Results 31 to 40 of about 185,266 (254)

Mutation in FBXO32 causes dilated cardiomyopathy through up-regulation of ER-stress mediated apoptosis

Communications Biology, 2021
Al-Yacoub et al. investigate the consequences of FBXO32 mutation on dilated cardiomyopathy. ER stress, abnormal CHOP activation and CHOP-induced apoptosis with no UPR effector activation are found to underlie the FBXO32 mutation induced cardiomyopathy ...
Nadya Al-Yacoub, Dilek Colak, Salma Awad Mahmoud, Maya Hammonds, Kunhi Muhammed, Olfat Al-Harazi, Abdullah M. Assiri, Jehad Al-Buraiki, Waleed Al-Habeeb, Coralie Poizat   +9 more
doaj   +1 more source

COVID-19-Related Acute Respiratory Distress Syndrome in a Pregnant Woman Supported on ECMO: The Juxtaposition of Bleeding in a Hypercoagulable State

Membranes, 2021
A 40-year-old pregnant woman at 28 weeks of gestation was diagnosed with severe acute respiratory failure syndrome (ARDS) due to coronavirus disease 2019 (COVID-19).
Mohsen Khalil, Abid Butt, Eiad Kseibi, Eyad Althenayan, Manal Alhazza, Hend Sallam   +5 more
doaj   +1 more source

The interstitial lung disease patient pathway: from referral to diagnosis

ERJ Open Research
Background Suspected interstitial lung disease (ILD) patients may be referred to an ILD-specialist centre or a non-ILD-specialist centre for diagnosis and treatment.
Graham Lough, Rayid Abdulqawi, Gina Amanda, Katerina Antoniou, Arata Azuma, Milind Baldi, Ahmed Bayoumy, Jürgen Behr, Elisabeth Bendstrup, Demosthenes Bouros, Kevin Brown, Nazia Chaudhuri, Tamera J. Corte, Vincent Cottin, Bruno Crestani, Kevin R. Flaherty, Ian Glaspole, Leticia Kawano-Dourado, Michael P. Keane, Martin Kolb, Fernando J. Martinez, Maria Molina-Molina, Iñigo Ojanguren, Laurence Pearmain, Ganesh Raghu, Paola Rottoli, Stefan C. Stanel, Gabriela Tabaj, Carlo Vancheri, Brenda Varela, Bonnie Wang, Athol Wells, Pilar Rivera-Ortega   +32 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Expression profiling of WD40 family genes including DDB1- and CUL4- associated factor (DCAF) genes in mice and human suggests important regulatory roles in testicular development and spermatogenesis

BMC Genomics, 2020
Background The WD40-repeat containing proteins, including DDB1–CUL4-associated factors (DCAFs), are abundant and conserved proteins that play important roles in different cellular processes including spermatogenesis.
Bhavesh V. Mistry, Maha Alanazi, Hanae Fitwi, Olfat Al-Harazi, Mohamed Rajab, Abdullah Altorbag, Falah Almohanna, Dilek Colak, Abdullah M. Assiri   +8 more
doaj   +1 more source

Intraparotid Recurrence of Papillary Thyroid Carcinoma After Thyroidectomy Coincident With Declining Thyroglobulin Levels: A Case Report and Review of the Literature

Ear, Nose & Throat Journal, 2023
Papillary thyroid carcinoma (PTC) is the most frequent thyroid malignancy. Intraparotid recurrence of PTC is, however, rare. Most parotid malignancies are either primary or metastatic from cancer outside the head and neck.
Azmi Marouf MBBS, John C. Heaphy MD, Abdullah Mohammed Sindi MBBS, Ahlam Hadi Alamri MBBS, Firas R. Abi Sheffah MD, ABORL, Ahmed Noorsaeed MD, DABP, MIAC, Anas H. Al-Tammas MD, ABORL, Bilal Issa Rammal MD, EDiR   +7 more
doaj   +1 more source

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Disruption of male fertility-critical Dcaf17 dysregulates mouse testis transcriptome

Scientific Reports, 2022
During mammalian spermatogenesis, the ubiquitin proteasome system maintains protein homoeostasis (proteastasis) and spermatogenic cellular functions.
Raed Abu-Dawud, Bhavesh V. Mistry, Mohamed Rajab, Maha Alanazi, Nadya Al-Yacoub, Junaid Kashir, Falah Almohanna, Dilek Colak, Abdullah M. Assiri   +8 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Evidence‐Informed Multidisciplinary Consensus Guidance for the Psychosocial Care of Adolescents With High‐Risk Cancer: Recommendations From the Italian Association of Pediatric Hematology and Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adolescents with high‐risk cancer face complex developmental, psychosocial, and ethical challenges that extend beyond disease‐directed treatment. Although international recommendations exist for communication, psychosocial care, pediatric palliative care, survivorship, and shared decision‐making, these have largely evolved within ...
Johanna M. C. Blom, Dorella Scarponi, Giulia Zucchetti, Teresa Perillo, Maria Montanaro, Elisa Marconi, Chiara Rutigliano, Paolo Colavero, Paola Quarello, Marina Bertolotti, Monica Cellini, Carlo Clerici, Maurizio Mascarin, Francesca Bomben, Andrea Ferrari, the expert workgroup   +15 more
wiley   +1 more source