Journal of Clinical Trials and Experimental Investigations

Comparison of HPLC results of patients with hemoglobin D with DNA sequence analysis: Detection of compound heterozygosity HbD/β-Thalassemia traits

2024-10-09T15:03:58+03:00

Objective: In our study, we aimed to compare the results of patients with near-total hemoglobin D variants detected by the HPLC method with DNA sequence analysis.

Materials and methods: In our laboratory, hemoglobin variant analysis was performed with an HPLC analyzer (Adams A1C HA8180T, Arkray, Inc., Kyoto, Japan) from EDTA-tubed whole blood samples of three male patients. PCR-DNA Sanger sequence analysis was then performed on these samples for a definitive diagnosis.

Results: We found that three male patients had hemoglobin D variants close to the total by HPLC method (HbD levels are 97.92%, 93.2%, and 97.6%, and HbA levels are 0% for all patients, respectively). In two patients, we did not detect hemoglobin A2 levels by HPLC, while in one patient, we detected <3.5% HbA2. According to the results of PCR-DNA sequence analysis, we found that all three patients had heterozygous Hemoglobin D, characterized by the p.Glu121Gln (c.364G>C) mutation. In addition, the patients had c.92 +5G>C, IVS2-1G>A (c.315+1G>A), and p.Lys9Valfs*14(c.25_26del) mutations, which were pathologically identified and consistent with heterozygous β-thalassemia carriage. Thus, we found that three patients had compound heterozygous HbD/β-thalassemia.

Conclusion: The presence of hemoglobin D is close to total hemoglobin D in percentage, according to the HPLC result, but does not always indicate homozygous hemoglobin DD. In addition, β-thalassemia carriage may be missed from the laboratory results of those who are carriers of the hemoglobin D variant and have nonincreasing hemoglobin A2 levels. In these patients, it should be clarified whether they are β-thalassemia carriers by genetic methods. In this way, the birth of babies with β-thalassemia major can be prevented.

Cardiometabolic risk estimation in professional firefighters

2024-09-27T19:29:32+03:00

Objective: Cardiometabolic diseases are currently the leading causes of morbidity and mortality worldwide and are highly prevalent. Firefighters, due to the nature of their work, appear to have a high prevalence of these pathologies. Our objective was to determine the prevalence of variables related to cardiometabolic risk in a group of professional firefighters.

Materials and methods: A descriptive, cross-sectional study was performed in 2155 Spanish firefighters between January 2019 and December 2019. Body mass index (BMI) and CUN BAE (Body Adiposity Estimator from the University Clinic of Navarra) were evaluated.

Results: The study evaluated cardiometabolic risk factors among 2,127 firefighters, showing that 29.71% (n=632) were smokers, 27.7% (n=589) were sedentary, and 36.06% (n=767) did not follow a Mediterranean diet. The prevalence of hypertension increased with age: 14.75% (n=96) among those under 40, 19.71% (n=176) in those aged 40-49, and 39.97% (n=233) in those over 50. Total cholesterol ≥ 200 mg/dL was found in 48.47% (n=1,030), with LDL-c ≥ 130 mg/dL in 37.09% (n=789). Metabolic syndrome according to NCEP ATPIII criteria was present in 8.65% (n=184), while atherogenic dyslipidemia was noted in 3.43% (n=73).

Conclusions: Considering that the average age of our sample is not very high, the cardiometabolic risk in our group of firefighters can be classified as elevated.

Level of evidence: Level IIb

Perioperative findings and long-term impact of urinary bladder injuries secondary to cesarean delivery: A retrospective analysis of 67 cases

2024-08-01T13:50:15+03:00

Objective: The urinary bladder injury after cesarean delivery is rare but significant. Our study aimed to identify significant perioperative findings in bladder injuries secondary to cesarean delivery and assess their long-term impact on bladder functions.

Materials and methods: In this retrospective study, we reviewed 67 patients with bladder injuries from cesarean deliveries treated at our hospital between September 2018 and February 2023. The study included only cases involving surgical repair of these injuries related to cesarean delivery. Data were collected on patient demographics, medical and surgical history, injury details, treatment methods, and postoperative outcomes, including bladder function assessments and complications within a year after surgery.

Results: Between September 2018 and February 2023, 123.296 pregnant women were admitted to our hospital for birth; 46.786 (38%) cesarean deliveries occurred, and 67 (0.14%) patients suffered bladder injuries. Diagnosis was made intraoperatively in 58 (86.56%) patients and postoperatively in 9 (13.43%) patients. The mean age of the patients was 33.8±5.08 years and the mean number of cesarean sections the patients had undergone was 3.25±1.23. The mean bladder defect size was 4.46±2.91 cm, and they were most frequently observed in the bladder dome. Lower urinary tract symptoms were observed in 4 (5.97%) patients in the early period (postoperative 1st month) and in 12 (17.91%) patients in the late period (after 1st month), and the most common symptom was dysuria.

Conclusions: Bladder injury during cesarean delivery is a rare but serious condition. Immediate repair is crucial when the injury is visible. Any suspected injury in the postoperative period should prompt diagnostic procedures and subsequent treatment without delay. Regular follow-up appointments are essential for monitoring postoperative complications and bladder functions.

Prevalence of isolated systolic and diastolic hypertension and its relathionship with sociodemographic variables and healthy habits in 193,462 spanish workers

2024-10-01T21:19:44+03:00

Objective: Hypertension (HTN) is one of the leading risk factors for cardiovascular diseases, contributing significantly to the global burden of morbidity and mortality. Among the different types of hypertension, isolated systolic hypertension (ISH) and isolated diastolic hypertension (IDH) are distinguished, both with particular clinical implications. The aim of this study is to assess how certain sociodemographic variables and healthy habits influence the prevalence of ISH and IDH.

Material and methods: A descriptive, cross-sectional study of 193,462 Spanish workers, evaluating the influence of age, gender, social class, educational level, tobacco consumption, physical exercise, and adherence to the Mediterranean diet on the prevalence of ISH and IDH.

Results: The prevalence of ISH increases with age, in men, in individuals of lower social and educational levels, and in those who are sedentary. The prevalence of IDH is higher in men, individuals with lower socioeconomic status, those who are sedentary, and those with low adherence to the Mediterranean diet (p<0.05 for each comparison).

Conclusion: Both ISH and IDH are influenced by male gender, sedentary lifestyle, and low socioeconomic status. Advanced age is a factor in ISH, while low adherence to the Mediterranean diet influences IDH.

Artificial intelligence and robotic surgery in colorectal cancer surgery

2024-10-28T22:47:36+03:00

Lichenoid drug eruption due to pirfenidone in a patient with idiopathic pulmonary fibrosis

2024-09-22T23:18:16+03:00

Idiopathic pulmonary fibrosis (IPF) is a chronic progressive disease of unknown cause characterized by relentless scarring in the lung parenchyma, leading to decreased quality of life and early mortality. Pirfenidone and nintedanib have been approved for the treatment of IPF based on their ability to slow functional decline and disease progression. Lichenoid drug eruption (LDE) refers to a drug-induced eruption resembling lichen planus, typically presenting as purple, symmetrical, eczematous plaques. While skin reactions due to pirfenidone have been reported in numerous cases, pirfenidone-induced LDE is rarely observed. In this case, we present a rare instance of pirfenidone-induced LDE.