Tay-Sachs disease (TSD) is a rare, inherited, autosomal rececessive lysosomal storage disease. The late-onset form is an uncommon condition among non-Jewish population.
We present the case of a 32 years old male patient without Jewish origins, in whom the disease began in adolescence and was initially diagnosed with spinal muscular atrophy. He developed progressively protean neurological symptomatology, including tetraparesis, cerebellar and extrapyramidal syndromes. The diagnosis was based on the cerebral MRI, showing severe cerebellar atrophy and the determination of the Hexosaminidase A activity, revealing low level.
In patients showing signs of lower motor neuron involvement, cerebellar and pyramidal signs and marked cerebellar atrophy the late-onset TSD should be suspected, and the first step in establishing the diagnosis should be to determine the serum activity of Hexosaminidase A.
Category Archives: AMM 2017, Volume 63, Number 4
Colorectal Carcinoma in a Patient with Situs Inversus Totalis
Introduction: Colorectal cancer is one of the most common types of malignant tumors worldwide. In patients with situs abnormalities such as situs inversus totalis or situs ambiguus, the presence of this tumor could be a challenge for the surgeon, especially in cases in which the laparoscopic approach is considered.
Case presentation: We report the case of a 69-year-old male patient with situs inversus totalis. This particular case of situs inversus totalis was not a classical type because the patient had bilateral bilobed lungs, polysplenia, preduodenal portal vein in association with midgut malrotation. The pathology report after surgery revealed moderately differentiated adenocarcinoma of the sigmoid colon, stage pT3 N1c M1a, liver metastases but without metastases in the eight resected lymph nodes. We compared this rare association of diseases of particular anatomic aspects with other reports in the specialty literature.
Conclusion: The identification of situs abnormalities or other malformations in patients with resectable colorectal cancer is essential, thus preoperative imaging studies are imperative for a proper surgical management. Colorectal cancer metastasizing patterns in patients with intestinal malrotation need to be further investigated.
Simultaneous Extrahepatic Portal and Iliac Veins Thrombosis After Abdominal Surgery – A Case Report and Review of Literature
Introduction: Extrahepatic portal vein thrombosis (EPVT) is the most frequent cause that leads to portal hypertension in non-cirrhotic patients. This condition is related to systemic and local risk factors (such as inflammatory lesions, injuries to portal venous system by surgery, vascular procedures).
Case presentation: A case of extended extrahepatic portal vein thrombosis and simultaneous thrombosis of left common iliac vein and inferior vena cava, appeared after abdominal surgery in a hypertensive, diabetic, 50 y.o. man is presented. An acute episode of abdominal pain was interpreted as an emergency and a surgical (initially laparoscopic and then open) procedure was planned in order to perform an appendectomy. Discharge diagnosis was hemoperitoneum secondary to iatrogenic rupture of sigmoid mesocolon provoked by trocar manipulation. Repeated imaging studies performed later revealed the thrombosis of portal vein with extension into right portal branch associated with superior mesenteric thrombosis and free-floating thrombus into left common iliac vein extended towards inferior vena cava. Surgical manoeuvres are considered as triggers of these thrombotic events. After 4 weeks of parenteral anticoagulation a partial recanalization of thrombi was identified, without bleedings.
Conclusions: Acute EPVT needs a carefully management. Case is linked to abdominal surgery and requires prolonged anticoagulation related to simultaneous portal and iliac vein thrombosis. Associated conditions (hypertension and diabetes mellitus) must have an appropriate approach. After our knowledge this is the first case published in literature.
Lacosamide Reduces Seizure Severity but Increases Seizure Frequency in PTZ-Kindled Rats
Objective: This study evaluated the anticonvulsant action of lacosamide (LCS), a novel drug that was recently approved for the treatment of partial or secondarily generalized seizures, using an animal model of generalized epilepsy induced by repetitive pentylenetetrazole (PTZ) administration in rats. The main goal was to evaluate the behavioral pattern of lacosamide action by classifying seizures according to a modified Racine-scale. Furthermore, the reproducibility of the win-PTZ kindling model of epilepsy, a recently described variant of the standard PTZ-kindling model, was also assessed.
Methods: Adult male Wistar rats (n=16) were divided into two groups and underwent the win-PTZ-kindling protocol in two independent trials. After finishing the kindling procedure, all animals, which presented stage 5 seizures were tested for the anticonvulsant action of lacosamide at three different doses (3, 10, and 30 mg/kg).
Results: The maximal severity of seizures decreased and the latency to stage 3-5 seizures increased when the animals were treated with lacosamide at a single dose of 10 mg/kg compared to saline pretreatment (p < 0.05), both parameter reflecting an anticonvulsant action of the drug. Unfortunately, the number of stage 3-5 seizures also increased, but not significantly. The win-PTZ kindling model showed an adequate reproducibility between different trials, however, the number of fully kindled rats was lower than previously reported.
Conclusions: Lacosamide showed a convincing anticonvulsant action in the win-PTZ kindling model of epilepsy by preventing the generalization of seizures. The win-PTZ kindling model was proved to be useful for studying epileptogenesis and the anticonvulsant action of drugs.
Risk Factors Associated with Acute Coronary Syndrome after Successful Percutaneous Coronary Intervention
Objective: Admission for acute coronary syndrome after successful percutaneous coronary intervention is a delicate situation for the patient and doctor. Predictors of these cases are poorly described.
Methods: We retrospectively analysed the files of post-percutaneous coronary intervention patients admitted to the Department of Cardiology of the Institute for Cardiovascular Disease and Heart Transplant in Tirgu Mures between January 2012 and December 2015. Analyses using the t-test, chi-square test, and Fisher test were performed to compare demographics, clinical and angiographic characteristics of patients with acute coronary syndrome, patients with stable angina, and those without symptoms.
Results: One hundred eighty post-percutaneous coronary intervention patients were readmitted; 46 patients (25.55%) were readmitted for acute coronary syndrome. Histories of arterial hypertension and renal dysfunction at hospital admission were associated with acute coronary syndrome. Bare metal stent in-stent restenosis and localisation of bare metal stent in-stent restenosis of the left descendent coronary artery were angiographic predictors of acute coronary syndrome.
Conclusion: Several clinical and angiographic factors identify patients at high risk for acute coronary syndrome after successful percutaneous coronary intervention. Recognition and treatment of these factors may prevent readmission for such a dangerous condition and may improve outcomes.
The Relation of Dysfunctional Cognitive Schemas and Personality Dimensions in Generalized Anxiety Disorder
Objective: This study investigated whether differences exist in the structural personality dimensions and eighteen maladaptive cognitive schemas among in- and out-patients (Clinical Group) diagnosed with Generalized Anxiety Disorder (GAD) and people from the general population without any psychiatric diagnostic (Control Group).
Methods: The Generalized Anxiety Disorder (GAD) sample (N = 100) included 35 (35%) men and 65 (65%) women, with a mean age of 36.4 years (SD = 10.86; age range 18-69). The control sample (N = 100), included 28 (28%) men and 72 (72%) women, with a mean age of 27.1 years (SD = 9.8; age range 19-60). Data were simultaneously analyzed with one-way multivariate analysis of covariance (MANCOVA) to measure the effect of group membership on personality dimensions and on dysfunctional cognitive schemas, controlling for participants’ age. Next, univariate analyses of covariance (ANCOVAs) were done on each item with covariate-adjusted post-hoc comparisons.
Results: The results indicate that the Clinical Group participants had unfavorable scores on all five personality dimensions (i.e., Openness, Extraversion; Conscientiousness; Agreeability; and Emotional Stability – Neuroticism) and for almost all of the dysfunctional cognitive schemas in comparison with participants in the Control Group.
Conclusions: These results have general implications in understanding Generalized Anxiety Disorder (GAD) clients and their personality characteristic’s profile and dysfunctional/maladaptive cognitive schemas.
Validation of High Performance Liquid Chromatography Methods for Determination of Meloxicam and Tenoxicam from Transdermal Therapeutic Systems
Objective: The aim of this study was to develop and validate two HPLC methods for the quantification of meloxicam and tenoxicam from transdermal therapeutic systems.
Methods: Based on 1.0% hydroxypropyl methylcellulose 15000, transdermal patches containing meloxicam or tenoxicam were prepared by solvent evaporation technique. Analytical performances of the HPLC methods for the quantification of meloxicam and tenoxicam from such systems were assessed in terms of specificity, linearity, detection limit, quantification limit, recovery and precision.
Results and discussion: The linearity of the method was assessed through a calibration curve in the 1.0 – 75.0 μg∙mL-¹ concentration range, with a regression coefficient higher than 0.999. The detection limit and the quantification limit were found to be 0.46 μg∙mL-¹ and 1.39 μg∙mL-¹, for meloxicam; and 0.88 μg∙mL-¹, respectively 2.64 μg∙mL-¹ for tenoxicam. According to the European Pharmacopeia 5.0 the mean recovery was found to be between 75% and 125%. As performance criteria for precision was used the RSD% which were lower than 2.0% for both methods.
Conclusions: The proposed liquid chromatography methods provide selective, linear and precise results for the quantification of meloxicam and tenoxicam from transdermal therapeutic systems. The presence of a single peak in the chromatograms of the analyzed transdermal patches with meloxicam or tenoxicam, certify the successful determination of the active pharmaceutical ingredient in the prepared patches.
The early repolarization ECG pattern – an update
Early repolarization pattern (ERP), a form of J-wave syndromes, was considered long time a benign ECG phenomenon. However, recent data confirmed that certain phenotypes of ERP are related to an increased risk of sudden cardiac death (idiopathic ventricular fibrillation). Our paper gives a short and practical update regarding the main issues related to ERP: epidemiological data, molecular and electrophysiological background, clinical significance and risk stratification. At the end, the future directions of research and clinical management related to ERP are presented.