bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diagnostic difficulties and possibilities of NF1-like syndromes in childhood
Authors: Pinti Eva , Nemeth Krisztina , Staub Krisztina , Lengyel Anna , Fekete Gyorgy , Haltrich Iren 
Published: July 2021

Abstract
Background
Neurofibromatosis type 1 (NF1), which is caused by heterozygous inactivating pathogenic variants in the NF1, has poor phenotypic expressivity in the early years of life and there are numerous conditions, including many other tumor predisposition syndromes, that can mimic its appearance. These are collectively termed NF1-like syndromes and are also connected by their genetic background. Therefore, the NF1’s clinical diagnostic efficiency in childhood could be difficult and commonly should be completed with genetic testing.

Methods
To estimate the number of syndromes/conditions that could mimic NF1, we compiled them through an extensive search of the scientific literature. To test the utility of NF1’s National Institutes of Health (NIH) clinical diagnostic criteria, which have been in use for a long time, we analyzed the data of a 40-member pediatric cohort with symptoms of the NF1-like syndromes’ overlapping phenotype and performed NF1 genetic test, and established the average age when diagnostic suspicion arises. To facilitate timely identification, we compiled strongly suggestive phenotypic features and anamnestic data.

Results
In our cohort the utility of NF1’s clinical diagnostic criteria were very limited (sensitivity: 80%, specificity: 30%). Only 53% of children with clinically diagnosed NF1 had a detectable NF1 pathogenic variation, whereas 40% of patients without fulfilled clinical criteria tested positive. The average age at first genetic counseling was 9 years, and 40% of children were referred after at least one tumor had already been diagnosed. These results highlight the need to improve NF1-like syndromes’ diagnostic efficiency in childhood. We collected the most extensive spectrum of NF1-like syndromes to help the physicians in differential diagnosis. We recommend the detailed, non-invasive clinical evaluation of patients before referring them to a clinical geneticist.

Conclusions
Early diagnosis of NF1-like syndromes can help to prevent severe complications by appropriate monitoring and management. We propose a potential screening, diagnostic and management strategy based on our findings and recent scientific knowledge.
Insecticide-treated net ownership, utilization and knowledge of malaria in children residing in Batoke–Limbe, Mount Cameroon area: effect on malariometric and haematological indices
Authors: Teh Rene Ning , Sumbele Irene Ule Ngole , Meduke Derick Ndelle , Nkeudem Gillian Asoba , Ojong Samuel Takang , Teh Exodus Akwa , Kimbi Helen Kuokuo 
Published: July 2021

Abstract
Background
Insecticide-treated nets (ITNs) are the most widely used interventions for malaria control in Africa. The aim of this study was to assess the ownership and utilization of ITNs and the knowledge of malaria and their effects on malariometric and haematological indices in children living in the Mount Cameroon area.

Methods
A community-based cross-sectional study involving a total of 405 children aged between 6 months and 14 years living in Batoke–Limbe was carried out between July and October 2017. A semi-structured questionnaire was used to document demographic status, knowledge on malaria and ITN ownership and usage. Venous blood sample was collected from each child to determine the prevalence and intensity of parasitaemia by Giemsa-stained microscopy and full blood count by auto haematology analysis to obtain white blood cell (WBC) and red blood cell (RBC) counts, haemoglobin (Hb) level, haematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) and mean corpuscular haemoglobin concentration (MCHC). A multilinear regression model was used to determine the relationship between haematological parameter as dependent variable and the independent variables.

Results
The overall prevalence of parasitaemia, anaemia, knowledge about malaria, ITN ownership, usage and effective usage was 46.7%, 54.7%, 40.7%, 78.8%, 50.9% and 29.9%, respectively. The prevalence of parasitaemia was significantly higher (P < 0.001) in children who ineffectively utilized ITNs (54.9%) than effective users (27.3%). Having knowledge of malaria, negatively correlated with WBC counts (P = 0.005), but positively correlated with Hb levels (P < 0.001), RBC counts (P < 0.001), Hct (P < 0.001), MCV (P < 0.001) and MCH (P < 0.001). ITN use positively correlated with WBC counts (P = 0.005) but negatively with Hb levels (P = 0.004), RBC counts (P = 0.006), and MCH (P < 0.001). Meanwhile, parasitaemia negatively correlated with Hb levels (P = 0.004), RBC counts (P = 0.01), Hct (P = 0.04) and MCHC (P = 0.015).

Conclusion
There is need for more sensitization on the benefits of using the ITNs to meet up with the intended and expected impact of the free distribution of ITNs.
The complexities of insulin allergy: a case and approach
Authors: Aberumand Babak , Jeimy Samira 
Published: July 2021

Abstract
Background
Insulin hypersensitivity is rare, but challenging for individuals with diabetes. The prevalence of insulin allergy has decreased since the introduction of human recombinant insulin preparations. Hypersensitivity reactions range from injection site erythema and swelling, to anaphylaxis. While some reactions are to excipients (zinc, protamine, metacresol), many are to recombinant insulin itself. We present a case of type 1 hypersensitivity to various preparations of insulin in a patient with insulin-dependent type 2 diabetes mellitus (T2DM).

Case presentation
A 61-year-old woman with a 30-year history of insulin-dependent T2DM was referred for evaluation of reactions to insulin. She had two episodes over 5-months; both required Emergency Department visits and epinephrine administration. The first episode entailed a burning sensation of the extremities and nausea, immediately after injecting NovoRapid® insulin. The second event entailed a similar reaction but this time there was also angioedema of the upper airway with difficulty breathing and hypotension, immediately after injecting Levemir® and NovoRapid®, and taking metformin. There were no cofactors such as exercise, infectious illness, or NSAIDs use. Skin testing was performed with metformin, Lantus®, Humalog®, NovoRapid®, glulisine, insulin regular, NPH, Levemir® and the excipient protamine, as per published testing concentrations. Metacresol was not tested as its use was restricted by the hospital pharmacy. Insulin preparations with and without metacresol were included in testing however. A clinic staff served as a negative control. The patent had negative testing with protamine, but sensitization to all insulin preparations. Metformin skin testing and challenge along with latex IgE were negative. Subsequently, she underwent intentional weight loss of 70 lb, and was started on oral hypoglycemics with good effect.

Conclusions
Our case highlights the importance of diagnosing insulin allergy through a detailed history and focused testing. Therapeutic strategies include avoidance and insulin alternatives, alternate insulin preparations, or desensitization. In severe recurrent hypersensitivity reactions, Omalizumab or pancreatic transplantation have been effective.
Neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms: a case report
Authors: Uchida Tatsuya , Amagasaki Kenichi , Hosono Atsushi , Nakaguchi Hiroshi 
Published: July 2021

AbstractBackgroundNeurofibromatosis type 1 causes various lesions in many organs including the skin, and the incidence of complications with intracranial aneurysms is 9–11%. Here we report a case of neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple andde novoaneurysms.Case presentationThe patient was a 49-year-old Japanese woman with a history of neurofibromatosis type 1. She was transported to our hospital owing to disturbance of consciousness and was diagnosed with subarachnoid hemorrhage by computed tomography. Computed tomography angiography revealed multiple, small intracranial aneurysms, and we suspected that one of them in the peripheral branch of the left middle cerebral artery was the source of hemorrhage based on the distribution of hematoma. The patient underwent emergency surgery. Because it was difficult to identify an aneurysm in the most peripheral part of the left middle cerebral artery in the initial surgery, only one aneurysm was clipped. Later, a peripheral aneurysm was clipped using the navigation system. Because both aneurysms were small intracranial aneurysms (< 2 mm), either of them could be the source of hemorrhage. The postoperative course was good, and the patient was discharged in healthy condition. Because brain magnetic resonance imaging performed in the previous year did not find aneurysms at the same site, she was diagnosed with rupture of ade novoaneurysm. Neurofibromatosis type 1 might have caused the rupture of multiple intracranial aneurysms in a short period in this patient.ConclusionNeurofibromatosis type 1 may be complicated by the formation of multiple intracranial aneurysms in a short period.
Ensemble completeness in conformer sampling: the case of small macrocycles
Authors: Seep Lea , Bonin Anne , Meier Katharina , Diedam Holger , Göller Andreas H. 
Published: July 2021

AbstractIn this study we compare the three algorithms for the generation of conformer ensembles Biovia BEST, Schrödinger Prime macrocycle sampling (PMM) and Conformator (CONF) form the University of Hamburg, with ensembles derived for exhaustive molecular dynamics simulations applied to a dataset of 7 small macrocycles in two charge states and three solvents. Ensemble completeness is a prerequisite to allow for the selection of relevant diverse conformers for many applications in computational chemistry. We apply conformation maps using principal component analysis based on ring torsions. Our major finding critical for all applications of conformer ensembles in any computational study is that maps derived from MD with explicit solvent are significantly distinct between macrocycles, charge states and solvents, whereas the maps for post-optimized conformers using implicit solvent models from all generator algorithms are very similar independent of the solvent. We apply three metrics for the quantification of the relative covered ensemble space, namely cluster overlap, variance statistics, and a novel metric, Mahalanobis distance, showing that post-optimized MD ensembles cover a significantly larger conformational space than the generator ensembles, with the ranking PMM > BEST >> CONF. Furthermore, we find that the distributions of 3D polar surface areas are very similar for all macrocycles independent of charge state and solvent, except for the smaller and more strained compound 7, and that there is also no obvious correlation between 3D PSA and intramolecular hydrogen bond count distributions.
Imaging of a serpentinite complex in the Kamuikotan Zone, northern Japan, from magnetotelluric soundings
Authors: Ichihara Hiroshi , Mogi Toru , Uchida Toshihiro , Satoh Hideyuki , Yamaya Yusuke , Fujii Masakazu , Yamazaki Shusaku , Okazaki Kenji , Tada Noriko 
Published: July 2021

AbstractWe conducted magnetotelluric measurements to investigate a large serpentinite complex in the northern Kamuikotan Zone that intruded a Cretaceous–Paleocene forearc sedimentary sequence. The resistivity model we derived by three-dimensional inversion clearly shows a low-resistivity zone beneath the outcrop of the serpentinite complex. We interpret the low-resistivity zone to represent aqueous pore fluid within a serpentinite mélange derived from the subducting Pacific plate or mantle wedge. Previous geological studies in the area have shown that the serpentinite mélange had uplifted during the early Pleistocene. They indicate that the ultramafic rocks and aqueous fluids have continued to rise in the area. The uplifting serpentinite body might have formed a zone enriched in pore fluid that promoted the occurrence of a previously identified intra-plate slow slip event. These results demonstrate the important role of fluid transport during tectonic processes related to uplift in subduction zones.
The diagnostic accuracy of diffusion-weighted magnetic resonance imaging and shear wave elastography in comparison to dynamic contrast-enhanced MRI for diagnosing BIRADS 3 and 4 lesions
Authors: Abdel Rahman Rasha Wessam , Refaie Reham Mohammed Abd ElHai , Kamal Rasha Mohammed , Lasheen Shaimaa Farouk , Elmesidy Dalia Salaheldin 
Published: July 2021

AbstractBackgroundBreast cancer is one of the leading causes of female morbidity and mortality. Management options vary between lesions of BIRADS categories 3 and 4. Therefore, reliable differentiation would improve outcome. Although sonomammography and contrast-enhanced breast magnetic resonance imaging (CE-MRI) remain the cornerstone for assessment of breast disease, additional, non-invasive techniques can be used to increase the efficiency of evaluation such as shear wave elastography (SWE) and diffusion-weighted magnetic resonance imaging (DW-MRI). This prospective study included 66 breast lesions that were categorized as BIRADS 3 or 4 by ultrasound ± mammography. All lesions were evaluated by SWE, CE-MRI and DW-MRI. For SWE, lesions were evaluated by both qualitative and quantitative methods. For CE-MRI, both morphological and kinematic evaluations were done and for DW-MRI, both qualitative and quantitative assessments were studied. Results of all imaging modalities were correlated to histopathology.ResultsThirty-seven out of the examined 66 lesions (56.06%) were categorised as BIRADS 3, out of which 1 (2.7%) turned out to be malignant on histopathology and 36 (97.29%) were proved benign. Twenty-nine (43.93%) were categorized as BIRADS 4, out of which 2 (6.89%) turned out to be benign on pathology and 27 (93.1%) were proved malignant. Morphological and kinematic evaluations of CE-MRI showed 92.59% and 92.86%sensitivity, 94.74% and 84.21% specificity, 92.59 and 81.25%PPV, 94.74 and 94.12% NPV, and 93.85% and 87.88% accuracy respectively. Color-coded scoring of SWE showed indices of 89.29%, 68.42%, 67.57%, 89.66%, and 77.27% respectively. The calculated cut-off value forEmax differentiating benign from malignant was 65.15 kpa, resulting in indices of 96.43%, 57.89%, 95.65%, 62.79%, and 74.24% respectively. ForEratio, the calculated cut-off value was 4.55, resulting in indices of 71.43%, 68.42%, 76.47%, 62.50% and 69.70% respectively. For qualitative evaluation of DW-MRI, indices were 78.57%, 65.79%, 62.86%, 80.65%, and 71.21% respectively. For ADC, the calculated cut-off value was 1.25 × 103 mm2/s, which resulted in indices of 75.00%, 84.21%, 82.05%, 77.78%, and 80.30% respectively.ConclusionCE-MRI showed the best diagnostic performance indices. While, SWE and DW-MRI present variable diagnostic performance, both techniques can be used as an adjunct to other imaging modalities to aid the clinical decision and increase its diagnostic confidence.
Primary Adrenal Insufficiency Due to Bilateral Adrenal Infarction in COVID-19
Authors: Machado Iza F R , Menezes Isabel Q , Figueiredo Sabrina R , Coelho Fernando M A , Terrabuio Debora R B , Ramos Davi V , Fagundes Gustavo F C , Maciel Ana Alice W , Claudia Latronico Ana , Fragoso Maria Candida B V , Cancado Eduardo L R , Mendonca Berenice B , Almeida Madson Q 
Published: July 2021

Abstract

Context
Coronavirus disease 2019 (COVID-19) is a proinflammatory and prothrombotic condition, but its impact on adrenal function has not been adequately evaluated.

Case report
A 46-year-old woman presented with abdominal pain, hypotension, and skin hyperpigmentation after COVID-19 infection. The patient had hyponatremia, serum cortisol &lt;1.0 µg/dL, adrenocorticotropin (ACTH) of 807 pg/mL, and aldosterone &lt;3 ng/dL. Computed tomography (CT) findings of adrenal enlargement with no parenchymal and minimal peripheral capsular enhancement after contrast were consistent with bilateral adrenal infarction. The patient had autoimmune hepatitis and positive antiphospholipid antibodies, but no previous thrombotic events. The patient was treated with intravenous hydrocortisone, followed by oral hydrocortisone and fludrocortisone.

Discussion
We identified 9 articles, including case reports, of new-onset adrenal insufficiency and/or adrenal hemorrhage/infarction on CT in COVID-19. Adrenal insufficiency was hormonally diagnosed in 5 cases, but ACTH levels were measured in only 3 cases (high in 1 case and normal/low in other 2 cases). Bilateral adrenal nonhemorrhagic or hemorrhagic infarction was identified in 5 reports (2 had adrenal insufficiency, 2 had normal cortisol levels, and 1 case had no data). Interestingly, the only case with well-characterized new-onset acute primary adrenal insufficiency after COVID-19 had a previous diagnosis of antiphospholipid syndrome. In our case, antiphospholipid syndrome diagnosis was established only after the adrenal infarction triggered by COVID-19.

Conclusion
Our findings support the association between bilateral adrenal infarction and antiphospholipid syndrome triggered by COVID-19. Therefore, patients with positive antiphospholipid antibodies should be closely monitored for symptoms or signs of acute adrenal insufficiency during COVID-19.
Treatment Switch in Poor Responders with Locally Advanced Gastric Cancer After Neoadjuvant Chemotherapy
Authors: Liu Zining , Wang Yinkui , Shan Fei , Ying Xiangji , Zhang Yan , Li Shuangxi , Jia Yongning , Miao Rulin , Xue Kan , Li Zhemin , Li Ziyu , Ji Jiafu 
Published: July 2021

Abstract
Background
Among locally advanced gastric cancer (LAGC) patients, poor response to initial neoadjuvant chemotherapy (NAC) is associated with unfavorable outcomes; however, changing the postoperative therapy regimen in this group of patients is unclear. We compared the poor responders who continued the original protocols with that of patients who switched treatment after NAC plus D2 gastrectomy.

Methods
Our study included LAGC patients who achieved tumor regression grade 3 according to the American Joint Committee on Cancer/College of American Pathologists system, after NAC, between December 2006 and December 2017 at our institution. Outcomes were overall survival (OS), progression-free survival (PFS), and adverse events during postoperative treatment. The propensity score matching method was used to match patients.

Results
Overall, 160 patients were enrolled in the final analysis set, including 21 switched cases and 139 non-switched cases. A 1:2 matched cohort (21 switching vs. 42 non-switching) was generated to eliminate all confounding factors. No statistical differences were observed in OS and PFS, either in the whole patients (OS: log-rank p = 0.804; PFS: log-rank p = 0.943) or in the matched cohort (OS: log-rank p = 0.907; PFS: log-rank p = 0.670) between the two groups. Patients with changed regimens had a significantly higher rate of peripheral neurotoxicity (p = 0.045). Contrarily, a lower rate of overall adverse events was observed in the non-switching group with marginal significance (p = 0.069).

Conclusion
Adjusting to a non-cross-resistant regimen only by post-NAC pathological evaluation may not be sufficient for designing an effective treatment route for LAGC poor responders. Treatment change required a more scrutinized clinical track, which involved a multifaceted assessment.
A Longitudinal Analysis of Functional Disability, Recovery, and Nursing Home Utilization After Hospitalization for Ambulatory Care Sensitive Conditions Among Community‐Living Older Persons
Authors: Gettel Cameron J , Venkatesh Arjun K , Leo‐Summers Linda S , Murphy Terrence E , Gahbauer Evelyne A , Hwang Ula , Gill Thomas M 
Published: July 2021

BACKGROUND/OBJECTIVEHospitalizations for ambulatory care sensitive conditions (ACSCs) are considered potentially preventable. With little known about the functional outcomes of older persons after ACSC‐related hospitalizations, our objectives were to describe: (1) the 6‐month course of postdischarge functional disability, (2) the cumulative monthly probability of functional recovery, and (3) the cumulative monthly probability of incident nursing home (NH) admission.METHODSThe analytic sample included 251 ACSC‐related hospitalizations from a cohort of 754 nondisabled, community‐living persons aged 70 years and older who were interviewed monthly for up to 19 years. Patient‐reported disability scores in basic, instrumental, and mobility activities ranged from 0 to 13. Functional recovery was defined as returning within 6 months of discharge to a total disability score less than or equal to that immediately preceding hospitalization.RESULTSThe mean age was 85.1 years, and the mean disability score was 5.4 in the month prior to the ACSC‐related hospitalization. After the ACSC‐related hospitalization, total disability scores peaked at month 1 and improved modestly over the next 5 months, but remained greater than the pre‐hospitalization score. Functional recovery was achieved by 70% of patients, and incident NH admission was experienced by 50% within 6 months after the 251 ACSC‐related hospitalizations.CONCLUSIONSDuring the 6 months after an ACSC‐related hospitalization, older persons exhibited total disability scores that were higher than those immediately preceding hospitalization, with 3 of 10 not achieving functional recovery and half experiencing incident NH admission. These findings provide evidence that older persons experience clinically meaningful adverse patient‐reported outcomes after ACSC‐related hospitalizations.
Postpamięć schyłkowego okresu socjalizmu w Polsce a kompetencja tłumaczeniowa studentów filologii rosyjskiej
Authors: Chudyk Dorota , Żarska Anna 
Published: July 2021

Post-memory and Translation Competence of Russian Philology Students (Based on the Decline of Socialist Period in Poland)
Translation competence is not only a good command of the languages but also the knowledge about the reality, culture, and history of both communities of communication. The observations conducted during the process of developing translation competence on philological studies allow us to make a hypothesis. The knowledge about the reality, affairs, and trauma associated with the decline of the socialist period and political transformation in Poland should be stored in the young generation’s memory not only thanks to history teaching at school, but also their parents’ and grandparents’ memories. However, the knowledge is not sufficient for adequate translation from Polish to Russian. The article presents the results of questionnaire surveys conducted among primary schools pupils in the Rzeszów region and Russian Philology students at the University of Rzeszów. The young generation’s memory of the decline of Polish People’s Republic and the texts translated by students of the translation speciality are discussed.