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McArdle’s Disease, or Glycogen Storage Disease Type V, is the result of a deficiency in one of the enzymes responsible for the metabolism of glycogen in the body. Individuals with this disease, lack or produce very small concentrations of the myophosphorylase or glycogen phosphorylase enzyme. McArdle’s disease is a metabolic and recessive genetic disease caused by a mutation on the PYGM gene located on chromosome 11q13. This gene is responsible for the synthesis of the myophosphorylase (or glycogen phosphorylase) enzyme. It is the most common form of muscular glycogenesis. We present here the clinical case of a 35 years old woman diagnosed with McArdle’s disease at the age of 21 after a visit to a Neurologist. It was confirmed that the patient had shown symptoms of this disease at least 10 years before definitive diagnosis: intolerance to exercise, asthenia and muscular weakness. In this report we describe the different signs and symptoms of the disease, as well as the tests performed to confirm the diagnosis by muscle biopsy and genetic analysis. McArdle’s disease is classified as a rare disease and often its diagnosis is delayed due to a lack of knowledge about its symptoms and signs. Our intention is to make, with the description of our clinical case, the information about this disease more available to physicians to prevent future misinterpretations and delayed diagnosis. A medical documentary we have created on “McArdle’s Disease” can be seen in YouTube using the following links: https://youtu.be/HAhoZ7jxz7Q (English version) and https://youtu.be/uZopzSHOl20 (Spanish version).

Background: Prophylactic dental procedures following implant placement are critical to the long-term success of implants and are also dependent on the patient maintaining effective home care.Purpose: Evaluation of the effectiveness of preventive measures in patients with diabetes during long periods after prosthetic treatment with implants.Materials and methods: The study included 62 patients with diabetes with edentulism using 146 dental implants. Patients underwent constant monitoring, including regular occupational hygiene during follow-up examinations. Their frequency was set individually from 2 to 4 times A clinical index including Bleeding on Probing (BOP), Probing Depth (PD), and Marginal Bone Loss (MBL). Results: In patients included in the preventive protocol after 12 months, the mean BOP was 1.4 ± 0.15, and PPD was 2.46 ± 0.42. After 12 months in patients mean MBL was 0.72 ± 0.6 mm, after 3 years MBL was 1.24 ± 0.25 mm. For patients who were excluded from preventive services after 12 months, the mean BOP 1.9 ± 0.25, and the mean PPD was 3.56 ± 0.28). After 12 months in patients mean MBL was 0.87 ± 0.7 mm, after 3 years MBL was 1.52 ± 0.32 mm (p > 05). Compared to persons enrolled in the preventive protocol, those in the group without services were more likely to develop peri-implantitis (42.4% vs. 12,6%). The survival rate of implants after 3 years was 98.4%. The survival rate of implants in those patients who were excluded from preventive services after 3 years was 95.4%.Conclusion: For patients with diabetes, regular medical examinations, accompanied by professional oral hygiene procedures, prevent the development of negative reactions of the soft tissues surrounding the implant.

Nutritious and safe foods are essential to meet normal physiological and metabolic functions. This study evaluated heavy metals in selected food products for newborns and toddlers. These substances may result in adverse health risks and young children are extremely vulnerable due to their immature immune systems and organs. Industrialization and technological advancement have contributed to an increase in heavy metals in the soil; therefore, entering the food system in potentially harmful amounts. Safe levels have been established by monitoring agencies to reduce the presence of heavy metals. Ten national brands of baby foods were analyzed for selected heavy metals. The main ingredients ranged from vegetables, fruits, dairy, poultry, meats, and grains. The products were analyzed in triplicates using QQQ-ICP-MS instrumentation to detect the presence of arsenic, cadmium, zinc, lead, nickel, aluminum, and chromium. Based on the Agency for Toxic Substances and Disease Registry [1] guidelines for safe quantities, aluminum (4.09 µg/g and 2.50 µg/g) and zinc (33.5 µg/g 69.5 µg/g, and 30.2 µg/g) exceeded the recommended levels of 1 µg/g/day and 2 - 3 µg/g /day respectively. Mixed model analysis found significant differences in metal concentrations (F6,24 = 2.75, p = 0.03) with an average metal concentration of 0.96 µg/g. However, no significant correlations were found between the packaging materials used and the observed metal concentrations in the food samples. The study concluded that the presence of heavy metals may be due to food type and the soil on which it is grown and not the packaging materials, establishing food system contamination by heavy metals.

Background: Vascular closure devices are routinely used following femoral artery access to perform percutaneous coronary interventions (PCI). A number of devices are available on the market. We have reported previously on our experience of the Mynx device following diagnostic coronary angiography. Aims: To assess the success and complication rates of the Mynx device used in all-comers in the context of PCI within a single cardiac centre. Methods: Retrospective analysis of data available for patients who underwent PCI via the femoral route and received a Mynx device at a single tertiary centre. Results: The device was used to achieve haemostasis in 113 patients following PCI. In all cases weight-adjusted Heparin as well as dual antiplatelet therapy (Aspirin and Clopidogrel/ Ticagrelor) was administered as per PCI protocol. The device was successfully deployed in 111 cases (98.2%). The were 2 cases of device failure, one due to operator error and the other due to Mynx grip balloon bursting during device deployment. In 15 cases (13.2%; 9 male and 6 female) there were reports of small haematomas (<2cm) or oozing resulting in application of manual pressure or Femstop (St. Jude). A further patient required ultrasound-guided compression of the artery due to a large retroperitoneal bleed resulting from access complications. A larger proportion of the cases with complications were done as PPCI (44% vs 33%). The group with complications had higher systolic BP (140mmHg vs 128mmHg; P<0.05) and MABP (97mmHg vs 75mmHg; P<0.05) as compared with the group without any complications. Conclusion: The Mynx closure device is safe and easy to use in the context of PCI, in both the elective and emergency (PPCI) settings. Complication rates, predominately minor, can be minimised in experienced hands.

Urine typically has an amber-yellow color due to the amorphous pigment urochrome, a distinct scent, and an average pH of 6.0, which is somewhat acidic. Green urine can result from drug intake, dyes, infections, adverse drug reactions, and other causes. Less than 1% of propofol users experience green urine, a rare and benign side effect. The green tint in urine is caused by the phenolic metabolites of propofol. In this case, a 33-year-old man diagnosed with organophosphorus poisoning and aspiration pneumonia had been given a modest dose of propofol sedation for six hours and began to exhibit green urine. After five hours of halting the propofol infusion, the urine returned to its usual color. Healthcare practitioners should be aware of this unusual but safe side effect of propofol.

Background: An increasing body of evidence indicates that inflammatory activation profoundly impacts the electrophysiological properties of cardiomyocytes. A marker of systemic inflammation such as C-reactive protein(CRP), is associated with all parameters of the Mtabolic syndrome(MetS) and that may result in adverse cardiac events via multiple effects, ultimately resulting in a prolongation of Action Potential duration (APD), and thereby of the QTC (QT corrected) interval on ECG. Objective: We sought to investigate the influence of CRP levels on the prevalence of prolonged QT-dispersion and prolonged Tpeak-Tend –dispersion in the patients with MetS. Methods: We conducted a multicenter observational cross-sectional study. The study population consisted of 200 patients with MetS, stratified in two groups:103 participants (50 females and 53 males) with level of CRP>3mg/l, and 97 participants (47 females and 50 males) with level of CRP<3mg/l), who attended outpatient visits at general cardiology Health Care Clinics during 1 calendar year. For the analysis of the ECG, we performed a manual measurement of the values using a digital caliper with measuring range of 0-150 mm, 0.01 mm resolution, and 0-100 ± 0.02 mm accuracy. QT interval dispersion was obtained by the difference between the maximum and the minimum QT intervals found in the 12-lead electrocardiogram. The Tpeak-Tend interval was obtained from the difference between QT interval and QTpeak interval. Results: Prolonged QTC. dispersion, was found in 51.4% of participants with level of CRP>3mg/l and in 32.9% of with level of CRP<3mg/l, the differences were statistically significant. (p=0.004). The results showed that 51.4% participants with level of CRP>3mg/l had a prolonged Tpeak-Tend interval, and 32.9% of participants with level of CRP<3mg/l had prolonged Tpeak-Tend interval. Difference were statistically significant.( p=0.04). There were significant association of increased levels of CRP and QTC-dispersion (OR = 2.486, 95% CI 1.389-4.446).There were significant association of increased levels of CRP with Tpeak-Tend Dispersion (OR=2.239,95%CI 1.262-3.976). Prolonged QTC max. Interval OR=2.236,%CI 1.246-4.014),Prolonged Tp-Te-interval. (OR=2.367, 95%CI 1.327-4.222), also there were significant association of increased levels of CRP with BMI. (OR=1.154, 95%CI 1.095-1.227) and significant association of increased levels of CRP with presence of uncontrolled glicemia.(OR=1.779, 95%CI 1.014-3.12). Conclusion: We think we proved the hypothesis that patients with MetS and high level of CRP have higher prevalence of QT- dispersion and Tpeak-Tend dispersion than patients with MetS and lower level of CRP. These findings have both epidemiological and clinical relevance, also these findings might lend further insight into potential mechanisms by which MetS is associated with adverse cardiac events.

A male, 4 days old and 20 kg Simmental calf was evaluated for regurgitation and hyper salivation since birth. The mother became pregnant by artificial insemination and the pregnancy was the second of the mother. A membrane closed the pharynx and a diverticulum on dorsal of this membrane was seen during oropharyngeal examination through inspection. Membrane was also viewed by endoscopy under general anaesthesia. Larynx and oesophagus were imaged by bronchoscopy through the back side of the membrane. After these applications, it was decided that soft palate adhered firmly to the root of tongue causing congenital atresia. Surgical treatment of oropharyngeal membrane was carried out under general anaesthesia. Firstly, tracheotomy was performed for to ease breathing and membrane removed by electrocautery application. Intensive fluid accumulation and oedema formation at the incision area were detected by endoscopic examination following operation and the calf had severe dyspnoea two days after operation and died due to respiratory insufficiency. At necropsy, severe inflammatory reaction, laryngeal oedema and intensive salivation at the surgical side was determined. Direct imaging techniques should be used to determine in the closed oropharyngeal lumen. Moreover, nasopharyngoscopy should be considered to image larynx and oesophageal way. Present case is the first report with concern to pharyngeal membrane formation together with direct imaging and surgical procedures. Therefore, it was considered that this case report could be useful for colleagues and literatures.

Background: The prognostic significance of impaired left ventricular (LV) relaxation and increased LV stiffness as precursor of heart failure with preserved ejection fraction and death is still largely unknown in apparently healthy subjects. Methods: We constituted a cohort of 353 patients with normal ejection fraction (>45%) and no significant heart disease, based on a total of 3,575 consecutive left-sided heart catheterizations performed. We measured peak negative first derivative of LV pressure (-dP/dt) and operating chamber stiffness (Κ) using a validated equation. Patients were categorized as having: 1) normal diastolic function, 2) isolated relaxation abnormalities (-dP/dt > 1860mm Hg/sec and K <0.025mm Hg/ml), or 3) predominant stiff heart (K ≥0.025mm Hg/ml). Results: During a follow-up of at least 5 years, the incidence of the primary composite endpoint (death, major arterial event, heart failure, and arrhythmia) was 23.2% (82 patients). Compared to isolated relaxation abnormalities, predominant stiff heart showed stronger prognostic significance for all events (p=0.002), namely heart failure (HR, 2.9; p=0.0499), cardiac death (HR, 5.8; p=0.03), and heart failure and cardiac death combined (HR, 3.7; p=0.003). Conclusion: In this apparently healthy population referred to our center for cardiac catheterization, the prevalence of diastolic dysfunction was very high. Moreover, predominant stiff heart was a better predictor of cardiovascular outcomes than isolated relaxation abnormalities.

Trichosporonosis is a disease caused by Trichosporon spp. which are ubiquitous anamorphic yeast that commonly inhabit the soil. In human they are found in the skin, gastrointestinal tract and respiratory tract. Globally, Trichosporon spp. infection is rare and remains scantily reported in urinary tract infections and disseminated invasive infection amongst immunocompromised and cancer patients with neutropenia. Trichosporon asahii is the most commonly reported species. Virulence factors like proteinases, lipases, and phospholipases may be responsible for disease manifestation. We report a case of recurrent urinary tract infection due to Trichosporon spp. in a 62-year-old immunocompetent diabetic female which remained misdiagnosed for a long period of time. The patient was subsequently treated successfully by oral fluconazole drug.

Introduction: Klippel-Feil syndrome (KFS), is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. In some individuals, KFS can be associated with a variety of additional symptoms and physical abnormalities which contribute in the deterioration and complication of the condition of the child. Aim of presentation: Here, we report five children from Kosovo with KFS associated with different heart abnormalities, clinical presentation, diagnosis, management, and outcomes of selected conditions in resources-limited settings. Methods: Retrospectively we analysed medical reports of five children, diagnosed at different age with congenital disease and clinical and lab signs of Klippel-Feil syndrome. Conclusion: Basing on our cases, all diagnosed in a small country as a Kosovo, we can conclude that KFS is not such a rare condition. In addition, such syndrome is not so rarely associated with different congenital heart disease. In four cases cardiac surgery was indicated and successfully was done abroad Kosovo in the lack of such services in Kosovo.