Search Our Scientific Publications & Authors

World Neurosurg 2019 Feb 11. Epub 2019 Feb 11.

Seattle Science Foundation, Seattle, WA, USA; Department of Anatomical Sciences, St. George's University, Grenada, West Indies.

Superior cluneal nerve entrapment neuropathy is one cause of low back pain often referred to as "pseudosciatica." Studies have found that the superior cluneal nerve can arise variably from the T11 to L5. The osteofibrous tunnels formed by a groove on the iliac crest might compress the superior cluneal nerve. Read More

Klin Monbl Augenheilkd 2019 Feb 8. Epub 2019 Feb 8.

Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes UKS, Homburg/Saar.

To control the development of the ocular phenotype, several coordinated steps of temporally- and spatially-organized networked triggers (inductions) are necessary. This is regulated at the level of transcription. Crucial here are the so-called master genes or DNA-binding transcription factors PAX6, FOXC1, SOX2, FOXE3, OTX2, PITX2 and PAX2. Read More

Reumatol Clin 2019 Jan 25. Epub 2019 Jan 25.

Oftalmología, Hospital Universitario San Agustín, Avilés, Asturias, España.

Systemic sclerosis is a connective tissue pathology with very heterogeneous clinical manifestations, associated in a small percentage with inflammatory eye diseases. In the specific case of uveitis, only isolated cases have been reported in the literature, especially in relation to the CREST syndrome. We present the case of a 53-year-old woman with CREST syndrome and chronic anterior uveitis, which we consider of clinical relevance given its low prevalence. Read More

Sci Rep 2019 Jan 24;9(1):597. Epub 2019 Jan 24.

Institut für Molekulare Zellbiologie, Westfälische Wilhelms-Universität Münster, 48149, Münster, Germany.

We investigated the physiological functions of Myo10 (myosin X) using Myo10 reporter knockout (Myo10) mice. Full-length (motorized) Myo10 protein was deleted, but the brain-specific headless (Hdl) isoform (Hdl-Myo10) was still expressed in homozygous mutants. In vitro, we confirmed that Hdl-Myo10 does not induce filopodia, but it strongly localized to the plasma membrane independent of the MyTH4-FERM domain. Read More

Dermatol Online J 2018 Dec 15;24(12). Epub 2018 Dec 15.

The Ronald O. Perelman Department of Dermatology, New York University Langone Health, New York, New York Yale University School of Medicine, New Haven, Connecticut.

Calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome is a form of a rare, clinical subtype of systemic sclerosis, known as limited systemic sclerosis. Limited systemic sclerosis, including CREST syndrome, manifests as fibrotic skin changes restricted to the hands and face, with vascular, musculoskeletal, and visceral involvement. We present a case of a 75-year-old woman with a longstanding history of CREST syndrome complicated by a digital ulceration and persistent pain associated with recalcitrant Raynaud phenomenon. Read More

Transl Psychiatry 2019 Jan 15;9(1). Epub 2019 Jan 15.

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic component. Although next-generation sequencing (NGS) technologies have been successfully applied to gene identification in de novo ASD, the genetic architecture of familial ASD remains largely unexplored. Our approach, which leverages the high specificity and sensitivity of NGS technology, has focused on rare variants in familial autism. Read More

Malawi Med J 2018 06;30(2):127-131

Consultant Trauma and Orthopaedic Surgeon; Dean of Faculty of Medicine, College of Medicine, University of Malawi.

Introduction: Grisel syndrome is a non-traumatic rotary subluxation of C1 on C2 (atlantoaxial subluxation). It is a rare condition predominantly described in paediatric population with previous history of upper respiratory infections orotolaryngeal procedures. The diagnosis is established by the association of clinical and radiologic findings4,6. Read More

J Clin Invest 2019 02 7;129(2):659-675. Epub 2019 Jan 7.

McKusick-Nathans Institute of Genetic Medicine.

The aortic root is the predominant site for development of aneurysm caused by heterozygous loss-of-function mutations in positive effectors of the transforming growth factor-β (TGF-β) pathway. Using a mouse model of Loeys-Dietz syndrome (LDS) that carries a heterozygous kinase-inactivating mutation in TGF-β receptor I, we found that the effects of this mutation depend on the lineage of origin of vascular smooth muscle cells (VSMCs). Secondary heart field-derived (SHF-derived), but not neighboring cardiac neural crest-derived (CNC-derived), VSMCs showed impaired Smad2/3 activation in response to TGF-β, increased expression of angiotensin II (AngII) type 1 receptor (Agtr1a), enhanced responsiveness to AngII, and higher expression of TGF-β ligands. Read More

Genesis 2019 01 21;57(1):e23278. Epub 2019 Jan 21.

Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada, Faculty of Medicine, Hebrew University, Jerusalem, Israel.

Fetal Alcohol Spectrum Disorder (FASD) is a set of neurodevelopmental malformations caused by maternal consumption of alcohol during pregnancy. FASD sentinel facial features are unique to the disorder, and microcephaly is common in severe forms of FASD. Retinoic acid deficiency has been shown to cause craniofacial malformations and microcephaly in animal models reminiscent of those caused by prenatal alcohol exposure. Read More

Cell Stem Cell 2019 Jan 20;24(1):166-182.e13. Epub 2018 Dec 20.

Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM gGmbH), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany; Division of Stem Cells and Cancer, German Cancer Research Center (DKFZ), and DKFZ-ZMBH Alliance, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany; German Cancer Consortium (DKTK), 69120 Heidelberg, Germany. Electronic address:

We report the direct reprogramming of both adult human fibroblasts and blood cells into induced neural plate border stem cells (iNBSCs) by ectopic expression of four neural transcription factors. Self-renewing, clonal iNBSCs can be robustly expanded in defined media while retaining multilineage differentiation potential. They generate functional cell types of neural crest and CNS lineages and could be used to model a human pain syndrome via gene editing of SCN9A in iNBSCs. Read More

Eur J Med Genet 2018 Dec 21. Epub 2018 Dec 21.

Medical Genetics Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Lebanon; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Lebanon. Electronic address:

Transcription Factor AP-2 Beta (TFAP2B) functions in the differentiation of neural crest cell derivatives and contributes to the embryogenesis of the ductus arteriosus. Mutations of TFAP2B produces Char syndrome. Char syndrome is an autosomal dominant disorder comprising facial dysmorphism, hand anomalies, and patent ductus arteriosus (PDA). Read More

J Clin Imaging Sci 2018 15;8:44. Epub 2018 Nov 15.

Department of Radiology, University of Kentucky, Kentucky, USA.

Waardenburg syndrome (WS) is a rare genetic disorder secondary to neural crest cell developmental abnormalities. It is predominantly described as an auditory-pigmentary syndrome with diverse patient presentation, typically involving congenital sensorineural hearing loss and pigmentation abnormalities of the skin, hair, and iris. Other developmental abnormalities that may be associated with this syndrome are Hirschsprung's disease and a myriad of cardiovascular congenital defects. Read More

Neuroimage Clin 2018 Nov 27. Epub 2018 Nov 27.

Department of Psychiatry, Psychiatry Neuroimaging Laboratory, Brigham and Women's Hospital, Harvard Medical School, Zora Kikinis, 1249 Boylston Street, Boston, MA 02215, USA; Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Background: 22q11.2 Deletion Syndrome (22q11DS) is a genetic, neurodevelopmental disorder characterized by a chromosomal deletion and a distinct cognitive profile. Although abnormalities in the macrostructure of the cortex have been identified in individuals with 22q11DS, it is not known if there are additional microstructural changes in gray matter regions in this syndrome, and/or if such microstructural changes are associated with cognitive functioning. Read More

Int Immunol 2018 Dec 10. Epub 2018 Dec 10.

Division of Innate Immunity, Department of Microbiology and Immunology, Institute of Medical Science, University of Tokyo, Minato-ku, Tokyo, Japan.

Toll-like receptor 8 (TLR8), a sensor for pathogen-derived single-stranded RNA (ssRNA), binds to uridine (Uri) and ssRNA to induce defense responses. We here show that cytidine (Cyd) with ssRNA also activated TLR8 in peripheral blood leukocytes (PBLs) and a myeloid cell line U937, but not in an embryonic kidney cell line 293T. Cyd deaminase (CDA), an enzyme highly expressed in leukocytes, deaminates Cyd to Uri. Read More

Appl Clin Genet 2018 15;11:135-144. Epub 2018 Nov 15.

Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA,

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine's curse, is due to a mutation in the gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Read More

Cell Signal 2019 Feb 8;54:130-138. Epub 2018 Dec 8.

Department of Otolaryngology, Emory University, Atlanta, GA, USA. Electronic address:

During craniofacial development, cranial neural crest (CNC) cells migrate into the developing face and form bone through intramembranous ossification. Loss of JAGGED1 (JAG1) signaling in the CNC cells is associated with maxillary hypoplasia or maxillary bone deficiency (MBD) in mice and recapitulates the MBD seen in humans with Alagille syndrome. JAGGED1, a membrane-bound NOTCH ligand, is required for normal craniofacial development, and Jagged1 mutations in humans are known to cause Alagille Syndrome, which is associated with cardiac, biliary, and bone phenotypes and these children experience increased bony fractures. Read More

J Curr Glaucoma Pract 2018 May-Aug;12(2):94-98. Epub 2018 Aug 1.

Senior Resident, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

Aim: To report a case of bilateral phacomatosis pigmentovascularis (PPV), in a young male,presenting with developmental glaucoma and high myopia along with systemic features of klippel trenanauy weber (KTW) syndrome.

Background: The co-existence of oculodermal melanocytosis (ODM)and port-wine stain was termed PPV by Ota. Port-wine stain presents as part of Sturge-Weber syndrome (SWS). Read More

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France. Electronic address:

The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls cranial neural crest cell delamination during facial morphogenesis. SPECC1L causative variants were first identified in individuals with oblique facial clefts. Read More

Foot Ankle Int 2018 Nov 22:1071100718811632. Epub 2018 Nov 22.

1 Department of Surgery, Máxima Medical Center, Veldhoven, the Netherlands.

Background:: Up to 8% of patients who underwent a fasciotomy for leg anterior chronic exertional compartment syndrome (ant-CECS) report sensory deficits suggestive of iatrogenic superficial peroneal nerve (SPN) injury. In the current study we aimed to thoroughly assess the risk of SPN injury during a semiblind fasciotomy of the anterior compartment using 2 separate approaches.

Methods:: A modified semiblind fasciotomy of the anterior compartment was performed via a longitudinal 2-cm skin incision 2 cm lateral of the anterior tibial crest halfway along the line fibular head-lateral malleolus both in cadaver legs and in patients with ant-CECS. Read More

Front Physiol 2018 25;9:1484. Epub 2018 Oct 25.

Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI, United States.

Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic disorder. Affected patients present a wide spectrum of symptoms including short stature, postaxial polydactyly, and dental abnormalities. We previously disrupted , one of the causative genes for EvC syndrome, in mice using a neural crest-specific, -mediated approach (i. Read More

PLoS One 2018 8;13(11):e0207251. Epub 2018 Nov 8.

Developmental Biology of Birth Defects, UCL Institute of Child Health, London, United Kingdom.

The CXCL12-CXCR4 pathway has crucial roles in stem cell homing and maintenance, neuronal guidance, cancer progression, inflammation, remote-conditioning, cell migration and development. Recently, work in chick suggested that signalling via CXCR4 in neural crest cells (NCCs) has a role in the 22q11.2 deletion syndrome (22q11. Read More

Clin Genet 2018 Nov 5. Epub 2018 Nov 5.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole-exome sequencing. Thirteen of these families were clinically diagnosed with WS and one family with isolated non-syndromic hearing loss (NSHL). Read More

Elife 2018 10 25;7. Epub 2018 Oct 25.

Department of Stem Cell Biology and Regenerative Medicine, University of Southern California, Los Angeles, United States.

Cranial sutures separate the skull bones and house stem cells for bone growth and repair. In Saethre-Chotzen syndrome, mutations in or ablate a specific suture, the coronal. This suture forms at a neural-crest/mesoderm interface in mammals and a mesoderm/mesoderm interface in zebrafish. Read More

Stem Cells Dev 2019 Jan 18;28(2):81-100. Epub 2018 Dec 18.

1 Anne McLaren Laboratory, Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Department of Medicine, University of Cambridge, Cambridge, United Kingdom.

The neural crest (NC) is a transient multipotent cell population present during embryonic development. The NC can give rise to multiple cell types and is involved in a number of different diseases. Therefore, the development of new strategies to model NC in vitro enables investigations into the mechanisms involved in NC development and disease. Read More

Genesis 2019 01 21;57(1):e23259. Epub 2018 Dec 21.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, 45229.

A recent convergence of technological innovations has re-energized the ability to apply genetics to research in human craniofacial development. Next-generation exome and whole genome sequencing have significantly dropped in price, making it relatively trivial to sequence and analyze patients and families with congenital craniofacial anomalies. A concurrent revolution in genome editing with the use of the CRISPR-Cas9 system enables the rapid generation of animal models, including mouse, which can precisely recapitulate human variants. Read More

Sci Rep 2018 Oct 26;8(1):15855. Epub 2018 Oct 26.

Department of Hematology and Oncology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

Chronic myelomonocytic leukemia (CMML) is an entity of myelodysplastic syndrome/myeloproliferative neoplasm. Although CMML can be cured with allogeneic stem cell transplantation, its prognosis is generally very poor due to the limited efficacy of chemotherapy and to the patient's age, which is usually not eligible for transplantation. Comprehensive analysis of CMML pathophysiology and the development of therapeutic agents have been limited partly due to the lack of cell lines in CMML and the limited developments of mouse models. Read More

Best Pract Res Clin Gastroenterol 2018 Jun - Aug;34-35:49-54. Epub 2018 May 23.

Dept. of Surgery, Oncology and Gastroenterology, University of Padova, Italy.

Patients with PBC have at least 60% of probability to have an autoimmune extrahepatic condition. The pathogenesis of these conditions includes a common mechanism involving both innate and adaptive immune responses targeting cholangiocytes and different extrahepatic tissues. The recent EASL guidelines recommend the management of these conditions, although detailed practical treatments have not been indicated. Read More

Hum Mol Genet 2019 Feb;28(3):501-514

Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY, USA.

The extracellular signal-related kinase 1 and 2 (ERK1/2) pathway is a highly conserved signaling cascade with numerous essential functions in development. The scaffold protein Shoc2 amplifies the activity of the ERK1/2 pathway and is an essential modulator of a variety of signaling inputs. Germline mutations in Shoc2 are associated with the human developmental disease known as the Noonan-like syndrome with loose anagen hair. Read More

BMC Ophthalmol 2018 Oct 11;18(1):266. Epub 2018 Oct 11.

Department of Ophthalmology, The Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, 211, Eonjuro, Gangnam-gu, Seoul, 06273, Korea.

Background: Waardenburg syndrome (WS) is a very rare genetic disorder affecting the neural crest cells. Coexistence of branch retinal vein occlusion (BRVO) and branch retinal artery occlusion (BRAO) in the same eye is also a rare finding. Here we report a case of WS type 1 that was confirmed by a novel mutation with the finding of unilateral BRVO and BRAO. Read More

Int J Surg Case Rep 2018 1;52:16-19. Epub 2018 Oct 1.

Department of Endocrine Surgery, Cleveland Clinic, 9500 Euclid Ave., Cleveland, Ohio, 44195, United States.

Introduction: Biliary system paragangliomas are rare neuroendocrine tumors of embryonic neural crest origin. The majority is asymptomatic and incidentally found due to gallbladder functional disorders. Herein, we present a non-functional, 2. Read More

Dev Biol 2018 Oct 5. Epub 2018 Oct 5.

The Children's Hospital of Philadelphia Research Institute, 3615 Civic Center Blvd, Abramson Research Center - Suite # 1116I, Philadelphia, PA 19104-4318, United States; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104-4318, United States. Electronic address:

Transcription factors that coordinate migration, differentiation or proliferation of enteric nervous system (ENS) precursors are not well defined. To identify novel transcriptional regulators of ENS development, we performed microarray analysis at embryonic day (E) 17.5 and identified many genes that were enriched in the ENS compared to other bowel cells. Read More

PLoS Genet 2018 10 4;14(10):e1007675. Epub 2018 Oct 4.

Department of Anatomy and Cell Biology, and the Craniofacial Anomalies Research Center, Carver College of Medicine, The University of Iowa, Iowa City, IA, United States of America.

The mechanisms that regulate post-natal growth of the craniofacial complex and that ultimately determine the size and shape of our faces are not well understood. Hippo signaling is a general mechanism to control tissue growth and organ size, and although it is known that Hippo signaling functions in neural crest specification and patterning during embryogenesis and before birth, its specific role in postnatal craniofacial growth remains elusive. We have identified the transcription factor FoxO6 as an activator of Hippo signaling regulating neonatal growth of the face. Read More

Asian J Neurosurg 2018 Jul-Sep;13(3):881-884

Department of Pathology, Government Medical College, Thiruvananthapuram, Kerala, India.

Melanotic schwannomas (MS) are rare variants of schwannomas the occurrence of which is described in case reports only. They usually arise from posterior spinal nerve roots and less commonly from other cells of neural crest origin. Although they are relatively benign tumors in young, aggressive behavior is reported. Read More

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Aug;32(16):1207-1212

Int J Low Extrem Wounds 2018 Dec 1;17(4):282-284. Epub 2018 Oct 1.

1 Department of Dermatology, Kocaeli University School of Medicine, Kocaeli, Turkey.

Leg ulcers are not a disease themselves, they are a symptom of a disease. To manage them properly, finding the correct diagnosis of the disease is mandatory. Our case is a model to underline that leg ulcers are a significant burden for the patient, because leg ulcer got ahead of the patient's other serious complaints such as Raynaud's phenomenon or sclerodactyly. Read More

J Cardiovasc Dev Dis 2018 Sep 23;5(4). Epub 2018 Sep 23.

UCL Great Ormond Street-Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

Haploinsufficiency of the T-box transcription factor is responsible for many features of 22q11.2 deletion syndrome. is expressed dynamically in the pharyngeal apparatus during mouse development and homozygous mutants display numerous severe defects including abnormal cranial ganglion formation and neural crest cell defects. Read More

Transcription 2019 02 20;10(1):21-28. Epub 2018 Sep 20.

a Laboratoire de génétique moléculaire du développement, Département des sciences biologiques , Université du Québec à Montréal (UQAM) , Montréal , QC , Canada.

CHARGE syndrome is characterized by co-occurrence of multiple malformations due to abnormal development of neural crest cells. Here, we review the phenotypic and molecular overlap between CHARGE syndrome and similar pathologies, and further discuss the observation that neural crest cells appear especially sensitive to malfunction of the chromatin-transcription-splicing molecular hub. Read More

J Dent Res 2018 Nov 11;97(12):1297-1305. Epub 2018 Sep 11.

1 Department of Oral and Craniomaxillofacial Surgery, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Hemifacial microsomia (HFM) is a common congenital malformation of the craniofacial region. There are 3 possible pathogenic models of HFM-vascular abnormality and hemorrhage in the craniofacial region, damage to Meckel's cartilage, and the abnormal development of cranial neural crest cells-and the most plausible hypothesis is the vascular abnormality and hemorrhage model. These 3 models are interrelated, and none of them is completely concordant with all the variable manifestations of HFM. Read More

J Assist Reprod Genet 2018 Dec 7;35(12):2173-2180. Epub 2018 Sep 7.

Department of Obstetrics and Gynecology, University of Colorado, Aurora, CO, USA.

Purpose: To compare saline infusion sonohysterography (SIS) versus hysterosalpingogram (HSG) for confirmation of tubal patency.

Methods: Secondary analysis of a randomized controlled trial, Pregnancy in Polycystic Ovary Syndrome II (PPCOS II). Seven hundred fifty infertile women (18-40 years old) with polycystic ovary syndrome (PCOS) were randomized to up to 5 cycles of letrozole or clomiphene citrate. Read More

Surg Neurol Int 2018 14;9:166. Epub 2018 Aug 14.

Department of Neurosurgery, Dubrava University Hospital, Zagreb, Croatia.

Background: Subcutaneous calcinosis is a well-recognized manifestation of systemic sclerosis that usually involves multiple pressure points and may also be found in the paraspinal or intraspinal regions. In this case, intraspinal calcinosis uniquely led to a severe neurological deficit.

Case Description: A patient with severe systemic sclerosis/calcinosis exhibited left greater than right lower extremity radiculopathy attributed to intraspinal left-sided L4-L5 calcinosis. Read More

Front Vet Sci 2018 27;5:171. Epub 2018 Jul 27.

Department of Veterinary Medicine, Faculty of Health and Medical Sciences, University of Surrey, Guildford, United Kingdom.

Chiari-like Malformation (CM) and secondary syringomyelia (SM), as well as their analogous human conditions, is a complex developmental condition associated with pain and accompanying welfare concerns. CM/SM is diagnosed ever more frequently, thanks in part to the increased availability of magnetic resonance imaging in veterinary medicine. Research over the last two decades has focused primarily on its pathophysiology relating to overcrowding of the cranial caudal fossa. Read More

J Clin Sleep Med 2018 Aug 15;14(8):1427-1430. Epub 2018 Aug 15.

Sleep Medicine Center Kempenhaeghe, Heeze, The Netherlands.

Abstract: We report an unusual case of an adult patient carrying a germline frameshift mutation and hence was diagnosed with congenital central hypoventilation syndrome. He came to medical attention after the mutation was identified in his daughter who presented with hypoventilation and a neuroblastoma. Although mutations are usually associated with a phenotype of congenital hypoventilation, severe autonomic dysfunction and neural crest tumors, our patient had no complaints at the time of presentation. Read More

Pediatr Rep 2018 May 24;10(2):7500. Epub 2018 May 24.

First Department of Surgery.

Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer from functional intestinal obstruction. When it is Hirschsprung disease (HD), the WS is diagnosed as type 4 WS. Read More

Proc Natl Acad Sci U S A 2018 08 30;115(33):E7768-E7775. Epub 2018 Jul 30.

Department of Biomedicine, Aarhus University, 8000 Aarhus C, Denmark;

The adaptor molecule stimulator of IFN genes (STING) is central to production of type I IFNs in response to infection with DNA viruses and to presence of host DNA in the cytosol. Excessive release of type I IFNs through STING-dependent mechanisms has emerged as a central driver of several interferonopathies, including systemic lupus erythematosus (SLE), Aicardi-Goutières syndrome (AGS), and stimulator of IFN genes-associated vasculopathy with onset in infancy (SAVI). The involvement of STING in these diseases points to an unmet need for the development of agents that inhibit STING signaling. Read More

Rev Gastroenterol Mex 2018 Jul 13. Epub 2018 Jul 13.

Departamento de Reumatología, Centro Médico ISSEMyM, Metepec, México.

Introduction: Several groups have reported associations of primary biliary cholangitis with other autoimmune entities, particularly Sjögren's syndrome and hypothyroidism. Its prevalence and characteristics in Mexican patients is unknown.

Aim: To determine the frequency and characteristics of autoimmune diseases in a Mexican cohort of patients with primary biliary cholangitis. Read More

Psychogeriatrics 2018 Sep 10;18(5):430-433. Epub 2018 Jul 10.

Department of Psychiatry, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.

A 57-year-old woman who had been arrested for shoplifting visited our hospital. She was diagnosed with kleptomania. She had previously been diagnosed with CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome and obsessive-compulsive disorder. Read More

Indian J Nephrol 2018 May-Jun;28(3):226-228

Department of Nephrology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of hearing loss, pigmentary anomalies, and defects of other neural crest cell-derived structures. The association of WS with renal anomalies has been described in the literature. However, nephrotic syndrome is a very rare association with WS, and only one case has been reported in the literature. Read More

BMC Biol 2018 06 28;16(1):64. Epub 2018 Jun 28.

Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109, USA.

Background: Domesticated from gray wolves between 10 and 40 kya in Eurasia, dogs display a vast array of phenotypes that differ from their ancestors, yet mirror other domesticated animal species, a phenomenon known as the domestication syndrome. Here, we use signatures persisting in dog genomes to identify genes and pathways possibly altered by the selective pressures of domestication.

Results: Whole-genome SNP analyses of 43 globally distributed village dogs and 10 wolves differentiated signatures resulting from domestication rather than breed formation. Read More

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