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OBJECTIVE@#To explore the genetic basis for a fetus with Cardiac valvular dysplasia type 1 (CVDP1).@*METHODS@#A CVDP1 fetus identified at the Ningbo Women and Children's Hospital on July 7, 2022 was selected as the study subject. Clinical data of the fetus was collected. The fetus and its parents were subjected to trio-whole exome sequencing (trio-WES), and candidate variants were verified by Sanger sequencing.@*RESULTS@#The fetus had exhibited generalized edema, complex cardiac malformation, abdominal effusion, and enhanced intestinal and renal parenchymal echoes. Trio-WES revealed that it has harbored compound heterozygous variants of the PLD1 gene, namely c.2977C>T (p.R993*) and c.1460G>A (p.W487*), which were respectively inherited from its father and mother. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.2977C>T (p.R993*) variant was evaluated to be likely pathogenic (PVS1_Moderate+PM2_Supporting+PM3+PP4), whilst the c.1460G>A (p.W487*) variant was evaluated to be pathogenic (PVS1+PM2_Supporting+PP4).@*CONCLUSION@#The c.2977C>T (p.R993*) and c.1460G>A (p.W487*) compound heterozygous variants of the PLD1 gene probably underlay the CVDP1 in the fetus. Above discovery has enriched the mutational spectrum of the PLD1 gene and provided a guidance for genetic counseling and prenatal diagnosis in this family.
Assuntos
Criança , Gravidez , Humanos , Feminino , Feto , Aconselhamento Genético , Genômica , Rim , Mutação , FenótipoRESUMO
Objective To observe the value of multi-slice spiral CT(MSCT)post-processing technologies for diagnosing otosclerosis.Methods Clinical data and original axial plain MSCT of 47 patients with otosclerosis(92 ears)and 65 patients with non-otosclerosis hearing impairment(79 ears)were retrospectively enrolled.MSCT post-processing images,including multi-planar reformation(MPR)of stapes and cochleas and curved planar reformation(CPR)of ossicular chains were obtained.The diagnostic value of original MSCT images alone and raw data of MSCT combing with post-processing images for diagnosing otosclerosis were compared.Results Otosclerosis was correctly diagnosed in 66 ears according to original MSCT images alone,but in 89 ears combined with MSCT post-processing images.The sensitivity of original MSCT images alone and combined with MSCT post-processing images was 71.74%and 96.74%,respectively,and the diagnostic accuracy was 81.29%and 96.49%,respectively,those of the latter were both higher than of the former(both P<0.05),which had specificities being not significantly different(92.41%vs.96.20%,P>0.05).Conclusion Combining with post-processing technologies could increase the sensitivity and accuracy of MSCT for diagnosing otosclerosis.
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Objective To investigate the metabolic changes and significance of serum biochemical indexes in obese children.Methods A total of 70 children diagnosed with obesity were included in obese group at Ningbo Women and Children's Hospital from January to October 2022.Additionally,55 healthy children were selected as control group.5ml of fasting venous blood was collected from each participant,and after centrifugation for serum separation,laboratory biochemical tests on liver and kidney function were conducted.The tested parameters included albumin(ALB),alkaline phosphatase(ALP),alanine aminotransferase(ALT),aspartate aminotransferase(AST),blood urea nitrogen(BUN),creatinine(CRE),direct bilirubin(DBIL),glutamyltransferase(GGT),globulin(GLO),high density lipoprotein(HDL),indirect bilirubin(IBIL),low density lipoprotein(LDL),total bilirubin(TBIL),total cholesterol(TCH),triglycerides(TG),total protein(TP),uric acid(UA),and the ratios of albumin/globulin(A/G),AST/ALT,and BUN/CRE.Results The children in obese group,serum levels of ALB,ALP,ALT,AST,CRE,GGT,LDL,TCH,TG,TP,and UA were higer than those of chidren in control group,while AST/ALT,BUN/CRE,and HDL were lower than those of chidren in control group,with statistically significant differences(P<0.05).A/G,BUN,DBIL,GLO,IBIL,and TBIL showed no statistically significant differences(P>0.05).Principal component analysis and partial least squares discriminant analysis models distinctly distinguished children in obese group from control group,with AST/ALT,UA,and ALT contributing the most to the discrimination.Body mass index showed a negative correlation with AST/ALT(r=-0.327,P<0.05)and a significant positive correlation with UA levels(r=0.410,P<0.01).Conclusion Obese children exhibit significant impairment in liver and kidney function and significant metabolic differences compared to healthy children,with AST/ALT and UA being the most significant indicators of difference.
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Objective To explore the value of HRCT and contrast-enhanced MRI in diagosis of facial nerve injuries.Methods HRCT and contrast-enhanced MRI were performed in 18 cases of facial nerve injuries.CPR of the facial nerve and canal was performed on the Philips EBW workstation,and the temporal bone involved location,fracture type and involvement of facial nerve and canal and its course were observed.The involved location,size,signal variation of facial nerve were analyzed compared with contralateral side on the GE AW 4.5 workstation.Results Among 18 cases,8 cases of longitudinal fractures,5 cases of transverse fractures and 5 cases of mixed fractures were found.HRCT axial scan and CPR of facial canal revealed that 18 cases had temporal bone fractures,including 1 case of labyrinthine segment,2 cases of geniculate fossa,4 cases of tympanic segment,2 cases of geniculate fossa,tympanic segment and hematoma of middle ear cavity,3 cases of tympanic segment with adjacent hematoma of middle ear cavity and 6 cases without obvious fracture of facial canal.Contrast-enhanced MRI and CPR of facial nerve revealed facial nerve injuries in all 18 cases,including 12 cases of internal auditory meatus segment,14 cases of labyrinthine segment,18 cases of geniculate ganglion,16 cases of tympanic segment and 15 cases of mastoid segment.Signal intensity ratio of affected internal auditory meatus segment,labyrinthine segment,geniculate ganglion,tympanic segment and mastoid segment were higher than those of contralateral side (all P< 0.001).Conclusion HRCT and contrast-enhanced MRI can clearly reveal the involvement of different segment of traumatic facial nerve,HRCT CPR and MR CPR are helpful to visualiz the involvement of traumatic facial nerve and canal.
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Objective To discuss the diagnostic value of high resolution computed tomography (HRCT)and MRI in the congenital inner ear malformation incomplete partition type Ⅱ deformity(Mondini deformity)combined with spontaneous cerebrospinal fluid (CSF)otorrhea.Methods The imaging data including the multiplanar reformation(MPR)images of HRCT,curved planar reforma-tion(CPR)images and MR hydrography images in three patients complicated with recurrent meningitis were retrospectively ana-lyzed.The anatomic changes of the inner ear and middle ear on the affected side were observed,the clinical and imaging features of this disease were summarized.Results One patient had bilateral incidence of the incompletely separated inner ear,combined with semicircular canal dysplasia and cochlear pipe dilation.Two patients had unilateral onset,one of them had concurrent facial nerve ca-nal dysplasia.Humble stapes floor and the defect of the bottom of the internal auditory canal were seen in all the three patients.Con-clusion HRCT with post-processing technology,and MRI have great significance in the diagnosis of the congenital inner ear malfor-mation incomplete partition type Ⅱ deformity (Mondini deformity)combined with spontaneous CSF otorrhea.
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Objective To study the method and diagnostic value of curved planar reformation(CPR)of body canals with multislice spiral CT.Methods 50 patients with various disease of chest and abdomen scanned by multislice spiral CT.CPR of canals of chest and abdomen were performed.Results The images of CPR were acquired satisfactory in all cases.3 cases were normal.There were vascular diseases of chest in 6 cases,lung cancer in 9 cases,disease of abdominal vessels in 10 cases,disease of biliary tract in 10 cases.Carcinoma of the head of pancrease in 4 cases,ureter cancer in 4 cases,ureter stone in 2 cases,tuberculosis of ureter in 1 case,malformation of ureter in 1 case.Conclusion CPR of body canal with multislice spiral CT is an effective method in the diagnosis of various diseases of chest and abdomen.It is an useful supplement of routine CT scan.
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Objective To study the facial nerve canal (FNC) abnormalities of the congenital external auditory canal (EAC) atresia by MSCT curved planar reformation (CPR).Methods 15 cases(17 ears) of congenital EAC atresia were scanned by MSCT. Post-processing images were completed by Philips Mx8000 workstation.Results In 17 ears, there were 2 ears with stenosis of EAC, 2 ears with membranous atresia of EAC and 13 ears with bony atresia of EAC.There were 1 ear with congenital cholesteatoma, 3 ears with malformation of tympanum, 7 ears with malformation of the ossicular chain and 1ear with malformation of inner ear. In 17 ears with abnormalities of FNC, included 11 ears with the shortness of FNC general length, 5 ears with the anomalous course of FNC, 9 ears with the displacement of FNC, 1 ear with the narrowing of FNC and 1 ear with the branch of FNC.Conclusion MSCT CPR of FNC, combined with HRCT axial scan, can clearly show the FNC abnormalities of the congenital EAC atresia and provide valuable information for surgery.
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Objective Using curved planar reformation(CPR)to delineate the ossicular chain(OC)in one image and evaluate its clinical application. Methods HRCT of temporal bone was performed in 122 cases(165 ears).The CPR of OC was then performed.The main parameters were as follow:collimation 0.5mm,pitch 0.875,reformation interval 0.2~0.3mm,reformation matrix 1024?1024.Results (1)CPR of normal OC were performed on 80 ears,the three ossicles and its joints could be showed on one image clearly.(2)Clincal application(72cases):in 39 cases of temporal bone trauma,OCs were normal in 21 cases and abnormal in 18 cases.Subluxation or dislocation of malleoincudal joint(MIJ)(5,5) and incudostapedial joint(ISJ)(5,6),dislocation of MIJ and ISJ with rotation of incus(1 case),fracture of manubrium of malleus(1 case) were found respectively.In 16 cases of external auditory canal dysplasia(EACD),the most commonly associated type of OC deformity was absence of manubrium of malleus(10 cases)。Absence of OC associated with coarctation of middle ear cavity(3 cases) and fusion of the malleus and incus associated with absence of long process of incus represented in 1 case.Congenital ossicular anomalies without associated EACD were found in 2 cases.The long processes of the incus of both side were absent in 1 case.Incudostapedial disconnection was demonstrated in 1 case due to improper development of the long process of the incus.In 15 cases of chronic otitis media(COM),6 cases were complicated cholesteatoma.Destruction of OC was demonstrated in 6 cases.Conclusion CPR of OC with multislice spiral CT is an effective method in the diagnosis of conductive hearing loss.
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Objective To study the curved planar reformation (CPR) imagings of bony canals in craniofacial region with multislice spiral CT.Methods CPR of the bony canals in craniofacial regions were performed in 267 cases by using Philips Mx8000 multislice spiral CT,including facial nerve canal (FNC) in 217 cases,optic nerve canal (ONC) in 28 cases,mandibular canal in 9 cases,carotid canal in 7 cases, jugular foramen in 4 cases and hypoglossal canal in 2 . Scanning parameters were as followed : 120 kV , 200~250 mAs , collimation 0.5mm, pitch 0.625 or 0.875,scan time 0.75s/ring, matrix 512?512.Collimation and reformation interval were 0.5~1.0 mm and 0.2~0.5 mm separately, except for FNC,in which were 0.5 mm and 0.2 mm separately.Reformation matrix was all 1024?1024.Results Of all cases , the images of CPR in 11 were unsatisfied because of the head shaking during the scanning, in other 256 cases , images could show the whole length of canals clearly. In FNC,178 cases were normal , 18 cases had congenital abnormal in the external , middle or inner ear accompanied with changes of length , course and position. 8 cases of otomastoiditis accompanied with cholesteatoma involving facial canal. In 21 cases of temporal bone trauma accompanied with traumatic facial palsy, fracture lines or bony fragments of the FNC were found in 9 cases. 2 cases of facial nerve tumor and 2 cases of jugular foramen schwannoma accompanied with facial canal destruction.24 cases of ONCs were normal. Fracture lines or bony fragments of ONCs were found in 3 cases. Narrowing of ONC was found in 1 cases of fibrous dysplasia.Normal carotid canal was seen in 2 cases, there were 2 cases of carotid canal fracture.1 cases of bony destruction of carotid canal caused by cholesteatoma of petrous apex. Jugular foramen was normal in 2 cases. Destruction and enlargement of jugular foramen were found in 2 cases of schwannoma. In 1 cases, hypoglossal nerve canal was normal. Destruction and enlargement of hypoglossal nerve canal were found in the other cases of schwannoma. Mandibular canal were normal in 4 cases and was involved in 2 cases by mandibular osteomyelitis and mandibular fracture,respectively, and 1 case by mandibular tumor. Conclusion The bony canals in craniofacial regions can be shown clearly by CPR with multislice spiral CT . It can provide more valuable informations than that of the axial scan and multiplanar reformation in the diagnosis of diseases of craniofacial region and was the important supplement of routine CT scan.
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Objective To explore the applied value of multi-slice spiral CT(MSCT) scan in the traumatic facial palsy.Methods 41 cases of traumatic facial palsy were scanned using MSCT,the MPR of interseted region of temporal bone and curved planar reconstruction(CPR) images were performed on Philips Mx8000 MSCT work station.The types,locations and course of the temporal bone fracture and the involving features of the external auditory canal,middle ear,inner ear were observed.Results 39 cases of the 41 patients had temporal fracture in different location.34 cases were longitudinal fracture,2 were transverse fracture and 2 were mixed fracture.The facial nerve canals were involved in 21 cases.Conclusion MSCT and the reformation images can help to study the facial nerve canal in the traumatic patients.It is important to use the MPR and CPR in the traumatic facial palsy.