bluuebunny/crossref_metadata_2025 huggingface dataset:
The maize PLASTID TERMINAL OXIDASE (PTOX) locus controls the carotenoid content of kernels
Authors: Nie Yongxin , Wang Hui , Zhang Guan , Ding Haiping , Han Beibei , Liu Lei , Shi Jian , Du Jiyuan , Li Xiaohu , Li Xinzheng , Zhao Yajie , Zhang Xiaocong , Liu Changlin , Weng Jianfeng , Li Xinhai , Zhang Xiansheng , Zhao Xiangyu , Pan Guangtang , Jackson David , Li Qin‐Bao , Stinard Philip S. , Arp Jennifer , Sachs Martin M. , Moose Steven , Hunter Charles T. , Wu Qingyu , Zhang Zhiming
Published: January 2024

Carotenoids perform a broad range of important functions in humans; therefore, carotenoid biofortification of maize (Zea mays L.), one of the most highly produced cereal crops worldwide, would have a global impact on human health. PLASTID TERMINAL OXIDASE (PTOX) genes play an important role in carotenoid metabolism; however, the possible function of PTOX in carotenoid biosynthesis in maize has not yet been explored. In this study, we characterized the maize PTOX locus by forward‐ and reverse‐genetic analyses. While most higher plant species possess a single copy of the PTOX gene, maize carries two tandemly duplicated copies. Characterization of mutants revealed that disruption of either copy resulted in a carotenoid‐deficient phenotype. We identified mutations in the PTOX genes as being causal of the classic maize mutant, albescent1. Remarkably, overexpression of ZmPTOX1 significantly improved the content of carotenoids, especially β‐carotene (provitamin A), which was increased by ~threefold, in maize kernels. Overall, our study shows that maize PTOX locus plays an important role in carotenoid biosynthesis in maize kernels and suggests that fine‐tuning the expression of this gene could improve the nutritional value of cereal grains.
In-Situ Measurement of Thermal Barrier Coating Properties Via Induction Phase Radiometry: Methodology Development
Authors: Eitan Shani , Julius Simon , Cukurel Beni
Published: January 2024

This research introduces a new method for accurately measuring the thermal resistance of thermal barrier coatings (TBCs), as typically used in gas turbine engines. The proposed method involves periodic internal heat generation inside the airfoil in the vicinity of the TBC-alloy boundary using low-frequency modulated induction heating through a coil. The phase lag between the radiation flux emitted to the surroundings from the exposed side of the TBC and the recorded voltage input to the modulated induction coil is proportional to the thermal resistance (L2/α) of the thin film. A simplified analytical model is developed to quantify the relationship between the lag as a function of the thermal resistance and induction modulation frequency. Numerical experiments are conducted to solve the full physics. Comparing the output with the simplified model, precision of 0.8% under ideal conditions can be observed. Moreover, the robustness of the methodology to recover properties is characterized by differing levels and types of noise levels, including Gaussian and constant-lag biases. For the relevant application, it is found that the suggested approach maintains a recovery error bound to range of 1–10%, dependent on input noise level.
Three-Dimensional Simulations of Nucleate Boiling With Sharp Interface Volume of Fluid and Localized Adaptive Mesh Refinement in ansys-fluent
Authors: James Winston O. , Perez-Raya I.
Published: January 2024

The present work demonstrates the use of customized ansys-fluent in performing 3D numerical simulations of nucleate boiling with a sharp interface and adaptive mesh refinement. The developed simulation approach is a reliable and effective tool to investigate 3D boiling phenomena by accurately capturing thermal and fluid dynamic interfacial vapor–liquid interaction and reducing computational time. These methods account for 3D sharp interface and thermal conditions of saturation temperature refining the mesh around the bubble edge. User-defined-functions (UDFs) were developed to customize the software ansys-fluent to preserve the interface sharpness, maintain saturation temperature conditions, and perform effective adaptive mesh refinement in a localized region around the interface. Adaptive mesh refinement is accomplished by a UDF that identifies the cells near the contact line and the liquid–vapor interface and applies the adaptive mesh refinement algorithms only at the identified cells. Validating the approach considered spherical bubble growth with an observed acceptable difference between theoretical and simulation bubble growth rates of 10%. Bubble growth simulations with water reveal an influence region of 2.7 times the departure bubble diameter, and average heat transfer coefficient of 15,000 W/m2 K. In addition, the results indicate a reduced computational time of 75 h using adaptive mesh compared to uniform mesh.
Coriolis force compensation and laser beam delivery for 100-m baseline atom interferometry
Authors: Glick Jonah , Chen Zilin , Deshpande Tejas , Wang Yiping , Kovachy Tim
Published: January 2024

The Coriolis force is a significant source of systematic phase errors and dephasing in atom interferometry and is often compensated by counter-rotating the interferometry laser beam against Earth's rotation. We present a novel method for performing Coriolis force compensation for long-baseline atom interferometry, which mitigates atom-beam misalignment due to beam rotation, an effect which is magnified by the long lever arm of the baseline length. The method involves adjustment of the angle of the interferometer beam prior to a magnifying telescope, enabling the beam to pivot around a tunable position along the interferometer baseline. By tuning the initial atom kinematics and adjusting the angle with which the interferometer beam pivots about this point, we can ensure that the atoms align with the center of the beam during the atom optics laser pulses. This approach will be used in the MAGIS-100 atom interferometer and could also be applied to other long-baseline atom interferometers. An additional challenge associated with long baseline interferometry is that since long-baseline atom interferometers are often located outside of typical laboratory environments, facilities constraints may require lasers to be housed in a climate-controlled room a significant distance away from the main experiment. Nonlinear effects in optical fibers restrict the use of fiber-based transport of the high-power interferometry beam from the laser room to the experiment. We present the design of and prototype data from a laser transport system for MAGIS-100 that maintains robustness against alignment drifts despite the absence of a long fiber.
Heating samples to 2000 °C and above for scanning tunneling microscopy studies in ultrahigh vacuum
Authors: Gedara Buddhika S. A. , Trenary Michael
Published: January 2024

A simple device for heating single-crystal samples to temperatures ≥2000 °C in ultrahigh vacuum that is compatible with the standard sample plates used in a common commercial scanning tunneling microscope (STM) is described. Heating high melting point samples to higher temperatures than is possible with many existing STM sample holders is necessary to obtain clean, well-ordered surfaces. Results are demonstrated for the (0001) surface of ZrB2, which has a melting point of 3050 °C.
Clots reveal anomalous elastic behavior of fiber networks
Authors: Zakharov Andrei , Awan Myra , Gopinath Arvind , Lee Sang-Joon John , Ramasubramanian Anand K. , Dasbiswas Kinjal
Published: January 2024

The adaptive mechanical properties of soft and fibrous biological materials are relevant to their functionality. The emergence of the macroscopic response of these materials to external stress and intrinsic cell traction from local deformations of their structural components is not well understood. Here, we investigate the nonlinear elastic behavior of blood clots by combining microscopy, rheology, and an elastic network model that incorporates the stretching, bending, and buckling of constituent fibrin fibers. By inhibiting fibrin cross-linking in blood clots, we observe an anomalous softening regime in the macroscopic shear response as well as a reduction in platelet-induced clot contractility. Our model explains these observations from two independent macroscopic measurements in a unified manner, through a single mechanical parameter, the bending stiffness of individual fibers. Supported by experimental evidence, our mechanics-based model provides a framework for predicting and comprehending the nonlinear elastic behavior of blood clots and other active biopolymer networks in general.
Structural basis for nuclear import of hepatitis B virus (HBV) nucleocapsid core
Authors: Yang Ruoyu , Ko Ying-Hui , Li Fenglin , Lokareddy Ravi K. , Hou Chun-Feng David , Kim Christine , Klein Shelby , Antolínez Santiago , Marín Juan F. , Pérez-Segura Carolina , Jarrold Martin F. , Zlotnick Adam , Hadden-Perilla Jodi A. , Cingolani Gino
Published: January 2024

Nuclear import of the hepatitis B virus (HBV) nucleocapsid is essential for replication that occurs in the nucleus. The ~360-angstrom HBV capsid translocates to the nuclear pore complex (NPC) as an intact particle, hijacking human importins in a reaction stimulated by host kinases. This paper describes the mechanisms of HBV capsid recognition by importins. We found that importin α1 binds a nuclear localization signal (NLS) at the far end of the HBV coat protein Cp183 carboxyl-terminal domain (CTD). This NLS is exposed to the capsid surface through a pore at the icosahedral quasi-sixfold vertex. Phosphorylation at serine-155, serine-162, and serine-170 promotes CTD compaction but does not affect the affinity for importin α1. The binding of 30 importin α1/β1 augments HBV capsid diameter to ~620 angstroms, close to the maximum size trafficable through the NPC. We propose that phosphorylation favors CTD externalization and prompts its compaction at the capsid surface, exposing the NLS to importins.
Molecular profiling of human substantia nigra identifies diverse neuron types associated with vulnerability in Parkinson’s disease
Authors: Wang Qian , Wang Minghui , Choi Insup , Sarrafha Lily , Liang Marianna , Ho Lap , Farrell Kurt , Beaumont Kristin G. , Sebra Robert , De Sanctis Claudia , Crary John F. , Ahfeldt Tim , Blanchard Joel , Neavin Drew , Powell Joseph , Davis David A. , Sun Xiaoyan , Zhang Bin , Yue Zhenyu
Published: January 2024

Parkinson’s disease (PD) is characterized pathologically by the loss of dopaminergic (DA) neurons in the substantia nigra (SN). Whether cell types beyond DA neurons in the SN show vulnerability in PD remains unclear. Through transcriptomic profiling of 315,867 high-quality single nuclei in the SN from individuals with and without PD, we identified cell clusters representing various neuron types, glia, endothelial cells, pericytes, fibroblasts, and T cells and investigated cell type–dependent alterations in gene expression in PD. Notably, a unique neuron cluster marked by the expression of
RIT2
, a PD risk gene, also displayed vulnerability in PD. We validated
RIT2
-enriched neurons in midbrain organoids and the mouse SN. Our results demonstrated distinct transcriptomic signatures of the
RIT2
-enriched neurons in the human SN and implicated reduced RIT2 expression in the pathogenesis of PD. Our study sheds light on the diversity of cell types, including DA neurons, in the SN and the complexity of molecular and cellular changes associated with PD pathogenesis.
A 10-micrometer-thick nanomesh-reinforced gas-permeable hydrogel skin sensor for long-term electrophysiological monitoring
Authors: Zhang Zongman , Yang Jiawei , Wang Haoyang , Wang Chunya , Gu Yuheng , Xu Yumiao , Lee Sunghoon , Yokota Tomoyuki , Haick Hossam , Someya Takao , Wang Yan
Published: January 2024

Hydrogel-enabled skin bioelectronics that can continuously monitor health for extended periods is crucial for early disease detection and treatment. However, it is challenging to engineer ultrathin gas-permeable hydrogel sensors that can self-adhere to the human skin for long-term daily use (>1 week). Here, we present a ~10-micrometer-thick polyurethane nanomesh–reinforced gas-permeable hydrogel sensor that can self-adhere to the human skin for continuous and high-quality electrophysiological monitoring for 8 days under daily life conditions. This research involves two key steps: (i) material design by gelatin-based thermal-dependent phase change hydrogels and (ii) robust thinness geometry achieved through nanomesh reinforcement. The resulting ultrathin hydrogels exhibit a thickness of ~10 micrometers with superior mechanical robustness, high skin adhesion, gas permeability, and anti-drying performance. To highlight the potential applications in early disease detection and treatment that leverage the collective features, we demonstrate the use of ultrathin gas-permeable hydrogels for long-term, continuous high-precision electrophysiological monitoring under daily life conditions up to 8 days.
Silencing dentate newborn neurons alters excitatory/inhibitory balance and impairs behavioral inhibition and flexibility
Authors: Li Haowei , Tamura Risako , Hayashi Daiki , Asai Hirotaka , Koga Junya , Ando Shota , Yokota Sayumi , Kaneko Jun , Sakurai Keisuke , Sumiyoshi Akira , Yamamoto Tadashi , Hikishima Keigo , Tanaka Kazumasa Z. , McHugh Thomas J. , Hisatsune Tatsuhiro
Published: January 2024

Adult neurogenesis confers the hippocampus with unparalleled neural plasticity, essential for intricate cognitive functions. The specific influence of sparse newborn neurons (NBNs) in modulating neural activities and subsequently steering behavior, however, remains obscure. Using an engineered NBN–tetanus toxin mouse model (NBN-TeTX), we noninvasively silenced NBNs, elucidating their crucial role in impulse inhibition and cognitive flexibility as evidenced through Morris water maze reversal learning and Go/Nogo task in operant learning. Task-based functional MRI (tb-fMRI) paired with operant learning revealed dorsal hippocampal hyperactivation during the Nogo task in male NBN-TeTX mice, suggesting that hippocampal hyperexcitability might underlie the observed behavioral deficits. Additionally, resting-state fMRI (rs-fMRI) exhibited enhanced functional connectivity between the dorsal and ventral dentate gyrus following NBN silencing. Further investigations into the activities of PV
+
interneurons and mossy cells highlighted the indispensability of NBNs in maintaining the hippocampal excitation/inhibition balance. Our findings emphasize that the neural plasticity driven by NBNs extensively modulates the hippocampus, sculpting inhibitory control and cognitive flexibility.
Staphylococcus argenteus
bacteremia in the Republic of Korea
Authors: Lee Minkyeong , Choi Yunsang , Choi Seong Jin , Moon Song Mi , Kim Eu Suk , Kim Hong Bin , Ahn Soyeon , Lee Hyunju , Kim Jaeeun , Shin Dong Woo , Yeom Jinki , Park Jeong Su , Song Kyoung-Ho
Published: January 2024

In 2015,
Staphylococcus argenteus
and
Staphylococcus schweitzeri
were proposed as new species, distinct from
Staphylococcus aureus
and collectively referred to as the
S. aureus
complex. However, no clinical reports of these new species exist in Korea. Upon the application of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) for all bloodstream isolates since September 2022,
S. argenteus
was identified in one patient. Therefore, we aimed to search for new species among the archives of the
S. aureus
bacteremia cohort and describe their clinical and microbiological characteristics. Among the 691 archived
S. aureus
isolates between 2012 and 2018, one was identified as
S. argenteus
via MALDI-TOF MS. Both
S. argenteus
isolates (one in 2022) were obtained from patients with extensive pneumonia accompanied by bacteremia and both cases had fatal outcomes. They harbored multiple virulence genes (
clfA, clfB, fnbpA, sdrC, sdrD, sdrE, bbp, cna, see, seg, sei, blaZ, fnbpB,
and
map
) but did not harbor
mecA
and
pvl
. No matched sequence type (ST) was found in either isolate, and both
S. argenteus
isolates were closely related to ST1594, ST1593, ST1793, and ST1303, which belonged to
S. argenteus. S. argenteus
accounted for <1% of the
S. aureus
complex but had clinical characteristics similar to
S. aureus
. Therefore, clinicians should be aware of these factors to avoid misidentifying these strains as coagulase-negative staphylococci, and appropriate reporting is required to minimize confusion.

IMPORTANCE

Staphylococcus argenteus
, a member of
Staphylococcus aureus
complex, has been reported as an important pathogen that causes clinically invasive infections in humans similar to
S. aureus
. Clinical isolates of
S. argenteus
have been reported across the world, showing a large geographical difference in prevalence and genomic profile. However, there have been no clinical reports regarding this new species in Korea. This is the first report to investigate the clinical and genetic characteristics of
S. argenteus
identified in patients with bacteremia, and the proportion of
S. argenteus
bacteremia among
S. aureus
bacteremia cohort in Korea.
A rapid and sensitive CRISPR-Cas12a for the detection of
Fusobacterium nucleatum
Authors: Qu Hai , Zhang Wenjing , Li Jianghao , Fu Qingshan , Li Xiaoxia , Wang Miaomiao , Fu Guangyu , Cui Jing
Published: January 2024

Fusobacterium nucleatum
(Fn), as a conditional pathogen, can cause a range of oral and gastrointestinal diseases. However, existing clinical detection methods require expensive equipment and complex procedures, which are inconvenient for large-scale screening in epidemiological research. The purpose of this study was to establish a reliable, rapid, and inexpensive detection method based on CRISPR/Cas12a technology for the detection of Fn. Specific recombinase polymerase amplification (RPA) primer sequences and crRNA sequences were designed based on the nusG gene of Fn. Subsequently, a fluorescence assay and a lateral flow immunoassay were established using the RPA and CRISPR-Cas12a system (RPA-CRISPR-Cas12a). Sensitivity validation revealed a limit of detection of 5 copies/µL. This method could distinguish Fn from other pathogens with excellent specificity. Furthermore, the RPA-CRISPR-Cas12a assay was highly consistent with the classical quantitative real-time PCR method when testing periodontal pocket samples. This makes it a promising method for the detection of Fn and has the potential to play an increasingly important role in infectious disease testing.

IMPORTANCE

Fusobacterium nucleatum
(Fn) naturally exists in the microbial communities of the oral and gastrointestinal tracts of healthy individuals and can cause inflammatory diseases in the oral and gastrointestinal tracts. Recent studies have shown that Fn is closely associated with the occurrence and development of gastrointestinal cancer. Therefore, the detection of Fn is very important. Unlike the existing clinical detection methods, this study established a fluorescence-based assay and lateral flow immunoassay based on the RPA and CRISPR-Cas12a system (RPA-CRISPR-Cas12a), which is fast, reliable, and inexpensive and can complete the detection within 30–40 minutes. This makes it a promising method for the detection of Fn and has the potential to play an increasingly important role in infectious disease testing.
New Macrocyclic Bis-1,10-phenanthroline-2,9-dicarboxamides. Synthesis and Stereodynamics in Solution
Authors: Ustynyuk Yu. A. , Petrov V. S. , Lemport P. S. , Roznyatovsky V. A. , Nenajdenko V. G.
Published: January 2024

New macrocyclic 1,10-phenanthroline-2,9-dicarboxamide derivatives containing two phenanthroline cores were synthesized, and their structure was confirmed by NMR spectroscopy and other methods. The new macrocyclic phenanthrolines showed a complex stereodynamic behavior in solution, which was studied by 1H NMR spectroscopy at different temperatures.
Theoretical Study of the Electronic Structure and Ionization Spectrum of γ-Pyrone
Authors: Trofimov A. B. , Iakimova E. K. , Gromov E. V. , Skitnevskaya A. D.
Published: January 2024

The electronic structure and ionization spectrum of γ-pyrone (4H-pyran-4-one) were calculated using the third-order algebraic diagrammatic construction method for the single-particle Green function [IP-ADC(3)] and some other high-level quantum chemical methods. The results of calculations were used to interpret its recently recorded photoelectron spectra. New assignments have been proposed for the nature of a series of photoelectron maxima of γ-pyrone located above 12 eV, where, according to calculations, the one-electron ionization pattern is disturbed due to electron correlation effects. The obtained results significantly change the interpretation of the spectrum available in the literature.
Multisystem inflammatory syndrome in children (MIS-C) of a toddler initially presenting with fever and pyuria
Authors: Lo Kinyui Alice , Goh Lee Gan , Ramachandran Rajeev
Published: January 2024

We report a case of multisystem inflammatory syndrome in children (MIS-C) in an East Asian toddler. He presented with a 2-day history of fever and pyuria, 5 weeks before that he had recovered from COVID-19. He was initially treated as urinary tract infection. On day 5 of fever, he was noted to have bilateral non-suppurative limbus-sparing conjunctivitis, red and cracked lips and erythematous extremities. Investigations showed raised inflammatory markers (C-reactive protein and erythrocyte sedimentation rate), thrombocytopenia and a markedly elevated NT-proBNP. He received prompt and appropriate treatment inpatient; however, he still had mild coronary abnormalities at 9 months postdischarge. The aim of this paper is to describe the initial presentation and progress of a case of MIS-C. The unique features of this case are his initial presentation of pyuria and notably, his demography (young age, East Asian) which is more typical of Kawasaki disease than MIS-C.
Colloid nodular goitre associated with hemiagenesis of the thyroid gland
Authors: Sadhasivan Lakshminarayanan , Abhinaya Reddy , Kumbhar Uday Shamrao
Published: January 2024

Hemiagenesis of the thyroid gland is a rare congenital abnormality usually left unnoticed without associated thyroid disorders. The most common congenital anomaly of the thyroid gland is a thyroglossal cyst, followed by ectopic thyroid tissue and thyroid dysgenesis, which may be agenesis or hemiagenesis. Preoperative underevaluation of the thyroid hemiagenesis (THA) associated with other thyroid disorders may cause intraoperative difficulty in identifying the gland and difficulty in preservation or even identification of major neurovascular structures during neck exploration. We report a patient who presented to us with right-sided neck swelling. On further evaluation and neck exploration, the patient was diagnosed with THA of the left lobe with right colloid goitre.
Achromobacter pneumonia in a patient with advanced COPD, a diagnostic challenge
Authors: Batool Aisha , Chaudhry Shahzad , Batool Khadija , Omar Muhammad Ali
Published: January 2024

Bacterial pneumonia causes significant morbidity and mortality especially in elderly and immunocompromised hosts. Achromobacter xylosoxidans denitrificans pneumonia is very rarely reported. However, the reported cases have been in patients who are either immunocompromised or have bronchiectasis. We hereby present a unique case of Achromobacter xylosoxidans denitrificans pneumonia in an immunocompetent patient with advanced chronic obstructive pulmonary disease (COPD). Our patient is a Caucasian male admitted with shortness of breath, fever and cough. Chest X-ray demonstrated right-sided infiltrates and he was treated with intravenous ceftriaxone and azithromycin. He was discharged home on oral amoxicillin-clavulanate 875–125 mg two times per day for a total of 7 days. Patient returned to emergency room after 5 weeks with persistent symptoms and chest X-ray revealed persistent right-sided infiltrate and sputum culture showed Achromobacter xylosoxidans denitrificans. The patient was started on oral levofloxacin 750 mg one time per day for 2 weeks with resolution of symptoms.
Bing-Neel syndrome: a rare neurological complication of Waldenström macroglobulinaemia
Authors: Alzghoul Hamza , Haider Asad , Mukhtar Faisal , Khuddus Nausheen
Published: January 2024

Bing-Neel syndrome (BNS) is a very rare manifestation of Waldenström macroglobulinaemia (WM), in which lymphoplasmacytic cells invade the central nervous system. The clinical presentation includes symptoms of headaches, visual floaters, neuropathy, seizures and gait abnormalities. Here, we describe an elderly woman, who presented with complaints of visual floaters, progressive neuropathy and cognitive changes. Workup including a bone marrow biopsy confirmed the diagnosis of WM. Shortly afterwards, the patient experienced a seizure leading to hospitalisation, which revealed a right frontal lobe lesion on brain MRI. A biopsy of the lesion showed a small B cell lymphoma positive for an MYD88 mutation, confirming BNS. The patient was initially treated with ibrutinib, before transitioning to zanubrutinib. However, she developed disease progression necessitating radiotherapy with lenalidomide and rituximab maintenance therapy, which achieved remission. This case sheds light on the diagnosis and management of a very rare complication of a rare disease.
Recurrent severe hypernatraemia in a young patient: a disconnect between osmoreceptor function and drinking behaviour
Authors: Tudor Roxana Maria , Sherlock Mark , Thompson Chris
Published: January 2024

Chronic hypernatraemia is a rare clinical entity. In the younger population, hypernatraemia is often a consequence of failure to generate thirst in response to osmotic stimuli.

We report the case of a male patient admitted with severe hypernatraemia (plasma sodium 175 mmol/L) on return from holidays. His urine was maximally concentrated at 894 mOsm/kg—suggestive of normal vasopressin reserve. MRI of the brain showed a large extra-axial cyst, with preservation of the posterior pituitary bright spot. Formal osmoregulatory studies demonstrated normal osmoregulated vasopressin secretion and normal thirst, but no appropriate drinking behaviour.

This patient illustrates a unique pathophysiological disconnect between thirst appreciation and the central drive to drink, in the context of normal osmoregulatory function. It is likely that this disconnect is related to the patient’s large intracranial cyst.

The management challenge is to maintain appropriate fluid intake in order to prevent recurrent severe hypernatraemia.
Chronic thrombotic microangiopathy presenting as acute nephrotic syndrome in a patient with renal cancer receiving tyrosine kinase inhibitor therapy
Authors: Ghimire Anukul , Brassington Rebecca , Solez Kim , Bello Aminu
Published: January 2024

Thrombotic microangiopathy (TMA) is a rare but serious side effect of tyrosine kinase inhibitor (TKI) therapy. Previous case reports of renal TMA have usually occurred in the first few months of TKI initiation with only very few cases occurring within 2–3 years. We report a case of a patient who was referred to the Nephrology service for nephrotic syndrome and worsening renal function after 8 years of sunitinib therapy for metastatic clear cell carcinoma of the kidney. Renal biopsy showed chronic TMA without another secondary aetiology identified. With discontinuation of sunitinib and pharmacological optimisation of his hypertension, his renal function and proteinuria both significantly improved. No relapse or recurrence of disease activity was noted after a year of follow-up. This case highlights the importance of remaining vigilant for the development of renal TMA even after an extended duration of TKI therapy.
Perinatal clinical course of Vici syndrome associated with novelEPG5variants: unique cardiac changes and difficulty with foetal diagnosis
Authors: Shima Takashi , Kinjo Tadamune , Park Sungyeon , Sonoda Motoshi
Published: January 2024

Vici syndrome is a genetic disorder involving autophagy dysfunction caused by biallelic pathogenic variants in ectopic P-granules 5 autophagy tethering factor (EPG5). We report the perinatal clinical course of a neonate with Vici syndrome with a unique cardiac presentation. Foetal ultrasonography (US) detected right ventricular hypertrophy, hypoplastic left ventricle and narrowing of the foramen ovale, which were alleviated after birth. Agenesis of the corpus callosum and cerebellar hypoplasia were missed antenatally. After delivery, the patient was clinically diagnosed with Vici syndrome and two novel pathogenic mutations were detected inEPG5. The T-cell receptor repertoire was selectively skewed in the Vβ2 family. Immunological prophylaxis and tube feeding were introduced. Early diagnosis helps parents accept their child’s prognosis and decide on a care plan. However, US has limited potential to detect clinical phenotypes associated with Vici syndrome. Foetal MRI may detect the characteristic abnormalities and contribute to antenatal diagnosis.
Vasoreactive pulmonary artery hypertension in non-fibrotic hypersensitive pneumonitis
Authors: Gupta Sushan , Mohta Avani , Thameem Danish
Published: January 2024

Group III pulmonary hypertension (PH) is common in patients with hypersensitivity pneumonitis (HSP). Group I PH and vasoreactivity in HSP have not been reported. We describe a case of an elderly veterinarian woman who presented with progressive shortness of breath and desaturation on exertion. The patient was diagnosed with non-fibrotic HSP after consistent findings on chest CT, transbronchial biopsy and a positive HSP serological panel. The patient relocated her birds, and prednisone was started. Due to persistent symptoms, she underwent a right heart catheterisation, which showed PH with vasoreactivity; subsequently, nifedipine was started. Over a 9-month follow-up, there was an improvement in symptoms and a complete resolution of PH and CT scan changes. Our case highlights the rare possibility of group I PH in HSP. It illustrates the importance of confirming the aetiology of PH and initiating treatment early to resolve symptoms.
Vertebral Artery Dissection
Authors: Ivanov Ivan , Cataldo Michael , Cocchiara Alyssa , Nguyen Rosalee
Published: January 2024

Vertebral artery dissections are a rare pathology that carries a high risk of stroke in a younger population. They may be caused by minor mechanisms and the index of suspicion should be high. Treatment with anticoagulation or antiplatelets should follow if no surgical management is indicated.

We describe a case of a female in her 30s who fell backward off a swing and rolled over her head and complained of continued posterior neck pain. The patient was found to have a vertebral artery dissection on MRI. The patient was then anticoagulated with high-dose apixaban and low-dose aspirin.

The emergency medicine provider should be aware of possible low-impact mechanisms that can cause vertebral artery dissection and should have a high index of suspicion. If surgical management is not indicated, anticoagulation should be initiated.
Unusual non-infectious cause of meningitis
Authors: Shrestha Pradeep , Paudyal Buddhi , Sharma Lucky , Sigdel Keshav Raj
Published: January 2024

Meningitis, though commonly caused by various infectious agents, may also have non-infectious aetiologies. The clinical presentation, however may be identical to infectious meningitis. We present a case of a female in her 50s who presented with fever, headache, vomiting and neck rigidity. She had features of inflammatory polyarthritis, cold sensitivity, puffy digits, alopecia and easy fatigability. No evidence of infection was found, and serological features consistent with mixed connective tissue disease (MCTD) were revealed, which led to the diagnosis of MCTD-related aseptic meningitis.
Medication-overuse headache overlapping with serotonin syndrome
Authors: Prakash Sanjay , Patel Harsh , Shah Chetsi Sudhir
Published: January 2024

Serotonin syndrome (SS) is an iatrogenic, drug-induced clinical syndrome caused by an increase in the intrasynaptic concentration of serotonin. Serotonin plays a significant role in the pathophysiology of migraines. Upregulation of 5-HT2A receptors is found in medication-overuse headache (MOH). Several migraine medications, both preventative and abortive drugs, act on serotonin receptors. We report two patients with chronic migraine who developed MOH. Besides headache, patients had frequent attacks of dizziness, restlessness, irritability, insomnia, excessive sweating, abdominal discomforts and tremors. These symptoms were suggestive of withdrawal headache. However, on physical examinations, we elicited hyperreflexia, hypertonia, clonus, tachycardia, hypertension, mydriasis and hyperactive bowel sound. Both patients also met the criteria for SS. Cyproheptadine was started. All features, including headaches, got better after cyproheptadine administration within 24 hours. In 7 days, there was practically total improvement. Both patients continued to take cyproheptadine as a preventative medicine, and migraine frequency was under control.
Occult bleeding from a false-in-true non-Meckelian ileal diverticulum
Authors: Vacharathit Voranaddha , Siranart Noppachai , Prueksapanich Piyapan , Manasnayakorn Sopark
Published: January 2024

Ileal diverticula can be congenital or acquired and are rare even among the already rare entity of small bowel diverticula. What has never been reported, as far as we know, is false diverticula arising within the true non-Meckelian diverticulum with mesenteric erosion causing an occult gastrointestinal bleed. We present a patient with occult gastrointestinal bleeding from a false-in-true ileal diverticulum. Multiple investigations were required to localise the bleeding site after which the patient was taken to the operating room for a laparoscopic ileocaecectomy with complete resolution of symptoms. Preoperative localisation of the bleeding site may be difficult but is critically important in occult gastrointestinal bleeding. Procedure choice for a bleeding ileal diverticulum is dictated by the distance from the ileocaecal valve and the etiopathology of the bleed.
Severe osmotic demyelination syndrome with cortical involvement in the context of severe hyponatremia and central diabetes insipidus: an uncommon presentation of an unusual combination
Authors: Giglio Andres , Reccius Andres , Ferre Andres , Dreyse Jorge
Published: January 2024

Background: Osmotic demyelination syndrome (ODS) with cerebral cortical involvement is a rare complication of severe hyponatremia correction. Careful management of hyponatremia is crucial, particularly in patients with risk factors, such as alcohol use disorder and diabetes insipidus.

Case: A patient in his 40s with a history of alcohol use disorder and central diabetes insipidus developed ODS after a 24 mEq/L osmolar increase during the treatment of hyponatremia. The patient’s condition progressed into locked-in syndrome and then improved to spastic tetraparesis after cortical basal ganglia ODS improved.

Discussion: The differential diagnosis of cortical demyelination includes laminar cortical necrosis, being the interpretation of Apparent Diffusion Coefficient (ADC) MRI sequence is a useful tool.

This case underscores the need to investigate and improve diagnosis and treatment strategies in patients with ODS. It also emphasises the significance of careful hyponatremia correction and frequent monitoring, particularly in patients with known risk factors for ODS.
Checkpoint inhibitor myocarditis with preceding immunosuppression and tolerance of sequential anthracycline therapy
Authors: Grewal Nicholas Kiran Singh , Maning Jennifer , Gordon Leo I , Akhter Nausheen
Published: January 2024

A man in his 50s with no known cardiac history and diffuse large B-cell lymphoma on nivolumab presented with acute dyspnoea and swelling. Physical examination revealed volume overload. Work-up noted new elevation of B-type natriuretic peptide and troponin, with new lateral T-wave inversions on ECG. He was admitted to cardiac intensive care for decompensated heart failure. Echocardiography showed ejection fraction 51% with diffuse hypokinesis and reduction of global longitudinal strain. Cardiac MRI demonstrated diffuse myocardial fibrosis with oedema suggesting acute injury. Endomyocardial biopsy revealed lymphocytic and macrophagic infiltrate with cardiomyocyte damage, compatible with immune checkpoint inhibitor (ICI) myocarditis. Immunotherapy was discontinued and he was treated with diuresis, steroids and initiation of goal-directed medical therapy for heart failure. He required additional treatment with anthracyclines. He was monitored with cardio-oncology follow-up after every cycle of anthracycline and tolerated a cumulative 312 mg/m2therapy. The safety of anthracycline administration after ICI-myocarditis has not been described.
Long-term palliation of a malignant colonic anastomotic stricture using a lumen-apposing metal stent (LAMS)
Authors: Xu Alice , Banerjee Debdeep , Barlass Usman , Sánchez-Luna Sergio A
Published: January 2024

Malignant recurrent colonic strictures at the anastomotic site are difficult to treat long term with traditional uncovered metal stents due to the location and risk for tumour ingrowth. We present a case with the use of a lumen-apposing metal stent (LAMS) to successfully palliate a high-grade obstruction at an anastomotic site without recurrence of obstructive symptoms for 14 months.
Gallbladder carcinoma presenting with disseminated bony metastasis
Authors: Upadhyay Amitabh Kumar , Shekhar Shashank , Kumar Abhishek , Chowdhury Somshankar
Published: January 2024

Gallbladder cancer (GBC) is the 23rd most common cancer worldwide and one of the three leading cancers in North and Northeast India. GBC has inferior outcomes due to its advanced presentation and poor response to chemotherapy. The approximate 5-year survival rate for metastatic GBC is less than 5%, with a median survival of around 6 months. Distant metastases from GBC to the bones happen in the later part of the natural history of the disease. Presentation with bony metastasis is infrequent, and less than 25 cases have been reported. Our case was an elderly man in his 70s who presented with back pain and, on workup, was detected to have adenocarcinoma of the gall bladder with disseminated lytic bony metastasis without any visceral metastasis. This case describes the natural history of such cases and discusses the role of bone scan or fluorodeoxyglucose positron emission tomography in the workup for GBC.
Complete atrioventricular block—an uncommon clinical presentation in an adult patient with proven dengue fever
Authors: Tripathi Nilay , Pradhan Akshyaya , Tripathi Mukesh
Published: January 2024

Dengue is a viral disease that clinically presents with fever, thrombocytopenia-related haemorrhagic complications and shock in its severest form. This female patient in her 40s primarily presented to the emergency department of the cardiac centre as syncopal attacks with a complete atrioventricular block. Temporary cardiac pacing as an emergency procedure helped to maintain cardiac rhythm and haemodynamics. A history of recent onset fever helped us to suspect and confirmed by serology for dengue pathology. Normal sinus rhythm was restored after 2 days, and we removed the temporary pacing. Cardiac arrhythmia did not recur in 6 months of follow-up. The aetiology for dengue-related cardiac arrhythmia is still not established. In the recovery phase from fever, complete heart block may show up as a primary presentation in the emergency. Its timely diagnosis and temporary pacing may allow spontaneous recovery. The inclusion of electrocardiography in dengue patient guidelines should help clinicians to dictate its treatment.
Surgical approach for management of complete anterior capsular contraction syndrome
Authors: Guedes-Mota Catarina , Dutra-Medeiros Marco , Tavares Ferreira Joana , Dias-Santos Arnaldo
Published: January 2024

Anterior capsular contraction syndrome is an uncommon but well-known complication associated with continuous curvilinear capsulorhexis performed during cataract surgery. It remains asymptomatic unless the constriction progresses to involve the visual axis or causes late intraocular lens-related complications. A male patient in his 50s presented with severely decreased vision in his right eye 2 years after uneventful cataract surgery. Slit-lamp biomicroscopy revealed capsular phimosis and a dense, central, fibrous plaque with total occlusion of the anterior capsulorhexis opening. Neodymium-doped yttrium aluminium garnet laser anterior capsulotomy and vitrectorhexis were attempted, but proved ineffective. Surgical excision with manual cutting of the fibrotic membrane was performed, successfully clearing the visual axis and restoring vision.
Disseminated nocardiosis with persistent neurological disease
Authors: Stellern Jordan J , Plaisted Jacob , Welles Christine
Published: January 2024

A man in his 80s with a history of sarcoidosis on chronic prednisone presented to the emergency department with several days of dyspnoea. A chest X-ray showed signs of pneumonia, and the patient was admitted. Blood and pleural fluid cultures grewNocardia farcinica; therefore, the patient was started on treatment with trimethoprim-sulbactam and imipenem. Brain imaging showed evidence of dissemination of the infection to the central nervous system (CNS). The patient’s admission was complicated by pleural effusions, acute kidney injury and pancytopenia, and therefore, his antibiotic regimen was ultimately transitioned from trimethoprim-sulfamethoxazole (TMP-SMX), meropenem and linezolid to imipenem and tedizolid. The patient received imipenem and tedizolid for the remainder of the admission. A repeat MRI of the brain was performed after 6 weeks of this dual antibiotic therapy, which unfortunately revealed persistent CNS disease. His regimen was then broadened to TMP-SMX, linezolid and imipenem. Despite these measures, however, the patient ultimately passed away from the infection.
The elusive extremities: a case of extramammary Paget disease
Authors: Radhakrishnan Shalini , Sreeram Saraswathy , Nayak Kashinath , Reddy Sai Goutham
Published: January 2024

Extramammary Paget disease is a rare dermatological condition resembling Paget disease that occurs most commonly in the anogenital area and axilla. We present the case of an elderly male who had come with complaints of an itchy, erythematous and raised lesion in the perianal region for 3 months that did not respond to antifungals. A biopsy was taken from the lesion site and the diagnosis was confirmed by histopathological examination. It is important to be aware of conditions like extramammary Paget disease when an elderly individual presents with a non-specific pruritic lesion in the perianal area that is non-responsive to treatment; the diagnosis of which can be made only by doing a biopsy from the concerned site. This highlights the importance of histopathological examination in such ambiguous cases.
Spontaneous tumour lysis secondary to gastric adenocarcinoma
Authors: Prasad Apurwa , Verghese Dhiran , Vijaya Rangan Sumathi , Sunadarajan Nivedita
Published: January 2024

We present a case of a man in his 70s who presented with worsening rectal and back pain associated with weight loss, dyspnoea and brownish discolouration of urine. Physical examination noted abdominal distention and epigastric tenderness. Laboratory investigations revealed acute kidney injury, hyperkalaemia, hyperphosphataemia and hyperuricaemia. Contrast CT of the abdomen/pelvis showed multiple, low-density masses throughout the liver, suspicious for metastatic disease. Oesophagogastroduodenoscopy demonstrated a large, fungating, infiltrative and ulcerated mass in the gastric body and lesser curvature of the stomach. Surgical pathology confirmed invasive moderately differentiated gastric adenocarcinoma. He met both the laboratory and clinical criteria for spontaneous tumour lysis syndrome (STLS) as per the Cairo-Bishop criteria. He was managed with aggressive fluid hydration, rasburicase and allopurinol, resulting in improvement in his renal function and laboratory findings. STLS of solid organ tumours, especially gastric adenocarcinoma, is rare and requires early detection with timely management to ensure favourable outcomes.
Ileal conduit obstruction secondary to tethering of the small bowel anastomosis to the pubic bone
Authors: Wombwell Amy , Lobo Niyati , Khan Muhammad Shamim , Thurairaja Ramesh
Published: January 2024

We present the case of a late 60s male who presented to hospital 3 years postradical cystectomy and ileal conduit diversion with polyuria and acute kidney injury. CT of the kidneys, ureters and bladder (KUB) revealed mild hydronephrosis of a solitary left kidney and a 3-cm calculus in the ileal conduit. The patient subsequently underwent a laparotomy which revealed the cause of obstruction to be tethering of the small bowel anastomosis to the pubic bone. The conduit was excised with the calculus in situ and a new conduit was fashioned. The patient recovered from surgery without complication, and his kidney function improved.
Open lateral condyle Hoffa’s fracture with intra-articular patella dislocation, quadriceps tendon rupture and PCL avulsion
Authors: Bandebuche Ajinkya , Munde Kishor , Sharan Sudhir
Published: January 2024

We present a rare case of open lateral condyle Hoffa’s fracture with concurrent patellar intra-articular dislocation, quadriceps rupture and posterior cruciate ligament (PCL) avulsion. The early adolescent male sustained these injuries in a road traffic accident. Diagnostic evaluation and a multidisciplinary approach guided treatment decisions. The patient underwent single-stage open reduction and internal fixation for the lateral condyle Hoffa’s fracture and quadriceps tendon repair, while conservative management was chosen for the PCL avulsion. At the 1-year follow-up, the patient exhibited improved knee function.

This case underscores the management of complex knee injuries and contributes to understanding unique injury patterns, enhancing patient care.
Mpox gastrointestinal manifestations: a systematic review
Authors: Ramakrishnan Rahul , Shenoy Atira , Madhavan Ranganathan , Meyer Damon
Published: January 2024

Introduction

Mpox is a viral infection caused by the monkeypox virus, a member of the Poxviridae family and Orthopoxvirus genus. Other well-known viruses of the Orthopoxvirus genus include the variola virus (smallpox), cowpox virus and vaccinia virus. Although there is a plethora of research regarding the dermatological and influenza-like symptoms of mpox, particularly following the 2022 mpox outbreak, more research is needed on the gastrointestinal (GI) effects.

Objectives

This systematic review is to outline the GI manifestations of the monkeypox virus.

Methods

The authors conducted this systematic review using guidelines outlined in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. A search was conducted through the PubMed, EMBASE and MEDLINE databases from January 1958 to June 2023. The authors selected English language papers that discussed the GI symptoms in mpox patients. A manual search was also conducted in the reference sections of these publications for other relevant papers.

Results

33 papers involving 830 patients were selected for this review. The GI manifestations in mpox patients are proctitis, vomiting, diarrhoea, rectal pain, nausea, tenesmus, rectal bleeding and abdominal pain. Although various papers explored transmission routes, one paper established a direct connection between anal-receptive sex transmission route and the development of a GI complication (proctitis). Another study reported that the mode of transmission could potentially impact the occurrence of GI symptoms and severity of the disease. The reviewed papers did not discover a relation between the severity of dermatological and influenza-like symptoms and the GI manifestations mentioned.

Conclusion

This systematic review confirms that GI manifestations are observed in mpox patients. GI symptoms of mpox are crucial for gastroenterologists and other healthcare professionals to recognise in order to address patient discomfort and further understand the pathophysiology of the virus.