters subsided, and the mucosal damage was attenuated. The telephone follow-up 16 months after discharge showed that the infant was in good general condition with normal growth and development, and the oral mucosal lesions had subsided and healed, without new skin lesions.

Objective:To summarize the clinical characteristics of neonatal brain abscess and improve the understanding of diagnosis and treatment of this disease.Methods:Clinical data of five cases of neonatal brain abscess admitted to the First Affiliated Hospital of Zhengzhou University from December 2018 to March 2021 were retrospectively analyzed and followed-up.Results:Among five cases, four cases were premature and one was term infant, three were girls and two were boys. The age of onset was 10, 5, 2, 28 and 11 days after birth, and all had fever as the first manifestation. Three cases had positive blood or cerebrospinal fluid cultures, and the diagnosis of brain abscess was confirmed by head imaging, with the most common lesion being in the frontal lobe. One case was treated conservatively, and four cases underwent abscess aspiration and drainage. After treatment, the range of lesions in five cases was reduced and the clinical symptoms were improved. The neurodevelopmental assessment after discharge did not reveal any intelligence or motor retardation in three cases, and were developing as the same age, while the other two cases had various degrees of neurological sequelae.Conclusion:The clinical characteristics of neonatal brain abscess are not specific, so it is necessary to conduct head imaging examination as early as possible for neonates with septicemia and meningitis with poor therapeutic effect or recurrent disease, so as to improve the early diagnosis rate and long-term prognosis.

Objective:To summarize the clinical features of neonatal lupus erythematosus(NLE) and improve the understanding of the disease.Methods:The clinical data of 17 NLE neonates admitted to the First Affiliated Hospital of Zhengzhou University from February 2015 to September 2021 were retrospectively analyzed, and relevant literatures were reviewed.Results:Of the 17 patients, nine were boys and eight were girls.There were 13 cases of skin damage and eight cases of heart damage, including four cases of atrioventricular block, one case of QT interval prolongation complicated with atrial premature beat, three cases of atrial septal defect, one case of ventricular septal defect, two cases of patent ductus arteriosus, one case of pericardial effusion, one case of pulmonary hypertension, and two cases of cardiac insufficiency.One case developed skin damage and heart block at the same time.There were 15 patients with blood system damage and 11 patients with hepatobiliary system damage.Among the serological indicators, 17 cases were positive for anti-ANA antibody, 12 cases were positive for anti-SSA-60, 13 cases were positive for anti-SSA-52, seven cases were positive for SSB, one case was positive for Sm, and three cases were positive for RNP.Among them, four neonates with atrioventricular block were positive for anti-SSA-60 and anti-SSA-52.Most of the patients with skin lesions had good prognosis, and only one patient had brown scars, one neonate with second-degree type Ⅱ atrioventricular block and one neonate with QT interval prolongation combined with premature atrial contractions had normal electrocardiograms.Additionally, two patients still had third-degree atrioventricular block, and the other one patient was installed with a pacemaker at one year and two months, and left spastic cerebral palsy.A total of 16 mothers had serological tests, among which ten cases had abnormal connective tissue antibodies before delivery and six cases had abnormal connective tissue antibodies after delivery.Conclusion:There is no significant gender difference in NLE, third-degree atrioventricular block is difficult to reverse, and most patients with extracardiac damage have a good prognosis.

In recent years, with the improvement of medical level, central catheter placement is widely used in newborns, especially in infants of very low birth weight and other critical newborns.It effectively reduces the damage of frequent venipuncture and stimulant drugs on blood vessels of children.However, the establishment of neonatal catheter access is closely related to mechanical injury, infection and thrombosis.The use of central catheters is the most common cause of thrombosis in newborns and infants.At present, there are few related reports, and there is no management standard for catheter-related thrombosis in China.This review analyzed the risk factors, diagnosis, prevention and treatment of neonatal catheter-related thrombosis.

Antenatal corticosteroid administration to women at risk of preterm delivery within 34 gestational weeks can effectively reduce the incidence of respiratory distress syndrome, intraventricular hemorrhage, and necrotizing enterocolitis in preterm infants. Due to concerns that antenatal corticosteroids may impair the development of the newborn's nervous system, there is a controversy regarding the use of antenatal corticosteroids in pregnant women ≥34 gestational weeks and those with complications. This article reviews the short- and long-term effects of antenatal corticosteroid administration on the nervous system of neonates born to women at different gestational ages and with comorbidities. More and higher-quality evidence is required for routine application of antenatal corticosteroids in pregnant women ≥34 gestational weeks.

Although great progress has been made in perinatal and neonatal medicine, the morbidity and mortality of premature complications remain high.At present, the prevention and treatment of preterm infants with broncho-pulmonary dysplasia, brain injury, necrotizing enterocolitis, retinopathy of prematurity and other complications are cha-llenging.Experimental evidences have shown that regenerative medicine based on mesenchymal stem cells is a promising therapeutic strategy for premature complications, although it has potential risks like tumorigenicity and immune rejection.Exosomes are the key mediators of mesenchymal stem cells, which have been a promising method for the treatment of premature complications.This study aims to review the research progress of exosomes derived from mesenchymal stem cells in the treatment of premature complications.

OBJECTIVE: To explore the genetic basis for an infant with neonatal diabetes (NDM) and multiple malformations. METHODS: Genetic variants were detected by next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing. RESULTS: A de novo heterozygous variant, c.1454_1455del(p.K485Rfs), was detected in exon 5 of the GATA6 gene. The variant was undetected in his parents and unreported previously. Bioinformatic analysis predicted the variant to be pathogenic. CONCLUSION The heterozygous variant of c.1454_1455del(p.K485Rfs) of the GATA6 gene probably underlies the disease in this child. Genetic testing can facilitate diagnosis and genetic counseling for NDM.
Abnormalities, Multiple ; Adult ; Diabetes Mellitus/genetics* ; Female ; Genetic Testing ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Male ; Sequence Deletion/genetics*