Telemedicine for Facio-Scapulo-Humeral Muscular Dystrophy: A multidisciplinary approach to improve quality of life and reduce hospitalization rate?

Background

Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by a variable and asymmetric involvement of facial, trunk, upper and lower extremity muscles. Although respiratory weakness is a relatively unknown feature of FSHD, it is not rare. Telemedicine has been used in a variety of health care fields, but only recently, with the advent of sophisticated technology, its interest among health professionals became evident, even in such diseases.

Notch signaling as a therapeutic target for acute lymphoblastic leukemia

Introduction: Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy. Although the therapy of ALL has significantly improved, the heterogeneous genetic landscape of the disease often causes relapse, which is difficult to treat. Achieving a positive outcome for patients with relapsed or refractory ALL remains a challenging issue. The high prevalence of NOTCH-activating mutations in T-cell acute lymphoblastic leukemia (T-ALL) and the central role of NOTCH signaling in regulating cell survival and growth of ALL provide a rationale for the development of Notch signaling-targeted strategies in this disease. Therapeutic alternatives with effective anti-leukemic potential and low toxicity are needed.

Areas covered: This review provides an overview of the currently available drugs directly or indirectly targeting Notch signaling in ALL. Besides considering the known Notch targeting approaches, such as γ-secretase inhibitors (GSIs) and Notch inhibiting antibodies (mAbs), currently in clinical trials, we focus on the recent insights into the molecular mechanisms underlying the Notch signaling regulation in ALL.

Expert opinion: Novel drugs targeting specific steps of Notch signaling or intersecting pathways could improve the efficiency of the conventional hematological cancers therapies. Further studies are required to translate the new findings into future clinical applications.     

Middle meningeal artery embolization with subdural evacuating port system for primary management of chronic subdural hematomas

Neurosurgical Review - Optimal treatment for chronic subdural hematomas remains controversial and perioperative risks and comorbidities may affect management strategies. Minimally invasive...     

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review

Neurological Sciences - An increasing number of cases of comorbid hereditary spastic paraplegia (HSP) and multiple sclerosis (MS) have been described. We report a patient with the SPG3A form of HSP...     

Die postoperative Prognose des chromophoben Nierenzellkarzinoms

Background

The chromophobe subtype represents the third most common histological subtype of renal cell carcinoma (chRCC). Due to the rarity of this subtype only one publication regarding the specific analysis of clinical and histopathological criteria as well as survival analysis of more than 200 patients with chRCC is known to date.

Materials and methods

A total of 6,234 RCC patients from 11 centres who were treated by (partial) nephrectomy are contained in the database of this multinational study. Of the patients 259 were diagnosed with chRCC (4.2?%) and thus formed the study group for this retrospective investigation. These subjects were compared to 4,994 patients with a clear cell subtype (80.1?%) with respect to clinical and histopathological criteria. The independent influence of the chromophobe subtype regarding tumor-specific survival and overall survival was determined using analysis by Cox proportional hazards regression models. The median follow-up was 59 months (interquartile range 29-106 months).

Results

The chRCC patients were significantly younger (60 vs. 63.2 years, p?<?0.001), more often female (50 vs. 41?%, p?=?0.005) and showed simultaneous distant metastases to a lesser extent (3.5 vs. 7.1?%, p?=?0.023) compared to patients with a clear cell subtype. Despite a comparable median tumor size a ≥?pT3 tumor stage was diagnosed in only 24.7?% of the patients compared to of 30.5?% in patients with a clear cell subtype (p?=?0.047). In addition to the clinical criteria of age, sex and distant metastases, the histological variables pTN stage, grade and tumor size showed a significant influence on tumor-specific and overall survival. However, in the multivariable Cox regression analysis no independent effect on tumor-specific mortality (HR 0.88, p?=?0.515) and overall mortality (HR 1.00, p?=?0.998) due to the histological subtype was found (c-index 0.86 and 0.77, respectively).

Conclusions

Patients with chRCC and clear cell RCC differ significantly concerning the distribution of clinical and histopathological criteria. Patients with chRCC present with less advanced tumors which leads to better tumor-specific survival rates in general; however, this advantage could not be verified after adjustment for the established risk factors.     

Synchronous Bilateral Adrenalectomy for Cushing’s Syndrome: Laparoscopic Versus Posterior Retroperitoneoscopic Versus Robotic Approach

Background

Synchronous endoscopic bilateral adrenalectomy (BilA) can effectively provide definitive cure of hypercortisolism in ACTH-dependent Cushing’s syndrome and in primary adrenal bilateral disease. We compared three different approaches for BilA: transabdominal laparoscopic BilA (TL-BilA), simultaneous posterior retroperitoneoscopic BilA (PR-BilA), and robot-assisted BilA (RA-BilA).

Methods

All patients who underwent BilA between January 1999 and December 2012 at two referral centers (one performing TL-BilA and PR-BilA and one performing RA-BilA) were included. A comparative analysis was performed.

Results

Twenty-nine patients were included: 5 underwent TL-BilA, 11 underwent PR-BilA, and 13 underwent RA-BilA. No significant difference was found concerning age, gender, diagnosis, and previous abdominal surgery. No conversion to open approach was registered. Operative time was significantly shorter for the PR-BilA group than for the TL-BilA and RA-BilA groups (157.4 ± 54.6 vs 256.0 ± 43.4 vs 221.5 ± 42.2 min, respectively) (P < 0.001). No significant difference was found concerning intraoperative and postoperative complications rate and time to first flatus. Drains were used routinely after PR-BilA and TL-BilA and electively in four RA-BilA patients (P < 0.001). Hospital stay was longer in the TL-BilA and PR-BilA groups than in the RA-BilA group (12.0 ± 5.7 vs 10.8 ± 3.7 vs 4.4 ± 1.7 days, respectively) (P < 0.001). No recurrence or disease-related death was registered.

Conclusions

Operative time was significantly shorter in the PR-BilA group, because it eliminates the need to reposition the patient. The number of drains and the length of hospital stay were reduced after RA-BilA, but this was likely related to different management protocols in different settings. Because no significant difference was found in terms of postoperative outcome, none of the three operative approaches can be considered the preferable one.     

Elman neural network for the early identification of cognitive impairment in Alzheimer’s disease

Early detection of dementia can be useful to delay progression of the disease and to raise awareness of the condition. Alterations in temporal and spatial EEG markers have been found in patients with Alzheimer’s disease (AD) and mild cognitive impairment (MCI). Herein, we propose an automatic recognition method of cognitive impairment evaluation based on EEG analysis using an artificial neural network (ANN) combined with a genetic algorithm (GA). The EEGs of 43 AD and MCI patients (aged between 62 and 88 years) were recorded, analyzed and correlated with their MMSE scores. Quantitative EEGs were calculated using discrete wavelet transform. The data obtained were analyzed by the means of the combined use of ANN and GA to determine the degree of cognitive impairment. The good recognition rate of ANN fed with these inputs suggests that the combined GA/ANN approach may be useful for early detection of AD and could be a valuable tool to support physicians in clinical practice.     

Results of a comparative study analyzing octogenarians with renal cell carcinoma in a competing risk analysis with patients in the seventh decade of life

ObjectivesTo analyze clinicopathological features and survival of surgically treated patients with renal cell carcinoma (RCC)≥80 years of age in comparison with patients between the ages of 60 and 70 years.Materials and methodsThe data for 2,516 patients with a median follow-up of 57 months were retrieved from a multinational database (Collaborative Research on Renal Neoplasms Association [CORONA]), including data for 6,234 consecutive patients with RCC after radical or partial nephrectomy. Comparative analysis of clinicopathological features of 241 octogenarians (3.9% of the database) and 2,275 reference patients between the ages of 60 and 70 years (36.5%) was performed. Multivariable regression analysis adjusted for competing risks was applied to identify the effect of advanced age on cancer-specific mortality (CSM) and other-cause mortality (OCM). Furthermore, instrumental variable analysis was employed to reduce residual confounding by unmeasured parameters.ResultsSignificantly more women were present (50% vs. 40%, P = 0.004), and significantly less often nephron-sparing surgery was performed in octogenarians compared with the reference group (11% vs. 20%, P<0.001). Although median tumor size and stages did not significantly defer, older patients less often had advanced or metastatic disease (N+/M1) (4.6% vs. 9.6%, P = 0.009). On multivariable analysis, higher CSM (hazard ratio = 1.48, P = 0.042) and OCM rates (hazard ratio = 4.32, P<0.001) were detectable in octogenarians (c-indices = 0.85 and 0.72, respectively). Integration of the variable age group in multivariable models significantly increased the predictive accuracy regarding OCM (6%, P<0.001), but not for CSM. Limitations are based on the retrospective study design.ConclusionsOctogenarian patients with RCC significantly differ in clinical features and display significantly higher CSM and OCM rates in comparison with their younger counterparts.