Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases

Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2 ganglioside by beta-hexosaminidase A (Hex A) due to mutations of the alpha subunit (Tay-Sachs disease) or beta subunit (Sandhoff disease) of Hex A. Hex B (beta beta homodimer) is also defective in Sandhoff disease. We previously developed mouse models of both diseases and showed that Hexa-/- (Tay-Sachs) mice remain asymptomatic to at least 1 year of age while Hexb-/- (Sandhoff) mice succumb to a profound neurodegenerative disease by 4-6 months of age. Here we find that neuron death in Hexb-/- mice is associated with apoptosis occurring throughout the CNS, while Hexa-/- mice were minimally involved at the same age. Studies of autopsy samples of brain and spinal cord from human Tay-Sachs and Sandhoff diseases revealed apoptosis in both instances, in keeping with the severe expression of both diseases. We suggest that neuron death is caused by unscheduled apoptosis, implicating accumulated GM2 ganglioside or a derivative in triggering of the apoptotic cascade.      

Mechanisms of enhanced prevalence of asthma and atopy in developed countries

Atopy — a T helper 2 cell driven hypersensitivity to innocuous antigens (allergens) which causes most cases of asthma — is of complex genetic and environmental origins. There is compelling epidemiological evidence for a rise in atopic disease in ‘westernised’ communities. The changing pattern of microbial exposure in early childhood is suggested to be the principal candidate mechanism for this rise.     

The salivary microbiota as a diagnostic indicator of oral cancer: A descriptive,non-randomized study of cancer-free and oral squamous cell carcinoma subjects

Background  

The purpose of the present investigation was to determine if the salivary counts of 40 common oral bacteria in subjects with an oral squamous cell carcinoma (OSCC) lesion would differ from those found in cancer-free (OSCC-free) controls.     

Anatomic bases for liver transplantation

Summary This study gathers the anatomic implications for a good liver transplantation. During hepatic removal a left hepatic a.exists in 20% of cases; a right hepatic artery originating from the superior mesenteric a. (SMA) can be the only arterial supply in 9% of cases; the whole lesser omentum has to be removed and the SMA from 6 cm to its origin. The SMA must be freed from the celiac ganglia and its ostium removed with the celiac trunk in an aortic patch cut on the anterior side in order to avoid the renal ostia. During total hepatectomy, dissection of the portal triad is often difficult because of portal hypertension dilating accessory portal veins (parabiliary arcade) and pedicular lymphatics. Nerve plexuses are thick in front of the hepatic artery or behind the portal triad. Transection of triangular ligaments leads to the retrohepatic inferior vena cava (IVC) that must be freed from its posterior tributaries (right suprarenal vein and inferior phrenic veins flowing either into the IVC or into the hepatic veins). One big problem during hepatic replacement is the biliary anastomosis which must be well irrigated. In the recipient, dissection up to the hilum preserves hepatic and pancreatico-duodenal pedicles. The biliary tract of the graft must be cut low, behind the pancreas, and several centimeters of the gastroduodenal artery must be preserved to save hepatic and gastroduodenal pedicles.

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Bases anatomiques de la transplantation hépatique

Résumé Ce travail rassemble les notions anatomiques nécessaires au bon déroulement d'une transplantation hépatique. Le prélèvement du greffon doit enlever tout le petit omentum contenant une éventuelle a. hépatique gauche née de l'a. gastrique gauche (20%) et emporter l'a. mésentérique supérieure jusqu'à 6 cm de son origine pour ne pas oublier une a. hépatique droite née de cette dernière: son ostium est pris avec le tronc clique dans un patch aortique découpé sur la face antérieure. Lors de l'hépatectomie totale, la dissection du pédicule hépatique est rendue délicate par l'hypertension portale qui dilate les veines portes diets accessoires (arcade parabiliaire) et les lymphatiques pédiculaires. Les plexus nerveux sont riches devant l'artère hépatique et derrière le pédicule. La section des ligaments triangulaires droit et gauche amène à la veine cave inférieure (VCI) rétro-hépatique qu'il faut libérer de ses afférences postérieures (en particulier la veine surrénale principale droite toujours haut située et les veines phréniques inférieures qui s'abouchent soit dans la VCI soit dans les veines hépatiques du carrefour). Lors du remplacement, l'anastomose biliaire doit être vascularisée. Chez le receveur la dissection jusqu'au hile permet de conserver les pédicules. La voie biliaire du greffon doit être coupée bas derrière le pancréas et les premiers centimètres de l'artère gastro-duodénale conservés pour préserver les pédicules hépatique et pancréaticoduodénal.

     

Contribution to the study of the tributaries and the termination of the external jugular vein

Summary The dissection of 100 external jugular veins in 50 cadavers was the object of this anatomic study. A certain number of notions concerning the afferent veins, the mode of termination and the valvular system of this vessel were defined. 1)Afferent veins. Along its pathway toward the deep venous system, the external jugular vein successively received: the transverse cervical vein in 88 cases (88%), usually opposite the intersection of the external jugular vein with the dorsal border of the sterno- cleidomastoid muscle; the suprascapular vein in 47 cases (47%); the anterior jugular vein in 46 cases (46%); the cervical vein or anastomosis with the latter in 13 cases (13%). 2)Mode of termination. Forty-three subjects presented a symmetric mechanism. 100 anastomoses can be classed into three types: in 60 cases (60%), the external jugular vein flowed into the jugulo-subclavian venous confluence; in 36 cases (36%), in to the subclavian vein at a distance from its junction with the internal jugular vein; in 4 cases (4%) in to the trunk of the internal jugular vein. 3)Study of the valves. There were studied in 25 subjects (50 external jugular veins). The valves were found in the ostial and paraostial position in 49 out of 50 veins.

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Contribution à l'étude des afférences et de la terminaison de la veine jugulaire externe

Résumé Cette étude anatomique repose sur la dissection de 100 vv. jugulaires externes chez 50 cadavres. Elle a permis de préciser un certain nombre de notions concernant les veines afférentes, le mode de terminaison et le système valvulaire de ce vaisseau. 1)Veines afférentes. Le long de son trajet vers le sytème veineux profond, la v. jugulaire externe reçoit successivement: la v. cervicale transverse dans 88 cas (88 %), habituellement en regard du croisement de la v. jugulaire externe avec le bord dorsal du m. sterno-cléido-mastoïdien ; la v. supra-scapulaire dans 47 cas (47 %); la v. jugulaire antérieure dans 46 cas (46 %) ; la v. céphalique ou une anastomose avec celle-ci dans 13 cas (13 %). 2)Mode de terminaison. Quarante trois sujets présentent un dispositif symétrique. Les 100 abouchements peuvent être classés en trois types : dans 60 cas (60 %) la v. jugulaire externe se déverse dans le confluent veineux jugulo-subclavier ; dans 36 cas (36 %), dans la v. subclavière à distance de sa réunion avec la v. jugulaire interne ; dans 4 cas (4 %) dans le tronc de la v. jugulaire interne. 3)Etude des valvules. Recherchées chez 25 sujets (50 vv. jugulaires externes), les valvules ont été retrouvées dans 49 cas sur 50 en position ostiale ou paraostiale.

     

The ileoanal J pouch: radiographic evaluation

Endorectal ileoanal pull-through offers an attractive alternative to proctocolectomy and ileostomy for patients with ulcerative colitis, Gardner syndrome, and familial polyposis. To our knowledge, a careful radiographic analysis of the ileum, ileal pouch, and ileoanal anastomosis after ileoanal pull-through has not been reported. Thirty-two patients with ulcerative colitis, Gardner syndrome, and familial polyposis underwent colectomy, mucosal proctectomy, and endorectal ileoanal pull-through of a 15-cm ileal "J" pouch and loop ileostomy. Twenty-five (78%) of 32 of all the pouches radiographically demonstrated spiral folds extending from the middle of the pouch to the pectinate line. Other radiographic features included a mesenteric mass effect, pseudopolyps, and a central lucency that indicated intrapouch sutures. Radiographs provide useful information in the postoperative management of the ileal pull-through.     

Urodynamic Evaluation in Simultaneous Insulin-Dependent Diabetes Mellitus and End Stage Renal Disease

Purpose

We evaluated the urodynamic changes produced by insulin-dependent diabetes mellitus with end stage renal disease.

Materials and Methods

A urodynamic evaluation was performed on 51 young patients (mean age plus or minus standard deviation 35 plus/minus 6 years) with long-term diabetes mellitus (average 21 plus/minus 6 years) and end stage renal disease (86 percent on dialysis).

Results

The urodynamic study was abnormal in 84 percent of the patients. The bladder was hypersensitive in 39 percent and hyposensitive in 30 percent of the cases, and maximum vesical capacity was greater than 600 ml. in 33 percent. An acontractile detrusor was noted in 6 percent of the patients, while 4 percent had detrusor hyperreflexia and 35 percent had bladder outlet obstruction.

Conclusions

A high frequency of vesical alterations was observed, which were modified by association of progressive vesical dysfunction and diabetes mellitus. In diabetes mellitus dialysis protects against detrusor hypocontractility but predisposes the patients to have bladder obstruction.