Volume 9, Issue 3

Acute biliary infection (acute cholecystitis and acute cholangitis) is one of the common emergency conditions which carries significant morbidity and mortality. The risk factors are often associated with gallstones, biliary stasis and bile infection. Gram-negative bacteria are frequent isolates from bile and blood cultures in infectious cholangitis. Endotoxaemia from the gram-negative microbes results in circulatory shock and organ dysfunction. Therefore, prompt diagnosis with severity stratification and recognition of its potential rapid progression to life-threatening shock and multi-organ failure ensure execution of the three fundamental interventions in the initial management strategy, namely: resuscitation to support the organ, antimicrobial therapy and biliary decompression drainage to control the infection. This is the core principle in the management of severe acute cholangitis.

Left gastric artery pseudoaneurysm is a rare but important life-threatening complication of chronic pancreatitis. We report a case of a 54-year-old male with chronic pancreatitis who presented with history of severe abdominal pain. Following an initial suspicion of acute pancreatitis, a computed tomography of abdomen was obtained that showed a large left gastric artery pseudoaneurysm (4×4 cm) with circumferential thrombosis. The patient then underwent successful angiographic coiling of the aneurysm, thus preventing a potentially life-threatening hemorrhage. In conclusion, in patients with a history of chronic pancreatitis who present with abdominal pain, a high index of suspicion should be maintained for alternate causes of abdominal pain such as visceral aneurysms involving left gastric artery. Early recognition is critical and consequences of missing these lesions can be catastrophic.

Our aim in this prospective study was to determine the impact of laparoscopic sleeve gastrectomy on the quality of life of patients with morbid obesity in comparison with population standards. The study evaluated 76 morbidly obese patients who underwent laparoscopic sleeve gastrectomy. The short version of the World Health Organization Quality of Life questionnaire (WHOQOL-BREF) was used to evaluate quality of life in the following four areas: physical health, mental health, social relations, and environment. Patients completed the questionnaire before their planned operation and again 3 and 6 months after surgery. Compared with the population standard, patients with morbid obesity had significantly lower quality of life scores in the physical and mental health domains, including on independent questions related to of overall health and quality of life (p<0.001). Women scored lower on indicators of mental health than men. Three and 6 months following surgery a significant trend of body mass index (BMI) reduction was seen, as well as increased quality of life in all indicated areas (p<0.001). Laparoscopic sleeve gastrectomy treatment in morbidly obese patients reduced BMI on a long-term basis, a change seen as early as 3 months after surgery. By 6 months after surgery, patients had the same quality of life scores as the reference population.

The development of non-small-cell lung cancer (NSCLC) is a multistep process, which is triggered and maintained by various factors. Many steps of non-small-cell lung carcinogenesis, risk factors and biomarkers have been identified; however no consistent model has been established of personalized medicine for these patients. Distinct various gene expression, products of mutated genes and other markers such as circulating nucleic acids or tumor cells has been proven to be potential biomarkers of non-small cell lung cancer as well as potential targets for new treatment strategies. This article will highlight promising biomarkers in non-small cell lung cancer prognosis.

Multiple ring enhancing lesions (MREL) in the brain can be caused by a variety of diseases including infections, inflammatory and neoplastic conditions. We present the case of a patient with new onset unilateral jerking movement of the arm who was found to have sixteen ring enhancing lesions (RELs) in the brain on MRI. Further workup revealed a primary small cell lung cancer. The differential diagnosis of multiple ring enhancing lesions is discussed. The astute clinician should be aware of this rare but important radiological finding.

The orbital rhabdomyosarcoma is one of the most frequent malignant orbital tumours in children. At this age, the common histological types are the embryonal and alveolar type. The onset is mainly under the age of 16. Without a recent and correct treatment it can give metastasis in lung and bone. The hereby paper presents one clinical case of a teenager presented at the ophthalmological consultation for a small tumor located in the superomedial part of the orbit. Computed tomography (CT) and magnetic resonance imaging (MRI) supported the diagnosis revealing the location and extension of the tumor. During the surgery, we discovered two small tumors and the histological examination revealed an embryonal type of orbital rhabdomyosarcoma. After the surgery, the patient followed an oncological treatment consisting of chemotherapy and local radiotherapy. The prognosis for life was favorable, linked with the recent diagnosis and treatment, the histological type and the good response at the oncological treatment.

Leiomyosarcoma of inferior vena cava is a rare malignant mesenchymal tumor of the venous system that typically occurs in adulthood. Correct and early recognition of leiomyosarcoma is very important, because a complete resection of the tumor (with occasionally chemio-or radiotherapy) can lead to prolonged survival. We report a case of a 54-year-old man suffering from the leiomyosarcoma of inferior vena cava with infiltration of retroperitoneum and right adrenal gland.

During the transformation process single nucleotide polymorphisms (SNPs) of key genes, such as p53 Arg72Pro or EGF A61G, may mediate various cellular processes. These variants may be associated with colorectal cancer risk (CRC), but conflicting findings have been reported. The purpose of this study was to determine the association of the SNPs in 5′ UTR of EGF A61G and p53 Arg72Pro and CRC in the Slovak population. The present case-control study was carried out in 173 confirmed CRC patients and 303 healthy subjects. Genotyping was performed by PCR-RFLP methods. Significant association was observed between age and CRC risk (p=0.001). Lower CRC risk was seen in younger patients carrying genotype p53 Arg72Pro (0.14; 95% CI 0.02–0.99, p=0.049). Gender-stratified analysis showed a significant inverse association of the polymorphism EGF G61G with CRC risk (0.48; 95% CI 0.2–0.9, p=0.04) only in male patients. Tumour site genotype distribution revealed that female patients with localized colon cancer were significantly associated with p53 Pro72Pro genotype (4.0; 95% CI 1.27–12.7, p=0.04) whereas the cancer of rectosigmoid junction was associated with the EGF G61G genotype (4.5; 95% CI 1.2–16.97, p=0.02). Combination of p53 Arg72Pro or EGF A61G polymorphisms were not associated with CRC risk by using logistic regression.

Multiple endocrine neoplasia syndrome, type 1 (MEN1) is an underdiagnosed autosomal dominant inherited cancer predisposition syndrome with inter- and intrafamilial variability without a known genotype-phenotype correlation. Disease is caused by mutations in the MEN1 gene located on chromosome 11, but other genes (CDKN1B, AIP) and mechanisms might be involved too. We performed retrospective case series study of MEN1 syndrome patient and his family and present our experience of management of genetically confirmed 9 MEN1 syndrome large family members from Lithuania with novel MEN1 gene mutation (MEN1 exon 6 — c. 879delT (p.Pro293Profs*76)) and delineate its clinical phenotype. At present the diagnosis of MEN1 syndrome must be established by direct mutation testing. MEN1 syndrome patients, their relatives and patients suspected of MEN1 are eligible for mutation testing. Patients with MEN1 have a shorter life expectancy than the general population. MEN1 patients and mutation carriers should be subjected to periodic screening in order to detect manifestations in an early stage. Early genetic diagnosis and subsequent periodic screening is associated with less morbidity and mortality at follow-up. Our study confirmed the absence of genotype-phenotype correlation and showed high intrafamilial clinical expression variability of the MEN1 syndrome.

The efficacy of amiodarone is tempered by its toxicity, with 50% of long-term users discontinuing the drug. The non-cardiac side effects of amiodarone may involve central and peripheral nervous system. We studied two patients treated with amiodarone for 46 and 15 months respectively. Both patients exhibited progressive distal extremity weakness, impaired perception, loss of deep reflexes. Electrophysiology identified a widespread, sensorimotor polyneuropathy with features of axonal loss and demyelination. Visual evoked potentials (VEPs) showed prolonged P100 latency bilaterally in absence of visual symptoms or brain magnetic resonance imaging (MRI) abnormalities. Extensive laboratory examinations excluded known causes of peripheral neuropathies. At 21 months after amiodarone withdrawal, P100 latency of case 1 VEPs returned to normal, whereas polyneuropathy continued to progress. In the second patient neuropathy has worsened similarly over 2 years whereas P100 latency of VEPs recovered to normal within 7 months after withdrawal of amiodarone. These findings may suggest different mechanisms of toxicity, which could be due to amiodarone pharmacokinetic and its metabolite effects on the peripheral nerves, as opposed to the optic nerve. We emphasize that use of amiodarone needs monitoring of patients at risk of development side effects.

A severe hypertension was found in a 9 month old boy with signs and symptoms of severe arterial hypertension. An upper left branch renal artery stenosis complicated with multiple thrombosis and cardiac hypertrophy was diagnosed. Surgical heminephrectomy of the upper pole of the left kidney was successful in blood pressure normalization with significant improve of cardiac function and thrombosis recanalization.

Animal teeth are a common model in studies on dentin adhesive materials. The aim of this study was to compare microstructural parameters (density and diameter of dentinal tubules (DT), peritubular dentin (PTD) thickness, PTD and intertubular dentin (ITD) surface area) and chemical characteristics of canine, porcine, equine, and human root dentin. The middle layers of dentin were harvested just below a cemento-enamel junction from incisors and investigated by means of scanning electron microscopy (SEM) and energy dispersive X-ray spectroscopy (EDXS). SEM evaluation of the specimens revealed, that porcine dentin shared most similarities with human dentin. When comparing the density of DTs, canine dentin was also found to be similar to human dentin. Elemental composition of the root dentin did not differ significantly in porcine, equine and human dentin, but in canine dentin higher magnesium value in PTD compared to ITD was found. It is known that microstructural and chemical characteristics affect the strength of the adhesive bonds created among restorative materials and dentin. According to the results of this study, porcine dentin seems to be the most appropriate model to study dental materials to be used in human restorative dentistry.

The aim of this study was to describe the clinical features, management strategies and outcomes of 31 infants with systemic capillary leak syndrome (SCLS) secondary to sepsis or systemic inflammatory response syndrome. There were 23 boys and 8 girls, with an average age 9.6 ± 2.1 days (range, 3.1 to 20 days). The primary disease was pneumonia in 11 patients and sepsis in other 20. Within 72 hrs of admission, all had progressive skin and mucosal edema, septic shock, respiratory distress, oliguria and severe hypoalbuminemia (10–20g/L). Other complications were pulmonary edema or hemorrhage, disseminated intravascular coagulopathy, heart failure, renal or liver dysfunction. All patients were treated with mechanical ventilation with a mean mechanical ventilation time of 19.7± 3.5 days. Intravenous hydroxyethyl starch was also applied at an early stage for 4–12 days, together with broad spectrum antibiotics, plasma and albumin infusion. Twenty one patients (67.0%) were discharged from the neonatal intensive care unit after a median stay of 29 days, and 7 died (37.0%) in the hospital. During a 6.3-month follow-up, 4 patients had hydrocephalus and another 4 had muscle spasm or rigidity in the lower-limbs. We conclude that SCLS is a serious complication of neonatal sepsis with a high rate of in-hospital mortality and post-discharge disability.

Abstract. Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation. As far as we know, the rate of incidence for the syndrome is 0.02 per 10,000 births. It is estimated that Meckel-Gruber syndrome accounts for 5% of all neural tube defects in Finland. Objective. The aim of this study is to present a case of a fetus with Meckel-Gruber syndrome associated with complete left isomerism. Method. The fetus was obtained after medical interruption of the pregnancy during the fifteenth gestational week. The mother was 36 years old and in a consanguineous marriage. The antenatal ultrasound examination revealed a polymalformative syndrome, leading to a postmortem examination. The fetopathological study of the fetus was conducted at the Centre for Maternity and Neonatology, Tunis, Tunisia, in 2008. Results. The female fetus had a significantly deformed ballooning abdomen, pes equinovarus, flexion of the wrist and a total posterior cleft palate. The central nervous system abnormalities were occipital encephalocele, cystic dilatation of the fourth ventricle, agenesis of corpus callosum and hydrocephalus. The study of the internal organs found dextrocardia, irregular lobulation of the lungs, left isomerism, and polysplenia. The microscopic examination revealed bilateral cystic dilation of the kidneys, fibrous proliferation of the liver and ectasic dilatation of the billiary ducts, representing a ductal plate malformation of the liver. Conclusion. The case is diagnosed with Meckel-Gruber syndrome associated with complete left isomerism, cleft palate and possibly Dandy-Walker syndrome.

Gentamicin is readily used for suspected or proven sepsis in neonates, yet it shows considerable inter-individual pharmacokinetic variability, which limits achievements of therapeutic levels. Hence, the aim of this study was to compare peak and trough gentamicin concentrations according to dosing regimen, to evaluate pharmacokinetic parameters, and to consider adjustments of dosing regimen. Babies with infection were treated with 1 h infusion, and daily dose of 5 or 7.5 mg/kg depending on the age. Patients were randomized into two groups: I — dosing interval 12 h (n=8), II — 24 h (n=11). Two steady-state blood samples were obtained. Pharmacokinetic parameters were calculated using one-compartment model. The results showed a difference (p<0.05) in peak gentamicin concentrations between the groups, and tendency of lower trough levels in the group II. Calculated pharmacokinetic parameters included the volume of distribution (Vd) 0.52±0.47 l/kg, clearance (CL) 0.055±0.036 l/hkg and a half-life (t1/2) of 6.89±3.21 h. Based on the method for dosing regimen adjustments, there was a need to extend dosing interval to 36 h in 6 patients

TRAP (Twin Reversed Arterial Perfusion) sequence is a rare malformation that occurs in monozygotic twin pregnancies. Twin weight ratio in our case was 76% (body weight of pump twin was 1800 g, acardiac twin 1370 g), but in spite of that the pump twin had a mild clinical picture with premature birth, fetal hydrops (mild pleural effusion; hypoproteinemia; on the 3rd day of life the baby was without edema and the level of his serum proteins were in referral ranges) and mild myocardial hypertrophy of left ventricle (echocardiography performed on the 28th day of life was normal).

Introduction. Gitelman syndrome (GS) is a rare inherited disorder. Mutations in SLC12A3 gene that encode tubular Na+Cl-cotransporter (NCCT) cause hypokalemic metabolic alkalosis, salt loss, hypomagnesaemia and hypocalciuria. The symptoms include weakness, vertigo, hypotension, tetany, paresthesia and nausea. Diagnostic criteria are a normal urine concentrating ability, normal glomerular filtration rate (GFR), hypomagnesaemia (<0,65mmol/l), hypokalemia (<3,6mmol/l) and hypocalciuria (<0,1mmol/mmol creatinine). Previously, the diagnosis was made by exclusion. Today, genetic analysis can ensure diagnosis. Thiazide diuretics (TD) abuse with similar abnormalities can make the differential diagnosis difficult. Causal therapy of GS does not exist. The substitution of potassium and magnesium are therapeutic strategies. Case presentation. A 41-year-old obese woman presented at the emergency department with recurrent episodes of hypokalemia with concomitant weakness, muscle cramps, polyuria and collapse. The results of laboratory testing of blood and urine led to the suspected diagnosis of GS. In the follow-up examinations, the results were inconsistent. Therefore, a transient thiazide diuretics abuse was assumed. Discussion. This case demonstrates the difficulties in making the diagnosis of GS on the basis of only clinical and laboratory tests, without the use of genetic analysis. The differentiation between GS and thiazide diuretic abuse is especially difficult.

Sensory ganglia comprise functional units built up by neurons and satellite glial cells (SGCs). In animal species there was proven the presence of neuronoglial progenitor cells in adult samples. Such neural crest-derived progenitors were found in immunohistochemistry (IHC). These findings were not previously documented in transmission electron microscopy (TEM). It was thus aimed to assess in TEM if cells of the human adult trigeminal ganglion indeed have ultrastructural features to qualify for a progenitor, or quiescent phenotype. Trigeminal ganglia were obtained from fifteen adult donor cadavers. In TEM, cells with heterochromatic nuclei, a pancytoplasmic content of free ribosomes, few perinuclear mitochondria, poor developed endoplasmic reticulum, lack of Golgi complexes and membrane trafficking specializations, were found included in the neuronal envelopes built-up by SGCs. The ultrastructural pattern was strongly suggestive for these cells being quiescent progenitors. However, further experiments should correlate the morphologic and immune phenotypes of such cells.

The simultaneous application of intravenous fat emulsion and charcoal hemoperfusion in the case of severe quetiapine poisoning is described. The initial blood concentration of quetiapine was 5.9 µg/mL and rapid deterioration in the patient status was observed. When a lipid emulsion was infused a fast blood pressure recovery occurred which allows to perform extracorporeal clearance using charcoal hemoperfusion. At the end of the procedure the quetiapine concentration was decreased down to 1.5 µg//mL and fast recovery of the patient was observed.

In this case report we describe the delayed diagnosis of a very rare congenital anomaly — isolated partial anomalous pulmonary venous connection. This congenital anomaly should be suspected at any age in the clinical setting of right heart volume overload, especially in the absence of a large atrial septal defect. Tomographic imaging modalities (computed tomography or cardiovascular magnetic resonance) not only allow the comprehensive structural and functional assessment of this anomaly, but also help assess the patient’s suitability for surgical treatment. Surgery is the definitive treatment of a patient with a significant left-to-right shunt due to partial anomalous pulmonary venous connection.

Objective: To identify the viewpoints and perceptions of different stakeholders regarding high cost medicines (HCMs). Methods: A systematic review of the literature was performed to identify original research articles. Using predefined categories, data related to the viewpoints of different stakeholders was systematically extracted and analyzed. Results: Thirty seven original research articles matched the criteria. The main stakeholders identified include physicians, patients, public and health funding authorities. The influence of media and other economic and ethical issues were also identified in the literature. A large number of stakeholders were concerned about lack of access to HCMs. Physicians have difficulty balancing the the rational use of expensive drugs while at the same time acting as “patients’ advocate”. Patients would like to know about all treatment options, even if they may not be able to afford them. The process and criteria for reimbursement should be transparent and access has to be equitable across patient groups. Conclusion: Access to HCMs could be improved through transparency and involvement of all stakeholders, especially patients and the public. Moral issues and the “rule of rescue” could influence decision-making process significantly. At system level, objectivity is important to ensure that the system is equitable and transparent.