OBJECTIVE An understanding of the complex anatomy of the anterior skull base is crucial for the surgeon doing endoscopic surgery. The anatomic data of the olfactory sulcus and adjacent structures in Chinese patients were defined using 3-dimensional reconstruction images. The surgeon is encouraged to develop a detailed pre-operative surgical plan by utilizing these dynamic anatomical observations to avoid intracranial injury. METHODS The paranasal sinus CT scanning images of 100 adults were reconstructed for observation using EBW2.0 software and multiplanar reformation. All data obtained were in the coronal plane from the anterior point of the olfactory sulcus. The cribriform plate depth as compared to the ethmoid roof and adjacent structures, was measured bilaterally. Data obtained on adjacent structures include the vertical height of the lateral lamella of olfactory sulcus, the horizontal distance between the cribriform plate and the orbital lamella, the length of the middle turbinate, the height of the orbit, and the vertical distance between the cribriform plate and the nasal floor. RESULTS The olfactory sulcus was classified into three types: platform type (60 %), sloping type (17 %) and mixed type(23 %), as distinguished from Keros classification. In this study the vertical height of the lateral lamella of olfactory sulcus was (5.03 ± 0.17) mm (R) and (5.39 ± 0.19) mm (L) in platform type, and (2.79 ± 0.49) mm (R) and (4.72 ± 0.49) mm (L) in the mixed type. There were statistically significant differences between the right side and the left side in these two types (P＜0.01). The horizontal distance between the cribriform plate and the orbital lamella on the same side was significantly different between the platform type and the mixed type of olfactory sulcus. A similar result was observed for the vertical distance between the cribriform plate and the nasal floor. Gender differences exist in the horizontal distance between the cribriform plate and orbital lamella on the same side and the vertical distance between the cribriform plate and the nasal floor. CONCLUSION Different types of olfactory sulcus have distinct characteristics, hence care which must be taken into account when doing endoscopic surgery.

OBJECTIVE: To explore the genetic basis for a child affected with Bainbridge-Ropers syndrome. METHODS: Genomic DNA was extracted from peripheral venous blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out to detect genetic variant of the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The 3-year-old boy presented with psychomotor retardation, linguistic difficulties, mental retardation and peculiar craniofacial phenotype. A de novo heterozygous nonsense variant of the ASXL3 gene, c.3106C>T, was identified by WES in the proband, and the same mutation was not found among his parents. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.3106C>T variant was predicted to be pathogenic (PVS1+PS2+PP4). CONCLUSION The heterozygous variant c.3106C>T of the ASXL3 gene probably underlies the Bainbridge-Ropers syndrome in the patient. Above result has enabled the clinical diagnosis and genetic counseling for the family.
Child ; Child, Preschool ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Male ; Mutation ; Phenotype ; Transcription Factors/genetics* ; Whole Exome Sequencing

OBJECTIVE: To explore the clinical and genetic characteristics of a child with X-linked hypohidrotic ectodermal dysplasia (XLHED). METHODS: Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents with informed consent and subjected to copy number variation (CNV) analysis and whole exome sequencing (WES). RESULTS: The male infant manifested sparse hair, anhidrosis, anuresis due to polycystic kidney dysplasia, external genital malformation and anal atresia. WES has revealed a 406 bp hemizygous deletion at Xq13 (68 836 147-68 836 553) in the proband, which encompassed exon 1 of the EDA gene. A heterozygous deletion at the same site was detected in the mother, while no deletion or duplication of the site was detected in the father. CONCLUSION The hemizygous deletion of EDA gene exon 1 probably underlay the ectodermal dysplasia in the proband. Above result has provided a basis for genetic counseling and prenatal diagnosis for the family.
Child ; DNA Copy Number Variations ; Ectodermal Dysplasia/genetics* ; Ectodermal Dysplasia 1, Anhidrotic/genetics* ; Ectodysplasins/genetics* ; Genetic Testing ; Humans ; Infant ; Male ; Pedigree

OBJECTIVE: To study the anatomical character of the ethmoid sinus with spiral CT, and provide correlated data for diagnosis and surgery operation. METHOD: One hundred patients whose vertebra artery was injected with Angiografin underwent axial consecutive computed tomography and these data were studied with multiplanar reformation. RESULT: Based on the relation of posterior ethmoid sinus to sphenoid sinus, the posterior ethmoid sinus was divided into antero sphenoid types and super sphenoid types. According to the relation between the posterior ethmoid and the optic canal, the posterior ethmoid sinus was divided into antero canal, seminal abut types, canal abut types. According to the degree of the bulging of the optic canal, the posterior ethmoid sinus was divided into notch types, seminal cover types, canal cover types. Bulging of the optic canal formed on the lateral wall of the posterior ethmoid sinus was 40 sides (20%). CONCLUSION MPR in spiral CT is powerful tool for the anatomical study of the ethmoid sinus, it could provide accuracy evaluation and analyzation, these results are helpful in directing the diagnose and therapy.
Adult ; Aged ; Asian Continental Ancestry Group ; Ethmoid Sinus ; diagnostic imaging ; Female ; Humans ; Male ; Middle Aged ; Sphenoid Sinus ; diagnostic imaging ; Tomography, Spiral Computed

Objective: To investigate the clinical features, imaging features, pathological features and gene diagnosis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Methods: Clinical manifestations, signs and imaging characteristics of a female patient hospitalized in the First Affiliated Hospital of Zhengzhou University for more than 10 days due to headache were analyzed, and skin biopsy and HTRA1 and Notch3 gene detection were performed. The pedigree of the proband was investigated in detail, and HTRA1 gene test and related imaging examination were conducted in parallel. Due to the deceased parents of the patient, relevant genetic testing could not be conducted. A control group of 100 healthy people were analyzed. Results: The clinical manifestations of proband were headache after insomnia, hearing loss in the right ear, easy to wake up and sweat at night. Brain MRI showed diffuse patchy long T₁ and long T₂ signals in bilateral fronto-parietal temporal occipital insula, internal and external capsule areas, bilateral basal ganglia areas, and bilateral thalamus. Fluid attenuated inversion recovery sequence showed high signals. Magnetic sensitive weighted imaging showed scattered patchy low signals in bilateral cerebral and cerebellar hemispheres, bilateral basal ganglia area, left thalamus and brain stem. The proband had consanguineous parents. A homozygous mutation C to T transition at position 589 (c.589C>T) was found in exon 3 of HTRA1 gene with the proband and both siblings. The heterozygous c.589C>T mutation appeared in another sister of the proband. Under the light microscope of skin biopsy, pigmentation in the basal layer of the skin could be seen, collagen fiber hyperplasia in the dermis was accompanied by a small amount of inflammatory cell infiltration, and no definite amyloidosis was found. No mutations were found in Notch3 gene. Because the patient′s parents were deceased, genetic testing was not possible. One hundred healthy controls had no such mutation. Conclusions The CARASIL family with HTRA1 gene c.589C>T homozygous mutation was reported, and the pathogenicity of the mutation was confirmed. HTRA1 genetic testing is recommended for diagnosis and differential diagnosis of CARASIL with family history or clinical suspicion.

Objective To study the correlation between multiple comet tail sign and the early abdominal visceral injury and explore the clinical application of the multiple comet tail sign in prompting the early abdominal visceral injury in an oleic acid animal model.Methods The experimental animals were divided into an experimental group and a control group.The sonograms of the lungs,livers and kidneys of control group were collected,and then the rabbits were executed.The animals of experimental group were made into multiple comet tail sign models.The thorax sonogram of successful model showed at least one lung area with varying degrees of multiple comet tail sign.Collect the sonograms of lungs,livers and kidneys were collected,and then the rabbits were executed.The two groups of rabbits were dissected,and the lungs,livers,kidneys,and spleens were removed to make the tissue sections.The gross pathologic findings and microscopic histological changes of the two groups were observed and noted.The ultrasound scores of chest sonograms were recorded:short comet tail sign for 1 point,isolated comet tail sign for 2 points,mild multiple comet tail sign for 3 points,moderate multiple comet tail sign for 4 points,and falls sign (severe multiple comet tail sign) for 5 points.The degree of organ injury was assessed by the percentage of pathologic injury area under microscope,and the correlation between the multiple comet tail sign and abdominal organ injary was analyzed.Results The successful rate of multiple comet tail sign model in experimental group was 100％.The sonograms of liver and kidney have no significant change after the experiment.The incidence of positive pathologic changes in experimental group was 100％ (11/11).The gross pathologic findings of lung were complete shape with dark red hemorrhagic area at surface;the microscopic pathologic findings were pulmonary edema (11/11,100％) and pulmonary hemorrhage (9/11,81.8％).The incidence of positive pathologic changes in the liver of experimental group was 45.5％ (5/11).The gross pathologic findings of liver were complete shape with reddish brown surface and flexible texture;the microscopic pathologic findings were cellular swelling of hepatocytes (5/11,45.5％).The incidence of positive pathologic changes in the kidneys of experimental group was 18.2％ (2/11).The gross pathology had no obvious changes,and the microscopic pathologic findings were cellular swelling of renal tubular epithelial cells (2/11,18.2％).Results showed that the lung ultrasound scores of rabbits with liver injury were obviously higher than those of rabbits with no liver injury,and there was significant differences (Z=-2.529,P=0.011).There was a statistically significant positive correlation between the lung ultrasound scores of rabbits with liver injury and the microscopic pathologic area of liver lesion (r=0.893,P=0.041),and the higher the lung ultrasound score,the more severity of the liver injury.Conclusions The appearance of multiple comet tail sign is earlier than the sonogram changes of liver and kidney.The most sensitive pathologic changes of abdominal organ appear in liver,followed by kidney.The scope and extent of the multiple comet tail sign can prompt the early injury in liver and kidney.

Objective: The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed. Methods: Next generation sequencing (NGS) was applied to all the probands. PCR and Sanger sequencing were used to verify the suspicious gene variants screened by NGS in the probands and their family members, and one of the family got prenatal diagnosis. Results: Through NGS, PCR and Sanger sequencing, the 5-yr proband in pedigree 1 was shown to carry compound heterozygous variants of c. 5935G>A(p.G1979R) and c. 5428G>T(p.E1810X) of PKHD1, originated from his parents; In pedigree 2, the 17-ys proband was detected with c. 5512T>C(p.Y1838H) and c. 5935G>A(p.G1979R) variants of PKHD1 orginated from her parents, and her mother also got prenatal diagnosis during the second trimester; In pedigree 3, the 70-ys female proband was found with variants c. 11314C>T (p.R3772X) and c. 3860T>G (p.V1287G) of PKHD1. Conclusion The three pedigrees were diagnosed as ARPKD caused by PKHD1 variants. Five types of variants were detected, c. 5935G>A and c. 11314C>T were the known pathogenic variants, while c. 5512T>C, c. 5428G>T and c. 3860T>G were not reported previously. Considering the complexity of the genetics and phenotypes of the cystic renal diseases, genetic diagnosis is crucial to give accurate etiological diagnosis, which may benefit the clinic management.

OBJECTIVE: To detect potential mutation in a Chinese pedigree affected with split hand/split foot malformation (SHFM). METHODS: The patients were screened for genome-wide copy number variations with single nucleotide polymorphism (SNP) microarray. Copy number variations were verified by real-time fluorescence quantitative PCR. RESULTS: There were 3 SHFM patients from three generations, which conformed to an autosomal dominant inheritance. SNP microarray assay revealed that all patients have carried a 0.34 Mb duplication in 10q24.31-q24.32 (102 993 649-103 333 271) encompassing the BTRC and DPCD genes. The result was verified by real-time fluorescence quantitative PCR, confirming that the duplication has co-segregated with the SHFM phenotype in the pedigree. CONCLUSION The 10q24.31-q24.32 duplication probably underlies the pathogenesis of SHFM in this pedigree. Tiny copy number variations can result in diseases featuring autosomal dominant inheritance.
Asian Continental Ancestry Group ; China ; Chromosome Duplication ; Chromosomes, Human, Pair 10 ; genetics ; DNA Copy Number Variations ; Foot Deformities, Congenital ; genetics ; Hand Deformities, Congenital ; genetics ; Humans ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide

Objective To investigate the clinical features, imaging features, pathological features and gene diagnosis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Methods Clinical manifestations, signs and imaging characteristics of a female patient hospitalized in the First Affiliated Hospital of Zhengzhou University for more than 10 days due to headache were analyzed, and skin biopsy and HTRA1 and Notch3 gene detection were performed. The pedigree of the proband was investigated in detail, and HTRA1 gene test and related imaging examination were conducted in parallel. Due to the deceased parents of the patient, relevant genetic testing could not be conducted. A control group of 100 healthy people were analyzed. Results The clinical manifestations of proband were headache after insomnia, hearing loss in the right ear, easy to wake up and sweat at night. Brain MRI showed diffuse patchy long T1 and long T2 signals in bilateral fronto?parietal temporal occipital insula, internal and external capsule areas, bilateral basal ganglia areas, and bilateral thalamus. Fluid attenuated inversion recovery sequence showed high signals. Magnetic sensitive weighted imaging showed scattered patchy low signals in bilateral cerebral and cerebellar hemispheres, bilateral basal ganglia area, left thalamus and brain stem. The proband had consanguineous parents. A homozygous mutation C to T transition at position 589 (c.589C>T) was found in exon 3 of HTRA1 gene with the proband and both siblings. The heterozygous c.589C>T mutation appeared in another sister of the proband. Under the light microscope of skin biopsy, pigmentation in the basal layer of the skin could be seen, collagen fiber hyperplasia in the dermis was accompanied by a small amount of inflammatory cell infiltration, and no definite amyloidosis was found. No mutations were found in Notch3 gene. Because the patient′s parents were deceased, genetic testing was not possible. One hundred healthy controls had no such mutation. Conclusions The CARASIL family with HTRA1 gene c.589C>T homozygous mutation was reported, and the pathogenicity of the mutation was confirmed. HTRA1 genetic testing is recommended for diagnosis and differential diagnosis of CARASIL with family history or clinical suspicion.

Objective To investigate the exposure level of radioactive hazard factors and the health management of radiation workers in non-medical radiation institutions (excluding military institutions) in Jinan, China through radioactive hazard factor monitoring, to identify the weak links, and to provide a scientific basis for future work priorities. Methods According to the monitoring plan formulated by Jinan Municipal Health Commission, the task undertaking institutions at all levels in Jinan investigated the types of radioactive hazard factors, detection, training, and health monitoring of 101 non-medical radiation institutions in Jinan. In addition, the workplace radiation levels were detected in 25 institutions of 6 types of monitoring objects, including industrial flaw detection, non-medical accelerator, non-sealed radioactive material workplace, nuclear instrument, baggage detector, and others. Results The investigation objects included institutions engaged in industrial flaw detection, nuclear instrument, luggage detector, non-medical accelerator, non-sealed source workplace, and others. Of these institutions, 91.84% were equipped with radiation protection detectors, 92.86% were equipped with personal dose alarm, 97.73% were equipped with personal protective equipment, 94.36% performed radiation protection training, 92.69% employed radiation workers with certificates, 95.77% performed personal dose detection, 94.83% performed occupational health examination, and 100.00% were qualified for radiation protection detection in workplace. Conclusion There is still a gap between the radiation protection status of non-medical institutions in Jinan and the national regulations and standards, so it is necessary to further strengthen supervision and law enforcement and make greater efforts in training and publicity.