Daniela Flores Hernandez, Pérez-Millán Karla Janeth, Monroy-Meneses Carlos Eduardo, Ruiz-Gonzalez Samantha Lizeth, Carmona-Tapia Daniela Alejandra
SAR J Med Case Rep | Pages : 48-52
DOI : https://doi.org/10.36346/sarjmcr.2025.v06i04.004
Pulmonary aspergillosis is an opportunistic infection caused by species of the genus Aspergillus, encompassing a broad clinical spectrum, from saprophytic colonization to potentially fatal invasive disease. Among its chronic forms, aspergilloma represents an intracavitary fungal mass, usually associated with pre-existing pulmonary cavities due to tuberculosis, emphysema, or other structural lung diseases. Although classically considered non-invasive, it may cause severe complications in specific clinical settings. Pulmonary Aspergillus infection can present atypically, especially in immunocompromised patients. Thrombotic events, including pulmonary thromboembolism (PTE), have been described as rare but possible complications in these patients.
SAR J Med Case Rep | Pages : 35-47
DOI : https://doi.org/10.36346/sarjmcr.2025.v06i04.003
This review paper, conducted between January and March 2025 and based on a comprehensive analysis of previous studies, investigates the function of members of the PAX gene family in human illnesses. PAX genes serve as critical regulators in the development of various tissues and organs, and mutations in these genes have been linked to a broad spectrum of genetic disorders and cancers. The research focused on the functions of individual PAX genes and their associations with disease phenotypes. For instance, mutations in PAX9 are linked to tooth agenesis, with the severity of dental anomalies depending on the mutation’s impact on DNA-binding capacity. Mutations in PAX2 have been associated with renal and ocular malformations, notably papillorenal syndrome, characterized by renal hypoplasia and optic nerve defects. Additionally, PAX4 and PAX6 are essential for the differentiation of pancreatic endocrine cells, and their mutations are implicated in various forms of diabetes. Moreover, aberrant expression of PAX genes is observed in several cancer types. PAX3 and PAX7 expression correlates with melanoma and sarcoma progression, while PAX2 and PAX8 are frequently expressed in Wilms tumor, a pediatric kidney cancer. These genes can influence tumor initiation, progression, or resistance mechanisms, though their exact oncogenic roles remain to be fully defined. The findings highlight the necessity for detailed characterization of PAX gene isoforms, mutation effects, and tissue-specific functions. Future investigations should also address the roles of PAX genes in adult tissue regeneration and further elucidate their contributions to developmental disorders and cancer biology.
Monroy-Meneses Carlos Eduardo, Pérez-Millán Karla Janeth, Flores-Hernandez Daniela, Ruiz-Gonzalez Samantha Lizeth, Carmona-Tapia Daniela Alejandra
SAR J Med Case Rep | Pages : 31-34
DOI : https://doi.org/10.36346/sarjmcr.2025.v06i04.002
Opportunistic infections such as Pneumocystis jirovecii pneumonia (PJP) and thromboembolic complications are frequent and well-known manifestations in patients with advanced human immunodeficiency virus (HIV) infection. Their simultaneous presentation as the initial HIV diagnosis in a previously healthy patient is rare and represents a diagnostic and therapeutic challenge due to its potentially fatal nature.
Mencías-Becerra Rafaela Estefanía, Garduño-Angeles Leonardo, Acosta-Gutiérrez David, Vargas-Torrescano Luis Homero
SAR J Med Case Rep | Pages : 27-30
DOI : https://doi.org/10.36346/sarjmcr.2025.v06i04.001
Pheochromocytoma is a rare neuroendocrine tumor that arises from chromaffin cells of the adrenal medulla and secretes excess catecholamines. Clinically, it presents with various symptoms, with a hallmark of treatment-resistant hypertension, often accompanied by paroxysmal episodes of headache, sweating, and palpitations. Although its overall incidence is low, pheochromocytoma should be considered in the differential diagnosis of young patients with refractory hypertension despite the use of multiple antihypertensive agents, particularly when secondary hypertension is suspected. We present the case of a patient who developed a hypertensive crisis and hemodynamic angina, ultimately diagnosed with malignant pheochromocytoma with hepatic and pulmonary metastases.
Chinedu-Madu Jane U, Onyeka Chibuzor M, Aloy-Amadi Oluchi C
SAR J Med Case Rep | Pages : 22-26
DOI : https://doi.org/10.36346/sarjmcr.2025.v06i03.001
Background: Liver cirrhosis is a chronic liver disease characterized by fibrosis and inflammation, leading to altered liver function and systemic changes. Several haematological and biochemical abnormalities have been reported in patients with liver cirrhosis. Objective: This study aimed to evaluate the levels of red cell indices and aspartate aminotransferase (AST) in patients diagnosed with liver cirrhosis at Specialist Hospital Umuguma, Owerri. Methods: A total of 60 subjects (30 patients with liver cirrhosis and 30 healthy controls) were recruited. After obtaining informed consent, five millilitres of venous blood samples were collected. Two milliliters were dispensed into EDTA containers for hematological analysis, and three milliliters into plain containers for biochemical assays. AST levels were determined from serum, while red cell indices were evaluated from whole blood. Data were analyzed using SPSS version 27 with t-tests, correlations, and significance set at p<0.05 Results: The mean values of AST (27.10±15.20) IU/L and RDW (17.00±2.61) % were significantly higher in patients with chronic liver cirrhosis when compared to controls (4.63±1.94) IU/L and (12.27±1.23) % (t= 8.03, p= 0.000, t=8.98, p=0.000). That of PCV (24.03±4.72)%, Hb (8.09±1.50)g/dl, RBC (x106/ul)mg/dl, MCV (75.17±4.65)fl, MCH (26.13±3.32) pg and MCHC (33.40±2.37)% were significantly lower in patients with chronic liver cirrhosis when compared to controls (37.03±4.07)%, (12.99±1.36)g/dl, (4.16±0.39)mg/dl, (89.17±7.34)fl, (31.20±1.75)pg and (34.83±1.82)%. (t=11.43, p=0.000; t=13.21, p=0.000; t=6.59, p=0.000; t=8.82, p=0.000; t=7.39, p=0.000; t=2.63, p=0.011). There was no significant difference in the mean values of AST (26.79±15.93)IU/L, MCV (75.32±4.99)fl, MCH (26.05±3.63)pg, MCHC (33.37±2.26)% in male patients with chronic liver cirrhosis when compared to females (27.64±14.58)IU/L, (74.91±4.23)fl, (26.27±2.87)pg and (33.45±2.66)% (t=0.15, p=0.886; t=0.23, p=0.822; t=0.17, p=0.865; t=0.09, p=0.926).The mean values of PCV (25.95±3.94)%, Hb (8.72±1.22)g/dl and RBC (x106/ul) mg/dl were significantly raised in male patients with chronic liver cirrhosis when compared to females (20.73±4.19)%, (7.02±1.36)g/dl and (2.75±0.54)mg/dl (t=3.42, p=0.002; t=3.53, p=0.003; t=3.29, p=0.003).The mean values of RDW (15.89±2.02) % was significantly lower in male patients with chronic liver cirrhosis when compared to females (18.91±2.47)% (t=3.63, p=0.001). There was no significant difference in the mean values of AST (25.94±11.89)IU/L, PCV (23.06±3.99)%, HB (7.84±1.36)g/dl, RBC (x106/ul)mg/dl, MCV (74.50±4.88)fl, MCH (26.33±3.86)pg, MCHC (33.50±2.26)% and (17.28±2.74)% in patients with chronic liver cirrhosis of ages (40-60)yrs when compared to patients with chronic liver cirrhosis of ages (>60)yrs(31.30±20.70) IU/L, (24.80±5.71)%, (8.25±1.73)g/dl, (3.23±0.80)mg/dl, (75.90±4.70)fl, (25.90±2.64)pg, (33.30±2.87)% and (16.60±2.46)% (t=0.87, p=0.390; t=0.95, p=0.351; t=0.69, p=0.493; t=0.33, p=0.743; t=0.74, p=0.468; t=0.32, p=0.755; t=0.20, p=0.841). There was a non-significant negative correlation of AST with PCV (r=-0.11, p=0.554), Hb (r=-0.78, p=0.687), RBC (r=-0.10, p=0.588), MCV (r=-0.08 p=0.672) and MCHC (r=-0.28, p=0.127) in Patients with Chronic Liver Cirrhosis. Correlation of AST with MCH (r=0.25, p=0.174) and RDW (r=0.07, p=0.729) in Patients with Chronic Liver Cirrhosis showed a non – significant association. Conclusion: Elevated AST and RDW are significantly associated with liver cirrhosis. These parameters, alongside red cell indices, may aid in the clinical assessment and diagnosis of patients with suspected liver cirrhosis.
Iheanacho Malachy C, Ononye Michael E, Aloy-Amadi Oluchi C, Ogunnaya Frances U
SAR J Med Case Rep | Pages : 18-21
DOI : https://doi.org/10.36346/sarjmcr.2025.v06i02.001
Rheumatoid Arthritis (RA) is a chronic autoimmune disease that primarily affects the joints. In RA, the body’s immune system mistakenly attacks its own tissues, especially the synovial membrane causing inflammation, pain, swelling, and stiffness. This study was aimed at determining changes in some haematological markers and renal profile in rheumatoid arthritis patients attending Imo State Specialist Hospital Umuguma, Owerri, Imo State. A cross-sectional study was carried out from the month of June to September, 2023, and all eligible subjects who gave a written informed consent and completed the questionnaire enrolled in the study. The study population consisted of 50 rheumatoid arthritis and an equivalent number of age-matched healthy subjects (50), who served as the controls. The procedure was carried out at the Specialist Hospital, Umuguma, Owerri. Ten millilitres of venous blood sample was collected at the ante-cubital vein aseptically, 5ml was dispensed into ethylenediaminetetraacetic acid (EDTA) containers for the estimation of haematological parameters, while the remaining 5mls was dispensed into plain containers for the determination of biochemical parameters. The samples in the containers were properly labeled with the subject’s name, sample number and date of collection. The blood dispensed into the EDTA containers was stored in a refrigerator at 40C while the serum was stored in a freezer at -200C prior to use. Haematological parameters and renal profile test were determined using standard laboratory procedure. The results of the tests were analyzed using SPSS version 21. The mean values of haemoglobin (9.84±1.32) g/dl and PCV (30.97±2.43) % were significantly lower in rheumatoid arthritis patients when compared to controls (12.48±1.57) g /dl and (33.20±4.57) %, while platelets (33844.00±102083) cells/ul were significantly higher in rheumatoid arthritis patients when compared to controls (234180.00±132329.01). There was no significant difference in the mean value of creatinine (1.35±1.98) mg/dl, in rheumatoid arthritis patients when compared to controls (1.34±1.86) mg/dl. The mean values of urea (37.56±20.88) mg/dl, sodium (151.02±44.78) mmol/l and potassium (4.94±2.08) mmol/l were significantly raised in rheumatoid arthritis when compared to controls (26.27±15.16) mg/dl, (132.27±5.98) mmol/l and (4.76±1.19) mmol/l (p=0.012, p=0.001, p=0.026, p=0.010. There was a non-significant positive correlation of PCV with urea, creatinine, sodium and potassium in rheumatoid arthritis patients (r=0.04, p=0.767; r=0.10, p=0.474; r=0.01, p=0.975 and r=0.03, p=0.834). Early detection and management of anemia, thrombocytosis, and renal dysfunction are essential for improving patient outcomes and quality of life.
Mehdi Saffieddine, Hamza Ait Mahanna, Reda Safwat, Adil Kbiro, Amine Moataz, Mohamed Dakir, Adil Debbagh, Rachid Aboutaieb
SAR J Med Case Rep | Pages : 15-17
DOI : https://doi.org/10.36346/sarjmcr.2025.v06i01.004
Penile cancer is a rare disease, but its global incidence is on the rise. Human papillomavirus (HPV) is the primary risk factor, making HPV status assessment an essential part of pathological evaluation. The primary goal of treating the tumor is complete eradication while preserving as much of the organ as possible without compromising oncological outcomes. Early detection and treatment of lymph node (LN) metastasis are crucial for survival. In our case, the patient had a high-risk advanced penile cancer (PSCC) which had requirring a multimodal treatment approach, combining chemotherapy, radiotherapy with consolidation surgical treatment.
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