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JOURNAL ARTICLE
Khalil El Gharib, Mangala Narasimhan
COVID-19 is still around, and in the most severe cases can rapidly progress to acute respiratory distress syndrome. When mechanical ventilation fails to improve oxygenation, we desperately shift our management to venovenous extracorporeal membrane oxygenation (vv-ECMO). In this opinion article, we discuss which patients are the most suitable to select for this technique, reiterate previous observations in acute respiratory distress syndrome, and the options for the patients judged not fitting for ECMO.
July 2023: Clinical Medicine: Journal of the Royal College of Physicians of London
#42
Jia-Jyun Jhang, Szu-Ju Chen, Chi-Ping Huang, Huey-Yi Chen, Wei-Ching Lin, Yung-Hsiang Chen, Wen-Chi Chen
We present a case of a 28-year-old male patient with a spontaneous intratesticular hematoma. He had no history of trauma but experienced sudden onset of painful swelling in his right testis. Initially, testicular malignancy was suspected. The tumor marker of testis, including alfa-fetoprotein, lactic dehydrogenase, and β-human chorionic gonadotropin, was within normal range. The patient had been diagnosed with Reiter's syndrome at the age of 20 and had been treated with sulfasalazine, non-steroidal anti-inflammatory drugs, and acetaminophen for eight years...
June 7, 2023: Diagnostics
#43
JOURNAL ARTICLE
Mattias Mandorfer, Elmar Aigner, Manfred Cejna, Arnulf Ferlitsch, Christian Datz, Tilmann Gräter, Ivo Graziadei, Michael Gschwantler, Stephanie Hametner-Schreil, Harald Hofer, Mathias Jachs, Alexander Loizides, Andreas Maieron, Markus Peck-Radosavljevic, Florian Rainer, Bernhard Scheiner, Georg Semmler, Lukas Reider, Silvia Reiter, Maria Schoder, Rainer Schöfl, Philipp Schwabl, Vanessa Stadlbauer, Rudolf Stauber, Elisabeth Tatscher, Michael Trauner, Alexander Ziachehabi, Heinz Zoller, Peter Fickert, Thomas Reiberger
The Billroth IV consensus was developed during a consensus meeting of the Austrian Society of Gastroenterology and Hepatology (ÖGGH) and the Austrian Society of Interventional Radiology (ÖGIR) held on the 26th of November 2022 in Vienna.Based on international recommendations and considering recent landmark studies, the Billroth IV consensus provides guidance regarding the diagnosis and management of portal hypertension in advanced chronic liver disease.
September 2023: Wiener Klinische Wochenschrift
#44
Adrian M Alonso, Eric J Basile, Addie Walker, Basil Patel
Herpes simplex virus type II (HSV-II) with superimposed bacterial skin infection is an uncommon presentation of cutaneous necrosis in the setting of infective endocarditis. This case reflects a unique presentation of an immunosuppressed patient with infective endocarditis complicated by septic emboli and cutaneous skin lesions attributable to HSV-II and superimposed bacterial skin infection. The patient presented from an outside hospital with symptoms consistent with acute onset heart failure and skin lesions...
May 2023: Curēus
#45
REVIEW
Sa A Wang, Attilio Orazi, Jason Gotlib, Andreas Reiter, Alexandar Tzankov, Robert P Hasserjian, Daniel A Arber, Ayalew Tefferi
Based on new data and increased understanding of disease molecular genetics, the international consensus classification (ICC) has made several changes in the diagnosis and classification of eosinophilic disorders and systemic mastocytosis. Myeloid/lymphoid neoplasms with eosinophilia (M/LN-eo) and gene rearrangements have been renamed as M/LN-eo with tyrosine kinase gene fusions (M/LN-eo-TK). The category has been expanded to include ETV6::ABL1 and FLT3 fusions, and to accept PCM1::JAK2 and its genetic variants as formal members...
August 2023: American Journal of Hematology
#46
JOURNAL ARTICLE
A Kaitlyn Victor, Tayler Hedgecock, Martin Donaldson, Daniel Johnson, Casey M Rand, Debra E Weese-Mayer, Lawrence T Reiter
BACKGROUND: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is an ultra-rare neurocristopathy with no known genetic or environmental etiology. Rapid-onset obesity over a 3-12 month period with onset between ages 1.5-7 years of age is followed by an unfolding constellation of symptoms including severe hypoventilation that can lead to cardiorespiratory arrest in previously healthy children if not identified early and intervention provided...
2023: Frontiers in Pediatrics
#47
REVIEW
Werner Mohl, Zlata Kiseleva, Alem Jusic, Matthäus Bruckner, Robert M Mader
BACKGROUND: Inducing recovery in myocardial ischemia is limited to a timely reopening of infarct vessels and clearing the cardiac microcirculation, but additional molecular factors may impact recovery. OBJECTIVE: In this scoping review, we identify the paradigm shifts decoding the branching points of experimental and clinical evidence of pressure-controlled intermittent coronary sinus occlusion (PICSO), focusing on myocardial salvage and molecular implications on infarct healing and repair...
2023: Frontiers in Cardiovascular Medicine
#48
JOURNAL ARTICLE
Mario Detomas, Katrin Ritzel, Isabella Nasi-Kordhishti, Marie Helene Schernthaner-Reiter, Marco Losa, Viola Tröger, Barbara Altieri, Matthias Kroiss, Ralph Kickuth, Martin Fassnacht, Alexander Micko, Jürgen Honegger, Martin Reincke, Timo Deutschbein
OBJECTIVE: Bilateral inferior petrosal sinus sampling (BIPSS) is regarded as gold standard to differentiate between Cushing´s disease (CD) and ectopic Cushing's syndrome (ECS). However, published data e.g. on the diagnostic value of additional prolactin analysis is controversial. Thus, we evaluated the diagnostic performance of BIPSS with and without prolactin in a multicenter study. DESIGN AND METHODS: Retrospective study in 5 European reference centers. Patients with overt adrenocorticotropin (ACTH)-dependent Cushing's syndrome at the time of BIPSS with human corticotropin-releasing hormone stimulation were eligible...
May 18, 2023: European Journal of Endocrinology
#49
REVIEW
Coad Thomas Dow, Nancy W Lin, Edward D Chan
Clinical and histological similarities between sarcoidosis and tuberculosis have driven repeated investigations looking for a mycobacterial cause of sarcoidosis. Over 50 years ago, "anonymous mycobacteria" were suggested to have a role in the etiology of sarcoidosis. Both tuberculosis and sarcoidosis have a predilection for lung involvement, though each can be found in any area of the body. A key histopathologic feature of both sarcoidosis and tuberculosis is the granuloma-while the tuberculous caseating granuloma has an area of caseous necrosis with a cheesy consistency; the non-caseating granuloma of sarcoidosis does not have this feature...
March 24, 2023: Microorganisms
#50
RANDOMIZED CONTROLLED TRIAL
Christian Buske, Jorge J Castillo, Jithma Prasad Abeykoon, Ranjana Advani, Suzanne O Arulogun, Andrew R Branagan, Xinxin Cao, Shirley D'Sa, Jian Hou, Prashant Kapoor, Efstathios Kastritis, Marie J Kersten, Veronique LeBlond, Merav Leiba, Jeffrey V Matous, Jonas Paludo, Lugui Qiu, Constantine S Tam, Alessandra Tedeschi, Sheeba K Thomas, Ibrahim Tohidi-Esfahani, Marzia Varettoni, Josephine M Vos, Ramon Garcia-Sanz, Jesus San-Miguel, Meletios A Dimopoulos, Steven P Treon, Judith Trotman
Consensus Panel 1 (CP1) of the 11th International Workshop on Waldenstrom's Macroglobulinemia (IWWM-11) was tasked with updating guidelines for the management of symptomatic, treatment-naïve patients with WM. The panel reiterated that watchful waiting remains the gold standard for asymptomatic patients without critically elevated IgM or compromised hematopoietic function. For first-line treatment, chemoimmunotherapy (CIT) regimens such as dexamethasone, cyclophosphamide, rituximab (DRC), or bendamustine, rituximab (Benda-R) continue to play a central role in managing WM, as they are effective, of fixed duration, generally well-tolerated, and affordable...
March 2023: Seminars in Hematology
#51
REVIEW
Antonella Pizza, Esther Picillo, Maria Elena Onore, Marianna Scutifero, Luigia Passamano, Vincenzo Nigro, Luisa Politano
The contiguous gene deletion syndromes (CGDS) are rare genomic disorders resulting from the deletion of large segments of DNA, manifested as the concurrence of apparently unrelated clinical features. A typical example of CGDS is Xp21 contiguous gene deletion syndrome that involves GK and its neigh-boring genes (usually DMD and NR0B1 ) and results in a complex phenotype, which is related to the size of deletion and involved genes. Development delay and intellectual disability are almost a constant feature of patients with CGDS...
2023: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
#52
David Petrosian, Paloma Reiter, Suzanne Sirota Rozenberg, Sergey Petrosian
No abstract text is available yet for this article.
April 2023: JAAD Case Reports
#53
JOURNAL ARTICLE
Melanie Deist, Sharain Suliman, Martin Kidd, Donald Franklin, Mariana Cherner, Robert K Heaton, Georgina Spies, Soraya Seedat
Reliable and valid neurocognitive (NC) test batteries that assess multiple domains of cognitive functioning are vital tools in the early detection of HIV-associated NC impairment. The HIV Neurobehavioral Research Center's International Neurobehavioral Battery (HNRC Battery) is one such diagnostic tool and has shown cultural validity in several international neuroHIV studies. However, no published norms are currently available for the full HNRC Battery in South Africa. To accurately interpret NC test results, appropriate reference norms are required...
March 14, 2023: AIDS and Behavior
#54
Hajar Aown Allah Alsulami, Omar Al-Nashiwaty, Mahassen Aly Khalifa, Nazar Ulla Syed, Noha Ahmed, Souad Almuthree
Reiter syndrome is an autoimmune condition that develops in as a reactive response to GI or GU related infectious and rarely related to Intravesical BCG. it is a triad of conjunctivitis, urethritis, and arthritis. Here we report the case of a female patient who developed acute Reiter's syndrome following intravesical Bacillus Calmette-Guerin (BCG) immunotherapy for superficial bladder cancer. After the sixth dose in the maintenance phase of treatment the patient developed conjunctivitis, aseptic urethritis, and polyarthritis consistent with a diagnosis of Reiter's syndrome...
2023: IDCases
#55
JOURNAL ARTICLE
Luis O Romero, Rebeca Caires, A Kaitlyn Victor, Juanma Ramirez, Francisco J Sierra-Valdez, Patrick Walsh, Vincent Truong, Jungsoo Lee, Ugo Mayor, Lawrence T Reiter, Valeria Vásquez, Julio F Cordero-Morales
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability and atypical behaviors. AS results from loss of expression of the E3 ubiquitin-protein ligase UBE3A from the maternal allele in neurons. Individuals with AS display impaired coordination, poor balance, and gait ataxia. PIEZO2 is a mechanosensitive ion channel essential for coordination and balance. Here, we report that PIEZO2 activity is reduced in Ube3a deficient male and female mouse sensory neurons, a human Merkel cell carcinoma cell line and female human iPSC-derived sensory neurons with UBE3A knock-down, and de-identified stem cell-derived neurons from individuals with AS...
March 1, 2023: Nature Communications
#56
JOURNAL ARTICLE
Shaji Thomas John, Kizhanipurath Gayathri, Shabina Ahmed, Kawaljit Singh Multtani, Puthezhath Shankar Narayanan Menon, Raman Krishna Kumar, Vaikom Hariharan Sankar, Prajnya Ranganath, Neerja Gupta, Mohandas Nair, Madhava Vijayakumar, Jeeson C Unni
JUSTIFICATION: The diagnosis of Down syndrome (DS) is easily made clinically but the management is multi-disciplinary and life-long. There is no standard protocol available for its management in India. PROCESS: A committee was formed under the Indian Academy of Pediatrics (IAP) chapter of Neuro developmental pediatrics consisting of 20 experts working in the related field. The various aspects of the condition were discussed and allotted to the concerned experts related for preparing the guidelines...
February 21, 2023: Indian Pediatrics
#57
JOURNAL ARTICLE
Arash Yaghoobi, Javad Safdari Lord, Javad Soltani Rezaiezadeh, Mir Saeed Yekaninejad, Masoumeh Amini, Pantea Izadi
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) has been responsible for the recent pandemic since early 2020. Due to the wide range of clinical symptoms of this disease, from asymptomatic to severe and critical forms, it seems that genetic differences among patients, along with other factors (such as gender, age, and underlying diseases), can explain part of the variation in disease symptoms. The TMPRSS2 enzyme plays a vital role in the early stages of the interaction of the SARS-CoV-2 with the host cells by facilitating viral entry...
2023: PloS One
#58
JOURNAL ARTICLE
Martin A Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Henrike L Sczakiel, Alisa M V Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H Y Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M Kalscheuer, Anita Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg D Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, René Buschow, Xavier Salvatella, Matthew L Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur within intrinsically disordered protein regions that have poorly defined functions1-3 . Intrinsically disordered regions can mediate phase separation and the formation of biomolecular condensates, such as the nucleolus4,5 . This suggests that mutations in disordered proteins may alter condensate properties and function6-8 . Here we show that a subset of disease-associated variants in disordered regions alter phase separation, cause mispartitioning into the nucleolus and disrupt nucleolar function...
February 8, 2023: Nature
#59
EDITORIAL
Lawrence T Reiter
Experiments on mice suggest that an approach called antisense oligonucleotide therapy may be able to treat some symptoms of Angelman syndrome, including problems with epilepsy and sleep.
February 7, 2023: ELife
#60
João Alves, Andrea Salgueiro, João Pedro Baptista, Paulo Martins
We present a case of severe pneumonia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in a 63-year-old woman needing venous oxygenation by an extracorporeal membrane. Given the difficult clinical resolution with persistent inflammatory parameters, treatment with corticosteroids (methylprednisolone) was prescribed. The clinical evolution observed, namely the improvement of respiratory and imaging parameters, reiterates the recommendations of corticosteroids for moderate to severe disease...
December 2022: Curēus
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