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1.
Hum Genomics ; 15(1): 17, 2021 03 12.
Artigo em Inglês | MEDLINE | ID: mdl-33712060

RESUMO

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.


Assuntos
Transtorno do Espectro Autista/genética , Transtornos do Neurodesenvolvimento/genética , Transtorno de Comunicação Social/genética , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/patologia , Função Executiva/fisiologia , Humanos , Oriente Médio/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/patologia , Prognóstico , Transtorno de Comunicação Social/epidemiologia , Transtorno de Comunicação Social/patologia
2.
BMC Med Genet ; 20(1): 45, 2019 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-30898087

RESUMO

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.


Assuntos
Códon sem Sentido , Enzimas Reparadoras do DNA/genética , Proteínas de Ligação a DNA/genética , Imunocompetência , Pré-Escolar , Consanguinidade , Feminino , Humanos , Mutação
3.
Indian J Palliat Care ; 25(3): 440-444, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31413462

RESUMO

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.

4.
BMC Med Genet ; 19(1): 123, 2018 07 20.
Artigo em Inglês | MEDLINE | ID: mdl-30029636

RESUMO

BACKGROUND: Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency due to mutations in Wiskott-Aldrich syndrome (WAS) gene. WAS gene is encoded for a multifunctional protein with key roles in actin polymerization, signaling pathways, and cytoskeletal rearrangement. Therefore, the impaired protein or its absence cause phenotypic spectrum of the disease. Since identification of novel mutations in WAS gene can help uncover the exact pathogenesis of Wiskott-Aldrich syndrome, the purpose of this study was to investigate disease causing-mutation in an Iranian male infant suspicious of this disorder. CASE PRESENTATION: The patient had persistent thrombocytopenia from birth, sepsis, and recurrent gastrointestinal bleeding suggestive of both Wiskott-Aldrich syndrome and chronic colitis in favor of inflammatory bowel disease (IBD). To find mutated gene in the proband, whole exome sequencing was performed for the patient and its data showed a novel, private, hemizygous splice site mutation in WAS gene (c.360 + 1G > C). CONCLUSIONS: Our study found a novel, splice-site mutation in WAS gene and help consider the genetic counselling more precisely for families with clinical phenotypes of both Wiskott-Aldrich syndrome and inflammatory bowel disease and may suggest linked pathways between these two diseases.


Assuntos
Colite/genética , Mutação/genética , Sítios de Splice de RNA/genética , Proteína da Síndrome de Wiskott-Aldrich/genética , Síndrome de Wiskott-Aldrich/genética , Éxons/genética , Humanos , Lactente , Doenças Inflamatórias Intestinais/genética , Irã (Geográfico) , Masculino , Proteínas/genética , Trombocitopenia/genética
5.
Pediatr Hematol Oncol ; 35(4): 250-256, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-30588872

RESUMO

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.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Biomarcadores Tumorais/metabolismo , Proteínas Inibidoras de Apoptose/metabolismo , Leucemia Mieloide Aguda/genética , Proteínas de Neoplasias/metabolismo , Survivina/metabolismo , Criança , Estudos de Coortes , Feminino , Humanos , Leucemia Mieloide Aguda/metabolismo , Leucemia Mieloide Aguda/patologia , Masculino , Prognóstico , Análise de Sobrevida
6.
Iran J Med Sci ; 43(1): 65-69, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29398753

RESUMO

Anogenital warts (AGW) are one of the most common venereal diseases. Psychosocial complications and quality of life (QoL) of AGW patients have been considered only in recent years. Herein, the QoL and psychopathology in patients with AGW are evaluated. In total, 37 AGW patients and 37 healthy controls were recruited in the present cross-sectional study. All participants were provided with the symptom checklist 90-R (SCL-90-R) and short-form (SF-36) questionnaires. All analyses were performed using the SPSS software, version 16.0.1 for Windows. QoL was not significantly different between the study groups (P=0.12). The data showed that mental health, general health, and social functioning were significantly decreased in AGW patients (P<0.05). In addition, AGW patients were significantly more depressed and anxious than the control group (P=0.01 and P=0.04, respectively). AGW has adverse effects on psychological and QoL elements of the infected individuals. Psychological factors should be carefully considered when treating a patient with the HPV virus; hence, referral to a psychiatrist seems mandatory in these cases.

7.
BMC Med Genet ; 18(1): 49, 2017 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-28468610

RESUMO

BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis. Therefore, genes involved in these steps play important roles in the pathogenesis of HLH disease which include PRF1, UNC13D (MUNC13-4), STX11, and STXBP2 (MUNC18-2). CASE PRESENTATION: Here, we report a novel missense mutation in an 8-year-old boy suffered from hepatosplenomegaly, hepatitis, epilepsy and pancytopenia. The patient was born to a first-cousin parents with no previous documented disease in his parents. To identify mutated gene in the proband, Whole Exome Sequencing (WES) utilizing next generation sequencing was used on an Illumina HiSeq 2000 platform on DNA sample from the patient. Results showed a novel deleterious homozygous missense mutation in PRF1 gene (NM_001083116: exon3: c. 1120 T > G, p.W374G) in the patient and then using Sanger sequencing it was confirmed in the proband and his parents. Since his parents were heterozygous for the identified mutation, autosomal recessive pattern of inheritance was confirmed in the family. CONCLUSIONS: Our study identified a rare new pathogenic missense mutation in PRF1 gene in patient with HLH disease and it is the first report of mutation in PRF1 in Iranian patients with this disease.


Assuntos
Genes Recessivos , Linfo-Histiocitose Hemofagocítica/genética , Mutação de Sentido Incorreto , Perforina/genética , Criança , Feminino , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Linhagem
8.
J Clin Psychopharmacol ; 37(1): 54-60, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27930500

RESUMO

BACKGROUND: Posttraumatic stress disorder (PTSD) is one of the chronic and disabling psychiatric disorders, particularly in combat veterans. In a case series, rivastigmine was suggested to be an effective augmentation in treatment of PTSD. The aim of the present study was to evaluate this finding in a randomized controlled trial. METHOD: A 12-week, double-blind, placebo-controlled clinical trial was performed on 36 male patients (aged 42-60 years) diagnosed with chronic, combat-related PTSD. Subjects were screened for apparent cognitive deficits by means of Mini-Mental State Examination. All patients received selective serotonin reuptake inhibitors plus sodium valproate for 4 weeks and then reevaluated. Subjects who did not show adequate response were randomly assigned into 3 groups receiving rivastigmine (up to 6 mg/d), placebo, or the prior treatment regimen. Efficacy of medication was measured by administering PTSD Check List-Military Version at baseline and weeks 2, 4, 8, and 12. Collected data were analyzed by analysis of variance and repeated measurement. Reported differences were considered significant at the level of 0.05 or less. RESULTS: The 3 groups showed statistically significant reductions in the total PTSD Check List-Military Version, avoidance subscale, and the reexperience subscale but not in the hyperarousal subscale. No significant differences were found between the 3 groups. CONCLUSIONS: In contrast to the previous case series, findings of the current study did not support the efficacy of adjunctive rivastigmine in treatment of PTSD. This hypothetically could be due to the fact that all the study's subjects scored higher than 25 on Mini-Mental State Examination.


Assuntos
Inibidores da Colinesterase/farmacologia , Distúrbios de Guerra/tratamento farmacológico , GABAérgicos/farmacologia , Avaliação de Resultados em Cuidados de Saúde , Rivastigmina/farmacologia , Inibidores Seletivos de Recaptação de Serotonina/farmacologia , Transtornos de Estresse Pós-Traumáticos/tratamento farmacológico , Ácido Valproico/farmacologia , Adulto , Inibidores da Colinesterase/administração & dosagem , Doença Crônica , Método Duplo-Cego , Sinergismo Farmacológico , GABAérgicos/administração & dosagem , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Rivastigmina/administração & dosagem , Inibidores Seletivos de Recaptação de Serotonina/administração & dosagem , Ácido Valproico/administração & dosagem
10.
Iran J Med Sci ; 42(4): 392-396, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28761206

RESUMO

Autism is a neurodevelopmental disorder originating from early childhood; nevertheless, its diagnosis is in older ages. In addition to heredity, environmental factors are also of great significance in the etiology of the disease. Dermatoglyphic patterns, albeit varied, remain stable for a lifetime and yield a large number of patterns upon examination. Studies have shown a significant association between dermatoglyphics and some diseases, especially genetic ones. We compared fingerprints between patients with autism and normal individuals in a Fars population living in Khorasan-Razavi Province, Iran, in 2015. The right and left hand fingerprints of 104 autistic individuals (case group; age range=5-15 y) were collected using a fingerprint scanner. The same process was performed for 102 healthy individuals, in the age range of 6 to 25 years. All dermatoglyphic patterns and ridge counts were determined. The data were analyzed using the Mann-Whitney nonparametric test and binomial distribution. There was a significant difference in the distribution of the dermatoglyphic patterns on the right and left thumbs and the index fingers between the case and control groups (P<0.05). The patients had a significantly higher count of loops on their right and left thumbs and their index fingers. A significant decrease in ridge counts for the right and left thumbs and the index fingers was observed in the patients compared to the controls. The results suggested that the patterns were associated with the risk of autism. The patterns may be drawn upon as biometric parameters in the screening of children with autism.

11.
Subst Use Misuse ; 49(13): 1751-8, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25026387

RESUMO

This study was conducted to determine the frequency of anabolic-androgenic steroids consumption in male students studying at the university and their awareness, attitude, and role of sports activities; the present descriptive study was conducted on 271 volunteers in 2008. The data collected by self-report questionnaires was analyzed by descriptive inferential statistics. The prevalence of consumption was 3.3%, and it was significantly higher in those with a history of bodybuilding or athletic performance. The overall awareness rate was low, and the attitude was too optimistic. It seems that unawareness, incorrect attitude, and history of athletic performance increases the risk of consumption.


Assuntos
Anabolizantes/efeitos adversos , Androgênios/efeitos adversos , Atitude do Pessoal de Saúde , Dopagem Esportivo/estatística & dados numéricos , Estudantes de Medicina/psicologia , Adulto , Dopagem Esportivo/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Prevalência , Esportes/psicologia , Estudantes de Medicina/estatística & dados numéricos , Levantamento de Peso/psicologia , Adulto Jovem
12.
Int Clin Psychopharmacol ; 39(2): 70-81, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37781789

RESUMO

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.


Assuntos
Telefone Celular , Estudantes de Medicina , Humanos , Feminino , Masculino , Estudantes de Medicina/psicologia , Qualidade do Sono , Depressão/epidemiologia , Ansiedade/epidemiologia , Ansiedade/psicologia , Dependência de Tecnologia
13.
Health Sci Rep ; 7(5): e2100, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38725558

RESUMO

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.

14.
Blood Res ; 59(1): 16, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38625415

RESUMO

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.

15.
J Clin Psychopharmacol ; 33(5): 706-9, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23948788

RESUMO

BACKGROUND: After 23 years of the end of the Iran-Iraq war, the country is left with many patients with chronic posttraumatic stress disorder (PTSD) who need close psychiatric services and are in need for recurrent hospitalization. So far, there are no reports of the rivastigmine use in PTSD patients. We report dramatic reduction of symptoms in 3 veterans with chronic PTSD, after rivastigmine augmentation. CASE PRESENTATION: This report describes the efficacy of rivastigmine as an add-on to standard treatment of 3 Iranian male veterans with chronic PTSD (aged 52, 46, and 45 years) with severe active symptoms in all 3 dimensions of the disorder. Although they had gone through many approved drug treatments (selective serotonin reuptake inhibitors, tricyclic antidepressants, mood stabilizers, antipsychotics, benzodiazepines, ß-blockers, and so on), from the beginning of the disorder, their recovery remained poor (PTSD Checklist-Military Version [PCL-M] scores were 67, 71, and 73 before rivastigmine add-on). Rivastigmine was added to the ongoing therapeutic regimens of the patients for 6 months.Evaluating their condition with PCL-M after 1 and 6 months of treatment showed a significant improvement in patients with PTSD (PCL-M scores were 37, 40, and 47 and dropped to 30, 27, and 31, respectively). Hyperarousal symptoms of PTSD in patients are noted to be the most improved. The rivastigmine add-on experience did not report any adverse effects. CONCLUSIONS: The present study showed that rivastigmine is an effective and safe add-on to treatment of patients with chronic PTSD. This effect could be due to improved cognitive status or cholinergic-adrenergic balance adjustment in patients.


Assuntos
Inibidores da Colinesterase/uso terapêutico , Fenilcarbamatos/uso terapêutico , Transtornos de Estresse Pós-Traumáticos/tratamento farmacológico , Saúde dos Veteranos , Lista de Checagem , Doença Crônica , Quimioterapia Combinada , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Indução de Remissão , Rivastigmina , Índice de Gravidade de Doença , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Transtornos de Estresse Pós-Traumáticos/fisiopatologia , Transtornos de Estresse Pós-Traumáticos/psicologia , Fatores de Tempo , Resultado do Tratamento
16.
Hemoglobin ; 37(1): 74-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23181733

RESUMO

Preventing the birth of children with ß-thalassemia major (ß-TM) is an important health issue. We investigated family planning practices and related factors among families with affected children. We selected a total of 569 parents from the parents of patients with ß-TM who were registered at thalassemia referral clinics in southern Iran. Information was recorded regarding demographic variables, socioeconomic status and family planning practices. The correlations between family planning practice and related factors were evaluated. Approximately 96.0% of the parents (546) were practicing contraception at the time of the study. Only 12.8% of the families whose first child had ß-TM decided to have no more children. The most frequent contraceptive method was tubal ligation (TL) (37.5%) followed by oral contraceptive pills (OCP) (31.5%). Higher education level of the mothers and higher economic status of the families were found to be related with the lower numbers of children with ß-TM (p = 0.001). We found a high percentage of safe contraception being used by at-risk couples. It seems that educational programs have been effective in influencing family planning practices. Further attention should be devoted to increasing the knowledge of at-risk couples with a greater focus on parents of low socioeconomic status. Because of cultural factors in Iran, many of these at-risk couples opted to achieve the desired family size, so implementation of a well-organized prenatal diagnostic system seems necessary.


Assuntos
Serviços de Planejamento Familiar/métodos , Talassemia beta/epidemiologia , Criança , Anticoncepção , Estudos Transversais , Escolaridade , Feminino , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Fatores Socioeconômicos , Talassemia beta/prevenção & controle
17.
Iran J Med Sci ; 38(3): 271-4, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24174700

RESUMO

Hepatic calcification is usually associated with infectious, vascular, or neoplastic processes in the liver. We report the first case of beta-thalassemia major with isolated diffuse hepatic calcification in a 23 year old woman, who had been transfusion-dependent since the age of 6 months. She was referred to our center with a chief complaint of abdominal pain. Computed tomography scan of the abdomen revealed diffuse hepatic calcification in the right, left, and caudate lobes of the liver. Her medical history disclosed hypoparathyroidism as well as chronic hepatitis C virus infection, which was successfully treated but led to early micronodular cirrhosis on liver biopsy. Other studies done to search for the cause of hepatic calcification failed to reveal any abnormalities. We suspect that hypoparathyroidism caused liver calcification, and should be, therefore, considered in the differential diagnosis of hepatic calcification if other causative factors have been ruled out.

18.
Comput Biol Med ; 158: 106853, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37030264

RESUMO

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.


Assuntos
Eletroencefalografia , Processamento de Sinais Assistido por Computador , Humanos , Eletroencefalografia/métodos , Máquina de Vetores de Suporte , Entropia
19.
J Biomed Phys Eng ; 13(2): 181-192, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37082549

RESUMO

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.

20.
Curr Drug Discov Technol ; 20(5): e110423215660, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37055899

RESUMO

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.


Assuntos
Antipsicóticos , Síndrome Metabólica , Esquizofrenia , Humanos , Animais , Antipsicóticos/efeitos adversos , Síndrome Metabólica/induzido quimicamente , Síndrome Metabólica/tratamento farmacológico , Olanzapina/uso terapêutico , Esquizofrenia/tratamento farmacológico , Aumento de Peso
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