Deep Perceptual Enhancement for Medical Image Analysis.

Due to numerous hardware shortcomings, medical image acquisition devices are susceptible to producing low-quality (i.e., low contrast, inappropriate brightness, noisy, etc.) images. Regrettably, perceptually degraded images directly impact the diagnosis process and make the decision-making manoeuvre of medical practitioners notably complicated. This study proposes to enhance such low-quality images by incorporating end-to-end learning strategies for accelerating medical image analysis tasks. To the best concern, this is the first work in medical imaging which comprehensively tackles perceptual enhancement, including contrast correction, luminance correction, denoising, etc., with a fully convolutional deep network. The proposed network leverages residual blocks and a residual gating mechanism for diminishing visual artefacts and is guided by a multi-term objective function to perceive the perceptually plausible enhanced images. The practicability of the deep medical image enhancement method has been extensively investigated with sophisticated experiments. The experimental outcomes illustrate that the proposed method could outperform the existing enhancement methods for different medical image modalities by 5.00 to 7.00 dB in peak signal-to-noise ratio (PSNR) metrics and 4.00 to 6.00 in DeltaE metrics. Additionally, the proposed method can drastically improve the medical image analysis tasks' performance and reveal the potentiality of such an enhancement method in real-world applications.

Deep color reconstruction for a sparse color sensor.

Despite the advances in image sensors, mainstream RGB sensors are still struggling from low quantum efficiency due to the low sensitivity of the Bayer color filter array. To address this issue, a sparse color sensor uses mostly panchromatic white pixels and a smaller percentage of sparse color pixels to provide better low-light photography performance than a conventional Bayer RGB sensor. However, due to the lack of a proper color reconstruction method, sparse color sensors have not been developed thus far. This study proposes a deep-learning-based method for sparse color reconstruction that can realize such a sparse color sensor. The proposed color reconstruction method consists of a novel two-stage deep model followed by an adversarial training technique to reduce visual artifacts in the reconstructed color image. In simulations and experiments, visual results and quantitative comparisons demonstrate that the proposed color reconstruction method can outperform existing methods. In addition, a prototype system was developed using a hybrid color-plus-mono camera system. Experiments using the prototype system reveal the feasibility of a very sparse color sensor in different lighting conditions.

Adult Langerhans cell histiocytosis: An unusual cause of referred knee pain.

Langerhans cell histiocytosis (LCH) in adults is rare and regarded as an 'orphan disease.' The systemic symptoms of LCH can mimic many other undifferentiated diseases seen at the primary care level. Failure to diagnose and delays in referral are common pitfalls in the management of this disease. We present a case of a 34-year-old woman with referred knee pain who was eventually diagnosed with multi-system LCH 4 years after the initial presentation. The mean age of presentation of LCH symptoms in adults is 33. Bone lesions are the frequent presentation of LCH in this age group. Endocrine involvement in LCH is seen in the form of diabetes insipidus (DI), which remains the most common extraskeletal presentation of LCH in adults. In the case discussed here, a definitive diagnosis of LCH was established through tissue biopsy. The spectrum of undifferentiated symptoms underscores the difficulty and delay in making a diagnosis associated with the condition. Most GPs not only face the predicament of initial recognition but also fail to merge presenting symptoms to form a purposeful referral of this elusive disease to a tertiary care unit.

Attitudes towards prenatal testing and termination of pregnancy in British Pakistani parents and relatives of children with recessive conditions in the UK.

OBJECTIVE: To compare British Pakistani parents' and their relatives' attitudes to prenatal testing (PND) and termination of pregnancy (TOP) for a range of conditions. METHOD: A total of 222 British Pakistani participants: 117 parents of children with a child with a genetic condition (52 fathers and 65 mothers) and 103 of their relatives (51 males and 52 females) completed a structured questionnaire about their attitudes toward PND and TOP for 30 different conditions. RESULTS: Parents were more accepting of PND (P < 0.001) and TOP (P < 0.001) than their relatives for most of the conditions. Male relatives were consistently least interested in PND and TOP, except for conditions at the serious end of the continuum, where over 90% would opt for PND for quadriplegia and anencephaly, and over 60% would opt for TOP for these conditions. CONCLUSION: The lower level of interest in PND and TOP in relatives, particularly men, may be due to lack of information disseminated by parents about their child's recessive inheritance and its implications for relatives, resulting in poor understanding of genetic risk. These findings highlight the need for the provision of proactive genetic counselling to raise awareness of genetic risk and facilitate informed reproductive decision-making in at-risk relatives.

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.