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.
Parineeta Shelke , Preeti Doshi , Amit Nisal , Abdulrahaman Momin , Ravindra Nimbargi ,
Volume 19, Issue 2 (3-2025)
Abstract
Background: Hemoglobinopathies are a group of inherited disorders characterized by abnormal hemoglobin structure or synthesis, primarily classified into thalassemia syndromes and structural hemoglobin variants. Recognized as a global health priority, these disorders necessitate accurate diagnostic approaches. High-performance liquid chromatography (HPLC) has emerged as a reliable method for their detection. This study aimed to analyze the spectrum of hemoglobinopathies using HPLC in a population from Western Maharashtra, India.
Methods: A cross-sectional study was conducted at Bharati Vidyapeeth (DTU) Medical College, Pune, over three years. A total of 1,455 specimens from individuals of both genders were analyzed using the VARIANT™ II β-Thalassemia Short Program based on ion-exchange chromatography. Hematological parameters were assessed for all subjects, and the prevalence of hemoglobinopathies, along with their subtypes, was documented.
Results: The mean age of the study population was 26.91 ± 7.06 years, with a female predominance. The overall incidence of hemoglobinopathies was 8.78%, with β-thalassemia minor being the most prevalent, followed by β-thalassemia major, Hb S trait, and Hb S disease. Rare variants included two cases of Hb D Punjab heterozygosity and one case of Hb E heterozygosity. The Mentzer index exhibited a positive correlation with Hb F and mean corpuscular hemoglobin (MCH) and a negative correlation with hemoglobin levels, Hb A, and red cell distribution width (RDW-C).
Conclusion: The study revealed an 8.78% prevalence of hemoglobinopathies in the region, with β-thalassemia trait (Heterozygous) being the most common. Notably, co-inheritance of Hb E with β-thalassemia exacerbated anemia severity. These findings underscore the importance of HPLC-based screening for early diagnosis and management of hemoglobinopathies in high-risk populations.
Roohollah Mohammadi Mirzaei, Hamid Malekshahi , Halimeh Vahdatpoor ,
Volume 19, Issue 2 (3-2025)
Abstract
Background: Diabetes is a metabolic and vascular disorder characterized by endothelial dysfunction. Physical activity, particularly intermittent exercise, may offer therapeutic benefits. This study examined the effects of six weeks of intermittent exercise on serum nitric oxide (NO), insulin resistance, and lipid profiles in male diabetic rats.
Methods: Sixty Wistar rats (8 weeks old, 200 ± 20 g) were divided into six groups (n=10): healthy control, sham, interval training, interval training + saline, diabetic control, and diabetic + interval training. Diabetes was induced via nicotinamide-streptozotocin injection. The exercise groups underwent treadmill training (5 sessions/week for 6 weeks). Post-intervention, glucose, insulin, NO, LDL, HDL, triglycerides, and cholesterol were measured.
Results: Diabetes induction significantly increased glucose and insulin resistance while reducing insulin and NO levels compared to controls (P < 0.001). After six weeks, the diabetic + exercise group showed significant reductions in glucose and insulin resistance (P < 0.001) and increased NO levels (P < 0.001) versus the diabetic group. Insulin levels did not differ significantly among the groups (P = 0.11). Lipid profiles (LDL, HDL, triglycerides, cholesterol) remained unchanged (P > 0.05).
Conclusion: Six weeks of intermittent exercise improved glucose metabolism and vascular function in the diabetic rats by reducing insulin resistance and increasing NO levels, suggesting its potential as a non-pharmacological therapy for diabetes-related endothelial dysfunction.
Saif Karim, Mahdi Zahedi , Zeinab Mohammadi , Nahid Poursharifi , Mehdi Khorami , Mohsen Tatar ,
Volume 19, Issue 2 (3-2025)
Abstract
Background: Smoking is recognized as a significant risk factor for cardiovascular diseases (CVD), yet its influence on blood levels of homocysteine, folic acid, and vitamin B12 is not well understood. This study aimed to explore how smoking affects these biochemical markers in patients with CVD.
Methods: The study included 88 participants diagnosed with CVD, who were categorized into smokers (n=44) and non-smokers (n=44). Serum concentrations of homocysteine, folic acid, and vitamin B12 were assessed using ELISA. Additionally, blood pressure (both systolic and diastolic) and body mass index (BMI) were recorded.
Results: Smokers showed significantly lower levels of folic acid (22.41 ± 5.95 ng/mL) compared to non-smokers (28.05 ± 4.13 ng/mL, p = 0.000). No significant differences were observed in homocysteine (p = 0.958) or vitamin B12 (p = 0.578) levels between the two groups. A negative correlation was found between folic acid and systolic blood pressure in smokers, while no significant associations were noted among folic acid, vitamin B12, and homocysteine.
Conclusion: In patients with CVD, smoking is linked to significantly lower folic acid levels, which may lead to increased systolic blood pressure. These results underscore the need to monitor folic acid levels in smokers who are at risk for cardiovascular issues.
Atere Adedeji David , Ehuine Elizabeth Efe , Kosamat Yekeen Adebisi , Ige Ilesanmi Paul ,
Volume 19, Issue 4 (7-2025)
Abstract
Background: Menopause, characterized by the cessation of menstrual periods, often leads to bone diseases due to hormonal changes, particularly affecting calcium metabolism. This study aimed to evaluate bone-associated biomarkers and their correlation with parathyroid hormone (PTH) levels in postmenopausal women, shedding light on potential osteoporosis risks.
Methods: Sixty postmenopausal (PMP) women, along with 20 premenopausal (PRM) and 20 reproductive-age (RWA) women as controls, were included in this cross-sectional study. Blood samples were analyzed for PTH, vitamin D, uric acid, calcium, phosphorus, alkaline phosphatase (ALP), and estradiol levels.
Results: Statistical analysis revealed significantly higher levels of ALP and phosphorus, and lower levels of calcium, PTH, vitamin D, uric acid, and estradiol in PMP and PRM groups compared to RWA (p <0.05). Moreover, PTH had a significant negative correlation with ALP, and phosphorus; however, it had a positive correlation with calcium, vitamin D, and estradiol in PMP women. ALP demonstrated a superior area under the receiver operating characteristic curve (AUC-ROC) compared to other bone-associated markers.
Conclusion: These findings highlight the reduced bone-associated biomarker levels in postmenopausal women, potentially increasing the risk of bone loss and osteoporosis.
Karthiga Vj , Arthy Raman , Subhashini Ramamoorthi , Debasis Gochhait , Sreerekha Jinkala ,
Volume 19, Issue 4 (7-2025)
Abstract
Background: Conventional Tissue Processing (CTP) is the gold standard method for tissue processing; however, the method is relatively time-consuming. Microwave Tissue Processing (MTP) reduces the turnaround time and gives comparable histomorphology to CTP. The objective was to compare the Laboratory-grade Microwave Processing (LMP) and Domestic Microwave tissue Processing (DMP) with CTP in terms of histomorphology and immunohistochemistry (IHC) staining.
Methods: Three tissue bits from 89 formalin-fixed resection specimens received in the histopathology laboratory were processed by CTP, LMP, and DMP processing methods. The specimens were fixed in 10% neutral buffered formalin for 24 hours. The sections were stained with Hematoxylin and Eosin (H and E) stain. In subgroup analysis, IHC was done on 17 relevant cases using two antibodies, Ki67 (Nuclear) and Pancytokeratin (Membranous and cytoplasmic). Parameters such as the clarity of section, cytoplasmic details, nuclear details, color intensity, and interface of epithelium and connective tissue were studied. Parameters like color intensity, localization of antigen, background staining, and crispness of staining were studied on IHC. The results were analyzed using Kappa statistics.
Results: There was a fair to moderate agreement between CTP and LMP. There was a slight to fair agreement between CTP to DMP and LMP to DMP.
Conclusion: Microwave tissue processing reduced the turnaround time. The overall quality of LMP tissue was better than DMP and was equally good as that of CTP.
Seyed Sadegh Baniaghil , Fardin Balochi , Ereste Kazzak ,
Volume 19, Issue 4 (7-2025)
Abstract
Background: One of the major complications in thalassemia patients is alloimmunization, which occurs when the patient produces antibodies against transfused Red Blood Cells (RBCs). In the present study, the frequency of alloantibodies was investigated in patients with thalassemia major.
Methods: This cross-sectional retrospective study was performed on 99 multi-transfused patients with thalassemia major. An antibody screening test was carried out using a three-cell panel. Positive patients were followed up for antibody identification using an 11-cell panel. The information was finally analyzed using SPSS software version 16.0.
Results: Out of ninety-nine cases, 53 were female (53.53 %) and 46 were male (46.46 %). The patient’s mean age was 29.22±10.46 years with an age range of 2 to 61 years. Only 5.05% (n=5) had developed alloantibodies. The most common alloantibodies were anti-D, anti-E, anti-c, and anti-K. No significant correlation was seen between the presence of alloantibody and age, sex, blood type, and spleen condition.
Conclusion: Antibody production against RBC antigens is a common problem in multi-transfused thalassemia patients. Compatibility between antigens of the Kell and Rh blood group systems in donors and recipients can be one of the useful ways to prevent alloimmunization of blood recipients and the formation of unexpected antibodies against the donor’s red blood cells.
goums.ac.ir
yahoo.com