35 research outputs found

    Laboratuvardan Kliniğe Transplantasyon Pratiği

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    Transplantasyon; Temel Tıbbi Bilimler, Moleküler Tıp, Genetik ve İmmünolojiden klinik uygulamalardan destek alan multidisipliner bir tıp dalıdır. Temel bilimlerdeki başarılı çalışmaların kliniğe uygulanması, klinikte karşılaşılan sorunların da, oluşturulan deneysel hayvan modellerinde irdelenmesi, elde edilen bilgilerin klinik uygulamalara aktarılması; diğer deyişle tecrübelerin “Translational” özellikli olması günümüz transplantasyon çalışmalarında bir gerekliliktir. İmmün sistemin bileşenlerinin ve reaksiyonlarının iyi bilinmesi, hücreler arası ilişkilerde greftin reddi ya da kabul edilmesinin şartlarını doğru anlamak ve uygun laboratuvar yöntemleri ile klinik durumun aydınlatılması transplantasyonda stratejik önemdedir. Bu nedenle, klinik transplantasyon çalışmaları yapanlar temel bilimler bilgileri ile de donanımlı olmalıdırlar. Multidisipliner bir dal olma bilinci ile yapılan klinik transplantasyon çalışmalarında başarı yakalanmaktadır. Laboratuvardan Kliniğe Transplantasyon kitabımızda tüm yönleri ile transplantasyonun organizmaya etkileri ve bunların klinik sonuçlarını, çalışmalarımızın ışığında sunmayı ve tartışmayı hedefledik. Editör: Prof.Dr. Mesut İzzet TİTİZ Yardımcı Editör: Doç.Dr. Pınar AT

    Infected pancreatic necrosis: outcomes and clinical predictors of mortality. A post hoc analysis of the MANCTRA-1 international study

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    : The identification of high-risk patients in the early stages of infected pancreatic necrosis (IPN) is critical, because it could help the clinicians to adopt more effective management strategies. We conducted a post hoc analysis of the MANCTRA-1 international study to assess the association between clinical risk factors and mortality among adult patients with IPN. Univariable and multivariable logistic regression models were used to identify prognostic factors of mortality. We identified 247 consecutive patients with IPN hospitalised between January 2019 and December 2020. History of uncontrolled arterial hypertension (p = 0.032; 95% CI 1.135-15.882; aOR 4.245), qSOFA (p = 0.005; 95% CI 1.359-5.879; aOR 2.828), renal failure (p = 0.022; 95% CI 1.138-5.442; aOR 2.489), and haemodynamic failure (p = 0.018; 95% CI 1.184-5.978; aOR 2.661), were identified as independent predictors of mortality in IPN patients. Cholangitis (p = 0.003; 95% CI 1.598-9.930; aOR 3.983), abdominal compartment syndrome (p = 0.032; 95% CI 1.090-6.967; aOR 2.735), and gastrointestinal/intra-abdominal bleeding (p = 0.009; 95% CI 1.286-5.712; aOR 2.710) were independently associated with the risk of mortality. Upfront open surgical necrosectomy was strongly associated with the risk of mortality (p < 0.001; 95% CI 1.912-7.442; aOR 3.772), whereas endoscopic drainage of pancreatic necrosis (p = 0.018; 95% CI 0.138-0.834; aOR 0.339) and enteral nutrition (p = 0.003; 95% CI 0.143-0.716; aOR 0.320) were found as protective factors. Organ failure, acute cholangitis, and upfront open surgical necrosectomy were the most significant predictors of mortality. Our study confirmed that, even in a subgroup of particularly ill patients such as those with IPN, upfront open surgery should be avoided as much as possible. Study protocol registered in ClinicalTrials.Gov (I.D. Number NCT04747990)

    Stuttering may be a type of action dystonia

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    We observed abnormal involuntary movements, involving principally the facial and neck muscles, in 23 patients with stuttering. These movements were similar to involuntary movements seen in distinct dystonic syndromes. There was a history of stuttering in the first degree relatives of six patients. The association of stuttering with degenerative neurologic disorders and focal brain lesions, cerebral blood flow changes in patients with developmental stuttering, its occurrence as a side effect of centrally acting drugs, induction and alleviation of stuttering by mechanical perturbation, or by electrical stimulation of the thalamus, a strong genetic predisposition with male preponderance, and the statistically significant occurrence of stuttering in the family history of patients with idiopathic torsion dystonia suggest an organic basis for developmental stuttering. These findings and the reported similarities between the involuntary movements associated with stuttering and dystonic involuntary movements support the hypothesis that stuttering is a form of segmental or focal action dystonia

    Acute peripheral facial palsy: Is there a trigeminal nerve involvement?

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    The aim of this study was to investigate trigeminal nerve involvement in patients with peripheral facial palsy. In total, 25 patients with facial nerve palsy and 19 controls were tested by electrophysiological methods regarding their facial and trigeminal nerve functions within 1 month after disease onset. The presence of an abnormal blink reflex was determined in patients with peripheral facial palsy by comparing paralytic and non-paralytic sides (12.3 +/- 1.1 and 10.8 +/- 1.3, respectively: p = 0.001). However, the average masseter inhibitory reflex difference between the paretic and non-paralytic sides of patients compared with the corresponding side-to-side comparison for controls was not statistically significant. The masseter inhibitory reflex response was abnormal in some cases. These findings suggest that the masseter inhibitory reflex, a trigemino-trigeminal reflex, was normal in most of our patients with peripheral facial palsy, but may be abnormal in individual cases. Our study showed that subclinical disorders affecting the trigeminal pathways occur in individual patients with idiopathic facial palsy, while the majority of patients have no trigeminal nerve involvement. (C) 2010 Elsevier Ireland Ltd. All rights reserved

    Three novel mutations in 20 patients with hereditary spastic paraparesis

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    Hereditary spastic paraparesis (HSP) constitutes both genetic and clinically heterogeneous group of upper motor neuron diseases. Half of the individuals with autosomal dominant (AD) HSP have mutations in SPAST, ATL1, and REEP1 genes. This study was conducted to elucidate the genetic etiology of patients with the pure type AD-HSP diagnosis. The patient group consisted of 23 individuals from 6 families in Turkey. In the first step of work, Sanger sequencing (SS) was performed in ATL1, SPAST, and REEP1 genes and the second phase whole-exome sequencing (WES) was performed following SS analysis for the patients with no detected mutations in these genes. The results of this study revealed that in ATL1, 6 patients have previously reported c.776C > A mutation and 6 patients have novel c.470 T > C mutation. In SPAST, 3 patients have novel c.1072G > C mutation and 2 patients have novel c.1099-1G > C mutation. WES was performed in three patients, who had no detected mutation in these genes with SS analysis. In this approach, as previously reported c.1859 T > C mutation in KIAA0196 was detected, and it was confirmed with the patient's relatives by SS. In three of patients, no HSP-associated variant could be identified in SS and WES. With this study, the molecular genetic etiology in 20 of 23 (87%) individuals that were included in this study with the utilization of SS and WES was elucidated. Utilization of SS and WES methods have enabled the identification of genetic etiology of HSP further with appropriate genetic counseling that was provided to the patients

    ELECTROPHYSIOLOGICAL INVESTIGATION FOR AUTONOMIC DYSFUNCTION IN PATIENTS WITH MYASTHENIA GRAVIS: A PROSPECTIVE STUDY

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    Background and purpose - Myasthenia gravis (MG) is an autoimmune disorder of neuromuscular transmission. Autonomic dysfunction is not a commonly known association with MG. We conducted this study to evaluate autonomic functions in MG & subgroups and to investigate the effects of acetylcholinesterase inhibitors

    TREATMENT OF OBSTRUCTIVE SLEEP APNEA SYNDROME BY DIAPHRAGM PACING STIMULATION IN A PATIENT WITH AMYOTROPHIC LATERAL SCLEROSIS

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    Obstructive sleep apnea syndrome (OSAS) is commonly seen in patients with neurological disorders, such as amyotrophic lateral sclerosis (ALS), especially later in disease course when diaphragmatic dysfunction and respiratory compromise becomes evident. The gold standard therapy of OSAS is the noninvasive mechanical ventilation (NIMV). The mainstay treatment for patients with ALS and respiratory disturbances is also accepted as NIMV to prolong life expectancy. Diaphragm pacing stimulation (DPS) has recently been introduced and suggested to be beneficial in patients with ALS. Here we report a patient with ALS, in whom OSAS was completely resolved upon DPS intervention. With more common application of diaphragmatic pacing in ALS patients with respiratory involvement will offer a supportive treatment rather than traditional palliative care

    R-3 COMPONENT OF THE EYE BLINK REFLEX IN VARIOUS PAINFUL CONDITIONS

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    Objective: We investigated R1, R2 and especially R3 responses of blink reflex in various painful conditions to understand the eligibility of R3 component in electrophysiological pain studies
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