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The Indian Journal of Medical Research Jan 2016Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the... (Review)
Review
Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postural and striatal deformities. Usually these deformities are more common in atypical parkinsonian disorders such as progressive supranuclear palsy and multisystem atrophy. But in many studies it has been highlighted that these may also be present in approximately one third of PD patients leading to severe disability. These include antecollis or dropped head, camptocormia, p0 isa syndrome, scoliosis, striatal hands and striatal toes. The pathogenesis of these deformities is a complex combination of central and peripheral influences such as rigidity, dystonia and degenerative skeletal changes. Duration of parkinsonism symptoms is an important risk factor and in majority of the patients these deformities are seen in advanced statge of the disease. The patients with such symptoms may initially respond to dopaminergic medications but if not intervened they may become fixed and difficult to treat. Pain and restriction of movement are most common clinical manifestations and these may mimick symptoms of musculoskeletal disorders like rheumatoid arthritis. Early diagnosis is important as the patients may respond to adjustment in dopaminergic medications. Recent advances such as deep brain stimulation (DBS) and ultrasound guided botulinum toxin injection are helpful in management of these deformities in patients with PD.
Topics: Brain; Congenital Abnormalities; Corpus Striatum; Humans; Parkinson Disease; Posture
PubMed: 26997007
DOI: 10.4103/0971-5916.178577 -
European Journal of Medical Research Feb 2021Clubfeet and constriction band syndrome is a very rare non-idiopathic condition. Treatment is often difficult and the recurrence deformity rate is high. The purpose of...
BACKGROUND
Clubfeet and constriction band syndrome is a very rare non-idiopathic condition. Treatment is often difficult and the recurrence deformity rate is high. The purpose of this study was to assess the effectiveness of Ponseti method in the treatment of congenital constriction band syndrome accompanied by clubfoot deformity and lymphedema.
CASE PRESENTATION
We are presenting an interesting case of bilateral clubfeet and congenital circumferential constriction band syndrome in the lower limb. Ponseti method of correcting the congenital clubfoot deformity was applied. Constriction band release is accomplished by two stages completely excising the fibrous band and multiple two-stage Z-plasties on the right calf.
CONCLUSION
The results of this study indicate that the Ponseti method of gentle, systematic manipulation and weekly cast changes is an effective treatment of non-idiopathic clubfoot distal to congenital amniotic constriction band.
Topics: Abnormalities, Multiple; Amniotic Band Syndrome; Clubfoot; Follow-Up Studies; Humans; Infant, Newborn; Male; Musculoskeletal Manipulations
PubMed: 33593432
DOI: 10.1186/s40001-021-00492-z -
Journal of Pediatric Surgery Mar 2023Increased risk of scoliosis and musculoskeletal abnormalities in adolescents with esophageal atresia (EA) is reported, but the impact of these abnormalities on physical...
BACKGROUND
Increased risk of scoliosis and musculoskeletal abnormalities in adolescents with esophageal atresia (EA) is reported, but the impact of these abnormalities on physical fitness and motor skills are not known.
METHODS
Scoliosis was assessed radiographically and shoulder and chest abnormalities by a standardized protocol. Physical fitness was evaluated with Grippit, Six-minute walk test, and International Physical Activity Questionnaire and motor skills by Motor Assessment Battery for Children.
RESULTS
Sixty-seven EA adolescents median 16 (13-20) years participated. The prevalence of significant scoliosis (≥ 20º) was 12% (8/67) whereas 22% (15/67) had mild scoliosis (10-19º). Vertebral anomalies occurred in 18/67 (27%), eight of them (44%) had scoliosis. The majority of adolescents (15/23) with scoliosis did not have vertebral anomalies. Musculoskeletal abnormalities were detected in 22-78%. Balance problems occurred three times more frequently than expected (44% vs. 15%, p = 0.004). Submaximal exercise capacity was significantly reduced compared to reference values (p < 0.001). Scoliosis ≥ 20º was related to reduced physical activity (p = 0.008), and musculoskeletal abnormalities to reduced physical activity and impaired motor skills (p = 0.042 and p < 0.038, respectively).
CONCLUSIONS
Significant scoliosis was diagnosed in 12% of the EA adolescents and related to reduced physical activity. Musculoskeletal abnormalities identified in more than half of the patients, were related to reduced physical activity and impaired motor skills, and exercise capacity was significantly below reference group. EA patients with and without vertebral anomalies need health-promoting guidance to prevent impaired motor skills and consequences of reduced physical activity.
LEVEL OF EVIDENCE
Prognostic Study, Level II.
Topics: Child; Humans; Adolescent; Scoliosis; Esophageal Atresia; Prevalence; Musculoskeletal Abnormalities
PubMed: 36384939
DOI: 10.1016/j.jpedsurg.2022.10.002 -
Archivos Argentinos de Pediatria Jun 2023Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or...
Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.
Topics: Humans; Klippel-Feil Syndrome; Duane Retraction Syndrome; Deafness; Abnormalities, Multiple
PubMed: 36413195
DOI: 10.5546/aap.2022-02624.eng -
The British Journal of Radiology Apr 2022To determine the additional benefit of MRI for children with flatfoot deformity assessed with weight-bearing radiographs in a specialist paediatric orthopaedic unit.
OBJECTIVE
To determine the additional benefit of MRI for children with flatfoot deformity assessed with weight-bearing radiographs in a specialist paediatric orthopaedic unit.
METHODS AND MATERIALS
Patient cohort was obtained by searching the Radiology Information System for children referred for investigation of flatfoot. All patients with flatfoot on weight-bearing radiographs who had undergone MRI were included. Radiographs were classified by a consultant musculoskeletal radiologist as showing no underlying abnormality, talo-calcaneal coalition, calcaneonavicular coalition, accessory navicular or other abnormality. MRI studies were classified similarly by a different consultant musculoskeletal radiologist blinded to the radiographic findings.
RESULTS
33 males and 24 females were included (mean age 12.5 years; range 3-18 years). 24 had bilateral abnormality, so 81 feet were assessed. Radiographs showed no specific abnormality ( = 51), talocalcaneal coalition ( = 6), calcaneonavicular coalition ( = 3), os naviculare ( = 12) or other abnormality ( = 9). MRI showed no specific abnormality ( = 40), talocalcaneal coalition ( = 10), calcaneonavicular coalition ( = 5), os naviculare ( = 12) or other abnormality ( = 14). Assuming MRI as the diagnostic gold-standard, additional relevant diagnostic information was identified in 19 (23.5%) cases, while in the 51 cases for which radiographs provided no specific diagnosis MRI confirmed no underlying abnormality in 31 (60.8%).
CONCLUSION
MRI is a valuable adjunct to weight-bearing radiography for investigating paediatric flatfoot deformity.
ADVANCES IN KNOWLEDGE
MRI is of value in the assessment of paediatric flatfoot, additional diagnostic information to radiography being identified in 23.5% cases, while in 60.8% of cases for which radiographs provided no specific diagnosis MRI confirmed no underlying abnormality.
Topics: Adolescent; Child; Child, Preschool; Female; Flatfoot; Humans; Magnetic Resonance Imaging; Male; Radiography; Retrospective Studies; Synostosis; Tarsal Bones
PubMed: 34919445
DOI: 10.1259/bjr.20210784 -
Fertility and Sterility Feb 2017In this article we review the epidemiologic evidence for adverse health effects in offspring of fathers of advanced age. First the evidence regarding fetal survival is... (Review)
Review
In this article we review the epidemiologic evidence for adverse health effects in offspring of fathers of advanced age. First the evidence regarding fetal survival is addressed, and afterward we review the evidence regarding morbidity in children with older fathers. The adverse conditions most consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, acute lymphoblastic leukemia and retinoblastoma, and neurodevelopmental disorders in the autism spectrum and schizophrenia. Finally, we consider the public health impact of the increasing paternal age. We conclude that the adverse health effects in children that might be caused by the present increase in paternal age are severe but quantitatively of minor importance. However, identification of morbidities that are more frequent in offspring of older fathers, after having taken any maternal age effects and other confounding into account, may lead to a better understanding of the pathogenesis behind such conditions.
Topics: Age Factors; Congenital Abnormalities; Female; Humans; Live Birth; Male; Neoplasms; Neurodevelopmental Disorders; Paternal Age; Pregnancy; Pregnancy Outcome; Risk Assessment; Risk Factors; Stillbirth
PubMed: 28088314
DOI: 10.1016/j.fertnstert.2016.12.019 -
Jornal de Pediatria 2016The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD) in children. The diagnosis of this disease in Brazil is... (Review)
Review
OBJECTIVE
The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD) in children. The diagnosis of this disease in Brazil is late and incomplete, which results in increased morbidity and mortality in this age group. Early diagnosis of this condition is the prerogative of generalist pediatricians, and the aim of this study was to review the clinical signs and symptoms associated with developmental abnormalities of the genitourinary tract.
DATA SOURCES
Based on the description of a symbolic clinical case, the authors conducted a non-systematic review of medical literature.
DATA SYNTHESIS
The results suggest that the following data should be used as a warning for early diagnosis of affected children: (a) combined urinary tract abnormalities (chromosomal abnormalities; sequence of malformations [VACTERLand Prune-Belly]; and musculoskeletal, digestive tract, heart, and nervous system malformations); (b) previous history (congenital anomalies of the kidney and urinary tract [CAKUT] in the family, low birth weight, and oligoamnios); (c) clinical signs (polyuria/nocturia, urinary tract infection, systemic arterial hypertension, failure to thrive, weak urinary stream, difficulty to start urination, distended bladder, non-monosymptomatic enuresis, urinary/urge incontinence, and bowel and bladder dysfunction); and (d) pre- and postnatal ultrasonographic alterations (increased anteroposterior diameter of the renal pelvis, mainly in the third trimester of pregnancy; single kidney; hydronephrosis associated with other abnormalities; and hydronephrosis with parenchymal involvement in the post-neonatal assessment).
CONCLUSION
The suggestions shown here can help the pediatrician to establish clinical hypotheses for the early diagnosis of developmental abnormalities of the genitourinary tract without resorting to expensive and invasive procedures.
Topics: Brazil; Child; Early Diagnosis; Humans; Hydronephrosis; Kidney; Renal Insufficiency, Chronic; Risk Factors; Ultrasonography; Urogenital Abnormalities
PubMed: 26994452
DOI: 10.1016/j.jped.2016.01.006 -
American Journal of Human Genetics Sep 1983Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new...
Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal implantation of the thumb, increased space between the first and second fingers, and excess digital creases. Marfan syndrome was a provisional diagnosis for several cases prior to cytogenetic analysis. Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal bridge, small mouth, thin upper lip with down-turned corners, and slight retrognathia. In older children, retrognathia is diminished and the nose becomes long and narrow. The new culture and chromosome banding techniques enable sorting of cases with the distal dup 9q phenotype into two groups. The cases with a longer dup 9q are more likely to develop with life-threatening congenital anomalies. The cases with the shorter dup 9q34 have a less severe long-term prognosis and will benefit, together with their parents, from special education. Female carriers of the inv ins(9) (q22.1q34.3q34.1) have about a 31% risk in each pregnancy to conceive a fetus affected by the dup 9q34 syndrome. A comparable figure is not yet available for male carriers.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Chromosome Aberrations; Chromosome Banding; Chromosome Inversion; Chromosomes, Human, 6-12 and X; Consanguinity; Female; Heterozygote; Humans; Infant, Newborn; Karyotyping; Male; Middle Aged; Newfoundland and Labrador; Pedigree; Psychomotor Disorders; Risk; Syndrome
PubMed: 6613995
DOI: No ID Found -
Journal of Biomechanics Aug 2009The longitudinal growth of long bones occurs in growth plates where chondrocytes synthesize cartilage that is subsequently ossified. Altered growth and subsequent... (Review)
Review
The longitudinal growth of long bones occurs in growth plates where chondrocytes synthesize cartilage that is subsequently ossified. Altered growth and subsequent deformity resulting from abnormal mechanical loading is often referred to as mechanical modulation of bone growth. This phenomenon has key implications in the progression of infant and juvenile musculoskeletal deformities, such as adolescent idiopathic scoliosis, hyperkyphosis, genu varus/valgus and tibia vara/valga, as well as neuromuscular diseases. Clinical management of these deformities is often directed at modifying the mechanical environment of affected bones. However, there is limited quantitative and physiological understanding of how bone growth is regulated in response to mechanical loading. This review of published work addresses the state of knowledge concerning key questions about mechanisms underlying biomechanical modulation of bone growth. The longitudinal growth of bones is apparently controlled by modifying the numbers of growth plate chondrocytes in the proliferative zone, their rate of proliferation, the amount of chondrocytic hypertrophy and the controlled synthesis and degradation of matrix throughout the growth plate. These variables may be modulated to produce a change in growth rate in the presence of sustained or cyclic mechanical load. Tissue and cellular deformations involved in the transduction of mechanical stimuli depend on the growth plate tissue material properties that are highly anisotropic, time-dependent, and that differ in different zones of the growth plate and with developmental stages. There is little information about the effects of time-varying changes in volume, water content, osmolarity of matrix, etc. on differentiation, maturation and metabolic activity of chondrocytes. Also, the effects of shear forces and torsion on the growth plate are incompletely characterized. Future work on growth plate mechanobiology should distinguish between changes in the regulation of bone growth resulting from different processes, such as direct stimulation of the cell nuclei, physico-chemical stimuli, mechanical degradation of matrix or cellular components and possible alterations of local blood supply.
Topics: Biomechanical Phenomena; Cell Proliferation; Chondrocytes; Growth Plate; Humans; Musculoskeletal Abnormalities
PubMed: 19540500
DOI: 10.1016/j.jbiomech.2009.05.021 -
American Journal of Medical Genetics.... May 2021The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and...
The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. The most common cardiovascular abnormalities include pulmonary valvular stenosis and hypertrophic cardiomyopathy. Congenital polyvalvular disease (CPVD) refers to congenital dysplasia of two or more cardiac valves. We diagnosed a RASopathy in two individuals with CPVD and noted that CPVD in RASopathies has rarely been reported in the literature. Thus, we performed a retrospective chart review and literature review to investigate the association and characterize the phenotype of CPVD in the RASopathies. CPVD was present in 2.5% (n = 6/243) of individuals in our RASopathy cohort. Involvement of two cardiac valves, commonly the aortic and pulmonic valves, was seen in the majority of individuals (6/8; 75%) in our cohort, but only 27% (3/11) of reported CPVD and RASopathy cases in the literature. CPVD should be considered an associated cardiovascular phenotype of the RASopathies, which has implications for diagnosis and management.
Topics: Adolescent; Aortic Valve; Cardiomyopathy, Hypertrophic; Cardiovascular Abnormalities; Child; Child, Preschool; Dwarfism; Facies; Female; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Male; Musculoskeletal Abnormalities; Noonan Syndrome; Phenotype; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Proto-Oncogene Proteins B-raf; Pulmonary Valve Stenosis; Skin Abnormalities; ras Proteins
PubMed: 33683002
DOI: 10.1002/ajmg.a.62146