bluuebunny/crossref_metadata_2025 huggingface dataset:
Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations
Authors: Gutierrez-Rodrigues Fernanda , Groarke Emma M. , Thongon Natthakan , Rodriguez-Sevilla Juan Jose , Catto Luiz Fernando B. , Niewisch Marena R. , Shalhoub Ruba , McReynolds Lisa J. , Clé Diego V. , Patel Bhavisha A. , Ma Xiaoyang , Hironaka Dalton , Donaires Flávia S. , Spitofsky Nina , Santana Barbara A. , Lai Tsung-Po , Alemu Lemlem , Kajigaya Sachiko , Darden Ivana , Zhou Weiyin , Browne Paul V. , Paul Subrata , Lack Justin , Young David J. , DiNardo Courtney D. , Aviv Abraham , Ma Feiyang , De Oliveira Michel Michels , de Azambuja Ana Paula , Dunbar Cynthia E. , Olszewska Malgorzata , Olivier Emmanuel , Papapetrou Eirini P. , Giri Neelam , Alter Blanche P. , Bonfim Carmem , Wu Colin O. , Garcia-Manero Guillermo , Savage Sharon A. , Young Neal S. , Colla Simona , Calado Rodrigo T.
Published: September 2024

Telomere biology disorders (TBDs), caused by pathogenic germ line variants in telomere-related genes, present with multiorgan disease and a predisposition to cancer. Clonal hematopoiesis (CH) as a marker of cancer development and survival in TBDs is poorly understood. Here, we characterized the clonal landscape of a large cohort of 207 patients with TBD with a broad range of age and phenotype. CH occurred predominantly in symptomatic patients and in signature genes typically associated with cancers: PPM1D, POT1, TERT promoter (TERTp), U2AF1S34, and/or TP53. Chromosome 1q gain (Chr1q+) was the commonest karyotypic abnormality. Clinically, multiorgan involvement and CH in TERTp, TP53, and splicing factor genes were associated with poorer overall survival. Chr1q+ and splicing factor or TP53 mutations significantly increased the risk of hematologic malignancies, regardless of clonal burden. Chr1q+ and U2AF1S34 mutated clones were premalignant events associated with the secondary acquisition of mutations in genes related to hematologic malignancies. Similar to the known effects of Chr1q+ and TP53-CH, functional studies demonstrated that U2AF1S34 mutations primarily compensated for aberrant upregulation of TP53 and interferon pathways in telomere-dysfunctional hematopoietic stem cells, highlighting the TP53 pathway as a canonical route of malignancy in TBD. In contrast, somatic POT1/PPM1D/TERTp mutations had distinct trajectories unrelated to cancer development. With implications beyond TBD, our data show that telomere dysfunction is a strong selective pressure for CH. In TBD, CH is a poor prognostic marker associated with worse overall survival. The identification of key regulatory pathways that drive clonal transformation in TBD allows for the identification of patients at a higher risk of cancer development.
A weekly low-dose regimen of decitabine and venetoclax is efficacious and less myelotoxic in a racially diverse cohort
Authors: Goldfinger Mendel , Mantzaris Ioannis , Shastri Aditi , Saunthararajah Yogen , Gritsman Kira , Sica R. Alejandro , Kornblum Noah , Shah Nishi , Levitz David , Rockwell Bradley , Shapiro Lauren C. , Gupta Ridhi , Pradhan Kith , Xue Xiaonan , Munoz Anne , Dhawan Aradhika , Fehn Karen , Comas Monica , Verceles Jhannine Alyssa , Jonas Brian A. , Kambhampati Suman , Shi Yang , Braunschweig Ira , Cooper Dennis L. , Konopleva Marina , Feldman Eric J. , Verma Amit
Published: September 2024

A metronomic, low-dose schedule of decitabine and venetoclax was safe and effective in myeloid malignancies with few dose reductions or interruptions in an older diverse population. Median overall survival for patients with acute myeloid leukemia and a TP53-mutation was 16.1 and 11.3 months, respectively. This trial was registered at www.clinicaltrials.gov as #NCT05184842.
Pretransplant MRD detection of fusion transcripts is strongly prognostic in KMT2A-rearranged acute myeloid leukemia
Authors: Loo Sun , Potter Nicola , Ivey Adam , O’Nions Jenny , Moon Roderick , Jovanovic Jelena , Fong Chun Y. , Anstee Natasha S. , Tiong Ing Soo , Othman Jad , Chua Chong Chyn , Renshaw Hanna , Baker Robert , Fleming Shaun , Russell Nigel H. , Ritchie David , Bajel Ashish , Hou Hsin-An , Dillon Richard , Wei Andrew H.
Published: September 2024

Pretransplant detection of KMT2Ar measurable residual disease ≥0.001% by quantitative polymerase chain reaction was associated with significantly inferior posttransplant survival (2-year relapse-free survival 17% vs 59%; P = .001) and increased 2-year cumulative incidence of relapse (75% vs 25%, P = .0004).
Neurodevelopmental outcome at two years of age and predictive value of General Movement Assessment in infants exposed to alcohol and/or drugs during pregnancy: a prospective cohort study
Authors: Fjørtoft Toril , Brandal Merethe , Adde Lars , Osland Siril , Rygh Hilde , Ustad Tordis , Evensen Kari Anne I.
Published: September 2024

Background

Exposure to alcohol and/or other addictive drugs in pregnancy is a documented risk factor for neurological impairment. We aimed to assess neurodevelopmental outcome at two years of age in infants exposed to prenatal alcohol and/or other addictive drugs and to examine the predictive value of early motor assessment.

Methods

This was a follow-up at two years of age in the prospective cohort study Children Exposed to Alcohol and/or Drugs in Intrauterine Life (CEADIL). The exposed group comprised 73 infants recruited from primary health care and included in a hospital follow-up programme at St. Olavs Hospital, Trondheim University Hospital, Norway. The control group comprised 93 healthy, unexposed infants recruited from the maternity ward at the same hospital. All children had been assessed by physiotherapists using the General Movement Assessment (GMA) at three months of age. Presence of fidgety movements, movement character and the Motor Optimality Score – Revised (MOS-R) were used. At two years of age, the children were assessed by trained examiners using the Bayley Scales of Infant and Toddler Development – Third Edition (BSID-III), Ages & Stages Questionnaires: Social-Emotional (ASQ:SE) and the Hollingshead Two-Factor Index of Social Position (SES).

Results

The cognitive, language and motor composite scores of BSID-III were considerably lower in the exposed group than in the control group. Mean differences adjusted for age and parental SES ranged from − 13.3 (95% confidence interval, CI: -18.6 to -8.0) to -17.7 (95% CI: -23.3 to -12.2). Suboptimal fidgety movements and monotonous movement character had high sensitivity (0.94 to 0.74), but low specificity (0.10 to 0.32), while sensitivity and specificity of the MOS-R was around 50 and 60%, respectively.

Conclusions

Neurodevelopmental outcome at two years of age was poorer in a group of children exposed to alcohol and/or drugs in pregnancy compared with a control group of healthy, unexposed children. Sensitivity of suboptimal fidgety movements and monotonous movement character at three months of age for later neurodevelopmental outcome was high to acceptable, but the MOS-R had limited sensitivity.
Prevalence and short-term clinical impacts of new-onset diabetes mellitus among patients with COVID-19 in jazan region, Saudi Arabia
Authors: Mohamed Amal H. , Darraj Majid , Yassin Abuobaida , Somaili Mohammed , Sayed Ahmed , Oraibi Omar , Mohrag Mostafa , Madkhali Mohammed Ali , Alqassimi Sameer , Madkhali Mohammed A.
Published: September 2024

Background

Diabetes Mellitus is a major predictor for severity and mortality that is increased by 50% in COVID-19 infection. The aim of this study is to estimate the prevalence of new-onset DM among patients with COVID-19 and examined the short clinical outcomes of the disease.

Method

This is a retrospective study of revising electronic medical records to assess the prevalence of new-onset DM in COVID-19 patients and its impact on the severity of the disease. Adult patients with confirmed COVID-19 during the period from June 2020 to December 2021 were enrolled.

Results

725 patients were included. 53.8% of them were males and 46.2 were females, the mean age was 43.35 ± 16.76. 13.2% were diabetics; 2.2% with preexisting DM and 11.0% had new-onset DM. 6.34% had coexisting medical conditions. DKA at presentation was observed in 6 patients (0.8%) of newly diagnosed DM. There is a significant correlation between age and family history (FH), and BMI and new-onset DM (P < 0.05). The overall mortality rate was 2.2%, and it was significantly higher in diabetics in comparison to non-diabetics (P < 0.001). 8.6% had persistent hyperglycemia after 4 months of follow-up.

Conclusion

The prevalence of COVID-19 related new-onset DM was correlated significantly with disease severity and mortality rate. Age, FH, and BMI, were the major predictors. We recommend that frequent monitoring of blood glucose for patients with COVID-19 infections to detect DM, therefore, prompt treatment can be initiated.
Barriers of Ukrainian refugees and migrants in accessing German healthcare
Authors: Davitian Karina , Noack Peter , Eckstein Katharina , Hübner Jutta , Ahmadi Emadaldin
Published: September 2024

Background

This study focused on Ukrainian refugees and migrants, a population that, with an ongoing war, is expected to grow in Germany. Over 1 million Ukrainians with exceptional legal status and access to public insurance in Germany significantly burden governmental services, especially German healthcare. It is thus essential to facilitate their integration into the healthcare system and ensure its proper usage. Identifying the obstacles Ukrainian refugees and migrants encounter while accessing healthcare services is crucial to ease their integration.

Methods

A qualitative study was conducted from February 2023 to April 2023. Thirty semi-structured interviews were performed with Ukrainian migrants and refugees. The interviews were transcribed verbatim, organized, and categorized. Thematic analysis was performed to identify barriers related to the use of German healthcare services. To assess possible differences in the experiences of Ukrainian refugees and migrants, the responses of these two groups for each topic were analysed separately.

Results

Ukrainian migrants and refugees experience similar barriers while accessing German healthcare services. Predominantly, language barriers and a lack of understanding of the German healthcare system posed the main barriers in both groups. Additionally, structural challenges, such as differences in referral processes, appointment scheduling, and consultation duration, presented further challenges.

Conclusion

This research study emphasizes the importance of addressing cultural and structural barriers to improve healthcare accessibility and utilization for Ukrainian refugees and migrants in Germany to better facilitate their integration into the healthcare system.
Application of microvascular ultrasound-assisted thyroid imaging report and data system in thyroid nodule risk stratification
Authors: Ma Guangrong , Chen Libin , Wang Yong , Luo Zhiyan , Zeng Yiqing , Wang Xue , Shi Zhan , Zhang Tao , Hong Yurong , Huang Pintong
Published: September 2024

Objectives

To establish superb microvascular imaging (SMI) based thyroid imaging reporting and data system (SMI TI-RADS) for risk stratification of malignancy in thyroid nodules.

Methods

In total, 471 patients, comprising 643 thyroid nodules, who received conventional ultrasound (US), SMI, and a final diagnosis were extensively analyzed. A qualitative assessment of US features of the nodules was performed followed by univariable and multivariable logistic regression analyses, leading to the construction of the SMI TI-RADS, which was further verified using internal and external validation cohorts.

Results

Among the stand-alone US, predictive factors were the shape and margins of the nodules, echogenicity and echogenic foci, vascularity, extrathyroidal extension, ring-SMI patterns, penetrating vascularity, flow-signal enlarged, and vascularity area ratio. SMI TI-RADS depicted an enhanced area under the receiver operating characteristic curve (AUC) of 0.94 (95% CI: 0.92, 0.96; p < 0.001 relative to other stratification systems), a 79% biopsy yield of malignancy (BYM, 189/240 nodules), and a 21% unnecessary biopsy rate (UBR, 51/240 nodules). In the verification cohorts, we demonstrated AUCs, malignancy biopsy yields, and unnecessary biopsy rates of 0.88 (95% CI: 0.83, 0.94), 79% (59/75 nodules), and 21% (16/75 nodules) for the internal cohort, respectively, and 0.91 (95% CI: 0.85, 0.96), 72% (31/43 nodules), and 28% (12/43 nodules) for the external cohort, respectively.

Conclusion

SMI TI-RADS was found to be superior in diagnostic sensitivity, specificity, and efficiency than existing TI-RADSs, showing better stratification of the malignancy risk, and thus decreasing the rate of unnecessary needle biopsy.

Critical relevance statement

To develop an imaging and data system based on conventional US and SMI features for stratifying the malignancy risk in thyroid nodules.

Key Points

SMI features could improve thyroid nodule risk stratification.

SMI TI-RADS showed superior diagnostic efficiency and accuracy for biopsy guidance.

SMI TI-RADS can provide better guidance for clinical diagnosis and treatment of thyroid nodules.

Graphical Abstract
Detecting and characterizing creeping fat in Crohn’s disease: agreement between intestinal ultrasound and computed tomography enterography
Authors: Zhou Mengyuan , Niu Zihan , Ma Li , Li Wenbo , Xiao Mengsu , He Yudi , Qin Jing , Jiang Yuxin , Liu Wei , Zhu Qingli
Published: September 2024

Objectives

Creeping fat (CF) is associated with stricture formation in Crohn’s disease (CD). This study evaluated the feasibility of intestinal ultrasound (IUS) for semiquantitative analysis of CF and compared the agreement between IUS and computed tomography enterography (CTE).

Methods

In this retrospective study, we recruited consecutive CD patients who underwent IUS and CTE. CF wrapping angle was analyzed on the most affected bowel segment and was independently evaluated by IUS and CTE. We evaluated the wrapping angle of CF in the cross- and vertical sections of the diseased bowel. CF wrapping angle was divided into < 180° and ≥ 180°. IUS performance was assessed using CTE as a reference standard, and IUS interobserver consistency was evaluated.

Results

We enrolled 96 patients. CTE showed that CF wrapping angle was < 180° in 35 patients and ≥ 180° in 61 patients. We excluded three cases in which the observation positions were inconsistent between the IUS and CTE. Excellent agreement was shown between US and CTE (82/93, 88.2%). The eleven remaining cases showed inconsistencies mostly in the terminal ileum (n = 5) and small intestine (n = 4). Total agreement between IUS observers was 89.6% (86/96, κ = 0.839, p = 0.000), with perfect agreement for the ileocecal and colonic segments (35/37, 94.6% and 20/21, 95.2%, respectively) and moderate agreement for small intestinal segments (16/21, 76.2%).

Conclusions

IUS could be of value and complementary to CTE for assessing CF, particularly in patients with affected terminal ileum and colon. IUS is a non-invasive technique for monitoring CD patients.

Critical relevance statement

In our study, excellent agreement was shown between intestinal US observers as well as between US and CT enterography (CTE) for assessing creeping fat (CF), which showed that ultrasound could be of value and complementary to CTE.

Key Points

Creeping fat (CF) is a potential therapeutic target in Crohn’s disease.

Excellent agreement was shown between US and CT Enterography (CTE) for assessing CF.

Ultrasound could be complementary to CTE for assessing CF.

Graphical Abstract
The immunoglobulin M-degrading enzyme of Streptococcus suis (IdeSsuis) leads to long-lasting inhibition of the activation of porcine IgM-secreting B cells
Authors: Breitfelder Annika Katharina , Schrödl Wieland , Baums Christoph Georg , Alber Gottfried , Müller Uwe
Published: September 2024

Streptococcus suis(S. suis) is one of the most important porcine pathogens, causing severe pathologies such as meningitis or polyarthritis. It is also a very successful colonizer of mucosal surfaces. The IgM-degrading enzyme ofS. suis(IdeSsuis) specifically cleaves porcine IgM, which results in complement evasion. On the basis of our previous finding that IdeSsuisalso cleaves the IgM B cell receptor in vitro, we verified IgM B cell receptor cleavage ex vivo in whole regional lymph nodes and investigated the working hypothesis that this IgM B cell receptor cleavage results in a long-lasting impaired B cell function. The number of IgM-secreting cells was determined via ELISpot analysis after porcine peripheral blood mononuclear cells had initially been treated with different recombinantS. suisproteins and subsequently stimulated with interleukin-2 and the toll-like receptor 7/8 ligand R848. Compared with treatment with medium or recombinant muramidase-released protein, treatment with rIdeSsuisbut also with a cleavage-deficient variant led to a reduction in the number of IgM-secreting cells as well as the level of secreted IgM. Flow cytometry analysis confirmed that the IgM B cell receptor was cleaved only by rIdeSsuis,and the receptor recovered to pretreatment levels on day 2 after treatment. Flow cytometry analysis of B and T cells incubated with fluorescein-labelled recombinant proteins revealed that different rIdeSsuisvariants bind specifically to B cells, most prominently the cleavage-deficient variant. Our results indicate that in vitro interference of rIdeSsuiswith the IgM B cell receptor results in long-lasting impaired IgM secretion by B cells after toll-like receptor activation. Further studies are warranted to prove that the modulation of B cell function by IdeSsuiscould play a role in vivo.
Impact of airway closure and lung collapse on inhaled nitric oxide effect in acute lung injury: an experimental study
Authors: Pellegrini Mariangela , Sousa Mayson L. A. , Dubo Sebastian , Menga Luca S. , Hsing Vanessa , Post Martin , Brochard Laurent J.
Published: September 2024

Background

Efficacy of inhaled therapy such as Nitric Oxide (iNO) during mechanical ventilation may depend on airway patency. We hypothesized that airway closure and lung collapse, countered by positive end-expiratory pressure (PEEP), influence iNO efficacy. This could support the role of an adequate PEEP titration for inhalation therapy. The main aim of this study was to assess the effect of iNO with PEEP set above or below the airway opening pressure (AOP) generated by airway closure, on hemodynamics and gas exchange in swine models of acute respiratory distress syndrome. Fourteen pigs randomly underwent either bilateral or asymmetrical two-hit model of lung injury. Airway closure and lung collapse were measured with electrical impedance tomography as well as ventilation/perfusion ratio (V/Q). After AOP detection, the effect of iNO (10ppm) was studied with PEEP set randomly above or below regional AOP. Respiratory mechanics, hemodynamics, and gas-exchange were recorded.

Results

All pigs presented airway closure (AOP > 0.5cmH2O) after injury. In bilateral injury, iNO was associated with an improved mean pulmonary pressure from 49 ± 8 to 42 ± 7mmHg; (p = 0.003), and ventilation/perfusion matching, caused by a reduction in pixels with low V/Q and shunt from 16%[IQR:13–19] to 9%[IQR:4–12] (p = 0.03) only at PEEP set above AOP. iNO had no effect on hemodynamics or gas exchange for PEEP below AOP (low V/Q 25%[IQR:16–30] to 23%[IQR:14–27]; p = 0.68). In asymmetrical injury, iNO improved pulmonary hemodynamics and ventilation/perfusion matching independently from the PEEP set. iNO was associated with improved oxygenation in all cases.

Conclusions

In an animal model of bilateral lung injury, PEEP level relative to AOP markedly influences iNO efficacy on pulmonary hemodynamics and ventilation/perfusion match, independently of oxygenation.
Exploring innovative strides in radiolabeled nanoparticle progress for multimodality cancer imaging and theranostic applications
Authors: Najdian Atena , Beiki Davood , Abbasi Milad , Gholamrezanezhad Ali , Ahmadzadehfar Hojjat , Amani Ali Mohammad , Ardestani Mehdi Shafiee , Assadi Majid
Published: September 2024

Multimodal imaging unfolds as an innovative approach that synergistically employs a spectrum of imaging techniques either simultaneously or sequentially. The integration of computed tomography (CT), magnetic resonance imaging (MRI), single-photon emission computed tomography (SPECT), positron emission tomography (PET), and optical imaging (OI) results in a comprehensive and complementary understanding of complex biological processes. This innovative approach combines the strengths of each method and overcoming their individual limitations. By harmoniously blending data from these modalities, it significantly improves the accuracy of cancer diagnosis and aids in treatment decision-making processes. Nanoparticles possess a high potential for facile functionalization with radioactive isotopes and a wide array of contrast agents. This strategic modification serves to augment signal amplification, significantly enhance image sensitivity, and elevate contrast indices. Such tailored nanoparticles constructs exhibit a promising avenue for advancing imaging modalities in both preclinical and clinical setting. Furthermore, nanoparticles function as a unified nanoplatform for the co-localization of imaging agents and therapeutic payloads, thereby optimizing the efficiency of cancer management strategies. Consequently, radiolabeled nanoparticles exhibit substantial potential in driving forward the realms of multimodal imaging and theranostic applications. This review discusses the potential applications of molecular imaging in cancer diagnosis, the utilization of nanotechnology-based radiolabeled materials in multimodal imaging and theranostic applications, as well as recent advancements in this field. It also highlights challenges including cytotoxicity and regulatory compliance, essential considerations for effective clinical translation of nanoradiopharmaceuticals in multimodal imaging and theranostic applications.

Graphical Abstract
Do mobile applications foster sustainable mobility? Evidence from a field experiment
Authors: Goetz Alexander , Marinica Ioana , Mayr Harald , Mosetti Luca , Schubert Renate
Published: September 2024

Mobile applications hold promise to foster sustainable mobility behavior, but evaluations of their effectiveness are subject to a number of empirical challenges. We conduct a randomized controlled trial with three distinctive features: unobtrusive tracking of the control group, limited sample attrition, and a representative sample. In our study, 410 participants track their mobility behavior over a 5 week period. After 1 week, the treatment group engages with the user interface of the “Swiss Climate Challenge App”. The user interface combines information on individual $$\hbox {CO}_2$$

CO
2

emissions with gamification features. We find a treatment effect that implies a $$9.8\%$$

9.8
%

reduction in emissions caused by access to the mobile application. While we lack the statistical power to exclude a zero average effect, we find statistically significant emission reductions in the second half of the intervention period, among subjects in medium population density areas, and among men. Our findings suggest that mobile applications could generate considerable net benefits, but larger studies will be needed for validation.
Noise suppression in photon-counting computed tomography using unsupervised Poisson flow generative models
Authors: Hein Dennis , Holmin Staffan , Szczykutowicz Timothy , Maltz Jonathan S. , Danielsson Mats , Wang Ge , Persson Mats
Published: September 2024

Deep learning (DL) has proven to be important for computed tomography (CT) image denoising. However, such models are usually trained under supervision, requiring paired data that may be difficult to obtain in practice. Diffusion models offer unsupervised means of solving a wide range of inverse problems via posterior sampling. In particular, using the estimated unconditional score function of the prior distribution, obtained via unsupervised learning, one can sample from the desired posterior via hijacking and regularization. However, due to the iterative solvers used, the number of function evaluations (NFE) required may be orders of magnitudes larger than for single-step samplers. In this paper, we present a novel image denoising technique for photon-counting CT by extending the unsupervised approach to inverse problem solving to the case of Poisson flow generative models (PFGM)++. By hijacking and regularizing the sampling process we obtain a single-step sampler, that is NFE = 1. Our proposed method incorporates posterior sampling using diffusion models as a special case. We demonstrate that the added robustness afforded by the PFGM++ framework yields significant performance gains. Our results indicate competitive performance compared to popular supervised, including state-of-the-art diffusion-style models with NFE = 1 (consistency models), unsupervised, and non-DL-based image denoising techniques, on clinical low-dose CT data and clinical images from a prototype photon-counting CT system developed by GE HealthCare.
Comparison of different cementing techniques for cement penetration under tibial component in total knee arthroplasty: a retrospective observational study
Authors: Okuno Yu , Nagira Keita , Ishida Koji , Kanaya Haruhisa , Hayashi Ikuta , Enokida Makoto , Nagashima Hideki
Published: September 2024

Purpose

This study aimed to investigate the differences in cement penetration between cementing techniques in total knee arthroplasty (TKA).

Materials and methods

We retrospectively evaluated knee undergone TKA at our hospital for both preoperative and postoperative computed tomographic (CT) evaluations. Cementing was performed with hand mixing and hand packing (HM group) and with vacuum mixing and cement gun use (VM group). We measured the area under the tibial baseplate (sclerotic and nonsclerotic sides) and compared the mean and maximum depths of cement penetration at each area.

Results

Of the 44 knees evaluated, 20 and 24 knees were in the HM and VM groups, respectively. At the center of the sclerotic side, the mean penetration depths (2.0 ± 0.7 and 2.5 ± 0.7 mm, p = 0.02) and the maximum penetration depths (4.0 ± 0.9 and 5.0 ± 1.6 mm, p = 0.02) were significantly deeper in the VM group than in the HM group. The correlation between preoperative Hounsfield unit values and mean penetration were r = –0.617 (p < 0.01) and –0.373 (p = 0.01) in the HM and VM groups, respectively.

Conclusion

The cementing technique of vacuum mixing and using a cement gun allowed for deeper cement penetration compared with the hand mixing and hand packing technique, even in bone sclerotic sites.
The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Authors: Sadek Abdelrahim A. , Aladawy Mohammed A. , Mansour Tarek M. M. , Sayed Khulood M. , Khang Rin , Abdelkreem Elsayed
Published: September 2024

Background

Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that commonly involves skin, nerves, and skeletal system with increased neoplastic predisposition. This disease has been rarely associated with multiple congenital anomalies. Herein, we describe an Egyptian child with NF1 and coexistent bilateral congenital glaucoma, giant congenital melanocytic nevi (GCMN), alopecia, and hypospadias.

Case presentation

A 2.5-year-old boy presented with developmental delay, back swelling, and multiple congenital anomalies. His father and two sisters were known to have NF1. The child was diagnosed with bilateral primary congenital glaucoma at the age of 3.5 months and underwent trabeculectomy with mitomycin C therapy. Examination at the age of 5 months revealed marked hypotonia, multiple GCMN, scanty café-au-lait macules, left upper eyelid plexiform neuroma and trichomegaly, hypertrichosis of left eyebrow, hypertelorism, depressed nasal bridge, left frontal scalp alopecia, and distal penile hypospadias. At the age of 8 months, brain imaging depicted a markedly dilated left lateral ventricle, and he underwent ventriculoperitoneal shunt surgery. The child developed back swelling at the age of 2.5 years, and a spinal magnetic resonance image showed bilateral multiple spinal neurofibromas in the paraspinal region with intraspinal extensions. A whole exome sequencing identified a heterozygous missense variant NM_001042492.3:c.1466A > G (NP_001035957.1:p.Tyr489Cys) in NF1 gene.

Conclusions

The present case report adds to the knowledge of the phenotypic spectrum and variability of NF1 by reporting the association of multiple unusual congenital anomalies. Importantly, such congenital anomalies could be the first presenting features in patients with NF1 since cafe´-au-lait macules and other typical diagnostic criteria may not be apparent in the neonatal period and early infancy. Accordingly, NF1 should be considered in newborns with congenital glaucoma, GCMN, scalp alopecia, and hypospadias.
Thyroid function evaluation in pediatric nephrotic syndrome: a study in a developing country
Authors: Omar Omneya Magdy , Fathi Hanan Mohamed , Merzabani Sara Salah El , Raafat Shaymaa
Published: September 2024

Background

In steroid-resistant nephrotic syndrome (SRNS), protracted proteinuria leads to the loss of thyroxine-binding proteins resulting in low thyroid hormones and in damage renal tubules and exhausts the thyroid reserve. This study aimed to assess thyroid function in those patients with SRNS and steroid-sensitive nephrotic syndrome (SSNS). A comparative cross-sectional study evaluated the thyroid status of 50 children with an equal age- and sex-matched SSNS, and controls were enrolled in this study. Demographic data, clinical examination, renal profile, and thyroid function tests were conducted for them.

Results

Subclinical non-autoimmune hypothyroidism was significantly prevalent in 54% of SRNS patients and 12% of SSNS patients (p < 0.001). No cases of overt hypothyroidism were detected. Albumin and protein/creatinine ratio emerged as significant independent factors influencing subclinical hypothyroidism with odds ratio (OR) 0.624, 95% CI (0.425–0.916), and 1.315 OR (1.315) and 95% CI (1.035–1.672), respectively.

Conclusion

Subclinical non-autoimmune hypothyroidism among patients with SRNS might occur, especially with protracted proteinuria necessitating regular screening of thyroid function in this cohort.
MSCT enterography score for prediction of disease severity in patients with active ulcerative colitis
Authors: Ali Rasha Mostafa Mohamed , Soliman Mirna Sami , Shehab Hany , Hashem Mohamed Bassam , Al-Sharif Aya M. , Safwat Merit , Elnafrawy Marwa Shaker Abd Elfattah
Published: September 2024

Background

Ulcerative colitis (UC) is a chronic non-specific inflammatory bowel disease (IBD). It is characterized by diffuse inflammatory process of the bowel mucosa with a relapsing course. The precise evaluation of UC severity is pivotal in the therapeutic decision-making. Modified Mayo score is consistently used for the evaluation of the disease activity which depends on the patient’s symptoms as well as the colonoscopic findings. The aim of this study is to assess the role of the CT enterography (CTE) scoring system in the evaluation of the disease severity in ulcerative colitis. From October 2022 to July 2023, 66 patients with known ulcerative colitis patients at time of disease activity were referred from the inflammatory bowel disease unit for radiological assessment by CTE. CT images were analyzed to determine the anatomical location of the affected bowel segments, mucosal thickening and hyperenhancement as well as the extra-enteric involvement. Correlation with the modified Mayo score was established.

Results

Our results showed a statistical significant correlation between modified Mayo score and CTE with a P value of 0.000. The correlation coefficient is r = 0.964. The cut-off value of the optimal CTE score to predict mild and moderate UC was 7.5 with 0.996 area under the ROC curve, 92%sensitivity and 100% specificity. The cut-off value of the optimal CTE score to predict moderate and severe UC was 10.5 with 0.983 area under the ROC curve, 90.6% sensitivity and 100% specificity.

Conclusions

CTE is a reliable diagnostic method in the systematic assessment of the disease severity of active ulcerative colitis. CTE score shows a strong proportionate correlation with modified Mayo score. The aggravation of the course of the disease increased the CTE score. CTE scoring system can help plan the therapeutic strategy and predict prognosis.
Ameliorative activity of standardized Coccoloba uvifera leaves extract against streptozotocin-induced diabetic rats via activation of IRS-1/PI3K/AKT/GLUT2 pathway in liver
Authors: Mohamed Fatma Abdelhakim , Sayed Rabab H. , Khalil Mohammed N. A. , Salem Mohamed A. , El Senousy Amira S. , El-Halawany Ali M.
Published: September 2024

Background

Coccoloba uvifera L. (Family: Polygonaceae) known as sea grape is natively distributed in middle and south America. The aqueous leaf extract showed inhibitory activities against α-glucosidase and α-amylase in previous reports. Moreover, the hydroalcoholic leaves extract ameliorated hyperglycemia in the oral glucose tolerance test. Despite these promising results, the extracts used in these studies were not standardized, nor was their mechanism of action elucidated. The current study aims to standardize the ethanolic C. uvifera leaves extract (CU) using markers, and assess its ameliorative activity against diabetes and its hepatoprotective activity against diabetic complications.

Results

Standardized leaves’ ethanolic extract contained 0.09 ± 0.00057 and 0.23 ± 0.0011 mg/g gallic acid and rutin, respectively, as estimated by HPLC. Administration of CU (100, 200 and 400 mg/kg) for 6 weeks ameliorated DM manifestations in STZ-induced diabetic rats in a dose-dependent manner. The ethanolic extract reduced fasting blood glucose, increased serum insulin and reduced elevated liver enzymes. CU counteracted oxidative stress, promoted glucose metabolizing enzymes and reduced gluconeogenesis enzymes. The underlying mechanism involved increased expression of IR, IRS-1, IRS-2 and GLUT2 in liver tissue through activation of PI3K/AKT signaling. The histopathological study demonstrated reduced inflammation and hepatocyte degeneration.

Conclusion

CU could be used as a promising antidiabetic drug with hepatoprotective activity in diabetes hepatic complications. The standardized CU ethanolic extract should be further assessed clinically alone or in combination with other antidiabetic remedies.
Effect of extracorporeal shockwave on gait parameters in patients with plantar fascitis: a randomized controlled trial
Authors: Saleh Amir M. , ELNaggar Elham Mohammed Khairy , El Sayed Amro Saber , Abdallah Sahar Abdallah
Published: September 2024

Background

Plantar fasciitis (PF) is the most common cause of heel pain affecting both young active patients and older sedentary individuals. It most often arises as a result of degenerative changes in the proximal plantar fascia.

Aim

The purpose of this study was to investigate the effect of extracorporeal shockwave on gait parameters in patients with plantar fasciitis.

Design

A randomized controlled clinical trial.

Setting

The outpatient physiotherapy clinic of the teaching hospital Shibin El Kom.

Methods

Participants were randomly divided into two equal groups. Group (A) (study group): received extracorporeal shockwave therapy one session per week and traditional treatment (ultrasound, stretching exercises, and strengthening exercises) three sessions per week for 4 weeks. Group (B)(the control group): received traditional treatment (ultrasound, stretching exercises, and strengthening exercises) 3 sessions per week for 4 weeks. The pre- and post-treatment development of the patients was evaluated by visual analog scale (VAS) to measure pain, foot function index (FFI) to measure foot function, and Kinovea software to analyze gait parameters (stride length, stride time, walking speed, and cadence).

Results

Both groups showed improvement in all study variables, but the study group showed more improvement. There was a statistically significant decrease in VAS (p = 0.001), a significant decrease in FFI (p = 0.001), a significant increase in stride length (p = 0.001), a significant decrease in stride time (p = 0.001), a significant increase in walking speed (p = 0.001), and a significant increase in cadence (p = 0.01) post-treatment compared to group (B).

Conclusion

Extracorporeal shockwave treatment is regarded as a useful treatment for improving gait parameters in patients with plantar fasciitis.

Clinical rehabilitation impact

Extracorporeal shockwave therapy improved gait parameters in patients with plantar fasciitis as it increases stride length, walking speed, cadence, and decreases stride time. So, it is recommended to be included in the rehabilitation program for patients with plantar fasciitis and gait disabilities.
Medical physicians’ awareness about pulmonary hypertension in Egypt
Authors: Elkorashy R. I. M. , Soliman Y. M. A. , Amin Wadgy , Aziz Ahmed Abdel , FathElbab Fatma Muhammad , AbouElghit Alaa Hassan , Nabil Afnan , Magdy Sally
Published: September 2024

Background

The etiological diversity of pulmonary hypertension and its association with other accompanying unrelated symptoms is why this disease may be primarily diagnosed by physicians of different medical specialties.

In this study, we sought to evaluate the awareness of physicians regarding pulmonary hypertension across different regions in Egypt and among different medical specialties this is because we believed that pulmonary hypertension disease awareness differed among different specialties.

Methodology

The survey is conducted from January 2023 to April 2023 targeting certified physicians of different medical specialties in Egypt.

A self-administered questionnaire is designed to evaluate and capture information on the awareness of physicians of different medical specialties regarding the diagnosis and management of disease.

The questionnaire is offered through an online Google form link, that is made available in two languages English and Arabic for dissemination.

Results

A total number of 177 physicians of different medical specialties participated in the questionnaire, 97 (54.8%) participants were males, and 80 (45.2%) participants were females with a mean age of 36.88 ± 7.18.

Among different medical specialties, 89.4% (n = 76) of the pulmonologists and 91.9% (n = 34) of the cardiologists participating in the survey have satisfactory PH disease knowledge above 75% with a statistically high significant difference of 0.000, in addition, 87.1% (n = 74) of the pulmonologists and 94.6% (n = 35) of the cardiologists have satisfactory PH disease management knowledge above 75% with a statistically significant difference of 0.000.

Coincidentally most participants encountering PH patients in their daily clinical practice have satisfactory PH disease knowledge above 75% and satisfactory PH disease management knowledge above 75% with percentages of 84.8% and 82.3% respectively with statistically significant differences of 0.000 and 0.043 respectively.

Conclusions

Our research highlights the importance of appropriate awareness of the healthcare providers of different medical specialties regarding PH disease essential to abide by the current guidelines in management as well as prioritizing the establishment of geographically available designated expert centers enforcing proper clinical practice. Thus, aiming at reducing the prereferral malpractice noted as the prescription of targeted therapy based on the clinical and imaging assessment only without hemodynamic study.
Integrating theory and practice in value engineering within Egypt’s construction industry
Authors: Abdelrahman Sara Atef , Nassar Ayman Hamdy
Published: September 2024

Egypt’s economy is unstable, marked by high unemployment, low incomes, and safety concerns, which impede its rapid development. One crucial sector that faces difficulties is construction, dealing with issues like funding shortages, payment disputes, and ineffective project management. Conventional project success criteria strongly emphasize efficient resource use and waste minimization. These criteria are symbolized by the iron triangle of cost, time, and quality. A key instrument for obtaining value for money in building projects is value engineering (VE). Even though VE is acknowledged in theory, its application is still limited in most developing countries, including the Egyptian construction industry. Therefore, to bridge the gap between theory and practice, this paper attempts to investigate the current state and application of VE in Egypt. The study further outlines strategies for integrating VE into construction practices and identifies obstacles to their implementation. This study employed both qualitative and quantitative research approaches to attain the research aim, beginning with a thorough literature review to assess the application of value engineering (VE) in both local and international construction industries. Then, a web-based survey was conducted to gather diverse perspectives on VE’s role and its current practice in Egyptian construction projects. The gathered data were analyzed mainly using descriptive and thematic analysis approaches. The paper’s findings revealed that there is a large gap between VE in theory and practice in Egypt. Reasons include lack of awareness and understanding, time and financial constraints, and resistance to change. Bridging the gap to enhance VE in Egypt includes a focus on the role of educational institutions and training, public awareness and recognition, and early project lifecycle integration. This research has gained insights about VE environment, process, duration, types of projects applied, and effectiveness, aiming to get a comprehensive overview of VE in Egypt. Furthermore, this research has identified a significant gap between VE theory and practice in Egypt. To bridge this gap and enhance the implementation of VE in Egypt, strategies such as focusing on the role of educational institutions, increasing public awareness and recognition, and integrating VE approach early in the project lifecycle are suggested. These findings will guide construction industry practitioners to deeply understand the current state of VE in Egypt and practically integrate VE in the construction industry to minimize unnecessary costs, enhance functionality requirements, and achieve value for client’s money.
Inequity in cardiometabolic hospital admissions and blood screening in New Zealand Indigenous Māori with psychosis
Authors: Monk Nathan J. , Cunningham Ruth , Stanley James , Fitzjohn Julie , Kerdemelidis Melissa , Lockett Helen , McLachlan Andre D. , Porter Richard J. , Waitoki Waikaremoana , Lacey Cameron
Published: September 2024

Background

People with psychosis experience worse cardiometabolic health than the same-aged general population. In New Zealand, Indigenous Māori experiencing psychosis have greater risk of cardiometabolic and other physical health problems.

Aims

To identify a cohort of adults accessing secondary mental health and addiction services in New Zealand, with a previous psychosis diagnosis as of 1 January 2018, and compare odds of hospital admission outcomes, mortality and receipt of cardiometabolic blood screening between Māori and non-Māori in the following 2 years.

Method

Crude and adjusted logistic regression models compared odds of hospital admission outcomes, mortality and receipt of cardiometabolic blood screening (lipids and haemoglobin A1c) between Māori and non-Māori, occurring between 1 January 2018 and 31 December 2019.

Results

A cohort (N = 21 214) of Māori (n = 7274) and non-Māori (n = 13 940) was identified. Māori had higher adjusted risk of mortality (odds ratio 1.26, 95% CI 1.03–1.54), and hospital admission with diabetes (odds ratio 1.64, 95% CI 1.43–1.87), cardiovascular disease (odds ratio 1.54, 95% CI 1.25–1.88) and any physical health condition (odds ratio 1.07, 95% CI 1.00–1.15) than non-Māori. Around a third of people did not receive recommended cardiometabolic blood screening, with no difference between Māori and non-Māori after covariate adjustment.

Conclusions

Māori experiencing psychosis are more likely to die and be admitted to hospital with cardiovascular disease or diabetes than non-Māori. Because of the higher cardiometabolic risk borne by Māori, it is suggested that cardiometabolic screening shortfalls will lead to worsening physical health inequities for Māori experiencing psychosis.
Porcelain fractures in implant borne fixed dental prostheses and single crowns
Authors: Μικέλη Αικατερίνη
Published: September 2024

Εισαγωγή: Τα κατάγματα πορσελάνης ανήκουν στις πιο συχνές τεχνικές επιπλοκές τωνεμφυτευματικών σταθερών αποκαταστάσεων. Στόχος αυτής της αναδρομικής κλινικής μελέτης ήταν να προσδιοριστεί ο επιπολασμός και την έκταση των καταγμάτων πορσελάνης και ο εντοπισμός πιθανών παραγόντων κινδύνου. Μέθοδοι: Η μελέτη σχεδιάστηκε από το Τμήμα Προσθετικής Οδοντιατρικής της Οδοντιατρικής Σχολής, Πανεπιστημιακό Νοσοκομείο Carl Gustav Carus του Τεχνικού Πανεπιστημίου της Δρέσδης (TUD). Πήραν μέρος μόνο ενήλικες ασθενείς (ηλικίας άνω των 18 ετών) που είχαν προηγουμένως λάβει επιεμφυτευματικές σταθερές αποκαταστάσεις είτε μεταλλοκεραμικες είτε ολοκεραμικές από τον Ιανουάριο του 1995 έως τον Αύγουστο του 2011. Την ημέρα της εξέτασης συλλέχθηκαν συστηματικά δημογραφικές και κλινικές παράμετροι. Οποιοδήποτε παρόν κάταγμα πορσελάνης καταγράφηκε συστηματικά ως προς τη θέση και την έκτασημέσω κλινικής εξέτασης και παρατήρησης σε σχετικά στεγνό πεδίο. Τα κατάγματα ταξινομήθηκαν σετέσσερις κατηγορίες ανάλογα με την έκτασή τους και την αντίστοιχη επισκευασιμότητά τους. Περιγραφική στατιστική ανάλυση διεξήχθη για τον προσδιορισμό του και την συσχέτιση μεταξύ δεικτών πιθανού κινδύνου και καταγμάτων πορσελάνης σε επίπεδο ασθενή, αποκατάστασης και επίπεδο μονάδας. Αποτελέσματα: Συνολικός αριθμός 144 ασθενών (66 άνδρες, 78 γυναίκες) εξετάστηκε και εισήχθηγια την ανάλυση. Αντιπροσώπευαν 507 μονάδες (483 πορσελάνη συντηγμένη σε μέταλλο (PFM), 24 ολοκεραμικά(AC)). Περαιτέρω, αυτές οι μονάδες αντιπροσώπευαν 291 μονές στεφάνες (SC)/ ναρθηκοποιημένες στεφάνες (S SC) (278PFM, 13 AC) και 28 εμφυτευματικές σταθερές οδοντικές προθέσεις (FDP) (28 PFM, 0 AC), 16FDP με εμφυτεύματα με δόντια (14 PFM, 2 AC) και 14 επιεμφυτευματικά πρόβολα FDP (13 PFM,1 AC). Το ποσοστό κατάγματος πορσελάνης σε επίπεδο ασθενούς ήταν 23,6%, ενώ σε επίπεδο PFM FDP αυτότο ποσοστό ήταν 16,4%, σε επίπεδο SC ήταν 12,2% και σε επίπεδο μονάδας 9,5%. Τα αποτελέσματα για ACΟι αποκαταστάσεις ήταν 33,3%, 0,0% και 4,2% αντίστοιχα. Οι παράμετροι βρουξισμός, ηλικία,φύλο, αριθμός φυσικών δοντιών, αριθμός εμφυτευμάτων και συνολικές FDP που υποστηρίζονται από εμφυτεύματα ανάασθενή, παλαιότερη τεχνική επιπλοκή, σύστημα εμφυτεύματος, αντίθετος φραγμός και νάρθηκοποιημένες στεφάνες ή μη δεν είχαν στατιστικά σημαντική συσχέτιση με κατάγματα καλυπτικής πορσελάνης. Συμπέρασμα: Το κάταγμα καλυπτικής πορσελάνης σε επιεμφυτευματικές σταθερές αποκαταστάσεις είναι ένα γεγονός πολλαπλών αιτιών. Σύμφωνα με τους περιορισμούς του σχεδιασμού της αναδρομικής μελέτης, αυτή η μελέτη έδειξε ότι ένας άνδρας ασθενής, βρουξιστής, άνω των 60 ετών, με λιγότερα από 20 υπάρχοντα φυσικά δόντια, μη ναρθηκοποιημένες στεφάνες και παλαιότερες τεχνικές επιπλοκές είναι επιρρεπής σε κάταγμα πορσελάνης. Τα αποτελέσματα ενθαρρύνουν περαιτέρω κλινικές μελέτες.
Case Report: Giant lung hamartoma : An usual cause of lobectomy in a five-year child
Authors: Louhaichi Sabrine , Hamdi Besma , Bouacida Imen , Haddar Yessmine , Trimech Sarra , Ammar Jamel , Ayadi Aida , Hamzaoui Agnès , Baccouche Ines , Marghli Adel
Published: September 2024

Pulmonary hamartomas are the most common benign tumors of the lung in adults. They are usually asymptomatic because of their small size and their slow-growing character. We report the case of a 5-year-old child presenting with a giant lung mass causing recurrent right pneumonia. Surgical resection with middle lobectomy was performed. Final histology revealed pulmonary hamartoma with predominant adenofibromatous and lipomatous differentiation.