Musculoskeletal abnormalities

OBJECTIVE To determine the prevalence of fetal bone dysplasias diagnosed at the Department of Maternal Fetal Medicine (UNIMEF) of the Instituto Nacional de Perinatologia (INPer); and to describe the most frequent skeletal dysplasias and to propose a diagnostic flow chart. MATERIALS AND METHODS This is a case series study including skeletal dysplasias cases from January 1995 until December 2009 at the UNIMEF Statistical analysis was performed using SPSS 12 statistical software. RESULTS A total of 81,892 births were registered at the institution during the study period. The prevalence of bone dysplasia was 8.1 per 10,000 births. We used a diagnostic flow chart that was developed at our institution to diagnose skeletal dysplasias. Micromelia (n = 40, 59.7%) and both rhizomelia and mesomelia (n = 17, 25.3%) were highly prevalent. We found other structural anomalies in 40 cases (61.1%), which were associated with different skeletal dysplasias; these other anomalies were mainly congenital...

Purpose: The present study aimed to compare Musculoskeletal Discomforts (MSDs) among
six different common postures while working with laptop in female students of University of
Tehran, Tehran City, Iran.
Methods: This was a crossover trial study. Eighteen female students voluntarily and purposefully
participated in all stages of the study. The study participants were randomly assigned into groups
to work for 10 minutes on different postures for laptop use during six continuous nights. MSDs
was measured each night after 10 minutes of laptop use. For this purpose, Van der Grinten and
Smith (1992) method was applied. The obtained data were analyzed by repeated measures oneway
ANOVA at a significance level of P≤0.05, in SPSS.
Results: The obtained results suggested a significant difference among six working postures in
MSDs (P=0.005). The results of Bonferroni post hoc analysis revealed that the highest level of
MSDs was observed in a cross-legged sitting position on the floor. While, the lowest level of
MSDs was found in the sitting on a chair posture. In addition, the study participants who used a
desk in order to increase the height of the laptop, reported less levels of MSDs than laptop use in
the cross-legged position on the floor (P=0.039) or sitting on the bed (P=0.011).
Conclusion: According to this study, in order to minimize MSDs during working with laptop, it
is recommended to use desk and chairs instead of sitting cross-legged on the floor or bed.

Catedra Chirurgie, Ortopedie şi Anesteziologie Pediatrică, USMF „Nicolae Testemiţanu”Lucrarea este bazată pe studierea și tratamentul a 98 copii în vârstă de la 9 zile până la 15 ani, cu deformații congenitale multiple ale aparatului locomotor, pe parcursul ultimilor 5 ani. Deformațiile congenitale mai des se întâlnesc la fetițe (64,3%), cu localizarea predominantă la membrele inferioare (89,8%).The work is based on the study and treatment of 98 children, from 9 days to 15 years, with congenital multiple deformations of the musculoskeletal system, over the past 5 years. Congenital deformities were more frequent in girls (64.3%), preferentially localized in the lower limbs (89.8%).Работа основана на исследовании и лечении 98 детей в возрасте от 9 дней до 15 лет, с врожденными множественными деформациями опор- но-двигательного аппарата на протяжении последних 5 лет. Врожденные деформации чаще встречались у девочек (64,3%) c преимущественной локализацией на нижних конечностях (89,8%)

Background/Aim. According to the World Health Organization (WHO) definition, congenital anomalies are all disorders of the organs or tissues, regardless of whether they are visible at birth or manifest in life, and are registered in the International Classification of Diseases. The aim of this study was to compare the incidence and structure of prenatally detected and clinically manifested congenital anomalies in the newborns in the region of Novi Sad (Province of Vojvodina, Serbia) in the two distant years (1996 and 2006). Methods. This retrospective cohort study included all the children born at the Clinic for Gynecology and Obstetrics (Clinical Center of Vojvodina) in Novi Sad during 1996 and 2006. The incidence and the structure of congenital anomalies were analyzed. Results. During 1996 there were 6,099 births and major congenital anomalies were found in 215 infants, representing 3.5%. In 2006 there were 6,628 births and major congenital anomalies were noted in 201 newborns, wh...

Angelman's syndrome (AS) is a genetic neurodevelopment disorder. The cause is a known abnormality involving the maternal inherited ubiquitin-protein ligase (UBE3A) gene. Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures, ataxia, altered tone, severely impaired speech and intellect, as well as an overall happy demeanor, frequent bouts of laughter, and hypermotoric behavior. Associated with this disorder are several musculoskeletal aberrations. To date, a review of case studies reporting on these musculoskeletal changes has not been carried out. Thus, the purpose of this paper was to provide an overview of the musculoskeletal changes present in individuals with AS. In our review of 21 case reports from 1965- 2013, the most consistently reported anatomical changes were of the craniofacial region. These include microcephaly, brachycephaly, a palpable occipital groove, prognathism and wide spaced teeth. ...

Infants with congenital anomalies of kidney and urinary tract (CAKUT) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CAKUT in a defined population from northeastern France. The associated anomalies in CAKUT were collected in all livebirths, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive births of known outcome in the area covered by our population based registry of congenital anomalies. Of the 1678 infants with CAKUT born during this period (prevalence at birth of 48.4 per 10,000), 563(34 %) had associated anomalies. There were 119 (7%) patients with chromosomal abnormalities including 33 trisomies 18 (2%), and 168 (10%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognised dysmorphic conditions, but VA(C)TER(L) association (3%). However, other recognised dysmorphic conditions were registered including Meckel-Gruber syndrom...

Hypomorphic mutation in one allele of ribosomal protein l24 gene (Rpl24) is responsible for the Belly Spot and Tail (Bst) mouse, which suffers from defects of the eye, skeleton, and coat pigmentation. It has been hypothesized that these pathological manifestations result exclusively from faulty protein synthesis. We demonstrate here that upregulation of the p53 tumor suppressor during the restricted period of embryonic development significantly contributes to the Bst phenotype. However, in the absence of p53 a large majority of Rpl24(Bst/+) embryos die. We showed that p53 promotes survival of these mice via p21-dependent mechanism. Our results imply that activation of a p53-dependent checkpoint mechanism in response to various ribosomal protein deficiencies might also play a role in the pathogenesis of congenital malformations in humans.

There are more than 450 well-characterized skeletal dysplasias classified primarily on the basis of clinical, radiographic, and molecular criteria. In the latest 2010 revision of the Nosology and Classification of Genetic Skeletal Disorders, an increase from 372 to 456 disorders had occurred in the four years since the classification was last revisited in 2007. These entities in total represent about 5% of children with birth defects. An accurate diagnosis of a skeletal dysplasia is still based on detailed evaluation of clinical and radiographic [as well as chondro-osseous] findings. Regardless of the specific diagnosis, skeletal dysplasias in general share clinical and radiological findings helping us to group them in several ways. This review aims to outline the diagnostic approach to disproportionate short stature with special emphasis on radiological findings.

We report a neonate with prenatal ultrasound imaging features suggestive of CLOVES syndrome, confirmed postnatally by clinical and imaging findings of the constellation of truncal overgrowth, cutaneous capillary malformations, lymphatic and musculoskeletal anomalies. The clinical, radiological and histopathological findings noted in our patient help differentiate from other overgrowth syndromes such as Proteus syndrome. We report perinatal findings and add new clinical findings of this rare syndrome.

Congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, a segmental overgrowth syndrome, is caused by post zygotic somatic mutations in PIK3CA, a gene involved in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. Prenatal ultrasound findings of lymphovascular malformations, segmental overgrowth and skeletal defects can raise suspicion for CLOVES syndrome, but molecular confirmation of PIK3CA mutations on prenatally obtained samples is challenging because of somatic mosaicism. We detected a mosaic disease-causing mutation in PIK3CA by sequencing of DNA extracted from cultured amniotic cells, but not from DNA directly prepared from an amniotic fluid sample in a fetus with prenatally suspected CLOVES syndrome. The infant was born prematurely and displayed severe lymphovascular malformations and segmental overgrowth consistent with a clinical diagnosis of CLOVES syndrome; he passed away at 29 days of life. We discuss the complexities and limitations of genetic testing for somatic mosaic mutations in the prenatal period and highlight the potential need for multiple approaches to arrive at a molecular diagnosis. © 2014 Wiley Periodicals, Inc.

BackgroundCongenital anomalies are the consequence of a complex interaction between genetic predisposition and fetal environment. Based on the Congenital Anomalies Surveillance in Canada Report, between 1998 and 2007 the rate of congenital heart defects in Quebec was significantly higher than the Canadian average; no data on the overall prevalence of congenital anomalies for Quebec or data on regional variations in any province are available. ObjectivesTo estimate the prevalence of major congenital malformations (MCMs) in all of the 17 administrative regions of Quebec. MethodsUsing data from the Quebec Pregnancy Cohort, we included infants if they were born between January 1, 1998 and December 31, 2008. MCMs were identified within the infant's first year of life using validated ICD-9 and ICD-10 codes. The rate of MCMs was calculated and stratified on Quebec's administrative regions. ResultsAmong 152,353 eligible infants, the prevalence of MCMs was 36.6 (all rates were report...

Noncardiac components of genetic disorders can complicate the operative and postoperative courses of pediatric cardiac surgery patients. Prolonged hospital stay, increased treatment cost, morbidity, and death are more likely in this subgroup of patients. Ventricular septal defect, which is a component of various genetic disorders, has a 22.3% incidence in VACTERL syndrome--a rare, nonrandom pattern of birth defects. Herein, we discuss the impact of ventricular septal defect closure in a 4-month-old girl who was diagnosed after birth with VACTERL syndrome.

Pediatric temporomandibular joint dysfunction, resulting from either soft-tissue or skeletal disorders, may be congenital or acquired. Congenital temporomandibular joint disorders are uncommon. The authors review their experience with pediatric temporomandibular joint disorders and propose a new classification system. Clinical records, cephalograms, computed tomographic scans, magnetic resonance images, and pathologic specimens of all pediatric patients (younger than 18 years) with trismus or restricted mandibular excursion from 1976 to 2008 were reviewed. Cases were stratified according to soft-tissue or skeletal pathologic findings; skeletal abnormalities were further characterized as intracapsular or extracapsular. Thirty-eight patients, ranging in age from 1 day to 18 years at diagnosis, were identified with temporomandibular joint disorders. Ten cases (26.3 percent) were attributable to soft-tissue abnormality. The remaining 28 cases (73.7 percent) were attributable to skeletal abnormality, consisting of 14 congenital and 14 acquired cases (50 percent each). Acquired skeletal deformities included 12 intracapsular ankyloses (85.7 percent) and two extracapsular ankylosis (14.3 percent) (extraarticular bone blocks). Congenital skeletal deformities accounted for five intracapsular ankyloses (35.7 percent) and nine extracapsular ankyloses (64.3 percent). On initial survey, the data are consistent with published reports that attribute temporomandibular joint dysfunction to acquired abnormality (i.e., trauma and infection). However, the authors observed a significantly higher percentage (50 percent) of congenital temporomandibular joint skeletal disorders than previously reported. Most congenital cases involved extracapsular abnormality (i.e., coronoid hypertrophy); only a minority of cases had glenoid-condylar fibro-osseous fusion (i.e., intracapsular ankyloses). Because the diagnosis and classification of temporomandibular joint disorders determine treatment options, the authors provide a new classification that characterizes the extent of capsular involvement.

Birth defects (BD) constitute an important public health issue as they are the main cause of infant death. Their prevalence in Europe for 2008-2012 was 25.6 per 1000 newborns. To date, there are no population-based studies for the Russian Federation. The aim of the present study is to estimate the prevalence of BD, its forms, and changes over time in the Russian Arctic city of Monchegorsk (Murmansk County) for the period 1973-2011. The Murmansk County Birth Register and the Kola Birth Register were the primary sources of information, covering 30448 pregnancy outcomes in Monchegorsk (Murmansk County, Russia) during the study period. The total perinatal prevalence of BD was 36.1/1000 live births (LB) and stillborn (SB) (95% CI = 34.0-38.2). After exclusions of minor malformations according to the European Surveillance of Congenital Anomalies guidelines, it decreased to 26.5/1000 LB plus SB (95% CI = 24.6-28.3). The perinatal prevalence of BD that are obligatory to report in Russia was...

Netobimin (NTB) is a prodrug of albendazole (ABZ) and is used as a broad-spectrum anthelmintic both in human and veterinary medicine. Pregnant Sprague-Dawley rats were treated po with 50, 59.5 and 70.7 mg/kg of NTB on Gestational Day (GD) 10. The results, observed on GD ...

Structural defects of the posterior arch of the atlas are rare, and range from clefts of variable location and size to more extensive defects such as complete agenesis. These abnormalities are usually incidental radiological findings. We present a case of a fracture of the anterior arch of the atlas associated with a congenital abnormality of the posterior arch.

Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant brachydactyly type B (BDB,MIM 113000) or recessive Robinow syndrome (RRS, MIM 268310). In an attempt to model BDB in mice, the mutation W749X was engineered into the mouse Ror2 gene. In contrast to the human situation, mice heterozygous for Ror2W749FLAG are normal and do not develop brachydactyly,whereas homozygous mice exhibit features resembling RRS. Furthermore, both Ror2W749FLAG/W749FLAG and a previously engineered mutant, Ror2TMlacZ/TMlacZ, lack the P2/P3 joint. Absence of Gdf5 expression at the corresponding interzone suggests that the defect is in specification of the joint. As this phenotype is absent in mice lacking the entire Ror2 gene, it appears that specification of the P2/P3 joint is affected by ROR2 activity. Finally, Ror2W749FLAG/W749FLAG mice survive to adulthood and exhibit phenot...

Video-assisted thoracoscopic surgery is an alternative to open thoracotomy. We analyzed our experience during a consecutive series of 100 patients who had this procedure and who were available for study at 3-year followup. Video-assisted thoracoscopic surgery was done on patients with the following diagnoses: idiopathic scoliosis (n = 49), neuromuscular spinal deformity (n = 15), Scheuermann kyphosis (n = 15), congenital and infantile scoliosis (n = 5), neurofibromatosis (n = 5), Marfan (n = 1), postradiation scoliosis (n = 1), and repair of pseudoarthrosis (n = 1). Four patients had excision of the first rib to treat thoracic outlet syndrome. One patient had excision of an intrathoracic neurofibroma and one a benign rib tumor. One had anterior arthrodesis after fracture-dislocation of the thoracic spine and another had anterior fusion for vertebral osteomyelitis. The average operative time for the thoracoscopic anterior release with discectomy and arthrodesis was 253 minutes. The average number of discs excised was 8. Final postoperative scoliosis and kyphosis corrections were 68% and 90%, respectively. Complications related to thoracoscopy occurred in eight patients. Video-assisted thoracoscopic surgery provides a safe and effective alternative to open thoracotomy in the treatment of thoracic pediatric spinal deformities.

Hypomorphic mutation in one allele of ribosomal protein l24 gene (Rpl24) is responsible for the Belly Spot and Tail (Bst) mouse, which suffers from defects of the eye, skeleton, and coat pigmentation. It has been hypothesized that these pathological manifestations result exclusively from faulty protein synthesis. We demonstrate here that upregulation of the p53 tumor suppressor during the restricted period of embryonic development significantly contributes to the Bst phenotype. However, in the absence of p53 a large majority of Rpl24(Bst/+) embryos die. We showed that p53 promotes survival of these mice via p21-dependent mechanism. Our results imply that activation of a p53-dependent checkpoint mechanism in response to various ribosomal protein deficiencies might also play a role in the pathogenesis of congenital malformations in humans.

We evaluated the results of arthroscopic meniscectomy in patients with discoid lateral menisci of the knee. Discoid lateral menisci were detected in 308 patients, of whom 197 (124 males, 73 females; mean age 34.5 years, range 6-67) were clinically, radiologically, and arthroscopically found to be symptomatic and underwent partial meniscectomy. The average period between injury and operation was 13.2 months (range 6-52). The results were evaluated according to the Ikeuchi and Lysholm criteria. The mean follow-up was 57.8 months (range 24-138). The most common complaints were pain (66%) and joint line tenderness (61%). Widening of lateral joint space was the most common radiological finding (25%). The confirmation of diagnosis by magnetic resonance imaging was not congruent with arthroscopic results for some patients (31%). According to the Ikeuchi criteria, the results were excellent in 110 patients (56%), good in 53 (27%), fair in 26 (13%), and poor in 8 (4%). On the other hand, acc...

This paper highlights the hemiparkinsonism-hemiatrophy (HPHA) syndrome as a unique presentation of the parkinsonian state. Clinically relevant diagnostic and treatment aspects are reviewed. We report a case of HPHA, in a 21-year-old, otherwise healthy, woman. Clinical and radiographic features of our case are presented. We also review the current literature on the clinical, radiological and pathophysiological mechanisms of HPHA. In our case, despite the lack of benefit from anticholinergics and dopamine agonists (the patient declined treatment with levodopa), the patient showed a dramatic improvement with subthalamic nucleus stimulator (STN) implantation. There are no reported cases of use of STN stimulator in HPHA. Hemiparkinsonism-hemiatrophy is a distinct entity that may be clinically and pathogenetically different from idiopathic Parkinson's disease; hence, HPHA needs to be considered as a possible syndrome in patients that have persistent unilateral parkinsonism. As medicat...