bluuebunny/crossref_metadata_2025_split huggingface dataset:
Observation of the Absence of Ulnar Artery in a Patient Planned to Free Dorsoulnar Artery Perforator Flap for Finger Defect: Is Preoperative Doppler evaluation of Perforator Alone Sufficient?
Authors: Tatar Burak Ergün , Uslu Can , Erdem Mehmet , Sabancıogullarından Fahri , Gelbal Caner , Bozkurt Mehmet 
Published: June 2021

Abstract
Background Volar finger defects where critical structures exposed are always challenging for plastic surgeons. In these types of defects, local flaps, cross finger flaps, abdominal flaps, and free flaps are used. Free dorsoulnar artery perforator (DUAP) flaps and superficial palmar branch of radial artery (SPBRA) flaps are also used. In this case, we present a patient who was scheduled to receive a DUAP flap to address defect on the second finger of right hand; however, we repaired the defect with a SPBRA flap because intraoperative absence of the ulnar artery was observed.
Materials and Methods A 34-year-old male patient was admitted with a wound that exposed the tendon and neurovascular bundle on the volar side of the second finger of the right hand. A free DUAP flap was planned for the patient. A perforator was detected during the preoperative Doppler ultrasound examination. While dissecting the perforator, we noted the absence of an ulnar artery proximal to the perforator vessel. The elevated SPBRA flap from same extremity and the defect were closed.
Results Postoperative computer tomography showed an absence of the ulnar artery distal to the right antecubital region. No complications were seen in the donor and recipient areas. Long-term motor movements were natural, and the patient's quality of life was good.
Conclusion Determining the perforator site using Doppler alone may not be sufficient in preoperative evaluation of patients scheduled to receive DUAP flaps. Performing an Allen test and using advanced imaging methods can prevent surgeons from encountering a bad surprise.
Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature
Authors: Xia Changqing , Kumar Dibyendu , You Bei , Streck Deanna L. , Osborne Lisa , Dermody James , Jiang Jie-Gen , Pletcher Beth A. 
Published: June 2021

AbstractWolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery. She was small for the gestational age (2,045 g) and admitted to neonatal intensive care unit. She had typical WHS facial features and was found to have bilateral small kidneys associated with transient metabolic acidosis and renal insufficiency. She had right-sided sensorineural hearing loss, a small atrial septal defect, and colpocephaly and hypoplasia of corpus callosum. She had a single seizure which was well controlled with an oral antiepileptic medication. Cytogenetic studies demonstrated a large terminal chromosome 4p deletion (21.4 Mb) and 4p duplication (2.1 Mb) adjacent to the deletion. A unique finding in this patient is her consistently elevated levels of parathyroid hormone and serum calcium, suggesting hyperparathyroidism. We present this rare case along with a review of the literature and hope to draw an attention to a potential relationship between WHS and hyperparathyroidism.
Timing of Pediatric Palliative Care Consults in Hospitalized Patients with Heart Disease
Authors: Green Danielle J. , Bennett Erin , Olson Lenora M. , Wawrzynski Sarah , Bodily Stephanie , Moore Dominic , Mansfield Kelly J. , Wilkins Victoria , Cook Lawrence , Delgado-Corcoran Claudia 
Published: June 2021

AbstractPediatric palliative care (PPC) provides an extra layer of support for families caring for a child with complex heart disease as these patients often experience lifelong morbidities with frequent hospitalizations and risk of early mortality. PPC referral at the time of heart disease diagnosis provides early involvement in the disease trajectory, allowing PPC teams to longitudinally support patients and families with symptom management, complex medical decision-making, and advanced care planning. We analyzed 113 hospitalized pediatric patients with a primary diagnosis of heart disease and a PPC consult to identify timing of first PPC consultation in relation to diagnosis, complex chronic conditions (CCC), and death. The median age of heart disease diagnosis was 0 days with a median of two CCCs while PPC consultation did not occur until a median age of 77 days with a median of four CCCs. Median time between PPC consult and death was 33 days (interquartile range: 7–128). Death often occurred in the intensive care unit (n = 36, 67%), and the most common mode was withdrawal of life-sustaining therapies (n = 31, 57%). PPC referral often occurred in the context of medical complexity and prolonged hospitalization. Referral close to the time of heart disease diagnosis would allow patients and families to fully utilize PPC benefits that exist outside of end-of-life care and may influence the mode and location of death. PPC consultation should be considered at the time of heart disease diagnosis, especially in neonates and infants with CCCs.
Early Infantile Thiamine Transporter-2 Deficiency with Epileptic Spasms—A Phenotypic Spectrum with a Novel Mutation
Authors: Mishra Ranjana , Bijarnia-Mahay Sunita , Kumar Praveen , Buxi Tarvinder Bir Singh , Kulshrestha Samarth , Kuldeep Jitendra , Gupta Deepti , Saxena Renu , Sabharwal Rama Kant 
Published: June 2021

AbstractEpileptic seizures are a frequent feature of thiamine transporter deficiency that may present as a clinical continuum between severe epileptic encephalopathy and mixed focal or generalized seizures. Thiamine metabolism dysfunction syndrome 2 (MIM: 607483) or biotin-thiamine-responsive basal ganglia disease (BTBGD) due to biallelic pathogenic mutation in the SLC19A3 gene is a well-recognized cause of early infantile encephalopathy with a Leigh syndrome-like presentation and a lesser-known phenotype of atypical infantile spasms. We reported a 4-month-old infant who presented with progressive epileptic spasms since 1 month of age, psychomotor retardation, and lactic acidosis. Magnetic resonance imaging (MRI) revealed altered signal intensities in bilateral thalamic and basal ganglia, cerebellum, brainstem, cortical and subcortical white matter. Whole exome sequencing identified a homozygous ENST00000258403.3: c.871G > C (p.Gly291Arg) variant in the SLC19A3 gene. We elucidate the features in the proband, which were an amalgamation of both the above subtypes of the SLC19A3 associated with early infantile encephalopathy. We also highlight the features which were atypical for either “Leigh syndrome-like” or “atypical infantile spasm” phenotypes and suggest that the two separate entities can be merged as a clinical continuum. Treatment outcome with high-dose biotin and thiamine is promising. In addition, we report a novel pathogenic variant in the SLC19A3 gene.
Description and Validation of a Novel Score (Flow Index) as a Clinical Indicator of the Level of Respiratory Support to Children on High Flow Nasal Cannula
Authors: Tripathi Sandeep , Mcgarvey Jeremy S. , Shaikh Nadia , Meixsell Logan J. 
Published: June 2021

AbstractThis study's objective was to describe and validate flow index (flow rate × FiO2/weight) as a method to report the degree of respiratory support by high flow nasal cannula (HFNC) in children. We conducted a retrospective chart review of children managed with HFNC from January 1, 2015 to December 31, 2019. Variables included in the flow index (weight, fraction of inspired oxygen [FiO2], flow rate) and outcomes (hospital and intensive care unit [ICU] length of stay [LOS], escalation to the ICU) were extracted from medical records. Max flow index was defined by the earliest timestamp when patients FiO2 × flow rate was maximum. Step-wise regression was used to determine the relationship between outcome (LOS and escalation to ICU) and flow index. Fifteen hundred thirty-seven patients met the study criteria. The median first and maximum flow indexes of the population were 24.1 and 38.1. Both first and maximum flow indexes showed a significant correlation with the LOS (r = 0.25 and 0.31, p < 0.001). Correlation for the index was stronger than that of the variables used to calculate them and remained significant after controlling for age, race, sex, and diagnoses. Mild, moderate, and severe categories of first and max flow index were derived using quartiles, and they showed significant age and diagnosis independent association with LOS. Patients with first flow index >20 and maximum flow index >59.5 had increased odds ratio of escalation to ICU (odds ratio: 2.39 and 8.08). The first flow index had a negative association with rapid response activation. Flow index is a valid measure for assessing the degree of respiratory support for children on HFNC.
A Case of Influenza Virus-Induced Acute Cerebellitis Treated with Steroid Pulse Therapy
Authors: Hirota Yukiho , Minamikawa Shogo , Ishida Yusuke , Maruyama Azusa , Nakagishi Yasuo 
Published: June 2021

AbstractAcute cerebellitis (AC) is characterized by acute onset cerebellar ataxia brain magnetic resonance imaging (MRI) abnormalities of the cerebellum. The most common cause of AC is viral infection, and some patients with AC experience neurological sequelae. AC associated with influenza virus is extremely rare, and its prognosis and treatment are unknown. We present the case of a 2-year-old boy with influenza virus-induced AC who was treated with pulse steroid therapy. The patient presented with fever, anorexia, vomiting, malaise, altered consciousness, truncal ataxia, dysmetria, and dysarthria. He was diagnosed with influenza using a nasopharyngeal antigen test. Brain MRI showed hyperintense T2 and diffusion-weighted signal abnormalities in the cerebellar white matter and dentate nuclei bilaterally. The patient was treated with two courses of pulse methylprednisolone therapy and recovered completely in 2 months after the onset. The prognosis of AC is poorer than that of acute cerebellar ataxia, which shows similar symptoms to AC with normal brain MRI. The type of virus might also be associated with the prognosis of AC. Literature review showed that one of the five cases (including the present case, 20%) reported with influenza-associated AC was noted to have neurological sequelae, which might be more severe than those of varicella-zoster-related AC. Given that the pathogenesis of AC is assumed to be immune-mediated, pulse methylprednisolone therapy might be a good option for the treatment of influenza virus-induced AC.
The Impact of Haemophilus Influenzae and Streptococcus Pneumoniae Vaccination in Bacterial Meningitis in a Pediatric Referral Hospital in Mexico
Authors: Macias Parra Mercedes , Medina-Vera Isabel , Arias De la Garza Eduardo , Rodriguez Weber Miguel A. , León-Lara Ximena 
Published: June 2021

Abstract
Objective This study aimed to compare the epidemiology of bacterial meningitis (BM) before and after vaccination, and identify possible risk factors associated with mortality.
Methods The medical and microbiologic records of children (1 month–18 years) with a discharge diagnosis of BM in a third level children's hospital in Mexico from 1990 to 2018 were reviewed. The epidemiology, pathogens, and outcomes were compared before and after introducing Haemophilus influenzae type b (Hib) and pneumococcal conjugate vaccines to the Mexican immunization schedule. Risk factors associated with mortality were determined.
Results In the 28-year period, 226 cases with BM were included 55.8% (1990–1999), 27.4% (2000–2008), and 16.8% (2009–2018) (p = 0.0001). The most frequent pathogen was Hib, documented in 39% of cases. There was a reduction in neurological complications after introducing the Hib conjugate vaccine (59 vs. 39%; p = 0.003) and sequelae after the Streptococcus pneumoniae conjugate vaccine (43 vs. 35%; p = 0.05). Independent risk factors associated with mortality were coma (odds ratio [OR]: 15 [2.9–78]), intracerebral bleeding (OR: 3.5 [1.4–12]), and pneumococcal meningitis (OR: 9.4 [2.2–39]).
Conclusion Since the introduction of Hib and pneumococcal conjugate vaccines to the national immunization schedule, there was a reduction in BM cases, mainly associated with the Hib vaccine, with the consequent reduction of neurological complications and sequelae.
A Case Report of Mycetoma and Cranial Osteomyelitis by Nocardia nova
Authors: Vilardouro Ana Sofia , Ferreira João , Alpalhão Miguel , Neves Marco , Marques José Gonçalo , Filipe Paulo 
Published: June 2021

AbstractMycetoma is a chronic, localized, slowly progressive, granulomatous infection of the skin that may progress to subcutaneous tissue, muscle and bone. It is an infrequent manifestation of Nocardia infection that predominantly occurs on the lower extremities.A previously healthy, 17-year-old boy presented to us with a 3-month history of scalp abscesses. On physical examination he had numerous, large left parietal and occipital inflammatory nodules on the scalp covered by alopecic skin and several sinuses discharging a purulent and serosanguinous material. He underwent a CT-scan and an MRI of the skull that revealed signs of cranial osteomyelitis and epidural empyema. Polymerase chain reaction assay of the purulent exudate was performed and identified Nocardia nova. The patient was discharged from the hospital after 8 weeks of antibiotherapy with meropenem and TMP-SMX with clinical, laboratorial and imaging improvement. He completed 12 months of outpatient oral therapy with TMP-SMX, after which cranial CT-scan showed a significant reduction of soft tissue thickening and bone reconstitution, with no relapses after stopping the treatment.The best antibiotic regimen and length of treatment are not established for the management of nocardiosis. This is an unusual and severe presentation of infection by Nocardia nova with extent to the bone and epidural space, with full recovery under standard antibiotic therapy. This case shows that a good outcome may be achieved with prolonged antimicrobial treatment in an immunocompetent patient.
A Curious Case of Progressive Respiratory Failure Due to Anterior Spinal Cord Infarction in an Adolescent Boy: A Case Report and Review of the Literature
Authors: Putzeys Caroline Chinchilla , Batra Mansi , Maertens Paul , Sharma Kamal 
Published: June 2021

AbstractClinical features of cervical spontaneous spinal cord infarctions (SSCIs) remain poorly described in the literature. The goal of this article was to improve recognition of cervical SSCI, a rare but life-threatening condition. We presented a 15-year-old adolescent male patient who developed neck pain with weakness and numbness in all four limbs half an hour after returning from a hike in the late afternoon. The next morning, he was brought to the emergency room due to persistent weakness, vomiting, and progressive respiratory distress. He was promptly intubated for airway protection. Pupils were 2 mm, sluggishly reactive, and all four extremities were flaccid. He was found to have anterior spinal cord syndrome. Light touch (brush) was normal down to the posterior aspect of shoulders. Cervical magnetic resonance imaging (MRI) showed increased T2/short-tau inversion recovery and decreased T1 signal of the anterior spinal cord from C3 to C7. Four days later, MRI of the spinal cord showed restricted diffusion of anterior spinal cord consistent with radicular artery territory infarction. The work-ups for infection, thrombosis, and cardioembolism were all negative. Three months later, he still had incomplete Brown-Séquard's syndrome, as position sense was preserved. There was in addition bilateral loss of pain and temperature sensations below the clavicles. MRI showed cervical myelomalacia most severe between C3 and C5. Furthermore, MRI showed changes in C3–C4 intervertebral disc, consistent with a fibrocartilaginous embolism via retrograde arterial route into the anterior spinal artery. This article demonstrates the importance of recognizing subtle clinical clues leading to cervical SSCI diagnosis.
Superomedial Reduction Mammoplasty Affects Patients’ Ability to Breastfeed in a Distinct Manner: A Multicenter Study of 303 Patients
Authors: Jørgensen Mads Gustaf , Albertsdottir Elin , Dalaei Farima , Hesselfeldt-Nielsen Jørgen , Schmidt Volker-Jürgen , Sørensen Jens Ahm , Toyserkani Navid Mohamadpour 
Published: June 2021

Abstract

Background
Breast reduction by the superomedial technique can relieve symptoms related to breast hypertrophy; however, as the lateral and inferior portion of the breast parenchyma is removed and displaced, reduction mammoplasty may lead to an impaired ability to breastfeed.

Objectives
The aim of this study was to assess patients’ ability to breastfeed after superomedial reduction mammoplasty.

Methods
This was a cross-sectional study including patients treated with superomedial reduction mammoplasty between January 2009 and December 2018 at 2 tertiary hospitals in Denmark. Patients were stratified into 2 cohorts, depending on whether they had experienced childbirth before or after their reduction mammoplasty. Patients were sent specific questionnaires regarding maternity, breastfeeding before and after reduction mammoplasty, nipple sensitivity, and current demographic information. Operative details were retrieved from electronic medical records.

Results
In total, 303 patients were identified as eligible for this study (37 patients giving birth after and 266 before reduction mammoplasty). Fewer patients were able to breastfeed exclusively for the recommended 6 months after reduction mammoplasty (2/37, 5.41%) compared with before (92/266, 34.59%; P &lt; 0.05). In addition, fewer patients were able to breastfeed at all after reduction mammoplasty (18/37, 48.64%) compared with before mammoplasty (241/266, 90.60%; P &lt; 0.001). Patients unable to breastfeed after reduction mammoplasty had lower nipple sensitivity and more breast tissue excised (P &lt; 0.05).

Conclusions
Superomedial reduction mammoplasty seems to impair the patient’s ability to breastfeed exclusively for the recommended 6 months. Patients of childbearing age considering reduction mammoplasty should be made aware that reduction mammoplasty reduces their breastfeeding capacity.

Level of Evidence: 4
Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2
Authors: Giovannelli Ilaria , Bayatti Nadhim , Brown Abigail , Wang Dennis , Mickunas Marius , Camu William , Veyrune Jean-Luc , Payan Christine , Garlanda Cecilia , Locati Massimo , Juntas-Morales Raul , Pageot Nicolas , Malaspina Andrea , Andreasson Ulf , Suehs Carey , Saker Safa , Masseguin Christophe , de Vos John , Zetterberg Henrik , Al-Chalabi Ammar , Leigh P Nigel , Tree Timothy , Bensimon Gilbert , Heath Paul R , Shaw Pamela J , Kirby Janine 
Published: June 2021

Abstract
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease causing upper and lower motor neuron loss and currently no effective disease-modifying treatment is available. A pathological feature of this disease is neuroinflammation, a mechanism which involves both CNS-resident and peripheral immune system cells. Regulatory T-cells are immune-suppressive agents known to be dramatically and progressively decreased in patients with amyotrophic lateral sclerosis. Low-dose interleukin-2 promotes regulatory T-cell expansion and was proposed as an immune-modulatory strategy for this disease. A randomized placebo-controlled pilot phase-II clinical trial called Immuno-Modulation in Amyotrophic Lateral Sclerosis was carried out to test safety and activity of low-dose interleukin-2 in 36 amyotrophic lateral sclerosis patients (NCT02059759). Participants were randomized to 1MIU, 2MIU-low-dose interleukin-2 or placebo and underwent one injection daily for 5 days every 28 days for three cycles. In this report, we describe the results of microarray gene expression profiling of trial participants' leukocyte population. We identified a dose-dependent increase in regulatory T-cell markers at the end of the treatment period. Longitudinal analysis revealed an alteration and inhibition of inflammatory pathways occurring promptly at the end of the first treatment cycle. These responses are less pronounced following the end of the third treatment cycle, although an activation of immune-regulatory pathways, involving regulatory T-cells and T helper 2 cells, was evident only after the last cycle. This indicates a cumulative effect of repeated low-dose interleukin-2 administration on regulatory T-cells. Our analysis suggested the existence of inter-individual variation amongst trial participants and we therefore classified patients into low, moderate and high-regulatory T-cell-responders. NanoString profiling revealed substantial baseline differences between participant immunological transcript expression profiles with the least responsive patients showing a more inflammatory-prone phenotype at the beginning of the trial. Finally, we identified two genes in which pre-treatment expression levels correlated with the magnitude of drug responsiveness. Therefore, we proposed a two-biomarker based regression model able to predict patient regulatory T-cell-response to low-dose interleukin-2. These findings and the application of this methodology could be particularly relevant for future precision medicine approaches to treat amyotrophic lateral sclerosis.
Cardiac transplant recipient with COVID-19 induced acute hypoxic respiratory failure: a case report
Authors: Schreiber Ariyon , Elango Kalaimani , Hong Kimberly , Ahsan Chowdhury 
Published: June 2021

Abstract

Background
Heart transplant recipients represent a particularly vulnerable patient population to the novel coronavirus disease 2019 (COVID-19) due to chronic immunosuppression and high rates of comorbidities. Currently, data are limited and evidence to guide management of heart transplant recipients with COVID-19 is sparse. In this case report, we provide a summary of the current literature as well as an in-depth analysis of our clinical decision-making.

Case summary
A 67-year-old female who underwent cardiac transplantation 1 year prior was found to have acute hypoxic respiratory failure due to COVID-19. Her immunosuppressant medications were modulated with discontinuation of mycophenolate and titration of tacrolimus troughs with a goal of 6–10 ng/dL. She was administered supportive treatment including convalescent plasma, remdesivir, and dexamethasone, in addition to antibiotic treatment that resulted in resolution of her symptoms within a matter of days despite her precarious disposition.

Discussion
This case demonstrates that it can be safe and efficacious to modulate immunosuppressant medications in cardiac transplant recipients in accordance with recommendations made by the International Society of Heart and Lung Transplantation. This case additionally demonstrates that aspects of the current literature regarding the management of COVID-19 can be safely extrapolated to cardiac transplant recipients. Providing supportive care with dexamethasone, remdesivir, and convalescent plasma as indicated can be beneficial in cardiac transplant recipients; although, the current literature regarding convalescent plasma and remdesivir is conflicting.