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Approach to short stature

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https://www.readbyqxmd.com/read/28336768/care-of-girls-and-women-with-turner-syndrome-beyond-growth-and-hormones
#1
Caroline Culen, Diana-Allexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2,500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life...
March 23, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28334714/new-genetic-diagnoses-of-short-stature-provide-insights-into-local-regulation-of-childhood-growth%C3%A2
#2
Anenisia C Andrade, Youn Hee Jee, Ola Nilsson
Idiopathic short stature is a common condition with a heterogeneous etiology. Advances in genetic methods, including genome sequencing techniques and bioinformatics approaches, have emerged as important tools to identify the genetic defects in families with monogenic short stature. These findings have contributed to the understanding of growth regulation and indicate that growth plate chondrogenesis, and therefore linear growth, is governed by a large number of genes important for different signaling pathways and cellular functions, including genetic defects in hormonal regulation, paracrine signaling, cartilage matrix, and fundamental cellular processes...
March 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28289431/management-issues-of-congenital-adrenal-hyperplasia-during-the-transition-from-pediatric-to-adult-care
#3
REVIEW
Jin-Ho Choi, Han-Wook Yoo
Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers...
February 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28253515/growth-promotion-ethics-and-the-challenge-to-resist-cosmetic-endocrinology%C3%A2
#4
David B Allen
The advancement of "human growth hormone (hGH)-for-height" - increasing height attainment in children short for reasons other than GH deficiency - arose from intuitive, deep-seated assumptions about the disability of short stature, its improvement with hGH-mediated height gain, and the safety of escalating dosages of hGH in healthy children. Evidence challenging these assumptions now strengthens criticism of hGH-for-height as cosmetic endocrinology. To counter this characterization, collective acceptance of guidelines is needed that advise nontreatment of the vast majority of short children, support strategies that minimize treatment duration and dosage, and restrain enhancement of normal adult stature...
March 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28192847/-gastroparesis-in-noonan-syndrome
#5
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
https://www.readbyqxmd.com/read/28162960/antisense-reduction-of-mutant-comp-reduces-growth-plate-chondrocyte-pathology
#6
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...
March 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28128410/a-rare-case-of-a-boy-with-de-novo-microduplication-at-5q35-2q35-3-from-central-brazil
#7
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
https://www.readbyqxmd.com/read/28043681/long-term-outcome-of-interdisciplinary-management-of-patients-with-duchenne-muscular-dystrophy-receiving-daily-glucocorticoid-treatment
#8
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...
March 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/27964749/truncating-de-novo-mutations-in-the-kr%C3%A3-ppel-type-zinc-finger-gene-znf148-in-patients-with-corpus-callosum-defects-developmental-delay-short-stature-and-dysmorphisms
#9
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
https://www.readbyqxmd.com/read/27884013/guidelines-for-growth-hormone-and-insulin-like-growth-factor-i-treatment-in-children-and-adolescents-growth-hormone-deficiency-idiopathic-short-stature-and-primary-insulin-like-growth-factor-i-deficiency
#10
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
https://www.readbyqxmd.com/read/27721839/effects-of-early-menarche-on-physical-and-psychosocial-health-problems-in-adolescent-girls-and-adult-women
#11
REVIEW
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
https://www.readbyqxmd.com/read/27636099/an-icf-cy-based-approach-to-assessing-self-and-observer-reported-functioning-in-young-persons-with-achondroplasia-development-of-the-pilot-version-of-the-achondroplasia-personal-life-experience-scale-aples
#12
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
https://www.readbyqxmd.com/read/27605097/clinical-and-molecular-findings-in-39-patients-with-kbg-syndrome-caused-by-deletion-or-mutation-of-ankrd11
#13
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
https://www.readbyqxmd.com/read/27604556/a-de-novo-1q23-3-q24-2-deletion-combined-with-a-gorab-missense-mutation-causes-a-distinctive-phenotype-with-cutis-laxa
#14
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
https://www.readbyqxmd.com/read/27598547/pythagoras-and-cosines-the-skin-dural-sac-distance-and-optimal-angles-in-paramedian-spinal-anesthesia
#15
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
https://www.readbyqxmd.com/read/27597923/adenocarcinoma-of-the-right-colon-in-a-patient-with-bloom-syndrome
#16
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
https://www.readbyqxmd.com/read/27506971/is-botulinum-toxin-type-a-a-valuable-adjunct-during-femoral-lengthening-a-randomized-trial
#17
RANDOMIZED CONTROLLED TRIAL
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
https://www.readbyqxmd.com/read/27498533/otological-manifestations-of-turner-syndrome-clinical-and-radiological-findings
#18
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
https://www.readbyqxmd.com/read/27464419/stunted-growth-proceedings-of-the-23rd-aschauer-soiree-held-at-aschauhof-germany-november-7th-2015
#19
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
https://www.readbyqxmd.com/read/27453871/an-unusual-case-of-adolescent-type-2-diabetes-mellitus-prader-willi-syndrome
#20
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
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