Clinical and imaging correlations of Treacher Collins syndrome: report of two cases.

Mandibulofacial dysostosis (Treacher Collins Syndrome) is an autosomal dominant genetic disorder that probably derives from inhibition of the facial structures from the first and second branchial arches. The facial pattern of the syndrome is a convex facial profile with a prominent nose above a retruded chin. The eyes are deformed by antimongoloid slant of the palpebral fissures and facial bones are hypoplastic. The alterations are caused by mutation in gene 5q32-33.1, which encodes the nucleolar phosphoprotein treacle. Computed tomography images are able to demonstrate craniofacial bones, allowing the morphological analysis of these bones in individuals with complex deformities. The purpose of this paper is to present the results of a clinical and computed tomography investigation of two patients with Treacher Collins syndrome.     

Transient Brain Ischaemia Provokes Ca2+, PIP2 and Calpain Responses Prior to Delayed Neuronal Death in Monkeys

To clarify the mechanism of postischaemic delayed cornu Ammonis (CA)-1 neuronal death, we studied correlations among calpain activation and its subcellular localization, the immunoreactivity of phosphatidylinositol 4,5-bisphosphate (PIP₂) and Ca²⁺ mobilization in the monkey hippocampus by two independent experimental approaches: in vivo transient brain ischaemia and in vitro hypoxia-hypoglycaemia of hippocampal acute slices. The CA-1 sector undergoing 20 min of ischaemia in vivo showed microscopically a small number of neuronal deaths on day 1 and almost global neuronal loss on day 5 after ischaemia. Immediately after ischaemia, CA-1 neurons ultrastructurally showed vacuolation and/or disruption of the lysosomes. Western blotting using antibodies against inactivated or activated μ-calpain demonstrated μ-calpain activation specifically in the CA-1 sector immediately after ischaemia. This finding was confirmed in the perikarya of CA-1 neurons by immunohistochemistry. CA-1 neurons on day 1 showed sustained activation of μ-calpain, and increased immunostaining for inactivated and activated forms of μ- and m-calpains and for PIP₂. Activated μ-calpain and PIP₂ were found to be localized at the vacuolated lysosomal membrane or endoplasmic reticulum and mitochondrial membrane respectively, by immunoelectron microscopy. Calcium imaging data using hippocampal acute slices showed that hypoxia-hypoglycaemia in vitro provoked intense Ca²⁺ mobilization with increased PIP₂ immunostaining specifically in CA-1 neurons. These data suggest that transient brain ischaemia increases intracellular Ca²⁺ and PIP₂ breakdown, which will activate calpain proteolytic activity. Therefore, we suggest that activated calpain at the lysosomal membrane, with the possible release of biodegrading enzyme, will cause postischaemic CA-1 neuronal death.     

Resection of lung metastases from soft-tissue sarcomas. A multivariate analysis.

From 1970 through 1986, 78 patients underwent 162 thoracotomies for removal of lung metastases from soft-tissue sarcomas. A multivariate analysis showed that the presence of a local recurrence, an incomplete pulmonary resection, and a shorter disease-free interval were poor prognostic factors. Patients who underwent multiple thoracotomies survived longer from the time of initial thoracotomy. The histologic type of sarcoma and the number of metastases resected showed no statistical significance. The median survival of the 61 patients who had a complete resection was 21 months. Patients with five or fewer metastases resected had an overall 5-year survival of 22% compared with 21% for patients who had six or more metastases resected. However, patients with five or fewer metastases showed a trend toward a higher 10-year disease-free survival. A complete resection of pulmonary metastases from soft-tissue sarcoma can prolong survival even if multiple metastases are present, although patients with fewer metastases may have a longer disease-free survival.     

Intraoperative packing of a pancreatic pseudocyst complicated with bleeding pseudoaneurysm

Hemosuccus pancreaticus (HP) is a rare cause of gastrointestinal bleeding, usually due to rupture of a visceral artery aneurysm in chronic pancreatitis. Other causes of HP are rare. We present a case of HP which occurred in a patient with chronic calcifying pancreatitis and a pancreatic pseudocyst documented by ultrasonography and computed tomography. With detectable fresh blood in the descending duodenum, an aneurysm in the pancreatic head was revealed by superior mesenteric angiography as the suspected origin of intermittent bleeding from the pancreatic duct. Because an artery feeding the pseudocyst could not be identified, angiographic embolization was not possible. Surgical resection or ligation was difficult by laparotomy; therefore, intraoperative packing of the pseudocyst with absorbable gelatin sponges was achieved via a cannula through a directly punctured site in the pseudocyst wall. The patient has been followed for 4.25 years with no further episodes of HP. It is possible that the packing of a pancreatic pseudocyst with gelatin sponges is a method that can be used in similar cases, where control of hemostasis is the primary concern. The packing of a pancreatic pseudocyst with gelatin sponges is a technique that can be performed not only via laparotomy but also via laparoscopy or concomitant angiography and ultrasonography.     

Regeneration of periodontal ligament and cementum by BMP-applied tissue engineering

Previously, we demonstrated that the inductive properties of bone morphogenetic protein (BMP) highly depend on the nature of the carrier material used for implantation. In this paper, we show that administration of BMP incorporated in a fibrous collagen membrane can help to regenerate periodontal ligament and cementum both in cat canines and in monkey molars. The partially purified bovine BMP was combined with one or two layers of a fibrous collagen membrane. Although the single layer approach showed partial regeneration of periodontal defects, it also quite often led to ankylosis. The double layer technique in artificially prepared class III furcation defects in monkey molars gave favorable results. After 12 wk, not only the alveolar process but also the periodontal ligament and cementum had regenerated along the entire treated dentin surface. Collagen fibers were arranged more or less perpendicular to the surface of the new cementum. Ankylosis was not seen. It is concluded that the double-layer approach is superior to the single-layer technique in regenerating cementum.     

Bis(cyclopentadienyl)zirconium dichloride supported on zeolites for ethylene polymerization

Y zeolites with different sodium contents and a sodium mordenite were evaluated as support for bis(cyclopentadienyl)zirconium dichloride as catalyst for ethylene polymerization. The results showed that, although the activities of the supported catalysts were lower than that of the homogeneous system, the average molecular weight of the polyethylene produced from the former was in general much higher than that of the polymer produced in solution. Contrary to the expected trend if the specific area was the dominant factor for catalyst activity, the best catalyst was the one supported on NaM zeolite. Thus, our results indicate that the concentration of framework aluminium atoms is the dominant factor, but that the contribution of the external surface is also important.     

Inhibition of BMP-induced ectopic bone formation by an antiangiogenic agent (epigallocatechin 3-gallate)

Epigallocatechin 3-gallate (EGCG), which is one of the components of green tea, was recently shown to inhibit endothelial cell growth in vitro and angiogenesis in vivo [5]. We have previously shown that bone and cartilage formation by bone morphogenetic protein (BMP) is highly dependent on the geometry of the carrier (vasculature-inducing or -inhibiting geometry [2]. To verify the function of angiogenesis in the BMP induction system, we examine in this article whether inhibition of angiogenesis enhances chondrogenesis and suppresses osteogenesis. Fibrous glass membrane used as a BMP carrier was mixed with 1.2 micrograms rhBMP-2 and 1-10 micrograms of EGCG and was implanted into rats subcutaneously. As the dose of EGCG increased, alkaline phosphatase activity and calcium content were decreased, whereas the type II collagen content was increased. The results clearly indicated that inhibition of vascularization enhanced chondrogenesis and suppressed osteogenesis.     

The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive peripheral neuropathy reported in several Algerian families. The gene locus of this disease has been narrowed to 5q31-33. Recently, a missense mutation in the gene for the kinesin superfamily KIF1B was reported as the cause of Charcot Marie Tooth disease type 2A (CMT2A). We suspected that Rab6KIFL, one of the kinesin superfamily proteins, might be involved in the pathophysiology of CMT4C, because Rab6KIFL gene is located in 5q31. The coding regions of the Rab6KIFL gene of genomic DNA derived from one Algerian family with CMT4C were analyzed by direct sequencing. No mutation in Rab6KIFL gene was found in this family. Further investigation is necessary to identify the causative gene for CMT4C.     

Group‐specific component (GC) in curiaú and pacoval,two african‐derived brazilian populations

The group‐specific component (GC) system is of interest in anthropological genetic studies because the distribution of its subtypes distinguishes among major ethnic groups. The GC system was analyzed in Curiaú and Pacoval, two remnant Quilombo populations (African‐derived populations) from the Brazilian Amazon. There was no significant statistical difference in allelic frequencies between the two populations or between them and three other African‐derived Brazilian populations (Mimbó, Sítio Velho, and Gaucinha in Northeastern Brazil). These populations share similarities among themselves and with African populations (high frequencies of GC*1F and lower frequencies of GC*1S), which may reflect the influence of a high level of African contribution to their formation, but there is a clear difference between them and Europeans and South American Indians. It is suggested that the GC system is a useful marker for studying relationships between single populations and major ethnic groups, but does not discriminate between populations which share the same parental stock. Am. J. Hum. Biol. 13:718–720, 2001. © 2001 Wiley‐Liss, Inc.