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https://www.readbyqxmd.com/read/29344653/a-novel-variant-of-osteogenesis-imperfecta-type-iv-and-low-serum-phosphorus-level-caused-by-a-val94asp-mutation-in-col1a1
#1
Qi Yang, Hong Xu, Jinsi Luo, Qinle Zhang, Bobo Xie, Sheng Yi, Xiuliang Rong, Jin Wang, Zailong Qin, Tingting Jiang, Li Lin, Yangjin Zuo, Xin Fan
Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue‑gray eye sclera. OI is caused by a heterozygous mutation in collagen α‑1(I) chain (COL1A1) or collagen α‑2(I) chain (COL1A2) genes that encode α chains of type I collagen. Collagen α chain peptide contains an N‑propeptide, which has a role in assembly and processing of collagen. Point mutations in the N‑propeptide domain appear to trigger OI...
January 16, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29344338/current-best-practice-in-the-management-of-turner-syndrome
#2
REVIEW
Roopa Kanakatti Shankar, Philippe F Backeljauw
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities...
January 2018: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29341437/phenotypic-heterogeneity-of-zmpste24-deficiency
#3
Thomas A Cassini, Amy K Robertson, Anna G Bican, Joy D Cogan, Vickie L Hannig, John H Newman, Rizwan Hamid, John A Phillips
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in ZMPSTE24 which predicts p.(Leu362fsX18). ZMPSTE24 is a zinc metalloproteinase that is involved in processing farnesylated proteins and pathogenic ZMPSTE24 variants cause accumulation of abnormal farnesylated forms of prelamin A...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29339779/novel-recessive-mutations-in-msto1-cause-cerebellar-atrophy-with-pigmentary-retinopathy
#4
Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama, Chihiro Ohba, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto
Misato 1, mitochondrial distribution and morphology regulator (encoded by the MSTO1 gene), is involved in mitochondrial distribution and morphology. Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. Both autosomal dominant and recessive modes of inheritance have been suggested. We performed whole-exome sequencing in two unrelated patients showing cerebellar atrophy, intellectual disability, and pigmentary retinopathy...
January 16, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29332064/recurrent-intragenic-duplication-within-the-nr5a1-gene-and-severe-proximal-hypospadias
#5
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, Marie Legendre, Maud Chabaud, Marie-Dominique Bouvier, Georges Audry, Serge Amselem, Jean-Pierre Siffroi
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29330548/shox-haploinsufficiency-presenting-with-isolated-short-long-bones-in-the-second-and-third-trimester
#6
Shwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, Cheryl Ellis, Renata Hutt, Lesley Roberts, Rosol Hamid, Aris Papageorghiou, Sahar Mansour
Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of SHOX haploinsufficiency was distinct in each case...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29326517/18p-deletion-syndrome-case-report-with-clinical-consideration-and-management
#7
Megha Goyal, Mayuri Jain, Sachin Singhal, Kirty Nandimath
18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29323153/skeletal-characterization-of-the-fgfr3-mouse-model-of-achondroplasia-using-micro-ct-and-mri-volumetric-imaging
#8
Mohammed Salman Shazeeb, Megan K Cox, Anurag Gupta, Wen Tang, Kuldeep Singh, Cynthia T Pryce, Robert Fogle, Ying Mu, William D Weber, Dinesh S Bangari, Xiaoyou Ying, Yves Sabbagh
Achondroplasia, the most common form of dwarfism, affects more than a quarter million people worldwide and remains an unmet medical need. Achondroplasia is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene which results in over-activation of the receptor, interfering with normal skeletal development leading to disproportional short stature. Multiple mouse models have been generated to study achondroplasia. The characterization of these preclinical models has been primarily done with 2D measurements...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29322508/a-novel-homozygous-variant-in-bmpr1b-underlies-acromesomelic-dysplasia-hunter-thompson-type
#9
Asmat Ullah, Muhammad Umair, Dost Muhammad, Muhammad Bilal, Kwanghyuk Lee, Suzanne M Leal, Wasim Ahmad
Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (NPR2, GDF5, and BMPR1B). A consanguineous family of Pakistani origin segregating a subtype of acromesomelic dysplasia called Hunter-Thompson was clinically and genetically evaluated. Genotyping of microsatellite markers and linkage analysis revealed a 7...
January 10, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29317355/identification-of-candidate-serum-biomarkers-of-childhood-onset-growth-hormone-deficiency-using-swath-ms-and-feature-selection
#10
Ignacio Ortea, Isabel Ruíz, Ramón Cañete, Javier Caballero-Villarraso, María Dolores Cañete
A typical clinical manifestation of growth hormone deficiency (GHD) is a short stature resulting from delayed growth, but GHD affects bone health, cardiovascular function and metabolic profile and therefore quality of life. Although early GH treatment during childhood has been shown to improve outcomes, no single biochemical parameter is currently available for the accurate diagnosis of GHD in children. There is hence a need for non-invasive biomarkers. In this study, the relative abundance of serum proteins from GHD children and healthy controls was measured by next-generation proteomics SWATH-MS technology...
January 6, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29312590/gnrh-agonist-treatment-for-idiopathic-central-precocious-puberty-can-improve-final-adult-height-in-chinese-girls
#11
Yanqin Ying, Jing Tang, Wei Chen, Zemin Cai, Wan Ting Niu
Object: To study the outcomes of GnRHa on final adult height in Chinese idiopathic central precocious puberty (ICPP) girls and the involved factor(s) that can predict height gain. Methods: We conducted a retrospective analysis on 10 years of data obtained from three clinical hospitals from January 2005 to March 2015, and 101 girls with ICPP, who received GnRHa therapy for more than six months and already reached their adult height were enrolled. Results: Height, bone age, midparent height, HtSDS, sexual development, therapy duration and predicted adult height(PAH)at start and end of GnRHa, and the final adult height(FAH) were recorded and calculated...
December 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29311684/a-severely-short-statured-girl-with-47-xx-%C3%A2-%C3%A2-14-46-xx-upd-14-mat-mosaicism
#12
Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami, Masayo Kagami
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated...
January 9, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29311012/anesthetic-management-of-mosaic-turner-s-syndrome-posted-for-elective-cesarean-delivery-after-spontaneous-pregnancy
#13
K Kalopita, L Michala, C Theofanakis, D Valsamidis
Turner's syndrome, one of the most common sex chromosome abnormalities in females, is caused by loss of part or all of an X chromosome. We report a case of mosaic Turner's syndrome, posted for elective cesarean delivery under low-dose sequential combined spinal epidural anesthesia. The unique features of this case were the combination of an anticipated difficult airway and both short stature and scoliosis in the lumbar region. A titrated combined spinal-epidural technique was performed in order to avoid hemodynamic instability, which could have been exacerbated in the presence of cardiovascular deformities that accompany this syndrome in many cases...
November 26, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29306561/insulin-resistance-depends-on-gh-counter-regulation-in-two-syndromes-of-short-stature
#14
Jaime Guevara-Aguirre, Alexandra Guevara, Marisol Bahamonde
Specific phenotypic features of subjects affected with genetic syndromes depend on peculiarities of expression of each discrete mutation and on extent of its divergence from normal physiology. In this context, and when studying the GH/IGF-I axis of subjects with two different syndromes that include severe short stature (SSS), we noticed different metabolic phenotypes in each cohort. Subjects with Laron syndrome (LS), who have GH insensitivity (GHI), display obesity, increased body fat, enhanced insulin sensitivity and diminished incidence of diabetes mellitus...
December 20, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29304424/association-of-weight-and-height-with-timing-of-deciduous-tooth-emergence
#15
Ashraf I Shaweesh, Ola B Al-Batayneh
OBJECTIVES: The aim of this study was to associate weight and height with the timing of deciduous tooth emergence. METHODS: 1756 children, aged from 1 to 33 months (755 females and 1001 males) had been previously examined for the timing of deciduous tooth emergence and their weights and heights measured. Children were categorized into weight and height groups (underweight, normal, overweight, short stature, normal and tall stature). Probit regression analysis was used to calculate the ages at emergence of each deciduous tooth...
December 29, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29303780/clinical-and-cytogenetic-features-of-516-patients-with-suspected-turner-syndrome-a-single-center-experience
#16
Annelise B Carvalho, Sofia H V Lemos-Marini, Gil Guerra-Junior, Andréa T Maciel-Guerra
BACKGROUND: Clinical suspicion of Turner syndrome (TS) may be challenging. Short stature and absent puberty are not mandatory and the dysmorphic picture is widely variable. The aim of the study was to describe a representative sample of patients with suspected TS in a single center and to verify which set of features may help discriminate those with TS. METHODS: This was a retrospective study of patients with suspected TS evaluated between 1989 and 2012 with the same clinical and cytogenetic protocols...
January 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29302920/a-balanced-reciprocal-translocation-t-10-15-q22-3-q26-1-interrupting-acan-gene-in-a-family-with-proportionate-short-stature
#17
M Crippa, S Giangiobbe, R Villa, I Bestetti, T De Filippis, L Fatti, J Taurino, L Larizza, L Persani, F Bellini, P Finelli, M T Bonati
PURPOSE: Few examples of the involvement of a single gene in idiopathic short stature have been described until now. Our aim was to identify the causative gene of proportionate short stature in a large family showing co-segregation of the phenotype with the reciprocal translocation t(10;15)(q22;q24). METHODS: FISH mapping was carried out with BACs and long-range PCR probes to identify the smallest genomic regions harboring the translocation breakpoints. Real-Time RT-PCR was performed in blood after pre-amplification of target genes cDNA...
January 4, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29302503/celiac-disease-in-south-jordan
#18
Eyad Altamimi
Purpose: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. Methods: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015...
December 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29301188/a-boy-with-46-x-mar-presenting-gynecomastia-and-short-stature
#19
Ki Eun Kim, Ye Jin Kim, Mo Kyoung Jung, Hyun-Wook Chae, Ah Reum Kwon, Woo Jung Lee, Duk-Hee Kim, Ho-Seong Kim
A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29300985/disruption-of-ossec3a-increases-the-content-of-salicylic-acid-and-induces-plant-defense-responses-in-rice
#20
Jin Ma, Jun Chen, Min Wang, Yulong Ren, Shuai Wang, Cailin Lei, Zhijun Cheng, Sodmergen
The exocyst, an evolutionarily conserved octameric protein complex involved in exocytosis, has been reported to be involved in diverse aspects of morphogenesis in Arabidopsis. However, the molecular functions of such exocytotic molecules in rice are poorly understood. Here, we examined the molecular function of OsSEC3A, an important subunit of the exocyst complex in rice. The OsSEC3A gene is expressed in various organs, and OsSEC3A has the potential ability to participate in the exocyst complex by interacting with several other exocyst subunits...
December 30, 2017: Journal of Experimental Botany
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