Dravet Syndrome is a severe, drug-resistant, and rare epileptiform disorder that is typically presented in the first year of life in an otherwise healthy child. It is characterized by prolonged seizures that are often resistant to current anti-epileptic drug regimens, which made them poorly controlled, and almost 50% of patients experience at least four tonic-clonic seizures per month. There are three new medicines: stiripentol, cannabidiol, and fenfluramine, with documented efficacy and safety as adjunctive therapies in pharmacoresistant Dravet syndrome treatment. This study aimed to assess the efficacy and safety of fenfluramine in the treatment of Dravet syndrome. Our study material consisted of publications, which were found in PubMed, Google Scholar, and Embase databases. In order to find the proper publications, the search has been conducted with the use of a combination of keywords like: “fenfluramine”, “Dravet syndrome”, “epilepsy treatment”, “Dravet syndrome pediatric patients”. The first step was to find proper publications from the last 10 years. The second step was to carry out an overview of the found publications. Results of mentioned studies proved that in Dravet syndrome, fenfluramine provided a significantly greater reduction in convulsive seizure frequency compared with placebo. No patient developed valvular heart disease or pulmonary arterial hypertension, the side effects that occurred during its use were mild and the drug was generally well-tolerated. The bioequivalence and tolerability of single oral doses of fenfluramine hydrochloride oral solution in the fed and fasted states support drug administration without regard to meals. Fenfluramine may represent a new important treatment option for Dravet syndrome.
Eslicarbazepine acetate (Zebinix®, ESL), a voltage-gated sodium channel blocker, is a once-daily, orally administered anti-seizure medication available in the EU for use as monotherapy in adults with newly diagnosed partial-onset seizures and as adjunctive therapy in adults, adolescents, and children aged > 6 years with partial-onset seizures. It was approved by the European Medicines Agency and launched onto the European market in 2009. This study aimed to assess the efficacy and safety of ESL in the treatment of focal-onset seizures. Our study material consisted of publications, which were found in PubMed, Google Scholar, and Embase databases. In order to find the proper publications, the search has been conducted with the use of a combination of keywords like: “eslicarbazepine acetate", "focal-onset seizures treatment", "epilepsy treatment", "eslicarbazepine acetate pharmacokinetics”. The first step was to find proper publications from the last 10 years. The second step was to carry out an overview of the found publications. Results of mentioned studies proved that for adults with medically uncontrolled partial-onset seizures, ESL monotherapy is well tolerated and effective over the long term, including the patients who transitioned from CBZ-CR monotherapy. Adjunctive ESL demonstrated a sustained therapeutic effect and was well-tolerated, safe, and efficacious during the treatment of adults with partial-onset seizures. Both 800 mg and 1200 mg once-daily doses were well tolerated. Moreover, significant improvements in depressive symptoms and quality of life domains were observed under long-term treatment with ESL.
Epilepsy is one of the most common diseases of the nervous system, characterized by the occurrence of recurrent and unprovoked seizures, which are an expression of abnormal brain activity associated with sudden and excessive bioelectric discharges. Partial seizures come from specific areas of the brain. They can run with motor, autonomic, sensory, and psychological symptoms. Currently, new active substances are sought that can be used in the treatment of drug-resistant partial seizures. The aim of the study is to evaluate the safety and efficacy of cenobamate in the treatment of patients with uncontrolled, partial seizures. Our study material consisted of publications, which were found in PubMed, Google Scholar, and Embase databases. In order to find the proper publications, the search has been conducted with the use of a combination of keywords like: “cenobamate”, “focal seizures”, “cenobamate in epilepsy”. The first step was to find proper publications from the last 10 years. The second step was to carry out an overview of the found publications. Studies have shown that treatment with cenobamate significantly improved seizure control in adults with uncontrolled focal seizures. Long-term use of cenobamate is safe and well-tolerated by patients. Most adverse events are mild or moderate.
Introduction: Acromegaly is a chronic, rare disorder resulting from growth hormone (GH) hypersecretion, usually caused by a pituitary adenoma. GH stimulates synthesis of insulin-like growth factor 1 (IGF-1), whom assay should be used as a screening test whenever acromegaly is suspected. Patients with acromegaly normally take from 5 to 10 years to receive a correct diagnosis, leading to complications such as cardiovascuar, respiratory, and endocrine problems that are responsible for an increase mortality. Late diagnosis of the disease also impact the effectiveness of surgical, pharmacological and radiotherapy treatment. Case report: A 33-year-old acromegalic man with pituitary macroadenoma resistant to therapy of somastatin analogue (octreotide, lanreotide) and dopamine agonist (cabergoline). The patient underwent transsphenoidal adenomectomy, after wich high level of GH and IGF-1 were still measured. Due to the lack of the effect of the current treatment, the patient was qualified for pegvisomant therapy, as a result of which biochemical control was achieved without adverse events and with a good compliance of treatment. Conclusions: Treatment with pegvisomant is now an important therapeutic strategy to achieve full disease control in acromegalic patients resistant or poorly responders to first generation somatostatin receptor ligands and in patients who do not respond adequately to selective excision of pituitary adenoma and /or for whom surgery is not possible.
Introduction: Cushing's disease is a hypercortisolemic state caused by the excess secretion of corticotropin by the pituitary adenoma. Cushing's disease is diagnosed on the basis of clinical and laboratory signs of hypercortisolemia and the presence of an MRI pituitary adenoma. Pituitary surgery represents the first-line therapy, but it is non-curative in one third of patients, requiring additional treatments. Second-line treatments include pharmacotherapy, pituitary radiotherapy and bilateral adrenalectomy. Case report: A 57-year-old patient with clinical symptoms of hypercortisolemia was admitted to the Endocrinology Clinic due to dizziness and headache. Laboratory tests and MRI confirmed Cushing's disease caused by invasive pituitary macroadenoma. The tumor was not completely resected through the sphenoid sinus. Disease symptoms were remitted and hormone levels were stabilized. After 2 years, the underlying disease was relapsed. A second tumor removal operation was performed. The tumor was incompletely removed. The disease has progressed.. The patient was referred for stereotaxic CyberKnife radiotherapy. Conclusion: Cushing's disease should be diagnosed and treated in a specialized endocrinology center, and the success of treatment depends on a multidisciplinary team of physicians consisting of an endocrinologist, neurosurgeon and neuroradiologist.About 50% of untreated patients die within 5 years of the disease due to complications of hypercortisolemia. Surgical treatment is effective in the case of microadenomas, while in the case of macroadenomas, it may turn out to be ineffective when the tumor is highly invasive. If subsequent surgeries are unsuccessful, treatment with radiotherapy or pharmacotherapy should be given.
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