Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. by Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa

“…<h4>Background and aim</h4>Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis.…”
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Urethral Caruncle Presented as Premature Menarche in a 4-Year-Old Girl by Manori Gamage, D. Beneragama

“…It was first described by Samuel Sharp in 1750 and occurs mainly at the posterior lip of the urethra, and the exact aetiology is still uncertain. More often it was seen in the postmenopausal women, and only few cases are reported in young girls. …”
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Perforated Jejunal Diverticula Secondary to a Large Faecolith: A Rare Cause of the Acute Abdomen by Peter John Webster, Abigail Hyland, Amarvir Bilkhu, Satheesh Hanavadi, Narinder Sharma

“…This report describes our experience of a case of jejunal diverticula perforation secondary to a large faecolith, with particular focus on the aetiology and management of this rare condition.…”
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Mitochondrial Stress Signaling Promotes Cellular Adaptations by Jayne Alexandra Barbour, Nigel Turner

“…Mitochondrial dysfunction has been implicated in the aetiology of many complex diseases, as well as the ageing process. …”
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Sarcoidosis Presenting as Massive Splenic Infarction by Ishita Patel, Mediola Ismajli, Alan Steuer

“…Sarcoidosis is a multisystem granulomatous disease of unknown aetiology. Granulomatous inflammation involving the spleen is common and associated with splenomegaly. …”
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Consensus Meeting of European Society of Neurogastroenterology and Motility on Functional Dyspepsia (2020): Have We Dotted All the I’s? by A. A. Sheptulin, O. A. Storonova, D. E. Rumyantseva

“…Expert votes at the consensus meeting generally confirmed the main statements of the Rome Criteria Revision IV on the definition of functional dyspepsia, its aetiology and pathogenesis, diagnosis and treatment, as well as those of the Kyoto Consensus covering the possible association of dyspeptic complaints with H. pylori infection. …”
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CMR in Heart Failure by Daniel M. Sado, Jonathan M. Hasleton, Anna S. Herrey, James C. Moon

“…Cardiovascular magnetic resonance (CMR) is a medical imaging technique with significant advantages, allowing the understanding of aetiology and pathophysiology of HF in the individual patient, permitting specific therapy to be administered and predicting prognosis. …”
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Clinical Practice Guidelines for Coma Management by Julio Alonso Cortizo Hernández, Maribel Misas Menéndez, Zenia Lisset Hernández Millán, Diosdania Alfonso Falcón, Tania Pérez Ramos

“…This document includes a review and update of the main clinical aspects, concepts, aetiology and therapy for this condition. It includes assessment guidelines focused on the most important aspects to be accomplished.…”
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Psychogenic Polydipsia: The Result, or Cause of, Deteriorating Psychotic Symptoms? A Case Report of the Consequences of Water Intoxication by Melissa Gill, MacDara McCauley

“…Differential diagnoses for hyponatraemia are outlined. The aetiology of psychogenic polydipsia is uncertain, but postulated hypotheses are explored. …”
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Sterile Endophthalmitis after Intravitreal Injections by Joaquín Marticorena, Vito Romano, Francisco Gómez-Ulla

“…Sterile endophthalmitis appears as an infrequent complication of intravitreal injections and seems to develop mainly in the context of the off-label use of drugs that have not been conceived for intravitreous administration. The aetiology of sterile endophthalmitis, independently of the administered drug, remains uncertain and a multifactorial origin cannot be discarded. …”
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Leprosy Mimicking Common Rheumatologic Entities: A Trial for the Clinician in the Era of Biologics by Deepak Rath, Shrinath Bhargava, Bijit Kumar Kundu

“…However, when an entity of infective aetiology like leprosy known to be a great mimic of different autoimmune conditions presents with features similar to these, the possibility of it being diagnosed at the outset is very slim indeed. …”
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A Case of Recurrent Erysipelas Caused by Streptococcus mitis Group by David Nygren, Bo Nilson, Magnus Rasmussen

“…The aetiology of erysipelas remains poorly defined though beta-haemolytic streptococci are considered as the main causative pathogens. …”
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Pendred syndrome: Advances in diagnostics and unresolved therapeutic challenges by Olga Domańska, Kinga Brzdęk, Michał Brzdęk, Szymon Wiśniewski, Wiktor Baran

“…Pendred syndrome remains a condition characterised by numerous complexities and unresolved aspects despite significant advancements in understanding its aetiology and clinical manifestations. The aim of the study was to summarise the latest reports on this autosomal recessive disorder. …”
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Unilateral superior vena cava syndrome: An uncommon complication of a commonly used procedure by N Goolam, M Bester, D Schietekat

“… Superior vena cava (SVC) syndrome constellates symptoms of plethora and facial and upper thoracic swelling with distension of neck veins, and the consequences of this condition range from mild discomfort to upper airway obstruction. The aetiology has a strong linkage with malignancy, and is always to be excluded. …”
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Extensive Epidermal Skin Loss Secondary to HSV Type One: Neonatal Management Challenges by Rebecca J Calthorpe, Emma Spencer, Jane C Ravenscroft, Ting S Tang, Anna E Martinez, Anjum Deorukhkar

“…We describe the management challenges and give practical solutions applicable to the care of a neonate presenting with widespread skin loss due to any aetiology.…”
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Scoping review of molecular biomarkers associated with fatigue, stress, and depression in stroke survivors: A protocol. by Tarynn Potter, Nisal Gange, Eliza Whiteside, Prajwal Gyawali

“…The prevalence of stroke increases each year and while mortality from stroke has decreased, the prevalence of comorbidities such as anxiety, depression and fatigue affects as many as 75% of stroke survivors. The aetiology of post-stroke fatigue is not clear, although it has been shown to be interrelated with comorbidities such as stress and depression. …”
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Yellow Nail Syndrome with Bilateral Pleural Plaques and Diffuse Pleural Thickening: A Mimic of Asbestos Related Disease by Adam Dallmann, Richard L. Attanoos

“…Yellow nail syndrome is a rare acquired condition of unknown aetiology associated with distinct nail discolouration/xanthonychia, pulmonary manifestations, and lymphoedema. …”
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A Rare Colocalization of Lichen Planus and Vitiligo by David Veitch, Georgios Kravvas, Sian Hughes, Christopher Bunker

“…After reviewing the literature, we believe that at present there is insufficient evidence to resolve the uncertainties in the aetiology of this colocalization. It seems to us that the association between LP and vitiligo is more than coincidental, but none of the theories discussed in this paper can sufficiently account for it. …”
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Atypical Presentation of Kimura’s Disease in a Male Patient: A Case Report and Review of Literature by Zahra A. Natsha, Islam A. Hamarsheh, Rawan S. Utt, Bassam Abu Alrob, Adnan A. Wahdan

“…Kimura’s disease (KD) is a rare chronic inflammatory condition of unknown aetiology. It is a benign disease that might mimic a neoplastic process. …”
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CMR Features in Cardiac Sarcoidosis by Sparsh Prasher, Phong T. Lee, Marc Dweck, John R. Payne

“…Sarcoidosis is a multisystemic disorder of unknown aetiology characterised by the formation of noncaseating epithelioid cell granuloma involving various organ systems. …”
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