Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.

Holoprosencephaly (HPE) is the most common congenital cerebral malformation, characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been associated with HPE and are often inherited from an unaffected parent, underlying complex genetic bases. It is now emerging that HPE may result from a combination of multiple genetic events, rather than from a single heterozygous mutation. To explore this hypothesis, we undertook whole exome sequencing and targeted high-throughput sequencing approaches to identify mutations in HPE subjects. Here, we report two HPE families in which two mutations are implicated in the disease. In the first family presenting two foetuses with alobar and semi-lobar HPE, we found mutations in two genes involved in HPE, SHH and DISP1, inherited respectively from the father and the mother. The second reported case is a family with a 9-year-old girl presenting lobar HPE, harbouring two compound heterozygous mutations in DISP1. Together, these cases of digenic inheritance and autosomal recessive HPE suggest that in some families, several genetic events are necessary to cause HPE. This study highlights the complexity of HPE inheritance and has to be taken into account by clinicians to improve HPE genetic counselling.

Pubo-femoral distance: an easy sonographic screening test to avoid late diagnosis of developmental dysplasia of the hip.

OBJECTIVES: To propose an easy and reproducible sonographic screening test able to avoid late presentation of developmental dysplasia of the hip (DDH). METHODS: The pubo-femoral distance (PFD) cut-off point was determined on 980 infants who underwent ultrasonography of the hips in comparison with the final diagnosis, based on clinical, ultrasound data and follow-up. PFD reproducibility was tested on 52 hips by both an experienced and an inexperienced radiologist. After teaching this screening method to general radiologists, its impact was evaluated by analysing the rate of late diagnosis in an entire administrative area. RESULTS: An abnormal PFD threshold above 6 mm gave a sensitivity of 97.4 % for the diagnosis of DDH (271 hips) and a specificity of 84 %. Sensitivity increased to 100 % when taking into consideration children of 1 month or older. The PFD measurement stayed reproducible even in inexperienced hands (k = 0.795). For 3 years, following the extension of screening to all female infants, there was no late diagnosis of DDH in girls in amongst a catchment area of 1 million inhabitants. CONCLUSIONS: PFD measurement with a threshold for abnormality of 6 mm at the age of 1 month, without asymmetry above 1.5 mm, could eradicate DDH late diagnosis.

A revised classification of the temporal branches of the posterior cerebral artery.

PURPOSE: Understanding the vascular variability of the inferior temporal occipital regions is essential for microsurgical approaches to this cerebral zone. To this end, we carried out a microanatomical study of the inferior temporal cortical branches of the posterior cerebral artery (PCA) in order to define their vascularisation territories. METHODS: We studied 40 cerebral hemispheres (20 brains) under an operating microscope. Three brains were fixed in Winkler's solution with latex arterial perfusion and the other 17 brains were fixed in formaldehyde solution. RESULTS: Our revised classification was based on the following findings. First, the anterior hippocampal artery was always associated with the anterior temporal artery, with the two sharing the vascularisation of the anterior part of the inferior temporal lobe. Second, the middle hippocampal and middle temporal arteries were never present together. Third, the presence of an anterior temporal artery always involved the presence of a posterior temporal artery. Hence, we classified the temporal branches of the PCA into three new patterns. The first pattern includes the anterior and posterior temporal arteries without the anterior hippocampal artery. The second pattern includes the anterior hippocampal artery and anterior and posterior temporal arteries. The third pattern includes the common temporal artery. The first pattern was found most frequently (n = 23, 57.5%), followed by the second (n = 9, 22.5%) and third patterns (n = 8, 20%). CONCLUSIONS: We propose a revised classification of the inferior temporal branches of the PCA that takes into account their vascularisation territories.

[Analytic study of hopes and perceptions of second-year medical school students during gross anatomy laboratory cessions]. / Enquête sur les attentes et appréhensions des étudiants de deuxième année de médecine au cours des séances de dissections.

INTRODUCTION: Using an anonymous questionnaire, this study aimed to assess hopes and perceptions of second-year medical school students faced to gross anatomy dissections and to appreciate the status of dissection within the others anatomical teaching tools. MATERIALS AND METHODS: The questionnaire was distributed among 210 second-year medical students during gross anatomy dissections. The first part of the questionnaire aimed to assess perceptions of students before dissections while the second part aimed to position dissection in their anatomical teaching cursus. RESULTS: Within the 210 students participating to the study, 70 (45%) had not seen a dead human body before the laboratory cession. The main stressful factors were technical difficulties encountered during dissection more than embarrassment in front of the cadaver. The level of stress was significantly higher in female students. Hand, neck and gluteal regions were the most stressful regions reported by students. Students considered that gross anatomy dissection was a key ritual experience crucial for their formation that should not be only proposed to senior practitioners. CONCLUSION: This study illustrates the invariable interest of medical students for gross anatomy laboratory cessions that permit a first technical experience, faced to the death.

Arterial spin labeling in clinical pediatric imaging.

Arterial spin labeling (ASL) perfusion-weighted magnetic resonance imaging is the only approach that enables direct and non-invasive quantitative measurement of cerebral blood flow in the brain regions without administration of contrast material and without radiation. ASL is thus a promising perfusion imaging method for assessing cerebral blood flow in the pediatric population. Concerning newborns, there are current limitations because of their smaller brain size and lower brain perfusion. This article reviews and illustrates the use of ASL in pediatric clinical practice and discusses emerging cerebral perfusion imaging applications for children due to the highly convenient implementation of the ASL sequence.

Umbilical vein varix: Importance of ante- and post-natal monitoring by ultrasound.

Foetal intra-abdominal umbilical vein varix is rare. Colour Doppler ultrasonography helps distinguish this vascular anomaly. A detailed anatomic scan must be performed to exclude associated anomalies: forms associated with additional complications are found in 29 to 35% of the cases. Intra-uterine foetal demise (IUFD) is a complication of umbilical vein varix. However, recent studies are more reassuring. When foetal intra-abdominal umbilical vein varix is isolated, there is no reason to change the management of the pregnancy. Foetal sonographic follow-up is recommended, focusing on an increase in the size of the varix and the appearance of a clot. A particular clinical form, connecting the umbilicus to the extra-hepatic portal vein should be known, because of a high risk of thrombosis. On the basis of this finding, postnatal monitoring by ultrasound is necessary.

Acute nondilated anuric obstructive nephropathy on echography: difficult diagnosis in the intensive care unit.

Renal echography (RE) is a well recognized, accurate, non-invasive imaging procedure for detecting urinary tract (UT) obstruction in Intensive Care Unit (ICU) patients: a dilated collecting system is usually present but a few cases of nondilated obstructive nephropathy have been previously described. We report the clinical, biological, imaging procedure data and outcome of 6 additional cases of anuric obstructive nephropathy without dilatation on one or more RE. All patients had previous and/or actual history suggestive of UT obstruction. Retrograde ureteropyelography (RUP) was performed in all of them: it provided the diagnosis of obstruction in 4 and was immediately followed by dramatic improvement of renal function in all, including the 2 patients with septic shock from proven or suspected UT origin. The cause of obstruction was a neoplastic retroperitoneal process in 4. We conclude that anuric nondilated obstructive renal failure is not uncommon and should be considered in anuric patients when UT obstruction is likely to occur. The sole visualization of a non-dilated collecting system on RE should lead to repeat RE, especially in hypovolemic anuric patients. RUP provided immediate diagnostic and therapeutic benefits in comparison with other imaging procedures in our series.

[Splenogastrorenal shunt in portal hypertension: a little known entity. Study of 6 cases and review of the literature]. / Le shunt spléno-gastro-rénal dans l'hypertension portale: une entité méconnue. Etude de 6 cas et revue de la littérature.

The authors report 6 cases of portal hypertension with gastrorenal shunt. This shunt did not arise from the left gastric vein, but from the splenic vein. Portal hypertension was related to alcoholic cirrhosis in 3 cases, to extensive portal thrombosis in 2 cases, and to nodular regenerative hyperplasia of the liver in one case. A gastrointestinal hemorrhage revealed portal hypertension and the liver disease in the 3 cases of alcoholic cirrhosis and complicated the course of the disease in the other cases. Hemorrhage was either massive and life-threatening or often recurred. It was related to a rupture of fundic varices in all cases. The fundic varices were not associated with esophageal varices in the 3 cases of cirrhosis. The degree of portal hypertension was above 20 mm Hg, as assessed by the portohepatic gradient (one case), or the pressure gradient between a tributary portal system vein and the inferior vena cava during laparotomy (5 cases). Definitive control of hemorrhage could not be achieved by endoscopic variceal sclerotherapy (2 cases) or percutaneous transhepatic embolization (one case). Portacaval shunt or splenectomy was performed in 5 cases. These findings suggest that spontaneous splenogastrorenal shunt is a clinical and hemodynamic entity which requires specific treatment when associated with gastric variceal bleeding.

[Correlation between hemodynamic parameters of the portal circulation in cirrhotic patients]. / Corrélation entre les paramètres hémodynamiques de la circulation portale chez le cirrhotique.

The aim was to study the relationships between portal hemodynamic parameters in cirrhotic patients. Portal hemodynamics was assessed by scintisplenoportography and sonography, and the measurement of portohepatic gradient. Gradient between wedged and free hepatic venous pressures was 2.71 +/- 0.90 kPa (SD), and extrahepatic shunting was 49 +/- 31 p. 100 (SD) in 27 cirrhotic patients. Intrahepatic shunting was present in 17 p. 100 out of 23 cirrhotics. Portal blood flow was 0.582 +/- 0.196 l/min (SD) and hepatic resistance to portal blood flow was 4.84 +/- 2.62 kPa/l/min (SD). Portal blood flow correlated neither with the pressure gradient, nor with portosystemic shunting. The pressure gradient was significantly correlated with portal systemic shunting (r = 0.64, p less than 0.001). Hepatic resistance to portal blood flow was significantly (p less than 0.05) correlated with portal systemic shunting, however the value of the correlation coefficient was low (r = 0.433). The pressure gradient and portosystemic shunting were higher in patients with large esophageal varices than in those with small ones (respectively t = 2.665, p less than 0.02 and t = 3.00, p less than 0.01). Hemodynamic pattern was not correlated with the degree of hepatocellular failure, as assessed by the Child-Pugh index. In conclusion this study provides further evidence for the forward theory of portal hypertension in human liver cirrhosis.

[Scintigraphy with indium 111-labeled polynuclears: correlation with the extensiveness and activity of cryptogenetic enterocolitis]. / Scintigraphie aux polynucléaires marqués à l'indium 111: corrélation avec l'extension et l'activité des entérocolites cryptogénétiques.

We have studied prospectively the usefulness of indium 111 granulocytes scanning in patients with Crohn's disease and ulcerative colitis. Abdominal scans were performed 1 h, 3 h and 20 h after the injection of a pure autologous granulocyte preparation containing 3.7-5.5 MBq of radioindium. The extent of bowel involvement, evaluated on the 3-hour scan, was compared to the X-rays and endoscopic findings. The disease activity was assessed by the intensity of intestinal radionuclide uptake (IRU), the fecal indium 111 measurement (FIM) after a 4-day fecal collection, the decrease of the hepatic and splenic uptake (DHSU). It was compared to clinical and biological data as CDAI, sedimentation rate, albumin and alpha-2-globulin levels. Thirty-three examinations were performed in 26 patients, 16 with Crohn's disease and 10 with ulcerative colitis. The correlation of disease location between indium scan and other diagnosis procedures was good in 81 p. 100 of cases. CDAI was significantly correlated with radionuclide indexes: IRU, FIM, DHSU. FIM was not significantly different between mild and moderates diseases (respectively 1.5 +/- 1.0 p. 100 and 3.6 +/- 3.2 p. 100), but was different between moderate and moderately severe diseases (respectively 3.6 +/- 3.2 p. 100 and 23.6 +/- 16.7 p. 100, p less than 0.001). DHSU was significantly different between mild and moderate diseases (respectively 10.9 +/- 7.2 p. 100 and 22.5 +/- 10.7 p. 100, p less than 0.05) and between moderate and moderately severe diseases (respectively 22.7 +/- 10.7 and 42.4 +/- 7.3 p. 100, p less than 0.001). The radionuclide activity indexes were significantly correlated between themselves.(ABSTRACT TRUNCATED AT 250 WORDS)

[Endoscopic treatment and extracorporeal lithotripsy in chronic calcifying pancreatitis. Preliminary results in 16 patients]. / Traitement endoscopiquie et lithotritie extra-corporelle au cours de la pancréatite chronique calcifiante. Résultats préliminaires chez 16 patients.

UNLABELLED: A new therapeutic approach has been recently proposed in the management of chronic pancreatitis, including pancreatic endoscopic papillotomy and extracorporeal shock wave lithotripsy. The aim of this study was to assess the feasibility and the short--and long-term results of these procedures in a series of 16 patients aged 48.9 +/- 14 years. The indication for endoscopic treatment was pain in 15 cases and steatorrhea in one case. Pancreatic duct abnormalities included main pancreatic duct stenosis with calculi (9 cases), communicating pseudocysts upstream to a ductal stenosis or obstruction by calculi (4 cases), and isolated calculi (4 cases). Clinical response and morphologic parameters were used for analysis. Mean follow-up was 18.6 months (3.5 months to 7 years). RESULTS: a) pancreatic endoscopic papillotomy, stents placement, and extracorporeal shock wave lithotripsy were successfully performed in 15 out of 16 cases, 1 out of 4 cases and 8 out of 8 cases, respectively; b) symptomatic improvement was observed in 11 of 15 patients with painful pancreatitis as relief was complete in 8, and partial in 3 cases. Pain relapse occurred in these latter 3 patients 4, 18 and 48 months after treatment; diabetes mellitus remained unchanged in all cases; c) diameter of the main pancreatic duct and pancreatic calcifications decreased in 8 of 15 cases and in 10 of 15 cases, respectively; pseudocyst disappeared in 2 of 4 cases; clinical improvement was significantly correlated with pancreatic morphology improvement. Clinical relapse was associated with calculi recurrence in every case. No complication was observed. Endoscopic papillotomy and extracorporeal shock wave lithotripsy are feasible in most cases of chronic pancreatitis. Relief of pain is obtained rapidly after treatment and seems to be correlated with the quality of pancreatic drainage.

Relationship between gastric mucosal changes and hemodynamic patterns in alcoholic cirrhosis. A prospective study.

Most gastric mucosal changes in cirrhosis are thought to be related to vasculopathy. The aim of this study was to determine whether there was a relationship between gastric mucosal changes and hemodynamic in cirrhosis. Thirty patients with alcoholic cirrhosis were divided into four groups: no congestive gastropathy (n = 6), mild congestive gastropathy type 1 (discrete mosaic pattern) (n = 9), mild congestive gastropathy type 2 (obvious mosaic pattern) (n = 9), and severe congestive gastropathy (n = 6). The four groups did not significantly differ with respect to clinical and biochemical data, degree of hepatic dysfunction, or endoscopic signs of portal hypertension. A hyperdynamic circulatory syndrome was observed in most patients, but tended to be more pronounced in patients with severe congestive gastropathy and mild congestive gastropathy type 2 as compared to patients with normal mucosa, or mild congestive gastropathy type 1. Systemic vascular resistance was found to be significantly lower in high-grade patients (mild congestive gastropathy type 2 + severe congestive gastropathy, n = 15) as compared with low-grade patients (no congestive gastropathy + mild congestive gastropathy type 1, n = 15) (736 +/- 267 vs 1,046 +/- 403 dyne.s.cm-5, P = 0.02). Neither splanchnic hemodynamics as assessed by the degree of portal hypertension (hepatic venous pressure gradient) and superior mesenteric artery vascular resistance (Doppler measurement of the pulsatility index) catecholamines or glucagon serum levels differed significantly between the four groups.(ABSTRACT TRUNCATED AT 250 WORDS)

[Electronic imaging with photo-realistic rendering for neuroanatomy teaching. Methods and preliminary results]. / Imagerie électronique en rendu photo-réaliste pour l'enseignement de la Neuro-anatomie. Méthodes et résultats.

Advances in software, networking, and imaging technology provide a unique opportunity for developing information systems in anatomy that can deliver relevant knowledge to the clinicians, researchers, educators, and students. Recent software tools initially produced for graphic imaging are now available in the medical graphic design field. The authors describe an original method they used to create electronic images of the central nervous system and its coverings with photo-realistic rendering. They present preliminary results and discuss the potential of this new technique as a teaching tool for neuroanatomy.

[Extrapulmonary mycobacterial infection with multiple cold abscesses]. / Infection extrapulmonaire à mycobactéries avec abcès froids multiples.

We report one case of extrapulmonary mycobacterial infection, in the absence of HIV infection, singular by a clinical presentation simulating a tumor, associating a bulky intrahepatic mass, an abscess of the psoas, multiple intracerebral lesions, and an obstructive intracardiac mass of the right ventricle, which required a surgical resection. We comment the type of the mycobacterium involved and the hepatic and cardiac localisations, since macronodular hepatic abscesses are rare, and cardiac abcesses, exceptional.

[X-ray computerised tomographic diagnosis of false aneurysm of the gastroduodenal artery complicating chronic pancreatitis]. / Diagnostic tomodensitométrique d'un faux anévrysme de l'artère gastro-duodénale compliquant une pancréatite chronique.

Pseudoaneurysm formation is a serious complication of pancreatitis. The authors, in reference to a case, emphasize the value of computed tomography in the early diagnosis of this complication.

[Radiologic aspects of a case of Waldmann's disease]. / Aspects radiologiques d'un cas de maladie de Waldmann.

The Waldmann's disease or intestinal lymphangiectasia is a rare disease. We observed a case which occurred in a 14 years old boy. The disease was discovered in the screening of an intermittent diarrhea. The diagnosis was suspected on biological signs of protein-losing enteropathy and the presence of lymphangiectasias seen during endoscopy. The lymphography was conclusive showing the abnormal opacification of the mesenteric region. The other examinations were also important to assert the idiopathic origin of the disease.

[Lipiodolized angiography in hepatocellular carcinomas. Contribution of iodine-131-labelled lipiodol]. / L'angiographie lipiodolée au cours des carcinomes hépato-cellulaires. Apport du lipiodol marqué à l'iode 131.

Twelve patients with hepatocellular carcinoma and cirrhosis were investigated by Lipiodol injection into the hepatic artery. A CT scan was done 4-6 days later. Lipiodol was retained by hepatic tumors in each case. This method emphasized the extension of the carcinoma and allowed to discover daughter tumors. I131-lipiodol was also injected in 4 of the 12 patients and then its biodistribution was evaluated. At the 6th hour after injection, I131-lipiodol was detected by scintigraphy over the liver (74-91 percent) and over the lungs (9-16 percent) only. The tumor to normal liver pixel count ratio was about 5. These results indicate that there is a preferential arterial blood flow towards the hepatic tumors, and that we can consider a therapeutic use of I131-Lipiodol in hepatocellular-carcinoma.

[Primary double infected aneurysm of upper limb (author's transl)]. / Double anévrysme artériel infectieux primaire du membre supérieur.

The authors report a rare and striking case of primary double infected aneurysm of the left upper limb successfully treated by resection and obliterative endoaneurysmorrhaphy. This opportunity is taken to review the particular physiopathological, anatomical, diagnostic and therapeutic characteristics of this particularly grave type of aneurysm.

[Testicular microlithiasis: ultrasonographic diagnosis and semiologic value]. / Microlithiases testiculaires: diagnostic échographique et valeur sémiologique.

Testicular microlithiasis corresponds to calcifications in the lumen of seminiferous tubules. This rare condition, primarily diagnosed histologically, is usually discovered on scrotal ultrasonography. The characteristic appearance combines multiple microscopic hyperechoic areas disseminated bilaterally throughout the testicular parenchyma. The coexistence of microlithiasis and testicular neoplasms has been described and raises the problem of the therapeutic approach following incidental discovery on scrotal ultrasonography performed for other reasons. The authors report a case of testicular microlithiasis discovered on ultrasonography performed after testicular trauma.

Idiopathic club foot treated with the Ponseti method. Clinical and sonographic evaluation of Achilles tendon tenotomy. A review of 221 club feet.

The Ponseti method applied to treating idiopathic club foot consists in placing successive corrective casts, possibly an Achilles tendon tenotomy, then derotation braces, a method that has proven its efficacy. This study compared 221 cases of club foot treated with this method between 2002 and 2007 divided into two groups, based on whether or not Achilles tendon tenotomy was performed. Assessment was both clinical and sonographic. We observed clear improvement of the results in the group that underwent Achilles tendon tenotomy and a significant difference in the rate of secondary surgery. The sonographic evaluation also showed improvement of the morphological results. We now systematically propose Achilles tendon tenotomy however severe club foot may be.