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Masaki Matsushita, Kenichi Mishima, Ryusaku Esaki, Naoki Ishiguro, Kinji Ohno, Hiroshi Kitoh
OBJECTIVE Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Foramen magnum stenosis (FMS) is one of the serious neurological complications in ACH. Through comprehensive drug screening, the authors identified that meclozine, an over-the-counter drug for motion sickness, inhibited activation of FGFR3 signaling. Oral administration of meclozine to the growing ACH mice promoted longitudinal bone growth, but it did not prevent FMS...
October 21, 2016: Journal of Neurosurgery. Pediatrics
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
Dominic Thompson
No abstract text is available yet for this article.
September 21, 2016: Developmental Medicine and Child Neurology
Adam Margalit, Greg McKean, Cheryl Lawing, Scott Galey, Michael C Ain
BACKGROUND: Thoracolumbar kyphosis (TLK) is common in infants with achondroplasia. Our goals were to examine the natural history of TLK and identify factors associated with persistent TLK. METHODS: We reviewed records of patients with achondroplasia seen by a board-certified orthopaedic surgeon at a tertiary care medical center between 1997 and 2013. Inclusion criteria were minimum 2-year follow-up and radiographs taken at time of presentation, within 6 months of walking age, and within 6 months of the first anniversary of walking age...
September 15, 2016: Journal of Pediatric Orthopedics
Joseph T Hefner, Michael W Warren
Achondroplasia (chondrodystrophia) is an autosomal dominant inherited disorder affecting approximately 1 in 26,000 live births and is the most common cause of dwarfism in humans. Disproportionate short stature and a suite of craniofacial characteristics typify achondroplasia. The literature available for differential diagnosis of the disorder relies primarily on the postcranial skeleton. In this paper, a possible case of achondroplasia is presented. The cranium presents a unique suite of cranial and craniofacial dysmorphologies...
September 16, 2016: Journal of Forensic Sciences
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
Stefania Fornarino, Daniela Paola Rossi, Mariasavina Severino, Angela Pistorio, Anna Elsa Maria Allegri, Simona Martelli, Laura Doria Lamba, Paola Lanteri
AIM: To evaluate the contribution of somatosensory evoked potentials after median nerve (MN-SEPs) and posterior tibial nerve (PTN-SEPs) stimulation in functional assessment of cervical and lumbar spinal stenosis in children with achondroplasia. METHOD: We reviewed MN-SEPs, PTN-SEPs, and spinal magnetic resonance imaging (MRI) examinations performed in 58 patients with achondroplasia (25 males, 33 females; age range 21d-16y 10mo; mean age 4y 3mo [SD 4y 1mo]). Patients were subdivided into four age categories: <2 years, between 2 to 4 years, between 4 to 8 years, and ≥8 years...
September 16, 2016: Developmental Medicine and Child Neurology
Pinar Altiaylik Ozer, Emrah Utku Kabatas, Gokce Tasdemir Ertugrul, Bengi Ece Kurtul, Umut Kaygusuz, Selmin Karatayli Ozgursoy
PURPOSE: To investigate types and frequencies of ocular disorders in children with sensorineural hearing loss (SNHL), and to emphasize the importance of ophthalmological examination in these children. METHODS: A retrospective analysis of the examination records of children examined in our instutititon between January 2011 and September 2014 was performed. Ocular disorders of children with SHNL were selectively reviewed. RESULTS: Among 55340 patients, SNHL was present in 110 (0...
September 14, 2016: Seminars in Ophthalmology
Sebastian Farr, Gabriel Mindler, Rudolf Ganger, Werner Girsch
➤Bone lengthening has been used successfully for several congenital and acquired conditions in the pediatric clavicle, humerus, radius, ulna, and phalanges.➤Common indications for bone lengthening include achondroplasia, radial longitudinal deficiency, multiple hereditary exostosis, brachymetacarpia, symbrachydactyly, and posttraumatic and postinfectious growth arrest.➤Most authors prefer distraction rates of <1 mm/day for each bone in the upper extremity except the humerus, which can safely be lengthened by 1 mm/day...
September 7, 2016: Journal of Bone and Joint Surgery. American Volume
Kimberley Wigg, Louise Tofts, Suzanne Benson, Melanie Porter
The current observational study had three specific objectives: (i) to document any neuropsychological impairment in a sample of children with achondroplasia; (ii) to explore individual variability; and (iii) to determine the functional impact of any impairments. Fourteen children aged between 6 and 15 years with a medically confirmed diagnosis of achondroplasia (FGFR 3 mutation positive) underwent a comprehensive standardized neuropsychological evaluation. On average, while generally still within normal limits, significantly lower scores compared to standardized means were identified on: Full-scale IQ, verbal IQ, working memory, arithmetic, attention, executive functioning and aspects of day-to-day emotional, social, and behavioral functioning...
November 2016: American Journal of Medical Genetics. Part A
Roelof-Jan Oostra, Lucas Boer, Alie E van der Merwe
Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital conditions that specifically affect the skeleton, either qualitatively or quantitatively. Skeletal dysplasias (osteochondrodysplasias) interfere with the histological formation, growth and maturation of skeletal tissues leading to diminished postural length, but the building plan of the body is unaffected...
October 2016: Clinical Anatomy
Eoin C Whelan, Alexander C Nwala, Christopher Osgood, Stephan Olariu
MOTIVATION: As the mean age of parenthood grows, the effect of parental age on genetic disease and child health becomes ever more important. A number of autosomal dominant disorders show a dramatic paternal age effect due to selfish mutations: substitutions that grant spermatogonial stem cells a selective advantage in the testes of the father, but have a deleterious effect in offspring. In this paper we present a computational technique to model the spermatogonial stem cell niche in order to examine the phenomenon and draw conclusions across different genes and disorders...
August 16, 2016: Bioinformatics
Sanjay K Chilbule, Vivek Dutt, Vrisha Madhuri
BACKGROUND: Stature lengthening in skeletal dysplasia is a contentious issue. Specific guidelines regarding the age and sequence of surgery, methods and extent of lengthening at each stage are not uniform around the world. Despite the need for multiple surgeries, with their attendant complications, parents demanding stature lengthening are not rare, due to the social bias and psychological effects experienced by these patients. This study describes the outcome and complications of extensive stature lengthening performed at our center...
July 2016: Indian Journal of Orthopaedics
Angela E Scheuerle, Arthur S Aylsworth
BACKGROUND: Pharmaceutical pregnancy exposure registries seek to evaluate temporal associations between drug exposures and adverse outcomes, particularly congenital anomalies. These registries record observed associations that may or may not be causally-related to the exposure. Most major congenital malformations (i.e., structural birth defects) result from abnormal development during embryogenesis. A standardized catalog of defects of concern (colloquially the "BPA Codes") is used both in public health surveillance programs and pregnancy exposure registries...
August 11, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Hai Wang, Jianwei Guo, Shengru Wang, Yang Yang, Yanbin Zhang, Guixing Qiu, Jianguo Zhang
STUDY DESIGN: Retrospective study of instrumentation failure after posterior vertebral column resection (pVCR) in adult spinal deformity (ASD) patients. OBJECTIVE: The morbidity and related risk factors of the instrumentation failure. SUMMARY OF BACKGROUND DATA: Instrumentation failure is another common complication after pVCR. But no report about it has been published before. The safety of titanium mesh cages (TMCs) for this failure is still unknown so far...
August 8, 2016: Spine
Sara Ota, Zi-Qiang Zhou, Megan P Romero, Guang Yang, Peter J Hurlin
Mutations that cause increased and/or inappropriate activation of FGFR3 are responsible for a collection of short-limbed chondrodysplasias. These mutations can alter receptor trafficking and enhance receptor stability, leading to increased receptor accumulation and activity. Here we show that wildtype and mutant activated forms of FGFR3 increase expression of the cytoplasmic deacetylase HDAC6 (Histone Deacetylase 6) and that FGFR3 accumulation is compromised in cells lacking HDAC6 or following treatment of fibroblasts or chondrocytes with small molecule inhibitors of HDAC6...
August 9, 2016: Human Molecular Genetics
Tetsuya Okazaki, Yoshiaki Saito, Riyo Ueda, Takeya Awashima, Yoko Nishimura, Isao Yuasa, Yuki Shinohara, Kaori Adachi, Masayuki Sasaki, Eiji Nanba, Yoshihiro Maegaki
Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by short stature and macrocephaly. Clinical symptoms and radiological and histopathological features of HCH are similar, but milder than those seen in achondroplasia. Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy. We report a 3-year-old girl who developed recurrent epileptic apnea, which started immediately after birth. The apneic seizures were refractory to antiepileptic medications; ictal electroencephalography showed rhythmic activity originating from the left or right temporal areas and rarely from the right frontal area...
July 30, 2016: Brain & Development
Doreen Crawford, Annette Dearmun
Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.
July 8, 2016: Nursing Children and Young People
Haiming Yuan, Linhuan Huang, Xizi Hu, Qian Li, Xiaofang Sun, Yingjun Xie, Shu Kong, Xiaoman Wang
BACKGROUND: Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations. RESULT: A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12...
2016: Orphanet Journal of Rare Diseases
Gözde İnan, Elif Yayla, Ünal Taş, Esma Arık, Berrin Günaydın
Because of structural defects in achondroplasia, as one of the dwarfism types, the choice of an anaesthetic technique and management for caesarean delivery presents a challenge. We aimed to discuss our successful single-shot spinal anaesthesia approach for caesarean section for one urgent and one elective achondroplasic parturient based on the literature.
August 2015: Turkish Journal of Anaesthesiology and Reanimation
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