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

OBJECTIVEThe study was designed to evaluate adenovirus infection in hospitalized children with diarrhea.

METHODStool specimens were collected from 519 hospitalized children with diarrhea during 2010, including those defined as community-acquired diarrhea (CAD) who developed diarrhea symptoms within 48 hours after admission, and those defined as hospital-acquired diarrhea (HAD) whose symptoms of diarrhea occurred beyond 48 hours after admission. PCR was employed to identify adenovirus in fecal samples by using universal primers for adenoviruses of all types, and specific primers for adenovirus group F. PCR products with expected size were sequenced for adenovirus typing. Clinical data for children with adenovirus positive specimens were analyzed.

RESULTA total of 519 hospitalized children, including 289 with CAD and 230 with HAD, were enrolled in the study. Out of 519 stool specimens, 76 showed PCR products with expected 301 bp and identified as adenovirus by sequencing, and the overall positive rate was 14.6%. Out of 289 CAD samples, 43 were positive (positive rate was 14.9%). Of them, 20 were identified as enteric adenovirus infection (adenovirus type 41, Ad41). Thirty-three out of 230 HAD samples were positive (positive rate was 14.3%). Of them, 13 were characterized as enteric adenovirus infection (one was Ad40 and others were Ad41). Ad41 in this study could be divided into two genotypes by phylogenetic tree analysis. Non-enteric adenoviruses were identified in 43 specimens (43/76, 56.6%) including 5 of serotype 1, 8 of serotype 2, 15 of serotype 3, 10 of serotype 7, 1 of serotype 12, and 4 of serotype 31. In this study, the positive rate of adenovirus between CAD children and HAD children did not differ (χ(2) = 0.03, P > 0.05), while the positive rate of enteric adenovirus was high in CAD children.

CONCLUSIONAdenovirus infection was the main cause of diarrhea in hospitalized children. In this study, the positive rate of adenovirus was similar between children with CAD and with HAD. Enteric adenovirus (adenovirus group F) was the most common adenovirus serotype detected in 2010 in Beijing, and Ad41 was the dominant type.

Adenoviridae ; classification ; genetics ; isolation & purification ; Adenoviridae Infections ; epidemiology ; Age Distribution ; Child, Hospitalized ; Child, Preschool ; China ; epidemiology ; DNA, Viral ; analysis ; Diarrhea ; epidemiology ; virology ; Diarrhea, Infantile ; epidemiology ; virology ; Feces ; virology ; Female ; Humans ; Infant ; Male ; Polymerase Chain Reaction ; Sex Distribution

From November 2008 to January 2009, a sharp increase of diarrhea in children in Guangdong province appeared, we randomly collected 53 stool specimens from out-patient children with dirrhea in 3 major hospitals (Guangzhou City Children's Hospital, Shenzhen Baoan District Maternal and Child Health Hospital, First Affiliated Hospital of Shantou University). Rotavirus and calicivirus were screened by ELISA and RT-PCR. We found 29 cases of rotavirus infection with diverse serotypes. Only four cases were identified as calicivirus infection. The result indicated that rotavirus was a major pathogen of this high incidence of diarrhea from November 2008 to January 2009 in Guangdong Province.
Age Distribution ; Child, Preschool ; China ; epidemiology ; Diarrhea ; diagnosis ; epidemiology ; virology ; Diarrhea, Infantile ; diagnosis ; epidemiology ; virology ; Feces ; virology ; Humans ; Incidence ; Infant ; Reverse Transcriptase Polymerase Chain Reaction ; Rotavirus ; classification ; genetics ; isolation & purification ; Rotavirus Infections ; diagnosis ; epidemiology ; virology ; Serotyping

OBJECTIVEGastroenteritis is a major cause of childhood morbidity and mortality worldwide. Adenovirus AdV is recognized to be one of the most important pathogens associated with severe dehydrating gastroenteritis. Studies reported elsewhere have shown that about 8%-10% of cases with infantile diarrhea are caused by AdV and in some areas AdV diarrhea even occurred in the form of outbreaks. Studies have confirmed that AdV infections are also very common in infants and young children in China. This study aimed to investigate the molecular epidemiologic characteristics of human adenovirus diarrhea among infants and children with acute diarrhea in Lanzhou, Gansu province, China.

METHODStool specimen and case information were collected from both outpatients and inpatients with acute diarrhea in Lanzhou. Polymerase chain reaction was used to detect AdV in stool specimens. The subjects included 709 urban children and 180 rural children, their age ranged from 19 d to 60 months.

RESULTOf the 889 cases, 43 (4.8%) were found positive for AdV. AdV was detected in 14 of 257 (5.4%) cases seen from July 2005 to June 2006, in 4 of 286 cases (1.4%) seen from July 2006 to June 2007. During the period of July 2007 to June 2008, adenovirus was detected in 346 specimens, the positive rate was 7.2% (25/346). AdV detection rates of the three-year period were significantly different. The major AdV subtypes detected were adenovirus (subgenus F) Ad40, Ad41 with a positive rate of 3.8% (34/889), followed by non-enteric adenovirus (Ad12, Ad18, Ad31, Ad2, Ad5, Ad6, Ad7) with a positive rate of 1.0% (9/889) in Lanzhou during the 3 years. Most of the AdV-positive specimens showed Ad41 group F (67.4%, 29/43) as the major epidemic strains, and Ade infection mainly occurred in children under one year of age and no seasonal cluster was found.

CONCLUSIONAdenovirus was one of the major etiological agent of viral diarrhea among infants and children in Lanzhou between 2005 and 2008. Ad41 was the prodomiment serotype.

Adenovirus Infections, Human ; epidemiology ; Adenoviruses, Human ; genetics ; China ; epidemiology ; Diarrhea, Infantile ; epidemiology ; virology ; Feces ; virology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Molecular Epidemiology

OBJECTIVETo investigate the epidemiological features of human calicivirus( HuCV) infection in children with diarrhea in a hospital in Guangzhou.

METHODSStool specimens were collected from children with viral diarrhea diagnosed between October, 2003 and January, 2004 and between October, 2004 and January, 2005. HuCV was detected by means of RT-PCR and sequence analysis of the PCR products.

RESULTSEighty specimens positive for Norwalk-like viruses (NLVs) were identified from 648 stool specimens, with a positivity rate of 12.35%, and sapporo-like viruses (SLVs) were identified in 2 specimens (0.31%). The monthly NLV positivity rate was 11.74% (Oct.), 14.16% (Nov.), 9. 09% (Dec.) and 13.95% (Jan.), respectively, showing no significant variation in these months. NLVs mainly infected children below 2 years old. Twenty-two strains of NLVs were sequenced and analyzed, and 21 of them were identified as GII and the genotype of 1 strain could not be determined. The prevalent viral population were GII-3 and GII-4 in 2003 and was GII-4 in 2004, and both of the SLVs belong to GI-1.

CONCLUSIONNLVs is one of the important pathogens causing sporadic acute gastroenteritis in children admitted in the hospital in Guangzhou, and the prevalent strains are GII-3 and GII-4 , but different prevalent strains are possible in different periods.

Caliciviridae ; classification ; genetics ; isolation & purification ; Caliciviridae Infections ; epidemiology ; virology ; Child, Preschool ; China ; epidemiology ; Diarrhea ; epidemiology ; virology ; Diarrhea, Infantile ; epidemiology ; virology ; Feces ; virology ; Female ; Genotype ; Hospitals ; statistics & numerical data ; Humans ; Infant ; Male ; Molecular Epidemiology ; methods ; Molecular Sequence Data ; Norwalk virus ; genetics ; isolation & purification ; Phylogeny ; Prevalence ; RNA, Viral ; genetics ; Seasons ; Sequence Analysis, DNA

OBJECTIVETo investigate molecular epidemiologic features of rotavirus (RV) infection in infantile diarrhea in Hangzhou area.

METHODSStool specimens of 683 infants with suspected acute viral enteritis in the autumn and winter of 2001 - 2003 were collected. RV (group A) was detected by using latex agglutination test (LAT). VP7 serotype (G) positive specimens were detected by using enzyme linked immunosorbent assay (ELISA) and then the RNA of the virus was determined with reverse transcription polymerase chain reaction (RT-PCR). cDNA of VP7 gene fragment was sequenced by automatic gene analyzor (ABI3730) and compared with the RV VP7 gene sequences stored in Genebank.

RESULTSRV was detected in 297 of 683 (43.5%) specimens by LAT. The highest frequency of RV (group A) detected was 52.9% (228/431) in patients aged 7 - 18 months. The prevalent serotypes were G1 (36.7%, 109/297) and G3 (30.9%, 92/297), followed by mixed type (11.8%, 35/297), untyped (9.4%, 28/297), G4 (7.1%, 21/297) and G2 (4.0%, 12/297). The prevalent serotypes seen each year were different. G1 (54.9%, 45/82) was the major serotype in 2001 followed by G3 (14.6%, 12/82). In 2003, the major serotype was G3 (43.0%, 63/146) and followed by G1 (29.5%, 43/146). The reliability of ELISA was confirmed by RT-PCR, gene sequencing and homology analysis.

CONCLUSIONThe main prevalent serotypes of VP7 of rotavirus were G1 and G3. The dominant serotypes of rotavirus varied in Hangzhou area from 2001 to 2003.

Antigens, Viral ; classification ; genetics ; metabolism ; Capsid Proteins ; classification ; genetics ; metabolism ; Child, Preschool ; China ; epidemiology ; Diarrhea, Infantile ; epidemiology ; virology ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Infant ; Latex Fixation Tests ; Male ; Molecular Sequence Data ; Prevalence ; Reproducibility of Results ; Reverse Transcriptase Polymerase Chain Reaction ; Rotavirus ; classification ; genetics ; Rotavirus Infections ; complications ; epidemiology ; virology ; Serotyping

OBJECTIVETo understand the characteristics of human calicivirus (HuCV) infection in infants with diarrhea in Guangzhou city and to study genotype of the virus.

METHODSThe authors collected fecal specimens from 22 children with acute nonbacterial gastroenteritis from November to December, 2001. HuCV was detected from the specimens by RT-PCR. The PCR products were cloned into the PMD18-T cloning vector and sequenced.

RESULTSHCV was detected from the specimens of 2 cases (9%, 2/22). The nucleotide sequence analysis revealed that the virus strains belonged to genotype 2 of Norwalk-like viruses.

CONCLUSIONHuCV is one of the pathogens causing diarrhea in infants and young children in Guangzhou area. HuCV infection occurred sporadically in autumn and winter.

Base Sequence ; Caliciviridae ; genetics ; Caliciviridae Infections ; complications ; virology ; China ; DNA, Viral ; chemistry ; genetics ; Diarrhea, Infantile ; etiology ; Dysentery ; etiology ; Feces ; virology ; Genotype ; Humans ; Infant ; Molecular Sequence Data ; Phylogeny ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA ; Sequence Homology, Nucleic Acid

OBJECTIVETo compare the difference of VP7 fragment at the nucleotide level between rotavirus Guangzhou field strain R97-196 and rotavirus Beijing field strain or prototype strains.

METHODSThe VP7 fragment amplified from Guangzhou field strain R97-196 by RT-PCR was cloned into the T-A cloning vector pUCm-T and sequenced.

RESULTSThe VP7 fragment from Guangzhou field strain R97-196 was 1,062 bp in length and contained two open reading frames which is consistent with that reported in the literature. The sequence analysis revealed that the cDNA from R97-196 shared higher nucleotide and amino acid identities with Beijing field strain T73 (98% and %, respectively) than with serotype 2-4 (G types) rotavirus (from 74% to 77% and 73% to 81%, respectively). The divergence of amino acid sequences is mainly within the nine divergence regions. The phylogenetic analysis revealed that the VP7 fragment from R97-196 was far away from rotavirus serotype G1 strain Wa.

CONCLUSIONSThe VP7 gene fragment from rotavirus Guangzhou field strain R97-196 belongs to rotavirus serotype G1. And variation of rotavirus VP7 gene fragment seems to be a geographic matter.

Amino Acid Sequence ; Antigens, Viral ; Capsid Proteins ; genetics ; Diarrhea, Infantile ; virology ; Humans ; Infant ; Molecular Sequence Data ; Phylogeny ; Reverse Transcriptase Polymerase Chain Reaction ; Rotavirus ; classification ; isolation & purification ; Rotavirus Infections ; virology ; Sequence Analysis ; Serotyping