bluuebunny/crossref_metadata_2025_split huggingface dataset:
Three patients with 46,X,inv(Y)(p11.2q11.2)pat/45,X and their pedigree analysis
Authors: Chen Yunchun , Xu Yuni , Cao Xiaoqiang , Zheng Chunqiao , Lin Liying , Zhu Zhongyuan , Hu Jiandong 
Published: March 2020

AbstractThe present study aimed to perform chromosome examination and pedigree analysis on three patients with semen abnormality who had undergone in vitro fertilization–embryo transfer (IVF‐ET). Peripheral blood cell culture and chromosome karyotyping were performed on 4,200 individuals who had undergone chromosome examination. Among them, 155 pregnant women who had successfully conceived were subjected to amniotic cell culture and chromosome karyotyping and those with abnormal chromosome karyotype were further subjected to C‐banding and whole‐genome sequencing. Mosaicism for a 46,X,inv(Y)(p11.2q11.2)pat/45,X karyotype was identified in the probands and immediate adult male relatives. The incidence of this mosaicism in the study population was only 0.07% (3/4,200), which is reported for the first time. For the proband of pedigree A, the results of whole‐genome sequencing and other tests were normal, and the chromosome karyotype of IVF fetuses was 46,X,inv(Y)(p11.2q11.2)pat. All the male members of three pedigrees have normal phenotypes, with no features of Turner's syndrome (45,X) or hermaphroditism (45,X/46,XY), suggesting that the inverted Y chromosome is extremely unstable and particularly susceptible to loss in somatic cells. So we speculate this karyotype may be a unique type of inverted Y chromosome in somatic cells.
Regional nodal metastasis and 5‐year survival in patients with thin melanoma in Queensland: a population‐based study
Authors: Theile Harrison , Moore Julie , Dunn Nathan , Cossio Danica , Forristal Catherine E. , Green Adele C. , Smithers B. Mark 
Published: March 2020

AbstractBackgroundOptimal management of regional lymph nodes for thin cutaneous melanoma is uncertain. We evaluated regional lymph node involvement and 5‐year melanoma‐specific survival (MSS) in patients with thin (≤1 mm) primary melanoma.MethodsPatients with a melanoma, American Joint Committee on Cancer Staging 8th Edition pT1a (<0.8 mm) or pT1b (ulceration; and/or 0.8–1.0 mm), diagnosed during 2001–2015 were identified from the Queensland Oncology Repository. We extracted demographic, pathology and clinical details, including sentinel lymph node biopsy (SLNB), regional nodal dissection and nodal recurrence. Poisson regression was used to assess recurrence risk in patients who did not undergo SLNB. The 5‐year MSS was calculated using the Kaplan–Maier method with Cox regression to compare survival outcomes according to SLNB performance.ResultsOf the 27 824 eligible patients, 240 (0.9%) underwent SLNB. One hundred and seventy‐eight patients (0.6%) without SLNB had nodal recurrence. Of the 4848 patients with a pT1b lesion, 166 (3.4%) had SLNB with 12 (7.2%) positive; of the remainder, 99 (2.1%) had clinical recurrence. Risk of recurrence was higher in males, nodular subtype and T1b lesions and lower if patients were aged >60 years. The 5‐year MSS was similar for observed and SLNB cohorts (99.66% versus 98.92%) but worse for T1b lesions (98.90%) and clinical nodal recurrence (66.89%).ConclusionOverall prognosis for T1 melanoma is excellent with nodal involvement being rare. However, the American Joint Committee on Cancer 8th Edition T1b melanoma correlates with significantly worse 5‐year MSS and increased regional nodal recurrence (notably for 0.8–1.0 mm lesions with ulceration). Further characterization of high‐risk groups for nodal positivity that impacts patient outcome is needed for the pT1 melanoma cohort.
Perinatal outcomes of twin pregnancies affected by early twin‐twin transfusion syndrome: A systematic review and meta‐analysis
Authors: D’Antonio Francesco , Benlioglu Can , Sileo Filomena G. , Thilaganathan Basky , Papageorghiou Aris , Bhide Amarnath , Khalil Asma 
Published: March 2020

AbstractIntroductionTwin‐to‐twin transfusion syndrome (TTTS) is associated with a high risk of perinatal mortality and morbidity if not treated. However, the optimal timing and management in case of early (occurring < 18 weeks) TTTS has not been established yet.Material and methodsThis is a systematic review and meta‐analysis aiming at evaluating the outcomes of monochorionic diamniotic twin pregnancies complicated by early (ie before 18 weeks) TTTS according to different management options (expectant, laser therapy, amnioreduction or cord occlusion). The primary outcome was mortality, including single and double intrauterine, neonatal and perinatal death. Secondary outcomes were: composite morbidity, neuromorbidity, respiratory distress syndrome, admission to neonatal intensive care unit, intact survival (defined as survival free from neurological complications) and preterm birth < 32 weeks of gestation. All outcomes were reviewed according to the different management options (expectant, laser therapy, amnioreduction or cord occlusion) and reported FOR the overall population of twins, and for the donor and recipient separately. Subgroup analysis for TTTS occurring before 16 weeks of gestation was performed. Random‐effect meta‐analyses of proportions were used to analyse the data.ResultsThirteen studies were included. Early TTTS occurred in 14.3% (95% confidence interval [CI] 11.9‐17.0) of cases. The incidence of intrauterine death was 19.0% (95% CI 2.6‐45.5) in twins managed expectantly, 32.4% (95% CI 16.5‐50.7) in those who received laser treatment and 12.5% (95% CI 4.8‐23.0) in those treated with amnioreduction. The incidence of neonatal death was 22.6% (95% CI 4.2‐49.8) in twins managed expectantly, 24.7% (95% CI 0.5‐80.3) in those who received laser and 20.2 (95% CI 5.8‐43.4) in those who had amnioreduction; it was not possible to compute the incidence of these outcomes in twins undergoing cord occlusion because of insufficient sample and lack of reporting of most of the observed outcomes. Overall, the incidence of perinatal death was 43.9% (95% CI 5.9‐87.7) in twins managed expectantly, 47.3% (95% CI 21.4‐70.0) in those treated with laser and 28.5% in those who had amnioreduction.ConclusionsTwin pregnancies affected by early TTTS are at substantial risk of perinatal mortality and morbidity; however, the data come from very small studies with a high risk of selection bias.
Pseudoexfoliation syndrome and relating factors in a rural Japanese population: the Kumejima Study
Authors: Arakaki Yoshikuni , Sawaguchi Shoichi , Iwase Aiko , Tomidokoro Atsuo , Araie Makoto 
Published: March 2020

AbstractPurposeTo report the prevalence of pseudoexfoliation (PEX) syndrome and glaucoma associated with PEX (PEX‐G) and their relating factors of them in a south‐western island of Japan.MethodsA population‐based survey of all residents aged ≥ 40 years was conducted in Kumejima, Okinawa, Japan, and 3762 subjects (participation rate, 81.2%) underwent detailed ophthalmic examinations. Presence of PEX material on the lens capsule, iris surface and/or pupillary margin was determined by slit‐lamp biomicroscopy. Glaucoma was diagnosed according to the criteria of the International Society of Geographical and Epidemiological Ophthalmology.ResultsIn subjects aged ≥ 40 years, prevalence rates of PEX syndrome, PEX without glaucoma and PEX‐G in at least one eye were 1.5% (95% confidence interval [CI]: 1.0–1.9%), 1.3% (95% CI: 0.9–1.7%) and 0.1% (95% CI: 0.0–0.2%), respectively, excluding eyes after cataract surgery; and 2.8% (95% CI: 2.3–3.3%), 2.2% (95% CI: 1.8–2.6 %) and 0.4% (95% CI: 0.2–0.6%), respectively, including eyes after cataract surgery. Cataract surgery had been performed in 61% of subjects with PEX in at least one eye; presence of PEX showed no significant effects on the intraocular pressure (IOP). A multivariate analysis showed that PEX was associated with older age (p < 0.0001, odds ratio: 1.10 [95% CI: 1.07–1.13]) and working outdoors (p = 0.0395, odds ratio: 2.18 [95% CI: 0.99–4.82]).ConclusionsThe prevalence rates of PEX syndrome and PEX‐G in a south‐western island of Japan were reported. PEX showed no significant effect on IOP, and age and working outdoors were significantly related with PEX.
Editorial: a clinical decision tool to identify patients who might benefit most from intensified dosing in the biological era—getting nearer? Authors' reply
Authors: Dulai Parambir S. 
Published: March 2020

LINKED CONTENTThis article is linked to Dulai et al and Verstockt and Ferrante papers. To view these articles, visit https://doi.org/10.1111/apt.15609 and https://doi.org/10.1111/apt.15634.
A population pharmacokinetic model for escitalopram and its major metabolite in depressive patients during the perinatal period: Prediction of infant drug exposure through breast milk
Authors: Weisskopf Etienne , Guidi Monia , Fischer Céline J. , Bickle Graz Myriam , Beaufils Etienne , Nguyen Kim An , Morisod Harari Mathilde , Rouiller Sylvie , Rothenburger Sophie , Gaucherand Pascal , Kassai‐Koupai Behrouz , Borradori Tolsa Cristina , Epiney Manuella , Tolsa Jean‐François , Vial Yvan , Hascoët Jean‐Michel , Claris Olivier , Eap Chin B , Panchaud Alice , Csajka Chantal 
Published: March 2020

Background and objectivesEscitalopram (SCIT) is frequently prescribed to breastfeeding women. Available information on SCIT excretion into breast milk is based on heterogeneous and incomplete data. A population pharmacokinetic model that aimed to better characterize maternal and infant exposure to SCIT and its metabolite was developed.MethodsThe study population was composed of women treated by SCIT or racemic citalopram and enrolled in the multicenter prospective cohort study SSRI‐Breast Milk study (ClinicalTrial.gov NCT01796132). A joint structural model was first built for SCIT and S‐desmethylcitalopram (SDCIT) in plasma using NONMEM and the milk‐to‐plasma ratio (MPR) was estimated by adding the drug breast milk concentrations. The effect of different influential covariates was tested and the average drug exposure with variability through breastfeeding was predicted under various conditions by simulation.ResultsThe study enrolled 33 patients treated with SCIT or racemic citalopram who provided 80 blood and 104 milk samples. Mean MPR for both parent drug and metabolite was 1.9. Increased milk fat content was significantly associated with an increased drug transfer into breast milk (+28% for SCIT and +18% for SDCIT when fat amount doubles from 3.1 to 6.2 g/100 mL). Simulations suggested that an exclusively breastfed infant would ingest daily through breast milk 3.3% of the weight‐adjusted maternal SCIT dose on average.ConclusionThe moderate between‐subject variability in milk concentration of SCIT and the limited exposure to escitalopram through breast milk observed provide reassurance for treated mothers of breastfed healthy infants.
RAPP‐children: A new tool for assessing quality of life in patients with asthma and rhinitis
Authors: Fasola Salvatore , Montalbano Laura , Ferrante Giuliana , Cilluffo Giovanna , Malizia Velia , Baiardini Ilaria , Braido Fulvio , Viegi Giovanni , La Grutta Stefania 
Published: March 2020

AbstractBackgroundRhinAsthma Patient Perspective (RAPP) is a short, validated questionnaire for assessing health‐related quality of life (HRQoL) in adult patients with comorbid asthma and rhinitis, while a paediatric version is still not available.ObjectiveThe current study aimed to develop and validate the RAPP‐children questionnaire.MethodsRAPP‐children was derived by combining RhinAsthma‐children subscales into five unique items. At baseline (T0) and after 30 days (T1), 150 children (6‐11 years) with comorbid asthma (predominantly intermittent or mild persistent) and rhinitis were given the following: RAPP‐children, RhinAsthma‐children, Paediatric Asthma Quality of Life Questionnaire (PAQLQ, age >6 years), Paediatric Rhinoconjunctivitis Quality of Life Questionnaire (PRQLQ), Childhood Asthma Control Test (CACT), KiddyKindl® (age 6 years) or KidKindl® (age >6 years), and a Visual Analogue Scale for nasal symptoms (VAS). At the final visit, a Global Rating of Change (GRC) scale was administered. The approved study was registered on the central registration system ClinicalTrials.gov (ID: NCT03276416).ResultsRAPP‐children fairly reproduced RhinAsthma‐children scores (concordance correlation coefficients between 0.91 and 0.95). RAPP‐children showed adequate convergent validity (absolute Spearman's rho larger than 0.5 with PAQLQ, PRQLQ, CACT, KiddyKindl/KidKindl, and VAS), internal consistency (Cronbach's alpha > 0.70), repeatability (intra‐cluster correlation coefficient between 0.61 and 0.8) in the presence of clinical stability (GRC = 0), discriminant validity (sensitivity to asthma control status and rhinitis severity), and sensitivity to symptom improvements (GRC > 1). The minimal important difference (MID) was −20. Floor and ceiling effects were minimal. RAPP‐children showed fair usability also in younger children (6‐8 years).Conclusion & Clinical RelevanceRAPP‐children is a valid, five‐item questionnaire for assessing HRQoL in children aged 6 to 11 years with concomitant asthma and rhinitis. Although further investigation is required in moderate and severe asthmatics, this tool can be useful in clinical trials and in routine medical practice for improving the management of respiratory allergy in children.
When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families
Authors: Eaton Alison , Hartley Taila , Kernohan Kristin , Ito Yoko , Lamont Ryan , Parboosingh Jillian , Barrowman Nick ,   The Care4Rare consortium, Innes A. Micheil , Boycott Kym 
Published: March 2020

AbstractExome sequencing (ES) is an effective diagnostic tool with a high yield in consanguineous families. However, how diagnostic yield and mode of inheritance relate to family structure has not been well delineated. We reviewed ES results from families enrolled in the Care4Rare Canada research consortium with various degrees of consanguinity. We contrasted the diagnostic yield in families with parents who are second cousins or closer (“close” consanguinity) vs those more distantly related or from isolated populations (“presumed” consanguinity). We further stratified by number of affected individuals (multiple affected [“multiplex”] vs single affected [simplex]). The overall yield in 116 families was 45.7% (n = 53) with no significant difference between subgroups. Homozygous variants accounted for 100% and 75% of diagnoses in close and presumed consanguineous multiplex families, respectively. In simplex presumed consanguineous families, a striking 46.2% of diagnoses were due to de novo variants, vs only 11.8% in simplex closely consanguineous families (88.2% homozygous). Our data underscores the high yield of ES in consanguineous families and highlights that while a singleton approach may frequently be reasonable and a responsible use of resources, trio sequencing should be strongly considered in simplex families in the absence of confirmed consanguinity given the proportion of de novo variants.
Optimisation of process parameters of Alpaca wool printing with Juglans regia natural dye
Authors: Glogar Martinia , Tancik Josipa , Brlek Iva , Sutlovic Ana , Tkalec Marijana 
Published: March 2020

AbstractThe aim of this research study was to optimise the process parameters of Alpaca wool hand‐knitted samples screen‐printing with Juglans regia natural dye and to set the optimal conditions regarding colour yield, colour fastness and colouristic properties of printed samples. An extensive preliminary examination of the Alpaca woollen yarn and hand‐knitted samples characteristics, the characteristics of suitable thickeners and the optimisation of the printing paste composition, was performed. A starch‐based thickener, British Gum, with a dry matter content of 4% was selected due to its rheological properties responding to properties of the Alpaca yarn and knitwear. It was determined that the fluidity increases while the viscosity and the elasticity decrease in acidic pH, so a pH of 4 was set for the thickener preparation. The thickener of lower viscosity and higher fluidity assures easier pressing of printing paste through the screen, giving uniform colour yield on the substrate, contributing to easier absorption of dyes into the fibre. A 45‐minute fixing process at 105°C by steaming delivered the best results of printing quality. Iron sulphate was used as the mordanting agent. The colour fastness to washing, dry and wet rubbing, and to light, was tested for samples with and without mordanting. The highest light and washing fastness were obtained with the iron sulphate mordanting agent printed in acid (pH 4) with paste containing 4% dry matter‐based thickener. The rubbing fastness was satisfactory for samples with iron sulphate printed with paste containing 4% dry matter thickener, fixed for 45 minutes, regardless of the pH.
The roles of mutated SWI/SNF complexes in the initiation and development of hepatocellular carcinoma and its regulatory effect on the immune system: A review
Authors: Hu Bo , Lin Jian‐Zhen , Yang Xiao‐Bo , Sang Xin‐Ting 
Published: March 2020

AbstractHepatocellular carcinoma (HCC) is a primary liver malignancy with a high global prevalence and a dismal prognosis. Studies are urgently needed to examine the molecular pathogenesis and biological characteristics of HCC. Chromatin remodelling, an integral component of the DNA damage response, protects against DNA damage‐induced genome instability and tumorigenesis by triggering the signalling events that activate the interconnected DNA repair pathways. The SWI/SNF complexes are one of the most extensively investigated adenosine triphosphate‐dependent chromatin remodelling complexes, and mutations in genes encoding SWI/SNF subunits are frequently observed in various human cancers, including HCC. The mutated SWI/SNF complex subunits exert dual functions by accelerating or inhibiting HCC initiation and progression. Furthermore, the abnormal SWI/SNF complexes influence the transcription of interferon‐stimulated genes, as well as the differentiation, activation and recruitment of several immune cell types. In addition, they exhibit synergistic effects with immune checkpoint inhibitors in the treatment of diverse tumour types. Therefore, understanding the mutations and deficiencies of the SMI/SNF complexes, together with the associated functional mechanisms, may provide a novel strategy to treat HCC through targeting the related genes or modulating the tumour microenvironment.
Anti‐tumour effects of Keratin 6A in lung adenocarcinoma
Authors: Xiao Jian , Kuang Xiao , Dai Longxia , Zhang Lihai , He Bixiu 
Published: March 2020

AbstractBackgroundTo examine the effects of Keratin 6A (KRT6A) protein on the proliferation, migration and invasion abilities of lung adenocarcinoma cells, and to analyse the relationship between the expression level of KRT6A protein and the survival prognosis of lung adenocarcinoma patients.MethodsWestern Blot was used to detect the expression of KRT6A protein in lung adenocarcinoma cell lines. CCK‐8 experiment and colony formation assays were performed to detect the proliferation ability. Wound healing assay and transwell migration assay were conducted to detect the migration ability. Transwell invasion assay was conducted to detect the invasion ability. Immunohistochemistry was used to detect the expression of KRT6A protein in lung adenocarcinoma tissues.ResultsWe first found that the expression of KRT6A protein in lung adenocarcinoma cell lines was low. After overexpressed KRT6A protein in lung adenocarcinoma cells, we then found that KRT6A protein could not only inhibit the proliferation ability of lung adenocarcinoma cells but also inhibit them migration and invasion abilities. In addition, we also found that there had obvious difference in the expression of KRT6A protein in between patients. And through further analysis, we finally discovered that high expression of KRT6A protein was related to favourable prognosis in lung adenocarcinoma patients.ConclusionsKRT6A protein inhibits the proliferation, migration and invasion abilities of lung adenocarcinoma cells, and high expression of KRT6A protein is a predictor of good prognosis in patients with lung adenocarcinoma.
Bastard Spice or Champagne of Cinnamon? Conflicting Value Creations along Cinnamon Commodity Chains in Northern Vietnam
Authors: Derks Annuska , Turner Sarah , Thúy Hạnh Ngô 
Published: March 2020

ABSTRACTIn upland northern Vietnam ethnic minority farmers are cultivating what some global retailers refer to as the ‘champagne of cinnamon’. However, a closer examination reveals that this spice is not ‘true cinnamon’ but cassia, with the exact species remaining uncertain. Drawing on commodity chain literature and debates over the creation of value and quality, the aims of this article are twofold. First, it investigates the making of ‘Vietnamese cinnamon’ as it moves from the hills of northern Vietnam to supermarket shelves in the global North, and the actors and livelihoods involved. Second, it explores how different actors define ‘Vietnamese cinnamon’ and infuse it with often‐contradictory values. Based on multi‐sited ethnographic fieldwork over a four‐year period, the study finds that the state and cooperating non‐government organizations tend to ignore ongoing taxonomic confusion while creating a geographical indicator to highlight the uniqueness of this commodity. Yet, concurrently, exporters and retailers in the global North focus on other distinctions as key marketing tools including remoteness, ethnicity, taste and health benefits. The article thus calls for an expanded analytical focus on competing value creation for agro‐food products and on the impacts for commodity producers, in this case ethnic minority farmers in the global South.
Self‐perceived gait quality in young adults with cerebral palsy
Authors: Bonnefoy‐Mazure Alice , De Coulon Geraldo , Armand Stephane 
Published: March 2020

AimTo explore how patients with cerebral palsy (CP) perceive their gait and evaluate associations between subjective gait perception and: objective gait parameters, endurance, pain, and fatigue.MethodSixty‐two patients (21 females and 41 males; mean [SD] age 20y [5y 1mo], range 15–29y) performed a clinical gait analysis. Self‐selected walking speed, Gait Profile Score, and Gait Variable Score were calculated. Subjective gait perception was assessed with a visual analogue scale using the question: ‘On a scale from 0 (worst) to 10 (optimal), how would you describe your walking today?’. A 6‐minute walk test (6MWT) measured endurance; the 36‐Item Short Form Health Survey (SF‐36) evaluated quality of life. T‐tests, Pearson correlations, and univariate and multiple linear regression models were used to compare and find associations between the data.ResultsOverall mean (SD) subjective gait perception was 7.5 (1.8) and was significantly higher for patients in Gross Motor Function Classification System (GMFCS) level I (7.9 [1.5]) than for patients in GMFCS levels II and III (5.9 [2.0]). Positive correlations were found between subjective gait perception and gait scores, walking speed, 6MWT distance, and SF‐36 score. Only walking speed was a significant predictor of subjective gait perception.InterpretationSubjective gait perception was influenced by GMFCS level and linked partially with the walking speed. The gait quality did not explain subjective gait perception. It is important to combine subjective and objective gait scores to develop personalized therapeutic goals.What this paper adds

Subjective gait perception is influenced by the physical impairment levels of patients with cerebral palsy.

Subjective gait perception and objective gait scores are associated.

Walking speed is the only predictor of gait perception.