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Search for the word below: heat-shock protein 72
Number of hits: 116
MAY 30, 2020
[Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. Presently cc. close to 600 mutations distributed throughout the whole gene have been reported. The c.-32-13T>G splice mutation that is very common in patients of Caucasian origin affected by the childhood/adult form of the disease, with an allelic frequency close to 70%. Enzyme replacement treatment (ERT) is available for the patients with Pompe disease (Myozyme). In this paper, we are presenting the long term follow up of 13 adult onset cases treated more than 5 years. The longest follow up was 15 years. To evaluate the treatment efficacy, the 6 minutes walking test (6MWT) and the respiratory functions were monitored annually. The analysis revealed that at the beginning of ERT for 3-4 years the 6MWT had been generally increasing, then it declined, and after 10 years it was lower in 77% of the cases than it had been at the start of the treatment. In 23% of the cases the 6MWT increased during the follow up time. Only one of the patients become wheelchair dependent during the follow-up period. The respiratory function showed similar results especially in supine position. A high degree of variability was observed among patients in their responses to the treatment, which only partially associated with the antibody titer against the therapeutic protein. The efficacy of the ERT was associated with the type of the disease causing mutation, the baseline status of the disease, the lifestyle and the diet of the patient. The long-term follow up of the patients with innovative orphan drugs is necessary to really understand the value of the treatment and the need of the patients.]
NOVEMBER 20, 2015
[Relapsing polychondritis (RP) is an episodic and progressive inflammatory disease of cartilaginous structures. Its diagnosis is based primarily on clinical features such as laboratory parameters, biopsy. Neurological complications occur in 3% of the cases and are classified as an important cause of death. The cranial nerve disorders are most common but hemiplegia, ataxia, myelitis, polyneuritis, seizures, confusion, hallucination and headache can also happen. The aetiology of central nervous system involvement is still unknown. Moreover stroke has rarely reported in these patients. The diagnosis of stroke is challenging because of its rarity among these patients. Perhaps vasculitis is the common underlying mechanism. Also meningitis and encephalitis can occur during the course of RP. A 44 year-old woman was admitted with uncontemplated left hemiparesis, redness, swelling, and tenderness of the metacarpophalangeal and interphalangeal joints of the right hand and the cartilaginous portion. White blood cell count, C-reactive protein and the erythrocyte sedimentation rate were elevated. Vasculitis biomarkers were normal in our patient. Carotid and vertebral artery doppler ultrasonography, cranial and cervical MR Angiography were normal. Echocardiography showed a mild mitral valve prolapse and regurgitation. Our patient had the history of auricular polychondritis but she had not been diagnosed. Hemiparesis was her first neurological manifestation that led her to doctors for diagnosis. Our patient fulfilled the criteria of RP so no biopsy was needed. She was treated with oral prednisolone (80 mg/day) and aspirin (300 mg/day) and now she is on 10 mg prednisolone and 150 mg azathioprine. Two months later her physical and neurological symptoms returned to normal.]
Hypertension and nephrology
APRIL 24, 2020
[In chronic kidney disease (CKD), the role of the kidney in assuring homeostasis is gradually deteriorating. Besides fluid, electrolyte and hormonal disturbances, detoxification and control of blood pressure is insufficient without external help. In children, in addition to achieving equilibrium it is also essential to ensure optimal physical and cognitive/psychological development. Adequate calorie intake is a major determinant of growth during infancy. Among the therapeutic options it is essential to ensure a proper diet. In addition to reflecting the special needs of renal failure in its composition, it must be palatable for the child. Children with kidney disease should have a normal energy diet. Protein intake should not be reduced from the baseline recommendation, but lower phosphorus and high bioavailability should be preferred. A low sodium and potassium diet is recommended for a significant proportion of patients and is based on dietary advice. Further, diet planning may be problematic if the child has special dietary requirements and is in need of nasogastric tube feeding. Because diet planning is a complex task, it is difficult to achieve optimal protein supply and mineral restriction along with high energy intake. In such cases, enteral nutrition with special formulas/ drinks developed for pediatric nutrition may provide a solution.]
MARCH 30, 2020
CANOMAD (chronic ataxic neuropathy, ophthalmoplegia, M-protein agglutination, disialosyl antibodies) syndrome is a rare polyneuropathy. IgM paraproteins react with ganglioside-containing disialylated epitopes resulting in dorsal root ganglionopathy and B-lymphocyte infiltration of cranial and peripheral nerves. Clinical features include ataxia, slight muscle weakness, areflexia, sensory- and cranial nerve symptoms. Case studies have reported the efficacy of rituximab and intravenous immunoglobulin (IVIg) treatments. We present the case of a 57-year-old man, who had difficulty walking, with numbness and clumsiness in all limbs. He had areflexia, vibratory sensation loss and ataxia. Laboratory tests showed IgM monoclonal components and disialosyl antibodies in the serum. Nerve conduction studies indicated severe sensorimotor demyelinating polyneuroradiculopathy. Despite IVIg and rituximab treatments, the patient’s disease course gradually worsened and he died of respiratory failure. Neuropathological examination revealed dorsal column- and dorsal root atrophy with mixed mononuclear cell infiltration. This article aims to draw attention to this syndrome, and the use of early potent immunosuppressive treatment to improve patients’ quality of life.
FEBRUARY 20, 2019
[Our basic nature requere cells quantity and quality to perform differenciate activity. p53 has the responsibility for quick out those cells who carries molecular failures in DNA avoiding transfer mutations into doughter cells. If the DNA-repair insuffi cient p53s with on apoptosis. Whe p53 is mutated the phenotypes are different in a wide range due to the heterogenity of the DNA damages, and also the expression pattern of a suppressor protein. With the increasing amout the damaged DNA the genomic instability elevates D the risk to development of tumors. It is linict mutated gene could be a promosing tr, 10t for therapy. So far the attempts have little value for the clinic.]
JULY 30, 2019
Introduction - The aim of this study is to evaluate utility of CHADS2 score to estimate stroke severity and prognosis in patients with ischemic stroke due to non-valvular atrial fibrillation (AF) in addition to evaluate effects of hematologic and echocardiographic findings on stroke severity and prognosis. Methods - This prospective study included 156 ischemic stroke cases due to non-valvular AF in neurology ward of Trakya University Medical School between March 2013-March 2015. National Institute of Health Stroke (NIHS) score was used to evaluate severity of stroke at admission. Carotid and vertebral Doppler ultrasonography findings, brain computed tomography (CT) and magnetic resonance imaging (MRI) of the cases were evaluated. Left atrial diameter and ejection fraction (EF) values were measured. CHADS2 score was calculated. Modified Rankin Scale was used to rate the degree of dependence. Effects of age and sex of the patients, presence of diabetes mellitus (DM), Congestive Heart Failure (CHF), Cerebrovascular Disease (CVD) and C-reactive protein (CRP) levels on CHADS2, NIHS, and mRS were evaluated. Results - In patients with age ≥75, mean NIHS score was 3.3 points and mean mRS score was 1.02 points higher, than in patient below 75 years of age. Compared with the mild risk group, cases in the high risk group had older age, higher serum D-dimer, fibrinogen and CRP levels and lower EF. A positive relation was detected between stroke severity and Hemorrhagic Transformation (HT), previous CVD history, and presence of CHF. A significant association was found between increased stroke severity and Early Neurological Deterioration (END) development. Older age, higher serum fibrinogen, D-dimer, CRP and lower EF values were associated with poor prognosis. History of CVD and presence of CHF were associated with poor prognosis. END development was found to be associated with poor prognosis. In the high-risk group, 30.3% (n = 33) had END. Among those in the high-risk group according to the CHADS2 score, END development rate was found to be significantly higher than in the moderate risk group (p <0.05). There was a strong positive correlation between CHADS2 and NIHS scores. mRS score increased with increasing CHADS2 score and there was a strong correlation between them. Effect of stroke severity on prognosis was assessed and a positive correlation was found between NIHS score and mRS value. Discussion - Our study demonstrated the importance of CHADS2 score, haemostatic activation and echocardiographic findings to assess stroke severity and prognosis. Knowing factors which affect stroke severity and prognosis in patients with ischemic stroke may be directive to decide primary prevention and stroke management.
JULY 30, 2019
Cerebral cavernous malformations (CCMs) represent a relatively rare and heterogeneous clinical entity with mutations identified in three genes. Both sporadic and familial forms have been reported. We present a young female patient with episodic paresthesia and headaches, but without acute neurological deficits. Her mother had a hemorrhaged cavernoma surgically removed 21 years ago. Cranial magnetic resonance imaging revealed multiple cavernous malformations in the size of a few millimeters and the ophthalmologic exam detected retinal blood vessel tortuosity in the proband. Targeted exome sequencing analysis identified a nonsense mutation in exon 16 of the KRIT1 gene, which resulted in a premature stop codon and a truncated protein underlying the abnormal development of cerebral and retinal blood vessels. This mutation with pathogenic significance has been reported before. Our case points to the importance of a thorough clinical and molecular work up despite the uncertain neurological complaints, since life style recommendations, imaging monitoring and genetic counseling may have major significance in the long term health of the patient.
JULY 30, 2019
Morvan syndrome is a rare disease characterized by peripheral nerve hyperexcitability, encephalopathy, dysautonomia and significant insomnia. The patient, who was included in the present study, was followed-up at our clinics for confusion, myokymia, hyperhidrosis, epileptic seizures, tachycardia, agitation, hypokalemia, and hyponatremia. The cranial MRI of the patient demonstrated hyperintensities at the T2 and FLAIR sections of the medial temporal lobe and insular lobes. Electromyography and neurotransmission examination results were concordant with peripheral nerve hyperreactivity. Contactin-associated protein-like 2 antibodies and leucine-rich glioma inactivated protein 1 antibodies were detected as positive. The patient was diagnosed with Morvan syndrome; intravenous immunoglobulin and corticosteroid treatment was started. Almost full remission was achieved. This very rare syndrome implies challenges in diagnosis and treatment; however, remission can be achieved during the follow-up. In addition, caution is needed in the long-term follow-up of these patients regarding the development of malignancies.
Lege Artis Medicinae
MARCH 20, 2019
[In old and very old age, one of the most prevalent signs of aged body’s decline is the progressive loss of muscle mass and function. First itself the physiological aging process can be dominant in the complex causative background but later it is usually intertwined with pathological mechanisms. The importance of muscle system is extremely high in the physiological regulation of various vital life processes The paper also points out the far-reaching consequences of sarcopenia syndrome that leads to general weakness, falls, traumas, acceleration of co-morbidities, rapidly declining self independence, ultimately frailty syndrome, and death. The initial body mass index has been recently replaced by a more adequate, more complex diagnostic approachment of sarcopenia that evaluates both muscle mass/strength and physical performance. Prevention or breaking the process of sarcopenia needs complex intervention which includes special fast protein rich diet with leucin and vitamin D combined with frequent physical exercise. ]
JANUARY 30, 2019
Since the definite diagnosis of Creutzfeldt-Jakob disease (CJD) can currently only be provided by autopsy, there is a special need for fine diagnostic tools in live patients to achieve accurate diagnosis as early as possible. The aim of this study was to perform a preliminary retrospective analysis on the utility of the measurement of total Tau (tTau) and some other biomarkers from the cerebrospinal fluid (CSF) of patients with rapidly progressive dementia in the diagnostic work up of CJD. Beside the assessment of relevant clinical data and the findings of electroencephalography and brain magnetic resonance imaging, the presence of 14-3-3 protein and the levels of tTau were determined by Western blot technique and enzyme-linked immunosorbent assay from the CSF of 19 patients diagnosed with rapidly progressive dementia between the period of 2004-2017 at the Department of Neurology, University of Szeged. This preliminary study provided 100% sensitivity for 14-3-3, and interestingly, only 40% specificity to support the clinical diagnosis of CJD. Regarding tTau, the sensitivity values were calculated to be 100% or 83%, whereas the specificity values were 71% or 86%, depending on the applied cut-off levels. The poor specificity of 14-3-3 is not in line with literature data and may be the result of the small number of patients in the cohort with non-prion disease, predominantly consisting of disorders with considerable tissue damage, whereas tTau presented good sensitivity and specificity values. The combined application of these and novel chemical biomarkers may increase both sensitivity and specificity to a desired level.
Clinical NeuroscienceLate carcinomatous meningitis as vertigo
Clinical NeuroscienceAlexithymia is associated with cognitive impairment in patients with Parkinson’s disease
Lege Artis Medicinae[COVID-19-cardiology at spring, 2020]
Clinical Oncology[Opportunities and challenges in online support of cancer patients]
Clinical Oncology[Role of infl ammation in the carcinogenesis]
Clinical Oncology[Treatment sequencing in metastatic colorectal cancer]
Clinical Oncology[The treatment of the locally advanced and the metastatic gastric cancer]
Clinical Oncology[Non-surgical treatment of ovarian cancer]