-
Traffic Injury Prevention 2023In rear impacts, the seat and seatbelt are intended to provide occupant restraint and maintain the occupant on the seat with favorable kinematics and low biomechanical...
OBJECTIVE
In rear impacts, the seat and seatbelt are intended to provide occupant restraint and maintain the occupant on the seat with favorable kinematics and low biomechanical responses. This study analyzes the lack of restraint provided by lap-shoulder belts in rear impacts with and without pretensioning and offers thoughts on ways to provide early restraint by seatbelts.
METHODS
Rear sled tests were conducted at 40.2 km/h (25 mph) delta V with a lap-shoulder belted, instrumented 50th Hybrid III. The dummy instrumentation included head, chest and pelvis triaxial acceleration and upper and lower neck triaxial loads and moments. Lap and shoulder belt loads were measured. High-speed video recorded different views of the occupant kinematics. In the first series, two sled tests were conducted with a Ford F-150 driver seat. One test was with the standard lap-shoulder belts only and a second with buckle pretensioner activation. In the second series, three matched tests were conducted with a Ford Escape driver seat. One test was with the lap-shoulder belts only, a second with retractor and anchor pretensioning and a third with only retractor pretensioning. The analysis included occupant kinematics, lap-belt movement and estimation of the load on the occupant's torso. The load was the sum of force on the upper and lower torso. The upper torso mass was 30.8 kg (67.8 lb) based on GEBOD data for the 50th Hybrid III. It was multiplied by the resultant chest acceleration to calculate the upper torso force. The lower-torso mass was 30.9 kg (68.0 lb). It was multiplied by the resultant pelvic acceleration to calculate the lower torso force. The total load on the seatback was the sum of the upper and lower torso force. The change in angle (θ) of the lap belt was determined by video analysis. The angle θ was from the horizontal up to a line through the lap-belt webbing. Ways to provide early lap-belt restraint were considered.
RESULTS
The rear sled testing at 40.2 km/h (25 mph) showed that the seatbelt provided essentially no restraint of the rearward movement of the occupant. The seat provided essentially all of the rearward restraint with and without pretensioning. There was minimal lap belt load in the series with the dual recliner Escape seat, except for a spike caused by pretensioning. There was more seat deformation in the tests with the single-side recliner F-150 seat. There were higher belt loads. The lap belt limited the lifting of the hips and thighs with essentially no rearward restraint of the occupant. Tension in the lap belt did not relate to restraint of rearward movement of the occupant. Seatbelts provided forward restraint of the occupant during rebound with the belts providing noticeable deceleration of the chest and pelvis. Concepts were considered to provide early lap-belt restraint. One involved a rear pretensioner that dynamically moves the lap-belt anchor forward and upward while tightening the belts in a rear impact. This provides a lap-belt angle greater than θ = 90 deg before occupant movement. With this geometry, the lap belt restrains rearward movement of the occupant and pulls the hip down early in a rear impact.
CONCLUSION
Seatbelts and pretensioners were designed for occupant restraint in frontal crashes, so it is not a surprise they do not provide much restraint of an occupant in rear impacts up to 40.2 km/h (25 mph). The lack of early lap-belt restraint is due to the unfavorable belt angle from the anchors over the hip. A concept is discussed that dynamically moves the anchors in rear impacts to provide early belt restraint.
Topics: Humans; Accidents, Traffic; Seat Belts; Thorax; Neck; Movement; Biomechanical Phenomena; Equipment Design; Acceleration
PubMed: 36135987
DOI: 10.1080/15389588.2022.2121143 -
Journal of Cardiovascular Translational... Dec 2023Hypertrophic and dilated cardiomyopathy (HCM, DCM) are leading causes of cardiovascular morbidity and mortality in children. The pseudokinase alpha-protein kinase 3...
Hypertrophic and dilated cardiomyopathy (HCM, DCM) are leading causes of cardiovascular morbidity and mortality in children. The pseudokinase alpha-protein kinase 3 (ALPK3) plays an essential role in sarcomere organization and cardiomyocyte differentiation. ALPK3 coding mutations are causative of recessively inherited pediatric-onset DCM and HCM with variable expression of facial dysmorphism and skeletal abnormalities and implicated in dominantly inherited adult-onset cardiomyopathy. We now report two variants in ALPK3-a coding variant and a novel intronic variant affecting splicing. We demonstrate that compound heterozygosity for both variants is highly suggestive to be causative of infantile-onset HCM with webbed neck, and heterozygosity for the coding variant presents with adult-onset HCM. Our data validate partial penetrance of heterozygous loss-of-function ALPK3 mutations in late-onset hypertrophic cardiomyopathy and expand the genotypic spectrum of autosomal recessive ALPK3-related cardiac disease with Noonan-like features.
Topics: Adult; Child; Humans; Cardiomyopathy, Dilated; Cardiomyopathy, Hypertrophic; Muscle Proteins; Mutation; Protein Kinases
PubMed: 37973666
DOI: 10.1007/s12265-023-10461-y -
Heliyon Jan 2024Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without...
Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without significant deformities in the long bones. DASS (Dental Abnormalities and Short Stature), caused by alterations in the gene, was previously considered as a subtype of brachyolmia. The present study investigated three unrelated consanguineous families (A, B, C) with Brachyolmia and DASS from Egypt and Pakistan. In our Egyptian patients, we also observed hearing impairment. Exome sequencing was performed to determine the genetic causes of the diverse clinical conditions in the patients. Exome sequencing identified a novel homozygous splice acceptor site variant (:c.3629-1G > T; p. ?) responsible for DASS phenotypes and a known homozygous missense variant (: c.590T > C; p.Ile197Thr) causing hearing impairment in the Egyptian patients. In addition, two previously reported homozygous frameshift variants (:c.132delG; p.Pro45Argfs*25) and (:c.2216delG; p.Gly739Alafs*7) were identified in Pakistani patients. This study emphasizes the vital role of in the axial skeleton and tooth morphogenesis and expands the mutational spectrum of . We are reporting variants in seven patients of three families, majorly causing brachyolmia with dental and cardiac anomalies. Skeletal assessment documented short webbed neck, broad chest, evidences of mild long bones involvement, short distal phalanges, pes planus and osteopenic bone texture as additional associated findings expanding the clinical phenotype of DASS. The current study reveals that the hearing impairment phenotype in Egyptian patients of family A has a separate transmission mechanism independent of .
PubMed: 38192829
DOI: 10.1016/j.heliyon.2023.e23688 -
American Journal of Medical Genetics.... Apr 2015Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include...
Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values < 0.001), whereas women with NS had more trouble recognizing angry facial expressions in comparison with controls (P = 0.01). No significant group differences were found for the frequency of social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans.
Topics: Adult; Affective Symptoms; Assertiveness; Case-Control Studies; Emotions; Female; Humans; Noonan Syndrome; Turner Syndrome; Young Adult
PubMed: 25711203
DOI: 10.1002/ajmg.a.37006 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Aug 2023To investigate the clinical features and genetic etiology of a case of Turner syndrome (TS) with rapidly progressive puberty. (Review)
Review
OBJECTIVE
To investigate the clinical features and genetic etiology of a case of Turner syndrome (TS) with rapidly progressive puberty.
METHODS
A child who had presented at the Pediatric Endocrinology Clinic of the Shenzhen People's Hospital on January 19, 2022 was selected as the study subject. Clinical data of the child were collected. Peripheral blood sample of the child was subjected to chromosomal microarray analysis (CMA) and multiple ligation-dependent probe amplification (MLPA). Previous studies related to TS with rapidly progressive puberty were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases with Turner syndrome and rapidly progressive puberty as the keywords. The duration for literature retrieval was set from November 9, 2021 to May 31, 2022. The clinical characteristics and karyotypes of the children were summarized.
RESULTS
The child was a 13-year-and-2-month-old female. She was found to have breast development at 9, short stature at 10, and menarche at 11. At 13, she was found to have a 46,X,i(X)(q10) karyotype. At the time of admission, she had a height of 143.5 cm (< P3), with 6 ~ 8 nevi over her face and right clavicle. She also had bilateral simian creases but no saddle nasal bridge, neck webbing, cubitus valgus, shield chest or widened breast distance. She had menstruated for over 2 years, and her bone age has reached 15.6 years. CMA revealed that she had a 58.06 Mb deletion in the Xp22.33p11.1 region and a 94.49 Mb duplication in the Xp11.1q28 region. MLPA has confirmed monosomy Xp and trisomy Xq. A total of 13 reports were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases, which had included 14 similar cases. Analysis of the 15 children suggested that their main clinical manifestations have included short stature and growth retardation, and their chromosomal karyotypes were mainly mosaicisms.
CONCLUSION
The main clinical manifestations of TS with rapidly progressive puberty are short stature and growth retardation. Deletion in the Xp22.33p11.1 and duplication in the Xp11.1q28 probably underlay the TS with rapid progression in this child, which has provided a reference for clinical diagnosis and genetic counselling for her.
Topics: Humans; Female; Adolescent; Puberty; Turner Syndrome; Chromosomes, Human, X; Karyotyping
PubMed: 37532505
DOI: 10.3760/cma.j.cn511374-20220721-00484 -
Journal of Medical Case Reports Dec 202149XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000-100,000 male births. Worldwide, around 100 cases have been reported. In...
BACKGROUND
49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000-100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case seen in Sri Lanka.
CASE PRESENTATION
A 10-day-old Sri Lankan neonate born in a tertiary care center was referred to the pediatric endocrinology unit of Lady Ridgeway Hospital due to detection of ambiguous genitalia at birth. He was the first child born to nonconsanguineous healthy parents following an uncomplicated antenatal period. He was born at term via normal vaginal delivery, with a birth weight of 2.385 kg. The baby was active, and there was no documented hypoglycemia or alteration in basic biochemical investigations. On examination, the child had hypertelorism, upslanting palpebral fissures, flat occiput, and mild webbing of the neck. System examination was normal. Genitalia examination revealed bifid scrotum, perineal urethra, 2 cm phallus, and bilateral testis in situ. Hormonal analysis, including dehydroepiandrosterone sulfate, testosterone, and 17-OH progesterone levels, was normal except for an elevated level of follicle-stimulating hormone, indicating gonadal dysgenesis. Ultrasound of the abdomen detected testis located at bilateral inguinal canal, and no Müllerian structures were visible. Echocardiography showed a small patent foramen ovale with otherwise normal heart. Chromosome analysis revealed 49XXXXY syndrome.
CONCLUSION
49XXXXY syndrome should be entertained as a rare possibility for ambiguous genitalia, and karyotyping is an essential investigation for evaluation of such patients.
Topics: Child; Disorders of Sex Development; Female; Follicle Stimulating Hormone; Humans; Infant; Infant, Newborn; Karyotyping; Male; Pregnancy; Testis; Testosterone
PubMed: 34965889
DOI: 10.1186/s13256-021-03188-4 -
Journal of the ASEAN Federation of... 2019Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim...
OBJECTIVES
Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim to examine the clinical features of all our Turner patients during the study period and at presentation.
METHODOLOGY
This was a cross-sectional study. Thirty-four (34) Turner patients were examined for Turner-specific clinical features. The karyotype, clinical features at presentation, age at diagnosis and physiologic features were retrieved from their medical records.
RESULTS
Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ≥2 years were short irrespective of karyotype.
CONCLUSION
Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.
PubMed: 33442133
DOI: 10.15605/jafes.034.01.05 -
Cureus Jan 2024Noonan syndrome is a genetic, developmental disorder characterized by facial deformities, congenital heart defects, webbed neck, wide space nipples, and growth hormone...
Noonan syndrome is a genetic, developmental disorder characterized by facial deformities, congenital heart defects, webbed neck, wide space nipples, and growth hormone deficiencies. We report a case of a 15-year-old female patient who presented to the outpatient department with recurrent puffiness of both eyes, easy fatiguability, and dyspnea on exertion. The condition was associated with bilateral proximal muscular weakness of lower limbs with positive Gower's sign. On examination, the patient had a webbed neck, hypertelorism, a shielded chest, short stature, and a high-arched palate. Thyroid function tests revealed hypothyroidism. Chromosomal analysis revealed 46 XX. After excluding Turner syndrome on karyotyping, Noonan syndrome with hypothyroidism was diagnosed. The patient was started on levothyroxine and referred to a pediatric endocrinologist for further growth and development assessment. Autoimmune hypothyroidism in a patient with Noonan Syndrome is rare; it may occur as a separate entity or have some genetic susceptibility. Further research is needed to determine the association of autoimmune hypothyroidism with Noonan syndrome.
PubMed: 38313927
DOI: 10.7759/cureus.51592 -
American Journal of Medical Genetics.... Nov 2014Noonan syndrome (NS) is an autosomal dominant disorder consisting of short stature, short and/or webbed neck, distinctive facial features, cardiac abnormalities,...
Noonan syndrome (NS) is an autosomal dominant disorder consisting of short stature, short and/or webbed neck, distinctive facial features, cardiac abnormalities, cryptorchidism, and coagulation defects. NS exhibits genetic heterogeneity, associated with mutated genes that participate in RAS-mitogen-activated protein kinase signal transduction. Recently, a new gene (RIT1) was discovered as the causative gene in 17 of 180 Japanese individuals who were negative for the previously known genes for NS and were studied using exome sequencing (four patients), followed by Sanger sequencing (13 patients). The present study used the same technique in 70 Brazilian patients with NS and identified six with RIT1 missense mutations. Thus, we confirm that RIT1 is responsible for approximately 10% of the patients negative for mutations in the previously known genes. The phenotype includes a high frequency of high birth weight, relative macrocephaly, left ventricular hypertrophy, and ectodermal findings, such as curly hair, hyperpigmentation, and wrinkled palms and soles. Short stature and pectus deformity were less frequent. The majority of patients with a RIT1 mutation did not show apparent intellectual disability. Because of the relatively high frequency of mutations in RIT1 among patients with NS and its occurrence in different populations, we suggest that it should be added to the list of genes included in panels for the molecular diagnosis of NS through targeted next-generation sequencing.
Topics: Adolescent; Adult; Child; Child, Preschool; Facies; Female; Fenoterol; Genetic Association Studies; Genetic Heterogeneity; Humans; Male; Mutation; Noonan Syndrome; Radiography; Scoliosis; Young Adult; ras Proteins
PubMed: 25124994
DOI: 10.1002/ajmg.a.36722 -
Journal of Pediatric Endocrinology &... Jan 2018Clinical 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...
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. Data regarding reason for referral, age and height at diagnosis, birth data, pubertal features and dysmorphisms were analyzed.
RESULTS
TS was diagnosed in 36% of 516 patients; structural chromosome anomalies predominated (42%). Short stature was the main reason for referral of patients with and without TS. The mean age of patients at first visit, with TS or without TS was similar (11.89 and 11.35 years, respectively), however, infants and adolescents predominated in the TS group. The mean full-term birth weight was lower in patients with TS as well as height at diagnosis, but normal height z-score was found in 17% of patients. Spontaneous puberty occurred in 30% of TS patients aged 13 years or more, but most had pubertal delay. Residual lymphedema, webbed neck, cubitus valgus, hyperconvex nails, shield chest, abnormal nipples, pigmented nevi, short fourth metacarpal and shorter height were the best discriminators for girls with TS.
CONCLUSIONS
Though short stature, pubertal delay and typical stigmata should prompt investigation of TS, lack of one of these features should not exclude this hypothesis. Dysmorphisms other than those considered "typical" should be sought on physical examination.
Topics: Adolescent; Age Factors; Birth Weight; Body Height; Brazil; Child; Child, Preschool; Cross-Sectional Studies; Diagnosis, Differential; Female; Growth Disorders; Hospitals, University; Humans; Infant; Karyotyping; Lymphedema; Outpatient Clinics, Hospital; Prevalence; Puberty, Delayed; Referral and Consultation; Retrospective Studies; Sex Chromosome Aberrations; Turner Syndrome
PubMed: 29303780
DOI: 10.1515/jpem-2017-0273