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Adina Stoian, Anca Bacârea, Anca Moţăţăianu, Mircea Stoian, Florina Gliga, Vladimir Bacârea, Carmen Duicu and Claudia Bănescu

Abstract

The aim of this work was to study for the first time in Romania Insertion/Deletion (I/D) polymorphism of the Vascular Endothelial Growth Factor (VEGF) gene in a group of patients with established type 2 diabetes mellitus (DM) and diabetic peripheral neuropathy (DPN) compared with a control group.

This was a case-control study consisting of a group of 84 patients with type 2 DM and DPN, diagnosed by clinical neurological examination and electrophysiological nerve conduction studies and a control group of 90 healthy volunteers. For deoxyribonucleic acid (DNA) isolation, a DNA purification kit from Zymo Research was used. In vitro amplification of DNA sequences was achieved by polymerase chain reaction (PCR). Selective in vitro amplification of a DNA fragment of known sequence is based on the principle of extension of a primer (“primer and PCR amplicon”). DNA fragments were separated by gel electrophoresis. For proper viewing and interpreting of agarose gels Vilber Lourmat system was used. D allele frequency of VEGF was significantly higher in patients with diabetic peripheral neuropathy (53.57%) compared with controls (25%), p=0.0001.

There is a positive association between I/D polymorphism of VEGF gene and the presence of diabetic peripheral polyneuropathy. Our study suggests that D allele of VEGF gene is a risk factor for the occurrence of DPN.

Open access

Rodica Bălaşa, Smaranda Maier, Anca Moţăţăianu, Zoltan Bajko, Otilia Moldovan and Erzsébet Benedek

Abstract

Acute intermittent porphyria (AIP) is a metabolic disease with an autosomal dominant inheritance, with porphobilinogen (PBG) deaminase as the deficient enzyme in heme biosynthetic pathway at cytosolic subcellular locations. This diagnosis must be evoked in all adults with unexplained symptoms, but some clinical features are suggestive: women with reproductive age; abdominal pain; muscle weakness; sever and prolonged hyponatremia; dark or reddish urine.

The authors present a fatal case of a 39-years old female who presented acute abdominal pain followed by severe peripheral nervous system lesions with tetraplegia. Urine analysis showed enormously increased levels of porphirins, PBG and Δ aminolevulinic acid. The diagnosis of AIP was established and even if the correct treatment (Hemine, glucose) was administrated, the patient died after 3 weeks from onset due to a septic shock.

The authors discuss the laboratory abnormalities that are found in AIP and also the pathogenesis of the acute attack of AIP as well as the mechanism of severe nervous system damage that is less understood.

In conclusion, laboratory testing must be performed early and if a diagnose of AIP is not made promptly serious consequences may follow for the patient.

Open access

Zoltán Bajkó, Smaranda Maier, Silvia Rusu and Anca Moțățăianu

Abstract

A mobile thrombus in the carotid arteries is a very rare ultrasonographic finding and is usually diagnosed after a neurological emergency, such as a transient ischemic attack or cerebral infarction. We present the case of a 54-year-old man with vascular risk factors (a heavy smoker, untreated hypertension) who was admitted to the emergency unit with right sided hemiparesis and aphasia. A cerebral CT scan showed a left middle cerebral artery territory infarction. The duplex ultrasound examination revealed mild atherosclerotic changes in the right common and internal carotid arteries, right-sided complete subclavian steal phenomenon and a complicated hypoechoic atherosclerotic plaque in the left common carotid artery with a large mobile thrombus. Due to the high embolization risk, the patient was hospitalised and prescribed Aspirin together with low molecular weight Heparin. We recorded an improvement in the patient’s neurological status and the control duplex scan revealed disappearance of the thrombus. The presence of floating thrombus in a patient with clinical and imagistic evidence of stroke is a major therapheutic challenge for the neurologist. The treatment strategies are not standardized and must be individualized, however in our case parenteral anticoagulation proved to be successful.

Open access

Zoltán Bajkó, Smaranda Maier, Anca Moțățăianu, Adina Stoian, Laura Bărcuțean and Rodica Bălașa

Abstract

A free-floating carotid artery thrombus is a very rare ultrasonographical finding in patients with acute ischemic cerebrovascular events. One of the main causes of this presentation is represented by the hypercoagulability status of the patients. We report the case of a young male patient who presented with several transient ischaemic attacks secondary to a mobile thrombus in the left carotid sinus. Two hematological abnormalities, essential thrombocytosis and methylene tetrahydrofolate reductase mutation were found to be related to the thrombus formation. The role of the latter in the pathogenesis of ischemic stroke is not well documented in the literature. Following antiplatelet and anticoagulant medication, there was a fast dissolution of the thrombus, followed by a favorable clinical outcome. Neurologists should be aware that young patients with stroke require extensive imagistic and laboratory screening for an accurate etiological diagnosis.

Open access

Anca Moţăţăianu, Smaranda Maier, Anita Gothard, Zoltán Bajkó and Rodica Bălaşa

Abstract

Introduction Nonbacterial thrombotic endocarditis (NBTE), also known as marantic endocarditis, is a rare, underdiagnosed complication of cancer, in the context of a hypercoagulable state. NBTE represents a serious complication due to the high risk of embolisation from the sterile cardiac vegetations. If these are not properly diagnosed and treated, infarctions in multiple arterial territories may occur. Case presentation The case of a 47-year-old male is described. The patient was diagnosed with a gastric adenocarcinoma, in which the first clinical manifestation was NBTE. Subsequently, a hypercoagulability syndrome was associated with multi-organ infarctions, including stroke and eventually resulted in a fatal outcome. Conclusions NBTE must be considered in patients with multiple arterial infarcts with no cardiovascular risk factors, in the absence of an infectious syndrome and negative blood cultures. Cancer screening must be performed to detect the cause of the prothrombotic state.

Open access

Bălașa Rodica, Z. Bajko, Smaranda Maier, S. Voidăzan and Anca Moțățăianu

Abstract

Objective: The aim of this study was to evaluate the impact of age, diabetes duration, glycaemic control, existence of cardiac autonomic neuropathy (CAN), retinopathy and of macroangiopathy on the peripheral nerve function in patients with type 2 diabetes.

Methods: One hundred forty-nine type 2 diabetes mellitus patients were assessed with peripheral motor and sensory nerve conduction tests and cardiovascular reflex tests, as well as being evaluated for retinopathy, common carotid artery intimal-media-thickness (IMT) and anklebrachial index (ABI).

Results: The duration of diabetes has the strongest effect in the reduction of the amplitude of motor response in the peroneal nerve and of the sensory amplitude in the sural nerve. The strongest correlations were found between glycaemic control and decreasing motor amplitude in the median nerve and sensory amplitude in the sural nerve, respectively. The motor and sensory nerve action potential amplitudes were significantly affected in the group of patients with CAN. According to multivariate logistic regression analysis, duration of diabetes and presence of CAN were the most important factors that influenced the motor and sensory nerve function.

Conclusion: The presence of CAN together with diabetes duration and poor glycaemic control were associated with impaired peripheral nerve function, while macroangiopathy does not seem to be associated with the impairment of these electrophysiological parameters.

Open access

Smaranda Maier, Zoltan Bajko, Anca Moţăţăianu, Adina Stoian, Bianca Şchiopu and Rodica Bălaşa

Abstract

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.

Open access

Adina Stoian, Lavinia Horling, Alexandru Schiopu, Laura Iulia Barcutean, Mircea Stoian, George Andrei Crauciuc and Anca Motataianu

Open access

Maier Smaranda, Stirbu Nicoleta, Bajko Zoltan, Moţăţăianu Anca, Ţilea Brânduşa, Alexandrescu Adrian and Bălaşa Rodica

Abstract

The clinical manifestations of Lyme disease are protean. The meningoradiculitis is a common and well-recognized complication of neuroborreliosis but can be easily misdiagnosed without a high degree of clinical suspicion, mainly if the tick bite is not present in the medical history. We report two cases of Lyme meningoradiculitis with excellent outcome after appropriate antibiotic therapy. In an endemic area in case of neurological manifestations suggestive for neuroborreliosis the serological testing for B. burgdorferi in serum and cerebrospinal fluid is imperative for the correct diagnosis.

Open access

Zoltán Bajkó, Rodica Bălaşa, Anca Moţăţăianu, Laura Bărcuţean, Adina Stoian, Nicoleta Stirbu and Smaranda Maier

Abstract

Traumatic bilateral dissection of the carotid arteries is a rare condition with potentially life-threatening complications. The case of a 57-year-old male patient with acute onset left sided hemiparesis, twelve hours after a blunt head injury, caused by a horse kick, is reported. A cerebral CT scan revealed right middle cerebral artery (MCA) territory infarction. Based on Duplex ultrasound and Angio CT scan findings, a diagnosis of bilateral ICA dissection was established. Despite antithrombotic treatment, the patient presented with a progressive worsening of his neurological status. The control CT scan evidenced malignant right MCA territory infarction that required decompressive craniotomy. The patient was discharged with significant neurological deficits. Together with this case, the aetiologies, clinical manifestations, diagnostic and therapeutical options and outcome of carotid artery dissection are discussed.