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The objective of the prospective study is to examine the laryngeal changes by laryngeal videostroboscopy and electromyography (EMG) regarding new-onset dysphonia in asthmatic patients taking inhaled corticosteroids (ICS). Laryngeal changes and electrophysiological status of the laryngeal muscles were evaluated by these methods in 12 patients both at the time of presentation of dysphonia and after cessation of therapy. Laryngeal changes of our patients were mucosal edema, erythema, thickening, adduction deficit, nodule and irregularity in videostroboscopy. Significant correlations were found between laryngeal pathology and dosage and duration of ICS therapy. We detected myopathy by EMG in most of the patients. Also, EMG revealed that cricothyroid muscle was much more affected than thyroarytenoid muscle. In conclusion, we consider that steroid myopathy or mucosal inflammatory theory alone is not sufficient to explain the etiopathogenesis of dysphonia in asthmatic patients taking ICS. The laryngeal mucosal changes were detected by laryngeal videostroboscopic examination in some asthmatic patients, with dysphonia using ICS, and/or laryngeal myopathy was found by laryngeal EMG in some of them in this study. Thus, various factors may have role simultaneously in the occurrence of dysphonia.

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with ~70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well‐established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome‐wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease‐associated candidates, points to a significant enrichment for cell cycle‐ and division‐related genes. Within this network, literature text‐mining highlights DECR1, ATL1, HDAC2, GEMIN4, and HNRNPA3 as important genes. Finally, information on ALS‐related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (http://www.gendal.org).

ÖZETEkstremite distonisi (ED) izole fokal bir semptom veya jeneralize distoninin bir parças› olabilir, maluliyet yarat›c› bir durumdur. ‹diopatik veya özellikle kontrlateral bazal ganglionlar› etkileyen durumlarda di¤er bir hastal›¤a sekonder olabilir. Yayg›n veya ciddi ED genellikle oral ilaçlar ile tedavi edilir. Stereotaksik cerrahi düflünülebilir. ‹diopatik ED veya fokal ekstremite semptomlar› ise botulinum toksini (BoNT) enjeksiyonuna iyi yan›t verir. BoNT tip A enjeksiyonlar› ED'li hastalar›n %80'inin üzerinde a¤r› ve spazmlar› azalt›r. Günlük yaflam aktivitesinde ve motor performansta %50-66 oran›nda fonksiyonel düzelme sa¤lar. Jeneralize distonili hastalar›n %80'inin üzerinde malul edici postürde azalma, deri laserasyonlar›nda ve a¤r›da azalma gözlenir. Post operatif dönemde spazmlar› önledi¤inden iyileflmenin h›zlanmas› amac› ile k›sa süreli olarak da kullan›labilir. Gövde distonileri s›kl›kla segmental veya jeneralize distonilerde görülür, izole formlar› nadirdir. Nörolepti¤e ba¤l› aksiyal etkilenme s›k görülür. S›kl›kla ciddi a¤r› ve özürlülük ile birliktedir ve nadiren farmakolojik tedaviye yan›t verir. Di¤er fokal distonilerde oldu¤u gibi gövde distonilerinde de tercih edilen tedavi BoNT'tur. Dikkatli hedef kas seçimi ve uygun dozlar uyguland›¤›nda genellikle klinik tabloda belirgin düzelme sa¤lar. BoNT tedavisi baflar›s›z olursa ilk alternatif, ilaç tedavisidir, ilave olarak fizyoterapi hastan›n semptomlar›n› azaltmaya yard›mc› olur, sürekli intratekal baklofen uygulamas› bu hastalarda faydal›d›r, epidural spinal elektrostimülasyonun etkisi belirsizdir, cerrahi son çare olarak düflünülmelidir. (Nöropsikiyatri Arflivi 2010; 47 Özel Say›: 19-26) Anahtar kelimeler: Ekstremite distonileri, gövde distonileri, botulinum toksini ABSTRACT Extremity dystonia (ED) is a disabling condition that may represent an isolated focal symptom or may be part of generalized dystonia. It may develop secondary to any process affecting the contralateral basal ganglia or may be idiopathic. Diffuse or severe dystonia generally improves by administration of various medications and only in rare cases, stereotaxic surgery may be needed. Idiopathic forms or focal symptoms frequently respond to botulinum toxin (BoNT) injections. BoNT type A injection decreases pain and spasms in more than 80% of cases and results in 50-66% functional improvement in daily living activities and motor performance. Furthermore, BoNT injection also provides improvement in some symptoms of generalized dystonia and relieves disabling posture, skin lacerations and pain in more than 80% of patients. BoNT may also be used to accelerate recovery in the postoperative period for a short time since it prevents the spasms. Truncal dystonia frequently accompanies segmental or generalized dystonia and it rarely presents as an isolated form. Axial involvement is mostly seen in neuroleptic use. This form of truncal dystonia is often severely painful and disabling and rarely responds to oral medications. BoNT is the treatment of choice in truncal dystonia, similar ...