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OBJECTIVE@#To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD).@*METHODS@#The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and bioinformatic analysis were carried out to verify the candidate variant sites associated with the clinical phenotype.@*RESULTS@#Genetic testing showed that the proband has carried compound heterozygous variants of the TRNT1 gene, namely c.88A>G(p.Met30Val) and c.363G>T(p.Glu121Asp). Sanger sequencing confirmed that the variants were respectively inherited from his father and mother. The variants were unreported previously. By bioinformatic analysis, both variants were predicted to affect the stability of binding of the TRNT1 protein with tRNA. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.88A>G and c.363G>T variants of TRNT1 gene were predicted to be uncertain significance (PM2+PP3+PP4) and likely pathogenic (PM1+PM2+PP3+PP4), respectively.@*CONCLUSION@#The c.88A>G (p.Met30Val) and c.363G>T(p.Glu121Asp) compound heterozygous variants of the TRNT1 gene probably underlay the disease in this patient. Above finding has enriched the spectrum of TRNT1 gene variants.
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Humans , Genetic Testing , NucleotidyltransferasesABSTRACT
Objective To explore the value of MRI in prenatal diagnosis of fetal esophageal atresia and to provide assistance for prenatal counseling.Methods A retrospective analysis of fetal MRI data of 1 1 cases due to ultrasound findings of hydramnios,small gastric vacuoles or unclear findings,and 22 to 3 5 gestational weeks was performed.MRI sequences included singleGshot fast spin echo (SShFSE),sequence and balanced fast field echo (BFFE),freedom cervical and thoracic cross,sagittal and coronal sectional scans, especially sagittal scans were used to observe fetal esophagus and trachea.Results In 1 1 cases prenatal ultrasound showed that the gastric cavities were small in 6 cases,not seen in 3 cases,and normal in 2 cases;5 cases of amniotic fluid increased,and 6 cases were normal;2 cases were diagnosed as susepected esophageal atersia by ultrasound.Eight patients were diagnosed as fetal esophageal atresia by MRI;one case was missed;two patients underwent MRI to show normal esophageal.9 cases of fetus were diagnosed as esophageal atresia by autopsy or postnatal examination.The MRI findings of fetal esophageal atresia showed that the upper esophagus was expanded in 6 cases,the esophagus was never showed in 3 cases,of which 1 case was missed by MRI,with the esophagus not shown,normal size of stomach bubble and normal amount of amniotic fluid.Among 11 cases,combined with cardiac macrovascular malformation in 4 cases;bilateral kidney volume decreased in 1 case;ventricular dilated in 3 cases;and single umbilical artery in 1 case.6 patients underwent induction of labor during followGup;4 patients were born successfully,including 2 patients undergoing surgery;2 patients with normal esophagus;and 1 patient with 40 weeks of fetal death.The accuracy of MRI in diagnosis of esophageal atresia was 88.9%.Conclusion Using repeated scanning of SShFSE and dynamic BFFE sequence,we can accurately observe fetal esophageal track.Fetal MRI is helpful in the diagnosis of fetal esophageal atresia,which can be used as a complement of prenatal ultrasound diagnosis method.
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Objective To investigate the application value of magnetic resonance enterography (MRE) with multiple sequences in detection of children bowel intestinal diseases .Methods Retrospective analysis of 35 patients with bowel diseases confirmed by clini‐cal results ,surgery and pathology was performed .The patients underwent MRE with multiple sequences including T 1WI ,fat‐suppressed T2 WI ,diffusion weighted imaging (DWI) ,single‐shot fast spin‐echo (SSh‐TSE) sequence ,rapid balance fast field echo (B‐FFE) ,and unenhanced and enhanced fat‐suppressed (FFE‐IP‐SPAIR) scans .Results SSh‐TSE showed the whole intestinal distribution in 34 patients (34/35);DWI showed the lesions with high signal in 29 (29/35);T1WI and fat‐suppressed T2 WI showed hyperintensity on T2WI in 3 ,slight hypointensity on T1WI and T2WI in 2 ,and hyperintensity on T1WI and hypointensity on T2WI in 1 .Enhancement of lesion was found in 28 ,and unenhancement was in 2 .Conclusion MRE with multiple sequences with more information ,sensitivity and non‐ionizing radiation ,can be used as an important method in diagnosis of children intestinal diseases .
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Objective To retrospectively investigate the value of MR enterography(MRE) for detecting symptomatic Meckel diverticulum(MD) in pediatric patients.Methods We retrospectively selected 16 patients from our MR database patients who underwent MRE between June 2014 and September 2015.They were referred for MRE because of suspected MD after negative or inconclusive upper sonography or scintigraphy or for exclusion diagnosis.There were 13 males and 3 females,with a median age of 2.2 years of age ranging from 0.4 to 8.2 years old.The first symptom included unexplained gastrointestinal bleeding,abdominal pain,small-bowel obstruction,intussusception,vomiting and fever.Two experienced radiologists determined the diverticulum's location,shape,contents and peripheral structural abnormalities.Results MD were diagnosed by MRE in all children.A total of 13 MD and 3 intestinal duplication cysts were pathologically confirmed.The diverticulum's location included:the right lower quadrant in 2 cases,around the navel in 4 cases,the left lower quadrant in 4 cases,the middle quadrant in 2 cases and pelvic cavity in 1 case.The diverticulum's presented as a blind-ending fluid-filled or gas-filled structure in 11 cases and a solid-appearing mass in 2 cases.The wall of the diverticulum showed restricted diffusion,increased mural enhancement comparable with that of adjacent small bowel in 12 cases,and interruption of the wall continuity in 1 case.Hemorrhage in diverticulum appeared as hyperintensity on T1WI images and/or hypointensity on T2WI images in 2 cases.Extravasation of intravascular contrast medium into the gastrointestinal tract due to active bleeding from a Meckel diverticulum was detected in 2 cases.Peripheral structural abnormalities included soft-tissue stranding,adjacent mesenteric stranding and enhancement,free fluid,small-bowel obstruction and enlarged lymph nodes.Conclusion MRE may play an important role in the diagnosis of suspected symptomatic Meckel diverticula,particularly given its lack of ionizing radiation.
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Objective To analyze the imaging characteristics of hepatic involvement in Langerhans cell histiocytosis(LCH) in children on MRCP, MRI and CT. Methods Twenty-nine children from three children hospitals in China, who were diagnosed as hepatic involvement by disseminated LCH during Aug 2008 and Jan 2015 were included in this study. Their MRCP (n=16), MRI (n=22), contrast?enhanced CT (n=15) data were retrospectively analyzed. The stenoses and dilatation of the intrahepatic bile ducts, the common hepatic bile duct and its first order branches and the common bile duct were evaluated on the MRCP image. The size and shape of the liver, the imaging characteristics of the periportal lesions in the Glisson sheath and hepatic parenchymal lesions were also evaluated on the cross?sectional images. Results MRCP indicated alternative stenoses/dilatation of the bile duct tree (n=16), stenoses of the common hepatic duct and its first?order branches (n=15), partialindistinctness of the common bile duct (n=2) and multiple cystic lesions along the biliary tree (n=5). On the cross?sectional images, the periportal lesions in the Glisson sheath were observed in 28 children. On MRI, the periportal lesions were shown in all the 22 children with MRI, presented as hypo-signal intensity on T1WI, hyper?signal intensity on T2WI (n=11) or mixed?signal intensity on T1WI and T2WI (n=11); On CT, the periportal lesions were found in 14 of the 15 children with CT, presenting as low density (n=13) and mixed density (n=1). Multiple nodular or cyst?like parenchymal lesions were observed in 21 patients including 18 patients on MRI and 5 patients on enhanced CT. Sixteen patients presented as hypo?intensity on T1WI, hyper?intensity on T2WI and low density on plain CT, and 5 patients with iso? or hypo?intensity on T1WI, hypo?intensity on T2WI,and milder enhancement relative to the adjacent parenchyma on contrast?enhanced CT. Conclusions The imaging characteristics of hepatic involvement by LCH include alternative stenoses and dilatation of the intrahepatic ducts, stenoses of the common hepatic bile duct and its first?order branches on MRCP, the periportal lesions in the Glisson sheath and hepatic parenchymal nodular or cyst?like lesions on cross?sectional images.
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Objective To explore the value of MRI in the diagnosis of fetal aortic arch anomalies. Methods We retrospectively collected 10 fetuses with aortic arch anomalies indicated by prenatal ultrasound and underwent MR examination and were subsequently proven by autopsy or post-birth follow-up from 320 pregnant women. We focused on the observations of the location of the aortic arch and brachiocephalic artery anomalies, the locations of the liver and stomach in the abdominal cavity, and the large vessels in abdomen. The above-mentioned finding were compared with prenatal ultrasound and follow-up findings. Results Of 10 cases, right aortic arch with aberrant left subclavian artery was seen in 7 cases, right aortic arch with the mirror branch, left aortic arch with aberrant right subclavian artery, right aortic arch with aberrant left subclavian artery combined with cervical aortic arch and double aortic arch was seen in 1 case, respectively. All aortic arch anomalies detected by MRI were consistent with post-birth or autopsy findings. Ultrasound misdiagnosed aortic branch malformation in 5 places, which included right aortic arch but misdiagnosed aberrant left subclavian artery in 2 cases, right aortic arch never diagnosed mirror branch anomaly in 1 case, right aortic arch with left subclavian artery misdiagnosed cervical aortic arch in 1 case, left atrial isomerism but misdiagnosed left aortic arch with aberrant right subclavian artery in 1 case;One double aortic arch was misdiagnosed as right aortic arch with aberrant left subclavian artery in ultrasound. Conclusion Fetal cardiovascular MRI is an effective and supplementary examination to complement ultrasound in diagnosis of fetal aortic arch anomalies.
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Objective To analyze CT and MR features of malignant peripheral nerve sheath tumor (MPNST)of children. Methods Sixteen patients with histologically proven MPNST were retrospectively reviewed.There were 8 male and 8 female, ages from 0.3 to 11.0 years, and median age was 2.5 years. Sixteen cases were performed with CT plain scan, and eight cases with CT enhancement scans, and three with MR examination. The imaging data were analyzed by two highly experienced doctors and obtained agreements after mutual consultation. Results Among 16 cases, 3 cases were located at neck, 5 cases at waist and back,3 cases at abdominal and pelvic, 2 cases at foot, 1 case at left clavicle, 1 case at right mediastinum, 1 case at right orbit. Fifteen cases appeared as solid masses and 1 case showed a diffuse growth. CT plain scan showed 8 cases were solid-appearing masses and 7 cases were cystic-solid mass. Enhanced CT showed enhancement of solid component was moderate to marked and gradually delayed enhanced while cystic component had no any enhancement. One was located on the left side of the neck and appeared as diffuse growth. Two cases of solid mass type appeared as hypo-intensity on T1WI and hyper-intensity on T2WI, and obviously high signal intensity of cystic component on T2WI, and with significantly heterogeneous enhanced.One case with diffuse growth appeared as hypo-intensity on T1WI and slightly hyper-intensity on T2WI, and with significantly enhanced. Sixteen cases appeared as invasive growth, 11 caseswith multiple organic metastases and recurrences, and 4 cases with neurofibromatosis type I and scoliosis.Conclusion CT and MR appearances of MPNST have certain characteristic features, and can demonstrateaggressive performance and multiple organic metastases, which is helpful for definite diagnosis and treatment plan.
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Objective To discuss the therapeutic effect of transcatheter arterial embolization using hardening agent combined with oral propranolol in treating giant hemangioma at maxillofacial region in infants. Methods During the period from October 2013 to December 2014 at Imaging Center of Anhui Provincial Children's Hospital, transcatheter arterial embolization using hardening agent combined with oral propranolol was employed in a total of 27 infants with giant hemangioma at maxillofacial region. The age of the infants ranged from 2 months to 22 months (mean 5.9 months) and the body weight was 4.5-10 kg with a mean of 6.32 kg. Angiography via femoral artery was performed, which was followed by super-selective catheterization of hemangioma-feeding artery, and then pingyangmycin lipiodol emulsion was injected into the hemangiomas with subsequent injection of PVA particles to obstruct the hemangioma-feeding artery. After the embolization treatment, the patient received oral propranolol for 3-6 months. Results All the infant patients were followed up for 3-6 months. Clinical examination and ultrasonography indicated that the hemangioma was cured in 20 infants (75%) and the therapeutic result was effective in 7 infants (25%). Skin necrosis at hemangiomas site was observed in 2 infants (7.5%), which was cured after symptomatic treatment. No serious complications such as pulmonary embolism, cerebral embolism occurred, and no recurrence was observed. Conclusion For the treatment of giant hemangioma at maxillofacial region in infants, transcatheter arterial embolization using hardening agent combined with oral propranolol is minimally invasive, quickly effective and highly safe;and this treatment leaves no scar formation in most cases. Therefore, this technique is worthy of clinical application.
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Objective To evaluate ultrasonography combined with magnetic resonance imaging(MRI) diagnosis value for fetal brain deformities.Methods The results of ultrasonography and MRI was analysied in 12 fetuses with deformities,which were compared to postnatal,autopsy or other hospital inspection results and evaluated the accuracy.Results In 8 cases,the diagnoses established by ultrasonography were correct.3 cases were misdiagnosed by ultrasonography,1 case was missed the diagnosis.In 11 cases,the diagnoses established by MRI were correct and 1 case was missed the diagnosis.Conclusion Ultrasonography must be choosed in diagnosising fetal skull brain deformities,MRI was supplement to ultrasonography in complicated pregnancies.The combination of ultrasonography and MRI have an important value in guiding pregnant women to determine whether or not to continue the pregnancy.
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Objective To explore the value of multislice computed tomography (MSCT) in diagnosis of vascular rings associated airway abnormalities in children. Methods CT image data were retrospective analysis in 159 cases of vascular rings, including multiplanar reconstruction (MPR), maximum and minimum density project reconstructions. The relationship between the vascular rings and airway had been observed. Results Of 159 cases of vascular rings as-sociated with airway stenosis in 101 cases, the main airway stenosis in 79 cases, left main bronchial stenosis in 14 cas-es, right main bronchus in 8 cases, tracheal bridge in 14 cases, tracheal bronchial in 11 cases, symmetry bronchial in 2 cases. Conclusions Vascular ring often causes compression of airway narrow and dysplasia. MSCT can clearly display vascular rings and its relationship with airway, providing help for surgical and reasonable treatment.
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Objective To investigate the CT manifestations of Meckel's diverticulum and its complications in children. Methods Retrospective analysis of Clinical and CT findings in 25 cases with pathologically proved Meckel's diverticulum. The unenhanced and contrast-enhanced CT were obtained in all patients. Results (1)The direct signs: the diverticulum cannot be shown in 5 cases; the diverticulums were found around the navel or in lower right abdomen in 20 cases. The blind-ending fluid-filled or gas-filled structures were found in 9 cases, with heterogeneous ring-enhancement. The tubercle-like structures were detected in 11 cases, which showed no enhancement in 4 cases, and homogeneous enhancement in 3 cases,and heterogeneous enhancement in 4 cases. (2) The indirect signs included intestine obstruction in 8 cases,swelling fat layer surrounding the diverticulum in 9 cases, free gas around the diverticulum in 3 cases,thickened mesentery in 8 cases, ascites in 4 cases, and intussusception due to inverted Meckel's diverticulum with "target sign" in 1 case. (3) CT classification: with diverticulitis or diverticular bleeding in 20 eases; with intestine obstruction or intussusception in 8 cases; bands-caused obstruction in 7 cases;intussusception in 1 case; with perforation in 3 cases. Conclusion Meckel's diverticulum and its complications have typical CT findings, and CT can clearly demonstrate diverticulum's shape, margin,internal components and surroundiug tissues.
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<p><b>OBJECTIVE</b>To prepare a noisome formulation of Semen Strychni alkaloids extract with high encapsulation efficiency.</p><p><b>METHOD</b>S. Strychni alkaloids were encapsulated into niosomes by pH gradient loading method. The factors influencing on the encapsulation efficiency were investigated, and formulation and preparation process of niosomes were optimised and validated.</p><p><b>RESULT</b>When the drug to lipid weight ratio was under 1: 10, pH gradient in buffer solution of citric acid at 50 degrees C was more than 4.0, the niosomes (mean diameter 179.2 nm and Zeta potential -25.41 mV) were formed with encapsulation efficiency of over 86.9%.</p><p><b>CONCLUSION</b>The pH gradient loading method was reliable for preparing niosomes of Semen Strychni alkaloids extract.</p>
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Alkaloids , Chemistry , Capsules , Drug Compounding , Methods , Drugs, Chinese Herbal , Chemistry , Hydrogen-Ion Concentration , Liposomes , Chemistry , Strychnos nux-vomica , Chemistry , TemperatureABSTRACT
Objective To explore the way and the clinical value of chest coronal CT scan in children.Methods There were 16 patients with airway or pulmonary diseases proved by clinic underwent chest coronal scan,the ages ranged from 3 months to 5 years.Picker Ultra-Z spiral CT unit was applied,the aperture of the gantry was 70 cm,gantry's maximum tilted angle was 30?.The scanning parameter were :120 kV,200 mA,0.9 s,spiral pitch 1.5,thickness 2 mm,space 1.5 mm.Results The chest coronal images acquired in all cases were good.Tracheobronchial tree up to lobar bronchi were all displayed.Bronchial foreign body in 12 cases,bronchia tumor in 1 cases,lung hypogenesis in 1 case,lung inflammation in 8 cases,atelectasis in 5 cases and the local emphysema in 10 cases were demonstrated on CT images.Conclusion Children's chest coronal CT scan can show the whole tracheobronchial structure.It has high clinical applied values.
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Objective To analyzed imaging features of testicular and epididymal tumors or inflammatory nodes in children and to improve its diagnostic accuracy.Methods 13 cases underwent ultrasonography,of them,plain CT scan in 10 cases,enhanced CT scan in6 cases.Its signs were retrospectively analyzed and compared with surgical and pathological results.Results On ultrasonography,theinhomogenous and different echo could be viewed in 13 cases,color Doppler flow imaging was abundant in 8 masses,3 cases with littler,empty blood flow in 2 cases and retroperitoneal lymphatic metastasis were viewed in 2 cases.On plain CT scan,masses were mixed density in 4 cases,calcification could be seen within tumor in 3 cases,masses were soft tissue or main soft tissue density in 6 cases.Contrast-enhancedCT scan displayed obviously and inhomogenously in 4 cases,lightly enhancment in 1 case and no enhanced in 1 case.By surgical andpathological confirmed,3 were mature treatomaes,1 was immaturity teratoma,4 were yolk sactumor,3 were inflammatory nodes,1 wasrhabdomyosarcoma and 1 was cystic lymphangioma.Conclusion Each kind of testicular tumors in children has its owns CT and UScharacteristics.In combination of CT and US can carry high diagnostic accuracy.
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AIM: To establish the quality standard for Compound Ruangan Granule(Radix Astragali, Radix et Rhizoma Salviae multiorrhizae,Ganoderma,Radix Paeoniae rubra,Radix Bupleuri) METHODS: The thin liquid chromatography was used to identify the four botanical drugs,the content of astragalosideIV in Compound Ruangan Granules was determined by HPLC-ELSD and the content of salvianolic acid B was determined by HPLC.(RESULTS:) The average content of astragalosideⅣ was 0.404 mg/g.The average recovery and relative standard deviation were 97.61% and 1.27%,respectively.The average content of salvianolic acid B was 5.76 mg/g.The average(recovery) and relative standard deviation were 98.64% and 0.90%,respectively.( CONCLUSION:) The method can be(adopted) as a standard for the quality control of Compound Ruangan Granules.