Comparison and validation of scoring systems in a cohort of patients treated for perforated peptic ulcer

Background and aims The aim of this study is to evaluate the predictive accuracy of different scoring systems on surgery for perforated peptic ulcer referred to an academic department of general surgery in a tertiary reference center. Patients and methods Seventy-five consecutive patients (Male/female ratio = 64:11; mean age, 44 years; range, 16–85) with perforated peptic ulcer disease were investigated. Disease severity scores and mortality predictions were calculated using the collected data during admission. Discrimination and calibration characteristics of each system, namely, the acute physiology and chronic health evaluation II and III, the simplified acute physiology score II, and the mortality probability models (MPM) II, were determined by using the area under receiver operating characteristics curve and the Hosmer–Lemeshow goodness-of-fit test, respectively. Results Among the 75 patients included, there were eight (10.6%) mortalities. All systems had a reliable power of discrimination and calibration. Among the systems tested, MPM II was the best performing as far as discrimination and calibration characteristics were considered. The parameters of MPM II system that were related to systemic perfusion of the patient were significantly positive in patients who died compared to those who survived. Conclusions MPM II that predicted mortality at admission is better than the other systems in predicting mortality. Results also indicate the importance of maintenance of systemic perfusion of the patient at the early phases of peptic ulcer perforation.     

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling

Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inability to distinguish colors, impaired visual acuity, nystagmus and photophobia. A genome-wide search for linkage was performed using an inbred Jewish kindred from Iran. To facilitate the genome-wide search, we utilized a DNA pooling strategy which takes advantage of the likelihood that the disease in this inbred kindred is inherited by all affected individuals from a common founder. Equal molar amounts of DNA from all affected individuals were pooled and used as the PCR template for short tandem repeat polymorphic markers (STRPs). Pooled DNA from unaffected members of the kindred was used as a control. A reduction in the number of alleles in the affected versus control pool was observed at several loci. Upon genotyping of individual family members, significant linkage was established between the disease phenotype and markers localized on chromosome 2. The highest LOD score observed was 5.4 (theta = 0). When four additional small unrelated families were genotyped, the combined peak LOD score was 8.2. Analysis of recombinant chromosomes revealed that the disease gene lies within a 30 cM interval which spans the centromere. Additional fine-mapping studies identified a region of homozygosity in all affected individuals, narrowing the region to 14 cM. A candidate gene for achromatopsia was excluded from this disease interval by radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an essential first step in the identification of the disease-causing gene.      

Segmental myoclonus as the presenting symptom of an acute disseminated encephalomyelitis: a case report.

Segmental myoclonus is described as the involuntary contractions of contiguous muscles innerved by the brain stem or by spinal cord. The underlying causes of segmental myoclonus in children are demyelinating diseases and intrinsic tumors. Here, we report a case who was presented with segmental myoclonus on his left arm and later diagnosed as atypical monosymptomatic presentation of acute disseminated encephalomyelitis (ADEM). The case represents the first in the literature in which ADEM is considered as the possible cause of segmental myoclonus. Our findings demonstrate that: (i) in focal movement disorders such as segmental myoclonus, a careful neuroradiological examination of the neuroanatomical region for the possible presence of organic lesions might be rewarding, (ii) ADEM might be one of the potentially reversible causes of myoclonus.     

Maternal mortality rates in the last eight years: A university hospital-based study from Turkey.

OBJECTIVE: To analyze the cause of changing maternal mortality ratios (MMRs) in a tertiary women's health center in Turkey in the last eight years. MATERIALS AND METHODS: Charts of patients seen between 1998 and 2005 were retrospectively reviewed. Statistical analysis was performed using the Chi-square test. The results were accepted to be significant when the p value was <0.05. RESULTS: During this period, 27 pregnancy-related deaths were identified via hospital death records. The MMR was found to have decreased in rate by approximately 50% from 822.2/100,000 live births in the previous report including the years 1978-1997 to 412.0/100,000 during the last eight years (p < 0.01). Pregnancy-induced hypertension was still the most frequent cause of maternal death. The decrease in MMR was due to the decrease in the ratio of maternal infection (26.4% in 1978-1997 to 7.4% in 1998-2005, p < 0.01). CONCLUSION: Although treatment in the antenatal care and health service has decreased maternal deaths, it was discovered that the MMR has not reached the optimum levels found in developed countries in the last eight years. Also the percentage of direct obstetric deaths (with the exception of those caused by infection) showed no change and was similar to that found in the previous report (1978-1997).     

A novel treatment for chronic pancreatitis

Background Hereditary pancreatitis is an important cause of chronic pancreatitis, which may result in endocrine and exocrine failure. This may necessitate simultaneous pancreas and kidney transplant (SPK). Bladder drainage of the exocrine secretions may cause problems. Aim To report one such case and its surgical correction. Methods A 20-year-old male with insulin-dependent diabetes mellitus secondary to idiopathic chronic pancreatitis had a SPK with bladder drainage. Urological and metabolic complications secondary to the drainage of pancreatic secretions, rich in proteolytic enzymes required convertion from bladder to enteric drainage. Results He was able to discontinue his pancreatic enzyme supplements, ceased to have steatorrhoea and gained weight. He was referred to the €pean Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (€PAC), hereditary pancreatitis was confirmed by genetic analysis. Conclusion Enteric-drained pancreas transplantation is a successful treatment for exocrine as well as endocrine pancreatic failure and should be considered as a treatment option in patients with chronic pancreatitis.