Optic nerve head neurovascular assessments in patients with schizophrenia: A cross-sectional study.

Objective: The retina is a protrusion of the brain, so researchers have recently proposed retinal changes as a new marker for studying central nervous system diseases. To investigate optic nerve head neurovascular structure assessed by optical coherence tomography angiography (OCTA) in schizophrenia compared to healthy subjects. Methods: The study was conducted from 2019 to 2021 at the Ibn Sina Psychiatric Hospital in Mashhad, Iran. We enrolled 22 hospitalized known cases of schizophrenia, treated with risperidone as an antipsychotic drug, and 22 healthy subjects. The two groups were matched in age and gender. In the schizophrenic group, the positive and negative syndrome scale test was used to assess the illness severity. All subjects underwent complete ophthalmic evaluations and OCTA imaging. Results: We found that the cup/disc area ratio, vertical cup/disc ratio, and horizontal cup/disc ratio are significantly higher in patients with schizophrenia than in healthy subjects (with p-values of 0.019, 0.015, and 0.022, respectively). No statistically significant difference in the peripapillary retinal nerve fiber layer and vascular parameters of the optic nerve head was observed between schizophrenia and healthy groups. Conclusion: We found evidence regarding the difference in the optic nerve head tomographic properties in schizophrenia compared to healthy subjects. However, ONH vascular parameters showed no significant difference. More studies are needed for a definite conclusion.

Abnormal frequency of the memory B cell subsets and plasmablasts in patients with congenital severe hemophilia A: correlation with "Inhibitor" formation.

BACKGROUND: Development of antibodies against infused Factor VIII (FVIII) or "inhibitors" represents a major challenge following FVIII replacement therapy in patients with hemophilia A (HA). Recent studies have shown that certain cellular compartments of the immune system contribute to the production of such antibodies. Herein, we determined the frequency of class-switched CD19+IgD-CD27+/non-class-switched CD19+IgD+CD27+ memory B cell subsets and CD19+CD27hiCD38hi plasmablasts in patients with severe HA and their association with the development of inhibitors in these patients. METHODS: This cross-sectional case-control study enrolled 32 patients with severe HA, including 8 with and 24 without inhibitors, and 24 healthy individuals. The frequencies of the memory B cell subsets and plasmablasts were determined using flow cytometry. RESULTS: The frequency of CD19+IgD+CD27+ non-class-switched memory B cells was significantly lower in patients with HA (including both patients with and without inhibitors) than in healthy controls. The percentages of both CD19+IgD-CD27+ class-switched and CD19+IgD+CD27+ non-class-switched memory B cells did not differ significantly between patients with and without inhibitors. HA patients with inhibitors had significantly higher proportions of CD19+CD27hiCD38hi plasmablasts than the control group as well as the inhibitor (-) ones. No significant correlation was observed between the inhibitor levels with the percentages of memory B cell subsets and plasmablasts. CONCLUSION: This study is the first to demonstrate a dysregulated proportion of CD19+IgD+CD27+ non-class-switched memory B cells and CD19+CD27hiCD38hi plasmablasts in patients with severe HA. Therefore, strategies targeting memory B-cell/plasmablast differentiation may have promising outcomes in the management of inhibitor formation in patients with severe HA.

The relationship between mobile phone addiction and depression, anxiety, and sleep quality in medical students.

This study investigates the prevalence of mobile phone addiction among medical students and its relationship with depression, anxiety, and sleep quality. The study was conducted at Mashhad University of Medical Sciences from 2019 to 2021, and it included medical students at four different levels of training. Participants were selected using a stratified random sampling method. All subjects completed the Mobile Phone Addiction Scale, Pittsburgh Sleep Quality Index (PSQI), Beck Depression Inventory, and Beck Anxiety Inventory through online electronic self-report questionnaires. Overall, 355 medical students were included in the study, with 203 (57.2%) being female. Mild and severe mobile phone addiction was reported by 83.7 and 2.5% of the students, respectively. Furthermore, the study's findings revealed significantly higher sleep quality disorder, depression, and anxiety scores among students with severe mobile phone addiction compared to other participants ( P  < 0.001, P  = 0.007, and P  < 0.001, respectively). Although mobile phone addiction was prevalent, severe addiction was rare among medical students. Nevertheless, severe addiction was associated with an increased prevalence of mental health problems and sleep disturbances, emphasizing the importance of interventions aimed at reducing mobile phone addiction and improving mental health.

Mental Health Triage from the Viewpoint of Psychiatric Emergency Department Nurses; a Qualitative Study.

Introduction: Mental health triage is a new nursing practice concept that is less studied and defined, especially among Iranian nurses. Therefore, this study aimed to explain the concept of mental health triage from the perspective of psychiatric emergency department (ED) nurses. Methods: This qualitative study collected data using semi-structured interviews with psychiatric ED nurses. Sampling was purposive and continued until data saturation. Analysis was conducted using conventional content analysis, as described in Griesheim and Landman approach. Results: 15 psychiatric ED nurses with the mean age of 35.13 ± 8.44 years were interviewed (60% male). Finally, two themes, five categories, and 16 sub-categories emerged from data analysis. Two themes emerged, including mental health triage meaning and mental health triage structure. The former included two categories of the nature and characteristics of mental health triage, and the latter consisted of three categories of mental state exploration from surface to depth, safety control measures, and the degree of emergency. According to the "degree of emergency" category, nurses could not make triage decisions based on their perceptions in an acceptable way. Conclusion: Psychiatric ED nurses have an appropriate understanding of mental health triage meaning. However, according to these nurses, its structure is associated with shortcomings that limit the provision of mental health triage services and reduce their quality.

Herbal Therapies for Weight Gain and Metabolic Abnormalities Induced by Atypical Antipsychotics: A Review Article.

Psychosis is a state of mind that makes it difficult to determine what is real and what is not. Psychosis can have serious negative effects. Like many psychiatric phenomena, psychosis has a variety of causes, such as schizophrenia, bipolar disorder, and psychotic depression. Antipsychotic medications, psychotherapy, and social support are the most common treatments. Antipsychotic drugs reduce the symptoms of psychosis by changing brain chemistry. Based on the mechanism of action, antipsychotics have two groups, typical and atypical. Most people who take antipsychotics experience side effects. People taking typical antipsychotics tend to have higher rates of extrapyramidal side effects, but some atypical drugs, especially olanzapine, are associated with the risk of significant weight gain, diabetes, and metabolic syndrome, which, in turn, increases the risk of atherosclerotic cardiovascular disease and premature death. Physical exercise, diet regimen, psychoeducation, monotherapy, or switching to an alternative antipsychotic are strategies to correct metabolic aberrates in atypical antipsychotic users. In light of several successful studies on the use of medicinal plants to control metabolic syndrome, this article briefly reviews the studies on some herbal medications for the management of metabolic disorders associated with atypical antipsychotics and discusses probable mechanisms. Therefore, we searched the Cochrane, Scopus, PubMed, and Google Scholar databases for works published before July, 2022, on the effect of herbal medications on antipsychotic-related metabolic abnormalities in animals or humans. We recommend that some herbal medicines may be efficient for regulating the metabolic changes related to atypical antipsychotics due to their multipotential action, and more efforts should be made to make herbal drug treatments more effective. We hope this review will be a reference for research on developing herbal therapeutics for metabolic alterations in antipsychotic customers.

An automated drug dependence detection system based on EEG.

OBJECTIVE: Substance abuse causes damage to the brain structure and function. This research aim is to design an automated drug dependence detection system based on EEG signals in a Multidrug (MD) abuser. METHODS: EEG signals were recorded from participants categorized into MD-dependents (n = 10) and Healthy Control (HC) (n = 12). The Recurrence Plot investigates the dynamic characteristics of the EEG signal. The entropy index (ENTR) measured from the Recurrence Quantification Analysis was considered the complexity index of the delta, theta, alpha, beta, gamma, and all-band EEG signals. Statistical analysis was performed by t-test. The support vector machine technique was used for the data classification. RESULTS: The results show decreased ENTR indices in the delta, alpha, beta, gamma, and all-band EEG signal and increased theta band in MD abusers compared to the HC group. That indicated the reduction of complexity in the delta, alpha, beta, gamma, and all-band EEG signals in the MD group. Additionally, the SVM classifier distinguished the MD group from the HC group with 90% accuracy, 89.36% sensitivity, 90.7% specificity, and 89.8% F1 score. CONCLUSIONS AND SIGNIFICANCE: The nonlinear analysis of brain data was used to build an automatic diagnostic aid system that could identify HC people apart from those who abuse MD.

Evaluation of Drug Abuse on Brain Function using Power Spectrum Analysis of Electroencephalogram Signals in Methamphetamine, Opioid, Cannabis, and Multi-Drug Abuser Groups.

Background: The effect of different types of substances on brain function is still challenging; however, many studies have shown the functional and structural damage to the brain under influence of substance abuse. Objective: This study aimed to quantitatively compare the effect of opioid (Op), methamphetamine (Meth), cannabis (Can), and simultaneous methamphetamine and opioid (Multi-Drug (MD)) abuse on brain function. Furthermore, the impacts of pure Op and Meth abuse were considered with simultaneous substance abuse. Material and Methods: In this descriptive study, the electroencephalogram (EEG) signal was recorded from 52 participants in the Meth, Op, Can, and MD abusers, and the Healthy Control (HC) groups at rest state. EEG data were analyzed on the frequency domain with electrode-based, cortex-based, and hemisphere-based approaches. Results: However, the power spectrum in the delta band in the Op group, the gamma band in the Can group, and the gamma and beta bands in the MD group more significantly increased compared to the HC group, the power spectrum values in the Meth group reduced in the alpha, beta, and gamma bands. Moreover, the power spectrum values in the MD group more significantly higher than the Meth and Op groups in the beta and gamma bands. Conclusion: Since substance abuse in different types caused various changes in frequency components, the different power spectrum bands analysis in abusers can be reasonable to apply as a biomarker to detect the drug types.

Severe acute respiratory syndrome coronavirus-2 Alpha variant (B.1.1.7), original wild-type severe acute respiratory syndrome coronavirus 2, and cytomegalovirus co-infection in a young adult with acute lymphoblastic leukemia, case report, and review of the possible cytomegalovirus reactivation mechanisms.

BACKGROUND: Like other viral infections, severe acute respiratory syndrome coronavirus-2 infection could affect different human body systems, including host immune responses. Three years after its pandemic, we learn more about this novel coronavirus. As we expected, different co-infections with various organisms, such as viruses, bacteria, and even fungi, have been reported. However, concurrent infection with two severe acute respiratory syndrome coronavirus-2 strains and cytomegalovirus is extremely unusual. We have only a rudimentary understanding of such co-infections and their long-term consequences for patients with cancer. CASE PRESENTATION: An 18-year-old young Iranian adult with acute lymphoblastic leukemia presented with abdominal pain, diarrhea, nausea, and vomiting following a recent history of severe acute respiratory syndrome coronavirus-2 infection. The patient never experienced respiratory symptoms, and the chest imaging study was normal on admission. His primary laboratory investigation revealed prerenal azotemia and severe abnormal liver function tests (blood urea nitrogen 32 mg/dL, creatinine 1.75 mg/dL, prothrombin time 66 s, partial thromboplastin time 44.5 s, international normalized ratio 5.14, total bilirubin 2.9 mg/dL, and direct bilirubin 2.59 mg/dL). Cytomegalovirus disease was diagnosed by polymerase chain reaction in his blood and stool samples. The patient's gastrointestinal signs and symptoms improved shortly after receiving intravenous ganciclovir treatment. His gastrointestinal symptoms continued intermittently for weeks despite maintenance valganciclovir prescription, necessitating frequent hospitalizations. The patient was complicated by the recurrence of gastrointestinal symptoms during the sixth hospitalization, even though he had no respiratory symptoms, and the nasopharyngeal test revealed severe acute respiratory syndrome coronavirus-2 Wuhan strain for the first time. Remdesivir and valganciclovir were administrated due to persistent enteritis and evidence of intestinal tissue invasion by severe acute respiratory syndrome coronavirus 2 and cytomegalovirus on multiple intestinal biopsies, which led to partial clinical responses. Cytomegalovirus and severe acute respiratory syndrome coronavirus-2 fecal shedding continued for more than 6 months despite repeated antiviral therapy, and the Wuhan and Alpha strains were also detected in his nasopharyngeal samples through repeated sampling (confirmed by four nasopharyngeal sampling and multiple stool specimens and several intestinal biopsies). Finally, during the Delta-variant (B.1.617.2) outbreak in Iran, the patient was admitted again with febrile neutropenia and decreased level of consciousness, necessitating respiratory support and mechanical ventilation. During the Delta-variant peak, the patient's nasopharyngeal sample once more tested positive for severe acute respiratory syndrome coronavirus 2. The patient died a few days later from cardiopulmonary arrest. CONCLUSION: The coronavirus disease 2019 pandemic has encountered patients with cancer with critical diagnostic and treatment challenges. Patients who are immunocompromised may co-infect with multiple severe acute respiratory syndrome coronavirus-2 strains and cytomegalovirus, and even with timely diagnosis and treatment, the prognosis may be poor.

Investigating the psychological effects of home quarantine during the early peaks of the COVID-19 pandemic: a survey from Iran.

We assessed psychological symptoms among individuals who were quarantined during early coronavirus disease 2019 (COVID-19) peaks. This cross-sectional study was performed during April-October 2020 in Iran. We surveyed 100 individuals with COVID-19 patients in their families and 100 others with health conditions associated with a higher risk of developing critical forms of COVID-19 infection, who have completed at least 14 days of home quarantine. Validated Persian versions of the 21-item Depression, Anxiety, and Stress and 22-item Impact of Event Scale-Revised were used to measure the symptoms of depression, anxiety, stress and distress. The rates of stress, anxiety, depression and quarantine-related distress were 46.5, 48.5, 57.0 and 80.5%, respectively; however, they were not significantly different between the contact and no-contact groups. Female sex and being unemployed were significantly associated with quarantine-related distress, P = 0.007 and P = 0.018, respectively. Independent risk factors for anxiety were a history of medical comorbidity ( P = 0.025) and contact with COVID-19 patients ( P = 0.007). Findings show high prevalence rates of psychological symptoms among quarantined individuals, regardless of whether they had contact with COVID-19 patients or not. Female sex and unemployment were risk factors for quarantine-related distress.

The role of personality traits in following quarantine orders during the COVID-19 pandemic.

Patients' personalities seem to affect their response to the COVID-19 pandemic. This study examined the association of personality traits and characteristics of Iranian COVID-19 outpatients with their compliance to nonmandatory quarantine orders. This cross-sectional study was conducted in 2020-2021 on 97 COVID-19 outpatients. The temperament and character inventory-revised short version (TCI-RS) and a self-report checklist assessing compliance with quarantine orders were used to collect data. SPSS was used to analyze the data and P < 0.05 was considered statistically significant. Of 142 patients who were contacted, 97 participated in the study (68% response rate). The mean age of patients was 39.21 ± 10.27 years and 54 (55.7%) of them were men. Compliance with quarantine orders was correlated with cooperativeness (r = 0.33; P = 0.001), persistence (r = 0.23, P = 0.020), self-transcendence (r = 0.27, P = 0.006) and harm avoidance (r = -0.26, P = 0.008). Linear regression analysis demonstrated persistence (P = 0.034), cooperativeness (P = 0.008) and being married (P = 0.002) as predictors for following the quarantine orders. Lower levels of cooperativeness, persistence, self-transcendence, and higher levels of harm avoidance are associated with noncompliance with quarantine orders. These traits should be considered while persuasive communication to the public is formulated to recognize the target population and increase compliance with nonmandatory quarantine orders.

Personality profile and therapeutic response to lithium carbonate and sodium valproate in mania with psychotic features.

Bipolar disorder is one of the major psychiatric disorders. Therefore, determining the factors that predict mood stabilizer response is important. This study aimed to investigate the relationship between personality profile and the response to lithium carbonate and sodium valproate in patients with psychotic mania. In this study, 50 patients with bipolar I disorder (manic episode with psychotic features) were randomly assigned to receive lithium carbonate (up to a serum level of 0.8-1.5 mEq/L) or sodium valproate (20 mg/kg). After stabilization of acute manic phase, Temperament and Character Inventory was completed by the patients themselves. Fifty subjects completed this study. The mean age ± SD of participants in the sodium valproate group and lithium carbonate group was 32.99 ± 9.94 and 30.73±7.94 years, respectively. The responders to sodium valproate had significantly higher scores in novelty seeking, harm avoidance (P = 0.003 and 0.004, respectively) and lower scores in persistence (P = 0.006) than the non-responders, but the responders to lithium carbonate did not have significantly different personality profiles. The results of the present study revealed that the personality profiles in the inpatients with psychotic mania are related to the responses to sodium valproate, but are irrelevant to the responses to lithium carbonate.

Genetic and molecular biology of autism spectrum disorder among Middle East population: a review.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease, characterized by impaired social communication, executive dysfunction, and abnormal perceptual processing. It is more frequent among males. All of these clinical manifestations are associated with atypical neural development. Various genetic and environmental risk factors are involved in the etiology of autism. Genetic assessment is essential for the early detection and intervention which can improve social communications and reduce abnormal behaviors. Although, there is a noticeable ASD incidence in Middle East countries, there is still a lack of knowledge about the genetic and molecular biology of ASD among this population to introduce efficient diagnostic and prognostic methods. MAIN BODY: In the present review, we have summarized all of the genes which have been associated with ASD progression among Middle East population. We have also categorized the reported genes based on their cell and molecular functions. CONCLUSIONS: This review clarifies the genetic and molecular biology of ASD among Middle East population and paves the way of introducing an efficient population based panel of genetic markers for the early detection and management of ASD in Middle East countries.

Intrathecal autologous bone marrow stem cell therapy in children with autism: A randomized controlled trial.

INTRODUCTION: This study aimed to determine the safety and efficacy of treatment with autologous bone marrow mesenchymal stem cell (BMMSCs) compared with the routine treatment in children with autism spectrum disorder (ASD). METHODS: In this ethically approved randomized controlled trial, 32 ASD children aged 5-15 years were randomly assigned to receive either autologous BMMSC plus rehabilitation therapy and risperidone (intervention group) or rehabilitation therapy and risperidone (control group). Autologous BMMSCs were intrathecally injected in the intervention group twice in 4 weeks. Patients were assessed using childhood autism rating scale (CARS), Gilliam autism rating scale-second edition (GARS-II), and clinical global impression (CGI) at the baseline, as well as 6 and 12 months after intervention. RESULTS: Overall, 32 patients in two groups of intervention (n = 14) and control (n = 18) completed the study, of which 27 (84.4%) were male. Mean age was 9.50 ± 2.14 years. The improvements in CARS total score, GARS-II autism index, and CGI global improvement showed no significant differences between the groups over 12 months. However, the main effect for time*group interaction was significant regarding the CGI-severity of illness, showing a significantly more pronounced improvement in the intervention group (F = 6.719; P = .002). DISCUSSION: Intrathecal injection of autologous BMMSCs seems to be safe and feasible, but has limited clinical efficacy in treatment of children with ASD.

Post-Rhinoplasty Acne, Frequency and Role Players.

INTRODUCTION: Acne is a common complain among post rhinoplasty patients. While rhinoplasty is done for aesthetic reasons and acne expressively affects the individual's appearance, we aimed to study its incidence and role players. MATERIALS AND METHODS: A descriptive cross-sectional study was performed on 152 (143 females and 9 males) patients admitted for rhinoplasty during January 2016 to March 2017. Patients were examined by a dermatologist prior to surgery and 7, 30 and 90 days after rhinoplasty using the Global Acne Grading System and responded to a list of questions on the probable risk factors of acne. Psychological status was examined by the perceived stress scale-14 and the Hospital Anxiety and Depression Scale. RESULTS: The patients' mean age was 28.9±3.82 yrs. Mild and moderate acne were observed in 21.7% (n=33) of the cases in the preoperative visit. The incidence of mild and moderate acne was 36.1%, 42.8% and 23% after 7, 30 and 90 days of surgery, respectively. One week after rhinoplasty, acne manifested in 14.9% of cases with no history of acne. Mean age significantly differed between those with and without post-surgical acne at all post-surgical visits (P> 0.001 and P=0.001 and P=0.015, respectively). Hospital anxiety and depression and perceived stress levels were significantly higher in patients who presented with acne on the first post-surgical visit compared to those with no acne presentations (P=0.04 and P=0.02, respectively). CONCLUSION: External psychological stress may be the main role player in post-rhinoplasty acne. Consultation or referral of patients to an experienced psychologist is highly recommended for a better outcome and fewer complications.

Cost-utility analysis of factor VIII diet therapies prepared using blood plasma vs. recombinant technique for patients with hemophilia A.

BACKGROUND: Hemophilia is known as one of the most common coagulation disorders whose treatment costs are particularly high in developing countries, and about 90% of them are related to factor VIII (FVIII) and direct medical costs (DMCs). Thus, the present study aimed to analyze cost-utility of two FVIII diet therapies prepared using blood plasma and recombinant technique. METHODS: This study was an economic evaluation fulfilled through a cost-utility approach. To this end, a total number of 120 patients were randomly selected using Krejcie & Morgan's Table and then received blood plasma and recombinant FVIII. The decision tree structure was also utilized to estimate economic and clinical outcomes. Moreover, costs were reviewed from societal perspective. Quality-adjusted life year (QALY) was subsequently determined as the measure of effectiveness (MOE). Besides, one-way (univariate) sensitivity analysis was performed to quantify uncertainty effects of the study parameters. The information was ultimately analyzed using the TreeAge Pro 2011 and the Microsoft Office Excel 2010 software. RESULTS: The results revealed that the recombinant diet therapy had higher costs and effectiveness compared with blood-plasma-derived FVIII, so that the mean costs of these two diet therapies were equal to 37,624 and 20,349 purchasing power parity (PPP) $ with utility scores of 0.78 and 0.62; respectively. Since the incremental cost-effectiveness ratio (ICER) for the recombinant medications was over three times of the threshold level, it was considered as overwhelming because of its high cost in spite of its better effectiveness. Moreover, the results of one-way (univariate) sensitivity analysis demonstrated the highest sensitivity to the utility in patients who had been injected with blood-plasma-derived FVIII and had been successfully treated. CONCLUSION: The study results revealed that FVIII prepared using blood plasma for hemophilia A patients had higher cost-effectiveness compared with that made using recombinant technique. Graphical abstract.

Investigating the Attitude of Healthcare Providers, Patients, and Their Families toward "Do Not Resuscitate" Orders in an Iranian Oncology Hospital.

AIM: The decision-making process for do-not-resuscitate (DNR) order has always been challenging. Cultural and religious issues have limited the issuance and execution of DNR orders in Iran. The purpose of this study was to assess the attitude of the nurses, physicians, patients, and their families toward the DNR order. SUBJECTS AND METHODS: In this cross-sectional study, 343 participants (201 patients, 95 family members, and 47 healthcare providers) from Omid Oncology Hospital, Mashhad, Iran, were surveyed during 2017-2018. All the participants were asked to fill in a checklist of demographic information and a validated questionnaire about their attitude toward DNR orders after giving consent. The data were analyzed using SPSS software and values of P < 0.05 were considered statistically significant. RESULTS: Overall, 201 patients and 95 of their family members, as well as 47 healthcare providers (doctors and nurses), were surveyed. The mean age of participants was 48.75 ± 15.62 years. The attitude of the participants regarding the DNR order was significantly different in 10 of the 11 items (P ≤ 0.005). Among the three groups of participants, healthcare providers showed the most positive attitude regarding the DNR order. The attitude of participants regarding the DNR orders was significantly associated with age, occupation status, residential place, educational status, and income level (P < 0.05). CONCLUSIONS: Various factors, such as economic status, level of education, place of residence, and gender, can be effective on decision-making regarding the DNR orders. Unified and sustained education regarding moral and cultural issues can be helpful in the reconciliation of the attitudes between caregivers and patients.

An immunocompetent patient with a nonsense mutation in NHEJ1 gene.

BACKGROUND: DNA double-strand breaks (DSBs) are among the most deleterious types of DNA damage. DSBs are repaired by homologous recombination or non-homologous end-joining (NHEJ). NHEJ, which is central to the process of V(D)J recombination is the principle pathway for DSB repair in higher eukaryotes. Mutations in NHEJ1 gene have been associated with severe combined immunodeficiency. CASE PRESENTATION: The patient was a 3.5-year-old girl, a product of consanguineous first-degree cousin marriage, who was homozygous for a nonsense mutation in NHEJ1 gene. She had initially presented with failure to thrive, proportional microcephaly as well as autoimmune hemolytic anemia (AIHA), which responded well to treatment with prednisolone. However, the patient was immunocompetent despite having this pathogenic mutation. CONCLUSIONS: Herein, we report on a patient who was clinically immunocompetent despite having a pathogenic mutation in NHEJ1 gene. Our findings provided evidence for the importance of other end-joining auxiliary pathways that would function in maintaining genetic stability. Clinicians should therefore be aware that pathogenic mutations in NHEJ pathway are not necessarily associated with clinical immunodeficiency.

Expression of antiapoptotic proteins livin and survivin in pediatric AML patients, as prognostic markers.

OBJECTIVE: Survivin and livin are highly expressed in various malignancies and their expression levels may be related to unfavorable prognosis. The aim was to investigate the relationships of these two markers with some prognostic factors and with survival of the children with acute myeloid leukemia (AML). METHODS: Livin and survivin expression was investigated quantitatively by immunohistochemistry staining technique in 43 primary formalin-fixed, paraffin-embedded bone marrow blocks in pediatric age group (<18 years). RESULTS: Both survivin and livin were expressed in 81.4% of AML patients. Livin expression showed significant positive association with high level of primary WBC (p = .002). Survivin expression showed significant positive correlations with risk of relapse (p ≤ .001) and high level of primary WBC (p = .003). The relationship of overall survival (OS) of the patients with livin and survivin expression, were investigated separately in disease subtypes. Significant association was observed between survivin expression and shorter OS regardless of subtypes including acute promyelocytic (APL) (p = .01) and nonacute promyelocytic leukemia (non-APL) (p = .008). Also, significant association of livin expression with shorter OS was detected, but only in APL subgroup (p = .046). Nevertheless, in Cox regression model after adjusting for disease subtypes, stage and cytogenetics; survivin and livin showed no significant association with OS (p > .05). CONCLUSION: Livin and survivin showed significant associations with some poor prognostic factors of AML. Although survivin in both subtypes and livin in non APL subtype, showed a significant relationship with shorter OS, none of them was determined as independent prognostic factors. Further studies with larger sample size are suggested.