The Association of Different Genetic Variants with the Development of Hypoxic-Ischemic Encephalopathy.

The aim of this study is to investigate the frequency of six tag SNPs (single nucleotide polymorphisms) within specific genes (F2, F5, F7, MTHFR, NOS2A, PAI 2-1, PAI 2-2, and PAI 3-3): F2 (rs1799963), F5 (rs6025), F7 (rs6046), NOS 2 (rs1137933), PAI 2 (SERPINB2) (rs6103), MTHFR (rs1801133). The study also investigates their association with the development and severity of HIE. The genes F2, F5, and F7 code for proteins involved in blood clotting. MTHFR is a gene that plays a significant role in processing amino acids, the fundamental building blocks of proteins. NOS2A, PAI 2-1, PAI 2-2, and PAI 3-3 are genes involved in the regulation of various physiological processes, such as the relaxation of smooth muscle, regulation of central blood pressure, vasodilatation, and synaptic plasticity. Changes in these genes may be associated with brain injury. This retrospective study included 279 participants, of which 132 participants had Hypoxic-Ischemic Encephalopathy (HIE) and 147 subjects were in the control group. Our study found that certain genetic variants in the rs61103 and rs1137933 polymorphisms were associated with hypoxic-ischemic encephalopathy (HIE) and the findings of the magnetic resonance imaging. There was a correlation between Apgar scores and the degree of damage according to the ultrasound findings. These results highlight the complex relationship between genetic factors, clinical parameters, and the severity of HIE.

Chronic Endothelial Dysfunction after COVID-19 Infection Shown by Transcranial Color-Coded Doppler: A Cross-Sectional Study.

In addition to respiratory symptoms, COVID-19 often causes damage to many other organs, especially in severe forms of the disease. Long-term consequences after COVID-19 are common and often have neurological symptoms. Cerebral vasoreactivity may be impaired after acute COVID-19 and in our study, we wanted to show how constant and reversible are the changes in brain vasoreactivity after infection. This cross-sectional observational study included 49 patients diagnosed with COVID-19 and mild neurological symptoms 300 days after the onset of the disease. We used a transcranial color-coded Doppler (TCCD) and a breath-holding test (BHT) to examine cerebral vasoreactivity and brain endothelial function. We analyzed the parameters of the flow rate through the middle cerebral artery (MCA): peak systolic velocity (PSV), end-diastolic velocity (EDV), mean velocity (MV), resistance index (RI) and pulsatility index (PI), and we calculated the breath-holding index (BHI). Subjects after COVID-19 infection had lower measured velocity parameters through MCA at rest period and after BHT, lower relative increases of flow velocities after BHT, and lower BHI. We showed that subjects, 300 days after COVID-19, still have impaired cerebral vasoreactivity measured by TCCD and they have chronic endothelial dysfunction.

Acute Arterial Thrombosis of Lower Extremities in COVID-19 Patients.

Clinical signs and symptoms of COVID-19 varied from asymptomatic forms to severe, life-threatening conditions that required treatment in intensive care units. These severe forms of illness are connected with a hypercoagulable state due to excessive inflammation, hypoxia, immobilisation, and altered angiotensin-converting enzyme 2 (ACE-2). In total, 17 COVID-19 positive patients were diagnosed with peripheral arterial thrombosis (AT), 13 of them had COVID-19 pneumonia. Laboratory findings in patients with X-ray confirmed pneumonia showed a four times higher neutrophil-to-lymphocyte ratio (NLR), C-reactive protein (CRP) and three times higher lactate dehydrogenase level (LDH) than patients without confirmed pneumonia. Patients with pneumonia had significantly more bilateral occlusions of the lower extremities and a significantly higher percentage with complete occlusion of the arteries than patients without pneumonia. The rate of limb loss was 35.3%. They were all from the group with COVID-19 pneumonia. Ten out of thirteen patients with pneumonia died due to acute respiratory distress syndrome (ARDS). All patients without pneumonia were discharged from the hospital. The aim of this retrospective study was to report the incidence of arterial thrombosis of lower extremities and their complications in the acute phase of the infection among COVID-19 patients admitted to the hospital for treatment.

Vestibular neuronitis in a vestibular schwannoma patient.

This is a unique presentation of an acute vestibular syndrome (AVS) caused by vestibular neuronitis (VN) of a vestibular nerve (CNVIII) already affected by vestibular schwannoma (VS). A 48-year-old patient, formerly diagnosed with an intracanalicular VS, presented with AVS. The patient underwent clinical and neurotological examination including video Head Impulse Test and a 4-hour delayed-enhanced 3D-FLAIR MRI using intravenous gadolinium. Clinical and neurotological findings were consistent with VN of the CNVIII formerly diagnosed with VS. A 4-hour delayed-enhanced 3D-FLAIR MRI showed significant enhancement of the labyrinth also indicating VN of the same nerve affected by VS. Pragmatic corticosteroid therapy and vestibular exercises were applied resulting in satisfactory recovery of the patient. As vestibular symptoms are common in VS patients, investigating another cause of dizziness and vertigo in VS patients can be marginalized. Nevertheless, VS presenting as AVS is very unusual. VN should not be overlooked as a possible cause of acute vertigo in a patient previously diagnosed with VS.

SARS-CoV-2 Infection Causes Relapse of Kleine-Levin Syndrome: Case Report and Review of Literature.

Recurrent episodes of hypersomnia, hypersexuality, compulsive eating, behavioral and cognitive disturbances, are the basic clinical features of Kleine-Levin syndrome (KLS). Our case report describes a patient who was diagnosed with KLS at the age of 20. With appropriate therapy, the disease had a satisfactory course until patient had a moderate form of SARS-CoV-2 infection, which led to a significant exacerbation of all symptoms. SARS-CoV-2 virus can cause almost any neurological disease, and relapse of KLS is another evidence of neurotropicity of the virus.

Personalized Approach to Patient with MRI Brain Changes after SARS-CoV-2 Infection.

From the beginning of SARS-CoV-2 virus pandemic, it was clear that respiratory symptoms are often accompanied with neurological symptoms. Neurological manifestations can occur even after mild forms of respiratory disease, and neurological symptoms are very often associated with worsening of the patient's condition. The aim of this study was to show abnormal brain neuroimaging findings evaluated by MRI in patients after SARS-CoV-2 infection and neurological symptoms. Methods: Sixteen patients after mild forms of SARS-CoV-2 infection, twenty-three patients after moderate forms of SARS-CoV-2 infection as well as sixteen healthy participants in the control group underwent MRI 3T brain scan. All subjects in the SARS-CoV-2 group had small, punctuate, strategically located and newly formed hyperintense lesions on T2 and FLAIR sequences. New lesions were formed more often in the bilateral frontal subcortical and bilateral periventricular, correlated with the severity of the clinical picture. These changes indicate an example of silent cerebrovascular disease related to SARS-CoV-2 and once again emphasize the neurotropism of the virus.

Cerebral Vasoreactivity Evaluated by Transcranial Color Doppler and Breath-Holding Test in Patients after SARS-CoV-2 Infection.

From the beginning of the SARS-CoV-2 virus pandemic, it was clear that the virus is highly neurotrophic. Neurological manifestations can range from nonspecific symptoms such as dizziness, headaches and olfactory disturbances to severe forms of neurological dysfunction. Some neurological complication can occur even after mild forms of respiratory disease. This study's aims were to assess cerebrovascular reactivity in patients with nonspecific neurological symptoms after SARS-CoV-2 infection. A total of 25 patients, aged 33-62 years, who had nonspecific neurological symptoms after SARS-CoV-2 infection, as well as 25 healthy participants in the control group, were assessed for cerebrovascular reactivity according to transcranial color Doppler (TCCD) which we combined with a breath-holding test (BHT). In subjects after SARS-CoV-2 infection, there were statistically significantly lower flow velocities through the middle cerebral artery at rest period, lower maximum velocities at the end of the breath-holding period and lower breath holding index (BHI) in relation to the control group. Changes in cerebral artery flow rate velocities indicate poor cerebral vasoreactivity in the group after SARS-CoV-2 infection in regard to the control group and suggest vascular endothelial damage by the SARS-CoV-2 virus.

A Case of Kleine-Levin Syndrome: Diagnostic and Therapeutic Challenge.

Kleine-Levin syndrome (KLS) is a rare sleep disorder mainly affecting teenage boys in which the main features are intermittent hypersomnolence, behavioral and cognitive disturbances, hyperphagia, and in some cases hyper sexuality. Etiology is unknown, and there is no specific clinical or imaging test for this syndrome even though the illness has well-defined clinical features. Also, there is no effective treatment for KLS. KLS is self-limited, so the prognosis for these patients is not so bad. This study presents our case report and comprehensive workout that led to diagnosis which is primarily clinical. Our patient is a 20-year-old man referred to our clinic because of sleeping problems. At the age of 14, he presented with complaints of the excessive duration of sleep, increased appetite, excessive daytime sleepiness, loss of interest in social activities during attendance of high school and hallucinations. The excessive diagnostic procedure does not find pathological. Kleine-Levin syndrome (KLS) is a rare sleep disorder of unknown etiology which diagnosis is clinical and diagnostic workup is mainly to exclude other similar conditions. There is no specific therapy, but the disease is self-limited and with good prognosis.

Warfarin-Induced Skin Necrosis in Patients With Low Protein C Levels.

Warfarin-induced skin necrosis (WISN) is a rare complication of anticoagulant therapy associated with a high incidence of  morbidity and mortality requiring immediate drug cessation. At particular risk are those with various thrombophilic abnormalities, especially when warfarinisation is undertaken rapidly with large loading doses of warfarin. Cutaneous findings include petechiae that progress to ecchymosis and hemorrhagic bullae. With the increasing number of patients anticoagulated as out-patients for thromboprophylaxis, we are concerned that the incidence of skin necrosis may increase. We present a case of WISN with low protein C level. He was a 50-year-old male who came to our department because of acute infarction in irrigation area of the superior cerebellar artery. He had intermittent atrial fibrillation and was started on anticoagulant therapy.  After few day of therapy, he developed skin necrosis, and his level of protein C was low. Warfarin-induced skin necrosis is a rare but serious complication that can be prevented by routine screening for protein C, protein S or antithrombin deficiencies or for the presence of antiphospholipid antibodies before beginning warfarin therapy.

Internal Watershed Infarction as an Imaging and Clinical Challenge: a Case Report.

We presented the case of a patient with internal watershed infarction with a nonspecific clinical presentation including hemiplegia, hemisensory deficit, and speech disturbance. Neuroimaging and ultrasound diagnostic procedure are important tools for diagnosis of these rare ischemic events that count for about 6% of all strokes.  Specific therapy is mandatory for the diagnosis of watershed infarction and different from the therapeutical measures than can be taken for embolic and atherothrombotic strokes. Our patient was a 69-year-old, right-handed Caucasian woman who presented to our facility with acute right side weakness and speech disturbance. He had hypothyroidism, permanent atrial fibrillation, diabetes mellitus and she was hypotensive. She reported dizziness few days before the accident. Imaging studies revealed internal watershed infarction. Therapeutic procedures were taken to restore low cerebral blood flow. Internal watershed infarction is rare (less than 10% of all strokes) but well recognized a clinical feature of stroke. Specific pathophysiology generally is connected with hypoperfusion and hemodynamic mechanisms. Specific therapy is mandatory for these conditions.