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.
There are rare reports of the occurrence of acute transverse myelitis and Guillain–Barré syndrome after various surgical procedures and general/epidural anaesthesia. The concomitant occurrence of these pathologies is very rare and is called Guillain–Barré and acute transverse myelitis overlap syndrome. In this article, we present the case of a second trimester pregnant patient who developed Guillain–Barré and acute transverse myelitis overlap syndrome.
We report the case of a 16-year-old female patient who underwent a therapeutic termination of pregnancy two weeks prior to the onset of the disease with gradual development of a motor deficit with walking and sensitivity disorders, fecal incontinence. The diagnosis was based on clinical exam, electroneurography and spinal magnetic resonance imaging. Endocrinopathies, infectious diseases, autoimmune and inflammatory diseases, neoplastic diseases and vitamin deficiencies were ruled out. Our patient attended five sessions of therapeutic plasma exchange, followed by steroid treatment, intravenous immunoglobulin with minimum recovery of the motor deficit in the upper limbs, but without significant evolution of the motor deficit in the lower limbs. The patient was discharged on maintenance corticotherapy and immunosuppressive treatment with azathioprine.
We report a very rare association between Guillain–Barré syndrome and acute transverse myelitis triggered by a surgical intervention with general anaesthesia. The overlap of Guillain–Barré syndrome and acute transverse myelitis makes the prognosis for recovery worse, and further studies are needed to establish the first-line therapy in these cases.
Cardiovascular autonomic neuropathy is the most frequent clinical form of autonomous diabetic neuropathy and appears secondary to cardiac autonomous fibre involvement, actively involved in cardiac rhythm impairment. Type 2 diabetes mellitus patients can present cardiac autonomic neuropathy early in the disease. Autonomous nerve function in DM patients should be assessed as early as the diagnosis is set in order to establish the optimal therapeutic strategy. The most frequent cardio-vagal test used is heart rate variability. An abnormal heart rate variability in the presence of orthostatic arterial hypotension indicates a severe cardiac autonomic neuropathy diagnosis. The development of cardiac autonomic neuropathy is subjected to glycaemic control, duration of the disease and associated risk factors. The glycaemic control is extremely important, especially early in the disease. Therefore, a poor glycaemic control carries unfavourable long-term effects, despite an ulterior optimal control, a phenomenon named “hyperglycaemic memory”. In type 2 diabetes mellitus patients, the association of cardiac autonomic neuropathy with intensive glycaemic control increases the mortality rate, due to the fact, that, secondary to autonomous impairment, the patients do not present the typical symptoms associated with hypoglycaemia. Stratifying the cardiac autonomic neuropathy aids the clinician in assessing the morbidity and mortality risk of diabetes mellitus patients, because it is an independent risk factor for mortality, associated with silent myocardial infarctions and the risk of sudden death.
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.
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.
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.
The processes of demyelination and neurodegeneration in the central nervous system (CNS) of multiple sclerosis (MS) patients and experimental autoimmune encephalomyelitis (EAE) are secondary to numerous pathophysiological mechanisms. One of the main cellular players is the Th17 lymphocyte. One of the major functions described for Th17 cells is the upregulation of pro-inflammatory cytokines, such as IL-17 at the level of peripheral and CNS inflammation. This review will focus on the newly described and unexpected, direct role played by the Th17 cells in the CNS of MS patients and EAE models. Th17 and their main cytokine, IL-17, are actively involved in the onset and maintenance of the immune cascade in the CNS compartment as Th17 were found to achieve brain-homing potential. Direct interaction of myelin oligodendrocyte glycoprotein - specific Th17 with the neuronal cells firstly induces demyelination and secondly, extensive axonal damage. The Th17 cells promote an inflammatory B cell response beyond the BBB through the presence of infiltrating Th follicles. Due to their role in preventing remyelination and direct neurotoxic effect, Th17 cells might stand for an important connection between neuroinflammation and neurodegeneration in a devastating disease like MS. The Th17 cell populations have different mechanisms of provoking an autoimmune attack not only in the periphery but also in the CNS of MS patients.
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.
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.
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.