A new integrative weaning index of discontinuation from mechanical ventilation

Introduction  

Indexes predicting weaning outcome are frequently inaccurate. We developed a new integrative weaning index aimed at improving the accuracy of the traditional indexes.     

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation

Desmoid tumours are generally very rare but occur about 100 times more frequently in the colorectal cancer predisposition syndrome familial adenomatous polyposis (MIM 175100), being represented in about 10% of patients. In addition to desmoid disease occurring in familial adenomatous polyposis (FAP) there exist familial infiltrative fibromatosis (MIM 135290) kindreds where there is no evidence of FAP. Previously we have described a kindred with familial infiltrative fibromatosis (FIF) in which desmoid tumours were associated with nonpolyposis colorectal cancer. FAP is caused by mutations in the APC gene and various genotype-phenotype relationships have been defined including reports that colorectal polyposis is less severe with mutations 5' to codon 157 and that the risk of desmoid tumours is high in FAP patients with APC gene mutations between codons 1444 and 1598. There is relatively little information on the phenotype of APC gene mutations 3' to codon 1598; however, one large family has been reported with a mutation at codon 1987 which presents with a highly variable phenotype which includes desmoid disease. We screened our original FIF kindred and three further families with a similar phenotype for mutations in the APC gene. A 4 bp frameshift deletion in codon 1962 was identified in the original FIF kindred and two further apparently unrelated families. Haplotype analysis suggests a common origin for the APC mutation in all three families. Affected individuals had no evidence of congenital hypertrophy of the retinal pigment epithelium. Colorectal polyposis was variable, and most affected patients had either none or a few late onset polyps. These findings demonstrate (i) that FAP and FIF are allelic, and (ii) that APC gene mutations which truncate the APC protein distal to the beta-catenin binding domain are associated with desmoid tumours, absent CHRPE and variable but attenuated polyposis expression.      

Bitemporal Scalp,Lip and Tongue Necrosis in Giant Cell Arteritis: A Rare Presentation

A 74-year-old man was presented with fever, bilateral throbbing temporoparietal headache, jaw claudication, and bilateral loss of vision. On examination, he had bilateral scalp necrosis with impending necrosis of lip and tongue. Temporal artery biopsy was done, and it was compatible with active temporal arteritis. This is one of the rare presentations of giant cell arteritis where there is simultaneous necrosis of scalp, lip, and tongue, and to the best of our knowledge, it is the first case reported from India.     

Oral manifestations of inflammatory bowel disease: a review based on the observation of six cases

Inflammatory bowel disease (IBD) comprises two chronic, tissue‐destructive, clinical entities: Crohn's disease (CD) and ulcerative colitis (UC), both immunologically based. Bowel symptoms are predominant, but extra‐intestinal complications may occur, including involvement of the oral cavity. Oral involvement during IBD includes several types of lesions: the most common are aphthae; uncommon lesions include, among others, pyostomatitis vegetans and granulomatous lesions of CD. Starting with a presentation of six patients with oral manifestations, which were crucial for the final diagnosis of IBD, a review on the subject is presented. Oral involvement in IBD may be previous or simultaneous to the gastrointestinal symptoms. However, in the majority of cases, bowel disease precedes the onset of oral lesions by months or years. In many patients, the intestinal symptoms may be minimal and can go undetected; thus, most authors believe that the bowel must be thoroughly examined in all patients with suspected IBD even in the absence of specific symptoms. Usually, the clinical course of oral lesions is parallel to the activity of IBD; therefore, oral manifestations are a good cutaneous marker of IBD.     

Blood component therapy during the neonatal period: a national survey of red cell transfusion practice, 1985

A questionnaire to determine patterns of neonatal red cell transfusion practice during 1985 was mailed to 2200 blood banks of American Association of Blood Banks (AABB) institutional members and children's hospitals. There were 915 responses (41.6%); 785 responses (86%) contained sufficient data for analysis. The majority (70.6%) of 785 responding hospitals were community/urban institutions. However, more highly specialized, pediatric hospitals were also represented by 92 university/tertiary-care hospitals (11.7% of respondents) and 29 children's hospitals (3.7% of respondents). Two-thirds of hospitals performed a major antiglobulin crossmatch (rather than an abbreviated one) before all neonatal red cell transfusions. The red cell preparation most frequently selected for small-volume transfusions was ABO and Rh group-specific red cell concentrates. When performing only large-volume exchange transfusions, 19.2 percent of hospitals used whole blood; all others prepared reconstituted units of red cells plus fresh-frozen plasma, a practice that frequently causes exposure to two donors per unit. Another practice likely leading to multiple donor exposure is the use of fresh-frozen plasma to adjust the hematocrit of red cell preparations to a predetermined value prior to a small-volume transfusion. Over one-half of hospitals adjusting hematocrits used plasma, presumably from one donor, to dilute packed red cells from another donor, a practice that has no apparent medical benefit. Most hospitals (63.4%) provided red cells with a reduced risk of transmitting cytomegalovirus; blood from seronegative donors was selected by 65 percent of hospitals. The majority of hospitals, including most of the community/urban hospitals, did not irradiate blood products before transfusion.(ABSTRACT TRUNCATED AT 250 WORDS)