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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank kirollos yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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Late ischemic stroke and brachiocephalic thrombus in a 65-year-old patient six months after COVID-19 infection:A case report

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World Journal of Hematology 2022年第2期9卷 13-19页

作者： Kristen Jane Kilby Catherine Anderson-Quiñones Keith Richard Pierce kirollos Gabrah Ankur Seth Allison Brunson Department of Pharmacy Baptist Memorial Hospital-MemphisMemphisTN 38120United States College of Medicine University of Tennessee Health Science CenterMemphisTN 38163United States College of Osteopathic Medicine New York Institute of TechnologyJonesboroAR 72401United States

BACKGROUND Although it is well established that coronavirus disease 2019(COVID-19)is associated with inflammation and a prothrombotic state leading to stroke and venous thromboembolism(VTE),the nuances of this association are yet to be uncovered[1].Many studies link elevations in inflammatory markers to cases of *** reports of thromboembolism associated with COVID-19 occur in the venous circulation during or just after the initial hospitalization due to COVID-19[2].It is unclear how long the hypercoagulable effect of COVID-19 *** SUMMARY We present a unique case of a 65-year-old-female who presented to her primary care doctor with a sore throat,cough,fatigue,congestion,diarrhea,headache,and *** tested positive for severe acute respiratory syndrome coronavirus 2 and received a bamlanivimab infusion 9 days *** recovering from the acute illness,she received the Pfizer-BioNTech COVID-19 *** later,she presented to the Emergency Department(ED)complaining of right sided shoulder pain and motor weakness in her left hand while trying to type on a *** presentation to the ED,her calculated Padua prediction score for risk of VTE was two and inflammatory markers were not *** was found to have a brachiocephalic artery occlusion as well as an ischemic stroke which was treated with *** This case suggests hypercoagulability due to COVID-19 may extend further than current literature suggests,to at least six months.

关键词： COVID-19 Stroke SARS-CoV-2 Thrombus Vaccine Case report

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