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Edith Simona Ianosi, Szasz Simona, Roxana Nemes and Gabriela Jimborean

Abstract

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 posterobasal 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.

Open access

Ianosi Edith Simona, Comes Alexandra and Jimborean Gabriela

Abstract

Obesity is a disease with severe health consequences and increased risk of mortality. The most commonly used criteria to assess the presence and the severity of obesity are body mass index, waist circumference, waist-to-height ratio and the presence of the health conditions caused or worsened by obesity. Worldwide obesity has more than doubled in the last 4 decades. Obesity is the second of the leading preventable causes of death worldwide (after smoking). Obesity has a plurifactorial pathogenesis. The central perturbation consists in the imbalance between calories intake and calories consumption (by inappropriate diet and sedentary lifestyle). Identification of all the ethiological factors is important for treatment and prophylaxis. Weight loss benefits are multiple and important: improvement in glicemic control and in plasma lipid levels, blood presure control, obstructiv sleep apneea reduction, improvement in management of daily activities and profesional performances, increase quality of life, reduction in mortality. Overweight or obese patient will complete a diagnostic and a treatment program. Treatment of obesity claims a targeted multidimensional therapy: weight and lifestyle management, diet, sustained physical activity in daily life, exercise, decrease life stressors, smoking cessation, drug therapy, bariatric surgery psichological, familial and social suport. Weight loss program must be carefully planned, adapted to the patient’s abilities and comorbidities and supervised by a nutritionist and a physiotherapist.

Open access

Alexandra Comes, Edith Simona Ianoşi and Gabriela Jimborean

Abstract

Chronic obstructive lung disease (COPD) is a severe progressive disease associated with high morbidity and mortality. Early diagnosis and correct treatment improve the symptoms, quality of life and survival in COPD. Exacerbations of the disease are acute events that cause worsening of COPD symptoms (dyspnea, cough and/or sputum) and may require modification of stable COPD therapy. COPD exacerbations add inflammation, damage the quality of life, deteriorate the lung function, increase mortality and associate high socio-economic costs. Accurate early prediction of exacerbation and mortality risk facilitates patient selection upon risk, in order to provide appropriately targeted early treatment. The risk of having frequent exacerbations is clearly demonstrated by recognized studies in patients with specific criteria: previous exacerbation in the last year, decrease in FEV1s, increase in the score of St. George Questionnaire (life quality decline), high levels of several inflammatory biomarkers, such as neutrophils, C-reactive protein (CRP), fibrinogen, pro-calcitonin, eosinophils, IL-6, IL-8, chemokine ligand 18 (CCL-18/PARC), surfactant protein D (SP-D). Simultaneously elevated levels of CRP, fibrinogen and leukocyte count in COPD patients were associated with an increased risk for exacerbations. At the same time, elevated levels of the three biomarkers are associated with an increased risk of major comorbidities in COPD. Biomarker detection may be an additional tool for assessment and management of COPD comorbidities. Detection of pathologic levels of inflammatory biomarkers improves the ability to predict the risk mortality in COPD alongside with BODE index (BMI, obstruction in lung function, dyspnea scale, 6-minute walk test) and may provide a targeted treatment.