bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical Outcomes and Live Birth Rate Resulted From Microdissection Testicular Sperm Extraction With ICSI-IVF in Non-Obstructive Azoospermia: A Single-Center Cohort Study
Authors: Lan Yu , Zheng Haiyan , Fu Xin , Peng Tianwen , Liao Chen , Liu Jianan , Liu Min , An Geng 
Published: June 2022

BackgroundMost of data available in the literature reported the sperm retrieval rate and limited intracytoplasmic sperm injection (ICSI) results of microdissection testicular sperm extraction (micro-TESE) in non-obstructive azoospermia (NOA) patients with different etiologies. Unfortunately, there is currently a lack of comprehensive data to guide clinicians in conducting comprehensive consultations with NOA patients.ObjectivesTo obtain more comprehensive evidence-based data and clinical outcomes for better consultation of NOA patients who opted to undergo micro-TESE combined with ICSI-IVFMethodsIt was a retrospective study involved 968 NOA patients underwent micro-TESE during January 2015 to December 2019. Embryological, clinical, and live birth outcomes were demonstrated comprehensively and three kinds of stratification analyses were performed based on ICSI-IVF cycles using frozen and fresh sperm, different etiologies of NOA and various amounts of sperm retrieved.ResultsThe sperm retrieval rate was 44.6%, and ICSI was performed in 299 couples leading to 150 clinical pregnancies and 140 live-birth deliveries. The clinical pregnancy rate (CPR) was 50.17%, and the cumulative live birth rate (LBR) was 46.82%, and the low birth defects rate was 1.43%. No significant difference was observed about cumulative LBR in frozen sperm group and fresh sperm group (47.5% vs 42.9%,P&gt;0.05). NOA patients with AZFc microdeletions had the lowest rate of a high-score embryo on day 3 (4.4%,P&lt;0.05) and the lowest cumulative LBR (19.4%,P&lt;0.05). NOA patients with lower sperm count (having fewer than 20 sperms retrieved) had significantly lower cumulative LBR than those with higher sperm count (having more than 20 sperms retrieved) (28.1% vs 51.9%,P&lt;0.05).ConclusionsFor those NOA patients who stepped in ICSI-IVF cycles, the cumulative LBR was 46.82%. No significant difference was indicated in the LBR between ICSI-IVF cycles using frozen or fresh testicular sperm. Compared to other etiologies, NOA caused by AZFc microdeletions have the poorest embryological and clinical outcomes. Patients with less testicular sperm retrieved have poorer embryological and clinical outcomes.
A Reliable Estimate of Visceral Fat Area From Simple Anthropometric Measurements in Chinese Overweight and Obese Individuals
Authors: Liu Hanying , Yang Di , Li Shaobo , Xiao Yunfeng , Tu Yinfang , Peng Danfeng , Bao Yuqian , Han Junfeng , Yu Haoyong 
Published: June 2022

ObjectiveVisceral obesity, reflected by the amount of visceral adipose tissue (VAT), is associated with multiple chronic diseases and metabolic disorders. The visceral fat area (VFA), measured by MRI, is the ‘gold standard’ for diagnosis of visceral obesity. In this study, a simple model to predict VFA was constructed to facilitate the identification and monitoring of patients who are at high risk of visceral obesity.MethodsThe 721 overweight and obese participants were divided into two groups according to sex, then randomly assigned to derivation and validation cohorts in a 1:2 ratio. Data from the derivation group were used to construct a multiple linear regression model; data from the validation group were used to verify the validity of the model.ResultsThe following prediction equations, applicable to both sexes, were developed based on age, waist circumference (WC) and neck circumference (NC) that exhibited strong correlations with the VFA: VFA=3.7×age+2.4×WC+5.5×NC-443.6 (R2 = 0.511, adjusted R2 = 0.481, for men) and VFA=2.8×age+1.7×WC+6.5×NC-367.3 (R2 = 0.442, adjusted R2 = 0.433, for women). The data demonstrated good fit for both sexes. A comparison of the predicted and actual VFA in the verification group confirmed the accuracy of the equations: for men, R2 = 0.489, adjusted R2 = 0.484 and intra-class correlation coefficient (ICC) = 0.653 (p &lt; 0.001) and for women: R2 = 0.538, adjusted R2= 0.536 and ICC = 0.672 (p &lt; 0.001). The actual and predicted VFAs also showed good agreement in a Bland-Altman plot, indicating the significant correlations of both equations with the actual VFA.ConclusionsBased on readily available anthropometric data, VFA prediction equations consisting of age, WC and NC were developed. The equations are robust, with good predictive power in both sexes; they provide ideal tools for the early detection of visceral obesity in Chinese overweight and obese individuals.
Application of Indocyanine Green Angiography in Bilateral Axillo-Breast Approach Robotic Thyroidectomy for Papillary Thyroid Cancer
Authors: Ouyang Hui , Wang Baojia , Sun Botao , Cong Rong , Xia Fada , Li Xinying 
Published: June 2022

BackgroundIndocyanine green angiography (ICGA) has been used to identify and preserve the parathyroid glands (PGs), and to evaluate PGs viability and function during thyroid surgery. However, evidence on the utilization of IGCA in thyroid cancer and robotic surgery is lacking. The efficacy of IGCA remains to be evaluated in PTC patients undergoing bilateral axillo-breast approach robotic thyroidectomy (BABA RT) and central neck dissection (CND).MethodsFrom March 2020 to August 2021, 81 papillary thyroid cancer (PTC) patients receiving total thyroidectomy and CND were enrolled in this retrospective analysis. An intravenous bolus of 7.5 mg ICG was administrated three times in the ICGA group (n=34). Medical records were reviewed and analyzed, including the baseline characteristics, surgical parameters, PGs-related parameters, and perioperative PTH and calcium levels.ResultsThe mean number of total identified PGs and preserved PGs were significantly more in the ICG group than in the control group (3.74 ± 0.45 vs. 3.15 ± 0.55, P&lt;0.001; 3.12 ± 0.64 vs. 2.74 ± 0.57, P=0.007, respectively), as were PTH and calcium levels on POD 1 (23.16 ± 18.32 vs. 6.06 ± 7.74, P=0.039; 2.13 ± 0.11 vs. 2.08 ± 0.08, P=0.024, respectively). While there were no differences in PTH levels on POD 30. Additionally, patients with at least one well vascularized PG had higher ioPTH 3 and PTH on POD 1, which significantly suggested the absence of postoperative hypocalcemia. Although not statistically significant, ICGA seemed superior to relative ioPTH decline and ioPTH 3 in predicting postoperative hypocalcemia.ConclusionIn PTC patients undergoing BABA RT and CND, ICGA is a simple, safe, effective, and cost-effective tool in better identification and preservation of PGs as well as evaluation of PGs viability and function, with the potential to preserve more PGs, guide more appropriate autotransplantation, and accurately predict postoperative hypocalcemia.
A Multicenter Cohort Study in Patients With Primary Empty Sella: Hormonal and Neuroradiological Features Over a Long Follow-Up
Authors: Carosi Giulia , Brunetti Alessandro , Mangone Alessandra , Baldelli Roberto , Tresoldi Alberto , Del Sindaco Giulia , Lavezzi Elisabetta , Sala Elisa , Mungari Roberta , Fatti Letizia Maria , Galazzi Elena , Ferrante Emanuele , Indirli Rita , Biamonte Emilia , Arosio Maura , Cozzi Renato , Lania Andrea , Mazziotti Gherardo , Mantovani Giovanna 
Published: June 2022

Objectiveprimary empty sella (PES) represents a frequent finding, but data on hormonal alterations are heterogeneous, and its natural history is still unclear. Our aim was to evaluate the pituitary function of patients with PES over a long follow-up.Designmulticenter retrospective cohort study enrolling patients referred between 1984-2020 to five Pituitary Units, with neuroradiological confirmed PES and a complete hormonal assessment.Methodswe analyzed hormonal (including basal and dynamic evaluations), clinical and neuroradiological data collected at diagnosis and at the last visit (at least 6 months of follow-up).Resultswe recruited 402 patients (females=63%, mean age=51.5 ± 16 years) with PES (partial, total, undefined in 66%, 13% and 21%, respectively). Hypopituitarism was present in 40.5% (hypogonadism=20.4%, hypoadrenalism=14.7%, growth hormone deficiency=14.7%, hypothyroidism=10.2%, diabetes insipidus=1.5%; multiple deficiencies=11.4%) and hypeprolactinemia in 6.5%. Interestingly, hormonal alterations were diagnosed in 29% of incidental PES. Hypopituitarism was associated with male sex (p=0.02), suspected endocrinopathy (p&lt;0.001), traumatic brain injury (p=0.003) and not with age, BMI, number of pregnancies and neuroradiological grade. A longitudinal assessment was possible in 166/402 (median follow-up=58 months). In 5/166 (3%), new deficiencies occurred, whereas 14/166 (8.4%) showed a hormonal recovery. A progression from partial to total PES, which was found in 6/98 patients assessed with a second imaging, was the only parameter significantly related to the hormonal deterioration (p=0.006).Conclusionsthis is the largest cohort of patients with PES reported. Hypopituitarism is frequent (40%) but hormonal deterioration seems uncommon (3%). Patients need to be carefully evaluated at diagnosis, even if PES is incidentally discovered.
Associations of Uric Acid With Liver Steatosis and Fibrosis Applying Vibration Controlled Transient Elastography in the United States: A Nationwide Cross-Section Study
Authors: Duan Hualin , Zhang Rong , Chen Xingying , Yu Genfeng , Song Cheng , Jiang Yuqi , He Yajun , Wan Heng , Shen Jie 
Published: June 2022

Background and objectiveSerum uric acid (UA) is related to many metabolic diseases. However, the association of UA with liver diseases was not very clear. The objective of this study is to clarify the relationship of UA with liver steatosis and fibrosis.MethodsThis is a cross-sectional study of 4364 people of National Health and Nutrition Examination Survey (NHANES) 2017-2018. Liver steatosis and fibrosis were assessed by controlled attenuation parameter (CAP) and liver stiffness measurements (LSM) using Vibration-controlled transient elastography (VCTE). Linear and logistic regressions were performed.ResultsAfter adjusting for potential confounders, UA levels were associated with the prevalence of liver steatosis [OR=2.097 (95%CI: 1.245, 3.534)] and liver fibrosis [OR=2.983 (95%CI: 1.797, 4.952)]. Furthermore, the results were consistent in the subgroup analyses of males and females.ConclusionsUA levels were positively associated with the prevalence of liver steatosis and fibrosis.
Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review
Authors: Zhang Wei , Mao Jiangfeng , Wang Xi , Sun Bang , Zhao Zhiyuan , Zhang Xiaoxia , Nie Min , Wu Xueyan 
Published: June 2022

Purpose: Patients with syndromic 46, XY disorders/differences of sex development (DSD) are characterized by gonadal and phenotypic genders inconsistent with their chromosomal sexes as well as abnormalities of multiple extragonadal organs. They are caused by mutations in specific genes, which are expressed in the affected organs and regulate their development, and over fourteen genes have been identified. In this study, we aimed to determine the underlying cause of a patient with syndromic 46, XY DSD and review the clinical presentations and genetic findings of all reported similar cases.Methods: Whole-exome sequencing (WES) was performed to find a molecular cause of the patient. In silico tools were used to analyze the pathogenicity of the variants. Reports of cases with similar clinical features and involved genes were summarized by searching through PubMed/MEDLINE using keywords “PPP2R3C” or “G5PR” and “46,XY disorders of sex development”.Results: Compound heterozygous variants (p.F229del/p.G417E) in PPP2R3C were identified in the 24-year-old female by WES and verified by Sanger sequencing. The patient presents complete testicular dysgenesis, low birth weight, facial deformity, cubitus valgus, and decreasing number of CD19+ B lymphocytes and CD4+ T lymphocytes. A total of thirteen 46, XY DSD cases with four homozygous PPP2R3C mutations (p.Leu103Pro, p.Leu193Ser, p.Phe350Ser, and p.Ser216_Tyr218dup) have been reported previously, and their clinical manifestations are roughly similar to those of our patient.Conclusion: Novel compound heterozygous variants in PPP2R3C cause specific syndromic 46, XY gonadal dysgenesis, which broadened the pathogenic variants spectrum of PPP2R3C. The typical phenotype of PPP2R3C mutation is complete 46, XY gonadal dysgenesis with multiple extragonadal anomalies, including facial deformities, skeletal system abnormalities, muscle abnormalities, impaired nervous system, impaired hearing and vision, heart and kidney anomalies, and gastrointestinal dysfunction.
Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India
Authors: Vignesh Pandiarajan , Anjani Gummadi , Kumrah Rajni , Singh Ankita , Mondal Sanjib , Nameirakpam Johnson , Jindal Ankur , Suri Deepti , Sharma Madhubala , Kaur Gurjit , Sharma Sathish , Gupta Kirti , Sreedharanunni Sreejesh , Rawat Amit , Singh Surjit 
Published: June 2022

BackgroundHemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled and excessive inflammation leading to high mortality. Aetiology of HLH can be primarily due to genetic causes or secondarily due to infections or rheumatological illness. However, rarely T-cell deficiencies like severe combined immunodeficiency (SCID) can develop HLH.ObjectiveTo describe clinical and laboratory features of SCID cases who developed HLH.MethodsWe collected clinical, laboratory, and molecular details of patients with SCID who developed HLH at our center at Chandigarh, North India.ResultsOf the 94 cases with SCID, 6 were noted to have developed HLH-like manifestations. Male-female ratio was 5:1. Median (inter-quartile range) age of onset of clinical symptoms was 4.25 months (2-5 months). Median (inter-quartile range) delay in diagnosis was 1 month (1-3.5 months). Family history of deaths was seen in 4 cases. Molecular defects inIL2RGwere seen in 5 out of 6 cases. Documented infections include disseminated bacillus calmette-guerin (BCG) infection (n=2), blood stream infections (n=3) withStaphylococcal aureus(n=1),Klebsiella pneumonia(n=1), andPseudomonas aeruginosa(n=1), pneumonia (influenza H1N1 strain, and K.pneumoniae(n=1).ConclusionChildren with SCID can present with HLH-like manifestations secondary to fulminant infections. A high index of suspicion of SCID is needed in infants who present with HLH who have an associated infection or a suggestive family history. Occurrence of HLH-like manifestations in SCID suggests that T-lymphocytes may not have a significant role in immunopathogenesis of HLH.
An Observation-Based Study of Gulf Stream Meander Kinematics Offshore of Cape Hatteras
Authors: Muglia Mike , Seim Harvey , Bane John , Taylor Patterson 
Published: June 2022

Gulf Stream (GS) meander structure and propagation offshore of Cape Hatteras are investigated by integrating current measurements from a bottom-moored Acoustic Doppler Current Profiler (ADCP) with high-frequency radar (HFR) surface current measurements and satellite Sea Surface Temperature (SST) images during November 2014. The ADCP measurements provide well-resolved current observations throughout most of the water column, while hourly surface current measurements from HF radars and available satellite SST images provide spatial context to the GS orientation, meander propagation, circulation, and shear structure in the region of the ADCP mooring. The observations provide new insights about meander propagation and evolution in this important transition region. ADCP measurements observed that the increase and deepening intervals of the downstream current with approaching meander crests were typically longer than those for the decrease and shoaling of downstream current, consistent with prominent skewed crests near the surface. The transition time from trough to crest is much greater than that from crest to trough, reflecting the asymmetry in the downstream velocity structure. Vertical shears in the downstream and cross-stream velocity components are indicative of a cold dome centered downslope and offshore of the ADCP. Local maxima in downstream current and bottom temperature at the ADCP occur simultaneously, are accompanied by large vertical velocities, and are led by offshore currents in the upper water column. The mean meander phase speed estimated with HFRs is 48 km/day. Meander periods during the month are about 5-6 days. Where the maxima are seen in the water column, downstream currents reach 2.5 m/s, with current reversals sometimes in excess of 0.5 m/s. Downstream currents occupy an increasing portion of the water column as a crest approaches, and a decreasing fraction as a trough approaches. The deepening increase in downstream velocities with approaching crests is often accompanied by an increase in upstream velocities near the bottom.
The Burden of Osteoarthritis in the Middle East and North Africa Region From 1990 to 2019
Authors: Shamekh Ali , Alizadeh Mahasti , Nejadghaderi Seyed Aria , Sullman Mark J. M. , Kaufman Jay S. , Collins Gary S. , Kolahi Ali-Asghar , Safiri Saeid 
Published: June 2022

ObjectiveWe aimed to report the most current data on the prevalence, incidence, and years lived with disability (YLDs) associated with osteoarthritis (OA) for the 21 countries and territories located in the Middle East and North Africa (MENA) region from 1990 to 2019 by age, sex, cause, and sociodemographic index (SDI).MethodsPublicly available data from the Global Burden of Disease 2019 study were used to report the OA-related burden. Estimates are reported as counts and age-standardized rates, along with their corresponding 95% uncertainty intervals (UIs).ResultsIn 2019, the age-standardized prevalence of OA in MENA was 5,342.8 per 100,000 (95% UI: 4,815.9–5,907.8), which is 9.3% higher than in 1990 (8.1–10.5%). Similarly, the age-standardized annual incidence of OA per 100,000 was 430.4 (382.2–481.9), demonstrating a 9.4% increase since 1990 (8.3–10.5). OA was the cause of 185.4 (92.8–370.2) age-standardized YLDs per 100,000 in 2019, which was 10% higher than in 1990 (8.7–11.4). Saudi Arabia, Kuwait, and Iran had the highest OA burden in MENA, while Yemen, Afghanistan, and Sudan had the lowest burden. In all MENA countries, OA affected more women than men, had an increasing burden with increased age, and had the highest impact on the knee, hip, and hand joints, respectively. OA was also positively associated with the SDI.ConclusionThe burden of OA increased over 1990–2019 in the MENA region. The study emphasizes the importance of early preventative approaches in order to control any future health, economic, and quality of life crises imposed by OA in this region.
Genome-Wide Association Study and Gene-Based Analysis of Participants With Hemophilia A and Inhibitors in the My Life, Our Future Research Repository
Authors: Lessard Samuel , He Chunla , Rajpal Deepak K. , Klinger Katherine , Loh Christine , Harris Tim , Dumont Jennifer 
Published: June 2022

IntroductionUp to 30% of individuals with hemophilia A develop inhibitors to replacement factor VIII (FVIII), rendering the treatment ineffective. The underlying mechanism of inhibitor development remains poorly understood. The My Life, Our Future Research Repository (MLOF RR) has gathered F8 and F9 mutational information, phenotypic data, and biological material from over 11,000 participants with hemophilia A (HA) and B as well as carriers enrolled across US hemophilia treatment centers, including over 5,000 whole-genome sequences. Identifying genes associated with inhibitors may contribute to our understanding of why certain patients develop those neutralizing antibodies.Aim and MethodsHere, we performed a genome-wide association study and gene-based analyses to identify genes associated with inhibitors in participants with HA from the MLOF RR.ResultsWe identify a genome-wide significant association within the human leukocyte antigen (HLA) locus in participants with HA with F8 intronic inversions. HLA typing revealed independent associations with the HLA alleles major histocompatibility complex, class II, DR beta 1 (HLA DRB1*15:01) and major histocompatibility complex, class II, DQ beta 1 (DQB1*03:03). Variant aggregation tests further identified low-frequency variants within GRID2IP (glutamate receptor, ionotropic, delta 2 [GRID2] interacting protein 1) significantly associated with inhibitors.ConclusionOverall, our study confirms the association of DRB1*15:01 with FVIII inhibitors and identifies a novel association of DQB1*03:03 in individuals with HA carrying intronic inversions of F8. In addition, our results implicate GRID2IP, encoding GRID2-interacting protein, with the development of inhibitors, and suggest an unrecognized role of this gene in autoimmunity.
Differential Patterns of Domain-Specific Cognitive Complaints and Awareness Across the Alzheimer’s Disease Spectrum
Authors: Cacciamani Federica , Godefroy Valérie , Brambati Simona M. , Migliaccio Raffaella , Epelbaum Stéphane , Montembeault Maxime 
Published: June 2022

Background: Characterizing self- and informant-reported cognitive complaints, as well as awareness of cognitive decline (ACD), is useful for an early diagnosis of Alzheimer’s disease (AD). However, complaints and ACD related to cognitive functions other than memory are poorly studied. Furthermore, it remains unclear which source of information is the most useful to distinguish various groups on the AD spectrum.Methods: Self- and informant-reported complaints were measured with the Everyday Cognition questionnaire (ECog-Subject and ECog-StudyPartner) in four domains (memory, language, visuospatial, and executive). ACD was measured as the subject-informant discrepancy in the four ECog scores. We compared the ECog and ACD scores across cognitive domains between four groups: 71 amyloid-positive individuals with amnestic AD, 191 amnestic mild cognitive impairment (MCI), or 118 cognitively normal (CN), and 211 amyloid-negative CN controls, selected from the ADNI database. Receiver operating characteristic curves analysis was performed to evaluate the accuracy of the ECog and ACD scores in discriminating clinical groups.Results: Self- and informant-reported complaints were generally distributed as follows: memory, language, executive, and visuospatial (from the most severe to the least severe). Both groups of CN participants presented on average more memory and language complaints than their informant. MCI participants showed good agreement with their informants. AD participants presented anosognosia in all domains, but especially for the executive domain. The four ECog-StudyPartner sub-scores allowed excellent discrimination between groups in almost all classifications and performed significantly better than the other two classifiers considered. The ACD was excellent in distinguishing the participants with AD from the two groups of CN participants. The ECog-Subject was the least accurate in discriminating groups in four of the six classifications performed.Conclusion: In research, the study of complaint and anosognosia should not be reduced solely to the memory domain. In clinical practice, non-amnestic complaints could also be linked to Alzheimer’s disease. The presence of an informant also seems necessary given its accuracy as a source of information.