bluuebunny/crossref_metadata_2025 huggingface dataset:
Intragenic heterochromatin‐mediated alternative polyadenylation modulates miRNA and pollen development in rice
Authors: You Li‐Yuan , Lin Juncheng , Xu Hua‐Wei , Chen Chun‐Xiang , Chen Jun‐Yu , Zhang Jinshan , Zhang Jian , Li Ying‐Xin , Ye Congting , Zhang Hui , Jiang Jing , Zhu Jian‐Kang , Li Qingshun Q. , Duan Cheng‐Guo
Published: July 2021

Despite a much higher proportion of intragenic heterochromatin‐containing genes in crop genomes, the importance of intragenic heterochromatin in crop development remains unclear. Intragenic heterochromatin can be recognised by a protein complex, ASI1–AIPP1–EDM2 (AAE) complex, to regulate alternative polyadenylation.

Here, we investigated the impact of rice ASI1 on global poly(A) site usage through poly(A) sequencing and ASI1‐dependent regulation on rice development.

We found that OsASI1 is essential for rice pollen development and flowering. OsASI1 dysfunction has an important impact on global poly(A) site usage, which is closely related to heterochromatin marks. Intriguingly, OsASI1 interacts with the intronic heterochromatin of OsXRNL, a nuclear XRN family exonuclease gene involved in the processing of an miRNA precursor, to promote the processing of full‐length OsXRNL and regulate miRNA abundance. We found that OsASI1‐mediated regulation of pollen development partially depends on OsXRNL. Finally, we characterised the rice AAE complex and its involvement in alternative polyadenylation and pollen development.

Our findings help to elucidate an epigenetic mechanism governing miRNA abundance and rice development, and provide a valuable resource for studying the epigenetic mechanisms of many important processes in crops.
Quantifying and simulating carbon and nitrogen mineralization from diverse exogenous organic matters
Authors: Levavasseur Florent , Lashermes Gwenaelle , Mary Bruno , Morvan Thierry , Nicolardot Bernard , Parnaudeau Virginie , Thuriès Laurent , Houot Sabine
Published: July 2021

The potential contributions of exogenous organic matters (EOMs) to soil organic C and mineral N supply depend on their C and N mineralization, which can be assessed in laboratory incubations. Such incubations are essential to calibrate decomposition models, because not all EOMs can be tested in the field. However, EOM incubations are resource‐intensive. Therefore, easily measurable EOM characteristics that can be useful to predict EOM behaviour are needed. We quantified C and N mineralization during the incubation of 663 EOMs from five groups (animal manures, composts, sewage sludges, digestates and others). This represents one of the largest and diversified set of EOM incubations. The C and N mineralization varied widely between and within EOM subgroups. We simulated C and N mineralization with a simple generic decomposition model. Three calibration methods were compared. Individual EOM calibration of the model yielded good model performances, while the use of a unique parameter set per EOM subgroup decreased the model performance, and the use of two EOM characteristics to estimate model parameters gave an intermediate model performance (average RMSE‐C values of 32, 99 and 65 mg C g−1 added C and average RMSE‐N values of 50, 126 and 110 mg N g−1 added N, respectively). Because of the EOM variability, individual EOM calibration based on incubation remains the recommended method for predicting most accurately the C and N mineralization of EOMs. However, the two alternative calibration methods are sufficient for the simulation of EOMs without incubation data to obtain reasonable model performances.
A Vibratory, Subresonant Diagnostic Device to Measure Dental Implant Stability Via Angular Stiffness
Authors: Xu Weiwei , Wood Darwin S. , Liu Yifeng , Shen I. Y.
Published: July 2021

Stability of a dental implant reflects quality of osseointegration between the implant and its surrounding bone. While many methods have been proposed to characterize implant stability, angular stiffness at the neck of the implant has been proven to be a rigorous and accurate measure. Nevertheless, fast and reliable measurements of the angular stiffness in a clinical environment are not yet available. This article is to demonstrate a novel stability diagnostic device that can measure the angular stiffness accurately in clinical environments. The device consists of a sensing unit, a controller unit, and a mobile app. In the sensing unit, a coupler attaches a buzzer motor and a tiny accelerometer to an abutment of an implant, whose angular stiffness is to be measured. The buzzer vibrates at a frequency below the resonance frequency of the implant–bone–abutment system. Meanwhile, the accelerometer measures the abutment's vibration. The controller unit powers the buzzer, reads the accelerometer data, and transmits the data to the mobile app. The mobile app postprocesses the data and extracts the angular stiffness through use of a finite element model and a nonlinear regression algorithm. The extracted angular stiffness is compared with a calibrated angular stiffness, which is obtained independently via a force hammer and a laser Doppler vibrometer. The comparison shows reasonable agreement, with the difference being in the range of 4–20%.
Apparatus for In Vivo Knee Laxity Assessment Using High-Speed Stereo Radiography
Authors: Andreassen Thor E. , Hamilton Landon D. , Hume Donald , Higinbotham Sean E. , Behnam Yashar , Clary Chadd , Shelburne Kevin B.
Published: July 2021

Computational modeling is of growing importance in orthopedics and biomechanics as a tool to understand differences in pathology and predict outcomes from surgical interventions. However, the computational models of the knee have historically relied on in vitro data to create and calibrate model material properties due to the unavailability of accurate in vivo data. This work demonstrates the design and use of a custom device to quantify anterior-posterior (AP) and internal-external (IE) in vivo knee laxity, with an accuracy similar to existing in vitro methods. The device uses high-speed stereo radiography (HSSR) tracking techniques to accurately measure the resulting displacements of the femur, tibia, and patella bones during knee laxity assessment at multiple loads and knee flexion angles. The accuracy of the knee laxity apparatus was determined by comparing laxity data from two cadaveric specimens between the knee laxity apparatus and an existing in vitro robotic knee joint simulator. The accuracy of the knee laxity apparatus was within 1 mm (0.04 in.) for AP and 2.5 deg for IE. Additionally, two living subjects completed knee laxity testing to confirm the laboratory use of the novel apparatus. This work demonstrates the ability to use custom devices in HSSR to collect accurate data, in vivo, for calibration of computational models.
Multiplanar Stiffness of Commercial Carbon Composite Ankle-Foot Orthoses
Authors: Shuman Benjamin R. , Russell Esposito Elizabeth
Published: July 2021

The mechanical properties of an ankle-foot orthosis (AFO) can impact how a user's movement is either restricted or augmented by the device. However, standardized methods for assessing stiffness properties of AFOs are lacking, posing a challenge for comparing between devices and across vendors. Therefore, the purpose of this study was to quantify the rotational stiffness of thirteen commercial, nonarticulated, carbon composite ankle-foot orthoses. A custom, instrumented test fixture, for evaluating mechanical properties in rotating exoskeletons (EMPIRE), deflected an AFO through 20 deg of plantar/dorsiflexion motion about a specified, but adjustable, ankle axis. Sagittal, frontal, and transverse plane rotational stiffness were calculated, and reliability was assessed between cycles, sessions, and testers. The EMPIRE demonstrated good-to-excellent reliability between testers, sessions, and cycles (intraclass correlation coefficients all ≥0.95 for sagittal plane stiffness measures). Sagittal plane AFO stiffness ranged from 0.58 N·m/deg to 3.66 N·m/deg. AFOs with a lateral strut demonstrated frontal plane stiffnesses up to 0.71 N·m/deg of eversion while those with a medial strut demonstrated frontal plane stiffnesses up to 0.53 N·m/deg of inversion. Transverse plane stiffnesses were less than 0.30 N·m/deg of internal or external rotation. These results directly compare AFOs of different models and from different manufacturers using consistent methodology and are intended as a resource for clinicians in identifying a device with stiffness properties for individual patients.
Adult perception of stop consonant voicing in American-English-learning toddlers: Voice onset time and secondary cues
Authors: Hitchcock Elaine R. , Koenig Laura L.
Published: July 2021

Most studies of speech perception employ highly controlled stimuli. It is not always clear how such results extend to the processing of natural speech. In a series of experiments, we progressively explored the role of voice onset time (VOT) and potential secondary cues in adult labeling of stressed syllable-initial /b d p t/ produced by typically developing two-year-old learners of American English. Taken together, the results show the following: (a) Adult listeners show phoneme boundaries in labeling functions comparable to what have been established for adult speech. (b) Adult listeners can be sensitive to distributional properties of the stimulus set, even in a study that employs highly varied naturalistic productions from multiple speakers. (c) Secondary cues are available in the speech of two-year-olds, and these may influence listener judgments. Cues may differ across places of articulation and the VOT continuum. These results can lend insight into how clinicians judge child speech during assessment and also have implications for our understanding of the role of primary and secondary acoustic cues in adult perception of child speech.
Analysis of supersonic jet turbulence, fine-scale noise, and shock-associated noise from characteristic, bi-conic, faceted, and fluidic injection nozzles
Authors: Patel Trushant K. , Miller Steven A. E.
Published: July 2021

Fine-scale mixing noise (FSMN) and broadband shock-associated noise (BBSAN) are the dominant components of supersonic jet noise in the sideline and upstream directions. We use the previously developed statistical FSMN and BBSAN models to compare the noise radiated from three different nozzles, i.e., a method of characteristics nozzle, a bi-conic nozzle, and a faceted nozzle at different operating conditions. A numerical sensitivity analysis is performed using the models by perturbing various model parameters and conditions such as nozzle pressure ratio (NPR), total temperature ratio, area ratio, and boundary layer thickness. We observed that FSMN is most sensitive to NPR and BBSAN is most sensitive to area ratio. We also examine the changes in source statistics and corresponding correlations of the radiated noise using the fluidic injection noise reduction technique. Noise reduction predictions relative to the baseline cases are compared at different operating conditions and similar reduction as the experimental measurements were obtained at over-expanded conditions. Finally, we analyze the noise source locations for both components of jet noise in the sideline direction. The trends predicted in this study increase understanding of the changes in source statistics and radiated noise for different nozzles over a range of operating conditions.
Further simulations of the effect of cochlear-implant pre-processing and head movement on interaural level differences
Authors: Archer-Boyd Alan W. , Carlyon Robert P.
Published: July 2021

We simulated the effect of several automatic gain control (AGC) and AGC-like systems and head movement on the output levels, and resulting interaural level differences (ILDs) produced by bilateral cochlear-implant (CI) processors. The simulated AGC systems included unlinked AGCs with a range of parameter settings, linked AGCs, and two proprietary multi-channel systems used in contemporary CIs. The results show that over the range of values used clinically, the parameters that most strongly affect dynamic ILDs are the release time and compression ratio. Linking AGCs preserves ILDs at the expense of monaural level changes and, possibly, comfortable listening level. Multichannel AGCs can whiten output spectra, and/or distort the dynamic changes in ILD that occur during and after head movement. We propose that an unlinked compressor with a ratio of approximately 3:1 and a release time of 300–500 ms can preserve the shape of dynamic ILDs, without causing large spectral distortions or sacrificing listening comfort.
Human tumor microenvironment chip evaluates the consequences of platelet extravasation and combinatorial antitumor-antiplatelet therapy in ovarian cancer
Authors: Saha Biswajit , Mathur Tanmay , Tronolone James J. , Chokshi Mithil , Lokhande Giriraj K. , Selahi Amirali , Gaharwar Akhilesh K. , Afshar-Kharghan Vahid , Sood Anil K. , Bao Gang , Jain Abhishek
Published: July 2021

A tumor microenvironment chip reveals how platelets may fuel cancer metastasis and chemoresistance and unravels a new treatment.
Disorganization and degeneration of liver sympathetic innervations in nonalcoholic fatty liver disease revealed by 3D imaging
Authors: Adori Csaba , Daraio Teresa , Kuiper Raoul , Barde Swapnali , Horvathova Lubica , Yoshitake Takashi , Ihnatko Robert , Valladolid-Acebes Ismael , Vercruysse Pauline , Wellendorf Ashley M. , Gramignoli Roberto , Bozoky Bela , Kehr Jan , Theodorsson Elvar , Cancelas Jose A. , Mravec Boris , Jorns Carl , Ellis Ewa , Mulder Jan , Uhlén Mathias , Bark Christina , Hökfelt Tomas
Published: July 2021

3D imaging reveals gradual degeneration of liver sympathetic nerves in human and experimental nonalcoholic fatty liver disease.
A resident stromal cell population actively restrains innate immune response in the propagation phase of colitis pathogenesis in mice
Authors: Gao Liang , Yu Qian , Zhang Huasheng , Wang Zhengting , Zhang Tianyu , Xiang Jinnan , Yu Shuxiang , Zhang Shaoyang , Wu Hongguang , Xu Yizhou , Wang Zhuo , Shen Lu , Shu Gang , Chen Ye-Guang , Liu Huijuan , Shen Lei , Li Baojie
Published: July 2021

Resident stromal cells suppress IBD pathogenesis in mice.
Orf Virus ORF120 Protein Positively Regulates the NF-κB Pathway by Interacting with G3BP1
Authors: Zhou Yanlong , Guan Jiyu , Gao Feng , Li Zi , Lan Yungang , Lu Huijun , Song Deguang , Lv Lijun , Lv Pin , Xu Mengshi , Wang Zhenzhen , He Hongbin , Zhao Kui , He Wenqi
Published: July 2021

As part of the host innate response, the nuclear factor-κB (NF-κB) pathway plays a partial antiviral role in nature by regulating the innate immune response. Thus, the NF-κB pathway is probably the most frequently targeted intracellular pathway for subversion by anti-immune modulators that are carried by a wide range of pathogens.
Amplicon Sequence Variants Artificially Split Bacterial Genomes into Separate Clusters
Authors: Schloss Patrick D.
Published: July 2021

16S rRNA gene sequencing has engendered significant interest in studying microbial communities. There has been tension between trying to classify 16S rRNA gene sequences to increasingly lower taxonomic levels and the reality that those levels were defined using more sequence and physiological information than is available from a fragment of the 16S rRNA gene.
A Comprehensive Map of Mycobacterium tuberculosis Complex Regions of Difference
Authors: Bespiatykh D. , Bespyatykh J. , Mokrousov I. , Shitikov E.
Published: July 2021

Reductive genome evolution is one of the most important and intriguing adaptation strategies of different living organisms to their environment.
Mycobacterium
offers several notorious examples of either naturally reduced (
Mycobacterium leprae
) or laboratory-reduced (
Mycobacterium bovis
BCG) genomes.
Mycobacterium tuberculosis
complex has its phylogeny unambiguously framed by large sequence polymorphisms that present unidirectional unique event changes. In the present study, we curated all known regions of difference and analyzed both
Mycobacterium tuberculosis
and animal-adapted MTBC species.
Host-Like Conditions Are Required for T6SS-Mediated Competition among Vibrio fischeri Light Organ Symbionts
Authors: Speare Lauren , Woo Madison , Bultman Katherine M. , Mandel Mark J. , Wollenberg Michael S. , Septer Alecia N.
Published: July 2021

Bacteria have evolved diverse strategies to compete for limited space and resources. Because these mechanisms can be costly to use, their expression and function are often restricted to specific environments where the benefits outweigh the costs.
Investigating the Roles of Listeria monocytogenes Peroxidases in Growth and Virulence
Authors: Cesinger Monica R. , Schwardt Nicole H. , Halsey Cortney R. , Thomason Maureen K. , Reniere Michelle L.
Published: July 2021

Listeria monocytogenesis a facultative intracellular pathogen and the causative agent of the foodborne illness listeriosis.L. monocytogenesmust contend with reactive oxygen species generated extracellularly during aerobic growth and intracellularly by the host immune system. However, the mechanisms by whichL. monocytogenesdefends against peroxide toxicity have not yet been defined.
Supplemental Material: Postglacial slip distribution along the Teton normal fault (Wyoming, USA), derived from tectonically offset geomorphological features
Authors: Hampel A. , al. et
Published: July 2021

Figure 5 is interactive. Place the mouse cursor over the names or color-filled circles of the scarp profiles in A to view the related scarp profiles and detailed location maps in B.

Figure 7B is interactive. Use the radio buttons in the legend to view the Sz values from all profiles (gray curve through data points with highest vertical slip) or separately from the different groups (blue, yellow, and red curves, respectively).
Postglacial slip distribution along the Teton normal fault (Wyoming, USA), derived from tectonically offset geomorphological features
Authors: Hampel Andrea , Hetzel Ralf , Erdmann Maria-Sophie
Published: July 2021

Along the eastern front of the Teton Range, northeastern Basin and Range province (Wyoming, USA), well-preserved fault scarps that formed across moraines, river terraces, and other geomorphological features indicate that multiple earthquakes ruptured the range-bounding Teton normal fault after the Last Glacial Maximum (LGM). Here we use high-resolution digital eleva­tion models derived from lidar data to determine the vertical slip distribution along strike of the Teton fault from 54 topographic profiles across tectonically offset geomorphological features along the entire Teton Range front. We find that offset LGM moraines and glacially striated surfaces show higher vertical displacements than younger fluvial terraces, which formed at valley exits upstream of LGM terminal moraines. Our results reveal that the tectonic off­sets preserved in the fault scarps are post-LGM in age and that the postglacial slip distribution along strike of the Teton fault is asymmetric with respect to the Teton Range center, with the maximum vertical displacements (27–23 m) being located north of Jenny Lake and along the southwestern shore of Jack­son Lake. As indicated by earlier three-dimensional numerical models, this asymmetric slip distribution results from postglacial unloading of the Teton fault, which experienced loading by the Yellowstone ice cap and valley glaciers in the Teton Range during the last glaciation.
Cystic hypersecretory ductal carcinoma (CHDC): a rare distinctive variant of ductal carcinoma
Authors: DiPasquale Ashley , Peiris Lashan , Silverman Svetlana
Published: July 2021

Cystic hypersecretory ductal carcinoma (CHDC) is a rare distinctive variant of ductal carcinoma that behaves in a low-grade fashion. This rare form of breast malignancy has only been reported a handful of times in the surgical literature. This article outlines the clinical presentation, workup and management of a 43-year-old woman who presented with a bilobed cystic mass of the right breast diagnosed as CHDC.
Diagnostic challenge in silent metastatic invasive breast carcinoma: dysphagia as the only symptom
Authors: Alfian Sulai Dalilah Diyana , Krishnasamy Theevashini , Nik Mahmood Nik Ritza Kosai
Published: July 2021

Metastatic cancer to the oesophagus is rare. Most cases are diagnosed at autopsy or surgery. The breast is the most common organ bearing a primary tumour. Metastatic oesophageal tumours are nearly always located in the submucosal layer with normal benign-looking mucosa, rendering tissue diagnosis difficult. In the absence of breast-related symptoms, the diagnosis of oesophageal metastasis from breast primary would be very challenging. We report a case of a 50 year-old woman, who was referred to our centre for a second opinion after she was offered an esophagectomy for a suspected oesophageal carcinoma. She presented solely with dysphagia and weight loss. Multiple investigations were performed to investigate her dysphagia which eventually led to the diagnosis of metastatic breast cancer with oesophageal involvement. She underwent excision of right breast invasive lobular carcinoma with axillary dissection. She completed her adjuvant chemoradiotherapy and currently on daily dose of tamoxifen, whereby her dysphagia has dramatically improved.
Effects of inspiratory muscle training after lung transplantation in children
Authors: Yamaga Takayoshi , Yamamoto Shuhei , Sakai Yasunari , Ichiyama Takashi
Published: July 2021

Pulmonary rehabilitation is a cornerstone of management for patients after lung transplantation (LT), but the benefits of inspiratory muscle training (IMT) after LT in children are unclear. Therefore, we examined whether IMT can improve respiratory function and dyspnoea in a paediatric patient after LT.

The patient was a 13-year-old boy who underwent double LT. However, mild physical activity such as walking triggered dyspnoea for the patient. The patient underwent IMT with the intensity of approximately 30% of his maximal inspiratory pressure (MIP) for 2 months.

The patient’s MIP was increased by approximately 60% after 2 months, and his forced vital capacity as a percent of the predicted normal value increased from 74.6% to 83.4%, with improvement of dyspnoea.

IMT may help improve dyspnoea after LT in children with respiratory muscle weakness and a decline in respiratory function.
Spontaneous intracranial hypotension presenting with progressive cognitive decline
Authors: Gharehbagh Sanaz Shoja , Rasmussen Birthe Krogh , Smilkov Emil , Jensen Rigmor Højland
Published: July 2021

A 63-year-old woman presented with headache, progressive somnolence, neurocognitive decline and urinary incontinence through a year. Medical history was unremarkable except for hypertension and hypercholesterolaemia. Neurological examination was normal. Brain MRI showed findings typical for spontaneous intracranial hypotension (subdural fluid collection, pachymeningeal enhancement, brain sagging) and pituitary tumour. The patient’s complaints improved dramatically but temporarily after treatment with each of repeated targeted as well as non-targeted blood patches and a trial with continuous intrathecal saline infusion. Extensive work up including repeated MRI-scans, radioisotope cisternographies, CT and T2-weighted MR myelography could not localise the leakage, but showed minor root-cysts at three levels. Finally, lateral decubitus digital subtraction dynamic myelography with subsequent CT myelography identified a tiny dural venous fistula at the fourth thoracic level. After surgical venous ligation, the patient fully recovered. Awareness of spontaneous dural leaks and their heterogeneous clinical picture are important and demands an extensive workup.
Important reminder: nitrous oxide (N2O) as a cause of functional vitamin B12deficiency
Authors: Mahgoub Abdullahi Elsheikh , Deliwala Smit Sunil , Bachuwa Ghassan
Published: July 2021

A 32-year-old woman who misused multiple substances, including nitrous oxide (N2O), sought medical advice after she subacutely developed bilateral lower extremity weakness without a sensory level but with ataxia—her significant other developed similar symptoms with vitamin B12deficiency due to N2O intake. Laboratory results revealed macrocytic anaemia despite normal B12and folate levels, with serum markers pointing towards functional cobalamin deficiency. Spinal MRIs and cerebrospinal fluid analysis were unremarkable. Our patient was treated with vitamin B12supplementation with an encouraging response.
HIST1H1E syndrome with type 2 diabetes
Authors: Ahmed Mohammed S O , Rafey Mohammed , McDonnell Tara , Smith Diarmuid
Published: July 2021

A 20-year-old woman was referred to the diabetes clinic with type 2 diabetes diagnosed at the age of 19. Her body mass index was 31.4 kg/m2, HbA1C was 76 mmol/mol, GAD antibodies were negative with a detectable C-peptide. She had a characteristic facial appearance with widespread eyes, posterior hairline suggesting a facial gestalt and abnormal dentition. She also had hypothyroidism, mild intellectual disability, primary amenorrhoea and patent ductus arteriosus. Karyotyping reported normal 46XX karyotype. Genetic testing revealed a pathogenic variant in the gene encoding the HIST1H1E protein which confirmed her diagnosis of HIST1H1E syndrome. Type 2 diabetes has not been reported in previous cases of HIST1H1E and so this is the first reported case of type 2 diabetes with HIST1H1E syndrome.
Colchicine-induced rhabdomyolysis: a review of 83 cases
Authors: Abudalou Mohammad , Mohamed Ahmed S , Vega Eduardo A , Al Sbihi Ali
Published: July 2021

A 74-year-old man with medical history significant for atrial fibrillation, hyperlipidaemia and coronary artery disease on atorvastatin presented to the emergency department with profound weakness. The patient reports he first noticed his weakness 4 weeks after starting colchicine, prescribed for recurrent pericarditis with pericardial effusion, a complication following recent coronary artery bypass grafting. The patient was also on prednisone therapy for presumed post-pericardiotomy syndrome. The weakness involved all four limbs but was more notable in the lower extremities, with preserved sensation and tenderness to palpation. Labs showed an elevated creatinine phosphokinase and serum creatinine consistent with rhabdomyolysis. Discontinuation of the offending medications, including colchicine and atorvastatin, as well as intravenous fluid resuscitation with physical rehabilitation, led to improvement in the patient’s symptoms. He was eventually discharged to a rehabilitation facility to continue physical therapy.
Capnocytophaga canimorsus meningitis and bacteraemia without a dog bite in an immunocompetent individual
Authors: O'Riordan Fiona , Ronayne Aoife , Jackson Arthur
Published: July 2021

We describe the case of an immunocompetent 75-year-old man withCapnocytophaga canimorsusbacteraemia and meningitis.C. canimorsus iscommonly found in the oral flora of dogs with human infection typically occurring following a bite. Unusually, while our patient was a dog owner, there was no history of bite nor scratch mark. Admission blood cultures flagged positive for Gram-negative bacilli, but prolonged molecular analysis was required beforeC. canimorsuswas isolated in blood and cerebrospinal fluid. There is a high mortality rate in invasive infection, and in our patient’s case, antibiotic therapy was commenced prior to laboratory confirmation with our patient making a complete recovery. This case highlights the importance of includingC. canimorsusin the differential diagnosis of unwell patients who keep dogs, even without a bite. This case occurred amid heightened awareness of COVID-19, which may represent predisposition for zoonoses during social isolation and increased human–pet contact.
Intracardiac platypnea–orthodeoxia syndrome diagnosed by forward-bending and abdominal compression
Authors: Kitamura Ryo , Yoshikawa Satoshi , Ueda Takeshi
Published: July 2021

Intracardiac platypnea–orthodeoxia syndrome (POS) is a pathological condition that leads to a reduction in oxygenation in the sitting position. The detection rate of patent foramen ovale that causes POS increases with Valsalva manoeuvre and cough. We report the case of a 92-year-old woman with POS, which could not be diagnosed in the sitting position. The Valsalva manoeuvre could not be performed because of dementia, and POS was diagnosed on the forward-bending position and abdominal compression. It was assumed that forward-bending increases the right atrial pressure by compressing the right ventricle along with elongation of the aorta, and abdominal compression increases the shunt volume by increasing the venous return. If POS is suspected in patients with dementia which cannot be diagnosed in the sitting position, forward-bending and abdominal compression, instead of the Valsalva manoeuvre, might be useful.
Remission of refractory granulomatous primary cutaneous anaplastic large cell lymphoma to brentuximab vedotin
Authors: Sasapu Appalanaidu , Dunn Andrew L J , Gardner Jerad , Wong Henry K
Published: July 2021

Primary cutaneous anaplastic large cell lymphoma (PC-ALCL) is a rare non-Hodgkin’s lymphoma that arises as a single, or multiple dome-shaped tumours on the skin. The histology is characterised by the presence of atypical lymphocytes with large irregularly shaped nuclei that express the surface marker CD30. There can be significant heterogeneity in clinical manifestation and histological pattern and in rare cases accurate diagnosis can be a challenge. Here, we present an unusual case presentation of cutaneous CD30+ anaplastic large cell lymphoma with significant granulomatous histology pattern that mimicked sarcoid. After a lack of durable response to treatments that included glucocorticoid and methotrexate, targeted treatment with anti-CD30 monoclonal antibody drug conjugate (brentuximab vedotin) yielded long-term clinical remission.
Acquired localised lipoatrophy secondary to transgluteal drainage
Authors: Hamp Austin , Anderson Jarett , Bal Arjun , Hansen Nate
Published: July 2021

Acquired localised lipoatrophy is a focal loss of subcutaneous fat, which is commonly secondary to trauma, injections of medications such as antibiotics or corticosteroids, pressure, previous surgery or panniculitis. We present a case of a patient who experienced focal fat loss in the left gluteal region from a previous left transgluteal drainage of a suspected abscess. There was no medical history of corticosteroid, antibiotic injection or use of highly active antiretroviral therapy. Lipoatrophy occurring as a consequence of a deep pelvic abscess drainage has not been reported in the literature; however, based on the lack of other aetiologies, the diagnosis of acquired localised lipoatrophy secondary to a transgluteal drainage was made in this patient. The aim of this report was to present this rare cause of lipoatrophy that has not previously been described and to acknowledge lipoatrophy as a potential side effect of a deep abscess drainage.
Neonatal polycystic kidney disease: a novel variant
Authors: Finnegan Catherine , Murphy Claire , Breathnach Fionnuala
Published: July 2021

Polycystic kidney disease (PKD) is a condition typified by multiple renal cysts and renal enlargement. Classification is usually determined by mode of inheritance—autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD). ARPKD frequently presents in fetal life, but here we report a rare case of a family with two siblings diagnosed with ADPKD manifesting in utero with novel genetic findings. During the first pregnancy, enlarged cystic kidneys were noted at the gestational age (GA) of 18 weeks, which became progressively larger and anyhdramnios ensued by GA of 25 weeks. The couple opted to terminate the pregnancy. The second pregnancy similarly presented with bilateral enlarged cystic kidneys, but amniotic fluid remained normal throughout and she delivered at GA of 36 weeks. Genetic testing revealed the fetus to be heterozygous in AD PKD1, which is known to cause ADPKD and heterozygous for a hypomorphic allele for ADPKD of uncertain significance. The fetus was also found to be heterozygous in the AR PKHD1 gene with a variant not previously described in the literature. Where fetal features consistent with ARPKD are identified in the setting of familial ADPKD, this fetal manifestation of ADPKD, resulting from combined variants in the PKD1 gene, should be considered.
Giant retroperitoneal lymph node—an uncommon presentation of duodenal neuroendocrine tumour
Authors: Sakaray Yashwant , Abuji Kishore , Chatterjee Debajyoti , Irrinki Santhosh
Published: July 2021

Primary retroperitoneal neuroendocrine tumours (NETs) are extremely rare, and many a times, these are metastatic lesions with known or unknown primary location, most commonly arising from the stomach, duodenum, small intestine and rectum. NETs arising from the duodenum are more commonly seen in the first part of the duodenum followed by the second part. The incidence is increasing because of easy accessibility to endoscopies and cross-sectional imaging. In NETs, lymph node (LN) metastasis occurs commonly when the tumour size is more than 2 cm. In contrast, LN metastasis occurs even with subcentimetric lesions, especially the ampullary variant of NETs. A patient presented to us with mild abdominal pain and found to have retroduodenal mass. On evaluation found to be a metastatic LN deposit of NET with the primary arising from the first part and supra-ampullary part of duodenum.
Hypokalaemic quadriparesis with respiratory failure due to latent Sjogren syndrome
Authors: Makharia Archita , Lakhotia Manoj , Gupta Mudita , Lalwani Pradeep
Published: July 2021

Sjogren’s syndrome (SS) is an autoimmune disease with involvement of multiple organs, including both glandular and extraglandular organs. Usually involvement of glandular organs manifests before the extraglandular ones, but when the sequence is reversed, diagnosis may be missed. Hypokalaemic quadriparesis in SS is not uncommon. Respiratory failure in hypokalaemia is not usually seen, but in SS, it has been reported. We report a case of a 55-year-old woman who presented with sudden onset flaccid quadriparesis and respiratory muscle paralysis secondary to severe hypokalaemia. On detailed investigation, she was detected to have distal renal tubular acidosis secondary to clinically inapparent and asymptomatic SS.
Seat belt breast injury: a reconstructive approach to managing unilateral bisected breast deformity
Authors: Lafford George , Mulgrew Stephen , Köhler Guido , Haywood Richard
Published: July 2021

Seat belt breast deformity can result in significant aesthetic, functional and psychosocial sequelae. Although seat belt breast deformity is well documented, there is a lack of literature describing their reconstructive management. We describe the surgical management of a 63-year-old woman presenting with stage 2b seat belt breast deformity, who underwent scar revision, repositioning of the nipple–areola complex and contralateral breast reduction using Wise-pattern incisions based on superior pedicles. She made an excellent recovery with an improved aesthetic result.
Thyroid storm in the second stage of labour: a case report
Authors: Saroyo Yudianto Budi , Harzif Achmad Kemal , Anisa Beryliana Maya , Charilda Fistyanisa Elya
Published: July 2021

A thyroid storm (or thyroid crisis) is an emergency in endocrinology. It is a form of complication of hyperthyroidism that can be life-threatening. Inadequate control of hyperthyroidism in pregnancy could develop into thyroid storm, especially in the peripartum period. We present a woman came in the second stage of labour, with thyroid storm, superimposed pre-eclampsia, acute lung oedema and impending respiratory failure. Treatment for thyroid storm, pre-eclampsia protocol and corticosteroid was delivered. The baby was born uneventfully, while the mother was discharged after 5 days of hospitalisation. Delivery is an important precipitant in the development of thyroid storm in uncontrolled hyperthyroidism in pregnancy. Although very rare, it can cause severe consequences. Diagnosis and treatment guidelines for thyroid storm were available and should be done aggressively and immediately. Uncontrolled hyperthyroidism should be prevented by adequate control in thyroid hormone levels, especially before the peripartum period.
Loperamide-induced cardiotoxicity: a case overlooked?
Authors: Iqbal Sameen , Fayyaz Sidra Malik , Saeed Yawer , Aqeel Masooma
Published: July 2021

A young man presented to the emergency department with seizures and recurrent episodes of polymorphic ventricular tachycardia (PMVT)/torsades de pointes (TdP) requiring cardioversion and administration of intravenous magnesium. A battery of tests performed to identify a cause for his arrhythmias and seizures were all normal. A revisit of history with family revealed he had consumed over 100 tablets/day of loperamide for the past 1 year. A prolonged QT interval on his ECG raised concerns for long QT syndrome (LQTS) (congenital or acquired). Our patient was suspected to have loperamide-induced cardiotoxicity. TdP is a specific PMVT that occurs with a prolonged QT interval and is usually drug-induced. Less frequently, congenital LQTS may be implicated. With supportive care, including mechanical ventilation, vasopressors and temporary transvenous overdrive pacing, our patient recovered completely. We describe the importance of a systematic and time-sensitive approach to diagnosing critical illness. Loperamide overdose may cause QT prolongation, life-threatening arrhythmias/cardiogenic shock, or cardiac arrest. Seizures/epilepsy may also be a manifestation in young patients. There is a substantial need to revisit the safety of over-the-counter medications and increasing awareness of manifestations of drug overdose.
The diagnostic challenge of acute Q fever endocarditis
Authors: Moreira Marques Torcato , Cruz Lourenço , Soares Raquel , Eusébio Sofia
Published: July 2021

A 79-year-old man was admitted to our ward with symptomatic heart failure 2 months after aortic valve replacement due to severe aortic stenosis. On the third day following admission, he became febrile (>38°C) while manifesting an increase in inflammatory markers. Endocarditis was suspected despite negative blood cultures. Echocardiogram (transthoracic and transesophageal) did not describe any vegetations. No hypermetabolic lesions were described on the Positron emission tomography scan. Empirical antibiotics were started but the fever persisted. Serologies revealed aCoxiella burnetiiIgG phase II titre of 1:800, high erythrocyte sedimentation rate. Positive antinuclear antibodies, antibeta2 IgM and anticardiolipin supported a diagnosis of acute Q fever endocarditis. Doxycycline and hydroxychloroquine were started with total resolution of symptoms. This case illustrates the difficulty of diagnosing Q fever endocarditis during its acute phase, not only because vegetations can be minimal or absent, a challenge that is further compounded by a complex presentation of immunological markers.
Symptoms of acute transfusion reactions at a general referral hospital in Kinshasa, Democratic Republic of Congo: a cross-sectional study
Authors: Musumari Patou Masika , Mbikayi Samclide Mutindu , Srithanaviboonchai Kriengkrai , Techasrivichien Teeranee , Tangmunkongvorakul Arunrat , Tshilolo Léon
Published: July 2021

Objectives

Blood transfusion is a life-saving procedure and is also associated with a range of risks including the occurrence of symptoms of acute transfusion reactions (ATRs). Very few studies in sub-Saharan Africa have reported on ATRs. The present study addresses this gap in the literature by documenting the prevalence of and factors associated with ATRs in the Democratic Republic of Congo (DRC).

Design

This is a cross-sectional descriptive and analytical study using blood bank data from a general referral hospital.

Setting

Centre Hospitalier Mère-Enfant (CHME) Monkole, a general referral hospital in Kinshasa, DRC.

Participants

General population who have received blood transfusion in CHME Monkole between 2014 and 2019.

Results

The data set included a total of 7166 patients; 3153 (44%) men and 4013 (56%) women. The overall prevalence of symptoms of ATRs was 2.6%; the lowest prevalence was in 2017 (2.34%) and highest in 2018 (2.95%) and 2019 (2.94%). The documented symptoms included 74 (39.6%) cases of dyspnoea/respiratory distress, 60 (32.1%) cases of fever, 36 (19.2%) cases of pruritus/urticaria and 17 (9.1%) cases of vomiting. None of the studied factors was associated with symptoms of ATRs.

Conclusion

Symptoms of ATRs were not uncommon in the studied population. Dyspnoea and respiratory distress, fever and pruritus/urticaria were the most common symptoms of ATRs. This study highlights the need for a clinical and biological surveillance to detect, prevent and manage ATRs in the context of the DRC.
Discharge communication study: a realist evaluation of discharge communication experiences of patients, general practitioners and hospital practitioners, alongside a corresponding discharge letter sample
Authors: Weetman Katharine , Dale Jeremy , Scott Emma , Schnurr Stephanie
Published: July 2021

Objectives

To develop a programme theory for the intervention of patients receiving discharge letters.

Design

We used a realist evaluation approach and captured multiple perspectives of hospital discharge to refine our previously developed programme theory. General practitioner (GP), patient and hospital clinician views of a single discharge event in which they were all involved were collected using semi-structured interviews and surveys. These were then triangulated to match the corresponding discharge letter. Data were qualitatively synthesised and compared in meta-matrices before interrogation with realist logic of analysis to develop the programme theory that maps out how patients receiving discharge letters works in specific contexts.

Setting

14 GP practices and four hospital trusts in West Midlands, UK.

Participants

10 complete matched cases (GP, patient and hospital practitioner), and a further 26 cases in which a letter was matched with two out of the three participants.

Results

We identified seven context mechanism outcome configurations not found through literature searching. These related to the broad concepts of: patient preference for receiving letters, patient comprehension of letters, patient-directed letters, patient harm and clinician views on patients receiving letters. ‘Patient choice’ was important to the success (or not) of the intervention. Other important contexts for positive effects included: letters written in plain English, lay explanations for jargon, verbal information also provided, no new information in letter and patient choice acknowledged. Three key findings were: patient understanding is perhaps greater than clinicians perceive, clinician attitudes are a barrier to patients receiving letters and that, negative outcomes more commonly manifested when patients had not received letters, rather than when they had.

Conclusions

We suggest how patients receiving discharge letters could be improved to enhance patient outcomes. Our programme theory has potential for use in different healthcare contexts and as a framework for policy development relating to patient discharge.
How stress, discrimination, acculturation and the gut microbiome affect depression, anxiety and sleep among Chinese and Korean immigrants in the USA: a cross-sectional pilot study protocol
Authors: Kim Sangmi , Zhang Wenhui , Pak Victoria , Aqua Jasmine Ko , Hertzberg Vicki Stover , Spahr Chandler M , Slavich George M. , Bai Jinbing
Published: July 2021

Introduction

Although a considerable proportion of Asians in the USA experience depression, anxiety and poor sleep, these health issues have been underestimated due to the model minority myth about Asians, the stigma associated with mental illness, lower rates of treatment seeking and a shortage of culturally tailored mental health services. Indeed, despite emerging evidence of links between psychosocial risk factors, the gut microbiome and depression, anxiety and sleep quality, very few studies have examined how these factors are related in Chinese and Korean immigrants in the USA. The purpose of this pilot study was to address this issue by (a) testing the usability and feasibility of the study’s multilingual survey measures and biospecimen collection procedure among Chinese and Korean immigrants in the USA and (b) examining how stress, discrimination, acculturation and the gut microbiome are associated with depression, anxiety and sleep quality in this population.

Method and analysis

This is a cross-sectional pilot study among first and second generations of adult Chinese and Korean immigrants in the greater Atlanta area (Georgia, USA). We collected (a) gut microbiome samples and (b) data on psychosocial risk factors, depression, anxiety and sleep disturbance using validated, online surveys in English, Chinese and Korean. We aim to recruit 60 participants (30 Chinese, 30 Korean). We will profile participants’ gut microbiome using 16S rRNA V3-V4 sequencing data, which will be analysed by QIIME 2. Associations of the gut microbiome and psychosocial factors with depression, anxiety and sleep disturbance will be analysed using descriptive and inferential statistics, including linear regression.

Ethics and dissemination

This study has been approved by the Institutional Review Board at Emory University (IRB ID: STUDY00000935). Results will be made available to Chinese and Korean community members, the funder and other researchers and the broader scientific community.
Comparison of antimicrobial efficacy of Calcipex and Metapex in endodontic treatment of chronic apical periodontitis: a randomised controlled trial study protocol
Authors: Motiwala Momina Anis , Habib Saqib , Ghafoor Robia , Irfan Seema
Published: July 2021

Introduction

Various intracanal medicaments have been used in cases of chronic apical periodontitis for appropriate disinfection of the root canal system to eliminate microbes especially from the inaccessible areas. Calcium hydroxide is the most common intracanal medicament available in various forms, but its effectiveness with or without iodoform using microbial culture is unknown. Therefore, our aim is to compare the antimicrobial efficacy of Calcipex and Metapex in endodontic treatment of teeth presenting with chronic apical periodontitis by assessing the bacterial load reduction.

Method and analysis

60 single rooted teeth of patients with diagnosis of chronic apical periodontitis will be selected and the canals debrided chemomechanically. The patients will be randomised into two groups: Calcipex and Metapex. The first sample (S1) for bacterial culture will be taken before placement of intracanal medicament and the second sample (S2) will be taken after 7 days, before final obturation from the canal and sent to lab for culture. Colony-forming unit will be evaluated. Paired t-test will be used to assess difference between antimicrobial efficacies within the group of medicaments. Independent sample t-test will be used to assess antimicrobial efficacies between groups. Level of significance will be kept at 0.05.

Ethics and dissemination

Approval from Aga Khan University Hospital Ethical review committee is taken. Findings will be reported according to the Standard Protocol Items for Randomised Trials guidelines. Research findings will be disseminated through annual reports, peer-reviewed journals and conferences.

Trial registration number

NCT04336709.