Tehran University Medical Journal
Year:2023 | Volume:81 | Issue:2|Papers Count:11

2Thalassemia is an autosomal recessive hereditary disease that occurs due to a decrease in the synthesis of Please recheck. In beta thalassemia, defects in β-globin synthesis lead to an imbalance of β- and α-globin chains and the accumulation of α4 chains in the erythroid precursor which leads to ineffective erythropoiesis, shortened red blood cell survival, and finally clinical symptoms such as delayed sexual and physical maturation, endocrine dysfunction, cardiomyopathy, liver disease, bone deformities and hepatosplenomegaly. Current treatments such as transfusion, iron chelating agents and allogeneic stem cell hematopoietic transplantation have limitations in their use, including iron overload, lack of a human leukocyte antigen (HLA) matched compatible donor, and graft versus host disease (GVHD). Gene therapy is a new therapeutic option for beta thalassemia patients that induces the continuous expression of beta globin chains in the patient’s hematopoietic stem cells. The idea of gene therapy was first proposed in the early 1970s, and the ultimate goal of this treatment method is to express the defective gene in the target cell in a way that can reduce the symptoms of the disease or eliminate them (symptoms) altogether. There are two general methods for gene therapy: the integrating vector, in which the desired gene is inserted into the genome of the target cell and its lifelong expression follows, is the non-integrating method, in which the vector doesn’t integrate into the genome of the target cell and the cytoplasmic form enables gene expression. The first beta thalassemia gene therapy was performed in France in 2006, and in this clinical trial, the first patient with the E/β0 thalassemia was treated at the age of 18. Gene therapy for beta-thalassemia has been approved by the food and drug administration in 2022 for patients aged 12 years and older who have a non β0/β0 phenotype. It seems that this therapeutic option is the definitive treatment method for blood transfusion-dependent beta-thalassemia patients.     However, this treatment method still has limitations: high cost, sensitivity of lentiviral vector production, and the possibility of integration of the vector near the proto-oncogene and its activation are some of them.

2COVID-19 is a major worldwide health concern that is linked to severe morbidity and mortality. In contrast to the majority of COVID-19 patients who experience moderate symptoms, about 5% of the patients experience serious manifestations such as acute respiratory distress syndrome, septic shock, and fatal organ failure. Although pneumonia is the main symptom of COVID-19, other organs, such as the kidneys, might also be affected by the condition. Acute kidney injury is one of the most frequent extrapulmonary symptoms of severe COVID-19. Indeed, it has been suggested that COVID-19 affects the kidney as the second most common organ after the lungs. This is due to the fact that the virus attaches to angiotensin-converting enzyme 2 (ACE2) receptors, which have significant expression in the kidney, before entering the host cells. It is important to follow up and monitor patients with COVID-19 for the occurrence of kidney damage, as timely treatment measures will lead to better clinical results and lower patient mortality. Even minor renal function impairment is a distinct risk factor for COVID-19 infection, hospitalization, and death. Furthermore, SARS-CoV-2 infections can raise mortality for those with underlying renal disorders as well as make it more difficult to treat and care for them. It can also produce new kidney damage. Kidney tubular damage is the predominant symptom of SARS-CoV-2 infection's impact on the kidney, with proteinuria as the primary clinical symptom. The pathogenesis of kidney and damage in COVID-19 patients is varied and complicated. In COVID-19 patients, the virus has the ability to infect renal tubular epithelium and podocytes directly, which is linked to Bowman's capsule protein leakage, acute tubular necrosis, mitochondrial dysfunction, and collapsing glomerulopathy. Other causes of acute kidney injury (AKI) in COVID-19 patients, including cytokine storm, lymphopenia, and macrophage activation syndrome, have been caused by SARS-CoV-2-induced immune response dysregulation. Interactions between organs, endothelial dysfunction, hypercoagulability, sepsis, and rhabdomyolysis are considered other major AKI mechanisms. In the present review, we focus on the role of each of these factors involved in AKI in COVID-19 patients.

2Background: Colorectal cancer (CRC) is one important cause of mortality in the world. In the common staging systems of CRC, many biological behaviors of the tumor that determine the prognosis are not defined. Risk stratification is becoming increasingly important in low-stage CRC, because these patients do not undergo adjuvant therapy unless poor prognostic factors such as vascular invasion (VI), perineural invasion (PI) and serosal involvement (SI) are present. Accurate evaluation of these factors in CRC specimens is still challenging. Methods: In this study, we evaluated the detection rate of VI, PI and SI in 180 patients of CRC who underwent surgical resection based on basic pathology reports, review of hematoxylin and eosin (H&E) slides with considering morphologic clues such as “protruding tongue” and “orphan artery” signs, and elastin stain for detection of VI. In addition, the stage of the disease, pT stage, tumor location, tumor type and grade were categorized, separately. We used the Fisher’s exact test for comparing variables between the two groups. P<0. 05 was considered significant. All data analyzed using SPSS version 26. Results: Overall, the detection rate of VI was significantly increased in review of H&E slides with considering morphologic clues (P=0. 019) and also using elastin stain (P<0. 05) than basic pathology reports, but no significant differences observed in PI (P=0. 118) and SI (P=1. 00) between the first basic pathology reports and review of H&E slides. Also, significant differences observed in VI, PI and SI based on AJCC stage, pT stage and grade of tumor (P<0. 05). Conclusion: Considering the prognostic importance of VI detection in the treatment of patients of CRC, Slide review with attention to the morphologic clues such as “protruding tongue” and “orphan artery” signs and elastin staining could be used for better detection of VI in patients of CRC in routine surgical specimens

2Background: Febrile seizures are the most common cause of seizures in children under 5 years of age. Central nervous system infections are an important differential diagnosis of febrile seizures. Apart from infections, CSF characteristics are affected by many factors including the cause, type and duration of seizures. This study was designed to determine the cerebrospinal fluid (CSF) indices, including white blood cells (WBC), polymorphonuclear cells (PMN) count, and levels of protein and glucose in the CSF of children with fever-induced seizures. Methods: The present study is a descriptive study that evaluated the results of CSF analysis in 56 children with febrile seizures admitted to Imam Sajjad Hospital in Yasouj from March 2012 to 2013. In the present study, CSF analysis was performed in children with a diagnosis of febrile seizures. In order to collect information from a pre-designed form that includes demographic information (age and gender), degree of fever, and information related to CSF indices including WBC, PMN and levels of protein and glucose in CSF, which have been extracted and recorded, statistical methods are used in this study to express descriptive statistics such as mean, standard deviation, number, percentage, etc. Results: 56 children with a diagnosis of convulsive fever with a mean age of 21. 4±14 months were evaluated. 37. 5% (21 individuals) of the study population were females and 62. 5% (53 individuals) were males. Among them, 33 individuals had low-grade fever and 23 individuals had high-grade fever. In 10. 7%, the number of WBCs was more than 5. The amount of protein obtained was in the normal range, between 20 and 50 mg/dl, in 57. 1% of cases. However, a significant percentage (39. 3%) of CSF liquid protein was below 20 mg/dl. CSF fluid glucose levels were within the normal range at 91. 1%. Conclusion: Based on the results of this study, febrile seizures may be associated with low protein levels in the CSF. However, due to the limited sample size in our study, similar studies with higher sample sizes are recommended

2Background: Traumatic Spinal Cord Injury (TSCI) is one of the catastrophic events, the rate of which has been growing compared to the past decades. Complications caused by TSCI have a wide spectrum and can range from complete paralysis to numbness of the limbs. Additional to the injury severity and disability of the patient, the recovery rate depends on the treatment strategies. Despite extensive efforts and research in this field, there are still few treatment options for TSCI patients. Controversial results have been reported, however, spinal cord decompression is the only certainty for the treatment of these patients. In the present study, patients with thoracic and lumbar fractures were undergone decompression, less and more than 24 hours, and the recovery rate (RR) was compared after 6 months. Methods: In this study, patients with lumbar and thoracic fractures who were referred to the neurosurgery department of Ahvaz Golestan Hospital during May 2019 to December 2021 were included. Decompression was performed at the fracture level as a total and at the upper and lower levels of the fracture as a partial decompression. To evaluate fine motor movements, picking up a small object with toes and following a rectangular path were used. Also, the gross motor movements, upper and lower proximal and distal muscle forces were measured. Results: 160 patients including 133 men (83. 1%) and 16. 9% women (27) with 36±12 years mean age were included. The most fracture location was lumbar (53. 1%), followed by the thoracic (43. 1%) and fractures in both regions (3. 8%). The most injured  vertebras were L1 (27. 5%) and T12 (18. 8%). Six months later, 61. 9% of patients had a good score for removing a small object with toe, of which 67. 5% belonged to patients with<24 hours surgery (P=0. 01). Also, RR for ability to follow a rectangle (P=0. 017) and lower limit gross motor were significantly better in patients with<24 surgery (P=0. 02). However, no significant difference was found between the two groups for improved sensations (P<0. 05). Conclusion: This study showed that decompression<24 hours in TSCI is associated with a significant improvement in lower fine movements

2Background: Sore throat after surgery is the second most common cause of complications in recovery. It causes decreased patient satisfaction, and it affects patients’ well-being after surgery. The aim of this study was to compare the effects of ketamine and magnesium sulfate gargle on sore throat after laminectomy. Methods: In this randomized clinical trial, 69 candidates for laminectomy patients in Shohade-Tajrish hospital from June 2021 to December 2022 were randomly assigned to three groups of ketamine (n=25), magnesium (n=23) and control (n=21). The Magnesium group received magnesium sulfate gargle (30 mg/kg in a total of 30 ml 5% Dextrose water), Ketamine gargle (0. 5 mg/kg in a total of 30 ml 5% Dextrose water), and the control group received 30 ml 5% Dextrose water gargle. Standard similar anesthesia protocols were applied for all patients. In PACU (0) and 2, 4, 24 hours afterward sore throat was assessed using a visual analog scale (VAS) scoring. Results: The study showed that the incidence of sore throat in the magnesium group was lower than ketamine. Comparison of the three groups at the time of recovery (0), 2, 4, and 24 hours after surgery showed that the differences between the three groups were significant in terms of sore throat. Also, the difference in the incidence of sore throat within each group in the four times in all three groups was statistically significant (P=0. 001). There was no statistically significant difference between age, gender, body mass index, heart rate, blood pressure, duration of intubation, duration of surgery and anesthesia, size of laryngoscopy insertion and Cormack and Lehane score in the three studied groups. A drop in systolic blood pressure was observed in the both groups half an hour after the operation, which was statistically significant. Changes in diastolic blood pressure were significant only in the magnesium group. Conclusion: The preventive effect of "magnesium sulfate gargle" on sore throat after laminectomy is much better than "ketamine" or "placebo" gargle

2Background: Today, the health of mothers and babies is of particular importance in health systems. So far, various interventions have been implemented to improve the health of pregnant mothers. The present study aimed to compare the effect of Entonox gas and Sufentanil epidural anesthesia in labor pain on the umbilical cord blood gas analysis and neonatal Apgar score. Methods: The present study is a clinical trial on 800 pregnant women It was done in April 2020 to January 2022 at Shahid Akbarabadi Hospital. Mothers were divided into two groups: spinal anesthesia and the group receiving Entonox gas. To measure the effectiveness, Apgar scores were measured at 1 and 5 minutes along with BE, HCO3, and PCO2 parameters. Two independent sample t-tests and ANOVA were used in SPSS version 22 software to analyze the data. Results: The results of the study showed that the average age of mothers participating in the study was 27 years, and the average Apgar score of 1 and 5 minutes in the group of mothers receiving Entonox gas and spinal anesthesia was 9. 9 and 8. 6, respectively. Also, the average Apgar score at minutes 1 and 5 in the group of mothers with spinal anesthesia was 9. 8 and 8. 2, respectively. The results of the analysis and comparison of the parameters obtained from the arterial gases of the umbilical cord of newborns were not significantly different between both groups of mothers. Also, no significant difference was found in Apgar scores between both groups of mothers. Conclusion: There is no significant difference between the effectiveness of using Entonox gas with spinal analgesia in the painless delivery of mothers,Therefore, considering the cost of each intervention along with their effect may cause a difference in the two interventions. This means that although both of the interventions have the same clinical and diagnostic effects, the one which costs less, will be more preferable from the point of view of the health system

2Background: birth weight is associated with neonatal mortality and morbidity. In recent studies, fetal growth is related to the risk of developing type two diabetes and cardiovascular disease in later life. The mother’s nutrition and metabolism are major determinants of fetal growth. Some complications of low birth weight are hypocalcemia, hypoglycemia, intrauterine death. Any substance or hormone that can cross the placenta may affect the fetal growth and birth weight, including the maternal lipid during pregnancy. The effect of gestational diabetes mellitus on neonatal birth weight has been documented. Lipids and amino acids usually are not considered in the clinical management of pregnancy because there is less known about the role of these nutrients in the well-being of the pregnancy. This study aimed to determine the relationship between levels of serum lipids in pregnancy and fetal birth weight. Methods: This descriptive cross-sectional study was performed on 170 pregnant women referred to Kerman medical university clinics in Iran from March 2019 to April 2020. After explaining the objectives of the study and gaining informed consent from the individuals, the maternal lipid profile during the first trimester of pregnancy, was measured within the first visit through a sample taken from the maternal blood. Pregnant women were monitored during pregnancy, and the variables were measured (Age, BMI, weight, frequency of pregnancy, weight gain in pregnancy, lipid and blood glucose profiles). The results of the samples were analyzed using SPSS software, version 20 (IBM SPSS, Armonk, NY, USA). Results: The results indicated that the newborn weight increases with an increment in the maternal blood cholesterol (P=0. 001) and triglyceride (P=0. 001) levels. In addition, it was found that the increasing HDL (P=0. 867) and LDL (P=0. 803) levels of the pregnant women’s blood, does not lead to the birth weight increase of the infants. Conclusion: Results of our study generally indicate that triglyceride and cholesterol levels are related to fetal birth weight. Studies with high sample sizes are recommended to investigate all neonatal weight gain variables

2Background: In most patients, the accessory spleen (AS) is small in size. However, in patients who have undergone splenectomy, AS may hypertrophy. This manuscript presents a rare case of spontaneous AS rupture nearly two decades after a prior splenectomy due to trauma. After searching multiple databases, only a few similar cases have been reported to date. In any acute abdominal patient with a history of previous splenectomy who presents with a mass in the anatomical location of the spleen, along with evidence of hematoma and free abdominal fluid on imaging, the possibility of AS rupture should be considered. Case Presentation: In February 2022, a 36-year-old man who had undergone splenectomy due to trauma 16 years ago was referred to the emergency department at Imam Ali Hospital in Bojnord. He complained of sudden onset of severe abdominal pain, preferably in the upper region of the abdomen. The patient denied having any recent issues. Based on the patient's history and examination, at perforated stomach ulcer and pancreatitis were initially suspected. However, except for leukocytosis, no other abnormalities were observed in the laboratory tests. Ultrasound revealed a low-echo mass-like lesion in the anatomical location of the spleen. Another low-echo mass-like lesion, indicating a hematoma with abundant free fluid in the abdomen and pelvis, was also observed near the aforementioned mass. CT scan confirmed these findings. Open surgical and re splenectomy procedures were performed, and the diagnosis of spontaneous AS rupture was made based on clinical examination and imaging findings. Conclusion: In any patient with a history of previous splenectomy who presents to the emergency room with diffuse and acute abdominal pain, even without recent trauma, if a mass-like lesion is observed in the anatomically suspicious location of the spleen in the left subphrenic space, along with other evidence of rupture such as hematoma/laceration and free fluid in the abdominal cavity, accessory spleen rupture should be considered as the main differential diagnosis.

2Background: Jawbone involvement and destructive bone lesions in the mandible and maxilla are reported in 30% of patients with multiple myeloma. In general, plasma cell neoplasia rarely occurs in the maxillofacial area, and an incidence of 2.6-3.3 per 100,000 people is reported for solitary plasmacytoma in jawbones. This study aims to present and evaluate a patient with multiple myeloma and the first symptoms in the maxillofacial area. Case Presentation: The patient was a 52 years old woman complaining of painful swelling in the left area of the face that had enlarged during the last month. She was referred to the maxillofacial disease department of the Dental School of Mashhad, Iran in Feb 2022. The patient has had paresthesia in the left area of the face since 6 months ago. In the extra-oral examination, a 4×10 cm mass was observed in the left mandibular angle extending anteriorly toward the sublingual area. The oral mucosa was normal. According to the clinical profile, malignancy was considered a differential diagnosis. Incisional biopsy of the lesion revealed the proliferation of neoplastic plasma cells. The positive result of immunohistochemistry (IHC) staining for CD138, performed on the specimen to confirm plasmacytoma and detection of small primary lytic lesions in the skull and spine confirmed multiple myeloma. The usual symptoms of multiple myeloma, including low back pain, were not observed. The patient underwent chemotherapy under the supervision of a hematologist. Conclusion: Jawbone involvement is often less mentioned as the first symptom of multiple myeloma; however, compared to the vertebral column or skull lesions, these areas are easily biopsied, providing the possibility of early detection and treatment of multiple myeloma, hence a promising disease prognosis. The concurrence of destructive bone lesions and sensory changes in the maxillofacial area is a red flag. Precise radiographic evaluation and blood tests can help early detect multiple myeloma. Awareness of general dentists about the possibility of blood dyscrasia such as multiple myeloma with such early symptoms in patients can lead to early diagnosis of patients. This report reminds inexperienced clinicians of the special importance of sensory changes in the head and neck.

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