54 research outputs found
Experimental Assessment of Linear Sampling and Factorization Methods for Microwave Imaging of Concealed Targets
Shape reconstruction methods are particularly well suited for imaging of concealed targets. Yet, these methods are rarely employed in real nondestructive testing applications, since they generally require the electrical parameters of outer object as a priori knowledge. In this regard, we propose an approach to relieve two well known shape reconstruction algorithms, which are the linear sampling and the factorization methods, from the requirement of the a priori knowledge on electrical parameters of the surrounding medium. The idea behind this paper is that if a measurement of the reference medium (a medium which can approximate the material, except the inclusion) can be supplied to these methods, reconstructions with very high qualities can be obtained even when there is no information about the electrical parameters of the surrounding medium. Taking the advantage of this idea, we consider that it is possible to use shape reconstruction methods in buried object detection. To this end, we perform several experiments inside an anechoic chamber to verify the approach against real measurements. Accuracy and stability of the obtained results show that both the linear sampling and the factorization methods can be quite useful for various buried obstacle imaging problems
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
BACKGROUND: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. OBJECTIVE: A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families. RESULTS: We identified four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly. CONCLUSION: This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis
The effect of the facilitated tucking position in reducing vaccination-induced pain in newborns
Relationship between articular eminence inclination and alterations of the mandibular condyle: a CBCT study
Redating the formation of Lake Bafa, western Turkey: Integrative geoarchaeological methods and new environmental and dating evidence
The ancient Gulf of Latmos is an iconic example of a dynamic landscape and humankind's historical relationship with it. Using extensive new primary data and original models for calibrating radiocarbon dates in transitional lagoon environments, we demonstrate that Lake Bafa (or Bafa Gölü, in Turkish) formed at a much earlier date than previously thought. In questioning the logical process by which previous dates were achieved, we re‐examine the relationship between sedimentological data, archaeology and written history. We reassert the need to establish independently dated environmental data sets as the foundation of regional studies as distinct from archaeological and historical interpretive processes. We conclude that Lake Bafa slowly transitioned to become an isolated lagoon sometime between the end of the second millennium B.C. and end of the first millennium B.C.; becoming a fully closed brackish lake during the second millennium A.D. This marks a major shift in our understanding of the nature of human occupation and activity here during the last four millennia but also in the way we date ancient lagoons and integrate historical and environmental data in general
Radiotherapy-Related Tumour Lysis Syndrome in a Patient with Metastatic Adenocarcinoma of Unknown Origin
Tumour lysis syndrome (TLS) is a rare but serious complication of cancer treatment. It is generally seen in patients with high tumour load or chemosensitive tumour after chemotherapy and is more common with haematological malignancies like leukaemia and lymphoma when compared to solid tumours. TLS occurring after radiotherapy (RT) in patients with solid tumours is very rare. We aimed to present TLS seen after RT for a vertebral tumoral mass in a patient with metastatic adenocarcinoma of unknown origin. A 78-year-old woman, who was diagnosed with adenocarcinoma of unknown origin, was hospitalized to undergo palliative RT for the vertebral mass. On the 1st day, 4 mg q6hour perioral dexamethasone was started. 300 cGy per session RT started on the 2nd day of hospitalization. After the fifth session of RT (after a total dose of 15 Gy), she developed TLS complicated with acute kidney injury requiring renal replacement therapy and she was successfully treated by haemodialysis. Close monitoring, even in patients with low risk for TLS and early administration of preventive modalities should be kept in mind
Polikistik over sendromlu hastalarda total ve lipid bağlı sialik asit seviyeleri
Objective: To evaluate serum total and lipid bound sialic acid (TSA&LBSA) levels in patients with polycystic ovary syndrome (PCOS). Material and Methods: Forty women with PCOS and 35 healthy controls were enrolled in the study. Serum TSA, LBSA, follicle stimulating hormone, lutenizing hormone, estradiol, thyroid stimulating hormone, prolactin, dehydroepiandrosterone sulphate, androstenedione, free testosterone, total testosterone, 17-OH progesterone, sex hormone binding globulin, cortisol, total cholesterol, triglyceride, high density lipoprotein and low density lipoprotein were measured in each subject. Insulin resistance was estimated by fasting insulin level, fasting glucose: insulin ratio and 75-g glucose tolerance test for 2 hours. Results: Serum TSA levels were not significantly different between the groups. Serum LBSA levels were higher in patients with PCOS compared to the control group. TSA was correlated with androstenedione and HOMA-IR in the PCOS group. Positive correlations were found between LBSA and dehydroepiandrosterone sulphate in patients with PCOS. After correction for BMI, the only existing significant correlation was between LBSA and follicle stimulating hormone. Conclusion: Serum LBSA levels, which has previously been found to be higher in cardiovascular diseases and diabetes mellitus, are elevated in PCOS. © 2012 by the Turkish-German Gynecological Education and Research Foundation
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