11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

BACKGROUND: Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available, allowing the implementation in a diagnostic service laboratory. We report the diagnostic yield in a series of 132 subjects with mental retardation, and the associated clinical phenotypes. METHODS: We applied commercially available subtelomeric fluorescence in situ hybridization (FISH). All patients referred for subtelomeric screening in a 5-year period were reviewed and abnormal cases were further characterized clinically and if possible molecularly. RESULTS: We identified nine chromosomal rearrangements (two of which were in sisters) corresponding to a diagnostic yield of approx. 7%. All had dysmorphic features. Five had imbalances leading to recognizable phenotypes. CONCLUSION: Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

Microdeletion of the 17q23.2 region has very recently been suggested as a new emerging syndrome based on the finding of 8 cases with common phenotypes including mild-to-moderate developmental delay, heart defects, microcephaly, postnatal growth retardation, and hand, foot, and limb abnormalities. In this report, we describe two new 17q23.2 deletion patients with mild intellectual disability and sensorineural hearing loss. They both had submicroscopic deletions smaller than the common deleted region for the 8 previously described 17q23.2 microdeletion cases. TBX4 was previously suggested as the responsible gene for the heart or limb defects observed in 17q23.2 deletion patients, but the present cases do not have these features despite deletion of this gene. The finding of sensorineural hearing loss in 5 of the 10 cases, including the present cases, with a microdeletion at17q23.2, strongly suggests the presence of a candidate gene for hearing loss within this region. We screened 41 patients with profound sensorineural hearing loss for mutations of TBX2 and detected no mutations

Asynchronous readers and asynchronous writers

Reading and writing is modelled in CSP using actions containing the symbols? and!. These reading actions and writing actions are synchronous, and there is a one-to-one relationship between occurrences of pairs of these actions. In the CPA conference 2016, we introduced the half-synchronous alphabetised parallel operator X ↓ Y, which disconnects the writing to and reading from a channel in time. We introduce in this paper an extension of X ↓ Y, where the definition of X ↓ Y is relaxed; the reading processes are divided into sets which are set-wise asynchronous, but intra-set-wise synchronous, giving full flexibility to the asynchronous writes and reads. Furthermore, we allow multiple writers to the same channel and we study the impact on a Vertex Removing Synchronised Product. The advantages we accomplish are that the extension of X ↓ Y gives more flexibility by indexing the reading actions and allowing multiple write actions to the same channel. Furthermore, the extension of X ↓ Y reduces the end-to-end processing time of the processor or coprocessor in a distributed computing system. We show the effects of these advantages in a case study describing a Controlled Emergency Stop for a processor-coprocessor combination

Cardiorespiratory fitness and physical function in children with cancer from diagnosis throughout treatment

Background: Children with cancer experience severe reductions in physical fitness and functionality during and following intensive treatment. This may negatively impact their quality of life. Purpose: To describe the physical capacity and functionality of children with cancer during and after treatment as well as the feasibility of physical activity intervention in the Rehabilitation including Social and Physical activity and Education in Children and Teenagers with Cancer study. Patients and methods: The study included children diagnosed from January 2013 to April 2016 with paediatric cancer or Langerhans cell histiocytosis, all treated with chemotherapy. Seventy-five of 78 consecutively eligible children (96.2%) were included. Median age was 11 years (range 6‒18). The physical capacity and function were assessed based on testing of physical strength, balance and cardiorespiratory fitness. Children were tested at diagnosis, 3 and 6 months after diagnosis and 1 year after cessation of treatment. The feasibility evaluation was inspired by the criteria for reporting the development and evaluation of complex interventions in healthcare. Results: All children participated in the physical intervention programme with no dropouts. Strenuous physical exercise and physiological testing during paediatric cancer treatment was safe and feasible, with only five minor adverse events during the intervention. Cardiorespiratory fitness was significantly lower in children with cancer than norms for healthy age-matched children at diagnosis (difference 19.1 mL/kg/min, 95% CI 15.4 to 22.7; p <0.0001), during treatment 3 and 6 months from diagnosis (difference 21.0 mL/kg/min, 95% CI 17.4 to 24.6; p <0.0001 and difference 21.6 mL/kg/min, 95% CI 17.3 to 25.8; p <0.0001, respectively) and 1 year after cessation of treatment (difference 6.9 mL/kg/min, 95% CI 1.1 to 12.7; p <0.0072). Furthermore, children with cancer experienced a pronounced decline in physical function. Conclusion: This study shows that it is safe and feasible to perform strenuous physical exercise and testing during paediatric cancer treatment and that children with cancer have significantly lower physical capacity and functionality than healthy age-matched norms

Spontaneous Retroperitoneal and Rectus Sheath HemorrhageManagement, Risk Factors and Outcomes

BackgroundSpontaneous retroperitoneal and rectus sheath hemorrhage (SRRSH) is associated with high mortality in the literature, but studies on the subject are lacking. The objective of this study was to identify early predictors of the need for angiographic or surgical intervention (ASI) in patients with SRRSH and define risk factors for mortality.MethodsWe conducted a retrospective cohort study at a tertiary academic hospital. All patients with computed tomography-identified SRRSH between 2012 to 2017 were included. Exclusion criteria were age below 18years, possible mechanical cause of SRRSH, aortic aneurysm rupture or dissection, and traumatic or iatrogenic sources of SRRSH. The primary outcome was the incidence of ASI and/or mortality.ResultsOf 100 patients included (median age 70years, 52% males), 33% were transferred from another hospital, 82% patients were on therapeutic anticoagulation, and 90% had serious comorbidities. Overall mortality was 22%, but SRRSH-related mortality was only 6%. Sixteen patients underwent angiographic intervention (n=10), surgical intervention (n=5), or both (n=1). Flank pain (OR 4.15, 95% CI 1.21-14.16, p=0.023) and intravenous contrast extravasation (OR 3.89, 95% CI 1.23-12.27, p=0.020) were independent predictors of ASI. Transfer from another hospital (OR 3.72, 95% CI 1.30-10.70, p=0.015), age above 70years (OR 4.24, 95% CI 1.25-14.32, p=0.020), and systolic blood pressure below 110mmHg at the time of diagnosis (OR 4.59, 95% CI 1.19-17.68, p=0.027) were independent predictors of mortality.ConclusionsSRRSH is associated with high mortality but is typically not the direct cause. Most SRRSHs are self-limited and require no intervention. Pattern identification of ASI is hard