Angiosarcoma Presenting with Minor Erythema and Swelling

A 76-year-old man presented with slowly progressive swelling in his forehead and left upper eyelid over the course of three months. CT scanning showed non-specific enhancement of subcutaneous tissues, suggesting a low-grade cellulitis. Poor response to treatment prompted an MRI, which revealed the presence of a soft tissue lesion. Biopsy of this lesion was positive for angiosarcoma. The patient underwent chemotherapy and radiation, but unfortunately succumbed to his malignancy eight months later. This case illustrates a rare example of facial/periorbital angiosarcoma, a benign-appearing but aggressive tumor associated with a high incidence of mortality. A review of the literature and current treatment options are discussed.Key words: Tumor, Eyelid edema, Angiosarcoma, Eyelid cancer     

Case report of a perforated appendix in the sac of inguinal hernia (Amyand's hernia)

This case is a rare aspect of inguinal hernia. The patient was admitted with a 10-day pain of right groin and a past history of an inguinal hernia which was irreducible at the time of admission. In the operating room, the hernia sac was opened which included a perforated and gangrenous appendix that is called Amyand's hernia. The patient underwent appendectomy and herniorrhaphy at the same operation.     

Assessment of expression of RELN signaling pathway in multiple sclerosis patients

Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system. Nearly 85% of MS patients are recognized with relapsing-remitting MS (RRMS), a typical clinical course of disease which is distinguished by several episodes of relapses, separated by remissions of neurological impairment. Failure of repair mechanisms is a main factor in progression of neurological dysfunction in MS. Several lines of evidence suggest that Reelin (RELN) signaling pathway can contribute in the regulation of repair mechanisms in MS patients. In the present study, we assessed expression levels of RELN and Disabled-1 (DAB1), two key genes in RELN signaling pathway, in peripheral blood of 50 RRMS patients and 50 matched healthy subjects. RELN was significantly down-regulated in total MS patients, and total female patients compared with the matched controls. However, no statistically significant difference was found in DAB1 mRNA expression between MS patients and controls. Furthermore, considerable correlations were detected between expression levels of RELN and DAB1 in the patients group. There were no significant correlations between expression levels of genes and EDSS, disease duration or age at onset. Our study provides evidences for the role of RELN signaling pathway in the pathogenesis of MS. Further studies are required to clarify the exact clinical significance of this pathway in MS patients.     

Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism

Metabolic Brain Disease - Cytoplasmic FMRP interacting proteins 1 and 2 (CYFIP1/2) have been previously shown to be associated with central nervous system (CNS) disorders such as autism spectrum...     

The effects of physical exercise and smoking habits on the expression of SPLUNC1 in nasal lavage fluids from allergic rhinitis subjects

Objective

Palate lung nasal epithelial clone (PLUNC) is a family of proteins, which are proposed to participate in the innate immune defense against infections in the upper aero-digestive tract. The aim of this study was to investigate the expression of SPLUNC1 in allergic rhinitis subjects with considerations taken to the mucosal function and smoking habits.

Methods

The participants, recruited from a cohort followed from infancy, were re-examined at the age of 18 years regarding allergy development. Based on medical histories and skin prick tests the participants were classified into groups with persistent allergic rhinitis (n = 18), intermittent allergic rhinitis (n = 8) and healthy controls (n = 13). Seven subjects (3, 2 and 2 in each group, respectively) reported smoking habits. The SPLUNC1 levels in nasal lavage fluids were analyzed by Western blot. Changes in the volume of the proper nasal cavity before and after physical exercise (Vol2^increase) were analyzed by acoustic rhinometry.

Results

Compared to the control group the SPLUNC1 level was significantly lower in the persistent allergy group (3.8 ± 3.4 OD vs. 1.3 ± 1.5 OD; p = 0.02), but not in the intermittent allergy group without current exposure to allergens (3.6 ± 4.7 OD). No differences were found in Vol2^increase between any of the allergy groups and controls. In smokers Vol2^increase was significantly reduced (p < 0.01) and the SPLUNC1 levels were lower compared to non-smokers. A significant correlation was found between SPLUNC1 and Vol2^increase (p < 0.01; r = 0.53) in non-smokers.

Conclusions

Current allergen exposure has an impact on SPLUNC1 expression in nasal lavage fluid, why allergy ought to be considered in study populations where analyses of SPLUNC1 levels are included in the reports. The normal nasal decongestion after exercise was not affected by allergy in contrast to smoking habits. The correlation between SPLUNC1 levels and Vol2^increase in non-smokers may indicate involvement of SPLUNC1in the regulation of the normal function of the nasal mucosa. Complementary studies are needed to confirm the smoke-related reduction of SPLUNC1 expression and to analyze the possible participation of SPLUNC1 in the nasal mucosa regulation.     

Incorporation of second‐tier tests and secondary biomarkers to improve positive predictive value (PPV) rate in newborn metabolic screening program

BackgroundNowadays, neonatal screening has become an essential part of routine newborn care in the world. This is a non‐invasive evaluation that evaluated inborn errors of metabolisms (IEMs) using tandem mass spectrometry (LC‐MS/MS) for the evaluation of the baby''s risk of certain metabolic disorders.MethodsThis retrospective study was conducted on 39987 Iranian newborns who were referred to Nilou Medical Laboratory, Tehran, Iran, for newborn screening programs of IEMs. We incorporated second‐tier tests and secondary biomarkers to improve positive predictive value (PPV).ResultsStatistical data were recorded via call interviewing in 6–8 months after their screening tests. The overall prevalence of IEM was 1:975. The mean age of all participants was 3.9 ± 1.1 days; 5.1% of participants were over 13 days and 7.7% were preterm or underweight. A total of 11384 (29.4%) of the cases were born in a consanguineous family. The type of delivery was the cesarean section in 8332 (51.3%) valid cases. The neonatal screening results had an overall negative predictive value (NPV) of 100% and the overall PPV of 40.2%. The false‐positive rate was 0.15%.ConclusionThis study showed a high incidence of metabolic disease due to a high rate of consanguineous marriages in Iran and indicated that incorporation of second‐tier tests and secondary biomarkers improves PPV of neonatal screening programs.