Qudsiya Ansari , Anisha Jain, Kailas Randad, Vinaya Singh, Akash Sarkate,
Volume 18, Issue 5 (9-2024)
Abstract
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare disorder characterized by severe osteoporosis and vision impairment, due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. This autosomal recessive disorder is characterized by fractures, bone fragility, and pseudoglioma with blindness in infancy. Herein, we present a rare case of OPPG syndrome in an infant who, at 80 days of life (DOL), exhibited multiple fractures without any ophthalmic findings at the time of presentation. This is relatively earlier presentation of the symptoms as fractures are more commonly seen after two years of life.
Bizav Rasheed , Beri Tawfeq,
Volume 18, Issue 6 (11-2024)
Abstract
Background: Rheumatoid arthritis (RA) is a long-term autoimmune disorder that primarily affects joints. The disease may also affect other parts of the body, including the skin, eyes, lungs, heart, nerves, and blood. This study aimed to evaluate the effect of methotrexate on blood, liver, and renal parameters in patients with RA.
Methods: A six-month cross-sectional study was carried out on 60 consecutive patients aged 19-70 years diagnosed with RA on methotrexate treatment (10 mg) orally per week. A questionnaire was taken from participants, and laboratory tests were done on renal and liver function and complete blood count (CBC), erythrocyte sedimentation rate (ESR), glutamic oxaloacetic transaminase (SGOT or AST), glutamate pyruvate transaminase (SGPT or ALT), Creatinine, C-reactive protein (CRP), and rheumatoid factor (RF) as a follow-up to drug intake.
Results: At the end of sample collection, participants ranged in age from 19 to 70 years, with a female-to-male ratio of 1.5:1. Significant differences in platelet (PLT) levels were observed only between days 1 and 14 of the treatment (p <0.05). Similarly, SGPT levels showed significant variation between days 1 and 30 of the treatment (p <0.05). Additionally, RF levels exhibited significant differences between days 1 and 14 (p <0.01) and between days 1 and 30 of the treatment (p <0.04).
Conclusion: The recommended medication for all kinds of patients with RA is methotrexate, which has had a notable impact on blood, liver, and kidney parameters. These characteristics can serve as indicators for monitoring the medication’s effectiveness, safety, and patient follow-up.
Shuchismita ., Iffat Jamal , Vijayanand Choudhary ,
Volume 19, Issue 1 (1-2025)
Abstract
Hairy cell leukemia (HCL) is characterized by pancytopenia and is usually associated with massive splenomegaly; however, the same may not be true in clinical settings. Here, we report a case of HCL without the classical clinical feature of splenomegaly. Absence of splenomegaly doesn’t exclude the diagnosis of HCL. A careful study of morphological findings on bone marrow aspirate and biopsy, followed by appropriate ancillary tests, aids in correct diagnosis. A high index of suspicion is essential for diagnosing and appropriately managing such cases. A strong suspicion on morphology in such cases is a prerequisite for reaching a correct diagnosis, even in the absence of usual clinical presentation.
Dr. Parineeta Shelke, Dr. Preeti Doshi, Dr. Amit Nisal, Dr. Abdulrahaman Momin, Dr. Ravindra Nimbargi,
Volume 19, Issue 2 (3-2025)
Abstract
Background and objectives: Hemoglobinopathies is group of genetic disorders affecting structure or production of hemoglobin. Two main categories are thalassemia syndromes and structural hemoglobin variants. Preventing inherited hemoglobinopathies has been recognized as an international health priority. These disorders can now be accurately diagnosed using HPLC. The present study was aimed at studying various hemoglobinopathies using HPLC from Western Maharashtra, India.
Methods: The cross sectional study was conducted in Bharati Vidyapeeth (DTU) Medical College, Pune. During the study period of 3 years, total 1455 specimens of either gender were analyzed for variant analysis, using VARIANTTM II β-thalassemia Short Programme. The HPLC with ion exchange chromatography principle was used. The hematological parameters were estimated in every subject. The incidence of hemoglobinopathies, with its types is presented.
Results: The age of the 1455 subjects included was 26.91 ± 7.06 years, of which majority were females. The overall incidence of hemoglobinopathies found to be 8.78%. The most prevalent condition was β-thalassemia minor, followed by β-thalassemia major, Hb S trait and Hb S disease. There were 2 cases with heterozygous for Hb D Punjab and 1 was heterozygous for Hb E. Mentzer index was positively associated with Hb F and MCH, and negatively associated with hemoglobin, Hb A and RDWC levels.
Conclusion: The incidence of hemoglobinopathies in this region was reported to be 8.78%. The commonest hemoglobinopathies reported was β thalassemia, of which most were heterozygous for β thalassemia trait. The presence of Hb E increased the severity of anemia when present with β-thalassemia
Roohollah Mohammadi Mirzaei, Hamid Malekshahiniya, Halimeh Vahdatpoor,
Volume 19, Issue 2 (3-2025)
Abstract
The aim of this study is to investigate the effect of 6 weeks of intermittent exercise on the serum level of nitric oxide, insulin resistance and some lipid profiles in male diabetic rats. Materials and methods: In this experimental study, 60 anesthetized rats (200±20) were randomly divided into 6 groups of 10:1-control-healthy, 2-sham, 3-periodic, 4-periodic+saline, 5-diabetic and 6- Diabetes + interval training were divided. Diabetes was induced by intraperitoneal injection of nicotinamide-streptozotocin. The subjects trained on the treadmill for 6 weeks, 5 sessions a week. 48 hours after the last training session, slaughter was performed and then glucose, insulin, nitric oxide, LDL, HDL, TG and cholesterol levels were measured. One-way variance test and Tukey's post hoc test were used for data analysis(p<0.05). Results: Induction of diabetes increased glucose and insulin resistance and decreased insulin and nitric oxide in the diabetic group compared to the control group. After 6 weeks of intermittent training in the diabetes group + intermittent training, the amount of glucose and insulin resistance decreased compared to the diabetes group, but the nitric oxide level increased compared to the diabetes group. But it had no effect on insulin levels. Also, 6 weeks of intermittent training had no significant effect on the amount of lipid factors in different groups(p<0.05). Conclusion: According to the results of the present study, it seems that interval training can create a protective effect against vascular diseases in diabetic patients by reducing insulin resistance and increasing nitric oxide, and as a result, improving vascular function.
Saif Karim, Mahdi Zahedi, Nahid Poursharifi, Mehdi Khorami, Mohsen Tatar,
Volume 19, Issue 2 (3-2025)
Abstract
Objective: The purpose of this study was to investigate the impact of smoking on blood homocysteine, folic acid, and vitamin B12 levels in patients with cardiovascular diseases (CVD). Methods: We collected 90 participants with cardiovascular complications who were divided into two groups: Smokers (n=46) and non-smokers (n=44) groups. The serum levels of homocysteine, folic acid, and vitamin B12 were determined by the ELISA. Additionally, the systolic, diastolic blood pressure, and BMI were taken from patients. Results: Our results illustrated that the serum level of folic acid was significantly decreased in smoker patients (22.41±5.95) compared with the non-smokers group (28.05±4.13, p=0.000). In contrast, the serum level of homocysteine (p=0.958) and vitamin B12 (p=0.578) was not altered significantly between both groups. Our data also showed a negative correlation between folic acid and systolic blood pressure. No relationship was observed between folic acid and vitamin B12 and homocysteine in the smoking group. Conclusion: Our study showed that the levels of folic acid significantly decreased in CVD patients with smokers compared with non-smokers. A significant negative relationship was observed between folic acid and systolic blood pressure.
