Search Our Scientific Publications & Authors

Surg Radiol Anat 2018 Jun 21. Epub 2018 Jun 21.

Unit of Human Anatomy and Embryology, Department of Morphological Sciences, Faculty of Medicine, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Bellaterra, 08193, Barcelona, Spain.

Purpose: Situs inversus totalis is mirror transposition of thoracic and abdominal organs. Very few reports have been published on anatomic dissections of cadavers with this condition.

Methods: This work describes a case of situs inversus totalis identified during the anatomical dissection of a 91-year-old woman. Read More

Biomed Rep 2018 Jul 29;9(1):21-36. Epub 2018 May 29.

CREST, Japan Science and Technology Agency, Kawaguchi, Saitama 332-0012, Japan.

Given that early-onset type 2 diabetes mellitus (T2DM), metabolic syndrome (MetS), and hyperuricemia have been shown to have strong genetic components, the statistical power of a genetic association study may be increased by focusing on early-onset subjects with these conditions. Although genome-wide association studies have identified various genes and loci significantly associated with T2DM, MetS, and hyperuricemia, genetic variants that contribute to predisposition to these conditions in Japanese subjects remain to be identified definitively. We performed exome-wide association studies (EWASs) for early-onset T2DM, MetS, or hyperuricemia to identify genetic variants that confer susceptibility to these conditions. Read More

Oman J Ophthalmol 2018 May-Aug;11(2):158-160

Department of Public Health Dentistry, VSPM Dental College and Hospital, Nagpur, Maharashtra, India.

Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. Read More

Mol Neurobiol 2018 Jun 19. Epub 2018 Jun 19.

State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China.

Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, intellectual disability, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia. Zeb2 in mice is involved in patterning neural and lens epithelia, neural tube closure, as well as in the specification, differentiation and migration of neural crest cells and cortical neurons. At present, it is still unclear how Zeb2 mutations cause retinal coloboma, whether Zeb2 inactivation results in retinal degeneration, and whether Zeb2 is sufficient to promote the differentiation of different retinal cell types. Read More

J Clin Endocrinol Metab 2018 Jun 6. Epub 2018 Jun 6.

Division of Endocrinology and Metabolism, Albany Medical College, Albany, NY.

Context: Mutations in genes encoding for succinate dehydrogenase (SDH) complex are linked to hereditary paraganglioma syndromes. Paraganglioma syndrome 3 (PGL3) is associated with mutations in SDHC and typically manifests as benign, nonfunctional head and neck paragangliomas.

Case Description: We describe a case of a 51-year-old woman who initially presented with diarrhea and hypertension and was found to have a retroperitoneal mass, which was resected with a pathology consistent with paraganglioma. Read More

Arthrosc Tech 2018 May 23;7(5):e541-e545. Epub 2018 Apr 23.

Department of Orthopaedic Surgery, Dalhousie University and Nova Scotia Health Authority, Halifax, Nova Scotia, Canada.

Recurrent multidirectional shoulder instability is a difficult clinical problem. This can be compounded in patients with connective tissue diseases such as Ehlers-Danlos syndrome. We present an all-arthroscopic technique involving extra-articular anterior and posterior glenoid bone grafting to augment a capsular repair in a patient with Ehlers-Danlos syndrome and recurrent multidirectional shoulder instability. Read More

Case Reports Hepatol 2018 30;2018:2704949. Epub 2018 Apr 30.

Department of Pathology, Greenville Health System, University of South Carolina School of Medicine Greenville, Greenville, SC, USA.

We report on a rare case of refractory hepatic hydrothorax in an individual with Scleroderma/CREST syndrome and noncirrhotic portal hypertension. Portal pressure measurements revealed a normal transjugular hepatic venous portal pressure gradient, mild pulmonary hypertension, and an unremarkable liver biopsy except for mild sinusoidal dilation. Pulmonary hypertension, cardiac diastolic dysfunction, and chronic kidney disease were determined to be the causes of his refractory pleural effusions and ascites. Read More

Endocrine 2018 May 30. Epub 2018 May 30.

Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, China.

Purpose: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors of neural crest origin. Germline or somatic mutations of numerous genes have been implicated in the pathogenesis of PPGLs, including the isocitrate dehydrogenase 1 (IDH1) gene and alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene. Although concurrent IDH1 and ATRX mutations are frequently seen in gliomas, they have never been reported together in PPGLs. Read More

J Ultrason 2018 Mar 30;18(72):16-21. Epub 2018 Mar 30.

Medical University of Plovdiv, Rheumatology Clinic, Kaspela University Hospital, Plovdiv, Bulgaria.

Background: Iliac crest pain syndrome is a regional pain syndrome that has been identified in many patients with low back pain. Based on anatomical studies, it was suggested that the potential substrate of this syndrome might be the enthesis of the erector spinae muscle at the posterior medial iliac crest. As there have been no imaging studies of this important enthesis, our aim was to assess its characteristics by ultrasound. Read More

J Neurodev Disord 2018 May 22;10(1):17. Epub 2018 May 22.

Department of Molecular Medicine, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.

Background: Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. Read More

Semin Cell Dev Biol 2018 May 18. Epub 2018 May 18.

Centre for Craniofacial and Regenerative Biology, Kings College London Dental Institute, London, United Kingdom.

The vertebrate tongue is a complex muscular organ situated in the oral cavity and involved in multiple functions including mastication, taste sensation, articulation and the maintenance of oral health. Although the gross embryological contributions to tongue formation have been known for many years, it is only relatively recently that the molecular pathways regulating these processes have begun to be discovered. In particular, there is now evidence that the Hedgehog, TGF-Beta, Wnt and Notch signaling pathways all play an important role in mediating appropriate signaling interactions between the epithelial, cranial neural crest and mesodermal cell populations that are required to form the tongue. Read More

Am J Ophthalmol Case Rep 2018 Jun 2;10:185-188. Epub 2018 Mar 2.

Casey Eye Institute, Oregon Health & Science University, Portland, OR 97239, USA.

Purpose: To report two cases of retinal vasculitis associated with CREST syndrome, a novel ocular finding.

Observations: We report two cases of patients with CREST syndrome with ocular inflammatory disease. Patient 1 presented with a right unilateral panuveitis with extensive retinal vasculitis and evidence of prior uveitis in the contralateral eye. Read More

Int J Dermatol 2018 May 18. Epub 2018 May 18.

Department of Stomatology, Institute of Biomedical Sciences, Autonomous University of Ciudad Juárez, Ciudad Juárez, Chihuahua, Mexico.

Background: Connective tissue autoimmune diseases (CTADs) constitute a group of conditions, including rheumatoid arthritis; systemic lupus erythematosus; mixed connective tissue disease; calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome; scleroderma; dermatomyositis; and Sjögren syndrome. There are few studies on the alterations in filiform papillae in CTAD. Thus, the objective of this work was to determine whether there are changes in the macroscopic and dermoscopic patterns of filiform papillae. Read More

Stem Cells Int 2018 15;2018:8973613. Epub 2018 Apr 15.

Department of Stem Cell Preparation, St. Elisabeth Cancer Institute, Bratislava, Slovakia.

Stem cells derived from human dental pulp tissue (DP-MSC) differ from the other mesenchymal stem cells prepared from bone marrow or adipose tissue due to their embryonic origin from the neural crest and are of special interest because of their neurotropic character. Furthermore, the therapeutic potential of DP-MSCs is realized through paracrine action of extracellularly released components, for which exosomes play an important role. In this review, we intend to explore the properties of these cells with an emphasis on exosomes. Read More

G3 (Bethesda) 2018 May 14. Epub 2018 May 14.

Johns Hopkins University School of Medicine

Trisomy for human chromosome 21 (Hsa21) results in Down syndrome (DS), one of the most genetically complex conditions compatible with human survival. Assessment of the physiological consequences of dosage-driven overexpression of individual Hsa21 genes during early embryogenesis and the resulting contributions to DS pathology in mammals are not tractable in a systematic way. A recent study looked loss-of-function of C. Read More

Gene 2018 Aug 4;666:145-157. Epub 2018 May 4.

Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA. Electronic address:

The PAX3 gene encodes a member of the PAX family of transcription factors that is characterized by a highly conserved paired box motif. The PAX3 protein is a transcription factor consisting of an N-terminal DNA binding domain (containing a paired box and homeodomain) and a C-terminal transcriptional activation domain. This protein is expressed during development of skeletal muscle, central nervous system and neural crest derivatives, and regulates expression of target genes that impact on proliferation, survival, differentiation and motility in these lineages. Read More

Zhonghua Nan Ke Xue 2017 Sep;23(9):838-841

PLA Research Institute of Clinical Laboratory Medicine, Jingling Hospital, Nanjing University School of Medicine / Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.

The transcription factor SOX10, as a major actor in the development of the neural crest, plays a key role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation. Abnormalities of neural crest development in humans lead to a number of genetic diseases known as neurocristopathies or neural crest disorders. The mutation of SOX10 can cause Kallmann syndrome (KS), which is a clinically and genetically heterogeneous condition and defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves. Read More

BMC Neurosci 2018 May 2;19(1):28. Epub 2018 May 2.

Department of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Key Laboratory of Hearing Impairment Science, Chinese PLA Medical School,Ministry of Education, Beijng, China.

Background: Auditory function and cochlear morphology have previously been described in a porcine model with spontaneous WS2-like phenotype. In the present study, cochlear histopathology was further investigated in the inner ear of the developing spontaneous deafness pig.

Results: We found that the stria vascularis transformed into a complex tri-laminar tissue at embryonic 85 days (E85) in normal pigs, but not in the MITF pigs. Read More

Am J Med Genet A 2018 Jun 25;176(6):1398-1404. Epub 2018 Apr 25.

Department of Pediatrics, University of Washington, Seattle, Washington.

Congenital central hypoventilation syndrome (CCHS) is a neurocristopathy caused by pathogenic heterozygous variants in the gene paired-like homeobox 2b (PHOX2B). It is characterized by severe infantile alveolar hypoventilation. Individuals may also have diffuse autonomic nervous system dysfunction, Hirschsprung disease and neural crest tumors. Read More

Anat Rec (Hoboken) 2018 Apr 16. Epub 2018 Apr 16.

Laboratorio de Neuroplasticidad y Neurodegeneración, Facultad de Medicina de Ciudad Real, Centro Regional de Investigaciones Biomédicas, Universidad de Castilla-La Mancha, Ciudad Real 13071, Spain.

Originally discovered in elasmobranchs by Fritsh in 1878, the nervus terminalis has been found in virtually all species, including humans. After more than one-century debate on its nomenclature, it is nowadays recognized as cranial pair zero. The nerve mostly originates in the olfactory placode, although neural crest contribution has been also proposed. Read More

Pan Afr Med J 2018 4;29. Epub 2018 Jan 4.

Gastroenterology Department, Rabta Hospital, Tunisia.

Dev Biol 2018 Mar 20. Epub 2018 Mar 20.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, United States. Electronic address:

Mutations that disrupt the inwardly rectifying potassium channel Kir2.1 lead to Andersen-Tawil syndrome that includes periodic paralysis, cardiac arrhythmia, cognitive deficits, craniofacial dysmorphologies and limb defects. The molecular mechanism that underlies the developmental consequences of inhibition of these channels has remained a mystery. Read More

Int J Environ Res Public Health 2018 Mar 22;15(4). Epub 2018 Mar 22.

Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Agency, 4-1-8 Honcho, Kawaguchi, Saitama 332-0012, Japan.

Elevating herd immunity level against rubella is essential to prevent congenital rubella syndrome (CRS). Insufficient vaccination coverage left susceptible pockets among adults in Japan, and the outbreak of rubella from 2012 to 2013 resulted in 45 observed CRS cases. Given a limited stock of rubella-containing vaccine (RCV) available, the Japanese government recommended healthcare providers to prioritize vaccination to those confirmed with low level of immunity, or to those likely to transmit to pregnant women. Read More

Genet Med 2018 Mar 15. Epub 2018 Mar 15.

Division of Human Genetics, Cincinnati Children's Hospital and Medical Center,Cincinnati, Ohio, USA.

PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS. Read More

F1000Res 2017 4;6:2087. Epub 2017 Dec 4.

Centro de Investigaciones Biológicas, U-707 CIBERER, Madrid, Spain.

This case report presents the clinical evolution and management of a patient with a hereditary paraganglioma syndrome. This disease is characterized by rare tumors of neural crest origin that are symmetrically distributed along the paravertebral axis from the base of the skull and neck to the pelvis. In addition, these patients may develop renal cancer, gastrointestinal stromal tumors, pituitary adenomas, and bone metastasis in some cases. Read More

Pediatr Med Chir 2017 Dec 15;39(4):169. Epub 2017 Dec 15.

Department of Neurosciences, Ophthalmology, Rehabilitation, Genetics, and Mother-Child Sciences, University of Genoa, Genoa.

The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system) and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC. In this view, the CNS spongy alterations in KSS may be not only a dystrophic process (leukodystrophy) but also a dysplastic condition (leukodysplasia). Read More

J Med Case Rep 2018 Mar 4;12(1):56. Epub 2018 Mar 4.

Wake Forest School of Medicine, Medical Center Blvd, Winston Salem, NC, 27157, USA.

Background: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. Read More

Oncotarget 2018 Jan 28;9(8):8165-8178. Epub 2017 Nov 28.

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.

In recent years, rapidly accumulating evidence implicates forkhead box C1 () in cancer, especially in studies of basal-like breast cancer (BLBC). Other studies have followed suit, demonstrating that is not only a major player in this breast cancer subtype, but also in hepatocellular carcinoma (HCC), endometrial cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL). The gene encodes a transcription factor that is crucial to mesodermal, neural crest, and ocular development, and mutations found in have been found to cause dominantly inherited Axenfeld-Rieger Syndrome (ARS). Read More

Spinal Cord Ser Cases 2018 19;4:13. Epub 2018 Feb 19.

5Department of Surgery, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

Introduction: Concomitant mycotic abdominal aortic aneurysm and lumbar tuberculous spondylitis with psoas abscess and cauda equina syndrome is extremely rare. This condition can cause serious life-threatening problems if not diagnosed and treated properly.

Case Presentation: We report an unusual case of a 79-year-old Thai male, who was diagnosed with concomitant mycotic abdominal aortic aneurysm and lumbar tuberculous spondylitis at the L2-L3 level with left psoas abscess and cauda equina syndrome. Read More

Am J Pathol 2018 May 16;188(5):1213-1224. Epub 2018 Feb 16.

Department of Molecular Oncology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan; Department of Hepato-Biliary-Pancreatic Surgery, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:

Metabolic syndrome is a newly identified risk factor for hepatocellular carcinoma (HCC); however, tumor-specific biomarkers still remain unclear. We performed cross-species analysis to compare gene signatures of HCC from human patients and melanocortin 4 receptor-knockout mice, which develop HCC with obesity, insulin resistance, and dyslipidemia. Unsupervised hierarchical clustering and principle component analysis of 746 differentially expressed orthologous genes classified HCC of 152 human patients and melanocortin 4 receptor-knockout mice into two distinct subgroups, one of which included mouse HCC and was causatively associated with metabolic risk factors. Read More

Dermatol Online J 2017 Nov 15;23(11). Epub 2017 Nov 15.

Baylor College of Medicine, Department of Dermatology, Houston, Texas.

Eruptaneous metastasis is an uncommon presentation of colorectal adenocarcinoma that can occur years after diagnosis of the primary cancer or manifest as the first sign of malignancy. It is essential to diagnose these metastases immediately, as this late-stage development carries a poor prognosis. The scalp is one of the less common sites for skin metastases and nodules may be mistaken for benign entities. Read More

Genes Dev 2018 01 9;32(2):165-180. Epub 2018 Feb 9.

Department of Physiology, Keio University School of Medicine, Shinjuku-ku, Tokyo 160-8582, Japan.

Multiple congenital disorders often present complex phenotypes, but how the mutation of individual genetic factors can lead to multiple defects remains poorly understood. In the present study, we used human neuroepithelial (NE) cells and CHARGE patient-derived cells as an in vitro model system to identify the function of chromodomain helicase DNA-binding 7 (CHD7) in NE-neural crest bifurcation, thus revealing an etiological link between the central nervous system (CNS) and craniofacial anomalies observed in CHARGE syndrome. We found that CHD7 is required for epigenetic activation of superenhancers and CNS-specific enhancers, which support the maintenance of the NE and CNS lineage identities. Read More

Hum Mol Genet 2018 Apr;27(8):1343-1352

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.

CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome suggesting that SEMA3A may provide a genetic link between these syndromes. Read More

J Am Coll Cardiol 2018 Feb;71(6):606-616

Division of Research, Kaiser Permanente Northern California, Oakland, California.

Background: Both the modified History, Electrocardiogram, Age, Risk factors and Troponin (HEART) score and the Emergency Department Assessment of Chest pain Score (EDACS) can identify patients with possible acute coronary syndrome (ACS) at low risk (<1%) for major adverse cardiac events (MACE).

Objectives: The authors sought to assess the comparative accuracy of the EDACS (original and simplified) and modified HEART risk scores when using cardiac troponin I (cTnI) cutoffs below the 99th percentile, and obtain precise MACE risk estimates.

Methods: The authors conducted a retrospective study of adult emergency department (ED) patients evaluated for possible ACS in an integrated health care system between 2013 and 2015. Read More

Crit Care Nurs Clin North Am 2018 Mar 29;30(1):149-156. Epub 2017 Nov 29.

Lehigh Valley Health Network, 1210 South Cedar Crest Boulevard, Allentown, PA 18103, USA.

Escherichia coli is a bacterium that is an important part of the intestinal tract; however, it has the potential to become pathogenic. Shiga toxin-producing E coli (STEC) is a leading cause of E coli infections and has led to outbreaks in North America. Transmission is through ingestion of contaminated food sources, and via infected humans and animals. Read More

Dev Neurobiol 2018 Apr 2;78(4):374-390. Epub 2018 Feb 2.

Institute of Molecular and Cell Biology, University of Tartu, 23 Riia St, Tartu, 51010, Estonia.

Autosomal recessive disorders such as Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and the muscle-eye-brain disease are characterized by defects in the development of patient's brain, eyes, and skeletal muscles. These syndromes are accompanied by brain malformations like type II lissencephaly in the cerebral cortex with characteristic overmigrations of neurons through the breaches of the pial basement membrane. The signaling pathways activated by laminin receptors, dystroglycan and integrins, control the integrity of the basement membrane, and their malfunctioning may underlie the pathologies found in the rise of defects reminiscent of these syndromes. Read More

Front Immunol 2017 15;8:1823. Epub 2018 Jan 15.

Laboratory of Systems Virology, Department of Biosystems Science, Institute for Frontier Life and Medical Sciences, Kyoto University, Kyoto, Japan.

Human immunodeficiency virus type 1 (HIV-1) is the causative agent of acquired immunodeficiency syndrome and its infection leads to the onset of several disorders such as the depletion of peripheral CD4 T cells and immune activation. HIV-1 is recognized by innate immune sensors that then trigger the production of type I interferons (IFN-Is). IFN-Is are well-known cytokines eliciting broad anti-viral effects by inducing the expression of anti-viral genes called interferon-stimulated genes (ISGs). Read More

PLoS One 2018 25;13(1):e0191751. Epub 2018 Jan 25.

Department of Laboratory Medicine, Lund Stem Cell Center, Lund University, Lund, Sweden.

Chondroitin sulfate (CS)/dermatan sulfate (DS) proteoglycans are abundant on the cell surface and in the extracellular matrix and have important functions in matrix structure, cell-matrix interaction and signaling. The DS epimerases 1 and 2, encoded by Dse and Dsel, respectively, convert CS to a CS/DS hybrid chain, which is structurally and conformationally richer than CS, favouring interaction with matrix proteins and growth factors. We recently showed that Xenopus Dse is essential for the migration of neural crest cells by allowing cell surface CS/DS proteoglycans to adhere to fibronectin. Read More

Nature 2018 02 24;554(7690):112-117. Epub 2018 Jan 24.

Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, California 94305, USA.

Many craniofacial disorders are caused by heterozygous mutations in general regulators of housekeeping cellular functions such as transcription or ribosome biogenesis. Although it is understood that many of these malformations are a consequence of defects in cranial neural crest cells, a cell type that gives rise to most of the facial structures during embryogenesis, the mechanism underlying cell-type selectivity of these defects remains largely unknown. By exploring molecular functions of DDX21, a DEAD-box RNA helicase involved in control of both RNA polymerase (Pol) I- and II-dependent transcriptional arms of ribosome biogenesis, we uncovered a previously unappreciated mechanism linking nucleolar dysfunction, ribosomal DNA (rDNA) damage, and craniofacial malformations. Read More

Diabetes Metab Syndr 2018 May 4;12(3):369-374. Epub 2018 Jan 4.

BIRDEM General Hospital, Dhaka, Bangladesh.

Aims: The study was done to assess the magnitude of problems of metabolic syndrome among obese adolescents.

Materials And Method: It was a cross-sectional study done from January 2013 to June 2014 in paediatric endocrine outpatient department in BIRDEM General Hospital, Dhaka, Bangladesh. Total 172 adolescents having exogenous obesity aged 10-18 years were included. Read More

Am J Pathol 2018 Apr 31;188(4):1043-1058. Epub 2018 Jan 31.

Institute of Life Science, Nanchang University, Nanchang, China; School of Life Sciences, Nanchang University, Nanchang, China; Jiangxi Provincial Collaborative Innovation Center for Cardiovascular, Digestive and Neuropsychiatric Diseases, Nanchang, China. Electronic address:

Coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome is a congenital disorder affecting multiple organs and mainly caused by mutations in CHD7, a gene encoding a chromatin-remodeling protein. Immunodeficiency and reduced T cells have been noted in CHARGE syndrome. However, the mechanisms underlying T lymphopenia are largely unexplored. Read More

BMC Genomics 2018 01 18;19(1):59. Epub 2018 Jan 18.

School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, NR4 7TJ, UK.

Background: The neural crest (NC) is a class of transitory stem cell-like cells unique to vertebrate embryos. NC cells arise within the dorsal neural tube where they undergo an epithelial to mesenchymal transition in order to migrate and differentiate throughout the developing embryo. The derivative cell types give rise to multiple tissues, including the craniofacial skeleton, peripheral nervous system and skin pigment cells. Read More

Physiol Genomics 2018 Mar 12;50(3):179-189. Epub 2018 Jan 12.

Department of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu, Mie , Japan.

Recent genome-wide association studies have identified various obesity or metabolic syndrome (MetS) susceptibility loci. However, most studies were conducted in a cross-sectional manner. To address this gap, we performed a longitudinal exome-wide association study to identify susceptibility loci for obesity and MetS in a Japanese population. Read More

Int J Oral Maxillofac Surg 2018 Jun 12;47(6):738-742. Epub 2018 Jan 12.

Department of Oral and Maxillofacial Surgery, St James's Hospital, Dublin, Ireland.

Melnick-Needles syndrome (MNS) is a rare congenital X-linked dominant skeletal dysplasia, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism. Dental features may include anodontia, hypodontia, or oligodontia. Increased collagen content, unpredictable collagen synthesis, and abnormal bony architecture have raised concerns regarding bone splitting intraoperatively and bone healing postoperatively. Read More

Proc Natl Acad Sci U S A 2018 Jan 8;115(4):E620-E629. Epub 2018 Jan 8.

Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada;

CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability, caused mainly by mutations in (chromodomain helicase DNA-binding protein 7), known to encode a chromatin remodeler. The genetic lesions responsible for mutation-negative cases are unknown, at least in part because the pathogenic mechanisms underlying CHARGE syndrome remain poorly defined. Here, we report the characterization of a mouse model for mutation-negative cases of CHARGE syndrome generated by insertional mutagenesis of (family with sequence similarity 172, member A). Read More

Eur J Rheumatol 2017 Dec 1;4(4):305-306. Epub 2017 Dec 1.

Department of Internal Medicine, Ufuk University School of Medicine, Ankara, Turkey.

Rocz Panstw Zakl Hig 2017;68(4):409-417

Pomeranian Medical University in Szczecin, Clinic of Gynecology and Urogynecology, Broniewskiego 24, 71-460 Szczecin, Poland

Background: Polycystic ovary syndrome (PCOS) is a disorder often occurring in women at reproductive age. An important factor in PCOS pathogenesis is insulin resistance, which pronounces hyperandrogenism and leads to the development of various metabolic disorders

Objectives: The aim of this study is to determine the effect of reduction diet with low glycemic index (GI) on anthropometric parameters of women with PCOS and the assessment of the effectiveness of the diet on body mass and adipose tissue reduction

Material And Methods: The study was performed on 24 women with PCOS diagnosed with Rotterdam’s criteria. Anthropometric measurements and bioelectrical impedance were performed. Read More

Biochem Biophys Res Commun 2018 01 22;495(3):2257-2263. Epub 2017 Dec 22.

Department of Basic Science & Craniofacial Biology, College of Dentistry, New York University, New York, USA. Electronic address:

During embryogenesis vertebrates develop a complex craniofacial skeleton associated with sensory organs. These structures are primarily derived from two embryonic cell populations the neural crest and cranial placodes, respectively. Neural crest cells and cranial placodes are specified through the integrated action of several families of signaling molecules, and the subsequent activation of a complex network of transcription factors. Read More