Search Our Scientific Publications & Authors

Arch Gynecol Obstet 2021 Jun 18. Epub 2021 Jun 18.

Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Purpose: We aimed to present the fetal ultrasound, cytogenetic/molecular testing and postmortem or postnatal clinical findings of cases with 22q11.2DS diagnosed prenatally.

Materials And Methods: A retrospective medical record review of 48 prenatal cases diagnosed with 22q11. Read More

J Allergy Clin Immunol 2021 Jun 15. Epub 2021 Jun 15.

Division of Allergy and Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA. Electronic address:

Background: Identification of biomarkers associated with immune-mediated diseases in 22q11.2 deletion syndrome is an evolving field.

Objectives: We used a carefully phenotyped cohort to study immune parameters associated with autoimmunity and atopy in 22q11. Read More

Clin Case Rep 2021 Jun 10;9(6):e04308. Epub 2021 Jun 10.

Department of Internal Medicine Hamad Medical Corporation Doha Qatar.

Vitamin B12 plays a crucial role in cell maturation and differentiation. Its deficiency can lead to cytopenias and even hemolysis. We suggest regular monitoring and maintenance of Vit B12 levels in DiGeorge syndrome patients to prevent such triggers. Read More

J Neurodev Disord 2021 06 14;13(1):23. Epub 2021 Jun 14.

The Behavioral Neurogenetics Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.

Background: Pathways leading to psychosis in 22q11.2 deletion syndrome (22q11.2DS) have been the focus of intensive research during the last two decades. Read More

J Genet Psychol 2021 Jun 11:1-13. Epub 2021 Jun 11.

School of Psychology, College of Engineering, Science and Environment, University of Newcastle, Callaghan, Australia.

22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental disorder caused by a microdeletion on the long arm of chromosome 22. Sleep problems have been reported in this population, and psychiatric disorders and affect dysregulation are common to the behavioral phenotype of 22q11DS. Read More

J Clin Med Res 2021 May 25;13(5):253-257. Epub 2021 May 25.

South Bay Institute of Clinical Research, University of California, Berkeley, CA, USA.

Serum calcium is routinely screened, but rarely scrutinized in the context of normal, physiologic functioning. This brief review strives to explore the implications of serum calcium, suggests guidelines for its interpretation, and discusses the implications of high, low, and "normocalcemia" in the clinical setting. We find that serum Ca concentrations are a valuable prognostic indicator in routine metabolic workups and advocate for greater attention, on behalf of the provider, to variations in a patient's calcemic status. Read More

Appl Clin Genet 2021 1;14:267-277. Epub 2021 Jun 1.

Congenital Abnormalities and Rare Disease Centre (CIACER), Cali, Colombia.

Background: DiGeorge syndrome (DG) is a genetic disorder associated with 22q11 deletion. It involves various phenotypes, including craniofacial abnormalities, congenital heart disorders, endocrine dysfunction, cognitive deficits, and psychiatric disorders. Cases commonly involve multiple anomalies. Read More

Cell Death Dis 2021 Jun 7;12(6):587. Epub 2021 Jun 7.

Department of Tumor Immunotherapy, Fourth Hospital of Hebei Medical University, 050035, Shijiazhuang, Hebei, China.

Long noncoding RNAs (lncRNAs) emerge as essential roles in the regulation of alternative splicing (AS) in various malignancies. Serine- and arginine-rich splicing factor 1 (SRSF1)-mediated AS events are the most important molecular hallmarks in cancer. Nevertheless, the biological mechanism underlying tumorigenesis of lncRNAs correlated with SRSF1 in esophageal squamous cell carcinoma (ESCC) remains elusive. Read More

Turk J Obstet Gynecol 2021 06;18(2):103-108

Biruni University Faculty of Medicine, Department of Perinatology, İstanbul, Turkey

Objective: To investigate the frequency and types of chromosomal abnormalities in fetuses with the aberrant right subclavian artery (ARSA) and to evaluate its association with other ultrasonographic findings.

Materials And Methods: In all, 11,666 fetal anatomic surveys were performed between March 2014 and March 2020. The cases diagnosed as ARSA were examined. Read More

Mol Cytogenet 2021 May 28;14(1):29. Epub 2021 May 28.

Department of Pediatrics, The First Affiliated Hospital of Fujian Medical University, Chazhong Road 20, Taijiang District, Fuzhou, 350004, Fujian, China.

Background: Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Read More

Chronobiol Int 2021 May 24:1-13. Epub 2021 May 24.

National Institute of Biomedical Genomics, Kalyani, India.

The 24-h circadian rhythm handles a wide variety of physiological needs. Clock genes, in coordination with other tissue-specific factors regulate various processes and often turns responsible for the pathological conditions when altered. Cancer is one such disease where the clock genes have been shown to contribute at multiple levels modulating key hallmarks of cancer. Read More

Eur Heart J Case Rep 2021 May 12;5(5):ytab166. Epub 2021 May 12.

Clinic for Electrophysiology, Herz- und Diabeteszentrum NRW, Ruhr-Universität Bochum, Georgstr. 11, 32545, Bad Oeynhausen, Germany.

Background: DiGeorge syndrome, also known as 'CATCH 22', is the most common deletion in humans and is one of the velocardiofacial syndromes. It is characterized by a specific facial phenotype, and structural and functional abnormalities in the cardiac and endocrine systems. One form of endocrine system dysfunction is hypocalcaemia, which causes arrhythmic events and can result in a transient loss of consciousness. Read More

J Clin Immunol 2021 May 18. Epub 2021 May 18.

Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, Durham, NC, USA.

Background: Children with complete DiGeorge anomaly (cDGA) have congenital athymia plus a myriad of other challenging clinical conditions. The term cDGA encompasses children with congenital athymia secondary to 22q11.2DS, CHARGE syndrome (coloboma, heart defects, choanal atresia, growth or mental retardation, genital abnormalities, and ear abnormalities and/or deafness), and other genetic abnormalities. Read More

J Clin Immunol 2021 May 13. Epub 2021 May 13.

Department of Pediatrics, Section of Allergy and Immunology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA.

Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth and development, Genitourinary anomalies, and Ear anomalies), and Complete DiGeorge Syndrome. Read More

Eur J Case Rep Intern Med 2021 9;8(4):002411. Epub 2021 Apr 9.

Department of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The Netherlands.

22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. Read More

Mol Cell Biochem 2021 May 10. Epub 2021 May 10.

Department of Obstetrics and Gynecology, Shanxi Bethune Hospital Shanxi Academy of Medical Sciences, No.99, Longcheng Street, Taiyuan, 030032, China.

Long noncoding RNA (lncRNA)-DGCR5 has been recognized as a potential tumor progression regulator, while its expression and specific functions in preeclampsia (PE) development remain unveiled. The expressions of miR-454-3p, lncRNA-DiGeorge syndrome critical region gene 5 (DGCR5) and growth arrest and DNA damage protein-inducible 45A (GADD45A) in placental tissues from PE patients or HTR-8/SVneo cells were assessed by Western blot or qRT-PCR. Dual-luciferase reporter assay determined the binding relations between miR-454-3p and GADD45A and between miR-454-3p and lncRNA-DGCR5. Read More

Front Immunol 2021 22;12:649182. Epub 2021 Apr 22.

Division of Allergy and Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.

Background: Primary immunodeficiency is common among patients with autoimmune cytopenia.

Objective: The purpose of this study is to retrospectively identify key clinical features and biomarkers of primary immunodeficiency (PID) in pediatric patients with autoimmune cytopenias (AIC) so as to facilitate early diagnosis and targeted therapy.

Methods: Electronic medical records at a pediatric tertiary care center were reviewed. Read More

Int J Mol Sci 2021 Apr 13;22(8). Epub 2021 Apr 13.

Division of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Bunkyo-ku, Tokyo 113-8602, Japan.

(1) Background: Acquired resistance to epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) is an intractable problem for many clinical oncologists. The mechanisms of resistance to EGFR-TKIs are complex. Long non-coding RNAs (lncRNAs) may play an important role in cancer development and metastasis. Read More

J Med Case Rep 2021 Apr 21;15(1):208. Epub 2021 Apr 21.

Department of Medical Genetics, 'G. D'Annunzio' University, Chieti, Italy.

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2).

Case Presentation: In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH. Read More

Cardiol Young 2021 Apr 21:1-3. Epub 2021 Apr 21.

Department of Pediatric Cardiology, Fortis Escorts Heart Institute, Delhi, India.

DiGeorge syndrome is a rare spectrum of disorder affecting structures derived from third and fourth pharyngeal pouches characterised by aplasia or hypoplasia of thymus and parathyroid glands, and conotruncal anomalies. Presentation includes infants with hypocalcemic seizures, CHD, or recurrent infection. This case report illustrates a unique combination of proximal interruption of right pulmonary artery and aberrant right subclavian artery in a 3-month-old infant who was subsequently diagnosed as DiGeorge syndrome. Read More

Ann Thorac Surg 2021 Apr 14. Epub 2021 Apr 14.

Boston Children's Hospital, Harvard Medical School, Department of Cardiac Surgery, Boston, MA. Electronic address:

Background: Reconstruction of a right aortic arch (RAA) is rarely required in the newborn period and has rarely been reported.

Methods: All patients who underwent a RAA repair in the neonatal period from a single institution were retrospectively reviewed. The primary outcome measures included survival, complications, and reintervention. Read More

JPRAS Open 2021 Jun 19;28:126-130. Epub 2021 Mar 19.

Department of Plastic & Reconstructive Surgery, University Hospital Galway, Co. Galway, Ireland.

The most common deletion syndrome is 22q11.2 and it effects an estimated 1 in 3000 live births. Major features of this multisystem condition include congenital abnormalities, developmental delay, learning difficulties, immunodeficiency, endocrine anomalies and an array of psychiatric disorders. Read More

Immun Inflamm Dis 2021 Jun 10;9(2):583-594. Epub 2021 Apr 10.

Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Background: Immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and autoimmune neutropenia (AIN) are disorders characterized by immune-mediated destruction of hematopoietic cell lineages. A link between pediatric immune cytopenias and inborn errors of immunity (IEI) was established in particular in the combined and chronic forms.

Objective: Aim of this study is to provide clinical-immunological parameters to hematologists useful for a prompt identification of children with immune cytopenias deserving a deeper immunological and genetic evaluation. Read More

Mol Diagn Ther 2021 May 7;25(3):339-349. Epub 2021 Apr 7.

Department of Obstetrics and Gynecology, Xijing Hospital, The Fourth Military Medical University, 127 West ChangLe Road, Xi'an, 710032, Shaanxi, China.

Objective: To evaluate the clinical value of BACs-on-Beads (BoBs) assay in detection of microdeletion and microduplication syndromes.

Methods: A total of 6,814 cases of amniotic fluid cells collected from January 2015 to July 2020 in our hospital were analyzed by chromosomal karyotyping and BoBs assay. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation for the cases of microdeletion and microduplication. Read More

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2021 Mar 31. Epub 2021 Mar 31.

Department of Medical Genetics, University Hospital Olomouc, Czech Republic.

Aims: The aim of this retrospective study was to determine the detection rate of the pathogenic copy number variants (CNVs) in a cohort of 33 foetuses - 32 with CHD (congenital heart defects) and 1 with kidney defect, after exclusion of common aneuploidies (trisomy 13, 18, 21, and monosomy X) by karyotyping, Multiplex ligation - dependent probe amplification (MLPA) and chromosomal microarray analysis (CMA). We also assess the effectivity of MLPA as a method of the first tier for quick and inexpensive detection of mutations, causing congenital malformations in foetuses.

Methods: MLPA with probe mixes P070, P036 - Telomere 3 and 5, P245 - microdeletions, P250 - DiGeorge syndrome, and P311 - CHD (Congenital heart defects) was performed in 33 samples of amniotic fluid and chorionic villi. Read More

Front Immunol 2021 18;12:655354. Epub 2021 Mar 18.

Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

Inborn errors of thymic stromal cell development and function lead to impaired T-cell development resulting in a susceptibility to opportunistic infections and autoimmunity. In their most severe form, congenital athymia, these disorders are life-threatening if left untreated. Athymia is rare and is typically associated with complete DiGeorge syndrome, which has multiple genetic and environmental etiologies. Read More

Int J Environ Res Public Health 2021 03 8;18(5). Epub 2021 Mar 8.

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, 97080 Würzburg, Germany.

At present, there is a lack of longitudinal studies on the psychological adjustment of both children and adolescents with 22q11.2 deletion syndrome (22q11.2DS) and their primary caregivers. Read More

Pediatr Cardiol 2021 Jun 30;42(5):1058-1063. Epub 2021 Mar 30.

Division of Cardiology, Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, VA, USA.

Truncus arteriosus (TA) is a major congenital cardiac malformation that requires surgical repair in the first few weeks of life. Interrupted aortic arch (IAA) is an associated malformation that significantly impacts the complexity of the TA operation. The aim of this study was to (1) define the comorbid conditions associated with TA and (2) determine the hospital survival and morbidity of patients with TA with and without an IAA. Read More

J Clin Immunol 2021 Mar 19. Epub 2021 Mar 19.

Department of Pediatrics, Division of Pediatric Infectious Diseases and Immunology, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT, 06106, USA.

Purpose: An analysis of patients in the United States Immunodeficiency Network (USIDNET) registry previously described a discordance in the reported prevalence of humoral immune deficiency in patients with DiGeorge syndrome (DGS) and its treatment. The primary purpose of this study is to evaluate the rates of humoral immunodeficiency and immune globulin replacement therapy (IGRT) use in patients with DiGeorge syndrome in the USIDNET registry as of September 2016, and to correlate IGRT use with prior infections and laboratory evidence of immune deficiency.

Methods: Current patients in the USIDNET registry with DGS were identified. Read More

J Genet 2021 ;100

Clinical Pediatric Genetics, Department of Public Health Sciences and Pediatrics, University of Torino, 10126 Torino, Italy.

The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability. Read More