Volumetric measurement of hepatic tumors: Accuracy of manual contouring using CT with volumetric pathology as the reference method.

PURPOSE: The purpose of this study was to assess the accuracy of liver tumor volumetry by manual contouring on computed tomography (CT) compared to pathological tumor volume determined from surgical specimen that served as a reference method. PATIENTS AND METHOD: Thirty-eight patients with planned liver surgery and a total of 41 liver tumors were included. There were 24 men and 14 women (mean age: 57 years; range: 32-85 years). Two readers calculated tumor volume by manual contouring on axial CT images. The reference tumor volume was calculated by manual contouring with dedicated software applied to the liver specimen slice. CT and pathology volumes were compared and the percentage of error (PE%) was calculated. Intraobserver and interobserver variabilities were calculated using Bland and Altman plots, and intraclass correlation coefficients (ICC). RESULTS: A strong correlation was found between CT tumor volumes and pathology tumor volumes (r=0.994; P<0.001 for both readers). The mean (±SD) and median (range) PE% were 19%±12% and 16% (1%, +42%) and 19%±15% and 17% (0%, +55%) for readers 1 and 2, respectively. Readers 1 and 2 significantly overestimated tumor volume (i.e., PE%>40%) in 3 (7%) and 2 (5%) tumors on CT, respectively. Tumor volume was not significantly underestimated in any of the patients (i.e. PE%>33%). Tumor size, CT attenuation, time between imaging and surgery, contours and margin definition did not influence the results of PE% values (all P values>0.05 for both readers). The bias and limits of agreement between the two readers were +4.6% and (-24%, +33%) with an ICC of 0.997. CONCLUSION: There was a strong correlation between tumor volume measured on CT and that assessed with surgical specimen. Tumor size, visibility of contours and tumor margins and the time between CT and surgery did not influence the results.

[Carpal model and biomechanics]. / Modélisation du carpe osseux et biomécanique.

Carpal morphology and orientation of carpal bones are usually studied on two-plane radiography. Those measurements depend on the incidence of X-ray and on the expertise of physician. A method that eliminates both should improve the accuracy of those measurements. The digital data from computed tomography scans can be use to describe carpal geometry. We defined biometric and angular parameters allowing the study of carpal morphology and bones orientation. From digital data from computed tomography scans software can obtain bone volume, inertia principal axis and volume of ellipsoid of inertia. Bone centroid location and principal axis orientation can be used to study bones orientation. 3D distances ratio between geometry centroid of carpal bones. The measurements allowed by this methodology are numerous. A study of a more consistent series of normal wrists will allow in the future for each quantitative parameter to define the normal range. A comparative study of normal wrists and pathology wrists should allow defining, for each pathology, the most judicious quantitative parameters.

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown. METHODS: We studied a series of 10 antenatal cases in whom the diagnosis of CHARGE syndrome was suspected, considering that a careful pathological description would shed light on the CHD7 function during development. CHD7 sequence analysis and in situ hybridisation were employed. RESULTS: The diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation. Interestingly, arhinencephaly and semi-circular canal agenesis were two constant features which are not included in formal diagnostic criteria so far. In situ hybridisation analysis of the CHD7 gene during early human development emphasised the role of CHD7 in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome. CONCLUSIONS: These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.

[Semi-automatic measurements of hepatic lobes. Application to study of liver volumes. Analysis of 50 computed tomography of normal liver]. / Mesure semi-automatique des différents lobes hépatiques. Application à la recherche d'une corrélation entre volumes des lobes du foie. Une étude sur 50 angioscanners de foies sains.

OBJECTIVE: Healthy and pathological hepatic volumetry can be of great interest in Liver pathology and treatment. We studied the hepatic segmentation in order to verify if it is possible to estimate the volume of one lobe, when the volume of the other lobe or the total liver is known. PATIENTS AND METHODS: We studied 50 normal hepatic angiotomographies. For each exam and using the Couinaud classification, we measured the total hepatic volume, the right lobe, the left lobe and the caudate lobe volumes. We used a software called "Hepato" developed in order to quantify automatically CTScan images of the liver. We performed a linear regression analysis (least squares method) and calculated the determination coefficient to study the correlation between the different volumes. RESULTS: The mean total hepatic volume was 1497 cm3. We obtained for the right lobe 1231 cm3, 226 cm3 for left lobe, and 39 cm3 for the caudate lobe. Moreover there was a weak correlation between these volumes. CONCLUSION: Exact volume estimation of an hepatic lobe in one patient can not be obtained from the total hepatic volume. However, theses volumes can only be measured from three-dimensional images. Since classical image editing tools are time request, it becomes impossible to utilize them in a clinical routine to get the different volumes of the Liver. Thus, a software dedicated for liver parenchyma recognition is necessary.

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.

The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of the six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal hypoplasia on temporal bone CT-scan. We report on semicircular canal agenesis/hypoplasia in three patients with three to four features of the CHARGE syndrome and neither coloboma nor choanal atresia and we propose to include temporal bone malformations as a major criteria for diagnosis of CHARGE syndrome.

[Diagnosis of phenylketonuria in a 35-year-old mother in relation to prenatal diagnosis of intrauterine growth retardation with microcephaly]. / Diagnostic de phénylcétonurie chez une mère âgée de 35 ans à l'occasion de la découverte anténatale d'un retard de croissance intra-utérin avec microcéphalie.

BACKGROUND: Some French pregnant women with phenylketonuria (PKU), born before 1978, have not been tested with the Guthrie method during the neonatal period. They have a risk of spontaneous abortion and their infants are often mentally retarded with microcephaly and/or congenital heart anomaly. CASE REPORT: A woman with a moderate mental retardation became pregnant at the age of 31 years. Her newborn had a severe intrauterine growth retardation with microcephaly and developed mental retardation. This mother became pregnant again 4 years later. Repeated fetal ultrasonography showed progressive growth retardation. Maternal blood phenylalanine concentration was 18 mg/100 mL. Therapeutic abortion at 27 weeks of gestational age showed a fetus with several abnormalities, particularly cardiovascular and cerebral. CONCLUSION: It is still possible to meet women with unrecognized atypical PKU. Fetus or infant born with unexplained growth retardation and microcephaly requires search for maternal PKU.