Immunology and Genetics Journal

Comparison of the Therapeutic Effect of Erythropoietin Alone and with the Combination of L-Carnitine on Hemoglobin Levels in Hemodialysis Patients

Vahid Sheikhi — 2024-11-27

Background: L-carnitine deficiency causes various pathological conditions such as muscle weakness and erythropoietin-resistant anemia in hemodialysis patients. The present study was conducted to compare the therapeutic effect of erythropoietin alone and with the combination of L-carnitine on anemia in hemodialysis patients.

Method: In this clinical trial, 24 patients undergoing hemodialysis at Imam Ali Hospital were selected for the study. The eligible participants were randomly assigned into two equal groups: one group received erythropoietin treatment alone, while the other group was treated with a combination of L-carnitine and erythropoietin. Blood samples were collected from all patients for a complete blood count (CBC), and their hemoglobin levels were measured both before and after the treatment.

Results: The mean age of patients in the erythropoietin-only treatment group was 18.66±3.70 years, while in the group receiving both erythropoietin and L-carnitine, it was 23.83±5.70 years. A significant difference in age was found between the two groups (P=0.015). However, there was no significant difference in hemoglobin levels between the groups before treatment (P=0.327). After treatment, the mean hemoglobin levels in the erythropoietin group and the combination therapy group were 9.8±1.6 and 10.6±3.9 g/dL, respectively, with no significant difference observed between the two groups in terms of hemoglobin (P=0.324).

Conclusion: Our findings indicated that treatment with erythropoietin alone, as well as in combination with L-carnitine, did not lead to a significant improvement in blood parameters in hemodialysis patients with anemia.

Investigation of the Rs722503 Polymorphism in the FLT1 Gene and Its Association with Preeclampsia Susceptibility in the East Azerbaijan Province, Iran

Shalaleh Aghaei — 2024-11-27

Background: Genetic predisposition plays a crucial role in the development of preeclampsia, with the FLT1 gene implicated in angiogenesis and endothelial dysfunction, both central to the disease's pathophysiology. This study aimed to investigate the relationship between the rs722503 polymorphism of the FLT1 gene and susceptibility to preeclampsia in pregnant women in East Azerbaijan Province, Iran.

Method: In this case-control study, 24 fetal cord blood samples from pregnant women, including 13 with preeclampsia and 11 healthy controls, were recruited from healthcare centers in East Azerbaijan Province. Genomic DNA was extracted from blood samples, and the rs722503 polymorphism in the FLT1 gene was analyzed using polymerase chain reaction (PCR). The PCR products were then subjected to electrophoresis to observe the desired polymorphism. Statistical analysis was performed to assess the association between the rs722503 polymorphism and preeclampsia risk

Results: A significant association was found between the rs722503 polymorphism of the FLT1 gene and the risk of preeclampsia. Women with the TT genotype had a higher risk of developing preeclampsia compared to those with the CC genotype (P-value < 0.05). The frequency of the T allele was also significantly higher in the preeclampsia group compared to controls

Conclusion: The rs722503 polymorphism of the FLT1 gene may be a genetic risk factor for preeclampsia in the population of East Azerbaijan Province. These findings could contribute to early identification of at-risk individuals and potential development of targeted therapeutic strategies.

Clinical Characteristics, and Antibiotic Effectiveness in the First 48 Hours in Children Under 5 Years of Age with Bacterial Dysentery

Aghil Miri — 2024-11-27

Background: Bacterial dysentery is diarrhea with blood (plus or minus mucus), indicating an invasive infection. With effective antibiotic treatment, clinical improvement occurs within 48 hours, which leads to a reduction in the risk of serious complications and death, a shorter duration of illness, and a reduction in transmission. This study was conducted to investigate the clinical features, risk factors, and effectiveness of antibiotics in the first 48 hours in children under 5 years old with bacterial dysentery.

Method: In this cross-sectional descriptive-analytical study, children less than 5 years old with bacterial dysentery were hospitalized in Ali Ibn Abitaleb and Ali Asghar Hospital in Zahedan, Iran. After obtaining the necessary permits from the ethics committee, the researcher extracted the information on 85 cases of patients diagnosed with bacterial dysentery, taking into account the entry and exit criteria in an accessible way. The information was entered into the questionnaire.

Results: The mean age of the patients was 31.17±16.04 months. 52.9% of patients were girls (n=45). Fever was observed in 100% of patients(n=85). The severity of mild, moderate, and severe dehydration was observed in 36.47%, 40%, and 25.53% of the patients, respectively. The most injected antibiotic was ceftriaxone. White blood cell (WBC) levels decreased significantly after receiving treatment (antibiotic). (before treatment: 13.22±9.91 and after treatment: 8.57±2.71 cells/microliter, P-value=0.001).

Conclusion: Our study showed that antibiotic treatment in bacterial dysentery effectively reduces the serum level of WBC. It is suggested that educational programs for mothers in the field of child nutrition be provided and that the effectiveness of different types of antibiotics be compared in future studies.

The RAG1 Mutation Presenting as Early Onset SLE in an Iranian Patient

Taher Cheraghi — 2024-11-27

It has been established that mutations of the Recombinase Activating Genes (RAG1 and RAG2) are responsible for classic T-B-NK+ severe combined immunodeficiency (SCID). On the other hand, it has now become evident that certain mutations within these genes can also lead to other forms of combined immunodeficiency, antibody deficiency, and even autoimmunity. In this report, we present a case involving a 9-month-old female patient who presents with clinical and laboratory findings indicative of systemic lupus erythematosus (SLE). Following the diagnosis of early- onset SLE and considering the presence of concurrent infections, it was considered necessary to investigate potential underlying monogenic disorders associated with inborn errors of immunity. Immunological evaluations demonstrated a combined immunodeficiency and whole exome sequencing confirmed that the patient has a mutation in the RAG1 gene.

Asthma-Related Plastic Bronchitis: A Challenging Diagnosis

Mohammad Reza Modaresi — 2024-11-27

Plastic bronchitis (PB) is a rare but potentially life-threatening condition characterized by the formation of bronchial casts, leading to airway obstruction. It is associated with several underlying conditions, including congenital heart disease, respiratory infections, and asthma. Due to its non-specific symptoms, PB is often misdiagnosed or underdiagnosed. We present a case of a 10-year-old boy with a one-year history of recurrent productive cough, dyspnea, and fever, unresponsive to albuterol treatment. Chest X-rays revealed atelectasis of the left lower lung, which persisted despite airway clearance techniques. High- resolution computed tomography (HRCT) showed collapse consolidation of the left lung. Bronchoscopy revealed bronchial obstruction by a rubbery cast, which was successfully removed. Pathologic analysis of the cast showed eosinophils, neutrophils, and Charcot-Leyden crystals. The patient was treated with inhaled corticosteroids and short-acting beta-agonists, leading to complete resolution of symptoms. Follow-up after six months showed no recurrence of symptoms. This case highlights the importance of considering PB in patients with recurrent respiratory symptoms and atelectasis, particularly when foreign body aspiration or common respiratory diseases have been ruled out. Early diagnosis and management, including cast removal and treatment of underlying conditions, are crucial to preventing complications.