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Manger Bernhard B Department of Internal Medicine 3, University of Erlangen-Nuremberg, Ulmenweg 18, D-91054 Erlangen, - - 2014
For patients that present with musculoskeletal symptoms, diagnostic procedures carried out by physicians and rheumatologists are primarily aimed at confirming or excluding the occurrence of primary rheumatic diseases. Another important trigger for musculoskeletal disease, however, is the presence of a tumour. Careful clinical investigation and knowledge of the gestalt of ...
Hillebrand Mathias M Centre of Cardiology and Cardiovascular Surgery, University Medical Centre Hamburg-Eppendorf, Hamburg, - - 2014
Total serum transforming growth factor-beta 1 (tsTGF-β1) is increased in patients with Marfan syndrome (MFS), but it has not been assessed in thoracic aortic aneurysm and dissection (TAAD), Loeys-Dietz syndrome (LDS), and bicuspid aortic valve disease (BAVD). tsTGF-β1 is increased in genetic aortic syndromes including TAAD, LDS, MFS, and BAVD. ...
Nistal Manuel M a Hospital La Paz, Universidad Autónoma de Madrid, - - 2014
Abstract Abstract Enlarged testes in the pediatric age group may be due to variable causes, ranging from tumors to hyperplasias of the many different testicular components. Some forms of macrorchidism are associated with syndromic entities; others represent reactions to hormonal dysregulations, or specific gene mutations. A common consequence of macrorchidism ...
Bedeschi Maria Francesca MF Medical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, - - 2014
Rubinstein-Taybi syndrome (RTS) is a rare multiple congenital anomalies-intellectual disability syndrome. The diagnosis is made after birth and based on the detection of signs such as growth and developmental delay, minor facial anomalies, and broad thumbs and halluces. It is rare to suspect RTS during the prenatal period. We report ...
Haider Agha S AS Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, - - 2014
Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43. We report unique ophthalmic findings ...
Janus Dominika D Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Jagiellonian University Medical College, Krakow, - - 2014
Cerebral salt wasting syndrome (CSW-cerebral salt wasting) was first described in 1950 by Peters. This syndrome can occur in patients who have sustained damage to the central nervous system (e.g. patients with subarachnoid bleeding, bacterial meningitis or after neurosurgery). Patients present with excessive natriuresis and hyponatremic dehydration. Differentiating this syndrome ...
Azzi Salah S INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France; APHP, Armand Trousseau Hospital, Pediatric Endocrinology, Paris, - - 2014
Russell Silver Syndrome (RSS) is a pre- and postnatal growth retardation syndrome caused mainly by 11p15 ICR1 hypomethylation. Clinical presentation is heterogeneous in RSS patients with 11p15 ICR1 hypomethylation. We previously identified a subset of RSS patients with 11p15 ICR1 hypomethylation and multilocus hypomethylation. Here, we examine the relationships between ...
Kotoulas Christophoros C Cardiothoracic Surgery and Cardiology Departments, Iaso General Hospital, Athens, Greece - - 2014
The syndrome of inappropriate secretion of antidiuretic hormone is a disorder of impaired water excretion caused by the inability to suppress secretion of antidiuretic hormone. It has been commonly associated with small cell carcinoma. The association of this syndrome with squamous cell lung carcinoma has rarely been reported, with only ...
Cordeddu Viviana V 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. - - 2014
Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavior and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifications specifically occurring in the former. We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome ...
Kinoshita Yuka Y Division of Nephrology & Endocrinology, Department of Medicine, University of Tokyo Hospital, Tokyo 113-8655, - - 2014
Raine syndrome is an autosomal recessive disorder characterized by generalized osteosclerosis with periosteal bone formation and a distinctive facial phenotype. Either homozygous or compound heterozygous mutations in family with sequence similarity 20, member C (FAM20C) have been reported to cause this syndrome. Recently, it was reported that fibroblast growth factor ...
Calandrelli Rosalinda R Institute of Radiology, Università Cattolica Sacro Cuore, L.go A. Gemelli 8, 00168, Rome, Italy, - - 2014
This study aims to identify the premature synostosis of "major" and "minor" sutures of the four "sutural arches" of the skull and to perform a morphometric analysis in children with syndromic craniosynostosis in order to evaluate changes in the skull base linked with premature suture synostosis. We reviewed multiplanar high-resolution ...
Gray Mary J MJ Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New - - 2014
Parathyroid hormone-like hormone (PTHLH, MIM 168470) is a humoral factor, structurally and functionally related to parathyroid hormone, which mediates multiple effects on chondrocyte, osteoblast and osteoclast function. Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal ...
Khurana Arushi A Department of Internal Medicine, University of Connecticut, Farmington, CT, USA - - 2014
Posterior reversible encephalopathy syndrome features reversible cortical neurologic dysfunction and characteristic findings on brain imaging studies. This syndrome can be caused by several agents including traditional chemotherapy and immunosuppressive drugs. Targeted therapies such as agents binding vascular endothelial growth factor/VEGFR, CD20 and cytotoxic T-cell lymphocyte antigen 4 (CTLA-4) antigens are ...
El Jabbour Tony T Department of Anatomic Pathology, Faculty of Medicine, Lebanese University, Lebanon, - - 2014
Kenny-Caffey syndrome type 1 is a rare hereditary skeletal disorder. We present here a documented case of a 7-month-old girl with the characteristic symptoms of growth retardation, dysmorphic features, and hypoparathyroidism.
Meltem Akkurt Zeynep - - 2014
Background:Netherton syndrome is a rare autosomal recessive disease demonstrating ichthyosis linearis circumflexa, atopic findings, and hair shaft anomalies. Trichorrhexis invaginata is the pathognomonic hair shaft anomaly seen in this syndrome.Objective:In recent years, hair shaft anomalies have been described as "matchstick" and "golf tee" signs. We present a patient with Netherton ...
López Luis C LC Department of Physiology, Faculty of Medicine, University of Granada, Granada, Spain ; Institute of Biotechnology, Biomedical Research Center, University of Granada, Granada, - - 2014
Primary coenzyme Q10 (CoQ10) deficiency is a rare mitochondrial disorder associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) steroid-resistant nephrotic syndrome. Growth retardation, deafness and hearing loss have also been described in CoQ10-deficient patients. This heterogeneity in ...
Quinzii Catarina M CM Department of Neurology, H. Houston Merritt Clinical Research Center, Columbia University Medical Center, New York, N.Y., - - 2014
Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most ...
Odening Katja E KE Heart Center University of Freiburg, Department of Cardiology and Angiology I, Freiburg, Germany. Electronic address: - - 2014
Gender differences in cardiac repolarization and the arrhythmogenic risk of patients with inherited and acquired long-QT syndromes are well appreciated clinically. Enhancing our knowledge of the mechanisms underlying these differences is critical to improve our therapeutic strategies for preventing sudden cardiac death in such patients. This review summarizes the effects ...
Lazier Joanna J Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Calgary, - - 2014
Filippi syndrome is characterized by developmental delay, growth failure, cryptorchidism, bilateral hand and foot syndactyly, and facial dysmorphism. The 2q24q31 contiguous deletion syndrome has similarly been associated with hand and foot anomalies, growth retardation, microcephaly, characteristic facies with a broad prominent nasal root and thin alae nasi, and intellectual disability. ...
Hwang Kyungo - - 2014
Although the syndrome of inappropriate antidiuretic hormone has connection with various malignant tumors, there are few reports associated with advanced gastric cancer. We describe the case of a 63-year-old Korean male with inappropriate antidiuretic hormone syndrome due to an ectopic antidiuretic hormone-producing advanced gastric adenocarcinoma manifested with overt serum hypo-osmolar ...
Zeng Wen-Heng WH Department of Endocrinology and Metabolism, The Second Affiliated Hospital, Zhejiang University School of Medicine , Hangzhou, Zhejiang , - - 2014
Abstract Objective: To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. Case: A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which ...
Dawson Annelise L AL Department of Dermatology, University of California San - - 2014
Buschke-Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may demonstrate both connective tissue components. The disease results from mutations in LEMD3 (MAN1), which lead to enhanced transforming growth factor-β (TGF-β) signaling ...
Casey-Sawicki Kate K *Department of Radiation Oncology, University of Florida Health Cancer Center, Gainesville, FL; †BioPowerTech, 4734 Bluegrass Pkwy, Tuscaloosa, AL 35406; ‡Department of Pharmaceutics, University of Florida, College of Pharmacy, University of Florida, Gainesville, FL; §DiaCarta, LLC, Hayward, CA - - 2014
The effects of fibroblast growth factors and their potential as broad-spectrum agents to treat and mitigate radiation injury have been studied extensively over the past two decades. This report shows that a peptide mimetic of basic fibroblast growth factor (FGF-P) protects and mitigates against acute radiation syndromes. FGF-P attenuates both ...
Dunkel Leo L Barts and the LondonQueen Mary College, William Harvey Research Institute, Centre for Endocrinology, University of London, Charterhouse Square, London EC1M 6BQ, UKEndocrinology Research GroupInstitute of Genetic Medicine, University of Newcastle-upon-Tyne, Times Square, Newcastle NE1 3BZ, - - 2014
Puberty is the period during which we attain adult secondary sexual characteristics and reproductive capability. Its onset depends upon reactivation of pulsative GNRH, secretion from its relative quiescence during childhood, on the background of intact potential for pituitary-gonadal function. This review is intended: to highlight those current practices in diagnosis ...
James Aaron W AW 1Department of Pathology and Laboratory - - 2014
Alagille syndrome is a rare autosomal dominant disorder with characteristic findings of paucity of intrahepatic bile ducts, congenital heart disease, and vertebral, ocular, and renal abnormalities. We present a unique autopsy case of an 18-year-old female with Alagille syndrome and splenic hamartomas. Autopsy findings included growth restriction, Tetralogy of Fallot, ...
Singer Kanakadurga - - 2014
Abstract We describe a 13-year-old male with multiple endocrine neoplasia syndrome type 2B with medullary thyroid carcinoma who was diagnosed with ectopic adrenocorticotropin-dependent Cushing syndrome. This report highlights the importance of monitoring for paraneoplastic syndrome in MEN and clues to the diagnosis of this complication provided by growth patterns.
Tonni Gabriele G Department of Obstetrics & Gynecology, Guastalla Civil Hospital, AUSL Reggio Emilia, - - 2014
The Majewski syndrome or short rib-polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth retardation) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to microcephaly. A case of second trimester ultrasound diagnosis of SRPS type II is reported ...
Rogers Douglas G - - 2014
Abstract A female patient with known Hurler-Scheie syndrome, who underwent hematopoietic cell transplantation, presented with growth retardation and delayed puberty. She started growth hormone (GH) treatment at age 12.33 years, resulting in significantly improved linear growth and predicted adult height. We describe details of her clinical course and literature review ...
Sangu Noriko N Department of Oral and Maxillofacial Surgery, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan; Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, - - 2014
1p36 deletion syndrome is one of the most common subtelomeric deletion syndromes. Obesity is frequently observed in patients with this syndrome. Thus, it is important to evaluate the growth status of an individual patient. For this purpose, we accumulated recorded growth data from 44 patients with this syndrome and investigated ...
Borck Guntram G Institute of Human Genetics, University of Ulm, Ulm, Germany, - - 2014
Athelia is a very rare entity that is defined by the absence of the nipple-areola complex. It can affect either sex and is mostly part of syndromes including other congenital or ectodermal anomalies, such as limb-mammary syndrome, scalp-ear-nipple syndrome, or ectodermal dysplasias. Here, we report on three children from two ...
Koch Sylvia S Department of Dermatology and Allergic Diseases; University of Ulm; Ulm, - - 2014
Mutations in the Cockayne syndrome A (CSA) protein account for 20% of Cockayne syndrome (CS) cases, a childhood disorder of premature aging and early death. Hitherto, CSA has exclusively been described as DNA repair factor of the transcription-coupled branch of nucleotide excision repair. Here we show a novel function of ...
Dror Amiel A AA Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, - - 2014
Thyroid hormone is essential for inner ear development and is required for auditory system maturation. Human mutations in SLC26A4 lead to a syndromic form of deafness with enlargement of the thyroid gland (Pendred syndrome) and non-syndromic deafness (DFNB4). We describe mice with an Slc26a4 mutation, Slc26a4 (loop/loop) , which are ...
Patel Nisha N Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi - - 2014
We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ...
Willis Craig K R CK Department of Biology and Centre for Forest Interdisciplinary Research, University of Winnipeg, Winnipeg, MB, Canada. Electronic address: - - 2014
This article is part of a Special Issue "Energy Balance". Hibernation allows mammals to survive in cold climates and during times of reduced food availability. Drastic physiological changes are required to maintain the energy savings that characterize hibernation. These changes presumably enable adjustments in endocrine activity that control metabolism and ...
Kędzia Andrzej A Department of Clinical Auxology and Pediatric Nursing, Poznan University of Medical Sciences, Poznan, Poland. Head of Department: Ass. Prof. Andrzej - - 2014
Turner's syndrome is a common genetic disorder of girls and women, for which characteristic clinical symptoms encompass short stature, gonadal dysgenesis, systemic defects, multiple dysmorphic features and skin changes, including an increased number of melanocytic nevi, hypertrophic scars and keloids. The affected girls are treated with recombinant human growth hormone ...
Arikoglu Tugba T Mersin University, Faculty of Medicine, Department of Pediatric Allergy and - - 2014
Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a newly described syndrome characterized by severe congenital neutropenia associated with multiple organ abnormalities including cardiac and urogenital malformations. The underlying pathophysiology of increased apoptosis of myeloid cells and of neutrophil dysfunction in G6PC3 deficiency involves disturbed glucose metabolism, increased endoplasmic reticulum stress ...
Yamamoto Masaaki M Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, - - 2014
A novel clinical entity related to autoimmune polygladular syndrome (APS) termed "anti-PIT-1 antibody syndrome" is characterized by a presence of circulating autoantibody against the pituitary-specific transcriptional factor-1 (PIT-1) with acquired specific defect in GH, PRL, and TSH. Although autoimmunity to PIT-1 has been suggested, the underlying mechanisms remain to be ...
Martínez-Juárez Alejandro A Department of Human Genomics, National Institute of Perinatology, Mexico City, - - 2014
Pure partial trisomy 2p patients have rarely been reported. Oligonucleotide array analysis has proved to be important for examining 2p rearrangements to delineate the involved segment and to rule out additional imbalances modifying the phenotype. Here, we report 2 siblings with an unbalanced translocation that led to a partial trisomy ...
Domingos Fernando F Institute of Physiology, Faculty of Medicine, University of Lisbon , Lisbon , Portugal , - - 2014
Abstract Kidney stones and metabolic syndrome (MetS) are common conditions in industrialized countries. There is growing evidence of associations between kidney stone disease and MetS or some of its components. The link between uric acid stones and MetS is well understood, but the link with calcium oxalate (CaOx) stones, the ...
Vinkler Chana C Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel. Electronic address: - - 2014
Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly ...
Shoji Yasuko Y Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, - - 2014
CHARGE syndrome is a congenital disorder caused by mutation of the chromodomain helicase DNA binding protein 7 (CHD7) gene and is characterized by multiple anomalies including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital and/or urological abnormalities, ear anomalies, and hearing loss. In the present study, 76% ...
Dogan Mustafa - - 2014
Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case of Roberts Syndrome brought to the clinic with diarrhoea and multiple abnormalities, that had tetra phocomelia, ...
Goyal Manisha M Senior Research Officer, Department of Pediatrics, Maulana Azad Medical College Associated Lok Nayak Hospital , New Delhi, India - - 2014
The Oromandibular Limb Hypogenesis Syndromes (OLHS) comprises a spectrum of disorders involving the tongue, mandible, and the limbs and are characterized by hypoplastic mandible, absence of the lower incisors, hypoglossia, digits and limbs abnormalities ranges from syndactyly to amelia. In this report, we report a case of OLHS with growth ...
Overvad S S Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, - - 2014
Klinefelter syndrome (KS) is characterized by infertility and hypogonadism associated with increased prevalence of osteoporosis, diabetes and metabolic syndrome. Insulin-like factor 3 (INSL3) is produced in the Leydig cells. INSL3 has been suggested to play a role in bone health. Here, we studied INSL3 in relation to bone markers, body ...
Baiocchi Michela M Pediatrics Clinic of Brescia, Brescia, - - 2014
Beckwith-Wiedemann syndrome (BWS) is caused by dysregulation of imprinted genes on chromosome 11.p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk. No patient who has BWS has been reported with hypopituitarism. We describe a patient who presented at birth with macrosomia, macroglossia, respiratory distress, ...
Qiu W - - 2014
The ubiquitous non-receptor protein tyrosine phosphatase SHP2 (encoded by PTPN11) plays a key role in RAS/ERK signaling downstream of most, if not all growth factors, cytokines and integrins, although its major substrates remain controversial. Mutations in PTPN11 lead to several distinct human diseases. Germ-line PTPN11 mutations cause about 50% of ...
El Kholy Mohamed M Paediatrics Department, Ain Shams University, Cairo, - - 2014
Background/Aim: Growth hormone insensitivity syndrome (GHIS) is a spectrum of disorders. Laron syndrome was the earliest discovered. Insulin-like growth factor 1 (IGF-1) therapy is used to improve growth. IGF-1 has diverse effects on the growth of body organs. We aim to assess the long-term effects of IGF-1 therapy in patients ...
Hernández-Hernández Tania T Posgrado en Ciencias Biológicas, Instituto de Biología, Universidad Nacional Autónoma de México, 3er Circuito de Ciudad Universitaria, Del. Coyoacán, México D.F, 04510, - - 2014
Succulent plants are widely distributed, reaching their highest diversity in arid and semi-arid regions. Their origin and diversification is thought to be associated with a global expansion of aridity. We test this hypothesis by investigating the tempo and pattern of Cactaceae diversification. Our results contribute to the understanding of the ...
Varghese P P Cardiovascular Unit, Division of Medicine, John Hunter Hospital, New Lambton, NSW, - - 2014
Yunis-Varon syndrome is a rare autosomal recessive condition initially characterized by specific skeletal and ectodermal abnormalities, and a poor prognosis, due to neurological and cardiovascular involvement. We describe the cardiovascular and endocrine complications in a 26-year-old man who had been reported previously, adding dilated cardiomyopathy to the clinical features consistent ...
Régal Luc L From the Center of Human Genetics (L.R., J.W.M.C., S.M.), Laboratory of Biochemical Neuroendocrinology, KU Leuven; Department of Pediatrics and Pediatric Metabolic Disorders (C.V.), University Hospital Leuven, Belgium; and Department of Neurology (X.-M.S., D.S., A.G.E.), Mayo Clinic, Rochester, - - 2014
To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. We performed molecular genetic, histochemical, immunoblot, and ultrastructural studies, investigated neuromuscular transmission in vitro in a patient with isolated PREPL deficiency, and evaluated the effect of ...
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