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Eur J Med Genet 2021 Jun 9:104260. Epub 2021 Jun 9.

Department of Pediatrics III, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany; Department of Otorhinolaryngology & Head/Neck Surgery, University Hospital Düsseldorf, Heinrich Heine University, 40225 Düsseldorf, Germany. Electronic address:

Fanconi anemia (FA) due to biallelic mutations in the BRCA2 gene is very rare and associated with an extremely high risk of early-onset of aggressive childhood malignancies, predominantly brain tumors, leukemia, and nephroblastoma. Here, we present a consanguineous family with three affected children of the D1 subtype of FA and describe the clinical consequences of the earliest known biallelic nonsense/stop-gain germ-line mutation in BRCA2, exon 5 c.469A>T, that leads to a premature stop of translation, p. Read More

Nat Struct Mol Biol 2021 Jun 10;28(6):487-500. Epub 2021 Jun 10.

State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing, China.

Fanconi anemia (FA) is a devastating hereditary disease characterized by bone marrow failure (BMF) and acute myeloid leukemia (AML). As FA-deficient cells are hypersensitive to DNA interstrand crosslinks (ICLs), ICLs are widely assumed to be the lesions responsible for FA symptoms. Here, we show that FA-mutated cells are hypersensitive to persistent replication stress and that FA proteins play a role in the break-induced-replication (BIR)-like pathway for fork restart. Read More

Cureus 2021 May 8;13(5):e14905. Epub 2021 May 8.

Pediatrics, Emergency Clinical Hospital for Children, Cluj-Napoca, ROU.

Guillain-Barré syndrome (GBS) or acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is a rare autoimmune disorder in which the body's immune system mistakenly attacks the nerves. In this report, we present a case of a 15-month-old girl who presented with an inability to walk and support the vertical and sitting positions, pain in the lower limbs accompanied by grimaces, muscular weakness, and agitation due to gait disturbances. This is a unique case in that GBS affected a previously healthy girl and was associated with pneumonia and anemia as the disease progressed, causing an intriguing diagnosis. Read More

Cureus 2021 May 8;13(5):e14899. Epub 2021 May 8.

Department of Surgery, Institute of Medicine, Tribhuvan University Teaching Hospital, Kathmandu, NPL.

Gastroduodenal artery (GDA) anomalies are a rare entity. Rupture of such anomalies can present with a diagnostic challenge. In this report, we describe a case of ruptured pseudoaneurysm of an anomalous GDA arising directly from the aorta presenting with recurrent abdominal pain and anemia. Read More

BMC Vet Res 2021 Jun 10;17(1):215. Epub 2021 Jun 10.

University College Dublin, Belfield, Dublin 4, D04W6F6, Ireland.

Background: The popularity of new world camelids, particularly alpacas, is growing rapidly in Ireland, presenting a clinical challenge to veterinary practitioners who may not have worked with these species previously. To the authors' knowledge, the clinical course of a case of acute fasciolosis in an alpaca has not previously been reported, and fasciolosis has not been reported at all in alpacas in Ireland, making this case report a valuable addition to the current literature.

Case Presentation: A three-year-old male castrated huacaya alpaca was admitted to UCD Veterinary Hospital with a two-day history of colic and tenesmus. Read More

Transfus Clin Biol 2021 Jun 7. Epub 2021 Jun 7.

Clinical Biology Department, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Avenue Hippocrate 10, 1200 Woluwe-Saint-Lambert, Belgium. Electronic address:

In this unprecedented crisis of severe acute respiratory syndrome coronavirus 2 and its associated coronavirus disease 2019 (COVID-19), polymerase chain reaction and then serological testing platforms have been massively developed to face the important screening demand. Polymerase chain reaction and serological testing platforms are not the only actors impacted by the crisis, transfusion services are facing important difficulties. A positive direct antiglobulin test is frequently observed for patients encountering COVID-19. Read More

Orthop Surg 2021 Jun 9. Epub 2021 Jun 9.

Division of Orthopaedic Surgery, Department of Orthopaedics, Nanfang Hospital, Southern Medical University, Guangzhou, China.

Objective: To examine the incidence and risk factors of in-hospital prosthesis-related complications (PRCs) following total knee arthroplasty (TKA) using a large-scale national database.

Methods: A retrospective database analysis was performed based on Nationwide Inpatient Sample (NIS) from 2005-2014. Patients who underwent TKA were included. Read More

J Adv Pract Oncol 2021 Mar 1;12(2):211-215. Epub 2021 Mar 1.

Rush University Medical Center, Chicago, Illinois.

Acute thrombotic thrombocytopenic purpura (aTTP) is a rare microangiopathic hemolytic anemia. Standard of care currently includes plasma exchange and immunosuppressive agents, including glucocorticoids, vincristine, and rituximab. Even with these therapies, relapse occurs in 36% of patients, and mortality ranges from 10% to 20%. Read More

Sci Rep 2021 Jun 9;11(1):12170. Epub 2021 Jun 9.

Department of Pediatric Hematology and Oncology, St. Anna Children's Hospital, Medical University of Vienna, Kinderspitalgasse 6, 1090, Vienna, Austria.

Acute appendicitis is a rare gastrointestinal complication of anti-cancer chemotherapy and hematopoietic stem cell transplantation. Among a cohort of 2341 hemato-oncologic patients at a pediatric tertiary care cancer center, we identified 21 patients (0.9%) with 23 episodes of acute appendicitis, based on pathological imaging of the appendix and clinical findings. Read More

Rinsho Ketsueki 2021 ;62(5):430-434

Saitama Medical University Hospital.

In this article, I mainly review the molecular targeted therapy for thrombotic thrombocytopenic purpura (TTP). TTP is one of thrombotic microangiopathies (TMA), which demonstrate hemolytic anemia with red blood cell destruction and thrombocytopenia. Another TTP, hemolytic uremic anemia (HUS) reveals bloody stood and acute kidney failure. Read More

Int J Clin Pract 2021 Jun 9:e14468. Epub 2021 Jun 9.

Department of Internal Medicine, Istituto Figlie di San Camillo. Cremona, Italy.

Background: Red cell distribution width (RDW) is a numerical measurement of the size variability of erythrocytes and is routinely reported as a component of complete blood count in the differential diagnosis of anemia. In recent years, researchers have reported high mortality and poor prognosis associated with higher RDW in populations with cardiovascular disease, cancer, pneumonia and Chronic Obstructive Pulmonary Disease (COPD). The aim of the study is to evaluate the role of RDW in predicting the risk of COPD exacerbations and the impact of symptoms. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2021 Jun;29(3):944-950

Department of Hematology, Guangzhou NO.1 People's Hospital, Guangzhou Medical University，Guangzhou 510180, Guangdong Province, China,E-mail:

Objective: To investigate the clinical characteristics and risk factors of cytomegalovirus (CMV) infection after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in patients with severe aplastic anemia (SAA).

Methods: Clinical data from 270 SAA patients with allo-HSCT were retrospectively analyzed, including 108 sib congruence patients and 162 substitute donors (68 unrelated donor congruence patients and 94 related haploid patients). Different pretreatment schemes were selected for different transplantation modes. Read More

Surg Endosc 2021 Jun 8. Epub 2021 Jun 8.

Department of Gastroenterology, Faculty of Medicine in the Galilee, Galilee Medical Center, Bar-Ilan University, Safed, Israel.

Background: Choledocholithiasis is a commonly encountered disease that is associated with various clinical presentations ranging from mild form of biliary colic to severe life-threatening acute cholangitis. Recently, peri-ampullary diverticulum (PAD) has been linked to the development of biliary diseases; however, data regarding its association with the development of acute cholangitis in the setting of choledocholithiasis are scarce.

Aims: We aimed to identify predictors, specifically PAD, for the development of acute cholangitis in patients with choledocholithiasis. Read More

J Physiol Pharmacol 2021 Feb 3;72(1). Epub 2021 Jun 3.

Preventive Research Institute, The President Stanislaw Wojciechowski State University of Applied Sciences in Kalisz, Kalisz, Poland.

Normal iron metabolism is an inherent feature of maintaining homeostasis. There is a wide range of iron disorders, which arise from iron deficiency or overload. In addition, disturbances in iron metabolism are observed in the course of numerous chronic diseases. Read More

BMC Cardiovasc Disord 2021 Jun 7;21(1):281. Epub 2021 Jun 7.

Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, 565-0871, Japan.

Background: Complicated pathophysiology makes it difficult to identify the prognosis of heart failure with preserved ejection fraction (HFpEF). While plasma osmolality has been reported to have prognostic importance, mainly in heart failure with reduced ejection fraction (HFrEF), its prognostic meaning for HFpEF has not been elucidated.

Methods: We prospectively studied 960 patients in PURSUIT-HFpEF, a multicenter observational study of acute decompensated HFpEF inpatients. Read More

Lancet 2021 Jun 3. Epub 2021 Jun 3.

Kite, a Gilead Company, Santa Monica, CA, USA.

Background: Despite treatment with novel therapies and allogeneic stem-cell transplant (allo-SCT) consolidation, outcomes in adult patients with relapsed or refractory B-precursor acute lymphoblastic leukaemia remain poor, underlining the need for more effective therapies.

Methods: We report the pivotal phase 2 results of ZUMA-3, an international, multicentre, single-arm, open-label study evaluating the efficacy and safety of the autologous anti-CD19 chimeric antigen receptor (CAR) T-cell therapy KTE-X19 in adult patients with relapsed or refractory B-precursor acute lymphoblastic leukaemia. Patients were enrolled at 25 sites in the USA, Canada, and Europe. Read More

Cureus 2021 May 31;13(5):e15343. Epub 2021 May 31.

Internal Medicine, Wayne State University, Detroit Medical Center (DMC) Sinai Grace Hospital, Detroit, USA.

Gastric neuroendocrine tumors (GNETs) are rare and subdivided into type I, type II, and type III. Types I and II are gastrin-dependent and are usually benign, whereas type III is gastrin-independent and more aggressive. Type I accounts for 70-80% of all GNETs. Read More

J Pak Med Assoc 2021 May;71(5):1496-1498

Department of Nephrology, Shaikh Zayed Hospital, Lahore, Pakistan.

Atypical Haemolytic Uraemic Syndrome (aHUS) is considered an uncommon pathology that usually affects young adults and causes acute kidney injury which can further lead to End Stage Renal Disease (ESRD). Here we present the case of a previously healthy young boy who was diagnosed as a case of atypical HUS on renal biopsy in Sheikh Zayed Hospital Lahore. His C3 was low, while ANA and C-ANCA P-ANCA were in normal range; multiple sessions of plasmapheresis were conducted, whereas IV Methylprednisolone was also given during both admissions (the patient had to be readmitted six months later after having been discharged on improvement). Read More

Vet World 2021 Apr 19;14(4):943-948. Epub 2021 Apr 19.

Center for Agricultural Biotechnology, Kasetsart University, Kamphaeng Saen Campus, Nakhon Pathom, Thailand.

Background And Aim: Hemoplasmas are defined as small, epicellular parasitic bacteria that can infect the red blood cells of several mammalian species. Diseases caused by these bacteria range from asymptomatic infections to acute hemolytic anemia. However, data on hemoplasmas in non-human primates in Thailand remain to be limited. Read More

Stroke 2021 Jun 4:STROKEAHA120032073. Epub 2021 Jun 4.

University of Connecticut, Storrs (S. D.P., M.J.A.).

Background And Purpose: Pulmonary arteriovenous fistulas (PAVFs) are a treatable cause of acute ischemic stroke (AIS), not mentioned in current American Heart/Stroke Association guidelines. PAVFs are recognized as an important complication of hereditary hemorrhagic telangiectasia.

Methods: The prevalence of PAVF and hereditary hemorrhagic telangiectasia among patients admitted with AIS in the United States (2005-2014) was retrospectively studied, utilizing the Nationwide Inpatient Sample database. Read More

ESC Heart Fail 2021 Jun 3. Epub 2021 Jun 3.

Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University, Oko-cho, Nankoku, Kochi, 783-8505, Japan.

Aims: The aim of this study was to investigate clinical characteristics of frail patients based on a comprehensive frailty assessment in patients hospitalized for acute decompensated heart failure (HF) (ADHF) in super-aged regional Japanese cohort.

Methods And Results: We established the Kochi Registry of Subjects with Acute Decompensated Heart Failure (Kochi YOSACOI) study, which was a prospective multicentre community-based cohort study in six participating hospitals in Kochi Prefecture, Japan. We enrolled 1061 patients (median age, 81 years; 50. Read More

Diabetes Metab Syndr Obes 2021 25;14:2367-2379. Epub 2021 May 25.

Department of Nephrology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, People's Republic of China.

Purpose: Acute kidney injury is very common in hospitalized patients and carries a significant risk of mortality. Although timely intervention may improve patient prognosis, studies on the development of acute kidney disease in patients with acute kidney injury remain scarce. Thus, we constructed a prediction model to identify patients likely to develop acute kidney disease. Read More

Drug Des Devel Ther 2021 26;15:2243-2268. Epub 2021 May 26.

Division of Hematology and Transfusion Medicine, Lund University, Lund, Sweden.

Thrombocytopenia results from a variety of conditions, including radiation, chemotherapy, autoimmune disease, bone marrow disorders, pathologic conditions associated with surgical procedures, hematopoietic stem cell transplant (HSCT), and hematologic disorders associated with severe aplastic anemia. Immune thrombocytopenia (ITP) is caused by immune reactions that accelerate destruction and reduce production of platelets. Thrombopoietin (TPO) is a critical component of platelet production pathways, and TPO receptor agonists (TPO-RAs) are important for the management of ITP by increasing platelet production and reducing the need for other treatments. Read More

J Neurol Sci 2021 May 26;427:117510. Epub 2021 May 26.

Division of Pediatric Hematology Oncology, Miller School of Medicine, University of Miami, Miami, FL, USA.. Electronic address:

This comprehensive review provides an insight into the pathophysiology, epidemiology, evaluation, and treatment of sickle cell anemia (SCA)-related stroke in developed and developing countries. Vascular injury, hypercoagulability and vaso-occlusion play a role in the pathophysiology of stroke in SCA. Transcranial Doppler ultrasound (TCD) has lowered the incidence of ischemic stroke from 11% to 1% as TCD identifies children who are at risk for stroke, providing opportunities for interventions to reduce this risk. Read More

Br J Hosp Med (Lond) 2021 May 7;82(5):1-3. Epub 2021 May 7.

Department of Internal Medicine, Hospital Regional Universitario de Colima, Colima, Mexico.

Int J Mol Sci 2021 May 25;22(11). Epub 2021 May 25.

Department of Pediatric Nephrology, Amalia Children's Hospital, Radboud Institute for Molecular Life Sciences, Radboudumc, 6525 GA Nijmegen, The Netherlands.

Hemolytic uremic syndrome (HUS) is characterized by a triad of symptoms consisting of hemolytic anemia, thrombocytopenia and acute renal failure. The most common form of HUS is caused by an infection with Shiga toxin (Stx) producing bacteria (STEC-HUS), and the kidneys are the major organs affected. The development of HUS after an infection with Stx occurs most frequently in children under the age of 5 years. Read More

Cancers (Basel) 2021 May 14;13(10). Epub 2021 May 14.

School of Allergy and Clinical Immunology, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.

Benzene carcinogenic ability has been reported, and chronic exposure to benzene can be one of the risk elements for solid cancers and hematological neoplasms. Benzene is acknowledged as a myelotoxin, and it is able to augment the risk for the onset of acute myeloid leukemia, myelodysplastic syndromes, aplastic anemia, and lymphomas. Possible mechanisms of benzene initiation of hematological tumors have been identified, as a genotoxic effect, an action on oxidative stress and inflammation and the provocation of immunosuppression. Read More

Pharmaceutics 2021 May 14;13(5). Epub 2021 May 14.

Department of Nuclear Medicine, Saarland University, 66421 Homburg, Germany.

The use of Ac in prostate-specific membrane antigen (PSMA)-targeted radioligand therapy (RLT), either as monotherapy or in combination with Lu, is a promising therapy approach in patients with metastatic castration-resistant prostate carcinoma (mCRPC). In this study, we report the efficacy and safety of [Ac]Ac-PSMA-617 augmented [Lu]Lu-PSMA-617 RLT in Lu-naive mCRPC patients ( = 15) with poor prognosis (presence of visceral metastases, high total tumor burden with diffuse bone metastases or a short PSA doubling time of <2 months). Biochemical (by PSA serum value) and molecular imaging response (by [Ga]Ga-PSMA-11 PET/CT) was assessed after two cycles of [Lu]Lu-PSMA-617 RLT, with at least one [Ac]Ac-PSMA-617 augmentation. Read More

Nutrients 2021 May 7;13(5). Epub 2021 May 7.

Department of Anaesthesia, Lyell McEwin Hospital, Elizabeth Vale, SA 5112, Australia.

Low-grade inflammation is often present in people living with obesity. Inflammation can impact iron uptake and metabolism through elevation of hepcidin levels. Obesity is a major public health issue globally, with pregnant women often affected by the condition. Read More