Methylentetrahydrofolate reductase (MTHFR) is a key enzymatic component of the folate cycle, converting 5,10-methylentetrahydrofolate into 5-methylentetrahydrofolate. Severe MTHFR deficiency is a rare recessive disease leading to major hyperhomocysteinemia, homocystinuria, and progressive neurological distress within the two first decades of life.
We present the case of a young, 21 years old female patient who was admitted and treated in Clinic of Pneumology Tirgu Mures for a postero-basal left pneumonia without favourable radiologic evolution under antibiotic and symptomatic treatment. Thoracotomy was recommended in order to elucidate the diagnosis. The histopatological examination revealed the zone of pulmonary infarction. After 12 weeks from surgical intervention, the patient was admitted in Department of Neurology for stroke attack. The complex laboratory investigations reveal deficiency of methylentrahydrofolate reductase (MTHFR) caused by a genetic mutation.
Category Archives: Volume 62
Cytomegalovirus Infection and Pre-Eclampsia
Introduction: Pre-eclampsia is a pregnancy-specific disease characterized by hypertension after 20 weeks of gestation and proteinuria. It is a major cause of maternal and perinatal morbidity and mortality. The pathogenesis of pre-eclampsia is not completely understood. In our study we investigated if there is a potential link between cytomegalovirus infection and pre-eclampsia and if cytomegalovirus infection is the triggering factor of pre-eclampsia.
Material and methods: This study was carried out in a secondary care hospital between January 2014 and July 2015. We included two groups of pregnant women: 66 with pre-eclampsia and 62 without pre-eclampsia. Enzyme linked immunosorbent assay (ELISA) technique was performed to detect cytomegalovirus Immunoglobulin G levels in maternal serum.
Results: The p-value between median values of positive cytomegalovirus IgG in pre-eclamptic women and in controls was not significant (p:0.867). Odds ratio for cytomegalovirus IgG in pre-eclamptic group (OR:0.967; 95%CI:0.535-1.748) do not differ greatly from the value recorded in the control group (OR:1.036; 95%CI:0.571-1.880). The risk for preterm birth in pre-eclamptic women with cytomegalovirus IgG positive values (OR:1.009; 95%CI:0.329-3.090) was greater than those which had term delivery (OR:0.994; 95%CI:0.472-2.095) but the two values are not very high. We found a positive correlation coefficient (0.217) at a “p” value of 0.08 between white blood cells, but a negative correlation coefficient between the percentage of neutrophils and cytomegalovirus infection.
Conclusion: Cytomegalovirus infection may be associated with pre-eclampsia but it is unlikely to be the triggering factor of pre-eclampsia.
A Multiparameter Model for the Correlation Between CT Hounsfield Unit and Blood Components
Objective: To search for a dependency between blood Hounsfield Units values as measured by Computed Tomography and blood components with regards to hemoglobin oxygenated status, demographic data and acquisition parameters.
Methods: A retrospective study included a convenience sample of 144 SCJU patients who underwent routine thoracic CT examinations (Siemens Somatom AS 64 or 128 MDCT) in 2014 and had laboratory examinations done in nearby time. Variables included age, sex, mA, mV, aortic HU values, PA HU values, RBC, HTC, HGB, PLT, WBC blood sugar, PT and INR. Statistical analysis was performed using R version 3.1.1 and MedCalc 12.5 with a statistical significance factor of 0.05.
Results: The examined patients had an average age of 56.25, with a predominance of males (M:F=1.62). While there was a minor difference between HU values in Males vs Females (1.01 HU) it was proven as statistically significant (p=0.0051). No statistical significant difference between oxygenated/non-oxygenated blood (p=0.9636). Regression analysis found positive correlation between HU values and RGB, HGB and HCT with a significance level below 0.0001, the strongest being for the HGB level.
Conclusions: While HU values seem to carry multifactorial sources and the red blood cells being the most important an importance should be given to the fibrinoid plasma components which appear to bear negative impact.
The Importance of Home Versus 24-Hour Ambulatory Blood Pressure Monitoring and Assessment of Blood Pressure Variability in Hypertension
Background: A number of studies reveal that home blood pressure variability is associated with cardiovascular risk factors. However, we do not have a consensus regarding the variability index and the frequency of measurements.
Objective: The aim of the study was to assess home blood pressure variability for a period of 7 consecutive days and 24-hour ambulatory blood pressure variability using the average real variability index and to test whether home blood pressure variability represents a suitable parameter for long-term monitoring of the hypertensive patients.
Material and methods: A number of 31 hypertensive patients were included in the study, 8 male, 23 female, mean age 60.19±7.35 years. At the inclusion ambulatory blood pressure monitoring was performed, home blood pressure monitoring was carried out for 7 consecutive days with 2 measurements daily. We compared ambulatory blood pressure values, variability using paired t-test. We were looking for correlations between HBP values and cardiovascular risk factors.
Results: Ambulatory versus home blood pressure derived mean blood pressure was 131.38±15.2 versus 131.93±8.25, p=0.81. Ambulatory derived variability was 10.65±2.05 versus home variability 10.56±4.83, p=0.91. Home versus ambulatory pulse pressure was 51.8± 9.06 mmHg vs. 54.9±11.9 mmHg, p=0.046. We found positive correlation between HBPV and home BP values, p=0.027, r2=0.1577, (CI: 0.04967 to 0.6588). Home, as well as ambulatory derived variability were positively correlated to age p=0.043, r2=0.1377 (CI: 0.01234 to 0.6451) versus p<0.0001, CI: 0.3870 to 0.8220, r2=0.4302.
Conclusion: Assessment of home blood pressure monitoring and variability could represent a well-tolerated alternative for long-term follow-up of hypertension management.
Kaposi Sarcoma in HIV Infected Patients
Objective: The aim of the study was to describe clinical and laboratory characteristics in HIV-infected patients with Kaposi sarcoma (KS).
Methods: We retrospectively studied data on HIV-infected patients hospitalized in one tertiary care hospital in Bucharest, Romania, in whom Kaposi Sarcoma was diagnosed, between January 2008 and November 2013.
Results: We identified 27 HIV-infected patients diagnosed with KS within 6 years. They had a median age of 42 years old and a median CD4 cell count of 101 cells per mm3 at the time of KS diagnosis. All patients received antiretroviral therapy (ART), with 18 patients (66%) already on ART at the time of KS diagnosis. Most patients (59%) were classified as ACTG poor-risk and 56% as Mitsuyasu stage I. The overall prognosis was poor, with 41% mortality, in a median time span of 6 months, significantly correlated with gastrointestinal involvement (p=0.019), poor-risk KS in ACTG classification (p<0.001) and stage IV Mitsuyasu (p=0.006).
Conclusion: KS remains an important cause of morbidity and mortality in patients with HIV infection, especially in late presenters.
Comparative Study on the Effectiveness of Early or Delayed Weight-Bearing After Anterior Cruciate Ligament Reconstruction
Objectives. The aim of this study is to evaluate the efficacy of immediate weight-bearing versus two weeks delayed weight-bearing following anterior cruciate reconstruction.
Methods. We conducted a prospective observational study on the efficiency of immediate or delayed weight-bearing following anterior cruciate reconstruction. 30 patients undergoing anterior cruciate ligament reconstruction were included in the study. The patients in the first group were allowed the maximum endurance level of weight-bearing on the operated leg from the first postoperative day, resuming normal walking as soon as possible. Patients in group II were barely allowed the loading of the affected limb after 2 weeks postoperatively. Patient assessment was performed preoperatively, immediately after the procedure and postoperatively at 6 weeks, 3 and 6 months.
Results. The average pre- and postoperative values of the arthometric assessment show a statistically significant improvement of joint stability in both groups of patients. There were no significant differences in the development of joint mobility averages between the two groups. Following the evolution of functional test average values, there is a gradual function improvement in both groups of patients. The assessment results at 6 weeks and three months postoperatively shows that patients in the first group are significantly better in comparison with the results of patients in group II. The final evaluation showed no significant differences between the two groups of patients.
Conclusions. The final assessment revealed no statistically significant difference in reported or objectively measured function. We believe that the weight-bearing exercises and the non–weight-bearing exercises are equally effective and safe in the post-ligamentoplasty recovery.
Surgical Strategy in Bouveret’s Syndrome. A Case Report
Bouveret’s syndrome is a high mechanical obstruction due to impaction of a gallstone into the duodenum, through a cholecystoduodenal fistula. It belongs to a larger group of gallstone ileus, a disease which occurs after developing a fistula between the gallbladder and the gastrointestinal tract. This is a rare complication of gallstones but because it appears in elderly people, it has a high morbidity and mortality. Patients have various symptoms and the treatment is individualized. We present here a case of a 67 years old patient, admitted in emergency, presenting symptoms of high bowel obstruction, with onset 5 days before admission. Abdominal ultrasound reveals a 5 cm stone that seems to be in the gallbladder, gastric stasis and at gastroscopy appears a foreign body impacted in the duodenum. After a short preparation the patient underwent surgery. We found a dilated stomach and a large cholecystoduodenal fistula with an impacted gallstone in the duodenum. We performed one stage surgery: cholecystectomy, extraction of the stone and suturing of the fistula. We reestablished the continuity of the intestinal tract. We performed also an ileostomy for feeding the patient and protecting the anastomoses. The postoperative evolution was favorable.
We consider that one stage surgical treatment in gallstone ileus is an option, if the patient is in good condition and we have an adequate postoperative intensive care management.
Body Mass Index and the Relationship with Chronic Kidney Disease in a Tertiary Care Hospital in Romania
Obesity and chronic kidney disease are epidemic size. Chronic kidney disease (CKD) appears to be more common in obese, although interrelation is not supported by all authors. Aim: The aim of the study was to investigate the effects of overweight and obesity on glomerular filtration rate (GFR) and the relationship between body mass index (BMI) and other risk factors for CKD.
Methods: This is a cross-sectional study on 627 patients admitted in a Nephrology Department between January 2007 – December 2011. Patients were divided according to eGFR in a CKD group and a non-CKD group. Patients were divided based on BMI in: normal (<25 kg/m2), overweight (≥ 25 kg/m2 and ≤30 kg/m2) and obese (>30 kg/m2). Demographical, clinical and laboratory data (serum creatinine, lipid parameters, etc) were used for the statistical analysis. The relationship between BMI (as a marker of obesity and overweight), glomerular filtration rate and other possible risk factors for chronic kidney disease was studied.
Results: 43.70% patients were obese and 33.17% overweight. CKD prevalence was 58.69%. Logistic regression analysis showed that systolic blood pressure was the main determinant of CKD in our patients.
Conclusion: Lack of association between BMI and CKD was demonstrated in our study.
Association Between Sleep Disorder and Increased Body Mass Index in Adult Patients
Introduction and objectives. Obesity is a public health issue, with increasing prevalence and incidence all over the world. Diet and exercise applied in obesity treatment are not always as effective as expected, as there are many other determining factors which can lead to obesity. One of these modifiable factors seem to be sleep disorder. The objective of our study was to test the positive association between the presence of sleep disorder and increased body mass index (BMI).
Material and method. 84 patients were screened in a descriptive cross-sectional study. Each patient completed the adjusted 7 items University of Toronto Sleep Assessment Questionnaire (SAQ©). Each affirmative answer was accounted 1 point. The total score was calculated. Mild sleep disorder was considered at 4-5 points, severe sleep disorder at 6 – 7 points. Body mass index (BMI) was calculated for each patient by the formula weight (Kg)/squared height (m2). We considered increased BMI values greater than 25 kg/m2. The association between the sleep disorder and increased BMI was statistically tested.
Results. We interviewed 84 patients, 32 (38%) men (average age 54 +/- 6.63) and 52 (62%) women (average age 50 +/- 5.26). Mild sleep disorder was present in 36 patients, and severe sleep disorder in 25 patients. We noticed association between sleep disorder and increased BMI (p=0.0064, RR=2.925, 95% CI 1.16-7.36). We observed the risk for increased BMI dependent on the sleep disorder severity.
Conclusions. Sleep disorder is a potentially modifiable risk factor which can be included in obesity therapeutic approach and management. Early diagnosis and treatment of sleep disorder is important in obesity prevention.
Prevalence of Depression, Anxiety and Cognitive Impairment in Patients with Type 2 Diabetes from the Central Part of Romania
Objective: The aim of this study was to assess the prevalence of depression, anxiety and cognitive impairment in patients with type 2 diabetes (T2D).
Material and methods: We conducted a cross-sectional study in patients with T2D. Depression and anxiety were assessed by questionnaires (PHQ-9, CES-D and GAD-7 respectively), cognitive function by the MoCA test. Additionally, 503 patients’ clinic charts were separately analyzed in order to compare the data recorded in the charts with that resulted from the active assessment.
Results: In the screening study 216 subjects with T2D were included (62.2 ± 7.8 years old). 34.3% of them had depression and 7.4% presented major depression. 44.9% of patients with T2D had anxiety (9.2% major anxiety) and this was highly correlated with depression (OR: 21.139, 95%CI: 9.767-45.751; p<0.0001). Women had significantly higher prevalence of depression and anxiety compared to men (42.1% vs. 21.7%; p: 0.0021 and 51.1% vs. 34.9%; p: 0.02), but severe depression was similar between genders (9.0% vs. 4.8%; p: 0.29). Significantly more patients had depression and anxiety than recorded in their charts (34.3% vs. 13.9% and 44.9% vs. 9.3%,respectively; p<0.0001 for both). 69.0% of T2D patients had mild, 6.0% had moderate and none had severe cognitive dysfunction, respectively. Significantly more patients with depression and anxiety had mild and moderate cognitive impairment (p: 0.03 and p: 0.04, respectively).
Conclusions: Patients with T2D had a high prevalence of comorbid depression, anxiety and cognitive impairment. Depression and anxiety were significantly more frequent in women. These conditions were under-evaluated and/or under-reported.