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Bioessays 2022 Jun 25:e2200057. Epub 2022 Jun 25.

Helicases and Genomic Integrity Section, Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, Maryland, USA.

Hereditary breast and ovarian cancers are frequently attributed to germline mutations in the tumor suppressor genes BRCA1 and BRCA2. BRCA1/2 act to repair double-strand breaks (DSBs) and suppress the demise of unstable replication forks. Our work elucidated a dynamic interplay between BRCA2 and the WRN DNA helicase/exonuclease defective in the premature aging disorder Werner syndrome. Read More

Int J Mol Sci 2022 Jun 20;23(12). Epub 2022 Jun 20.

Experimental and Clinical Research Center, a Joint Cooperation of the Charité-University Medicine Berlin and Max Delbrück Center for Molecular Medicine in the Helmholtz Association, 13125 Berlin, Germany.

Metabolic syndrome is a significant worldwide public health challenge and is inextricably linked to adverse renal and cardiovascular outcomes. The inhibition of the transient receptor potential cation channel subfamily C member 6 (TRPC6) has been found to ameliorate renal outcomes in the unilateral ureteral obstruction (UUO) of accelerated renal fibrosis. Therefore, the pharmacological inhibition of TPRC6 could be a promising therapeutic intervention in the progressive tubulo-interstitial fibrosis in hypertension and metabolic syndrome. Read More

J Nucl Med 2022 Jun 23. Epub 2022 Jun 23.

Department of Nuclear Medicine, University Hospital Würzburg, Germany.

C-X-C motif chemokine receptor 4 (CXCR4)-targeted radioligand therapy (RLT) has already been applied to advanced blood cancers, such as multiple myeloma or diffuse large B-cell lymphoma. We herein present a series of patients with advanced T-cell lymphoma (TCL), who were scheduled for CXCR4-directed therapy as conditioning regimen, followed by hematopoietic stem cell transplantation (HSCT). Four patients with advanced, heavily pretreated and relapsed TCL (2 males, 2 females; median age, 50 years) without suitable alternative therapeutic options underwent CXCR4-directed PET and pretherapeutic dosimetry. Read More

Free Radic Biol Med 2022 Jun 16. Epub 2022 Jun 16.

Department of Pediatrics, Amalia Children's Hospital, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud Center for Mitochondrial Medicine (RCMM), Radboud University Medical Center (Radboudumc), Nijmegen, the Netherlands; Department of Human and Animal Physiology, Wageningen University & Research, Wageningen, the Netherlands. Electronic address:

Attachment of cargo molecules to lipophilic triphenylphosphonium (TPP) cations is a widely applied strategy for mitochondrial targeting. We previously demonstrated that the vitamin E-derived antioxidant Trolox increases the levels of active mitochondrial complex I (CI), the first complex of the electron transport chain (ETC), in primary human skin fibroblasts (PHSFs) of Leigh Syndrome (LS) patients with isolated CI deficiency. Primed by this finding, we here studied the cellular effects of mitochondria-targeted Trolox (MitoE10), mitochondria-targeted ubiquinone (MitoQ10) and their mitochondria-targeting moiety decylTPP (C-TPP). Read More

J Cataract Refract Surg 2022 05;48(5):517-518

Salt Lake City, Utah.

Breast Care (Basel) 2022 Apr 17;17(2):153-158. Epub 2021 Jun 17.

Department of Gynecology and Obstetrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Background: In clinical routine, not every patient who is offered genetic counselling and diagnostics in order to investigate a familial cancer risk predisposition opts for it. Little is known about acceptance of counselling and testing in newly diagnosed breast cancer cases in Germany.

Methods: All primary breast cancer cases and patients with DCIS (ductal carcinoma in situ) treated at the University Hospital of Dresden between 2016 and 2019 were included. Read More

Orphanet J Rare Dis 2022 06 13;17(1):226. Epub 2022 Jun 13.

Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8670, Japan.

Background: Werner syndrome (WS) is an autosomal recessive premature ageing disease that causes accelerated ageing-like symptoms after puberty. Previous studies conducted in the late 2000s reported that malignant neoplasms and atherosclerotic diseases were the two leading causes of death, with life expectancies in the mid-50 s. However, the recent lifespan and cause of death in patients with WS remain unclear. Read More

JNMA J Nepal Med Assoc 2022 Jun 1;60(250):562-564. Epub 2022 Jun 1.

Department of Obstetrics and Gynaecology, Bharatpur Hospital, Chitwan, Nepal.

Obstructed hemivagina and ipsilateral renal anomaly syndrome also known as Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by Mullerian duct anomalies associated with mesonephric duct anomalies. A 10-year old female presented with acute lower abdominal pain, urinary retention and scanty menstrual flow during her first menstruation. Ultrasonography and contrast computed tomography showed uterine didelphys, hematocolpos, obstructed hemivagina and left renal agenesis. Read More

J Dtsch Dermatol Ges 2022 06 3;20(6):892-904. Epub 2022 Jun 3.

Department of Dermatology, University Medical Center Mainz, Mainz, Germany.

Kaposi's sarcoma (KS) is a rare, malignant, multilocular vascular disease originating from lymphatic endothelial cells that can primarily affect the skin and mucous membranes, but also the lymphatic system and internal organs such as the gastrointestinal tract, lungs or liver. Five epidemiological subtypes of KS with variable clinical course and prognosis are distinguished, with increased incidence in specific populations: (1) Classical KS, (2) Iatrogenic KS in immunosuppression, (3) Endemic (African) lymphadenopathic KS, (4) Epidemic, HIV-associated KS and KS associated with immune reconstitution inflammatory syndrome (IRIS), and (5) KS in men who have sex with men (MSM) without HIV infection. This interdisciplinary guideline summarizes current practice-relevant recommendations on diangostics and therapy of the different forms of KS. Read More

Viruses 2022 05 3;14(5). Epub 2022 May 3.

Laboratoire de Virologie, Université de Corse Pascal Paoli, UR7310 Bioscope, 20250 Corte, France.

We aimed to investigate the immunoglobulin G response and neutralizing activity against severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) among primary health care workers (PHCW) in France and assess the association between the neutralizing activity and several factors, including the coronavirus disease 2019 (COVID-19) vaccination scheme. A cross-sectional survey was conducted between 10 May 2021 and 31 August 2021. Participants underwent capillary blood sampling and completed a questionnaire. Read More

Cells 2022 05 12;11(10). Epub 2022 May 12.

Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

Normal growth and development in mammals are tightly controlled by numerous genetic factors and metabolic conditions. The growth hormone (GH)-insulin-like growth factor-1 (IGF1) hormonal axis is a key player in the regulation of these processes. Dysregulation of the GH-IGF1 endocrine system is linked to a number of pathologies, ranging from growth deficits to cancer. Read More

Cardiol J 2022 May 27. Epub 2022 May 27.

Department of Pediatric Cardiology and General Paediatrics, Medical University of Warsaw, Poland.

Acta Neuropathol 2022 May 25. Epub 2022 May 25.

Department of Clinical Immunology, Edouard Herriot University Hospital, 69003, Lyon, France.

Anti-synthetase syndrome (ASyS)-associated myositis is a major subgroup of the idiopathic inflammatory myopathies (IIM) and is characterized by disease chronicity with musculoskeletal, dermatological and pulmonary manifestations. One of eight autoantibodies against the aminoacyl-transferase RNA synthetases (ARS) is detectable in the serum of affected patients. However, disease-specific therapeutic approaches have not yet been established. Read More

Mol Biol Rep 2022 May 20. Epub 2022 May 20.

Department of Biotechnology, SRM Institute of Science and Technology, 603203, Kattankulathur, Tamil Nadu, India.

Several proteins are involved in DNA repair mechanisms attempting to repair damages to the DNA continuously. One such protein is Xeroderma Pigmentosum Complementation Group G (XPG), a significant component in the Nucleotide Excision Repair (NER) pathway. XPG is accountable for making the 3' incision in the NER, while XPF-ERCC4 joins ERCC1 to form the XPF-ERCC1 complex. Read More

Aging Cell 2022 Jun 18;21(6):e13625. Epub 2022 May 18.

Bio-Organic Division, Bhabha Atomic Research Centre, Trombay, Mumbai, India.

Mutation in Werner (WRN) RECQL helicase is associated with premature aging syndrome (Werner syndrome, WS) and predisposition to multiple cancers. In patients with solid cancers, deficiency of the WRN RECQL helicase is paradoxically associated with enhanced overall survival in response to treatment with TOP1 inhibitors, which stabilize pathological TOP1-DNA-covalent-complexes (TOP1cc) on the genome. However, the underlying mechanism of WRN in development of chemoresistance to TOP1 inhibitors is not yet explored. Read More

J Med Genet 2022 May 9. Epub 2022 May 9.

Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA

Background: Werner syndrome (WS) is an autosomal recessive progeroid syndrome caused by variants in . The International Registry of Werner Syndrome has identified biallelic pathogenic variants in 179/188 cases of classical WS. In the remaining nine cases, only one heterozygous pathogenic variant has been identified. Read More

J Spinal Cord Med 2022 May 9:1-10. Epub 2022 May 9.

Department of Physical Medicine and Rehabilitation, VA San Diego Healthcare System, San Diego, California, USA.

Objectives: To evaluate the clinical characteristics, hospital courses, outcomes after hospitalization, and factors associated with outcomes in patients with nontraumatic spinal cord injuries (NTSCI).

Design: Retrospective analysis.

Setting: A large for-profit United States health care system. Read More

Gland Surg 2022 Apr;11(4):651-662

Institute for Surgical Research Oberbayern, Hausham, Germany.

Background: Post thyroidectomy hemorrhage is a potentially life-threatening complication. As the mechanism leading to hypoxemic brain damage and death is still unknown, our aim was to examine the underlaying pathophysiology in an animal model.

Methods: A series of experiments was performed in our established model for post thyroidectomy hemorrhage in 6 pigs. Read More

Cureus 2022 Apr 5;14(4):e23861. Epub 2022 Apr 5.

Department of Urology, Hospital General de Mexico, Mexico City, MEX.

Wünderlich syndrome (WS) is a spontaneous retroperitoneal hemorrhage confined to the subcapsular or perinephric space without a history of trauma. Since it is a rare condition with a significant mortality rate if not treated timely, it is essential to identify its risk factors and early clinical manifestations for a favorable outcome. Various conditions are associated, but the most common causes are benign and malignant renal neoplasms. Read More

J Cataract Refract Surg 2022 Jul;48(7):872

From the Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah (Culp, Qu, Mamalis, Werner); Jones Eye Clinic, Sioux City, Iowa (Jones); Advanced Vision Care, Los Angeles, California (Fram, Masket); Eye Associates of New Mexico, Albuquerque, New Mexico (Ogawa).

J Pediatr Surg 2022 Apr 15. Epub 2022 Apr 15.

Department of Pediatric Surgery, Bambino Gesù Pediatric Hospital, Piazza di Sant'Onofrio, 4, Roma 00165, Italy.

Background: OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly or Herlyn-Werner-Wunderlich syndrome) is a rare Müllerian malformation. Usually, symptoms begin with worsening dysmenorrhea in post-menarche adolescents. The management in pre-menarche period is controversial and has only recently been subject of study. Read More

Psychiatr Danub 2022 ;34(1):100-101

Pamukkale University, Department of Psychiatry, Kınıklı Campus Pamukkale, Denizli, Turkey,

Klin Onkol 2022 ;35(2):119-127

Background: Ionizing radiation DNA damage is the main mechanism of radiotherapy (RT) action and the outcome of treatment and healthy tissue toxicity is influenced by a number of external and internal factors, including mutations in DNA damage recognition and repair. Disorders of DNA repair may result in increased sensitivity to cancer treatment.

Purpose: The mechanism of DNA repair and an overview of genetic syndromes with mutations in genes involved in DNA repair clarify the accelerated carcinogenesis and increased radiosensitivity in RT cancers. Read More

Cells 2022 04 7;11(8). Epub 2022 Apr 7.

Institute of Surgical Pathology, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, Germany.

Steroid-resistant nephrotic syndrome (SRNS) frequently leads to end-stage renal disease, ultimately requiring kidney replacement therapies. SRNS is often caused by hereditary monogenic mutations, specifically affecting specialized epithelial cells (podocytes) of the glomerular filtration barrier. Mutations in several components of the nuclear pore complex, including NUP133 and NUP107, have been recently identified to cause hereditary SRNS. Read More

Front Mol Biosci 2022 4;9:831693. Epub 2022 Apr 4.

Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.

Specific mutations in the gene, which encodes CK2α, the catalytic subunit of protein kinase CK2, are considered as causative for the Okur-Chung neurodevelopmental syndrome (OCNDS). OCNDS is a rare congenital disease with a high phenotypic diversity ranging from neurodevelopmental disabilities to multi-systemic problems and characteristic facial features. A frequent OCNDS mutation is the exchange of Lys198 to Arg at the center of CK2α's P+1 loop, a key element of substrate recognition. Read More

Cell Death Dis 2022 Apr 18;13(4):363. Epub 2022 Apr 18.

Department of Genetics, ELTE Eötvös Loránd University, Budapest, Hungary.

RecQ helicases-also known as the "guardians of the genome"-play crucial roles in genome integrity maintenance through their involvement in various DNA metabolic pathways. Aside from being conserved from bacteria to vertebrates, their importance is also reflected in the fact that in humans impaired function of multiple RecQ helicase orthologs are known to cause severe sets of problems, including Bloom, Werner, or Rothmund-Thomson syndromes. Our aim was to create and characterize a zebrafish (Danio rerio) disease model for Bloom syndrome, a recessive autosomal disorder. Read More

Radiol Case Rep 2022 Jun 8;17(6):1991-1995. Epub 2022 Apr 8.

Department of Radiology, Centro Hospitalar Universitário de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.

Herlyn-Werner-Wunderlich syndrome is a rare complex congenital disorder, with combined Müllerian and mesonephric duct anomalies, presenting with uterus didelphys, unilateral blind hemivagina and ipsilateral renal agenesis. Hemivaginal obstruction usually leads to impairment of normal menstrual flow, resulting in symptoms after menarche, namely dysmenorrhea, pelvic pain or infertility. Age of presentation depends on the anatomical features of this anomaly. Read More

Front Endocrinol (Lausanne) 2022 31;13:844575. Epub 2022 Mar 31.

Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

The breast and ovarian cancer susceptibility gene (BRCA1) is a tumor suppressor whose mutation has been associated with the development of breast, ovarian and, probably, other malignancies at young ages. The BRCA1 gene product participates in multiple biological pathways including the DNA damage response, transcriptional control, cell growth and apoptosis. Inactivating germline mutations of the gene can be detected in a substantial portion of families with inherited breast and/or ovarian cancer. Read More

Case Rep Oncol 2022 Jan-Apr;15(1):170-175. Epub 2022 Mar 4.

Oncology Center, Hospital Sírio-Libanês (HSL), São Paulo, Brazil.

Werner's syndrome is caused by the inactivation of both WRN alleles and is characterized by premature aging and increased risk of neoplasms, especially those of mesenchymal origins, such as sarcomas. Given the characteristic genomic instability, patients with this syndrome are more susceptible to develop toxicities when exposed to cytotoxic agents, such as alkylators and anthracyclines. The impact of the monoallelic WRN mutation on treatment-associated toxicities is poorly understood. Read More

Clin Genet 2022 Jul 17;102(1):12-21. Epub 2022 Apr 17.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

Prompt diagnosis of complex phenotypes is a challenging task in clinical genetics. Whole exome sequencing has proved to be effective in solving such conditions. Here, we report on an unpredictable presentation of Werner Syndrome (WRNS) in a 12-year-old girl carrying a homozygous truncating variant in RECQL2, the gene mutated in WRNS, and a de novo activating missense change in PTPN11, the major Noonan syndrome gene, encoding SHP2, a protein tyrosine phosphatase positively controlling RAS function and MAPK signaling, which have tightly been associated with senescence in primary cells. Read More