Where to look for the genes related to diaphragmatic hernia?

Analysis of approximately 150 published observations of diaphragmatic hernia (DH) in persons with structural autosomal imbalance showed several segments where DH-related genes may be found. Occurrence of DH in several patients with deletions 15q26, 8p23, 8q22, 4p16, 1q42, and 3q22 allows to propose that these segments harbor the genes which, when deleted (or truncated) may be responsible for DH. Segments 22q11, 4q28.3q32, 1q25q31.2 and 2p23p25 are good candidates for the location of genes which cause DH in trisomic condition. The genetic mechanisms of DH in tetrasomy 12p are not clear, although more than 50 cases of DH have been reported in this syndrome. Frequent coexistence of congenital heart defects and DH in some syndromes (and rarity of this association in some others) may suggest the different pathways of the DH's origin.     

Should we expect population thresholds for wildlife disease?

Host population thresholds for the invasion or persistence of infectious disease are core concepts of disease ecology and underlie disease control policies based on culling and vaccination. However, empirical evidence for these thresholds in wildlife populations has been sparse, although recent studies have begun to address this gap. Here, we review the theoretical bases and empirical evidence for disease thresholds in wildlife. We see that, by their nature, these thresholds are rarely abrupt and always difficult to measure, and important facets of wildlife ecology are neglected by current theories. Empirical studies seeking to identify disease thresholds in wildlife encounter recurring obstacles of small sample sizes and confounding factors. Disease control policies based solely on threshold targets are rarely warranted, but management to reduce abundance of susceptible hosts can be effective.     

Should colonoscopy be the first investigation for colonic disease?

Many patients with suspected colonic disease undergo rigid sigmoidoscopy, barium enema examination, and ultimately total colonoscopy, but the need for preliminary radiology has not been formally assessed. A total of 168 patients requiring large bowel investigation were therefore randomised to undergo either rigid sigmoidoscopy plus double contrast barium enema examination or total colonoscopy. Disease was found in 56 patients, including 14 with a carcinoma, 11 with polyps, and 16 with inflammatory bowel disease, the remainder having diverticular disease alone. Of the 89 patients allocated to double contrast barium enema examination, nine required a subsequent colonoscopy for suspected tumour or polyps, three because of incomplete radiological examination, and 12 for rectal bleeding for which no cause was found at the radiological examination. In 16 patients this yielded further information or altered treatment. Of the 79 patients undergoing total colonoscopy, only six required subsequent radiology.As both procedures were well tolerated with no major complications total colonoscopy may be the preferred initial investigation where facilities allow.     

Should patients positive for HIV infection receive pneumococcal vaccine?

Pneumococcal vaccination effectively reduces the incidence of invasive pneumococcal disease in normal subjects. Such invasive pneumococcal disease is 100 times more common in patients with HIV infection than in healthy people, so it seems logical to target this group of patients for vaccination. Few clinics routinely vaccinate patients positive for HIV, despite Department of Health guidelines. This is because of uncertainty about the vaccine''s efficacy in HIV disease. There are many reasons to suspect that the vaccine will fail to protect these patients, including the fact that antibodies alone may not be sufficient protection against all serogroups of Pneumococcus and the vaccine works in healthy people but not immunocompromised subjects. Vaccination of HIV positive patients may not be indicated, at least for the time being. The cost of vaccinating such patients in the absence of data showing efficacy may well be less than the cost of a necessarily large and lengthy trial. But the truth must be sought to end current indecision.     

Should edentulous patients be constrained to removable complete dentures? The use of dental implants to improve the quality of life for edentulous patients

doi:10.1111/j.1741‐2358.2009.00294.x
Should edentulous patients be constrained to removable complete dentures? The use of dental implants to improve the quality of life for edentulous patients Background: Nowadays, there is some speculation among dental educators that the need for complete dentures will significantly decrease in the future and that training in their provision should be removed from the dental curriculum. Objective: To sensitise the reader to the functional shortcomings of complete denture therapy in the edentulous patient and present restorative options including implants to improve edentulous quality of life in these patients. Methods: Information retrieval followed a systematic approach using PubMed. English articles published from 1964 to 2008, in which the masticatory performance of patients with implant‐supported dentures was assessed by objective methods and compared with performance with conventional dentures, were included. Results: National epidemiological survey data suggested that the adult population in need of one or two complete dentures will increase from 35.4 million adults in 2000 to 37.9 million adults in 2020. Clinical studies have showed that the ratings of general satisfaction were significantly better in the patients treated with implant overdentures post‐delivery compared with the complete denture users. In addition, the implant group gave significantly higher ratings on comfort, stability and ability to chew. Furthermore, patients who received mandibular implant overdentures had significantly fewer oral health‐related quality of life problems than did the conventional group. Conclusion: Implant‐supported dentures including either complete overdentures or a hybrid prosthesis significantly improve the quality of life for edentulous patients compared with conventional removable complete dentures. Therefore, the contemporary dental practitioner should consider other options as well as conventional removable complete dentures to restore edentulous patients.     

What happened to VIM thalamotomy for Parkinson's disease?

A prospective review of 75 of 190 parkinsonian patients undergoing unilateral thalamotomy was displayed with a computer graphics technique examining three equal consecutive groups from the pre-, early, and late L-dopa eras. Histograms for average function and scattergrams of individual patient's performance preoperatively and up to 2 years postoperatively were prepared. No ipsilateral effects or consistent iatrogenic deterioration of any function were identified. 2 years after surgery, 82% had no tremor in the contralateral fingers or hand and 7% had almost no tremor; contralateral tremor elsewhere was infrequent. Rigidity and manual dexterity improved less strikingly, the latter only reflecting abolition of tremor; locomotion, speech, facial movement and handwriting did not improve. There was no mortality, but 8% had persistent significant complications. VIM thalamotomy remains the treatment of choice for severe drug-resistant parkinsonian tremor.     

Is it ethical for patients with renal disease to purchase kidneys from the world's poor?

BACKGROUND TO THE DEBATE: In many countries, the number of patients waiting for a kidney transplant is increasing. But there is a widespread and serious shortage of kidneys for transplantation, a shortage that can lead to suffering and death. One approach to tackling the shortage is for a patient with renal disease to buy a kidney from a living donor, who is often in a developing country, a sale that could--in theory at least--help to lift the donor out of poverty. Such kidney sales are almost universally illegal. Proponents of kidney sales argue that since the practice is widespread, it would be safer to formally regulate it, and that society should respect people's autonomous control over their bodies. Critics express concern about the potential for exploitation and coercion of the poor, and about the psychological and physical after-effects on the donors of this illegal kidney trade.