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Polski Przeglad Chirurgiczny Mar 2015Turner's syndrome occurs in approximately 1 out of every 2,000 to 2,500 live-born girls. This genetically determined pathology is characterised by multiple congenital...
Turner's syndrome occurs in approximately 1 out of every 2,000 to 2,500 live-born girls. This genetically determined pathology is characterised by multiple congenital anomalies. A typical form of this syndrome is associated with a lack of one of the sex chromosomes (karyotype 45, X). From the point of view of plastic surgery, one of the most important elements of the therapy is correction of the webbed neck deformity. The aim of the study was to present the possibilities of surgical treatment of a webbed neck of patients with Turner's syndrome and the evaluation of treatment results. In the years 2000-2012, six children with Turner's syndrome were treated because of the webbed neck deformity. The age of patients ranged from 9 to 17 years. In the case of all patients, the aim was to distribute the neck skin folds by using Z-plasty in conjunction with a shift to the back of glabrous skin flaps mobilised from the anterolateral surface of the neck. In the case of four operated patients, the folds were completely removed and a correct symmetrical outline of the neck was obtained. One patient was found to have unilateral moderate webbed neck recurrence after about 2 years of treatment. In one case, the correction was insufficient. The performed surgical procedures enabled correction of low hairline only in the lateral parts of the neck. The lower line of the scalp in the central part of the neck has remained unchanged. The lateral approach with a shift of glabrous skin flap to the back, which we performed, allows for effective reduction of the webbed neck, excision of bands of the connective tissue and correction of the low hairline on the side of the neck. Z-plasty enables an adequate extension of scars and improves the contour of the neck.
Topics: Adolescent; Aortic Coarctation; Child; Dermatologic Surgical Procedures; Female; Humans; Male; Neck; Surgical Flaps; Turner Syndrome
PubMed: 26146109
DOI: 10.1515/pjs-2015-0033 -
Traffic Injury Prevention 2019Since 2005, National Association for Stock Car Auto Racing, Incorporated (NASCAR) drivers have been required to use a head and neck restraint system (HNR) that complies...
Since 2005, National Association for Stock Car Auto Racing, Incorporated (NASCAR) drivers have been required to use a head and neck restraint system (HNR) that complies with SFI Foundation, Inc. (SFI) 38.1. The primary purpose of the HNR is to control and limit injurious neck loads and head kinematics during frontal and frontal oblique impacts. The SFI 38.1 performance specification was implemented to establish a uniform test procedure and minimum standard for the evaluation of HNRs using dynamic sled testing. The purpose of this study was to evaluate the repeatability of the current SFI 38.1 test setup and explore the effects of a polyester seat belt restraint system. Eight sled tests were conducted using the SFI 38.1 sled test protocol with additional test setup constraints. Four 0° frontal tests and 4 30° right frontal (RF) oblique tests were conducted. The first 3 tests of each principal direction of force (PDOF) used nylon SFI 16.1 seat belt restraint assemblies. The fourth test of each PDOF used polyester SFI 16.6 seat belt restraint assemblies. A secondary data set (Lab B Data) was also supplied by the HNR manufacturer for further comparisons. The International Organization for Standardization (ISO) 18571 objective comparison method was used to quantify the repeatability of the anthropomorphic test device (ATD) resultant head, chest, and pelvis acceleration and upper neck axial force and flexion extension bending moment time histories across multiple tests. Two data sets generated using the SFI 38.1 test protocol exhibited large variations in mean ISO scores of ATD channels. The 8 tests conducted with additional setup constraints had significantly lower mean ISO score coefficients of variation (CVs). The Lab B tests conducted within the current specification but without the additional test setup constraints had larger mean ISO score standard deviation and CV for all comparisons. Specifically, tests with the additional setup constraints had average CVs of 3.3 and 2.9% for the 0° and 30° RF orientations, respectively. Lab B tests had average CVs of 22.9 and 24.5%, respectively. Polyester seat belt comparisons had CVs of 5.3 and 6.2% for the 0° and 30° RF orientations, respectively. With the addition of common test setup constraints, which do not violate the specification, the SFI 38.1 test protocol produced a repeatable test process for determining performance capabilities of HNRs within a single sled lab. A limited study using polyester webbing seat belt assemblies versus the nylon material called for in SFI 38.1 indicates that the material likely has less effects on ATD upper neck axial force and flexion extension bending moment time histories than the test setup freedom currently available within the specification. The additional test setup constraints are discussed and were shown to improve ATD response repeatability for a given HNR.
Topics: Accidents, Traffic; Biomechanical Phenomena; Head; Humans; Manikins; Neck; Reproducibility of Results; Restraint, Physical; Seat Belts; Sports
PubMed: 31329480
DOI: 10.1080/15389588.2019.1633467 -
BMJ Case Reports May 2019Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities,...
Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.
Topics: Abnormalities, Multiple; Consanguinity; DNA Mutational Analysis; Disease Susceptibility; Fatal Outcome; Genetic Counseling; Genetic Heterogeneity; Humans; Infant, Newborn; Male; Malignant Hyperthermia; Metalloendopeptidases; Mutation; Pedigree; Receptors, Nicotinic; Skin Abnormalities
PubMed: 31068350
DOI: 10.1136/bcr-2018-229045 -
Urologia Internationalis 2022Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male...
Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko lines on his back were noted. He had a previous karyotype reported as normal. However, due to an inadequate evolution and a low resolution on the previous test, a higher resolution karyotype was performed, identifying a mosaicism 45,X/46,XY. A multidisciplinary board examined the case, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients. Treatment should be transdisciplinary and focused on the particular characteristics of each case. Other treatment alternatives include corrective surgery and hormonal therapy.
Topics: Disorders of Sex Development; Female; Gonadal Dysgenesis, Mixed; Humans; Male; Mosaicism; Phenotype; Turner Syndrome
PubMed: 34929697
DOI: 10.1159/000519368 -
Traffic Injury Prevention 2021Occupant kinematics and biomechanical responses are assessed with and without pretensioning of normally seated and out-of-position front-seat occupants in rear sled...
OBJECTIVE
Occupant kinematics and biomechanical responses are assessed with and without pretensioning of normally seated and out-of-position front-seat occupants in rear sled tests. The results are compared to recent studies.
METHODS
Three series of rear sled tests were conducted at 24 and 40 km/h with a 2001 Ford Taurus. Series I consisted of two sled tests with a lap-shoulder belted 50 Hybrid III in the driver seat. Series II included four sled tests with a lap-shoulder belted 50 Hybrid III in both front seats. Two soft foam blocks were added, one was placed on the chest centerline under the shoulder belt and one on the pelvis under the lap belt providing additional webbing. Series III consisted of 8 runs and 16 ATD tests to assess the effect of pretensioning with out-of-positioned (OOP) occupants. The biomechanical responses were normalized with Injury Assessment Reference Values (IARV) for head, neck and chest.
RESULTS
The ATD kinematics and biomechanical responses were similar in the yielding phase when the occupant was normally seated with and without pretensioning. The rebound displacement was greater with pretensioning in the 40 km/h tests due to the shoulder belt slipping off the shoulder. The hip displacement was similar, irrespective of pretensioning. All biomechanical responses were below IARVs. The highest response was for lower neck extension. The normalized response was at about 32% for the 24 km/h tests, irrespective of pretensioning. It was up to 59% in the 40 km/h tests with pretensioning. With the OOP occupants, there were no differences in the kinematics and biomechanical response with pretensioning.
CONCLUSIONS
Testing of the effect of retractor pretensioning with out-of-position occupants and additional belt webbing in moderate to high-speed rear sled tests shows no effect on occupant kinematics and biomechanical responses. The displacement of the hips in a rear impact depends on the compliance of the seatback and amount of pocketing, the stiffness of the seat frame limiting rearward rotation, and the dynamic friction between the occupant and the seatback.
Topics: Acceleration; Accidents, Traffic; Biomechanical Phenomena; Head; Humans; Manikins; Neck; Thorax
PubMed: 34355979
DOI: 10.1080/15389588.2021.1946523 -
PeerJ 2022Mesosaurs are the first secondarily aquatic amniotes and one of the most enigmatic clades of reptiles from the early Permian. They have long puzzled paleontologists with...
Mesosaurs are the first secondarily aquatic amniotes and one of the most enigmatic clades of reptiles from the early Permian. They have long puzzled paleontologists with their unique morphologies: possessing an elongated skull with thin needle-like teeth, a long neck, large webbed hindlimbs, banana-shaped pachyosteosclerotic ribs, and a long tail. Here, we look at a large dataset of morphometric measurements from 270 mesosaur specimens in collections around the world. These measurements characterize skull, tooth, and limb proportions and their variation with size. This data presents evidence of surprising ontogenetic changes in these animals as well as new insights into their taxonomy. Our results support the recent hypothesis that is the only valid species within Mesosauridae and suggest that "" and "" represent immature stages or incomplete specimens of by showing that all three species occupy an incomplete portion of the overall size range of mesosaurs. Under the single-species hypothesis, we highlight a number of ontogenetic trends: (1) a reduction in skull length accompanied by an elongation of the snout within the skull, (2) an elongation of teeth, (3) a reduction in hind limb length, and (4) a reduction in manus length. Concurrent with these changes, we hypothesize that mesosaurs went through a progressive ecological shift during their growth, with juveniles being more common in shallow water deposits, whereas large adults are more frequent in pelagic sediments. These parallel changes suggest that mesosaurs underwent a diet and lifestyle transition during ontogeny, from an active predatory lifestyle as juveniles to a more filter-feeding diet as adults. We propose that this change in lifestyle and environments may have been driven by the pursuit of different food sources, but a better understanding of the Irati Sea fauna will be necessary to obtain a more definitive answer to the question of young mesosaur diet.
Topics: Animals; Skull; Reptiles; Tooth; Head; Diet
PubMed: 36132215
DOI: 10.7717/peerj.13866 -
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 -
Cureus May 2023Webbed neck deformity is a congenital anomaly that exists in several syndromes. Various techniques for surgically correcting the webbed neck deformity have been...
Webbed neck deformity is a congenital anomaly that exists in several syndromes. Various techniques for surgically correcting the webbed neck deformity have been described in the literature, each comes with its own advantages and disadvantages. The aim of surgery is to achieve normal neck contour and symmetrical hairline, avoid excessive scarring over the anterior and lateral neck, and limit recurrence. In this report, we described our experience in managing a case of Turner syndrome with bilateral webbed neck deformity using the modified five-flap Z-plasty technique.
PubMed: 37346202
DOI: 10.7759/cureus.39312