Keratoacanthomas frequently show chromosomal aberrations as assessed by comparative genomic hybridization

Keratoacanthomas are commonly occurring benign skin lesions localized to sun-exposed areas. They typically develop rapidly and may show cellular atypia and infiltration like cutaneous squamous cell carcinomas, but they finally regress spontaneously. This benign lesion shows a high degree of genetic instability as assessed by comparative genomic hybridization, with 35.7% (25 of 70) of the analyzed lesions harboring chromosomal aberrations. The same frequency of genetic imbalance was found in lesions from immunosuppressed organ transplant recipients (36.4%, 20 of 55) and in patients with keratoacanthomas without immunosuppression (33.3%, five of 15), indicating a common pathway in both situations. Recurrent aberrations, given as a fraction of lesions with aberrations, were gains on 8q (20.0%), 1p and 9q (each 16.0%), and deletions on 3p (20.0%), 9p (20.0%), 19p (20.0%), and 19q (16.0%). Many of the most frequently appearing aberrations in keratoacanthomas were not detected in any of the 10 squamous cell carcinomas analyzed, whereas some aberrations were shared by both types of lesions. Aberrations were found in early and late stages of keratoacanthoma development, indicating a role for genetic instability in the progression as well as involution of keratoacanthomas. There were no significant correlations between cytologic atypia and genetic imbalance, or between degree of infiltration and genetic aberrations, although there was a trend for keratoacanthomas with severe atypia to have aberrations. Thus malignant phenotypic development does not appear to be driven by the detected genetic aberrations. More detailed studies of chromosomal areas with recurrent aberrations are needed for the localization of putative genes that determine the biologic behavior of keratoacanthomas, and that may distinguish them from squamous cell carcinomas.     

The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene

Allgrove syndrome is a genetic disorder inherited in an autosomal recessive pattern and characterized by a triad of adrenal insufficiency, achalasia, and alacrima. The gene affected by the mutation in patients with Allgrove syndrome is termed either AAAS or ALADIN (alacrima/achalasia/adrenal insufficiency/neurologic disorder). Adrenal insufficiency in patients with this disorder may develop as late as the third decade of life. We describe a 24-year-old female with Allgrove syndrome, in whom initial testing with 250 microg corticotropin (ACTH) stimulation test performed on 3 occasions produced normal serum cortisol values and results of the 1-microg ACTH stimulation tests performed on 6 occasions were conflicting. Insulin-induced hypoglycemia produced a nadir serum glucose value of 36 mg/dL without adequate serum cortisol stimulation, confirming presence of adrenal insufficiency. Gene sequencing identified 2 mutations in the triple A gene: an IVSC14 + 1 G to A mutation, which has been previously reported, and a novel R155P exon 6 mutation. We conclude that a novel R155P mutation in the ALADIN gene is associated with Allgrove syndrome and that insulin-induced hypoglycemia, rather than ACTH stimulation tests, should be used for accurate diagnosis of adrenal insufficiency in this disorder.     

Case-management for Patients with Schizophrenia in Iran: A Comparative Study of the Clinical Outcomes of Mental Health Workers and Consumers’ Family Members as Case Managers

The objective of this study was to evaluate the effectiveness of case-management services and the feasibility of considering the Consumers’ Family Members (CFM) as service providers in Iran as a developing country. Three trained case-managers were allocated into each group (Mental Health Worker-MHW and CFM), providing 12 months of home-visit services for 129 individuals with schizophrenia. Burden, knowledge, quality of life and the general health condition of the caregivers, as well as positive/negative symptoms and social skills of the consumers were evaluated. Most clinical variables were improved without significant differences between groups. The hospitalization rate was reduced by 67%.     

Unintended pregnancies in Hamedan,Iran: Levels and determinants

The recent limitation in the provision of publicly funded family planning services in Iran has concerned stakeholders in reproductive health about the incidence of unintended pregnancies. This study used data from Hamedan Survey of Fertility (HSF), conducted in April–June 2015 among a representative sample of 3,000 married women aged 15–49 years living in the city of Hamedan (Iran), to estimate levels of unintended pregnancies and examine factors related to pregnancy intentions for the most recent birth, using multinomial logistic regression analyses. Results showed that 23 percent of pregnant women reported their pregnancy as unintended (17 percent mistimed and 6 percent unwanted). Moreover, unintended pregnancies in the five years preceding the survey were the result of failures of withdrawal (35 percent) and of modern contraceptive use (33 percent), along with contraceptive discontinuation (23 percent) and non-use (9 percent). Multivariate results indicated that the risk of unintended pregnancy was lower among women reporting modern contraceptive failures and lower among those reporting contraceptive discontinuation and non-use, compared with women experiencing withdrawal failures. The high incidence of unintended pregnancies among women experiencing contraceptive failures and discontinuation imply their high unmet need for contraceptive knowledge and counseling rather than for access to contraceptive methods.     

Effect of stone composition,color,size,impaction and location on the efficacy of pneumatic ureterolithotripsy

Objective： Assessment of the relationship between stone location, composition, color, size and impaction with success rate of pneumatic ureterolithotripsy. Methods： This study was performed on 440 patients who were candidate for pneumatic ureterolithotripsy admitted in an academic urology department from February 2004 to June 2006. Exclusion criteria included active urinary tract infection and pregnancy. Information such as stone composition, color, impaction, size, location and surface were recorded. Success rate was defined as stone fragmentation to 〈 2 mm. We used chi-square test and student t-test for statistical analysis. Results： The success rate of pneumatic ureterolithotripsy was 83.0 %. Mean stone size was 9.86 ± 3. 79 mm. The stone free rates in upper, middle and lower ureter were 66.7%, 100% and 90.7% respectively （P 〈 0. 000 1 ）. Stone free rate was 100 % and 69.35% in 〈 5 mm and 〉 5 mm stones respectively （P 〈 0.000 1 ）. Impaction did not correlate significandy with stone free rate （P=0.17）. The success rate was 100 % in phosphate and cystine stones. There was a significant statistical difference between success rate and stone composition （ P = 0. 026）. The most common fragmented stone color was gold （95.5% ）. Stone color correlated significantly with stone free rate （P 〈 0.0001 ）. Conclusion： In this series ureterolithotripsy, stone free rate had a significant correlation with stone color, size, composition and location, but it was independent of stone impaction.