farzad jasemi zergani

Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene.We enrolled one consanguineous Iranian family with one patient in our study. Targeted genomic capture and massively parallel sequencing (MPS) of all recognized genes responsible for BS subtypes 1–5 were carried out to recognize the genetic reasons of BS.Here, we report the recognition of a novel homozygous frameshift mutation in the CLCNKB gene in an Iranian pedigree. The subjects were homozygous for a frameshift mutation (p.Gly662GlyfsX12) within CLCNKB gene that encodes the basolateral chloride voltage-gated channel Kb.The identification of other causative mutations in CLCNKB gene additionally supports the important function of this gene in causing BS. To the best of our knowledge, this is a novel CLCNKB gene mutation in BS children.The accurate function of the CLCNKB Gly662GlyfsX12 mutation in the CBS pathogenesis  is still unknown.

Liver biopsy is the gold standard for assessing liver fibrosis.Scoring systems such as BARD and BAAT has been studied in the detection of liver fibrosis. The objective of this is study was to determine the diagnostic value of BARD and BAAT Scoring systems in predicting liver fibrosis. Subjects and In this cross-sectional study, the study group was selected among patients whit breast cancer. Those with chronic liver disease were excluded from the study. Finally 60 female patients with breast cancer included and undergone liver elastography. Elastography results were compared with BARD and BAAT. The clinical data of the patients with liver stiffness degrees F0-F2 and F3-F4 based on transient elastography were compared. The rate of BARD score 3-4 concordance with the F3-4 degrees of liver stiffness in transient elastography had a sensitivity, specificity, positive and negative predictive value of 84.6 %, 72.3 %,45.8 % and 94.4 % respectively with accuracy 75 % and odds ratio of 14.38 (95% CI: 2.8-73.9). The corresponding values for BAAT score were 91.5 %, 93.6 %, 72.7 % and 89.8 % with an accuracy of 86.66 % and odds ratio of 23.46 (95% CI:4.56 - 118). In this study, there was a significant association between BAAT and BARD scores with advanced degrees of liver stiffness. In cases where liver elastography or liver biopsy is unavailability or patients are reluctant, the BAAT and BARD scores are useful for determining the severity of liver fibrosis.

Celiac disease presents with a wide spectrum of symptoms. This study clarifies different aspects of celiac disease along with the most common patterns of celiac presentation in Khuzestan Province, Iran. Patients'' information was obtained by evaluation of their files from the archives of the Khuzestan Celiac Society and records at gastroenterologists’ offices in this province.Overall, there were 103 (40 males, 63 females) patients included in this study. Patients’ mean ages were 33 ± 11 years (males) and 31.6 ± 11.7 years (females). In terms of geographic distribution, 54.1% resided in the center of the province followed by 26.5% who were residents of the northern area. The rate of employment among men was 70.6% whereas it was 8.3% for women. In terms of education, 21.9% of men and 33.3% of women had academic educations. The rate of matrimony was 80.6% (n=29) for men, 65.4% (n=38) for women and 3.4% (n=2) who were divorced. Mean height was 164 ± 14 cm in men and 157.5 ± 10 cm in women. Mean BMI at the time of presentation was 22.7 in men and 22.6 in women. The most common gastrointestinal (GI) complaints in male patients were diarrhea (35%), reflux (20%), bloating (17.5%), abdominal pain (15%), vomiting (15%) and constipation (7.5%). Female patients experienced diarrhea (49.2%), abdominal pain (31.7%), bloating (31.7%), vomiting (19%), constipation (9.5%) and reflux (7.9%). The most common concomitant non-GI disorders among male patients were anemia (17.1%), thyroid disease (14.3%), and weight loss (14.3%); women experienced anemia (33.9%), thyroid disease (12.5%), and weight loss (7.1%). Approximately half of the patients exhibited symptoms for more than five years prior to diagnosis and 90% were diagnosed by gastroenterologists. Of these, 43% had normal endoscopy results. The most common serologic markers were anti-TTG (69.9%), anti-EMA (27.7%). Physicians, prior to attributing patients’ symptoms to irritable bowel syndrome (IBS), should be aware that patients who present with long-term nonspecific symptoms might possibly have celiac disease. During endoscopy, the threshold for obtaining biopsies should be low.