MRI manifestations of central nervous system involvement in neonatal pigmentary incontinence / 实用放射学杂志

Objective To explore MRI features of incontinentia pigmenti(IP) in central nervous system (CNS) in newborn infants.Methods MRI and clinical data of 17 cases of IP which confirmed by clinic,skin biopsy or NEMO gene test were analyzed retrospectively.Results There were 17 cases with IP in this study.MRI abnormalities were found in 12 cases, among which 3 cases showed high signal intensity on T2WI and a reduced signal intensity on T1WI,and 9 cases showed normal signal intensity on traditional MRI.Multiple areas of restricted diffusion were found in 12 cases which showed asymmetric high signal intensity in bilateral cerebral cortex and subcortical area, basal ganglia,centrum semiovale and periventricular area on DWI.In addition,basal ganglia was involved in 4 cases,corpus callosum was involved in 5 cases, and thalamus was involved in 2 cases.Conclusion MRI of IP in CNS shows certain specific characteristics.DWI plays an important role in the early detection and prognosis of the disease.

The role of MT-ND1 m.3635G>A mutation in Leber's hereditary optic neuropathy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON).</p><p><b>METHODS</b>Biochemical characteristics including the activity of complex Ⅰ, ATP production and oxygen consumption rate among lymphoblastoid cell lines derived from 3 carriers, 3 affected matrilineal relatives of the families and 3 controls were compared.</p><p><b>RESULTS</b>Comparison of mitochondrial functions in lymphoblastoid cell lines of the carriers, patients and controls showed a 51.0% decrease in the activity of complex Ⅰ in patients compared with controls (P<0.05). The m.3635G>A mutation has resulted in decreased efficiency of ATP synthesis (P<0.05). Comparison of oxygen consumption rate showed that the basal OCR (P<0.05), ATP-linked OCR (P<0.05) and the maximum OCR (P<0.05) have all reduced to some extent compared with the controls.</p><p><b>CONCLUSION</b>These results showed that m.3635G>A, as a LHON-associated mutation, can lead to mitochondrial dysfunction.</p>

A novel mutation T8821G in mitochondrial DNA may be associated with Leber's hereditary optic neuropathy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report on clinical, genetic and molecular characterization of two Chinese families with Leber's hereditary optic neuropathy.</p><p><b>METHODS</b>Ophthalmological examinations have revealed variable severity and age at onset of visual loss among the probands and other matrilineal relatives of both families. The entire mitochondrial genome of the two probands was amplified with PCR in 24 overlapping fragments using sets of oligonucleotide primers.</p><p><b>RESULTS</b>The ophthalmological examinations showed that penetrance was 12.5% and 30.0% respectively in the two families. Sequence analysis of the complete mitochondrial genomes in these pedigrees has identified unreported homoplasmic T8821G mutation in the ATPase 6 gene and distinct sets of polymorphisms belonging to haplogroups M10a. The T8821G mutation has occurred at the extremely conserved nucleotide (conventional position 99) of the ATPase6. Thus, this mutation may alter structural formation of ATPase6, thereby leading to failure in the synthesis of ATP involved in visual impairment.</p><p><b>CONCLUSION</b>Above observations have suggested that the ATPase6 T8821G mutation may be involved in the pathogenesis of optic neuropathy in these families.</p>

Identification of mitochondrial DNA ND1 T3866C mutation in three ethnic Han Chinese families affected with Leber's hereditary optic neuropathy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report on the clinical, genetic and molecular characteristics of three ethnic Han Chinese families affected with Leber's hereditary optic neuropathy (LHON).</p><p><b>METHODS</b>The three families were all diagnosed with LHON. Ophthalmologic examinations were conducted on the probands . The ND1, ND4 and ND6 genes of the mitochondrial DNA (mtDNA) were amplified with PCR respectively for the screening of three primary mutations G3460A, G11778A and T14484C. The entire mtDNA of the probands were also amplified by PCR.</p><p><b>RESULTS</b>Analysis of mtDNA in the three pedigrees has failed to find the presence of the three LHON associated mutations but presence of a homoplastic ND1 T3866C mutation in all probands and their matrilineal relatives . The probands had different levels of visual impairment. The penetrance in the three families has been calculated as 12.5%, 11.1% and 33.3%, respectively. The T3866C mutation has resulted in replacement of isoleucine at position 187 with theronine. The isoleucine at position 187 is located at one of the transmembrane domains of ND1 polypeptide.</p><p><b>CONCLUSION</b>Above results have suggested that the ND1 T3866C mutation might have been involved in the pathogenesis of LHON in the three Chinese families studied.</p>

Spectral CT imaging in pediatric patients with solid tumor in abdomen: preliminary evaluation of whether high energy contrast-enhanced spectral images could replace plain scan for radiation dose reduction / 中华放射学杂志

Objective To evaluate if high energy spectral CT images of contrast-enhanced phase could replace the plain scan for radiation dose reduction in children with solid tumor in abdomen.Methods Thirty children with solid tumor in the abdomen underwent CT scan.Plain CT scan was performed as usual,and the contrast-enhanced scan was performed with spectral CT imaging mode.Eleven sets of monochromatic images were reconstructed from the enhanced spectral CT with energies from 40 to 140 keV with 10 keVinterval.CT values for liver,spleen,kidney,pancreas,muscle,vessel and tumors were measured on both the plain and contrast-enhanced spectral images and were statistically compared.Two board-certified radiologists reviewed both plain and contrast-enhanced spectral images for image quality,calcification and tumor characterization.Radiation dose was recorded(CTDIvol,DLP).Pair t test was used to analyze the difference.Results At 140 keV,CT values of the contrast-enhanced spectral images had good correlations with those of plain scan for various organs.The paired CT values between the 140 keV and plain phaseimages were (62.8± 1.1 vs.59.8±4.0),(69.4±2.6vs.63.1 ±5.6),(52.7 ±5.1 vs.51.4±4.0),(35.4± 5.9 vs.35.7 ±5.3),(51.4±8.6vs.50.0±5.7),(55.5±6.6vs.54.7±5.7) and (33.2± 10.4vs.35.4± 12.1) HU for vessel,liver,spleen,kidney,pancreas,muscleand tumor,respectively.There was no significant difference between two groups(t=0.335 to 2.127,P＞0.05).140 keV images of the contrast-enhanced spectral scan in pediatric tumor patients provided adequate image quality (4.4±0.8 points and 3.7±0.5 points)for describing solid tumor features and calcification.The radiation dose of plain phase and contrast-enhanced phase were [CTDIvol (1.6±0.8) mGy,DLP(46.4±36.8)mGy·cm and CTDIvol(12.7±0.1)mGy,DLP(378.6±91.4)mGy·cm.Conclusion It isfeasible to replace plain CT with 140 keV contrast-enhanced spectral images to reduce 10％ radiation dose.

The study of X-ray findings and clinical factors of neonatal necrotizing enterocolitis / 实用放射学杂志

Objective To study the X-ray findings and clinical factors of the neonatal necrotizing enterocolitis (NEC)and to im-prove the detection rate of neonatal NEC-especially early lesions.Methods To retrospectively analyzed the plain abdominal radio-graphy images and clinical data of the 21 cases with confirmed neonatal NEC by clinical and surgical diagnosis.Results The X-ray findings of neonatal NEC:stageⅠ:10 cases showed the changes in intestinal motility and the interval thickness between the intestine≤2 mm;stageⅡ:① 4 cases showed the interval thickness between the intestine > 2 mm;② 4 cases showed the pneumatosis of the intestinal wall;③ the pneumatosis of the portal vein were three cases;stage Ⅲ:① 3 cases showed seroperitoneum;② pneumoper-itoneum were three cases.18 cases (85%)were the premature infan;1 6 of 21 cases NEC were the low birth weight;neonatal re-spiratory distress syndrome,infection,pneumonia,sepsis,and mechanical ventilation therapy are important risk factors of NEC. Conclusion X-ray findings has characteristic signs in the neonatal NEC.At the early of NEC,it is very important to make the correct diagnosis need combine X-ray performance with the clinical manifestations and risk factors for,with the necessary dynamic follow-up review in the clinical treatment and prognosis.

CT Diagnosis of Periventricular Leukomalacia in Children / 实用放射学杂志

Objective To study the etiology and clinics as well as CT diagnostic value of periventricular leukomalacia(PVL)in children.Methods Clinical and CT findings in 130 cases of PVL were retrospectively analyzed.Results 85 cases were premature newborn babies(65.4%) and 45 cases were fullmature newborn(34.6%) with hypoxic ischemic encephalopathy.CT showed the lateralventricle enlarge in different degrees and the white matter of periventricle decreased.Conclusion CT scan is of important value indiagnosis of PVL.

Gray Matter Heterotopia:CT Diagnosis / 实用放射学杂志

Objective To analyze the CT appearances and the classification of gray matter heterotopia.Methods The clinical and CT data of 26 cases with gray matter heterotopia were retrospectively reviewed,11 were males and 15 were females,ranged in age from 2 days to 9 years with a mean of 2.6 years.Results The classification of heterotopia included:(1)Subependymal heterotopia in 14,5 cases with encephaloceles,1 case with Dandy-Walker malformation and 1 case with arachnoid cyst of cisterna megna.(2)Subcortical heterotopia in 7,4 cases with callosal agenesis were accompanied.(3)Band heterotopia in 5.Conclusion CT scan can not only reveal the appearances of the subependymal,subcortical and band types heterotopia,but also show other associated abnormalities.

CT Diagnosis of Traumatic Cerebral Lacunar Infarction in Children / 实用放射学杂志

Objective To investigate CT features and its diagnostic value of traumatic cerebral lacunar infarction. Methods Axial CT scan was performed in 26 cases of brain injury with clinical manifestation of different degree of hemiplega.Results The infarction appeared as small lacunar focuses which were located mainly in the regions of lenticular nucleus,caudate nucleus and internal capsule.Conclusion CT scan is of significant value in diagnosing the traumatic cerebral lacunar infarction and assessing its prognosis.

CT Diagnosis of Split Cord Malformation in Children / 实用放射学杂志

Objective To study the appearances of split cord malformation(SCM)and evaluate the diagnostic value of CT for SCM.Methods Clinical and CT data of 48 cases with SCM were analyzed retrospectively ,21 were males and 27 were females,ranged from 1 day to 8 years with a mean of 11.6 months. All cases evaluated by plain CT with coronal and sagittal reconstructions.Results Type I accounted 75%, consisted of two hemicords, each contained in its dural tube and separated by a rigid median septum .TypeⅡaccounted 25%, consisted two hemicords contained in a single dural sac separated by a non-rigid, fibrous median septum. Associated abnormalities: tethered cord syndrome(n=38), syringomyelia(n=9), intradural lipomas(n=10), meningocele(n=18).Conclusion CT can clearly demostrate the position, the septum and the shape of the SCM, as well as associated abnormalities.