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Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances. For more information click here. For more information click here.

Narcolepsy is a neurological disease characterized by chronic, excessive, daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis. Type 1 narcolepsy (narcolepsy with cataplexy) has been linked to low levels of a specific neurotransmitter called hypocretin (orexin), which is responsible for regulating sleep, appetite and body temperature. In people with narcolepsy the number of hypocretin-producing neurons is significantly reduced, and in some individuals the missing neurons reach 80-90%. The main clinical manifestations are excessive daytime sleepiness and disturbed sleep during the REM phase. Sleep paralysis, cataplexy, and hypnagogic hallucinations are also manifestations of narcolepsy.In addition to medical treatment, nutrition is an important part. In order, to prevent obesity in patients with narcolepsy, it is necessary to establish a balanced diet, physical activity and sleep, fully consistent with their condition. Orexin secretion could be increased by higher intake of protein, fiber, omega-3 fatty acids, lactate, fructose, fermented foods and physical activity. Orexin secretion is reduced by sugar intake. Recommended micronutrients for narcolepsy control are calcium, magnesium, choline, omega-3 fatty acids, B vitamins, vitamin C. In addition to the type of food consumed, eating habits also have an impact. Skipping breakfast and irregular eating patterns are also associated with poor sleep quality. Treatment should be completed by an adequate lifestyle and diet, including a balanced intake of macro- and micronutrients, physical activity and quality sleep. Read the whole article here.

Aim: To assess the pharmacists’ role in the timely identification of actual and potential drug-related problems (DRPs) in the course of drug dispense, in optimizing therapy and in monitoring the acromegaly patients’ condition.

Material and methods: A review of the scientific literature has been performed. A review and analysis of the summary of product characteristics of medicinal products used in patients with acromegaly, the pharmacotherapeutic guidelines and guidelines for the inclusion of the pharmacist in the overall care for acromegaly patients were performed. The review resulting in proposing key steps and an algorithm for integration of community pharmacists into care for patients with acromegaly.

Results: The pharmacist has a crucial role in timely identification of actual and potential DRPs. Possible DRPs among acromegaly patients are adverse drug reaction (ADRs), drug-drug interactions, non-adherence to therapy, wrong application and storage of medicines. Problems related to injection application could be minimized through effective patients’ education about injection technique and regimen. The main ADRs specific for somatostatin analogues (SSA) are digestive problems, hyperglycemia, diabetes, increased levels of liver enzymes. Beta-blockers and antidiabetic medications dose correction is needed due to possible interactions with SSA. The main factors for non-adherence to therapy on which the pharmacist should focus on are adverse effects, lack of symptoms, financial problems, lack of motivation, inappropriate administration and inconvenient route of administration.

Conclusions: The choice of the most appropriate therapy for every patient, the multidisciplinary approach, the active participation of the pharmacist in the identification and prevention of DRPs and long-term monitoring are the keys for achieving the therapeutic goals in acromegaly patients. Read the whole article here.