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Introduction: The study aims to evaluate the motor, non-motor, cognitive and psychiatric conditions of our patients diagnosed with Idiopathic Parkinson's Disease (IPD) before and after the COVID-19 pandemic and to investigate the effect of the pandemic on male and female genders. Methods: Ninety patients were included in the study. Demographic data such as age, gender, and duration of disease, type of disease of the patients were recorded. Patients were then divided into 2 groups: male and female. Movement disorders of both groups before the pandemic, disease stage determined by H&Y and UPDRS at the admission and after the pandemic, Levodopa equivalent dose used were recorded and all patients were surveyed to evaluate their motor, non-motor, cognitive, and psychiatric conditions during the COVID-19 pandemic. The effects of the COVID-19 pandemic on male and female genders were investigated. Results: Of the patients, 40 were male and 50 were female. Daytime drowsiness, weakness, impaired walking, constipation, sleep disorders, and inability to turn in the bed worsened compared to the period before the pandemic. Yet, of the psychiatric symptoms, boredom, unhappiness, anhedonia, irritability, and tension were found to increase during the pandemic. There was a statistically significant difference in UPDRS, H&Y and disease stages before and after the COVID-19 pandemic in both groups, especially in the female group (p<0.05). Conclusion: Although it was more pronounced in female patients with IPD diagnosis, both motor and non-motor symptoms were found to worsen during the COVID-19 pandemic in both groups.
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BACKGROUND: The study aims to investigate whether the De Ritis ratio can also be used in patients diagnosed with COVID-19 as a follow-up parameter, such as NLR, which is used in the follow-up and treatment of many diseases. METHODS: Ninety-nine patients admitted to our hospital with suspected COVID-19 were included in the study. Demographic data of the patients, their history characteristics, presenting symptoms, filiation status, duration of clinical stay, and length of stay in intensive care unit, intubation, dialysis, and plasmapheresis needs were examined. The patients were divided into two groups: PCR positive and PCR negative. The presenting, 5th day, and the clinical discharge values of AST, ALT, LDH, urea, creatine, eGFR, De Ritis ratio, procalcitonin, CRP, WBC, NLR, ferritin, lymphocyte, and D-dimer levels of the patients in both groups were studied. RESULTS: The DM and CAD presence in the histories of PCR-positive patients was found to be statistically signifi-cantly higher (p = 0.05, p = 0.03, respectively). Presenting symptoms of headache, fatigue, gastrointestinal symptoms, and taste loss were significantly higher in the PCR-positive patients (p = 0.04, p = 0.02, p = 0.03, p = 0.02, respectively). In the PCR-positive patients, a statistically significant correlation was found between the presenting De Ritis ratios and the presenting NLR, 5th day NLR, and NLR at discharge (p = 0.007, p = 0.02, p = 0.015, respectively). In the PCR-positive group, the 1st and 5th day De Ritis ratios of females were statistically significantly higher than males (p = 0.000, p = 0.006, respectively). Albumin, procalcitonin, length of stay in intensive care unit were significantly higher in the PCR-positive patients, while the presenting D-dimer, presenting WBC, and presenting and 5th day lymphocyte values were significantly higher in the PCR-negative patients. CONCLUSIONS: These findings show that the De Ritis ratios can be used in PCR-positive patients as a parameter, such as NLR, to follow-up and determine the prognosis of many diseases.
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COVID-19 , Femenino , Humanos , Linfocitos , Masculino , Pronóstico , Estudios Retrospectivos , SARS-CoV-2RESUMEN
BACKGROUND: The true incidence of contralateral occult inguinal hernia (OIH) is a debate. The repair of contralateral OIH in the treatment context of clinical symptomatic unilateral inguinal hernia (IH) is controversial. This study aimed to assess the effect and clinical benefit of preoperative ultrasound (US) in the diagnosis of contralateral OIH performed before surgery. METHODS: The retrospective data of 155 consecutive male patients who underwent IH repair between January 2014 and January 2020 were analyzed. The surgical procedures for IH and the clinical outcomes of the US were evaluated. RESULTS: Of 155 patients, 29 (18.7%) presented with bilateral IH. Preoperative US was performed in 73 cases of clinical unilateral IH (n=126), and 30 (23.8%) patients were found to have a contralateral OIH. The totally extrapreperitoneal (TEP) or Lichtenstein repair was conducted. Bilateral IH repair was proposed for all, but only 28 agreed and underwent bilateral repair. Patients with clinically bilateral hernia had more complications compared with patients diagnosed to have occult contralateral IH after the US (n=3 vs. n=0). In the overall group, the TEP procedure resulted in shorter hospital stay (P=0.001) and less pain (P=0.021). CONCLUSIONS: The preoperative US may be recommended to assess the presence of a contralateral OIH as it is a noninvasive, radiation-free, widely available, relatively cheap diagnostic method. The preoperative US may change the surgical approach in up to 1/4 patients with a clinical unilateral IH. Either Lichtenstein repair or TEP repair can be performed with an acceptable complication rate in the case of OIH.
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Hernia Inguinal , Laparoscopía , Hernia Inguinal/diagnóstico por imagen , Hernia Inguinal/cirugía , Herniorrafia , Humanos , Masculino , Recurrencia , Estudios Retrospectivos , UltrasonografíaRESUMEN
INTRODUCTION: The objective of this study was to determine compound muscle action potential (CMAP) scan parameters and MScanFit motor unit number estimation (MUNE) in patients with amyotrophic lateral sclerosis (ALS) and to compare the results in the abductor pollicis brevis (APB) to those in the abductor digiti minimi (ADM). METHODS: CMAP scans were recorded from the APB and ADM in 35 patients with ALS and 21 controls. MScanFit MUNE, neurophysiological index (NI), step%, returner%, and D50 were calculated. RESULTS: CMAP scan parameters including the returner%, MScanFit MUNE, and NI can distinguish ALS with high sensitivity and specificity. The electrophysiological parameters, with the exception of D50 (the number of largest consecutive differences of recorded responses generating 50% of maximum CMAP), showed more pronounced changes in the APB than in the ADM, even though most of the patients had normal APB/ADM amplitude ratios. DISCUSSION: CMAP scan parameters and MScanFit MUNE can be used in the evaluation of denervation and reinnervation and may herald the "split hand" in ALS.
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Potenciales de Acción/fisiología , Esclerosis Amiotrófica Lateral/fisiopatología , Mano , Músculo Esquelético/inervación , Adulto , Anciano , Esclerosis Amiotrófica Lateral/diagnóstico , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/fisiología , Regeneración NerviosaRESUMEN
Research on Parkinson's disease fails to pinpoint a single gene or a gene product as the causative factor. However, the early onset form of the disease may be caused by mutations in PARK2 gene. Some studies related to the biochemistry or other aspects of the PARK2 gene or its product mostly used cDNA generated from substantia nigra of the mid-brain. This is essentially because the presence of the 1.4kb full-length PARK2 cDNA in human leukocytes is, so far, not demonstrated although some splice variants and short RT-PCR products were reported. In this study, we synthesized a 1.4kb full-length PARK2 cDNA from human leukocytes, cloned and expressed it both in Escherichia coli and in HeLa cells. The presence of Parkin protein was also demonstrated in human serum using Western blotting and MALDI-TOF analysis. The results of this study showed a simple way for routine amplification of PARK2 cDNA from human blood and may become a useful diagnostic tool in the future.
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Chaperonas Moleculares/sangre , ARN Mensajero/sangre , Ubiquitina-Proteína Ligasas/sangre , ADN Complementario/genética , ADN Complementario/metabolismo , Escherichia coli/metabolismo , Células HeLa , Humanos , Leucocitos/metabolismo , Proteínas de Microfilamentos , Chaperonas Moleculares/genética , Mutación , Enfermedad de Parkinson/sangre , Enfermedad de Parkinson/genética , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismoRESUMEN
There have been no serial studies about neuroradiological findings of neurosyphilis in the literature. There have been only case reports concerning HIV negative patients with neurosyphilis. We present 8 HIV negative neurosyphilis patients two of whom are women. The mean age of the patients was 48 years+/-12.37. Five of the 8 patients had general paresis, two optic atrophy and one multiple cranial neuropathies. The CSF findings were quite similar in 6 of 8 patients. In half of the patients cranial MRI showed mild cerebral atrophy. Nonspecific hyperintense small foci in 3 patients are thought to be related to syphilis. Hyperintensity involving bilateral medial and anterior temporal regions more prominent on the left side was seen in one of the patients with general paresis. This finding may be due to cytotoxic edema associated with status epilepticus and may mimic herpes simplex and other limbic encephalitides. Though not typical, certain MRI findings guides for the diagnosis of neurosyphilis.
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Corteza Cerebral/patología , Seronegatividad para VIH , Imagen por Resonancia Magnética , Neurosífilis/patología , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neurosífilis/virologíaRESUMEN
OBJECTIVES: To summarize and analyze the experience in CNS involvement (CNSI) in children with sarcomas treated in the above-mentioned institutions. PATIENTS AND METHODS: From 1990 to 2001, all medical charts were retrospectively reviewed: 19 sarcoma patients (12 boys and 7 girls) were diagnosed with CNSI (4 osteogenic sarcomas, 11 Ewing sarcomas, 2 rhabdomyosarcomas, 1 alveolar soft part sarcoma and 1 mesenchymal chondrosarcoma). Mean age of all patients at the time of initial diagnosis was 14.9 years (range: 4-24 years), mean age at the time when CNSI was diagnosed was 16.9 years (range: 5.5-27 years). RESULTS: The frequency of CNSI among our patients was 6.17%. The following symptoms and signs (sometimes combined) presented: headache (10 patients), nausea and vomiting (6 patients), seizures (11 patients) and focal neurological signs (9 patients). The mean duration of time elapsed since diagnosis of CNSI till death or last follow-up was 5.2 months (SD: +/-5.7 months). Four patients received chemotherapy (CT) alone, 8 CT and radiotherapy (RT), 2 RT alone, 3 supportive treatment only, 1 CT and surgery and 1 surgery alone. Sixteen patients died; there was no significant difference in the duration of survival between those who were treated with RT or surgery (mean +/- SD: 6.77 +/- 6.56 months) and those who received only CT or supportive treatment (mean +/- SD: 2.60 +/- 2.94 months) (p = 0.07). Brain disease was the main cause of death in all but 1 patient who died 4 days after autologous bone marrow transplantation from uncontrolled sepsis. In 16 patients, CNSI was part of a metastatic disease. CONCLUSIONS: Among children with sarcoma, CNSI is encountered in 6.17% of cases. More effective therapy has to be developed in order to improve their outcome.
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Neoplasias del Sistema Nervioso Central , Sarcoma , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias del Sistema Nervioso Central/diagnóstico , Neoplasias del Sistema Nervioso Central/epidemiología , Neoplasias del Sistema Nervioso Central/terapia , Quimioterapia Adyuvante , Niño , Preescolar , Femenino , Humanos , Israel/epidemiología , Masculino , Radioterapia Adyuvante , Sarcoma/diagnóstico , Sarcoma/epidemiología , Sarcoma/terapia , Análisis de Supervivencia , Resultado del TratamientoRESUMEN
The presence of subclinical cognitive impairment in patients with amyotrophic lateral sclerosis (ALS) is investigated using neuropsychological assessment and event-related potential recordings (ERP). An extensive battery of neuropsychological tests assessing the domains of attention, memory, language, visuo-spatial and executive functions were administered to 20 non-demented patients with sporadic ALS and 13 age- and education-matched healthy control subjects. Mismatch negativity (MMN), P3b, P3a (novelty P300) and contingent negative variation (CNV) were recorded. ALS patients were significantly impaired in tests of working memory, sustained attention, response inhibition, naming, verbal fluency and complex visuo-spatial processing. The memory impairment seemed to be secondary to deficits in forming learning strategies and retrieval. In ERP recordings, P3a and P3b amplitudes of ALS patients were lower compared with the controls, P3a latencies were significantly longer and mean CNV amplitudes were higher. These results indicate subclinical impairment of cognitive functions in patients with ALS. The pattern of cognitive impairment suggests the dysfunction of the frontal network.
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Esclerosis Amiotrófica Lateral/fisiopatología , Esclerosis Amiotrófica Lateral/psicología , Trastornos del Conocimiento/fisiopatología , Trastornos del Conocimiento/psicología , Potenciales Evocados/fisiología , Pruebas Neuropsicológicas , Adulto , Análisis de Varianza , Trastornos del Conocimiento/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas/estadística & datos numéricos , Estadísticas no ParamétricasRESUMEN
Systemic metastatic calcification is a common complication of chronic renal failure. Cardiac involvement is particularly ominous, especially when the cardiac conduction system is affected. Conduction defects, arrhythmias, and sudden death have all been reported with conduction system calcification; however, these are relatively under-reported or unrecognized causes of cardiac morbidity and mortality. We describe a 40-year-old man with Von Hippel-Lindau disease who had been maintained on hemodialysis for two years following bilateral nephrectomies for renal cell carcinoma. The patient presented with symptomatic complete heart block that had progressed from Mobitz type I atrioventricular block. Two months later, while being internally paced, the patient died unexpectedly after a complicated hospital admission. Postmortem revealed extensive vascular, myocardial, and conduction system calcification. Conduction system calcification may cause sudden death in chronic renal failure patients during hospital admission, or unexpectedly while the patient is in the community. Knowledge of this condition is necessary to detect it, as the conduction system is not routinely examined. A routine abbreviated conduction system examination is warranted for patients with systemic metastatic calcification, especially if they have sudden death or a known history of heart block.
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Calcinosis/diagnóstico , Cardiomiopatías/diagnóstico , Bloqueo Cardíaco/diagnóstico , Fallo Renal Crónico/complicaciones , Adulto , Calcinosis/patología , Cardiomiopatías/patología , Causas de Muerte , Muerte Súbita , Medicina Legal , Humanos , MasculinoRESUMEN
Congenital dyserythropoietic anemias (CDA) are a rare group of red-blood-cell disorders of unknown etiology that are characterized by ineffective erythropoiesis, pathognomonic cytopathology of the nucleated red blood cells in the bone marrow, and secondary hemochromatosis. In CDA type I, bone-marrow electron microscopy reveals characteristic findings in erythroid precursors, including spongy heterochromatin and enlarged nuclear pores. Since the genetic basis of CDA type I is not evident, we used homozygosity and linkage mapping to localize the genetic defect responsible for CDA type I in 25 Bedouins from four large consanguineous families. We report the linkage of this disease to markers on chromosome 15 located at q15. 1-q15.3. Fourteen markers within a 12-cM interval were typed in the relevant family members. Nine of the markers yielded maximum LOD scores of 1.625-12.928 at a recombination fraction of .00. Linkage disequilibrium was found only with marker D15S779. Haplotype analysis revealed eight different carrier haplotypes and highlighted the existence of a founder haplotype. Identification of historical crossover events further narrowed the gene location to between D15S779 and D15S778. The data suggest localization of the CDA type I gene within a 0.5-cM interval. The founder mutation probably occurred >/= 400 years ago. Sequence analysis of the coding region of protein 4.2, the only known erythroid-specific gene in the locus, did not reveal any change in the CDA type I patients. Future analysis of this locus may lead to the identification of a gene essential to normal erythropoiesis.