Archives of Iranian Medicine
Volume:22 Issue: 12, Dec 2019

Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological features.

We report a case series of 18 patients diagnosed with ataxia-telangiectasia, who were referred to a tertiary center of clinical immunology from 2008–2018. Clinical presentations, medical records and lab data were observed during this period with a mean follow-up time of 4.57 ± 2.66 years.

The mean age of the patients was 10.92 ± 3.24 years (11 females and 7 males). Thirteen patients (72.22%) were from families with consanguinity. Ataxia was the most common clinical feature, observed in 18 (100%) patients. The predominant clinical presentations were tremor and oculocutaneous telangiectasia, observed in 14 (77.8%) patients; dysarthria and oculomotor apraxia, observed in 13 (72.2%) patients. Infections were recorded in 12 (70.6%) patients. Decreased IgG level and IgA levels were observed in 5 (33.3%) and 6 (40.0%) patients, respectively. Decreased B-cell number and T-cell number were noted in 7 (46.67%) and 11 (73.33%) patients, respectively. Three (16.7%) patients were diagnosed with acute lymphoblastic leukemia and two of them expired subsequently.

Ataxia-telangiectasia is a progressive disease with no established therapy; so, it necessitates early diagnosis and follow-up of the patients. The presented clinical and immunological data in this study may help with diagnosis and management of the disease complications.

The aim of this study is to evaluate whether there is an association between the platelet mass and patent ductus arteriosus (PDA) closure in premature newborns.

Preterm infants (gestational age ≤33 weeks) with hemodynamically significant PDA (group 1, n = 178) and a control group of preterm infants without PDA (group 2, n = 211) were retrospectively evaluated between August 1, 2013 and July 30, 2015 in the neonatal intensive care unit (NICU). Platelet counts and platelet indices including mean platelet volume (MPV), and platelet mass (platelet count x mean platelet volume) in the first 24 hours of life, demographic findings and morbidities were recorded.

No differences were observed in demographic findings between the study groups in terms of birth weight, gestational age, gender and maternal risk factors. The mean platelet count in the first postnatal hemogram in group 1 and group 2 were 189.43 ± 72.14 (X103 /mm3) and 206.86 ± 70.11(X103/mm3), respectively (P < 0.05). The MPV were similar in both groups (P > 0.05). Platelet mass values were 1443.70 ± 572.40 fL/nL in Group 1 and 1669.49 ± 1200.42 fL/nL in group 2. There was a statistically significant difference in platelet mass values between the two groups (P = 0.011). Multivariable analysis including presence of thrombocytopenia, MPV and platelet mass showed that hemodynamically significant PDA was not independently associated with platelet count <150 000 (OR = 1.001, 95% CI 0.980–1.023; P = 0.921), MPV (OR = 0.967, 95% CI 0.587–1.596; P = 0.897) or platelet mass (OR = 0.999, 95% CI 0.997–1.002; P = 0.681). The optimal cut-off value of platelet mass for patients with PDA was ≤1530.8 fL/nL (area under the curve [AUC]: 0.580), with sensitivity of 58% and specificity of 56.2% (P = 0.008).

Our data suggest that platelet count, MPV, and platelet mass do not contribute to closure of PDA in premature newborns.

Co-occurring methamphetamine (METH) use during methadone maintenance therapy (MMT) is a highly prevalent and progressive problem in Iran. There are no registered pharmacological treatments for treating METH use disorder. The present study investigates the potential efficacy of atomoxetine in the treatment of these patients.

In a double-blind, controlled clinical trial, 86 METH-dependents on MMT randomly received either atomoxetine (40 mg/d) or placebo. We measured the craving scores with visual analog scale (VAS) on a weekly basis, and evaluated depression, anxiety and stress with the Depression Anxiety Stress Scales (DASS) on a monthly basis. Measurements were made in each weekly visit with urinary METH drug test.

Atomoxetine significantly reduced METH craving (P < 0.001). Negative METH urine test increased significantly in the drug group compared to the placebo group (P = 0.007). While initially the METH urine test was positive for all patients, 56% (25/45) in the atomoxetine group and 26% (11/41) in the placebo group had negative METH urine tests after 8 weeks. DASS were decreased in both groups with a greater reduction in the atomoxetine group [depression (P = 0.028), anxiety (P = 0.038), and stress (P = 0.031)]. Only mild side effects were observed.

This study confirms the safety and clinical tolerance of atomoxetine, and its appropriate efficacy in suppressing METH craving and possible potential effects on its treatment.

To measure parameters suggesting right heart failure on computed tomography angiography (CTA) taken in pulmonary embolism (PE) and to evaluate their possible contribution to the diagnosis. To investigate the changes in the parameters of PE cases at the 6th month-1 year and to evaluate the importance of these values in prognosis. PE is a disease which may be difficult to diagnose because of its different symptoms and can be fatal. The evaluation of right heart failure findings with CTA is very important in diagnosis and follow-up.

The mean pulmonary artery (PA) diameter, the ratio of the right ventricle to the left ventricle diameter (RV/LV), contrast material reflux to vena cava inferior and the elapsed time (ET), which was the time required to reach the targeted contrast threshold of 95 patients were measured at the first visit and under treatment.

RV/LV, ET and contrast medium reflux at PE group were significantly higher than those without embolism (P = 0.009, P = 0.001, P = 0.014). In the first CTAs of the PE group, these parameters were significantly reduced in the control CTAs (P = 0.005, P = 0.013, P = 0.016).

It can be said that the values we measured are important in terms of prognosis of PE by assisting in diagnosis and in evaluating post-treatment recovery.

(i) Cluster analysis and partitioning samples based on cardio-cerebrovascular histories and length of stay (LOS); (ii) Determining related demographic and medical factors in individual clusters; and (iii) Comparing clusters based on 12-month health outcomes.

The statistical population of the study included 2,293 stroke patients hospitalized in Imam Reza hospital of Kermanshah city from January 1, 2015, to December 31, 2016. After a one-year follow-up, the data collection window was closed on December 31, 2017. The patients’ data were extracted from the electronic hospital information system (HIS). Two-step cluster analysis (TSCA), chi-square, Fisher exact, Kruskal-Wallis, and Mann-Whitney U tests, as well as multinomial logistic regression analysis were the analysis methods.

This model suggested five distinct clusters: the patients (i) without any cardio-cerebrovascular history and LOS = 5 days (36.2%); (ii) without any cardio-cerebrovascular history and LOS = 6 days (21.6%); (iii) with cerebrovascular history and LOS = 6 days (18.6%); (iv) with cardiovascular history and LOS = 6 days (16.1%); and (v) with cardio-cerebrovascular history and LOS = 6 days (7.5%). Hypertension, diabetes, and smoking were respectively the most significant modifiable risk factors, while sex, cerebrovascular diseases in the family, and age were respectively the most significant non-modifiable risk factors in high-risk clusters and LOS = 6 days. Compared to Cluster 1 (reference), during a one-year follow-up, a larger number of members in Clusters 3 and 5 were readmitted and/or expired.

Considering the modifiable risk factors identified in the current study, providing programs for preventing readmission and potential death caused by stroke for Clusters 3 and 5 seems essential

Uterine fibroids (UFs) are the most common benign tumors of the uterus with an unknown etiology, affecting many women of reproductive age. We aimed to evaluate the association between UFs and anthropometric features, subcutaneous and preperitoneal fat thickness and lipid profile.

This is a case-control study conducted on 212 women who were available in the Al-Zahra specialized referral hospital from March 2018 to March 2019. Study variables including weight, height, waist and hip circumference were measured for all individuals. For patients with UFs, the size, number and location of fibroids were recorded. Also, subcutaneous and preperitoneal fat thicknesses were measured. Finally, the data were analyzed using the SPSS software ver.16.0

The most common complaint was abnormal uterine bleeding (AUB) in both groups. Most of the patients had a body mass index (BMI) of 25–30. There were significant differences between the two groups in terms of age (P = 0.0001) and waist circumference (P = 0.011). Cholesterol levels were much higher in the case group. Only age and low-density lipoprotein-cholesterol (LDL-C) levels in the case group were positively related to developing UFs, such that with advancing aging and increasing levels of LDL-C, the likelihood of experiencing UFs rose by 10% and 1.1%, respectively. Also, there were no significant differences between the two groups regarding in either preperitoneal fat thickness (PFT) or subcutaneous fat thickness (SFT).

Our findings suggest that with aging and higher levels of LDL-C, the likelihood of developing UFs rises.

Human albumin is an expensive therapy with inappropriate use in many clinical conditions. Inappropriate use of albumin imposes a substantial economic burden on the healthcare system and society. Drug use evaluation (DUE) is one method of assessing the appropriateness of drug use which has been powered by increasing concern about the cost-effectiveness of drugs. The objective of this study is to systematically review the appropriateness of albumin utilization in Iranian hospitals.

We searched the PubMed, MEDLINE, EMBASE, SCOPUS, and Google Scholar for articles in English and SID, Magiran, Medlib, and Irandoc for articles in Persian from 1997 to 2018. Studies on the DUE of albumin in Iranian hospitals were included in this study. Articles conducted outside Iran, editorials, letters and review articles were excluded.

In total, eight studies were selected for the final review. The majority of the papers were conducted in Tehran. In most studies, the highest albumin consumption was related to the intensive care unit. The most frequent reasons for prescribing albumin were edema, hypoalbuminemia, volume expansion after heart surgery, ascites, cardiac surgery and cirrhosis. Of the studies included, five studies evaluated the costs of drug use.

Our findings show that inappropriate use of albumin imposes a relatively high additional cost on the society. The included studies show that the percentage of inappropriate use of albumin is relatively high in Iran and this abuse is an essential problem in Iranian hospitals. Prescription based on standard guidelines could improve rational use of albumin and lead to savings in treatment costs.

The TWNK (C10orf2) gene encodes Twinkle, an essential helicase for mtDNA replication. Homozygous mutations in TWNK can lead to mitochondrial DNA depletion syndrome 7 (MTDPS7) that usually manifests as Infantile onset spinocerebellar ataxia (IOSCA). Here, we report a 15-year-old Iranian boy with three main symptoms; ataxia, sensorineural hearing loss and optic nerves atrophy which were accompanied by other symptoms including flexion contracture, dysarthric speech, nystagmus, dystonia and borderline intellectual disability. Whole exome sequencing (WES) revealed a homozygous mutation in his TWNK gene. The mutation was a transversion which replaced a C with A (NM_021830.4 (TWNK):c.874C>A). This nucleotide substitution results in replacing a Threonine with Proline in codon 292 of Twinkle protein (p.Pro292Thr). In silico analyses showed that this amino acid change in Twinkle could be deleterious and disease-causing; therefore, we attribute the symptoms of our patient to this mutation. Our study extended the homozygous mutation spectrum of the TWNK gene that leads to IOSCA.

The present study deviates from previous approaches as it focuses on the concept of energy to illuminate cancer-related issues. Energy is a prerequisite for any function; cellular function is no exception, and thus, reduced energy in human cells can impair their performance. This hypothesis provides a novel view of cancer formation. It shows that a normal cell transforms into its cancerous counterpart in response to cellular adenosine triphosphate (ATP) depletion. Moreover, it presents a new definition for the origin of cancer stem cells and how they can regenerate cancer. This article regards a distinct aspect of cancer that helps to differentiate various phases of its progression and shed light on some of the uncharted zones of its pathway for the first time that needs further confirmation by empirical studies.