No Abstract

Multiple sclerosis (MS) is an autoimmune disease with the impaired balance of CD4⁺T cells. This trial is a descriptive study to evaluate the expression of CD4⁺T cell cytokines, interleukin (IL) ‑2, IL‑4, IL‑17, TGF‑β, and respectively related transcription factors, including T-bet, GATA3, RORγt and FoxP3 in MS patients. Sixteen relapsing-remitting MS (RRMS) patients receiving interferon beta (IFN-β)-1a in the stable phase of the disease and 14 healthy control volunteers (HCs) were enrolled in this study. The expression of cytokines and transcription factors was evaluated in peripheral blood mononuclear cells (PBMCs) of patients using real time PCR. The results of this study showed that the expression of IL-2 (P≤0.05), IL-4 (P≤0.05), IL-17 (P≤0.05) and RORγt (P≤0.01) in PBMCs of RRMS patients were significantly higher than those in HCs. The expression of TGF‑β, GATA3, and FoxP3 were higher but the RORγt expression was lower in the patients than HCs without reaching significant value. Observed results indicated differences in immune system cytokines of healthy volunteers and the patients that were in the stable phase and under immunomodulatory therapy especially in proinflammatory mediators. Therefore, any therapeutic strategy to restore the immune system balance is desirable in RRMS patients.

Non-syndromic aniridia (iris hypoplasia) as an autosomal dominant eye disorder results from the chromosomal abnormalities and mutations within the paired box gene 6 (PAX6). The aim of this study was to investigate on the clinical and the underlying genetic alteration in PAX6 gene in a large pedigree with five generations of Iranian family with an autosomal dominant aniridia. Here, we reported unique clinical features in terms of presenting nystagmus, ptosis, minimal iris abnormality, foveal hypoplasia and late-onset clinical limbal stem cell deficiency. Genomic DNA was extracted from the affected members and polymerase chain reaction (PCR) was conducted using specific primers to amplify coding sequence of PAX6. Then, PCR products were subjected to bidirectional dye terminator sequencing. A heterozygous transversion mutation A→T (c.1268A>T, p.*423Lext*15) in exon 13 of PAX6 was identified in all affected individuals, but not in the healthy members. This is the first report of non-stop mutation in PAX6 gene in an Iranian family accompanied with an isolated form of unusual congenital aniridia running within this family.

Genome-wide association studies in Asian population for the first time identified common variants in the KCNQ1 gene to be associated with type 2 diabetes in Japanese populations, recently. This result has been replied in some other East Asian population but, still now, there is no any report about this subject in Iranian population. The aim of this study was to investigate the frequency of KCNQ1 variants in type 2 diabetes in East Azerbaijan population, northwest of Iran. A total of 75 T2D and 90 normal East Azerbaijan subjects were entered the study. A demographic date was recorded for all subjects. Genomic DNA was extracted from the whole blood, and the KCNQ1 single nucleotide polymorphisms (SNPs) rs2237892 were genotyped with PCR-RFLP technique. The results of the study indicated an increased level of FBS and HbA1C among T2D cases (P<0/0001), as expected. Screening for KCNQ1 rs237892 among T2D case group revealed that the genotype frequencies of CC, CT and TT were 87.0% (67/77), 10.4% (8/77) and 2.6% (2/77), respectively. The allelic frequencies of C and T in case subjects were 92.21% (142/154) and 7.79% (12/154), respectively. Analysis of the normal control subjects showed the genotype frequencies of CC, CT and TT were 94.4% (85/90), 3.3% (3/90) 2/2% (2/90), respectively. The allelic frequencies of C and T among controls were 96.11% (173/180) and 3.89% (7/180), respectively. In conclusion, the results of our study indicated that there are no any significant differences in frequency of KCNQ1 rs237892 alleles between T2D and control subjects.

There are different treatment protocols available for acute promyelocytic leukemia (APL) such as all-trans retinoic acid (ATRA) plus chemotherapy or arsenic trioxide (ATO) based regimens. In this study, we focused on the role of ATRA followed by an anthracycline-containing chemotherapy regimen. This study reported the outcome of APL patients at 501 army hospital; Tehran, Iran. Seventy-three patients were included between 1995 and 2015. Treatment in our center for the majority of cases included induction with ATRA followed by Cytarabine (AraC) and an anthracycline agent (daunorubicin), and then three cycles of consolidation chemotherapy. Maintenance consisted of a 2-year period of medication with ATRA, Methotrexate (MTX) and 6-mercaptopurine (6-MP). Relapsed cases were treated with ATRA and a combination of etoposide, mitoxantrone, and cytarabine. Kaplan-Meier estimate was used to calculate survival rates. We detected 5- and 10-year overall and disease-free survival rates of 51.6% and 50.2% respectively. For those patients who survived induction deaths and received ATRA-based chemotherapy the 5-year OS and DFS rates were 68.8% and 66.5%, respectively. Hematologic complete remission (CR) was observed in all but three patients, and relapse occurred in 12 cases. The cardinal causes of induction death were disseminated intravascular coagulation (DIC) and infection. Up to the end of the follow-up time, 31 patients died including 11 cases of the relapsed disease. The combination of ATRA and chemotherapy could lead to an acceptable CR rate and relapse incidences in newly diagnosed APL patients, but more effective strategies need to be developed for screening and treatment of relapse.

Renal cell carcinoma accounts 85% of all renal tumors. In this study, we aimed to investigate the clinical and pathological results of female patients with RCCs and compare with male patients. The patients who underwent radical or partial nephrectomy were reviewed retrospectively. The clinical characteristics of male and female patients were analyzed and compared with age, tumor size, histological subtype, Fuhrman nuclear grade, and pathological T stage. There were 266 patients in the study. Of these patients; 181 patients (68.05%)  were male and 85 patients (31.95%) were female. The female patients’ and male patients’ mean ages were 57.09±13.36 and 60.24±10.44 years (P=0.007), respectively. Tumor size was smaller in female patients than male patients with statistically significant association (5.69±3.20 and 6.97±3.67, P=0.046). According to the histological subtypes, female patients had a greater proportion of chromophobe RCC with 18.82% of the patients. Interestingly, papillary (12.56%) and sarcomatoid differentiation (6.01%) subtypes were predominantly seen in male patients. The proportion of localized disease (pT1-2) was 80% and 74.3% in female and male patients, grade 1 and 2 consist 61.16% and 48.63% of the female and male patients. The female patients with RCC had smaller tumors and presented at younger age than male patients. Further research and epidemiologic studies are needed to define the effect of gender in renal cell carcinomas.

Pancreas gets affected by fibrosis associated with aging. This study analyzed the age-related fibrotic changes in the exocrine as well as endocrine system of the pancreas. After obtaining necessary ethical clearances 30 post-natal and adult pancreases were collected and processed to obtain resin-embedded sections for transmission electron microscopy and paraffin-embedded sections for H and E staining and light microscopy. The sections were analyzed qualitatively and quantitatively. It was observed with ageing, the ductal epithelial cytoplasm contained many lipoid bodies. The basal lamina and the connective tissue around ducts increased. Periductal fibrosis appeared during fourth decade in Indian population whereas it appears sixth decade in Europeans. There was a direct correlation between area of the ducts and increasing age. Stellate cells and centroacinar cells increased with aging. The cytoplasmic processes of the centroacinar cells covered the acini and ductal epithelial cells, indicating their important function. The centroacinar cells have a regulatory role in secretory process during normal and pathological conditions. Increased fibrosis was noted in and around the islets of Langerhans. Epithelial hyperplasia, papillary projections, and periductal fibrosis around small and medium sized duct started very early in Indian populations indicating the vulnerability to pancreatic diseases in the Indian population in early ages.

Foramen Spinosum (FS) is one of the chief foramens in the infratemporal surface of greater wing of the sphenoid which is situated just posterior and lateral to foramen ovale. It is a significant landmark in cases of damage to the base of skull particularly in the middle cranial fossa and infratemporal fossa. It is usually needed as a landmark in neurosurgery because of its adjacent relations with other cranial foramina. So, this study was undertaken to determine the precise range of dimensions, the variations, asymmetry, and dissimilarity of the size seen in the foramen spinosum in the South Indian population. Sixty eight dry skulls of unknown sex were used for the study. Various measurements and distance from various surgical landmarks were taken to assess the position of foramen spinosum on both sides of skull. We also calculated the area of foramen spinosum. Various shapes of foramen spinosum were also noted, i.e. round, oval, pin hole or irregular. Statistical Analysis was done for the all the measurements using spss software. The mean anteroposterior diameter of foramen spinosum was 2.955±1.132 mm, 3.226±0.813 mm on the right and left sides. The mean transverse diameter of foramen spinosum came out to be 2.169±0.804 mm on right side and 2.274±9.174 mm on left side. There was no statistical significance in any parameter measured on the right and left side. This study will be helpful for neurosurgeons while doing surgery in the middle cranial fossa.

Foreign bodies are commonly ingested and usually pass through the gastrointestinal tract, but in less than 1% complications can be seen. We aimed to report a very rare case of multiple hepatic abscesses caused by perforation of the sigmoid colon due to a chicken bone. An 82-year-old man presented with a 5-day history of abdominal pain, fever, and coffee ground vomiting. He was febrile and tachycardic and had a mild localized abdominal tenderness in the left lower quadrant. Laboratory findings revealed a lymphocyte dominant leukocytosis with an elevated erythrocyte sedimentation rate. Multiple abscesses were shown in the right lobe of the liver in abdominal computed tomography. Colonoscopy showed a chicken bone perforating both walls of the sigmoid colon. He received broad-spectrum antibiotics and underwent surgery for a complete recovery. Chronic lymphocytic leukemia was diagnosed by flow cytometry phenotyping. Mortality and morbidity of hepatic sepsis caused by foreign body-induced colon perforation depend on a rapid diagnosis.  We presented a very rare condition that should always be kept in mind when dealing with a case of liver abscess and even while confronting septic shock with an unknown origin.

Castleman’s disease (CD) is a rare benign lymphoproliferative disorder with unknown etiology and pathogenesis. It presents in two identified clinical forms of unicentric or multicentric. The disease is usually found incidentally in the mediastinal or hilar region in asymptomatic patients. In unicentric CD, constitutional symptoms are uncommon, and they can be misdiagnosed as lung infections or malignancy. Although imaging studies are helpful, but definitive diagnosis can be made with pathologic examination. Complete surgical resection is the method of choice for treatment of localized CD, and the prognosis is excellent. In this study, we elucidate clinical features and therapeutic consequences of four cases of unicentric CD referred to our department and review the literature on the diagnosis and management of this relatively rare disorder. Because of the rarity of the disease and nonspecific signs and symptoms of CD it must be considered in differential diagnosis of pulmonary and mediastinal masses.

Myositis ossificans progressiva is a rare inherited disease characterized by progressive ectopic ossifications associated with thumb and big toe anomalies. Ossification usually progresses from central to the peripheral, proximal to distal, cranial to caudal, and from dorsal to ventral directions and leading to activity limitation, significant eating disability, recurrent pulmonary infection, and atelectasis. In this report, we present a 7-year-old boy with a total spine stiffness (wooden spine) seriously limited his activity of daily living.