bluuebunny/crossref_metadata_2025_split huggingface dataset:
Early Detection of Abnormal Growth Associated with Juvenile Acquired Hypothyroidism
Authors: Saari Antti , Pokka Jari , Mäkitie Outi , Saha Marja-Terttu , Dunkel Leo , Sankilampi Ulla 
Published: November 2020

Abstract

Context
Development of the typical growth phenotype in juvenile acquired hypothyroidism (JHT), the faltering linear growth with increasing weight, has not been thoroughly characterized.

Objective
To describe longitudinal growth pattern in children developing JHT and investigate how their growth differs from the general population in systematic growth monitoring.

Design
Retrospective case-control study.

Setting
JHT cases from 3 Finnish University Hospitals and healthy matched controls from primary health care.

Patients
A total of 109 JHT patients aged 1.2 to 15.6 years (born 1983-2010) with 554 height and weight measurements obtained for 5 years preceding JHT diagnosis. Each patient was paired with 100 healthy controls (born 1983-2008) by sex and age. Longitudinal growth pattern was evaluated in mixed linear models. Growth monitoring parameters were evaluated using receiver operating characteristics analysis.

Results
At diagnosis, JHT patients were heavier (mean adjusted body mass index-for-age [BMISDS] difference, 0.65 [95% CI, 0.46-0.84]) and shorter (mean adjusted height-for-age deviation from the target height [THDEVSDS] difference, −0.34 [95% CI, −0.57 to −0.10]) than healthy controls. However, 5 years before diagnosis, patients were heavier (mean BMISDS difference, 0.33 [95% CI, 0.12-0.54]) and taller (mean THDEVSDS difference, 0.29 [95% CI, 0.06-0.52]) than controls. JHT could be detected with good accuracy when several growth parameters were used simultaneously in screening (area under the curve, 0.83 [95% CI, 0.78-0.89]).

Conclusions
Abnormal growth pattern of patients with JHT evolves years before diagnosis. Systematic growth monitoring would detect abnormal growth at an early phase of JHT and facilitate timely diagnosis of JHT.
Severity of Proteinuria Is Directly Associated With Risk of Hypothyroidism in Adults
Authors: Kwong Norra , Medici Marco , Marqusee Ellen , Wassner Ari J 
Published: November 2020

Abstract

Context
Proteinuria can cause or exacerbate hypothyroidism, possibly due to urinary loss of protein-bound thyroid hormone. However, the precise relationship between proteinuria and hypothyroidism remains unclear.

Objective
This work aimed to determine the prevalence of hypothyroidism in patients with proteinuria and the relationship between hypothyroidism and degree of proteinuria.

Design
A retrospective cohort study was conducted from December 1979 to March 2015.

Setting
This study was conducted at a large academic hospital.

Patients
All paired samples of urine protein and serum thyrotropin (TSH), measured within 24 hours, were obtained from adults (age &gt; 18 years) with at least one instance of urine protein greater than 0.2 g/day or mg/mg creatinine.

Main Outcome Measures
Samples were stratified by urine protein tertile. Mean TSH and risk of TSH elevation were compared among tertiles using analysis of covariance and generalized estimating equations controlled for age, sex, samples per patient, and levothyroxine treatment.

Results
A total of 2676 samples were identified from 2136 patients. Mean ± SE TSH (mIU/L) was increased in the highest tertile of urine protein (&gt; 1.75g/day) compared to the lower 2 tertiles (2.09 ± 0.07 vs 1.59 ± 0.07, 1.59 ± 0.06, P &lt; .001). The highest tertile had a greater prevalence of TSH greater than 5 mIU/L (17.2% vs 10.5%, 11.9%, P &lt; .001) but a similar risk of TSH greater than 5 mIU/L (odds ratio [OR] 1.44; 95% CI, 0.67-3.09, P = .35). The highest tertile also had a higher prevalence (6.2% vs 3.4%, 2.6%, P = .003) and risk (OR 1.72; 95% CI, 1.05-2.84, P = .008) of TSH greater than 10 mIU/L. Similar results were observed when comparing samples with nephrotic-range proteinuria (&gt; 3.5g/day) to those with lesser proteinuria.

Conclusion
Hypothyroidism is common among adults with proteinuria, and the risk of hypothyroidism is directly related to the severity of proteinuria.
Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two “Mild” Mutations
Authors: Ilany Jacob , Liu Jiayan , Welsch Christoph , Reznik-Wolf Haike , Levy-Lahad Ephrat , Auchus Richard J 
Published: November 2020

Abstract

Context
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents with different severities that correlate with the genotype. The salt-losing phenotype requires 2 alleles with “severe” mutations.

Case Description
We present a case of salt-losing 21-hydroxylase deficiency that was found to be homozygous for 2 “mild” pathogenic variants: V281L and S301Y. Both in silico and heterologous expression functional analysis demonstrated that co-occurrence of these 2 mutations in cis severely impairs the function of the 21-hydroxylase enzyme.

Conclusions
This case has important implications for genetic counseling. Regarding this combination of 2 “mild” variants as having mild phenotypic effects could lead to inappropriate counseling of heterozygote carriers.
Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention
Authors: Larrivée-Vanier Stéphanie , Magne Fabien , Hamdoun Elwaseila , Petryk Anna , Kibar Zoha , Van Vliet Guy , Deladoëy Johnny 
Published: November 2020

Abstract
In 3 Somalian siblings with severe nongoitrous congenital hypothyroidism, exome sequencing identified a variant in TSHR predicted to be benign in isoform 3 but leading to an intronic mutation in isoform 1 (NM_00369:c.692 + 130C&gt;A), which is the isoform expressed in the thyroid. This mutation creates a pseudoexon that results in a protein that, if transcribed, would lack the transmembrane domain, thereby hampering its expression at the cell surface. Our findings illustrate that the interpretation of exome analysis requires knowledge of the relevant isoform expression and of the biology of the disease. This is the first description of a deep intronic mutation creating a pseudoexon and inactivating the thyroid stimulating hormone (TSH) receptor.
Stimuli-responsive Molecular Springs Based on Single- and Multi-stranded Helical Structures
Authors: Ousaka Naoki , Yashima Eiji 
Published: November 2020

Abstract
A wide variety of synthetic molecular machines has been designed and synthesized to construct nanometer-scale assemblies whose molecular motions can be precisely controlled by external stimuli. A helical structure is one of the most intriguing structural motifs to realize such molecular machines, because of its unique spring-like shape that enables reversible extension and contraction motions. This short review highlights the recent progress in the synthesis, structures, and functions of synthetic molecular springs based on single- and multi-stranded helical structures.
Structured reporting of chest CT provides high sensitivity and specificity for early diagnosis of COVID-19 in a clinical routine setting
Authors: Gross Alexander , Heine Georg , Schwarz Martin , Thiemig Dorina , Gläser Sven , Albrecht Thomas 
Published: November 2020

Objectives:
Although chest CT has been widely used in patients with COVID-19, its role for early diagnosis of COVID-19 is unclear. We report the diagnostic performance of chest CT using structured reporting in a routine clinical setting during the early phase of the epidemic in Germany.

Methods:
Patients with clinical suspicion of COVID-19 and moderate-to-severe symptoms were included in this retrospective study. CTs were performed and reported before RT-PCR results (reference standard) became available. A structured reporting system was used that concluded in a recently described five-grade score (“CO-RADS”), indicating the level of suspicion for pulmonary involvement of COVID-19 from 1 = very low to 5 = very high. Structured reporting was performed by three Radiologists in consensus.

Results:
In 96 consecutive patients (50 male, mean age 64), RT-PCR was positive in 20 (21%) cases. CT features significantly more common in RT-PCR-positive patients were ground-glass opacities as dominant feature, crazy paving, hazy margins of opacities, and multifocal bilateral distribution (p &lt; 0.05). Using a cut-off point between CO-RADS 3 and 4, sensitivity was 90%, specificity 91%, positive predictive value 72%, negative predictive value 97%, and accuracy 91%. ROC analysis showed an AUC of 0.938.

Conclusions:
Structured reporting of chest CT with a five-grade scale provided accurate diagnosis of COVID-19. Its use was feasible and helpful in clinical routine.

Advances in knowledge:
Chest CT with structured reporting may be a provisional diagnostic alternative to RT-PCR testing for early diagnosis of COVID-19, especially when RT-PCR results are delayed or test capacities are limited.
Plasma calprotectin as a biomarker of mortality at antiretroviral treatment initiation in advanced HIV – pilot study
Authors: Kamau Faith W. , Gwela Agnes , Nyerere Andrew K. , Riitho Victor , Njunge James M. , Ngari Moses M. , Prendergast Andrew J. , Berkley James A. 
Published: November 2020

Background: In advanced HIV, significant mortality occurs soon after starting antiretroviral treatment (ART) in low- and middle-incomes countries. Calprotectin is a biomarker of innate response to infection and inflammatory conditions. We examined the association between plasma calprotectin collected before ART treatment and mortality among individuals with advanced HIV. Methods: We conducted a pilot case-cohort study among HIV infected adults and adolescents over 13 years old with CD4+ <100/mm3 at ART initiation at two Kenyan sites. Participants received three factorial randomised interventions in addition to ART within the REALITY trial (ISRCTN43622374). Calprotectin collected at baseline (before ART) and after 4 weeks of treatment was measured in archived plasma of those who died within 24 weeks (cases) and randomly selected participants who survived (non-cases). Association with mortality was assessed using Cox proportional hazards models with inverse sampling probability weights and adjusted for age, sex, site, BMI, viral load, randomised treatments, and clustered by CD4+ count (0-24, 25-49, and 50-99 cells/mm3). Results: Baseline median (IQR) plasma calprotectin was 6.82 (2.65–12.5) µg/ml in cases (n=39) and 5.01 (1.92–11.5) µg/ml in non-cases (n=58). Baseline calprotectin was associated with age, neutrophil count and the presence of cough, but not other measured indicators of infection. In adjusted multivariable models, baseline calprotectin was associated with subsequent mortality: HR 1.64 (95% CI 1.11 - 2.42) and HR 2.77 (95% CI 1.58 - 4.88) for deaths during the first twenty-four and four weeks respectively. Calprotectin levels fell between baseline and 4 weeks among both cases and non-cases irrespective of randomised interventions. Conclusions: Among individuals with advanced HIV starting ART in Kenya, plasma calprotectin may have potential as a biomarker of early mortality. Validation in larger studies, comparison with other biomarkers and investigation of the sources of infection and inflammation are warranted.
Psychological symptoms, quality of life and adherence to immunosuppressive therapy in kidney transplant recipients: a cross-sectional study
Authors: Dahiya Ujjwal , Prakesh Kamli , Mahajan Sandeep , Kumar Nand 
Published: November 2020

Aim: To assess psychological symptoms, quality of life and adherence to immunosuppressive therapy in kidney transplant recipients. Design: Cross-sectional study was conducted in kidney transplant recipients. Methods: This cross-sectional study included a total of 96 consecutive patients at least 3 months after kidney transplantation from September 2019 to November 2019. Psychological symptoms (anxiety, stress and depression) were assessed using the Depression, Anxiety and Stress Scale. The World Health Organization Quality of Life Instrument was used to assess quality of life in kidney transplant recipients. Adherence to immunosuppressive therapy was assessed by the Morisky Green Levine (MGL) adherence scale. The demographic and clinical details were assessed with a validated self-structured questionnaire. Results: The study included a young adult male population with a mean age of 38.82±10.53 years. The majority of patients reported at least some psychological abnormalities, with mild stress being the most common and presenting in 73% of patients. Importantly, 29% and 21% of patients reported anxiety and depression. Stress was significantly associated with gender, post-transplantation infection and hospitalisation. Anxiety was significantly associated with low family income and post-transplant complication of infection. Psychological symptoms significantly affected the various domains of quality of life of the patients. None of the surveyed patients had low adherence, while 56 (58.3%) had medium adherence to immunosuppressive therapy. Patients with medium adherence to immunosuppressive therapy had significantly lower scores in physical (p=0.01) and social relationship (p= 0.004) domains of quality of life. Conclusion: A significant number of young and stable kidney transplant recipients have presented with psychological symptoms (mainly depression) that affected their quality of life. The presence of psychological symptoms can not only hamper quality of life, but also affect their compliance to drugs. Impact: Psychological health is an important concern after kidney transplantation. Nurses should include assessment of psychological symptoms in their care that would further help in improving quality of life and adherence to drugs in kidney transplant recipients.
Predicting postoperative complications in patients undergoing lumbar spinal fusion by using the modified five-item frailty index and nutritional status
Authors: Kang TaeWook , Park Si Young , Lee Joon Suk , Lee Soon Hyuck , Park Jong Hoon , Suh Seung Woo 
Published: November 2020

Aims As the population ages and the surgical complexity of lumbar spinal surgery increases, the preoperative stratification of risk becomes increasingly important. Understanding the risks is an important factor in decision-making and optimizing the preoperative condition of the patient. Our aim was to determine whether the modified five-item frailty index (mFI-5) and nutritional parameters could be used to predict postoperative complications in patients undergoing simple or complex lumbar spinal fusion. Methods We retrospectively reviewed 584 patients who had undergone lumbar spinal fusion for degenerative lumbar spinal disease. The 'simple' group (SG) consisted of patients who had undergone one- or two-level posterior lumbar fusion. The 'complex' group (CG) consisted of patients who had undergone fusion over three or more levels, or combined anterior and posterior surgery. On admission, the mFI-5 was calculated and nutritional parameters collected. Results Complications occurred in 9.3% (37/396) of patients in the SG, and 10.1% (19/167) of patients in the CG. In the SG, the important predictors of complications were age (odds ratio (OR) 1.036; p = 0.002); mFI-5 (OR 1.026 to 2.411, as score increased to 1 ≥ 2 respectively; p = 0.023); albumin (OR 11.348; p < 0.001); vitamin D (OR 2.185; p = 0.032); and total lymphocyte count (OR 1.433; p = 0.011) . In the CG, the predictors of complications were albumin (OR 9.532; p = 0.002) and vitamin D (OR 3.815; p = 0.022). Conclusion The mFI-5 and nutritional status were effective predictors of postoperative complications in the SG, but only nutritional status was successful in predicting postoperative complications in the CG. The complexity of the surgery, as well as the preoperative frailty and nutritional status of patients, should be considered when determining if it is safe to proceed with lumbar spinal fusion. Cite this article: Bone Joint J 2020;102-B(12):1717–1722.
161  W middle infrared ZnGeP2 MOPA system pumped by 300  W-class Ho:YAG MOPA system
Authors: Liu Gaoyou , Mi Shuyi , Yang Ke , Wei Disheng , Li Junhui , Yao Baoquan , Yang Chao , Dai Tongyu , Duan Xiaoming , Tian Lixin , Ju Youlun 
Published: November 2020

We demonstrated a high-power

Q

-switched two-stage Ho:YAG master-oscillator power-amplifier (MOPA) system dual-end pumped by Tm:YLF lasers. A new method was introduced by rotating and swapping spatial axial directions of pump beams to improve the beam quality of the Ho:YAG oscillator and first-stage amplifier. Two parallel second-stage Ho:YAG amplifiers were employed to output high power. A total maximum average output power of 332 W at 2091 nm with pulse repetition frequency of 20 kHz was achieved. Then a

Z
n
G
e
P

2

MOPA system was demonstrated using the Ho:YAG MOPA as the pump source. A maximum average output power of 161 W at 3–5 µm was obtained with 290 W incident Ho pump power, corresponding to beam quality factors

M
2

of 3.42 and 3.83 for horizontal and vertical directions, respectively.
Cardiomyocyte Oga haploinsufficiency increases O-GlcNAcylation but hastens ventricular dysfunction following myocardial infarction
Authors: Dassanayaka Sujith , Brittian Kenneth R. , Long Bethany W. , Higgins Lauren A. , Bradley James A. , Audam Timothy N. , Jurkovic Andrea , Gumpert Anna M. , Harrison Linda T. , Hartyánszky István , Perge Péter , Merkely Béla , Radovits Tamás , Hanover John A. , Jones Steven P. 
Published: November 2020

Rationale
The beta-O-linkage of N-acetylglucosamine (i.e., O-GlcNAc) to proteins is a pro-adaptive response to cellular insults. To this end, increased protein O-GlcNAcylation improves short-term survival of cardiomyocytes subjected to acute injury. This observation has been repeated by multiple groups and in multiple models; however, whether increased protein O-GlcNAcylation plays a beneficial role in more chronic settings remains an open question.

Objective
Here, we queried whether increasing levels of cardiac protein O-GlcNAcylation would be beneficial during infarct-induced heart failure.

Methods and results
To achieve increased protein O-GlcNAcylation, we targeted Oga, the gene responsible for removing O-GlcNAc from proteins. Here, we generated mice with cardiomyocyte-restricted, tamoxifen-inducible haploinsufficient Oga gene. In the absence of infarction, we observed a slight reduction in ejection fraction in Oga deficient mice. Overall, Oga reduction had no major impact on ventricular function. In additional cohorts, mice of both sexes and both genotypes were subjected to infarct-induced heart failure and followed for up to four weeks, during which time cardiac function was assessed via echocardiography. Contrary to our prediction, the Oga deficient mice exhibited exacerbated—not improved—cardiac function at one week following infarction. When the observation was extended to 4 wk post-MI, this acute exacerbation was lost.

Conclusions
The present findings, coupled with our previous work, suggest that altering the ability of cardiomyocytes to either add or remove O-GlcNAc modifications to proteins exacerbates early infarct-induced heart failure. We speculate that more nuanced approaches to regulating O-GlcNAcylation are needed to understand its role—and, in particular, the possibility of cycling, in the pathophysiology of the failing heart.
Post-load glucose subgroups and associated metabolic traits in individuals with type 2 diabetes: An IMI-DIRECT study
Authors: Obura Morgan , Beulens Joline W. J. , Slieker Roderick , Koopman Anitra D. M. , Hoekstra Trynke , Nijpels Giel , Elders Petra , Koivula Robert W. , Kurbasic Azra , Laakso Markku , Hansen Tue H. , Ridderstråle Martin , Hansen Torben , Pavo Imre , Forgie Ian , Jablonka Bernd , Ruetten Hartmut , Mari Andrea , McCarthy Mark I. , Walker Mark , Heggie Alison , McDonald Timothy J. , Perry Mandy H. , De Masi Federico , Brunak Søren , Mahajan Anubha , Giordano Giuseppe N. , Kokkola Tarja , Dermitzakis Emmanouil , Viñuela Ana , Pedersen Oluf , Schwenk Jochen M. , Adamski Jurek , Teare Harriet J. A. , Pearson Ewan R. , Franks Paul W. , ‘t Hart Leen M. , Rutters Femke ,   for the IMI-DIRECT Consortium
Published: November 2020

Aim
Subclasses of different glycaemic disturbances could explain the variation in characteristics of individuals with type 2 diabetes (T2D). We aimed to examine the association between subgroups based on their glucose curves during a five-point mixed-meal tolerance test (MMT) and metabolic traits at baseline and glycaemic deterioration in individuals with T2D.

Methods
The study included 787 individuals with newly diagnosed T2D from the Diabetes Research on Patient Stratification (IMI-DIRECT) Study. Latent class trajectory analysis (LCTA) was used to identify distinct glucose curve subgroups during a five-point MMT. Using general linear models, these subgroups were associated with metabolic traits at baseline and after 18 months of follow up, adjusted for potential confounders.

Results
At baseline, we identified three glucose curve subgroups, labelled in order of increasing glucose peak levels as subgroup 1–3. Individuals in subgroup 2 and 3 were more likely to have higher levels of HbA1c, triglycerides and BMI at baseline, compared to those in subgroup 1. At 18 months (n = 651), the beta coefficients (95% CI) for change in HbA1c (mmol/mol) increased across subgroups with 0.37 (-0.18–1.92) for subgroup 2 and 1.88 (-0.08–3.85) for subgroup 3, relative to subgroup 1. The same trend was observed for change in levels of triglycerides and fasting glucose.

Conclusions
Different glycaemic profiles with different metabolic traits and different degrees of subsequent glycaemic deterioration can be identified using data from a frequently sampled mixed-meal tolerance test in individuals with T2D. Subgroups with the highest peaks had greater metabolic risk.
De-novo malignancies after kidney transplantation: A long-term observational study
Authors: Fröhlich Felix A. , Halleck Fabian , Lehner Lukas , Schrezenmeier Eva V. , Naik Marcel , Schmidt Danilo , Khadzhynov Dmytro , Kast Katharina , Budde Klemens , Staeck Oliver 
Published: November 2020

BackgroundDe-novo malignancies after kidney transplantation represent one major cause for mortality after transplantation. However, most of the studies are limited due to small sample size, short follow-up or lack of information about cancer specific mortality.MethodsThis long-term retrospective analysis included all adult patients with complete follow-up that underwent kidney transplantation between 1995 and 2016 at our centre. All patients with diagnosis of malignancy excluding non-melanoma skin cancer (NMSC) were identified and a matched control group was assigned to the kidney transplant recipients with post-transplant malignancies.Results1417 patients matched the inclusion criteria. 179 malignancies posttransplant were diagnosed in 154 patients (n = 21 with two, n = 2 patients with three different malignancies). Mean age at cancer diagnosis was 60.3±13.3 years. Overall incidence of de-novo malignancies except NMSC was 1% per year posttransplant. Renal cell carcinoma was the most common entity (n = 49, incidence 4.20 per 1000 patient years; cancer specific mortality 12%), followed by cancer of the gastro-intestinal tract (n = 30, 2.57; 50%), urinary system (n = 24, 2.06; 13%), respiratory system (n = 18, 1.54; 89%), female reproductive system (n = 15, 1.29; 13%), posttransplant lymphoproliferative disorders and haematological tumours (n = 14, 1.20; 21%), cancers of unknown primary (n = 7, 0.60 100%) and others (n = 22, 1.89; 27%). Male sex, re-transplantation and time on dialysis were associated with de-novo malignancies after transplantation.ConclusionDe-novo malignancies continue to be a serious problem after kidney transplantation. To improve long-term outcome after Kidney transplantation, prevention and cancer screening should be more tailored and intensified.