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 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 in 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.

Colorectal cancer(CRC)is one of the most common malignant life-threatening tumors,with serious impacts on patient quality of life.Src homology 2 domain-containing protein tyrosine phosphatase(SHP2)has recently become a hot topic in the field of cancer research,and has demonstrated a close relationship with CRC.SHP2,encoded by the PTPN11 gene,is a non-receptor tyrosine kinase commonly present in various tissues and cells of the human body.Existing research shows that SHP2 plays a crucial role in regulating CRC and colitis-associated colon cancer(CAC),and the emergence of SHP2 allosteric inhibitors has identified SHP2 as a potential new therapeutic target for patients with CRC.Here we review the structure of SHP2 and its roles in CRC and CAC.

Objective:To compare the effectiveness of video laryngoscopy and traditional direct laryngoscopy in neonatal endotracheal intubation teaching.Methods:A total of 52 undergraduate clinical interns in the Department of Neonatology at the First Clinical School of Medicine of Zhengzhou University in June 2024 were selected.The participants were randomly divided into a video laryngoscopy group and a traditional direct laryngoscopy group.After the training，skill assessments were conducted.And a questionnaire was used to evaluate whether there were differences in terms of teaching arrangement, teaching methods, classroom interaction, and teachers' attitudes.Results:The skill assessment score of the video laryngoscope group was (72.85 ± 3.36) points, significantly higher than that of the direct laryngoscope group[(65.81 ± 2.80) points], with a statistically significant difference ( P<0.05). The glottis recognition rate in the video laryngoscope group (88.46%) was higher than that in the direct laryngoscope group (61.54%) ( P<0.05).The intubation success rate in the video laryngoscope group (69.23%) was also higher than that in the direct laryngoscope group (38.7%) ( P<0.05). The results of the teaching satisfaction survey questionnaire showed that the satisfaction ratio for teaching methods in the video laryngoscope group was higher than that in the direct laryngoscope group ( P<0.05), while there were no statistically significant differences between the two groups in terms of teaching arrangements, classroom interaction, assessment and evaluation methods, and teacher attitudes ( P>0.05). Conclusion:Using video laryngoscopy for teaching helps interns better master neonatal tracheal intubation skills and is worth promoting.

Objective:To explore the value of the neutrophil-to-lymphocyte ratio（NLR）in early prediction of retinopathy of prematurity（ROP）.Methods:The medical records of 325 preterm infants with a gestational age <32 weeks who were admitted to the Neonatology Department of the First Affiliated Hospital of Zhengzhou University from January 1,2019 to December 31,2019 were retrospectively reviewed.The complete blood cell results at 7-10 days of age were collected，including white blood cell，neutrophil，lymphocyte，monocyte，and platelet counts.The NLR，lymphocyte-to-monocyte ratio（LMR），and platelet-to-lymphocyte ratio（PLR）were calculated.Logistic regression analysis was used to assess the risk factors associated with ROP.The receiver operating characteristic curve was performed to evaluate the value of NLR in the early prediction of ROP.Results:A total of 325 infants were involved,including 110（33.8%）with ROP and 215（61.2%）without ROP.The gestational age，birth weight，platelet count，lymphocyte count，and LMR were significantly lower in the ROP group（ P<0.05），whereas the neutrophil count and NLR were found to be significantly higher（ P<0.05）.Multivariate Logistic regression analysis revealed that small gestational age，low birth weight,and high NLR were major risk factors for the development of ROP.The sensitivity and specificity of NLR in early predicting ROP were 90.1% and 74.4%，respectively. Conclusion:The NLR at the first week after birth can serve as a simple method for early prediction of the development of ROP.

Digestive system tumors account for more than half of all malignant tumors in terms of incidence and mortality,and thus pose a serious threat to human health.Haptoglobin(Hp)is an acute-phase glycoprotein that is elevated in both plasma and tumor tissues in various clinical conditions,including different types of cancer,such as liver,gastric,colorectal,pancreatic,and gallbladder cancer.Numerous studies have indicated that Hp plays a significant role in the prognosis of cancer patients,highlighting its potential as a prognostic marker for gastrointestinal tumors,with important clinical applications.Despite its demonstrated crucial role in the development of various tumors,however,the specific mechanisms of Hp in gastrointestinal tumors remain controversial.This review considers the differential expression and clinical significance of Hp in the five major types of gastrointestinal tumors,to explore its role in different stages of cancer progression and prognosis.This review thus aims to provide reliable and accurate serum biomarkers for the screening,early diagnosis,treatment,and prognosis monitoring of gastrointestinal tumors,with important implications for predicting the survival and prognosis of cancer patients.

Colorectal cancer(CRC)is one of the most common malignant life-threatening tumors,with serious impacts on patient quality of life.Src homology 2 domain-containing protein tyrosine phosphatase(SHP2)has recently become a hot topic in the field of cancer research,and has demonstrated a close relationship with CRC.SHP2,encoded by the PTPN11 gene,is a non-receptor tyrosine kinase commonly present in various tissues and cells of the human body.Existing research shows that SHP2 plays a crucial role in regulating CRC and colitis-associated colon cancer(CAC),and the emergence of SHP2 allosteric inhibitors has identified SHP2 as a potential new therapeutic target for patients with CRC.Here we review the structure of SHP2 and its roles in CRC and CAC.

Digestive system tumors account for more than half of all malignant tumors in terms of incidence and mortality,and thus pose a serious threat to human health.Haptoglobin(Hp)is an acute-phase glycoprotein that is elevated in both plasma and tumor tissues in various clinical conditions,including different types of cancer,such as liver,gastric,colorectal,pancreatic,and gallbladder cancer.Numerous studies have indicated that Hp plays a significant role in the prognosis of cancer patients,highlighting its potential as a prognostic marker for gastrointestinal tumors,with important clinical applications.Despite its demonstrated crucial role in the development of various tumors,however,the specific mechanisms of Hp in gastrointestinal tumors remain controversial.This review considers the differential expression and clinical significance of Hp in the five major types of gastrointestinal tumors,to explore its role in different stages of cancer progression and prognosis.This review thus aims to provide reliable and accurate serum biomarkers for the screening,early diagnosis,treatment,and prognosis monitoring of gastrointestinal tumors,with important implications for predicting the survival and prognosis of cancer patients.

Objective:To compare the effectiveness of video laryngoscopy and traditional direct laryngoscopy in neonatal endotracheal intubation teaching.Methods:A total of 52 undergraduate clinical interns in the Department of Neonatology at the First Clinical School of Medicine of Zhengzhou University in June 2024 were selected.The participants were randomly divided into a video laryngoscopy group and a traditional direct laryngoscopy group.After the training，skill assessments were conducted.And a questionnaire was used to evaluate whether there were differences in terms of teaching arrangement, teaching methods, classroom interaction, and teachers' attitudes.Results:The skill assessment score of the video laryngoscope group was (72.85 ± 3.36) points, significantly higher than that of the direct laryngoscope group[(65.81 ± 2.80) points], with a statistically significant difference ( P<0.05). The glottis recognition rate in the video laryngoscope group (88.46%) was higher than that in the direct laryngoscope group (61.54%) ( P<0.05).The intubation success rate in the video laryngoscope group (69.23%) was also higher than that in the direct laryngoscope group (38.7%) ( P<0.05). The results of the teaching satisfaction survey questionnaire showed that the satisfaction ratio for teaching methods in the video laryngoscope group was higher than that in the direct laryngoscope group ( P<0.05), while there were no statistically significant differences between the two groups in terms of teaching arrangements, classroom interaction, assessment and evaluation methods, and teacher attitudes ( P>0.05). Conclusion:Using video laryngoscopy for teaching helps interns better master neonatal tracheal intubation skills and is worth promoting.