tbuckley/cabot-search huggingface dataset:
O10 Multifocal congenital haemangiomas: expanding our understanding of “neonatal haemangiomatosis” – case series
Authors: Daniela Peeva, Gabriela Petrof, Lea Solman
Journal: British Journal of Dermatology (2024)

Abstract Background Congenital haemangiomas are benign vascular tumours, typically solitary, categorised by their postnatal behaviour as rapidly involuting, non-involuting, or partially involuting. Histologically, they differ from infantile haemangiomas by the lack of immunostaining for GLUT-1. We present three infants with congenital, small, multifocal, non-progressive haemangiomas on the skin. Cases Our first patient was a male, born with 18 small vascular lesions. Abdominal ultrasound showed three vascular lesions in his liver and one in his left kidney, which were not visible on the repeated ultrasound in 3 months. MRI of the thorax showed a vascular lesion in the right hemithorax. He was completely asymptomatic, and the lung lesion was monitored annually with ultrasound. The second patient was a male, born with eight vascular lesions. He had an abdominal ultrasound, which was clear. He was also asymptomatic, and the lesions disappeared in the first year. The third patient was a female, born with 24 vascular lesions. Cranial ultrasound was clear; however, MRI head revealed nine punctate white matter lesions suggestive of vascular lesions. She had three small foci in the liver, consistent with haemangiomas, which were not detected after 6 weeks. All three patients had skin biopsy, which showed thin-walled dilated vessels in the dermis, negative for GLUT1 and D240. None of the patients had coagulopathy. Conclusion These three cases expand the diagnosis of congenital haemangioma to include a multifocal phenotype and demonstrate their possible association with visceral and intracranial lesions/abnormalities.
P16 Hypopigmented Mycosis Fungoides in a Caucasian child
Authors: Sheena Bhadresha, Zahra Moledina, Angela Tewari
Journal: British Journal of Dermatology (2024)

Abstract We report a case of hypopigmented MF in an 8-year-old Caucasian boy whose skin had been managed as pityriasis alba for a number of years. On initial presentation to the emergency department, multiple non-itchy scattered hypopigmented macules were incidentally noted on the lower abdomen, groin, lateral flanks and axillae. Physical examination revealed widespread hypopigmented patches. Differential diagnoses included pityriasis alba or post inflammatory hypopigmentation secondary to atopic dermatitis. He was initially managed with mild to moderate corticosteroids and emollients, but continued to develop multiple atypical asymmetrical macules, particularly on the lower abdomen and groin. Although the skin was responsive to anti-inflammatory treatment, given the progression, a skin biopsy was requested. A lesional punch biopsy from the abdomen revealed focal lymphocyte exocytosis and interface change at the epidermis. Given the subtle findings the case was discussed at our histopathology MDT meeting. Further specialist review of the histopathology showed clinicopathological correlation in keeping with CD8+ mycosis fungoides (hypopigmented variant). He is currently managed with regular potent topical steroids, 0.1% topical tacrolimus. TL01 phototherapy has been suggested. Juvenile onset MF constitutes hypopigmented, poikilodermatosis, pityriasis lichenoides-like, folliculotropic, and pigmented purpura- like presentations1. Generally there is no disease progression beyond stage 1A or 1B disease2. Hypopigmented MF is well described in black and Asian skin types but it is also important to appreciate that multiple reoccurring atypical hypopigmented patches in Caucasian skin may also be a variant of hypopigmented MF.
P28 Congenital Cellular Plexiform Schwannoma Masquerading as Infantile Haemangioma – A Case Report
Authors: Jadesola Oyedepo, Olga Slater, Lea Solman
Journal: British Journal of Dermatology (2024)

Abstract Introduction Schwannomas are tumours of the peripheral nerve sheath that rarely metastasize but are prone to recurrence. They sometimes occur in the context of syndromes such as neurofibromatosis type 2, Carney complex, and schwannomatosis. Congenital schwannomas appear as an erythematous patch that increases in size in the first few weeks and can be easily mistaken for infantile haemangioma (IH). Case A 3-month-old boy was referred to us for suspected IH on the dorsum of his right hand. At birth, he had a slightly erythematous patch but was rapidly increasing in size. Initial ultrasound done locally suggested it may be an IH based on the demonstration of arterial and venous flows. He was otherwise well, and there were no concerns about his growth or development. On examination, he had a firm mass, measuring 3 cm in diameter, that was not clinically in keeping with a vascular anomaly. Our repeated ultrasound showed a solid tumour, possibly fibrosarcoma or myofibroma. Biopsy confirmed cellular plexiform schwannoma and he underwent excision. The results of whole genome sequencing are pending (SMARC-1 and NF), and he remains under the care of the oncology team. Conclusion Clinicians assessing infants with “haemangiomas” have a difficult task of differentiating them from other soft tissue tumours. The clinical appearance of vascularity, along with high vascular flow seen on the imaging, cannot always rule out soft tissue tumours. Assessment of firmness can be somewhat subjective, but any vascular lesion that is very firm should be investigated further.
P25 Two cases of multicentric dermatofibrosarcoma Protuberans (DFSP) and adenosine deaminase deficient-severe combined immunodeficiency (ADA-SCID) in a tertiary centre
Authors: Louis Gardner, Anna Dubois, Suzy Leech, Mary Slatter, Andy Gennery, Zohreh Nademi
Journal: British Journal of Dermatology (2024)

Abstract Dermatofibrosarcoma Protuberans (DFSP) are uncommon soft tissue sarcomas that are rarely metastatic though usually high-risk for local aggression and recurrence. DFSP is associated with t(17;22)(q22;q13) chromosomal translocation resulting in COL1A1-platelet-derived growth factorβ(PDGFB) fusion gene(Kesserwan et al. 2009). We present two patients referred to Dermatology at very different ages (patient A 12 years; patient B 6 months) with atrophic plaques and atypical nodules respectively, later demonstrated to be rare cases of multicentric DFSPs. Both were known adenosine deaminase deficient-severe combined immunodeficiency patients (ADA-SCID), associated with multiple additional pathologies(Ochs et al. 2007). Patient A had been treated aged 6 months by undergoing bone marrow transplant (BMT) from an unrelated donor, but did not present with skin lesions until ∼11 years later, whereas Patient B was referred to our centre from another country for BMT and had lesions incidentally detected whilst temporarily in the UK. Histology for both patients demonstrated a paucicellular highly infiltrative spindle cell proliferation in the deep dermis and subcutis and CD34 positivity, consistent with DFSP. Patient A’s tissue was sent to the Northern Genetics Service and the COL1A1-PDGFB fusion gene was detected. Both patients were referred to plastic surgery for multiple excisions (A-3; B-10 lesions). Patient A has since had two further plastic surgery procedures for further or wider excisions. An association between DFSP and ADA-SCID has become more widely reported, though as is highlighted by our two very different cases little is known about timing of presentations, optimal treatment and prognosis.
P20 A Rare Case of Hereditary Mucoepithelial Dysplasia With Long Term Follow Up
Authors: Evangelia Vetsiou, Emily Hayes, Simon Holden, Nigel Burrows
Journal: British Journal of Dermatology (2024)

Abstract This 28-year old woman initially presented at 2 years of age with patchy alopecia, perianal erythema and widespread rough skin. Prior to her first birthday she was diagnosed with bilateral corneal ulceration and was treated initially with soft contact lenses. She had no features of ichthyosis or hyperkeratosis and teeth, nails and eyelashes were normal. The hair loss progressed with involvement of the eyebrows. On examination, there was widespread keratosis pilaris, perianal and vulval erythema and angular cheilitis. Light microscopy of the cut hair was essentially normal. A clinical diagnosis of hereditary mucoepithelial dysplasia was made at that time. She recently underwent genetic testing which has confirmed the diagnosis. She is now registered blind and wears a wig. Her IQ is normal. Hereditary mucoepithelial dysplasia (HMD; OMIM 158310) is a rare autosomal dominant genodermatosis characterised by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and psoriasiform perineal intertrigo. A novel causative heterozygous pathogenic variant c.1580G&amp;gt;T (p.Arg527Leu) was identified in our patient in the sterol regulatory element-binding factor 1 (SREBF1) gene. This is involved in promoting the transcription of lipogenes that are associated with epidermal cholesterol and fatty acid biosynthesis. HMD is allelic with autosomal dominant IFAP showing considerable phenotypic overlap and should be considered in patient with congenital hypotrichosis.
Weight Loss for Patients With Gout and Concomitant Obesity: A <scp>Proof‐of‐Concept</scp> Randomized Trial
Authors: Robin Christensen, Kristian Zobbe, Sabrina M. Nielsen, Lisa K. Stamp, Marius Henriksen, Anders F. Overgaard, Lene Dreyer, Filip K. Knop, Jasvinder A. Singh, Michael Doherty, Pascal Richette, Arne Astrup, Karen Ellegaard, Else M. Bartels, Mikael Boesen, Henrik Gudbergsen, Henning Bliddal, Lars Erik Kristensen
Journal: Arthritis & Rheumatology (2024)

Despite scarce evidence, guidelines recommend weight loss as a management strategy for patients with gout. We investigated the effect of an intensive dietary intervention on body weight and clinical measures of gout severity in individuals with obesity and gout. We conducted a 16-week randomized nonmasked parallel-group trial in Denmark, randomly assigning (one-to-one) individuals with obesity and gout to a low-energy diet or a control diet. The primary outcome was change in body weight. Key secondary outcomes were changes in serum urate (SU) level and visual analog scale-assessed pain and fatigue. Between December 1, 2018, and June 1, 2019, 61 participants were included in the intention-to-treat population and randomly assigned to the intensive diet group (n = 29) or control diet group (n = 32). Participants had a mean age of 60.3 (SD 9.9) years and mean body mass index of 35.6 (SD 5.0), and 59 (97%) were men. After 16 weeks, there was a significant difference in change in body weight between the diet and control groups (-15.4 vs -7.7 kg; difference -7.7 kg [95% confidence interval -10.7 to -4.7], P < 0.001). Despite results being potentially in favor of a low-energy diet, we could not confirm differences in SU level changes and fatigue between groups. No differences in pain and gout flares were observed between groups. No serious adverse events or deaths occurred during the trial. An intensive dietary intervention was safe and effectively lowered body weight in people with obesity and gout, but the weight loss did not directly translate into effects on SU level, fatigue, and pain.
A tough, antibacterial and antioxidant hydrogel dressing accelerates wound healing and suppresses hypertrophic scar formation in infected wounds
Authors: Xiaoqing Liu, Yiming Sun, Jie Wang, Yongyuan Kang, Zhaolong Wang, Wangbei Cao, Juan Ye, Changyou Gao
Journal: Bioactive Materials (2024)

Wound management is an important issue that places enormous pressure on the physical and mental health of patients, especially in cases of infection, where the increased inflammatory response could lead to severe hypertrophic scars (HSs). In this study, a hydrogel dressing was developed by combining the high strength and toughness, swelling resistance, antibacterial and antioxidant capabilities. The hydrogel matrix was composed of a double network of polyvinyl alcohol (PVA) and agarose with excellent mechanical properties. Hyperbranched polylysine (HBPL), a highly effective antibacterial cationic polymer, and tannic acid (TA), a strong antioxidant molecule, were added to the hydrogel as functional components. Examination of antibacterial and antioxidant properties of the hydrogel confirmed the full play of the efficacy of HBPL and TA. In the in vivo studies of methicillin-resistant Staphylococcus aureus (MRSA) infection, the hydrogel had shown obvious promotion of wound healing, and more profoundly, significant suppression of scar formation. Due to the common raw materials and simple preparation methods, this hydrogel can be mass produced and used for accelerating wound healing while preventing HSs in infected wounds.
Forty Years of Inferential Methods in the Journals of the Society for Molecular Biology and Evolution
Authors: Claudia A M Russo, Adam Eyre-Walker, Laura A Katz, Brandon S Gaut
Journal: Molecular Biology and Evolution (2024)

Abstract We are launching a series to celebrate the 40th anniversary of the first issue of Molecular Biology and Evolution. In 2024, we will publish virtual issues containing selected papers published in the Society for Molecular Biology and Evolution journals, Molecular Biology and Evolution and Genome Biology and Evolution. Each virtual issue will be accompanied by a perspective that highlights the historic and contemporary contributions of our journals to a specific topic in molecular evolution. This perspective, the first in the series, presents an account of the broad array of methods that have been published in the Society for Molecular Biology and Evolution journals, including methods to infer phylogenies, to test hypotheses in a phylogenetic framework, and to infer population genetic processes. We also mention many of the software implementations that make methods tractable for empiricists. In short, the Society for Molecular Biology and Evolution community has much to celebrate after four decades of publishing high-quality science including numerous important inferential methods.
Bariatric surgery, through beneficial effects on underlying mechanisms, improves cardiorenal and liver metabolic risk over an average of ten years of observation: A longitudinal and a case-control study
Authors: Alexander Kokkinos, Dimitrios Tsilingiris, Stamatia Simati, Konstantinos Stefanakis, Angeliki M. Angelidi, Nikolaos Tentolouris, Ioanna A. Anastasiou, Margery A. Connelly, Andreas Alexandrou, Christos S. Mantzoros
Journal: Metabolism (2024)
Risk of Endophthalmitis Based on Cumulative Number of Anti-VEGF Intravitreal Injections
Authors: Rachel N. Israilevich, Hana Mansour, Samir N. Patel, Sunir J. Garg, Michael A. Klufas, Yoshihiro Yonekawa, Carl D. Regillo, Jason Hsu
Journal: Ophthalmology (2024)
The Decade of Healthy Ageing: progress and challenges ahead
Authors: None The Lancet Healthy Longevity
Journal: The Lancet Healthy Longevity (2024)

The start of a new year and accompanying resolutions often revolve around a renewed motivation to adopt healthier lifestyles. However, these changes to lifestyle can only contribute to healthy ageing if supportive environments, policies, systems, and services are in place. The UN declared 2021–30 as the Decade of Healthy Ageing with an aim to improve the health and wellbeing of older people. The release of the first progress report sheds light on the extent to which Member States, with 136 of 194 submitting data although the precise number varied across indicators, have successfully adopted the various action points.
Effects of Cooking with Liquefied Petroleum Gas or Biomass on Stunting in Infants
Authors: William Checkley, Lisa M Thompson, Sheela S Sinharoy, Shakir Hossen, Lawrence H Moulton, Howard H Chang, Lance Waller, Kyle Steenland, Ghislaine Rosa, Alexie Mukeshimana, Florien Ndagijimana, John P McCracken, Anaité Díaz-Artiga, Kalpana Balakrishnan, Sarada S Garg, Gurusamy Thangavel, Vigneswari Aravindalochanan, Stella M Hartinger, Marilú Chiang, Miles A Kirby, Aris T Papageorghiou, Usha Ramakrishnan, Kendra N Williams, Laura Nicolaou, Michael Johnson, Ajay Pillarisetti, Joshua Rosenthal, Lindsay J Underhill, Jiantong Wang, Shirin Jabbarzadeh, Yunyun Chen, Victor G Dávila-Román, Luke P Naeher, Eric D McCollum, Jennifer L Peel, Thomas F Clasen
Journal: New England Journal of Medicine (2024)

Household air pollution is associated with stunted growth in infants. Whether the replacement of biomass fuel (e.g., wood, dung, or agricultural crop waste) with liquefied petroleum gas (LPG) for cooking can reduce the risk of stunting is unknown.
Liquefied Petroleum Gas or Biomass Cooking and Severe Infant Pneumonia
Authors: Eric D McCollum, John P McCracken, Miles A Kirby, Laura M Grajeda, Shakir Hossen, Lawrence H Moulton, Suzanne M Simkovich, Dina Goodman-Palmer, Ghislaine Rosa, Alexie Mukeshimana, Kalpana Balakrishnan, Gurusamy Thangavel, Sarada S Garg, Adly Castañaza, Lisa M Thompson, Anaite Diaz-Artiga, Aris T Papageorghiou, Victor G Davila-Roman, Lindsay J Underhill, Stella M Hartinger, Kendra N Williams, Laura Nicolaou, Howard H Chang, Amy E Lovvorn, Joshua P Rosenthal, Ajay Pillarisetti, Wenlu Ye, Luke P Naeher, Michael A Johnson, Lance A Waller, Shirin Jabbarzadeh, Jiantong Wang, Yunyun Chen, Kyle Steenland, Thomas F Clasen, Jennifer L Peel, William Checkley
Journal: New England Journal of Medicine (2024)

Exposure to household air pollution is a risk factor for severe pneumonia. The effect of replacing biomass cookstoves with liquefied petroleum gas (LPG) cookstoves on the incidence of severe infant pneumonia is uncertain. We conducted a randomized, controlled trial involving pregnant women 18 to 34 years of age and between 9 to less than 20 weeks' gestation in India, Guatemala, Peru, and Rwanda from May 2018 through September 2021. The women were assigned to cook with unvented LPG stoves and fuel (intervention group) or to continue cooking with biomass fuel (control group). In each trial group, we monitored adherence to the use of the assigned cookstove and measured 24-hour personal exposure to fine particulate matter (particles with an aerodynamic diameter of ≤2.5 μm [PM2.5]) in the women and their offspring. The trial had four primary outcomes; the primary outcome for which data are presented in the current report was severe pneumonia in the first year of life, as identified through facility surveillance or on verbal autopsy. Among 3200 pregnant women who had undergone randomization, 3195 remained eligible and gave birth to 3061 infants (1536 in the intervention group and 1525 in the control group). High uptake of the intervention led to a reduction in personal exposure to PM2.5 among the children, with a median exposure of 24.2 μg per cubic meter (interquartile range, 17.8 to 36.4) in the intervention group and 66.0 μg per cubic meter (interquartile range, 35.2 to 132.0) in the control group. A total of 175 episodes of severe pneumonia were identified during the first year of life, with an incidence of 5.67 cases per 100 child-years (95% confidence interval [CI], 4.55 to 7.07) in the intervention group and 6.06 cases per 100 child-years (95% CI, 4.81 to 7.62) in the control group (incidence rate ratio, 0.96; 98.75% CI, 0.64 to 1.44; P = 0.81). No severe adverse events were reported to be associated with the intervention, as determined by the trial investigators. The incidence of severe pneumonia among infants did not differ significantly between those whose mothers were assigned to cook with LPG stoves and fuel and those whose mothers were assigned to continue cooking with biomass stoves. (Funded by the National Institutes of Health and the Bill and Melinda Gates Foundation; HAPIN ClinicalTrials.gov number, NCT02944682.).
Coming of Age for Device Therapy in Peripheral Artery Disease
Authors: Joshua A Beckman
Journal: New England Journal of Medicine (2024)

Peripheral artery disease affects approximately 10 million people in the United States and more than 230 million people globally.1 Atherosclerotic occlusive disease involving the leg reduces ambulatory function. When symptoms become severe, the clinical manifestation is termed chronic limb-threatening ischemia (CLTI) and is characterized by limb pain at rest, nonhealing skin ulcers, or gangrene. Large randomized, controlled clinical trials have shown that 10 to 20% of patients with CLTI undergo amputation during the 2.5 to 3 years after treatment.2,3 These results reflect care provided at expert centers, which suggests that outcomes may be even worse for most patients.4 The tools . . .
Intense FDG Uptake in Leiomyomatosis Peritonealis Disseminata With Fumarate Hydratase Deficiency
Authors: Yang Wang, Aisheng Dong, Meiling Cai
Journal: Clinical Nuclear Medicine (2023)

Abstract A 35-year-old woman with a history of laparoscopic myomectomy presented with repeated abdominal pain. Contrast-enhanced abdominal and pelvic CT showed multiple enhancing solid or mixed cystic and solid peritoneal masses, and an enhancing uterine mass. All these masses showed intense FDG uptake on FDG PET/CT. The intraperitoneal and uterine masses were surgically removed. The histological and immunohistochemical findings of the peritoneal lesions were consistent with leiomyomatosis peritonealis disseminata with fumarate hydratase deficiency, and the uterine mass was adenomyosis. This case indicates fumarate hydratase-deficient extrauterine leiomyoma can show intense FDG uptake mimicking malignancy.
Re: Edward Lambert, Emmanuel Chartier-Kastler, Christophe Vaessen, et al. Robot-assisted Periprostatic Artificial Urinary Sphincter Implantation in Men with Neurogenic Stress Urinary Incontinence: Description of the Surgical Technique and Comparison of Long-term Functional Outcomes with the Open Approach. Eur Urol. 2024;85:139–45
Authors: Carmen Gravina, Matteo Romagnoli, Antonio Nacchia, Riccardo Lombardo, Giorgio Franco, Alessandro Giammò, Cosimo De Nunzio
Journal: European Urology (2024)
Corrigendum to “Effect of Peritoneal Fixation (PerFix) on Lymphocele Formation in Robot-assisted Radical Prostatectomy with Pelvic Lymphadenectomy: Results of a Randomized Prospective Trial” [Eur. Urol. 83(2) (2023) 154–162]
Authors: Vladimir Student, Zbynek Tudos, Zuzana Studentova, Ondrej Cesak, Hana Studentova, Vaclav Repa, Dana Purova, Vladimir Student
Journal: European Urology (2024)
Gender and Race Differences in HeartMate3 Left Ventricular Assist Device as a Bridge to Transplantation
Authors: Rebecca S. Steinberg, Alexis K. Okoh, Jeffrey Wang, Krishan J. Patel, Apoorva Gangavelli, Aditi Nayak, Yi-An Ko, Divya Gupta, Mani Daneshmand, J. David Vega, Alanna A. Morris
Journal: JACC Heart Failure (2024)
The Curious Case of the Missing Limb on FDG PET Imaging
Authors: Wan Jiun Tay, Daniel Jing Wen Teh, Yan Qin, Winnie Wing-Chuen Lam
Journal: Clinical Nuclear Medicine (2023)

Abstract A 58-year-old woman with poorly controlled diabetes, peripheral vascular disease, and end-stage renal disease requiring hemodialysis was referred for 18 F-FDG PET/CT to evaluate for source of sepsis. She had history of prior left forefoot and right second toe amputation, as well as left lower-limb dry gangrene for which she declined surgical management. We present a case of a nonamputated lower limb demonstrating regions of absolute photopenia, consistent with dry gangrene.