Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the –α3.7/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling

Hb Adana (HBA2: c.179G>A) is found worldwide but is extremely rare and carriers are asymptomatic, with red cell indices similar to α⁺-thalassemia (α⁺-thal) carriers. First line screening tests are unable to detect the unstable hemoglobin (Hb). Coinheritance with the α-thal (–α^3.7) deletion is herein presented and the challenges involving genetic counseling of couples carrying the mutations are discussed.     

Single-site port robotic-assisted hysterectomy: an update

Single-incision approach in robotic gynecology is a relatively new concept. The role of single-port systems in robotic hysterectomy, their advantages and disadvantages, as well as the technical challenges, are still under investigation. A systematic review was performed by searching in PubMed and Scopus databases. In 810 out of 1225 patients, hysterectomy was performed for non-neoplastic disease. Single-Site^® was the most common port system. Duration of the procedure and relative blood loss ranged from 60 to 311 min and 7 to 750 ml, respectively. The weight of the removed uteri ranged from 39 to 520 g. 4.9% of the included patients presented complications, among which bleeding, vaginal haematoma, laceration and dehiscence, umbilical hernia, and visceral injuries. Conversion rate to laparotomy reached 2.8%. Although some technical difficulties are still described in the literature, the single-port approach is becoming more standardized nowadays and performed by more surgeons. The initial phase of the learning curve can be achieved after five cases, while a proficiency in intracorporeal cuff suturing after 14 cases. Uterus weight and previous abdominal surgical history can still be limitations of the technique. Compared to our previous study, we can see that the technique has been used in more elderly or obese patients. The complication rate can reach 4.9% while the conversion rate can reach 2.8%. However, we consider that complication and conversion rates as well as surgical time could be improved with experience. Regarding post-operative pain and cosmetic outcomes, the lack of information do not allow us to draw any safe conclusions.     

Model selection based on combined penalties for biomarker identification

The growing role of targeted medicine has led to an increased focus on the development of actionable biomarkers. Current penalized selection methods that are used to identify biomarker panels for classification in high-dimensional data, however, often result in highly complex panels that need careful pruning for practical use. In the framework of regularization methods, a penalty that is a weighted sum of the L₁ and L₀ norm has been proposed to account for the complexity of the resulting model. In practice, the limitation of this penalty is that the objective function is non-convex, non-smooth, the optimization is computationally intensive and the application to high-dimensional settings is challenging. In this paper, we propose a stepwise forward variable selection method which combines the L₀ with L₁ or L₂ norms. The penalized likelihood criterion that is used in the stepwise selection procedure results in more parsimonious models, keeping only the most relevant features. Simulation results and a real application show that our approach exhibits a comparable performance with common selection methods with respect to the prediction performance while minimizing the number of variables in the selected model resulting in a more parsimonious model as desired.     

Regenerative Zellen aus Eigenfett

Journal für Ästhetische Chirurgie - Fett bietet neben seinem volumisierenden Effekt ein reichhaltiges Reservoir für regenerative Zellen, die eine wichtige Rolle für den Einbau...     

Long-term findings on brain magnetic resonance imaging in acute encephalopathy with bilateral striatal necrosis associated with measles

The long-term findings on brain magnetic resonance imaging (MRI) in a 7 10/12-year-old boy with a history of acute encephalopathy with bilateral striatal necrosis following measles at the age of 22 months are described. At the early stage of illness, brain MRI studies revealed bilateral, symmetric basal ganglia lesions, predominant on the globi pallidi, appearing as hyperintense signals on T1- and T2-weighted images. Six years later, follow-up brain MRI studies showed that the bilateral, symmetric lesions on the globi pallidi persisted with low signal on T1- and high signal on T2 weighted images. At present, the patient has some persistent neurologic signs. These findings suggest that both clinical and neuroradiologic findings may persist in children with acute encephalopathy with bilateral striatal necrosis following measles.     

Assessment of a new immunocytochemical technique in HbF-cell counting by a novel objective evaluation method

A recently developed immunocytochemical technique in HbF-cell counting was assessed by an objective evaluation method. The basic principle of this method is the preparation of aliquots with predetermined HbF-cell (target) values. These aliquots serve as control samples to standardize the HbF-cell measurements by the new immunocytochemical technique, which uses the StreptABComplex/AP staining procedure (SAP) and visualization under white light. Immunofluorescence optical counts (IF) were performed in parallel with the new technique. A trend of inaccuracy was observed in low target values for both methods. As the level of target values increased, deviations became insignificant (relative accuracy < 8%) with SAP having slightly better results. Linear regression data of the estimated %HbF-cell rates by the two methods versus the target values were very satisfactory for both methods with SAP being slightly better. SAP seems to provide an accurate and reliable alternative for HbF-cell estimation comparable with the classical IF optical count.