Demographic, Clinical and Electrophysiological Characteristics of the Hereditary Neuropathy Patients in Sakarya

Amaç Herediter nöropatiler; periferik sinir sisteminde, demyelinizasyon ve/veya akson kaybına yol açan, ilerleyici bir hastalık grubudur. Herediter nöropatiler genellikle aileselolmakla birlikte, sporadik olgular da nadiren görülebilir. Çalışmamızda Sakarya ilindeki herediter nöropatili olguların, demografik, klinik ve elektrofizyolojik özellikleriaraştırılmıştır. ( Sakarya Tıp Dergisi 2019, 9(1):120-124 )Gereç veYöntemBu çalışmaya, merkezimize 2011-2016 yılları arasında başvuran, herediter sensorimotor nöropati (HSMN) tanısı alan 26 hasta dahil edildi. Bu hastalara ait veriler; yaş,cinsiyet, hastalık başlangıç yaşı, başvuru yakınmaları, akraba evliliği, klinik ve elektrofizyolojik bulgular, ailesel ve genetik özellikler açısından retrospektif olarak incelendi.Bulgular Kliniğimizde takip edilen 26 hastanın 13’ü (%50) erkekti. Yaş ortalaması 41±12,29 iken hastalık bulgularının başlangıç yaş ortalaması 23,26±13,7 idi. Elektrofizyolojikincelemeler, 9 hastada aksonal, 12 hastada demiyelinizan ve 5 hastada mikst formda bir hasarı göstermekteydi. Genetik incelemelerde, 5 hastada heterezigot PMP 22delesyon ve 2 hastada PMP 22 duplikasyonu tespit edildi. Böylece, 5 hasta Charcot Marie Tooth (CMT)-1A, 2 hasta herediter basınca duyarlı polinöropati (HNPP) tanısıalırken, diğer 19 hasta ise tiplendirilemeyen herediter nöropati olarak değerlendirildi.Sonuç Son yıllarda moleküler biyoloji alanındaki yeni gelişmeler şimdiye kadar pek çok sınıflandırılamamış herediter nöropati tipinin tanınmasına yönelik önemli kazanımlarsağlamıştır. Çalışmamızda, Türkiye’de genotip değerlendirmesi yapılabilen demiyelinizan tip olguların Sakarya ilindeki fenotipik özellikleri değerlendirilmiş ve literatürle kıyaslanmıştır.Objective Hereditary neuropathies are a group of progressive disease that leads to demyelination and / or loss of axons in the peripheral nervous system. Although hereditary neuropathies frequently occurs in familial form, sporadic cases are rarely seen. In our study, demographic, clinical, and electrophysiological characteristics of hereditary neuropathy patients in Sakarya province were investigated. ( Sakarya Med J 2019, 9(1):120-124 ) Materials and Methods Totally 26 registered patients who were diagnosed as hereditary sensorimotor neuropathy (HSMN) between 2011 and 2016 were recruited for this study. The data of these patients were analyzed retrospectively in terms of age, gender, age at symptoms onset, referral complaints, consanguineous marriage, clinical and electrophysiological findings, familial and genetic features. Results Of the 26 patients followed up in our clinic, 13 (50%) were male. The mean age of the patients was 41±12,29, while the mean age of the symptoms onset was 23,26±13,7. Electrophysiological examinations showed axonal neuropathy in 9, demyelinating neuropathy in 12, and mixed neuropathy in 5 cases. Genetic studies revealed heterozygous PMP 22 deletion in 5 cases and PMP 22 duplication in 2 cases. Therefore, 5 cases were diagnosed as Charcot Marie Tooth (CMT)-1A, 2 cases were diagnosed as hereditary pressure sensitive polyneuropathy (HNPP), while other 19 cases were evaluated as unclassified hereditary neuropathy. Conclusion Recent advances in the field of molecular biology have provided significant development in recognition of many unclassified types of hereditary neuropathies. In our study, the phenotypic characteristics of demyelinating type cases which can be genotyped in Turkey of Sakarya province was evaluated and compared with the literature.

The Frequency of Fabry Disease in Acute Stroke Patients with Renal Insufficiency in Sakarya Province

Aim: This study aimed to investigate the frequency, clinical and genetic characteristics, and therapeutic options associated with Fabry disease (FD) in individuals with acute stroke and concomitant renal insufficiency. Material and Methods: An FD screening was performed on adult patients with renal dysfunction who were admitted to the neurology clinic due to acute stroke between 2015 and 2021. Screening was performed by a leukocyte α-galactosidase A (α-Gal A) enzyme activity assay using dried blood spot (DBS) samples from male patients. In cases where the enzyme activity was less than 2.5 nmol/ml/h, genetic analysis was performed. Female patients underwent direct genetic analysis. Results: Renal dysfunction was detected in 39 ischemic stroke patients and 5 hemorrhagic stroke patients out of a total of 401 cases. The enzyme level was found low in only one of the male patients. The c.680G>A (p.R227Q) mutation was observed in this male patient and a female patient. In the later stages of the study, it was realized with the help of pedigree analysis that these two cases were first-degree relatives. The same mutation was also detected in 13 first-degree and 2 second-degree relatives. The frequency of FD in our study group, which included patients with cerebral and renal involvement regardless of consanguinity, was 4.54%. Conclusion: Rapid detection of FD cases can be achieved by screening individuals presenting with multiple end-organ damages. To the best of our knowledge, this study highlights the underemphasized association between renal involvement and stroke in FD

Rational Molecular Design Enables Efficient Blue TADF−OLEDs with Flexible Graphene Substrate

Observation of thermally activated delayed fluorescence (TADF) in conjugated systems redefined the molecular design approach to realize highly efficient organic light emitting diodes (OLEDs) in the early 2010s. Enabling effective reverse intersystem crossing (RISC) by minimizing the difference between singlet and triplet excited state energies (ΔEST) is proven to be a widely applicable and fruitful approach, which results in remarkable external quantum efficiencies (EQE). The efficacy of RISC in these systems is mainly dictated by the first-order mixing coefficient (λ), which is proportional to spin-orbit coupling (HSO) and inversely proportional to ΔEST. While minimizing ΔEST has been the focus of the OLED community over the last decade, the effect of HSO in these systems is largely overlooked. Here, molecular systems with increased HSO are designed and synthesized by substituting selected heteroatoms of high-performance TADF materials with heavy-atom selenium. A new series of multicolor TADF materials with remarkable EQEs are achieved. One of these materials, SeDF-B, results in pure blue emission with EQEs approaching 20%. Additionally, flexible graphene-based electrodes are developed for OLEDs and revealed to have similar performance as standard indium tin oxide (ITO) in most cases. These devices are the first report of TADF based OLEDs that utilize graphene-based anodes

Brain function assessment in different conscious states

Background: The study of brain functioning is a major challenge in neuroscience fields as human brain has a dynamic and ever changing information processing. Case is worsened with conditions where brain undergoes major changes in so-called different conscious states. Even though the exact definition of consciousness is a hard one, there are certain conditions where the descriptions have reached a consensus. The sleep and the anesthesia are different conditions which are separable from each other and also from wakefulness. The aim of our group has been to tackle the issue of brain functioning with setting up similar research conditions for these three conscious states.Methods: In order to achieve this goal we have designed an auditory stimulation battery with changing conditions to be recorded during a 40 channel EEG polygraph (Nuamps) session. The stimuli (modified mismatch, auditory evoked etc.) have been administered both in the operation room and the sleep lab via Embedded Interactive Stimulus Unit which was developed in our lab. The overall study has provided some results for three domains of consciousness. In order to be able to monitor the changes we have incorporated Bispectral Index Monitoring to both sleep and anesthesia conditions.Results: The first stage results have provided a basic understanding in these altered states such that auditory stimuli have been successfully processed in both light and deep sleep stages. The anesthesia provides a sudden change in brain responsiveness; therefore a dosage dependent anesthetic administration has proved to be useful. The auditory processing was exemplified targeting N1 wave, with a thorough analysis from spectrogram to sLORETA. The frequency components were observed to be shifting throughout the stages. The propofol administration and the deeper sleep stages both resulted in the decreasing of N1 component. The sLORETA revealed similar activity at BA7 in sleep (BIS 70) and target propofol concentration of 1.2 μg/mL.Conclusions: The current study utilized similar stimulation and recording system and incorporated BIS dependent values to validate a common approach to sleep and anesthesia. Accordingly the brain has a complex behavior pattern, dynamically changing its responsiveness in accordance with stimulations and states. © 2010 Ozgoren et al; licensee BioMed Central Ltd

Median to ulnar nerve comparison on diagnosis of carpal tunnel syndrome in patients with diabetic polyneuropathy : A neurophysiological study

Background and purpose – To analyze the utility of median nerve (MN) to ulnar nerve (UN) comparative parameters on the diagnosis of carpal tunnel syndrome (CTS) in diabetic patients with distal symmetrical sensorimotor polyneuropathy (DSMPNP). Methods – Patients who were referred to our electroneuromyography laboratory within the last two years were included. We compared the diagnostic accuracy values of traditional MN conduction parameters, and the MN-to-UN comparative tests on electrodiagnosis of CTS between the patients with DSMPNP involving the nerves of upper and lower extremities (UEI-positive group), and the ones without the involvement of upper extremities (UEI-negative group). Results – There were 64 upper extremities in the UEI-positive group and 70 patients in the UEI-negative group. The most accurate traditional parameter was MN distal motor latency (DML) with a diagnostic accuracy of 70.2% whereas the most accurate comparative technique was the second lumbricalinterosseous DML difference (2L-INT DMLD) with an accuracy of 81.3%. (p=0.03). In addition, when compared diagnostic accuracy values of MN parameters with their corresponding comparative parameters in the UEI-positive group which carries the major diagnostic challenges for detecting co-morbid CTS, MN to UN minimum F wave latency (mFWL) difference, SNAP amplitude ratio on the ring finger (RF), and 2L-INT DMLD had higher accuracy values than MN mFWL, MN SNAP amplitude on RF, and MN DML on lumbrical muscle, respectively (p&lt;0.05 for all comparisons). Conclusion – MN to UN comparative studies have high accuracy values in electrodiagnosis of CTS in DSMPNP. In particular, 2L-INT DMLD could be helpful to overcome the diagnostic difficulty in the presence of UEI as an additional conduction technique.</jats:p

Median to ulnar nerve comparison on diagnosis of carpal tunnel syndrome in patients with diabetic polyneuropathy : A neurophysiological study = A nervus medianus és a nervus ulnaris összehasonlítása a carpalis alagút szindróma diagnosztikájában diabeteses polineuropathiás betegeknél – neurofiziológiai vizsgálat

Background and purpose – To analyze the utility of median nerve (MN) to ulnar nerve (UN) comparative parameters on the diagnosis of carpal tunnel syndrome (CTS) in diabetic patients with distal symmetrical sensorimotor polyneuropathy (DSMPNP). Methods – Patients who were referred to our electroneuromyography laboratory within the last two years were included. We compared the diagnostic accuracy values of traditional MN conduction parameters, and the MN-to-UN comparative tests on electro- diagnosis of CTS between the patients with DSMPNP involving the nerves of upper and lower extremities (UEI-positive group), and the ones without the involvement of upper extremities (UEI-negative group). Results – There were 64 upper extremities in the UEI-positive group and 70 patients in the UEI-negative group. The most accurate traditional parameter was MN distal motor latency (DML) with a diagnostic accuracy of 70.2% whereas the most accurate compara- tive technique was the second lumbrical- interosseous DML difference (2L-INT DMLD) with an accuracy of 81.3%. (p=0.03). In ad- dition, when compared diagnostic accuracy values of MN parameters with their cor- responding comparative parameters in the UEI-positive group which carries the major diagnostic challenges for detecting co-mor- bid CTS, MN to UN minimum F wave latency (mFWL) difference, SNAP amplitude ratio on the ring finger (RF), and 2L-INT DMLD had higher accuracy values than MN mFWL, MN SNAP amplitude on RF, and MN DML on lumbrical muscle, respectively (p<0.05 for all comparisons). Conclusion – MN to UN comparative stu- dies have high accuracy values in electro- diagnosis of CTS in DSMPNP. In particular, 2L-INT DMLD could be helpful to overcome the diagnostic difficulty in the presence of UEI as an additional conduction technique. | Háttér és cél – Annak elemzése, hogy meny- nyire hasznos a nervus medianus (MN) és a nervus ulnaris (UN) paramétereinek összeha- sonlítása distalis szimmetrikus szenzomoto- ros polyneuropathiában (DSMPNP) szenvedő diabeteses betegek carpalis alagút szindró- májának (CTS) diagnosztizálásában. Módszerek – Azokat a betegeket vontuk be, akiket az elmúlt két évben beutaltak elektroneuromiográfiás laboratóriumunkba. Összehasonlítottuk a hagyományos MN-ve- zetési paraméterek és az MN-UN összeha- sonlító tesztek diagnosztikus pontosságát a CTS elektrodiagnosztikájában a felső és alsó végtagok idegeit érintő DSMPNP-s betegek (UEI-pozitív csoport) és a felső végtagok érin- tettsége nélküli betegek (UEI-negatív csoport) között. Eredmények – Az UEI-pozitív csoportban 64 felső végtag, az UEI-negatív csoportban pedig 70 beteg volt. A legpontosabb hagyományos paraméter az MN distalis motoros latenciája (DML) volt 70,2%-os diagnosztikus pontos- sággal, míg a legpontosabb összehasonlító technika a második lumbricalis-interossealis DML-különbség (2L-INT DMLD) volt 81,3%-os pontossággal (p = 0,03). Ezenkívül, amikor az MN-paraméterek diagnosztikus pontossági értékeit összeha- sonlítottuk a nekik megfelelő összehasonlító paraméterekkel az UEI-pozitív csoportban, ami a legnagyobb diagnosztikai kihívást hordozza a társbetegség CTS kimutatásá- ban, az MN-UN minimális F-hullám-latencia (mFWL) közötti különbség, a SNAP ampli- túdó aránya a gyűrűsujjon (RF) és a 2L-INT DMLD nagyobb pontossággal bírt, mint az MN mFWL, az MN SNAP amplitúdó az RF-en, illetve az MN DML a lumbricalis izmon (p < 0,05 minden összehasonlításnál). Következtetés – Az MN és az UN össze- hasonlító vizsgálatai magas pontossági értékekkel rendelkeznek a CTS elektrodiag- nosztikájában DSMPNP-ben. Kiegészítő kondukciós technikaként különösen a 2L-INT DMLD segíthet az UEI esetén jelentkező diagnosztikai nehézség leküzdésében