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Industrial Psychiatry Journal 2020Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000-2500 live births. Characteristic features of the condition include...
Noonan syndrome is an autosomal dominant, genetic, multisystem disorder with a prevalence of 1 in 1000-2500 live births. Characteristic features of the condition include distinctive myopathic facial features, hypertelorism, short and broad nose, webbed neck, and low set ears. About 10% of the subjects have auditory defects due to sensorineural hearing loss. The patient also has short stature, chest deformity (superior pectus carinatum and inferior pectus excavatum), widely spaced nipples, and delayed puberty. A rare psychiatric manifestation of somnambulism and somniloquy in a case of Noonan syndrome is reported.
PubMed: 34158723
DOI: 10.4103/ipj.ipj_84_19 -
Traffic Injury Prevention 2021This study compared dummy kinematics and biomechanical responses with and without retractor pretensioning in a severe rear sled test. It compliments an earlier study...
OBJECTIVE
This study compared dummy kinematics and biomechanical responses with and without retractor pretensioning in a severe rear sled test. It compliments an earlier study with buckle pretensioning.
METHODS
Three rear tests were run at 40 km/h (25 mph) delta V with a lap-shoulder belted Hybrid III 50 male dummy on a 2013-18 Ford Escape driver seat and belt restraint. One test was with the lap-shoulder belts only, a second with retractor and anchor pretensioning and a third with only retractor pretensioning. The head, chest and pelvis were instrumented with triaxial accelerometers. The upper and lower neck, thoracic spine and lumbar spine had transducers measuring triaxial loads and moments. Lap belt load was measured. High-speed video recorded different views of the dummy motion. Dummy kinematics and biomechanical responses were compared to determine the influence of retractor belt pretensioning.
RESULTS
The dummy kinematics and biomechanical responses were essentially similar with and without retractor or retractor and anchor pretensioning in rear sled tests. There was an initial spike in lap belt load with pretensioning, but it did not result in different dummy head, neck or chest responses. In the tests, the dummy moved rearward away from the shoulder belt. The belts were tightened with the rapid pull on the webbing by pretensioning. The dummy loaded the seat, which yielded rearward restraining its motion. There was no significant effect of pretensioning on the dynamics of the dummy until late in rebound.
CONCLUSIONS
There were no significant differences in dynamics of the Hybrid III with and without retractor or retractor and anchor pretensioning in a 40 km/h (25 mph) rear sled test. Belt pretensioning did not influence biomechanical responses in the rear impact because the seat supported the dummy.
Topics: Acceleration; Accidents, Traffic; Biomechanical Phenomena; Computer Simulation; Head; Humans; Lumbar Vertebrae; Manikins; Neck; Snow; Stress, Mechanical; Thorax
PubMed: 33886404
DOI: 10.1080/15389588.2021.1910243 -
Journal of Craniovertebral Junction &... 2021We present a report of two patients having the association of omovertebra, Sprengel's deformity of the shoulder and Klippel-Feil abnormality with craniovertebral...
We present a report of two patients having the association of omovertebra, Sprengel's deformity of the shoulder and Klippel-Feil abnormality with craniovertebral junctional instability. Our literature survey did not locate any report of such association. Significance of bone alterations is analyzed. Two young patients presented with neck pain, torticollis, webbed neck, and spastic quadriparesis. In both patients, the investigations revealed basilar invagination, Klippel-Feil abnormality and Sprengel's deformity of the shoulder. Apart from these relatively common associations, both the patients had omovertebral bone that extended from the transverse process of C5 vertebra to scapula. Following atlantoaxial stabilization surgery, the patients rapidly recovered from all symptoms. Musculoskeletal abnormalities at the craniovertebral junction that include Klippel-Feil abnormality, Sprengel's shoulder, and omovertebra are secondary alterations to primary atlantoaxial instability.
PubMed: 33850390
DOI: 10.4103/jcvjs.JCVJS_7_21 -
Cureus Nov 2020Turner syndrome (TS) is the most frequent sex abnormality in women. The physical features include short stature, webbing of the neck, and gonadal dysgenesis. Typically,...
Turner syndrome (TS) is the most frequent sex abnormality in women. The physical features include short stature, webbing of the neck, and gonadal dysgenesis. Typically, patients with Turner syndrome exhibit no intellectual disability, and a few cases of TS have been associated with epilepsy. Herein, we present a case of TS with intractable epilepsy. The patient presented with global developmental delay at the age of two and karyotyping revealed mosaicism [45, X/46, X del (X) (q21.1)]. At the age of seven, she had generalized tonic epilepsy as well as several focal-onset seizures. She developed daily seizures, which were refractory to several antiepileptic drugs. Interictal electroencephalography (EEG) revealed multifocal spikes, and ictal EEG revealed shifting foci. She visited our hospital at the age of 13. Her peripheral white blood cells G-band and fluorescence in situ hybridization (FISH) method chromosome with cheek swab examinations revealed 45, X. Her peripheral white blood cell mosaic pattern may have disappeared over time or become indetectable. We treated her with clobazam, and then lamotrigine and valproic acid combination therapy, which resulted in a reduction in the frequency of seizures by approximately 50%. Epilepsy and intellectual disability in this case may be due to the mosaic deletion at Xq21.1. Further analysis of similar cases may provide valuable information for effective therapeutic strategies.
PubMed: 33304697
DOI: 10.7759/cureus.11364 -
Balkan Journal of Medical Genetics :... Jun 2020A 28-year-old woman underwent amniocentesis at 18 weeks' gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester...
A 28-year-old woman underwent amniocentesis at 18 weeks' gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks' gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.
PubMed: 32953417
DOI: 10.2478/bjmg-2020-0014 -
Journal of the American Academy of... Apr 2020Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and...
UNLABELLED
Sprengel deformity is the main congenital shoulder deformity seen in children. First described by Otto Sprengel in 1891, it consists of a high-riding, dysplastic, and malrotated scapula leading to functional and cosmetic impairments. It has never been reported in siblings.
CASE PRESENTATION
Two sisters, 8 and 9 years old, presented for an evaluation of atraumatic limitation in the shoulder range of motion and neck webbing with an unknown family history. Physical examination revealed a small high-riding scapula, webbed neck, and painless limitation in shoulder abduction (<70°) and flexion (<80°). The 9-year-old sibling had a bilateral shoulder involvement, and the younger had unilateral. Imaging revealed bony and fibrous omovertebral connections between the dysplastic scapulas and cervical spine along with Klippel-Feil deformities. Both sisters underwent scapula repositioning via a modified Woodward procedure. The omovertebral connection was resected followed by scapula derotation and inferior migration. Both had a dramatic improvement in cosmesis and near-complete restoration of shoulder function at follow-up.
CONCLUSIONS
Although uncommon, Sprengel deformity results in notable derangement of shoulder function. If untreated, children experience difficulty with most overhead activities and often have cosmetic reports. Although no previous genetic link has been identified, its presence in biological sisters suggests that more research is needed.
Topics: Cervical Vertebrae; Child; Congenital Abnormalities; Female; Humans; Scapula; Shoulder Joint; Siblings
PubMed: 32377613
DOI: 10.5435/JAAOSGlobal-D-19-00120 -
American Journal of Medical Genetics.... Jun 2020KBG syndrome is an intellectual disability (ID) associated with multiple congenital anomalies in which the macrodontia could be the clue for the diagnosis. It is caused...
KBG syndrome is an intellectual disability (ID) associated with multiple congenital anomalies in which the macrodontia could be the clue for the diagnosis. It is caused either by heterozygous variant in ANKRD11 gene or 16q24.3 microdeletions that involve the ANKRD11 gene. Here, we report on two unrelated male patients who presented with ID, short stature, webbing of neck, and cryptorchidism. Noonan syndrome was suspected first but the presence of macrodontia in both patients pointed to KBG syndrome which was confirmed thereafter by the identification of a novel pathogenic variant in ANKRD11 gene, c.5488G>T (p.E1830*). Macrodontia was noticed in all the deciduous anterior teeth in Patient 1. This observation was reported previously in few patients, but it seems to be a common feature that could be misdiagnosed as premature eruption of teeth. Therefore, our results confirm that maxillary permanent central incisors may not be the only teeth affected in KBG but also all the deciduous teeth. Interestingly, desquamative gingivitis was additionally noted in Patient 1, which has not been reported previously, however; it could be a coincidental finding. To the best of our knowledge, this is the first report from Egypt.
Topics: Abnormalities, Multiple; Adolescent; Bone Diseases, Developmental; Child, Preschool; Chromosome Deletion; Comparative Genomic Hybridization; Cryptorchidism; Dwarfism; Egypt; Facies; Heterozygote; Humans; Intellectual Disability; Male; Phenotype; Repressor Proteins; Tooth Abnormalities
PubMed: 32222090
DOI: 10.1002/ajmg.a.61552 -
Molecular Genetics & Genomic Medicine Apr 2020Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and...
BACKGROUND
Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and variable cognitive deficits as major features. Over the years, neuropsychological and behavioral studies explored alteration of cognitive functioning and related domains, such as learning, memory, and attention. To our knowledge, however, data concerning the language profile in this disorder is scarce. The aim of the present study was to detect specific language functioning combining nonverbal intelligence quotient and language abilities and to pinpoint strengths and weaknesses in the language domains.
METHODS
The language profile of 37 Italian participants with molecularly confirmed diagnosis of Noonan Syndrome was evaluated using specific tools to assess vocabulary and grammar comprehension and production, as well as phonological development.
RESULTS
We observed that 78% of affected individuals exhibited language impairment. Within language domains, the strong area was lexical production and grammar production was the weak area. Almost half the participants manifested a similar trend of specific language impairment. Nonverbal intelligence quotient only correlated with grammar comprehension.
CONCLUSION
Our study expands present knowledge about the language profile in NS, and provides data that could enable more effective patient management and appropriate intervention.
Topics: Adolescent; Child; Child, Preschool; Comprehension; Female; Humans; Intelligence Tests; Language Development Disorders; Language Tests; Male; Noonan Syndrome; Protein Tyrosine Phosphatase, Non-Receptor Type 11
PubMed: 32059087
DOI: 10.1002/mgg3.1069 -
International Journal of Environmental... Oct 2019Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not...
Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not been sufficiently explored so far is the tactile sensitivity of Turner syndrome patients. Thus, the aim of the study was to assess the threshold of tactile sensitivity on hands and feet of women suffering from Turner syndrome. Information on the participants of the study was collected on the basis of questionnaires, as well as anthropometric measurements using a skinfold caliper. Semmes-Weinstein Aesthesiometer was used to find the tactile sensitivity threshold of hands and feet of study participants. Based on the results of the study, significant differences in tactile sensitivity between women with Turner syndrome and healthy women were found. Affected women seem be more sensitive to the touch on the feet than healthy volunteers. The results of the study showed that the tactile sensitivity of women with Turner syndrome is different from that of healthy women.
Topics: Adolescent; Adult; Child; Female; Humans; Middle Aged; Touch; Touch Perception; Turner Syndrome; Young Adult
PubMed: 31614840
DOI: 10.3390/ijerph16203870 -
Traffic Injury Prevention 2019The study aimed to evaluate the protection offered by a center-mounted airbag in far-side impacts using the Test device for Human Occupant Restraint (THOR)...
The study aimed to evaluate the protection offered by a center-mounted airbag in far-side impacts using the Test device for Human Occupant Restraint (THOR) anthropometric test device (ATD). A rigid buck was designed based on a production vehicle. The buck consisted of a rigid seat, center console, dash, and far-side door structure. The center console and dash were covered with paper honeycomb (152 kPa), and the far-side door structure was covered with Ethafoam 220 padding material. The airbag was mounted on the seat, to the right of the occupant. The THOR-M50 ATD was positioned according to the standard seating procedure and restrained using a standard 3-point seat belt with a pretensioner and retractor. The buck was mounted on an acceleration sled in 2 orientations. Four tests at 45° (oblique) and 2 tests at 90° (lateral) orientations were conducted. Tests were performed with and without an airbag at 30 km/h delta-V and 14 acceleration. The head accelerations, neck forces and moments, thoracic accelerations and forces, pelvis accelerations, anterior superior iliac spine (ASIS) forces and moments, and belt webbing loads were obtained from sensors, and the external kinematics was obtained using an optical motion capture system and high-speed digital cameras. With the center-mounted airbag, in 90° and 45° tests, reductions were observed for the following parameters: head lateral excursions by 6% and 11%, head vertical excursions by 19% and 26%, and peak head resultant accelerations by 36% and 11%. Other regional accelerations, forces, and moments were also reduced for both impact angles. A reduction in seat belt forces with the airbag was observed in 90° tests. The center-mounted airbag reduced the ATD excursions and accelerations in the 45° and 90° tests, thus reducing the risk of injury due to contact with the intruding structure. The results of this study may assist in designing countermeasures for vehicles in far-side impact.
Topics: Acceleration; Accidents, Traffic; Air Bags; Biomechanical Phenomena; Equipment Design; Head; Humans; Manikins; Seat Belts; Wounds and Injuries
PubMed: 31567026
DOI: 10.1080/15389588.2019.1650266