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Approach to short stature

Konstantin G Heimrich, Falk Gühne, Solveig Schulz, Stephanie Mutschke, Andreas Stallmach, Jessica Rüddel
We present a case of a 26-year-old female patient with bloating, postprandial nausea and recurrent vomiting after solid food intake. A gastric emptying scintigraphy showed a delayed gastric emptying, defining gastroparesis. Because of her past medical history of short stature and pulmonary stenosis, we initiated genetic counseling where the diagnosis of Noonan syndrome was made. Dietary therapy and medication with domperidone quickly led to relief of the discomfort due to gastroparesis. However, prokinetics are not indicated for long-term therapy, as cardiac arrhythmia may occur...
February 2017: Zeitschrift Für Gastroenterologie
Karen L Posey, Francoise Coustry, Alka C Veerisetty, Mohammad Hossain, Danielle Gattis, Sheri Booten, Joseph L Alcorn, Punit P Seth, Jacqueline T Hecht
Mutations in cartilage oligomeric matrix protein cause pseudoachondroplasia, a severe disproportionate short stature disorder. Mutant cartilage oligomeric matrix protein produces massive intracellular retention of cartilage oligomeric matrix protein, stimulating ER and oxidative stresses and inflammation, culminating in post-natal loss of growth plate chondrocytes, which compromises linear bone growth. Treatments for pseudoachondroplasia are limited because cartilage is relatively avascular and considered inaccessible...
February 3, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
F G Reis, I P Pinto, L B Minasi, A V Melo, D M da C Cunha, C L Ribeiro, C C da Silva, D de M Silva, A D da Cruz
Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic homologous recombination between low copy repeats. In cases where the breakpoints flank the low copy repeats, deletion of chromosomal segments is often followed by reciprocal duplication. Variations in genomic copy number manifest differently, with duplication and deletions of the same genomic region showing opposite phenotypes...
January 23, 2017: Genetics and Molecular Research: GMR
Brenda L Wong, Irina Rybalsky, Karen C Shellenbarger, Cuixia Tian, Mary A McMahon, Meilan M Rutter, Hemant Sawnani, John L Jefferies
OBJECTIVE: To evaluate clinical outcomes and steroid side effects in a cohort of patients with Duchenne muscular dystrophy (DMD) treated with long-term daily glucocorticoid therapy. Although daily glucocorticoid therapy has been shown to extend ambulatory function in DMD, less frequent dosing is often used because of side effect concerns. STUDY DESIGN: Retrospective study of 97 patients with DMD aged 10 to <16 years treated with daily glucocorticoid (89% on deflazacort) for a mean of 8...
December 30, 2016: Journal of Pediatrics
Servi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, Abdallah F Elias, Jaclyn A Haven, Stefan H Lelieveld, Rolph Pfundt, Willy M Nillesen, Helger G Yntema, Kees van Roozendaal, Alexander P Stegmann, Christian Gilissen, Han G Brunner
BACKGROUND: Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors. Only few ZNF genes are currently linked to human disorders and identification of ZNF gene-associated human diseases may help understand their function...
December 13, 2016: Genome Medicine
Adda Grimberg, Sara A DiVall, Constantin Polychronakos, David B Allen, Laurie E Cohen, Jose Bernardo Quintos, Wilma C Rossi, Chris Feudtner, Mohammad Hassan Murad
BACKGROUND/AIMS: On behalf of the Drug and Therapeutics, and Ethics Committees of the Pediatric Endocrine Society, we sought to update the guidelines published in 2003 on the use of growth hormone (GH). Because idiopathic short stature (ISS) remains a controversial indication, and diagnostic challenges often blur the distinction between ISS, GH deficiency (GHD), and primary IGF-I deficiency (PIGFD), we focused on these three diagnoses, thereby adding recombinant IGF-I therapy to the GH guidelines for the first time...
2016: Hormone Research in Pædiatrics
Jae-Ho Yoo
The menarcheal age of Korean women has been rapidly decreasing for the last 50 years, and the average menarcheal age of women born in the 1990s is approaching 12.6 years. In addition, interest in early puberty has been increasing recently owing to the rapid increase in precocious puberty. Generally, out of concern for short stature and early menarche, idiopathic central precocious puberty in female adolescents is treated with gonadotropin-releasing hormone analogs. Studies to date have described the association between early menarche and psychosocial problems such as delinquency and risky sexual behavior, as well as physical health problems such as obesity, diabetes, cardiovascular diseases, and breast cancer throughout the lifespan of women...
September 2016: Korean Journal of Pediatrics
Rachel Sommer, Janika Blömeke, Michaela Dabs, Stefanie Witt, Monika Bullinger, Julia Quitmann
PURPOSE: Achondroplasia is the most common disproportionate short stature which impacts patients' well-being. Little is known about the burden of disease in terms of functioning of patients and few disease-specific patient-reported outcome (PRO) measures exist. To understand the consequences of achondroplasia, the objective of the study was to develop an achondroplasia-specific PRO tool. METHOD: Focus group discussions including 34 German patients (age 8-18 years) and 21 parents were conducted and qualitatively analyzed...
September 16, 2016: Disability and Rehabilitation
Alice Goldenberg, Florence Riccardi, Aude Tessier, Rolph Pfundt, Tiffany Busa, Pierre Cacciagli, Yline Capri, Charles Coutton, Andree Delahaye-Duriez, Thierry Frebourg, Vincent Gatinois, Anne-Marie Guerrot, David Genevieve, Francois Lecoquierre, Aurélia Jacquette, Philippe Khau Van Kien, Bruno Leheup, Sandrine Marlin, Alain Verloes, Vincent Michaud, Gwenael Nadeau, Cyril Mignot, Philippe Parent, Massimiliano Rossi, Annick Toutain, Elise Schaefer, Christel Thauvin-Robinet, Lionel Van Maldergem, Julien Thevenon, Véronique Satre, Laurence Perrin, Catherine Vincent-Delorme, Arthur Sorlin, Chantal Missirian, Laurent Villard, Julien Mancini, Pascale Saugier-Veber, Nicole Philip
KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG syndrome. Among them, 19 were diagnosed after the detection of a 16q24.3 deletion encompassing the ANKRD11 gene by array CGH. In the 20 remaining patients, the clinical suspicion was confirmed by the identification of an ANKRD11 mutation by direct sequencing. We present arguments to modulate the previously reported diagnostic criteria...
November 2016: American Journal of Medical Genetics. Part A
Mohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, Stefan Mundlos, Malte Spielmann, Uwe Kornak, Björn Fischer-Zirnsak
Gerodermia osteodysplastica is a recessive segmental progeroid disorder mainly characterized by wrinkled skin, generalized connective tissue weakness, infantile onset osteoporosis and normal intelligence. Coding mutations in GORAB, localized on chromosome 1q24.2, are the cause of this disease. 1q24 deletions underlie a spectrum of disorders with intellectual disability and ear abnormalities as phenotypic hallmarks. Here we report on an individual from Azerbaijan originating from a non-consanguineous couple showing short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability...
September 8, 2016: Journal of Human Genetics
Anna Puigdellívol-Sánchez, Miguel A Reina, Xavier Sala-Blanch, Jaume Pomés-Talló, Alberto Prats-Galino
The classical recommendation for paramedian approaches is needle insertion 1-2 cm paramedian and an angle of 10°-15° medial-cephalad to the plane of the back, but contact with vertebrae is frequent. A mathematical approach to individualizing punctures is proposed on the basis of skin-dural sac distance (d): Optimal angle ∼ inverse cosine [d/ √(1+d^2) ] and the distance covered by the needle ∼ √(1+d^2) for 1 cm paramedian punctures. The inferred angles were compared to optimal angles leading to the central dorsal part of the dural sac from 1 to 2 cm paramedian, measured by Magnetic Resonance Imaging (MRI) in seven cases and in a short stature volunteer (1...
November 2016: Clinical Anatomy
Carlos Augusto Real Martinez, Lilian Vital Pinheiro, Debora Helena Rossi, Michel Gardere Camargo, Maria de Lourdes Setsuko Ayrizono, Raquel Franco Leal, Cláudio Saddy Rodrigues Coy
Introduction. Bloom syndrome (BS) is an inherited disorder due to mutation in BLM gene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and an increased risk of cancer at an early age. Clinical manifestations also include short stature, dolichocephaly, prominent ears, micrognathia, malar hypoplasia and a high-pitched voice, immunodeficiency, type II diabetes, and hypogonadism associated with male infertility and female subfertility...
2016: Case Reports in Surgery
Hoon Park, Soowan Shin, Han Sol Shin, Hyun Woo Kim, Dong Wook Kim, Dong Hoon Lee
BACKGROUND: Reduced joint ROM and distraction-induced pain are common complaints of patients who have undergone gradual femoral lengthening. Attempts to reduce the effects of lengthening on joint motion have included the use of botulinum toxin to reduce the muscle forces that restrict motion. The benefits of this approach during femoral lengthening, however, have not been conclusively established. QUESTIONS/PURPOSES: We wished to evaluate the effects of botulinum toxin type A (BtX-A) injection in the anterior thigh muscles during femoral distraction osteogenesis on adjacent joint ROM and distraction-induced pain...
December 2016: Clinical Orthopaedics and related Research
Dragoslava Đerić, Zoran Dudvarski, Ljiljana Cvorović
INTRODUCTION: Turner syndrome is a chromosomal abnormality where all or a part of one of the X chromosomes is absent or it has other abnormalities. Besides characteristic abnormalities of short stature and infertility, women with Turner syndrome have increased risks for tumors of the central nervous system, especially meningioma and an otologic disease. Meningioma involving the middle ear is extremely rare, and this condition has never been published in association with Turner syndrome...
January 2016: Medicinski Pregled
Michael Hermanussen, Josefin Ipsen, Rebekka Mumm, Christian Assmann, Julia Quitmann, Aleksandra Gomula, Andreas Lehmann, Isabelle Jasch, Vincent Tassenaar, Barry Bogin, Takashi Satake, Christiane Scheffler, Javier Núñez, Elena Godina, Rüdiger Hardeland, Jesper Boldsen, Mortada El-Shabrawi, Mona Elhusseini, Carmen Gabriela Barbu, Ralucca Pop, Jani Söderhäll, Andrea Merker, James Swanson, Detlef Groth
Twenty-four scientists met at Aschauhof, Altenhof, Germany, to discuss the associations between child growth and development, and nutrition, health, environment and psychology. Meta-analyses of body height, height variability and household inequality, in historic and modern growth studies published since 1794, highlighting the enormously flexible patterns of child and adolescent height and weight increments throughout history which do not only depend on genetics, prenatal development, nutrition, health, and economic circumstances, but reflect social interactions...
June 2016: Pediatric Endocrinology Reviews: PER
Riyas Basheer, Muhammed Jasim Abdul Jalal, Ramesh Gomez
Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents...
January 2016: Journal of Family Medicine and Primary Care
Maojia Xu, Eva-Lena Stattin, Georgina Shaw, Dick Heinegård, Gareth Sullivan, Ian Wilmut, Alan Colman, Patrik Önnerfjord, Areej Khabut, Anders Aspberg, Peter Dockery, Timothy Hardingham, Mary Murphy, Frank Barry
UNLABELLED: : Familial osteochondritis dissecans (FOCD) is an inherited skeletal defect characterized by the development of large cartilage lesions in multiple joints, short stature, and early onset of severe osteoarthritis. It is associated with a heterozygous mutation in the ACAN gene, resulting in a Val-Met replacement in the C-type lectin domain of aggrecan. To understand the cellular pathogenesis of this condition, we studied the chondrogenic differentiation of patient bone marrow mesenchymal stromal cells (BM-MSCs)...
September 2016: Stem Cells Translational Medicine
Christopher J Romero, Lakshmi Mehta, Robert Rapaport
Normal growth is a complex dynamic process dependent on the coordination of multiple factors including genetics, nutrition and hormones that are all working in balance. This chapter will review selected features of commonly utilized genetic techniques such as chromosomal analysis, microarray analysis, targeted gene screening and whole exome sequencing that are being used to identify genes influencing growth. As genetic technologies continue to improve and become more accessible many of these techniques will help to provide a better understanding of mechanisms underlying abnormal growth and will eventually lead to novel management approaches for abnormal growth...
June 2016: Endocrinology and Metabolism Clinics of North America
Krzysztof Mikołajczak, Piotr Ogrodowicz, Kornelia Gudyś, Karolina Krystkowiak, Aneta Sawikowska, Wojciech Frohmberg, Andrzej Górny, Andrzej Kędziora, Janusz Jankowiak, Damian Józefczyk, Grzegorz Karg, Joanna Andrusiak, Paweł Krajewski, Iwona Szarejko, Maria Surma, Tadeusz Adamski, Justyna Guzy-Wróbelska, Anetta Kuczyńska
In response to climatic changes, breeding programmes should be aimed at creating new cultivars with improved resistance to water scarcity. The objective of this study was to examine the yield potential of barley recombinant inbred lines (RILs) derived from three cross-combinations of European and Syrian spring cultivars, and to identify quantitative trait loci (QTLs) for yield-related traits in these populations. RILs were evaluated in field experiments over a period of three years (2011 to 2013) and genotyped with simple sequence repeat (SSR) and single nucleotide polymorphism (SNP) markers; a genetic map for each population was constructed and then one consensus map was developed...
2016: PloS One
Tatiane Géa-Horta, Rita de Cássia Ribeiro Silva, Rosemeire Leovigildo Fiaccone, Maurício Lima Barreto, Gustavo Velásquez-Meléndez
OBJECTIVE: To estimate factors associated with double burden of nutritional outcomes in the mother-child dyad at the household level (child stunting and/or maternal overweight). DESIGN: Cross-sectional study using the Brazilian Demographic and Health Survey. Nutritional outcomes were: mother with normal weight and child with normal height; overweight mother and child with normal height; mother with normal weight and short-stature child; and overweight mother and child with short stature (double burden)...
October 2016: Public Health Nutrition
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