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Myasthenia gravis (MG) is an autoimmune disease characterized by impaired neurotransmission at the neuromuscular junction. MG is generally non-inherited but is rarely inherited. Here, we report two patients with MG in the same pedigree a 62-year-old Japanese man and his 46-year-old daughter who were positive for anti-acetylcholine receptor antibodies and had thymoma. We performed whole-exome sequencing (WES) and human leukocyte antigen (HLA) analyses to investigate the genetic contribution to familial onset. WES analysis of both patients showed no known variations in candidate genes for familial MG, and HLA analysis failed to detect HLA haplotypes seen in early-onset and late-onset MG. These findings suggest the presence of an unknown genetic background. Previous genetic studies on familial MG have identified ENOX1 and IFNGR1 as candidate genes in patients without thymoma, whereas no studies have identified candidate genes in patients with thymoma. To explore causative genes, it may be necessary to consider whether the genetic background differs between patients with and without thymoma in familial autoimmune MG.Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the loss of dopamine-producing neurons in the substantia nigra and the abnormal cytoplasmic accumulation of proteinaceous aggregates called Lewy bodies (LBs), mainly composed of α-synuclein (α-syn). In recent years, it has been gradually recognized that fatigue is one of the most common and disabling symptoms in PD patients, with a prevalence of approximately 50%. Although neuroinflammation, a pathological hallmark of PD, is closely associated with fatigue, present mechanisms of fatigue in PD patients have not yet been systematically summarized, with their inflammatory predictors remaining controversial. Therefore, the aim of this brief review is to fill in the gaps in our understanding on the inflammatory factors involved in the pathophysiological mechanisms of fatigue and predicting its occurrence in PD patients. The determination of fatigue is mainly assessed using the Parkinson Fatigue Scale 16 (PFS-16) and Fatigue Severby combining with BBB endothelial cells, allowing many proinflammatory cytokines to cross the destroyed BBB and enter the brain, preventing astrocytes from reuptaking glutamate and laying foundations for the occurrence of fatigue. Furthermore, studies have suggested that fatigue symptoms in PD patients often represent a poor prognosis. Nevertheless, if the aforementioned inflammatory markers can effectively predict the occurrence of fatigue and allow early intervention, the prognosis of PD patients could be significantly improved. At present, its management mainly includes medical treatment (levodopa, dopamine receptor agonists, rasagiline, and antidepressants) and non-medical treatment (acupuncture and yoga). Thus, it is of great significance to be able to practice early detection and intervention in fatigue and improve the prognosis of patients with PD.
Skull base hemangiopericytomas are rare malignant meningothelial tumors involving anterior, middle, and posterior cranial fossa. The outcome of these tumors is inferior due to aggressive behavior and local recurrence. The study aimed to find out the factors affecting the early recurrence and the late recurrence.
A retrospective study was performed over 15 years, and patients were included from a single neurosurgical unit. A total of 35 patients were recruited for analysis.
Twenty-five (71.4%) cases were in the posterior fossa, four (11.4%) cases in the middle cranial fossa, and three (8.6%) patients in the anterior cranial fossa. Fourteen (40%) cases underwent gross total excision, 21(60%) cases subtotal excision. Follow up available for 32 patients, and the median follow -up duration was 64 months (6-240 months). Progression-free survival for the gross total resection group was 104 months compared to 60 months for subtotal resection (p=0.07). Nineteen (54.3%) cases had recurrence during follow- up period. Six (17.1%) cases recurrence at 1-year time, five (14.3%) cases at 3-year time, three (8.6%) at 5-yr time, four (11.4%) cases at 10- year time. Seventeen (48.6%) cases received radiotherapy, and 13 cases underwent re-exploration and excision of the tumor. Univariate ordinal logistic regression showed that the extent of resection was associated with 1-year, 3-year and 5-year recurrence. Multivariate ordinal logistic regression showed that only extent of resection (STR) was associated with both early and late recurrence.
The extent of resection is the main predictor of early and delayed recurrence. Upfront radiation therapy has superior tumor control in skull base location.
The extent of resection is the main predictor of early and delayed recurrence. Upfront radiation therapy has superior tumor control in skull base location.
Bitemporal epilepsy (biTLE), a potential cause of failure in TLE surgery, is rarely associated with unilateral HS and could be suggested by not lateralizing ictal scalp EEG/interictal PET-FDG findings. We evaluated the proportion of biTLE in a population of drug-resistant TLE-HS subjects who underwent intracranial investigation for lateralizing purpose.
We retrospectively included all consecutive refractory TLE-HS patients and not lateralizing ictal scalp EEG/interictal PET-FDG findings, investigated by intracranial bilateral longitudinal hippocampal electrodes. Demographic characteristics, electroclinical findings and seizure outcome were evaluated.
We identified 14 subjects (7 males; mean age 39.5 years; mean age at disease onset 14.4 years), 7 of them had biTLE diagnosed after intracranial investigations. In the remaining 7 with unilateral epileptogenesis (uniTLE) anterior temporal lobectomy was performed (6/7 were in Engel class I). Preoperative neuropsychological assessment differentiated biTLE fro, further studies are needed to better define the optimal investigation strategy.Changes in lifestyle and body weight were examined retrospectively in students at a German university during the first COVID-19 lockdown period (March 12- May 3, 2020) using an online survey. Data from a total of 827 participants was used. Almost half of the students reported perceived body weight changes with about 27% gaining weight and around 22% losing weight. Regression analyses showed that consumption changes in the following food categories fruits, sweets and cakes, bread and bakery products, pasta, savoury snacks, and meats and sausages were predictive of weight changes. Additionally, changes in the frequency of cooking with fresh ingredients, physical activity, exercise, smoking, and alcohol consumption as well as pre-lockdown BMI were all predictive of weight changes. Given the continuous global pandemic, increased and innovative public health efforts to support this population group are needed.
Intra-ampullary papillary tubular neoplasms (IAPNs) are relatively rare kind of neoplasms occurring in the region of the papilla which exhibit significant malignant transformation. The patient was concerned about his pain and the possibility of malignancy.
We report a case of a 47-year-old male who presented with persistent upper abdomen pain. Following detail investigations, he was diagnosed as IAPN and managed by transduonal ampullectomy (TDA).
The insidious onset of IAPN along with its high risk of malignancy makes it mandatory for its proper treatment. Although, endoscopic approach is advantageous for initial therapy, it has some technical difficulties. Hence TDA forms the cornerstone in the management of IAPN with good prognosis.
Transduodenal ampullectomy is a safe and feasible option for IAPN. It can be the first choice of treatment in selected cases where endoscopic papillectomy is not available.
Transduodenal ampullectomy is a safe and feasible option for IAPN. It can be the first choice of treatment in selected cases where endoscopic papillectomy is not available.
Gallbladder torsion is an unusual cause of an acute abdomen that can be mortal. It is presenting in variable ways, but the most common is symptomatology similar to acute cholecystitis. Clinical manifestations and imaging features can facilitate diagnosis, and treatment is detorsion with cholecystectomy.
A 26-year-old male presented to the emergency department with intense abdominal pain, vomiting. The patient did not respond to symptomatic treatment and continued to present pain, nausea, and vomiting. The Ct scan showed signs of acute cholecystitis. The patient underwent laparoscopic cholecystectomy and found that the gallbladder was gangrene, enlarged due to torsion. Detorsion and cholecystectomy were carried out without complications.
A 26-year-old male presented to the emergency department with intense abdominal pain, vomiting. selleck compound The patient did not respond to symptomatic treatment and continued to present pain, nausea, and vomiting. The Ct scan showed signs of acute cholecystitis. The patient underwent laparoscopic cholecystectomy and found that the gallbladder was gangrene, enlarged due to torsion. Detorsion and cholecystectomy were carried out without complications.
Although hypovitaminosis D appears to be highly prevalent in patients with coronavirus disease 2019 (COVID-19), its impact on their prognosis remains unclear.
In this study, serum 25-hydroxyvitamin D (Vit-D) level was measured in 200 patients hospitalized with COVID-19. The association between Vit-D and the composite endpoint of intensive care unit (ICU) admission/in-hospital death was explored using univariable and multivariable analyses. Also, serum Vit-D level in patients with COVID-19 was compared with that in age- and sex-balanced COVID-19-negative controls (i.e., 50 inpatients with sepsis).
Serum Vit-D level was comparable between patients with COVID-19 and COVID-19-negative inpatients with sepsis (P=0.397). No significant differences were found in serum Vit-D level according to COVID-19 severity at the time of hospital admission (P=0.299). Incidence rates of the composite endpoint of ICU admission/in-hospital death did not differ significantly between patients with either Vit-D deficiency (i.e., Vit-D <20 ng/mL) or severe Vit-D deficiency (i.e., Vit-D <12 ng/mL) and those without (31% vs 35% with P=0.649, and 34% vs 30% with P=0.593, respectively). Vit-D level and status (i.e., Vit-D deficiency and severe Vit-D deficiency) were not prospectively associated with the risk of the composite endpoint of ICU admission/in-hospital death (P > 0.05 for all Cox regression models).
Regardless of the potential usefulness of Vit-D measurement to guide appropriate supplementation, Vit-D does not appear to provide helpful information for the stratification of in-hospital prognosis in patients with COVID-19.
Regardless of the potential usefulness of Vit-D measurement to guide appropriate supplementation, Vit-D does not appear to provide helpful information for the stratification of in-hospital prognosis in patients with COVID-19.
This study aimed to examine the effects of protein intake on physical performance in critically ill adult patients admitted to the intensive care unit (ICU).
This was a retrospective cohort study of adult patients mechanically ventilated over 48 h in the ICU who were classified into two groups based on the amount of protein intake >1.0 g/kg/d (high-protein group) or <1.0 g/kg/d (low-protein group). After adjustment for possible confounding factors with propensity score matching, we compared muscle strength at the time of ICU discharge and the rate of recovery to independent walking between the two groups.
One-to-one propensity score matching created 20 pairs. The high-protein group had significantly higher muscle strength than the low-protein group at the time of discharge from the ICU. In addition, the rate of recovery to independent walking before hospital discharge was higher in the high-protein group than the low-protein group (16 of 20 patients [80%] vs. 8 of 20 patients [40%]; P=0.032).
Our findings indicate that a sufficient amount of protein intake may lead to a higher rate of recovery to independent walking before discharge from the hospital in critically ill patients admitted to the ICU.
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