bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region
Authors: Melis Daniela , Genesio Rita , Boemio Pasquale , Del Giudice Ennio , Cappuccio Gerarda , Mormile Angela , Ronga Valentina , Conti Anna , Imperati Floriana , Nitsch Lucio , Andria Generoso 
Published: March 2012

AbstractHaploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for hypoparathyroidism, sensorineural deafness, and renal anomalies (HDR syndrome). Haploinsufficiency of a more proximal region, located on 10p13‐10p14, designated as DGCR2 is associated with congenital heart defects and thymus hypoplasia/aplasia or T cell defect. We describe a patient showing facial dysmorphisms, delayed psychomotor development and bilateral sensorineural hearing loss and carrying a 10p14 deletion, the smallest deletion found in the literature so far. Our patient, carrying a partial deletion of the DGCR2 region and of the HDR1 region, including the GATA3 gene, showed, unexpectedly, only few of the clinical features of DiGeorge 2 syndrome (psychomotor retardation, palpebral ptosis, epicanthic folds, anteverted nares, cryptorchidism, hand/foot abnormalities) and did not show other typical signs, such as cardiac defect, cleft palate, and abnormal T cell levels. Of the three characteristic features of the HDR syndrome, our patient had only sensorineural deafness. On the basis of the revision of the other cases reported in the literature with a deletion including the 10p14 region, we suggest that GATA3 haploinsufficiency, although not recorded for each patient, is responsible for deafness. The present case shows that even this small 10p deletion is responsible for a specific phenotype. We also underline the importance of CGH‐array, in order to obtain a more precise physical mapping of the 10p deletions and an accurate genotype–phenotype correlation. © 2012 Wiley Periodicals, Inc.
A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain
Authors: Hu Ching‐Hsuan , Liu Yu‐Fan , Yu Ju‐Shan , Ng Yan‐Yan , Chen Suh‐Jen , Su Pen‐Hua , Chen Jia‐Yuh 
Published: March 2012

AbstractMutations in the MID1 gene result in X‐linked Opitz G/BBB syndrome (OS), a disorder that affects development of midline structures and comprises hypertelorism, cleft lip/palate, hypospadias, and laryngo‐tracheo‐esophageal abnormalities, and, at times, neurological, anal, and cardiac defects. MID1 gene abnormalities include missense, nonsense, and splicing mutations, small insertions, small deletions, and complex rearrangements. Here, we present a patient with Opitz G/BBB syndrome and a unique MID1 gene point mutation c.1703T<C (p. Ile568Thr) in exon 10. This mutation was located in the loop between β5 and β6 beta pleated sheets in the SPRY domain. According to our 3D models based on the PRY‐SPRY domain of the human TRIM72, the I568T mutation altered the conformation in the loops between β5 and β6 and between β7 and β8. Thus, the I568T mutation altered the conformation of surface B of the binding pocket and may affect the binding affinity to the PRY domain. © 2012 Wiley Periodicals, Inc.
Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous CHST14 mutation
Authors: Voermans N.C. , Kempers M. , Lammens M. , van Alfen N. , Janssen M.C. , Bönnemann C. , van Engelen B.G. , Hamel B.C. 
Published: March 2012

AbstractWe here report on a 20‐year‐old female patient with EDS due to a homozygous CHST14 single nucleotide deletion resulting in D4ST‐1 deficiency, accompanied by muscle hypoplasia and muscle weakness. Findings of muscle ultrasound, electromyography, and muscle biopsy pointed to a myopathy, similarly as in other EDS types. This myopathy probably contributes to the gross motor developmental delay in this type of EDS. © 2012 Wiley Periodicals, Inc.
Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature
Authors: Motobayashi Mitsuo , Nishimura‐Tadaki Akira , Inaba Yuji , Kosho Tomoki , Miyatake Satoko , Niimi Taemi , Nishimura Takafumi , Wakui Keiko , Fukushima Yoshimitsu , Matsumoto Naomichi , Koike Kenichi 
Published: March 2012

Abstract2q23.1 microdeletion syndrome is a recently characterized chromosomal aberration disorder uncovered through array comparative genomic hybridization (array CGH). Although the cardinal feature is intellectual disability (ID), neurodevelopmental features of the syndrome have not been systematically reviewed. We present a 5‐year‐old boy with severe psychomotor developmental delay/ID, progressive microcephaly with brain atrophy, growth retardation, and several external anomalies. He manifested intractable epilepsy, effectively treated with combined antiepileptic drug therapy including topiramate. Array CGH demonstrated a de novo interstitial deletion of approximately 1 Mb at 2q23.1–q23.2, involving four genes including MBD5. Nineteen patients have been reported to have the syndrome, including present patient. All patients whose data were available had ID, 17 patients (89%) had seizures, and microcephaly was evident in 9 of 18 patients (50%). Deletion sizes ranged from 200 kb to 5.5 Mb, comprising 1–15 genes. MBD5, the only gene deleted in all patients, is considered to be responsible for ID and epilepsy. Furthermore, the deletion junction was sequenced for the first time in a patient with the syndrome; and homology of three nucleotides, identified at the distal and proximal breakpoints, suggested that the deletion might have been mediated by recently‐delineated genomic rearrangement mechanism Fork Stalling and Template Switching (FoSTeS)/microhomology‐mediated break‐induced replication (MMBIR). © 2012 Wiley Periodicals, Inc.
Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array‐CGH in three related patients
Authors: Szabó Gabriella P. , Knegt Alida C. , Ujfalusi Anikó , Balogh Erzsébet , Szabó Tamás , Oláh Éva 
Published: March 2012

AbstractCryptic subtelomeric chromosomal aberrations are responsible for 5–10% of moderate/severe and 1% of mild intellectual disability. Unbalanced subtelomeric chromosomal rearrangements result in variable phenotypes which seem to be highly influenced by both the size of the duplication/deletion and the chromosomes involved in the translocation. We report on three related patients with moderate intellectual disability, language delay, hypotonia, facial dysmorphism, cardiac anomalies, scoliosis, and kyphosis in whom a familial (maternal) unbalanced submicroscopic translocation was found by subtelomeric fluorescence in situ hybridization (FISH). This rearrangement resulted in a partial trisomy 10pter and partial monosomy 21qter. The karyotype was 46,XY.ish der(21)t(10;21)(p14;q22.2). Confirmation of a 6.7 Mb size distal duplication of the p15.3–14 region of chromosome 10 and a 5.6 Mb distal deletion of the q22.2–22.3 region of chromosome 21 was obtained by array‐CGH. To our best knowledge, such a composition of subtelomeric unbalanced translocations has not yet been published. Detection of this aberration in successive pregnancies of carrier members of the family by prenatal FISH could prevent the recurrence of the disease. Furthermore, detection of the rearrangements and identification of genes located in the chromosomal regions involved might be of interest. © 2012 Wiley Periodicals, Inc.
Neonatal detection of 5p13.2 duplication and delineation of the phenotype
Authors: Romero M. Carmen Carrascosa , Hoyo Rosa García , Calvente María , Cano María Baquero , Castillo Llanos González , Suela Javier 
Published: March 2012

AbstractA newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array‐CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description. © 2012 Wiley Periodicals, Inc.
Male sex bias in placental dysfunction
Authors: Murji Ally , Proctor Leslie K. , Paterson Andrew D. , Chitayat David , Weksberg Rosanna , Kingdom John 
Published: March 2012

AbstractSeveral reports suggest a male fetal preponderance in a variety of complications of pregnancy attributable to severe placental dysfunction (SPD). However, the underlying mechanisms remain unknown. Our primary objective was to explore the relationship between fetal sex and the spectrum of conditions implicated in abnormal placentation. We identified singleton pregnancies with a fetus delivered between 20 + 0 and 32 + 6 weeks of gestation with one or more pregnancy complications attributed to SPD (severe pre‐eclampsia, intra‐uterine fetal death, intra‐uterine growth restriction, abnormal Doppler studies, abruption) at a single institution between 1999 and 2007. Pedigrees of index cases were created to define the relationship between fetal sex and the risk of SPD. We identified 132 index cases, 97/132 (73%) were male. Eighty‐four index cases had a total of 133 sibs, of which 37/133 (28%) were affected with SPD (22 male, 15 female). A male sex preponderance persisted across all manifestations of PD in index cases with sibs. In families with the absence of maternal chronic hypertension (cHTN; n = 70), the index case was 5.9 (95% CI 2.28–16.15;P <0.001) times more likely to be male and most (12/14) affected sibs of male index cases were male, while female index cases had no affected sibs. Our results confirm a male fetal sex preponderance in SPD. In a subgroup analysis of families without cHTN, a significant male bias was found to extend to sibs of index cases. This suggests a potential genetic mechanism predisposing the male fetus to abnormal placental development. © 2012 Wiley Periodicals, Inc.
Morvan syndrome: Clinical and serological observations in 29 cases
Authors: Irani Sarosh R. , Pettingill Philippa , Kleopa Kleopas A. , Schiza Natasa , Waters Patrick , Mazia Claudio , Zuliani Luigi , Watanabe Osamu , Lang Bethan , Buckley Camilla , Vincent Angela 
Published: March 2012

AbstractObjective:A study was undertaken to describe the clinical spectrum, voltage‐gated potassium channel (VGKC) complex antibody specificities, and central nervous system localization of antibody binding in 29 patients diagnosed with Morvan syndrome (MoS).Methods:Clinical data were collected using questionnaires. Radioimmunoassay, cell‐based assays, and mouse brain immunohistochemistry were used to characterize the serum antibodies.Results:Neuromyotonia (100%), neuropsychiatric features (insomnia 89.7%, confusion 65.5%, amnesia 55.6%, hallucinations 51.9%), dysautonomia (hyperhidrosis 86.2%, cardiovascular 48.3%), and neuropathic pain (62.1%) were the most common manifestations. A total of 93.1% of MoS patients were male. VGKC‐complex antibodies were present in 23 of 29 (79%) MoS patients at referral; 24 of 27 available sera had CASPR2, LGI1, or both CASPR2 and LGI1 antibodies (3 also with contactin‐2 antibodies). CASPR2 antibodies were generally higher titer than LGI1 antibodies. Tumors (41.4%), mainly thymomas, were associated with CASPR2 antibodies and a poor prognosis, whereas LGI1 antibodies were associated with serum hyponatremia. In brain tissue regions including the hypothalamus, raphe, and locus coeruleus, commercial antibodies to LGI1 bound to neuronal cell bodies including the antidiuretic hormone‐secreting and orexin‐secreting hypothalamic neurons, whereas CASPR2 commercial antibodies bound more often to the neuropil. MoS antibodies bound similarly, but there was evidence of additional antibodies in some sera that were not adsorbed by LGI1‐ or CASPR2‐expressing cells and bound to mouse Caspr2−/− tissue.Interpretation:MoS is clinically distinct from other VGKC‐complex antibody‐associated conditions, and usually is associated with high‐titer CASPR2 antibodies, often accompanied by lower‐titer LGI1 antibodies. CASPR2 and LGI1 antibodies bind to multiple brain regions, which helps to explain the multifocal clinical features of this disease, but other antibodies are likely to play a role in some patients and need to be characterized in future studies. ANN NEUROL 2012;
Atherosclerotic inferior mesenteric artery stenosis resulting in large intestinal hypoperfusion: A paradigm shift in the diagnosis and management of symptomatic chronic mesenteric ischemia
Authors: Lotun Kapildeo , Shetty Ranjith , Topaz On 
Published: March 2012

AbstractSymptomatic chronic mesenteric ischemia results from intestinal hypoperfusion and is classically thought to result from involvement of two or more mesenteric arteries. The celiac artery and superior mesenteric artery are most frequently implicated in this disease process, and their involvement usually results in symptoms of small intestinal ischemia. Symptomatic chronic mesenteric ischemia resulting predominantly from inferior mesenteric artery involvement has largely been overlooked but does gives rise to its own, unique clinical presentation with symptoms resulting from large intestinal ischemia. We present four patients with atherosclerotic inferior mesenteric artery stenosis with symptomatic chronic mesenteric ischemia that have unique clinical presentations consistent with large intestinal ischemia that resolved following percutaneous endovascular treatment of the inferior mesenteric artery stenosis. These cases represent a novel approach to the diagnosis and management of this disease process and may warrant a further subclassification of chronic mesenteric ischemia into chronic small intestinal ischemia and chronic large intestinal ischemia.© 2012 Wiley Periodicals, Inc.
Renal embolic protection devices improve blood flow after stenting for atherosclerotic renal artery stenosis
Authors: Paul Timir K. , Lee John H. , White Christopher J. 
Published: March 2012

AbstractObjectivesWe sought to measure angiographic renal frame counts (RFC), as a quantitative angiographic assessment of renal blood flow, to evaluate microvascular compromise due to atheroembolism associated with RAS.BackgroundAtheroembolism associated with renal artery stenting (RAS) has been implicated as a cause for worsening renal function following successful intervention. Use of a distal embolic protection device (EPD) during RAS has been shown to be safe with debris capture in a high percentage of cases. However, objective benefit for renal function with EPD has been difficult to demonstrate.MethodsA control group of 30 consecutive patients (33 kidneys) who underwent RAS without EPD were compared with 33 consecutive patients (33 kidneys) who underwent RAS with EPD using RFC measurement.ResultsThe prestent and poststent mean RFC for the control group was 30.4 ± 12.1 vs. 23.7 ± 9.9 (P = 0.002) and for the EPD group it was 42.6 ± 12.6 vs. 28.3 ± 9.2 (P < 0.0001). The EPD group had a greater improvement in renal blood flow, manifested by a greater reduction of the RFC (Δ RFC) 14.2 ± 15.2 vs. 6.7 ± 11.7 (P = 0.03) compared with the control group.ConclusionsThe use of an EPD was associated with a much larger improvement in renal blood flow (lower RFC) following RAS. This suggests that EPD's may be effective in preventing renal atheroembolic injury and that a controlled trial measuring the impact of EPD's on renal blood flow following RAS should be performed. © 2012 Wiley Periodicals, Inc.
Survey of diabetes risk assessment tools: concepts, structure and performance
Authors: Thoopputra Thitaporn , Newby David , Schneider Jennifer , Li Shu Chuen 
Published: March 2012

SummaryThe objective of this study is to review the effectiveness and limitations of existing diabetes risk screening tools to assess the need for further developing of such tools. An electronic search of the EMBASE, MEDLINE, and Cochrane library supplemented by a manual search was performed from 1995–2010. The search retrieved a total of 2168 articles reporting diabetes risk assessment tools which, after culling, produced 41 tools developed in 22 countries, with the majority (n = 26) developed in North America and Europe. All are short questionnaires of 2–16 questions incorporating common variables including age, gender, waist circumference, BMI, family history of diabetes, history of hypertension or antihypertensive medications. While scoring format and cut‐offs point are diverse between questionnaires, overall accuracy value range of 40‐97%, 24‐86% and 62‐87% were reported for sensitivity, specificity and receiver operating characteristic curve respectively. In summary, there is a trend of increasing availability of diabetes prediction tools with the existing risk assessment tools being generally a short questionnaire aiming for ease of use in clinical practice. The overall performance of existing tools showed moderate to high accuracy in their predictive performance. However, further detailed comparison of existing questionnaires is needed to evaluate whether they can serve adequately as diabetes risk assessment tool in clinical practice. Copyright © 2012 John Wiley & Sons, Ltd.
Reduced adsorption of propanil to black carbon: Effect of dissolved organic matter loading mode and molecule size
Authors: Xiao Xiaoyu , Li Feili , Huang Jiexun , Sheng G. Daniel , Qiu Yuping 
Published: March 2012

Abstract
In the present study, the reduced adsorption of propanil on black carbon (BC) influenced by dissolved organic matter (DOM) was verified to be closely related to DOM molecule size and loading mode. Two congenetic carbons, a rice-residue–derived BC and the reduced product (RC), were characterized by similar specific surface area and different surface properties. Reduced product exhibits higher adsorption of propanil and DOM than BC. A series of model DOMs, including tannic acid (TA), pentagalloylglucose (PA), 3-O-galloylmucic acid (OA), and gallic acid (GA), characterized by different molecule sizes and molecular weights, were used to evaluate the different inhibitory effects. The DOM adsorption (mmol/g) on BC and RC follows the order of GA &gt; PA &gt; OA &gt; TA, whereas the reduction of propanil adsorption influenced by the model DOM follows the order of PA ≈ TA &gt; OA ≈ GA. The suppressive degree is connected to their molecule sizes rather than to molecular weights. Tannic acid and PA weakened propanil adsorption more effectively than OA and GA because the large DOM molecules may hinder propanil molecules into the micropore regions. Because of the similar molecule size, TA and PA present a similar suppressive effect on propanil adsorption. The influence of the DOMs was greater when preloaded than when in competition with propanil. The preloading of macromolecules (TA and PA) and OA on the carbons may lead to secondary and primary micropore blocks, respectively. The preloading of GA may cause partial GA molecule sequestration in the primary micropore, thus leading to strong attenuation of propanil adsorption on the carbons. Environ. Toxicol. Chem. 2012;31:1187–1193. © 2012 SETAC
Contaminant driven genetic erosion: A case study with Daphnia longispina
Authors: Ribeiro Rui , Baird Donald J. , Soares Amadeu M.V.M. , Lopes Isabel 
Published: March 2012

Abstract
Natural populations exposed to pollutants are predicted to experience a loss of genetic diversity, especially through genetic drift, gene flow (emigration), and/or selection (as sensitive genotypes may be lost). In the present study, the authors discuss the use of selectable markers and neutral markers to evaluate a contaminant-driven loss of genetic diversity and possible implications of genetic erosion on populations' viability. Viability could be reduced by altering life history parameters, especially due to fitness costs associated with the acquisition of resistance and/or by compromising the resilience and adaptation to future environmental changes. This discussion aims at an integrated and critical analysis of this topic; it is illustrated by several independent studies (each with its own specific objectives) that were carried out at the same location with Daphnia longispina populations. To the best of the authors' knowledge, this is the most extensively documented case study on genetic erosion of a natural zooplankton population. Directional selection has been found to be a main factor of microevolution; therefore, genetic erosion was detected by monitoring suitable phenotypic markers. Genetic drift was found to be probably irrelevant or masked by other factors, especially gene flow. Although the acquisition of resistance apparently did not entail genetically determined fitness costs under uncontaminated conditions, the present case study suggests the possibility of a further loss of genotypes due to some negative linkages between the sensitivity to potential ulterior toxicants. Environ. Toxicol. Chem. 2012; 31: 977–982. © 2012 SETAC
Differential tolerance of native and nonnative fish exposed to ultraviolet radiation and fluoranthene in Lake Tahoe (California/Nevada), USA
Authors: Gevertz Amanda K. , Tucker Andrew J. , Bowling Anna M. , Williamson Craig E. , Oris James T. 
Published: March 2012

Abstract
Within Lake Tahoe (CA/NV), USA, multiple environmental stressors are present that can affect both native and nonnative fish species. Stressors include natural ultraviolet radiation (UVR) and polycyclic aromatic hydrocarbons (PAHs). Many PAHs, such as fluoranthene (FLU) are phototoxic to aquatic organisms in the presence of UVR. Decreasing levels of UVR due to eutrophication and increasing levels of PAHs due to recreational activities may combine to affect the relative ability of native versus nonnative fish species to survive in the lake. The objective of the present study was to examine the differential effects of exposure to different levels of UVR and phototoxic FLU in native and nonnative fish species. Responses to these changes in the native Lahontan redside minnow (Richardsonius egregius) and the nonnative warm-water bluegill sunfish (Lepomis macrochirus) were compared during toxicity tests, which were conducted in controlled outdoor exposures. Physiological defenses were also investigated in an attempt to elucidate ways each species may tolerate UVR and UVR + FLU exposures. It was determined that the native redside minnow is more tolerant to UVR and UVR + FLU exposure when compared to the nonnative bluegill. In addition, a natural UVR coping mechanism, increased pigmentation, is exhibited to a greater extent in the native redside. The present study will help determine the potential for a future successful invasion of the bluegill and similar species in Lake Tahoe and other oligotrophic, montane lakes that are susceptible to habitat alteration, nutrient inputs, and recreational activity. Environ. Toxicol. Chem. 2012; 31: 1129–1135. © 2012 SETAC
Managing valuation
Authors: Julnes George 
Published: March 2012

AbstractThis chapter introduces some of the challenges in valuing programs and policies that seek to serve the public interest. After examining variations in current practice, the author addresses ways of managing the use of valuing methodologies according to the contexts in which they work best. This, in turn, supports conclusions about desired types of balance in our methods of valuing in the field of evaluation. ©Wiley Periodicals, Inc., and the American Evaluation Association.
The logic of valuing
Authors: Scriven Michael 
Published: March 2012

AbstractThis chapter outlines the logical infrastructure that makes it possible to claim that one can validate values, both at a general and a context‐specific level, other than by direct deduction from other value premises. To make the argument, the author distinguishes between the logic of valuing and the logic of evaluation, the former being the primary focus of the argument, and analyzes the invalidity of the long‐standing value‐free doctrine in social sciences. The author discusses several ways in which we can establish factual as well as evaluative premises by observation, inference, or definition, that make it possible to infer beyond reasonable doubt to evaluative conclusions. © Wiley Periodicals, Inc., and the American Evaluation Association.