Notes

Integrated Genome along with Transcriptome Sequencing to resolve the Neuromuscular Bigger picture: Miyoshi Carved Dystrophy and Earlier Starting point Principal Dystonia in Sisters and brothers of the Same Family members.
Merkel cell carcinoma (MCC) is a rare and aggressive form of skin cancer. Many people suffer early local recurrences and distant metastases. The anti-PDL1 (PDL1 programmed death ligand 1) antibody avelumab has been approved as first-line treatment for advanced MCC in Europe. It is also an alternative treatment for old and multimorbid patients.The case of a 32-year-old female with ulcerative colitis who developed severe papulopustular dermatitis while undergoing treatment with the Janus kinase (JAK) inhibitor tofacitinib. Despite intensive topical therapy, treatment with oral corticosteroids and oral doxycycline was unable to achieve sufficient improvement. Hence, tofacitinib treatment needed to be discontinued. It is well known that the class of JAK inhibitors can cause infectious and allergic cutaneous side effects. However, sterile papulopustular dermatitis as a side-effect has rarely been reported to date.We examined changes in brain rhythms in relation to optimal performance in self-paced sports. Eight studies met the inclusion/exclusion criteria, representing 153 participants and eight different sports. We found that (a) optimal performance is characterised by increased alpha (g = .62, p = .02) and theta (g = .74, p = .002) across the cortex; (b) during optimal performance the frontal lobe is more relaxed (higher alpha; g = 1.06, p = .18) and less busy (lower theta; g = .38, p = .08), in comparison to the other brain lobes; (c) for the same given task, experts' brains are more relaxed (higher alpha, g = .89, p = .34) and less busy (lower theta, g = .91, p = .54) than novices' brains. Theoretically, our findings suggest that neural efficiency, neural proficiency, and transient hypofrontality are likely complementary neural mechanisms that underpin optimal performance. In practice, neurofeedback training should teach athletes how to amplify and suppress their alpha and theta activity across the brain during all movement stages.Age-related declines in fine motor control may impact tool-use and thereby limit functional independence. Most previous research has, however, focused on the effect of aging on gross motor tasks. Few studies have investigated the effects of aging on the strategy or quality of fine motor skills, especially in tool-use, which may better reflect how age impacts complex movement capability. Twenty-two young (ages 19-35) and 18 older adults (ages 58-87) performed a timed upper extremity task using a tool to acquire and transport objects to different locations. Overall task performance was divided into two phases based on 3-D position of the tool a gross motor phase (object transport) and a fine motor phase (object acquisition). Overall, older adults took longer to complete the task. A linear model indicated that this was due to the duration of the fine motor phase more so than the gross motor phase. To identify age-related differences in the quality of the fine motor phase, we fit three-dimensional ellipsoids to individual data and the calculated the ellipsoid volume. Results demonstrated a significant volume-by-age interaction, whereby increased ellipsoid volume (space the tool occupied) related to increased mean dwell time for the older adult group only; younger adults did not demonstrate this relationship. Additionally, older adults with longer movement times during the fine motor phase also had lower cognitive scores. No age-related differences were observed for the gross motor phase, suggesting that age-related declines in tool-use may be due to changes in fine motor control and cognitive status.
The advent of immune checkpoint inhibitors (ICIs) has revolutionized the treatment of advanced NSCLC, leading to a string of approvals in recent years. Herein, a narrative review on the role of 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) in the ever-evolving treatment landscape of advanced NSCLC is presented.

This comprehensive review will begin with an introduction into current treatment paradigms incorporating ICIs; the evolution of CT-based criteria; moving onto novel phenomena observed with ICIs and the current state of hybrid imaging for diagnosis, treatment planning, evaluation of treatment efficacy and toxicity in advanced NSCLC, also taking into consideration its limitations and future directions.

The advent of ICIs marks the dawn of a new era bringing forth new challenges particularly vis-à-vis treatment response assessment and observation of novel phenomena accompanied by novel systemic side effects. While FDG PET/CT is widely adopted for tumor volume d its inherent limitations. In recent years, modifications of established (PET)/CT criteria have been proposed to provide more refined approaches towards response evaluation. Not only a comprehensive inclusion of PET-based response criteria in prospective randomized controlled trials, but also a general harmonization within the variety of PET-based response criteria is pertinent to strengthen clinical implementation and widespread use of hybrid imaging for response assessment in NSCLC.Cortical subarachnoid hemorrhage is an infrequent subtype of non-aneurysmal subarachnoid hemorrhage, rarely reported in watershed territories (wSAH) after carotid stenting. It has never been reported after treatment of middle cerebral artery stenosis (MCAS) that is increasingly used in selected patients, as rescue treatment of failed mechanical thrombectomy, due to recent advancements in endovascular interventions. We present a series of patients with MCAS that developed a wSAH after stenting.
To review long-term outcomes for chronic otitis media with and without cholesteatoma in staged canal-wall-up tympanoplasty with temporary silastic sheeting and to compare hearing and recurrence results with the literature.

Retrospective data analysis of all patients suffering from chronic otitis media with or without cholesteatoma (COMC/COM) and treated by staged canal-wall-up (CWU) technique with silastic insertion between 1992 and 2012. Literature analysis in PubMed 1990-2017.

74 cases were included in the analysis. In COMC (n = 47) a total of 2 (4%) recurrent and 14 (30%) residual cholesteatoma were documented. The postoperative hearing test showed a pure-tone-average (PTA) of 36dB hearing level (HL) and an air-bone-gap (ABG) of 21dB HL. A significant improvement was only observed for stage I disease (PTA 8dB HL and ABG 9dB HL). In COM (n = 27) postoperative PTA and ABG were significantly improved by 33dB HL and 23dB HL, respectively. Mean postoperative follow-up was 47months (12-173) for COMC and 22months (2-120) for COM.

The cholesteatoma recurrence rate in this study reflects contemporary published rates. Assessment of hearing outcome is difficult due to the low number of cases and very high heterogeneity of published data. Still, the staged CWU procedure with temporary silastic sheeting seems to bear some advantages in regard to hearing. The role of additional factors such as Eustachian Tube function to assess outcome should be considered. An internationally agreed upon reporting system should be followed, if various surgical approaches are to be compared.

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In response to the coronavirus pandemic, a tertiary combined Laryngology-Speech Therapy voice clinic was converted to a wholly virtual clinic, with consultations carried out via telephone or video. The aim of our mixed method study was to assess (a) how effective are virtual clinics vs face-to-face clinics in progressing patients' care and (b) what is patient satisfaction with virtual consultation methods.

Analysis of clinic data from patient databases for both virtual and face-to-face clinics was carried out. A patient satisfaction survey was carried out by 75 of the patients who had attended virtual clinics.

There was statistically a significant difference (p value < 0.01) in the proportion of patients prescribed medical therapy, referred for Speech and Language Therapy (SALT) or listed for surgery in the virtual clinic by comparison to the face-to-face clinic. 75 patients completed the questionnaire. 98% of patients were satisfied overall with the virtual method of consultation. 84% believed they oups have been identified as particularly benefiting. Going forward, an ideal clinic may be a hybrid of face-to-face and virtual appointments as clinically indicated.
Salivary gland carcinomas (SGC) cover a heterogeneous group of malignancies with a lack of data of high-level evidence.

Clinical data of 127 patients treated for SGC at a university cancer center between 2002 and 2017 were analyzed retrospectively. The association of clinicopathological characteristics, treatment modalities, adverse events, and outcome was assessed.

Patients received surgery (n = 65), surgery followed by (chemo-)radiotherapy (n = 56), or primary (chemo-)radiotherapy (n = 6). Injury to the cranial nerves or their branches was the most frequent surgical complication affecting 40 patients (33.1%). Ten year overall and progression-free survivalrates were 73.2% and 65.4%, respectively. Parotid tumor site, advanced tumor, and positive nodal stage remained independent negative prognostic factors for overall survival, loco-regional and distant tumor control in multivariate analysis.

Optimizing treatment strategies for SGC, depending on distinct clinicopathological factors, remains challenging due to the low incidence rates of the disease.
Optimizing treatment strategies for SGC, depending on distinct clinicopathological factors, remains challenging due to the low incidence rates of the disease.
To investigate the association between KRAS mutation and prognosis in rectal cancer patients with neoadjuvant chemoradiotherapy.

Literature was searched in the databases including Cochrane Library, EMBASE (Ovid), and MEDLINE (PubMed) from inception to December 16, 2020. The keywords "rectal cancer" or "rectal carcinoma" or "rectal adenocarcinoma" and "KRAS" and "neoadjuvant" were used for preliminary literature retrieval. Pooled odds ratios (ORs) and 95% confidence intervals (95%CIs) were calculated for the KRAS mutation and clinical outcomes including overall survival (OS), disease-free survival (DFS), pathologic complete remission (pCR), downstaging of T stages and tumor stages, as well as improvements in tumor regression grading (TRG). Publication bias was assessed by the funnel plots.

A total of 16 articles were included for eligibility. The total number of patients was 3674 cases, with an incidence of KRAS gene mutation of 36.6% (1346/3674). check details Meta-analysis showed that the pooled OR for KRAS mutation on OS was 1.33 (95%CI 113-1.56). Consistently, results also indicated that the KRAS mutant was related to the poor DFS (pooled OR=1.55, 95%CI 1.19-2.02). However, KRAS mutation is not related to the PCR (pooled OR= 0.71, 95%CI 0.44-1.14), downstaging in T stages (pooled OR= 0.66, 95%CI 0.42-1.06), tumor stages (pooled OR= 1.18, 95%CI 0.78-1.78, I2=12.9%), as well as improvement in TRG grades (pooled OR= 0.84, 95%CI 0.59-1.20).

KRAS mutation is a predictor for the poor prognosis of neoadjuvant chemoradiotherapy in patients with rectal cancer, but it is not related to the responses of tumors after treatment.
KRAS mutation is a predictor for the poor prognosis of neoadjuvant chemoradiotherapy in patients with rectal cancer, but it is not related to the responses of tumors after treatment.
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