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BMJ Case Reports Apr 2013Sprengel's deformity is a rare and complex congenital deformity of the shoulder girdle. The deformity commonly occurs sporadically, though in combination with other...
Sprengel's deformity is a rare and complex congenital deformity of the shoulder girdle. The deformity commonly occurs sporadically, though in combination with other congenital anomalies, such as congenital scoliosis, fusion of cervical vertebrae, and conditions like Klippel-Feil syndrome may coexist. We report a case of a 14-year-old girl with bilateral Sprengel's deformity presenting with a progressive bilateral lower limb weakness and gait abnormality. Radiological investigations demonstrated multiple musculoskeletal abnormalities on x-ray and lumbar spina bifida occulta causing tethering of the cord on MRI. The patient consulted neurosurgeons and orthopaedic surgeons, who recommended no operative intervention and conservative management till the end of growth spurt. Therefore, we prescribed a home-based exercise regimen to strengthen the periscapular and intrinsic foot muscles. Although rare, Sprengel's deformity can be associated with other musculoskeletal abnormalities including lumbar spina bifida and comprehensive neurological examination should not be ignored as it is much more than a cosmetic problem.
Topics: Abnormalities, Multiple; Adolescent; Congenital Abnormalities; Exercise Therapy; Female; Gait Disorders, Neurologic; Humans; Magnetic Resonance Imaging; Neural Tube Defects; Scapula; Scoliosis; Shoulder Joint
PubMed: 23605835
DOI: 10.1136/bcr-2013-009182 -
Neurology Mar 2021
Topics: Adolescent; Brain; Class I Phosphatidylinositol 3-Kinases; Drug Resistant Epilepsy; Face; Humans; Lipoma; Magnetic Resonance Imaging; Male; Musculoskeletal Abnormalities; Mutation; Neuroimaging; Nevus; Thorax; Vascular Malformations
PubMed: 33262231
DOI: 10.1212/WNL.0000000000010856 -
Canadian Family Physician Medecin de... Sep 1999To review indications, contraindications, and risks of using magnetic resonance imaging (MRI) in order to help primary care physicians refer patients appropriately for... (Comparative Study)
Comparative Study Review
OBJECTIVE
To review indications, contraindications, and risks of using magnetic resonance imaging (MRI) in order to help primary care physicians refer patients appropriately for MRI, screen for contraindications to using MRI, and educate patients about MRI.
QUALITY OF EVIDENCE
Recommendations are based on classic textbooks, the policies of our MRI group, and a literature search using MEDLINE with the MeSH headings magnetic resonance imaging, brain, musculoskeletal, and spine. The search was limited to human, English-language, and review articles. Evidence in favour of using MRI for imaging the head, spine, and joints is well established. For cardiac, abdominal, and pelvic conditions, MRI has been shown useful for certain indications, usually to complement other modalities.
MAIN MESSAGE
For demonstrating soft tissue conditions, MRI is better than computed tomography (CT), but CT shows bone and acute bleeding better. Therefore, patients with trauma or suspected intracranial bleeding should have CT. Tumours, congenital abnormalities, vascular structures, and the cervical or thoracic spine show better on MRI. Either modality can be used for lower back pain. Cardiac, abdominal, and pelvic abnormalities should be imaged with ultrasound or CT before MRI. Contraindications for MRI are mainly metallic implants or shrapnel, severe claustrophobia, or obesity.
CONCLUSIONS
With the increasing availability of MRI scanners in Canada, better understanding of the indications, contraindications, and risks will be helpful for family physicians and their patients.
Topics: Adult; Bone Diseases; Cerebral Hemorrhage; Congenital Abnormalities; Contraindications; Costs and Cost Analysis; Family Practice; Heart Diseases; Humans; Low Back Pain; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Male; Neoplasms; Patient Education as Topic; Patient Selection; Spinal Diseases; Tomography, X-Ray Computed; Ultrasonography
PubMed: 10509224
DOI: No ID Found -
Genetics in Medicine : Official Journal... Jan 2022Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial...
PURPOSE
Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor syndrome (STISS). Investigations showed that pathogenic variants in PSMD12 perturb intracellular protein homeostasis. Our objective was to further explore the clinical and molecular phenotypic spectrum of STISS.
METHODS
We report 24 additional unrelated patients with STISS with various truncating single nucleotide variants or copy-number variant deletions involving PSMD12. We explore disease etiology by assessing patient cells and CRISPR/Cas9-engineered cell clones for various cellular pathways and inflammatory status.
RESULTS
The expressivity of most clinical features in STISS is highly variable. In addition to previously reported DD/ID, speech delay, cardiac and renal anomalies, we also confirmed preaxial hand abnormalities as a feature of this syndrome. Of note, 2 patients also showed chilblains resembling signs observed in interferonopathy. Remarkably, our data show that STISS patient cells exhibit a profound remodeling of the mTORC1 and mitophagy pathways with an induction of type I interferon-stimulated genes.
CONCLUSION
We refine the phenotype of STISS and show that it can be clinically recognizable and biochemically diagnosed by a type I interferon gene signature.
Topics: Haploinsufficiency; Humans; Intellectual Disability; Language Development Disorders; Musculoskeletal Abnormalities; Phenotype
PubMed: 34906456
DOI: 10.1016/j.gim.2021.09.005 -
Journal of Vascular Surgery Sep 2013The purpose of this study was to review the available literature regarding the biomechanics of the superficial femoral artery (SFA) and popliteal artery (PA) in patients... (Review)
Review
OBJECTIVE
The purpose of this study was to review the available literature regarding the biomechanics of the superficial femoral artery (SFA) and popliteal artery (PA) in patients with peripheral arterial disease (PAD). Stents are one of many available therapies used to treat patients with PAD. Because stents are permanent implants, they undergo a variety of deformations as patients go about their daily activities such as walking, sitting in a chair, or climbing stairs. As a part of the marketing application for United States Food and Drug Administration approval, stents need to be evaluated for long-term durability under a variety of loading modes. The information available in the literature provides direction for such evaluation.
METHODS
We performed a literature search of the PubMed database looking for "key vessel" and "mechanics" (all fields) or "deformation" (all fields) or "flexion" (all fields) or "mechanical environment" (all fields) or "tortuosity" (all fields) or "dynamics" (all fields) or "forces" (all fields), where the "key vessel" was "Femoral Artery," "Superficial Femoral Artery," "Popliteal Artery," and "Femoropopliteal."
RESULTS
Using a decision tree, we found 12 relevant articles that focused solely on the nonradial cyclic deformations associated with musculoskeletal motion. Despite the many limitations associated with combining these studies, we learned that under walking conditions, the proximal and mid-SFA deforms, on average, by shortening in the axial direction 4.0%, by twisting 2.1°/cm, and by bending 72.1 mm; the distal SFA and proximal PA deform by shortening in the axial direction 13.9%, by twisting 3.5°/cm, and by being pinched such that the aspect ratio of the lumen changes 4.6%. The distal PA deforms by shortening in the axial direction 12.3%, by twisting 3.5°/cm, by bending 22.1 mm, and by being pinched such that the aspect ratio of the lumen changes 12.5%.
CONCLUSIONS
A review of the current literature reveals heterogeneous study designs that confound interpretation. Studies included different physiologic settings from young to mature participants, participants with and without disease, and cadavers. Investigators used a range of imaging modalities and definitions of arterial segments, which affected our ability to compile the data as we learned that deformations vary according to the specific anatomic location within the SFA/PA. As a result of this analysis, we identified design considerations for future studies, because although this work has been valuable and significant, there are many limitations with the currently available data such that all we know about the SFA/PA environment is that we don't know.
Topics: Biomechanical Phenomena; Decision Trees; Endovascular Procedures; Femoral Artery; Hemodynamics; Humans; Peripheral Arterial Disease; Popliteal Artery; Prosthesis Design; Prosthesis Failure; Stents; Stress, Mechanical; Walking
PubMed: 23870198
DOI: 10.1016/j.jvs.2013.03.052 -
Orthopaedic Surgery Sep 2022Cervicothoracic scoliosis will cause severe deformities in the early stage, and its structure is complex and the surgical methods are varied. The purpose of this...
OBJECTIVE
Cervicothoracic scoliosis will cause severe deformities in the early stage, and its structure is complex and the surgical methods are varied. The purpose of this research is to explore the indication and analyze the corrective effect of the two different posterior approach surgical strategies, including correction with fusion and hemivertebra osteotomy, for congenital cervicothoracic scoliosis deformities in children and adolescents.
METHODS
This was a retrospective study of 21 patients with cervicothoracic scoliosis who received surgical treatment from January 2010 to June 2020, including nine cases of posterior hemivertebra osteotomy and fusion surgery and 12 cases of posterior correction and fusion alone. The Cobb angle, T1 tilt angle, clavicular angle, neck tilt angle, radiographic shoulder height, sagittal vertical axis, coronal balance distance, and local kyphosis angle were measured preoperatively, postoperatively, and at the last follow-up. Posterior approach hemivertebra resection or correction with fusion surgery was adopted based on the different individual characteristics of deformity such as main curve Cobb angle, growth potential, and flexibility. Patients were divided into two groups (osteotomy group and nonosteotomy group) according to whether a hemivertebra osteotomy was performed, and the corrective results in the two groups were compared. Paired-sample t tests or independent-sample t tests were used.
RESULTS
The median follow-up after surgery of the 21 patients was 36 months (range, 18-72 months). The Cobb angle was corrected from 45.81° ± 14.23° preoperatively to 10.48° ± 5.56° postoperatively (correction rate, 77.78% ± 8.93%). The T1 tilt angle decreased from 15.26° ± 7.08° preoperatively to 3.33° ± 2.14° postoperatively (correction rate,73.42% ± 21.86%). The radiographic shoulder height was corrected from 1.13 ± 0.74 cm preoperatively to 0.52 ± 0.42 cm postoperatively (correction rate, 39.51% ± 35.65%). The clavicular angle improved from 2.52° ± 1.55° preoperatively to 1.16° ± 0.96° postoperatively (correction rate, 47.18% ± 35.84%). No significant differences were found at the last follow-up (p > 0.05). The Cobb angle of the main curve, T1 tilt angle, clavicular angle, cervical tilt angle, and shoulder height difference were similar in the two groups (p > 0.05).
CONCLUSIONS
Posterior approach hemivertebra resection or correction with fusion surgery can be used in the treatment of congenital cervicothoracic scoliosis with satisfactory results, and the surgeon can make an individualized surgical plan according to individual characteristics of deformity.
Topics: Adolescent; Child; Follow-Up Studies; Humans; Musculoskeletal Abnormalities; Osteotomy; Retrospective Studies; Scoliosis; Spinal Fusion; Thoracic Vertebrae; Treatment Outcome
PubMed: 36040110
DOI: 10.1111/os.13480 -
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 -
Joint Diseases and Related Surgery 2021Bilateral congenital knee dislocation is a rare deformity which may present with other musculoskeletal abnormalities. In the early period, conservative treatment options...
Bilateral congenital knee dislocation is a rare deformity which may present with other musculoskeletal abnormalities. In the early period, conservative treatment options have a high chance of success. However, in later stages, surgical treatment is indicated in neglected or unresponsive cases to manipulation in the early period. Herein, we present a rare case of bilateral congenital knee dislocation which was diagnosed after birth. Retrospective examination revealed that it occurred in the antenatal period and neglected.
Topics: Female; Humans; Infant, Newborn; Knee Dislocation; Lower Extremity Deformities, Congenital; Pregnancy; Turkey
PubMed: 34145837
DOI: 10.52312/jdrs.2021.79966 -
Birth Defects Research Nov 2019While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have... (Review)
Review
BACKGROUND
While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have been relatively few genome-wide association studies (GWAS) of these conditions. We reviewed the current landscape of GWAS conducted for birth defects, noting novel insights, and future directions.
METHODS
This article reviews the literature with regard to GWAS of structural birth defects. Key defects included in this review include oral clefts, congenital heart defects (CHDs), biliary atresia, pyloric stenosis, hypospadias, craniosynostosis, and clubfoot. Additionally, other issues related to GWAS are considered, including the assessment of polygenic risk scores and issues related to genetic ancestry, as well as utilizing genome-wide single nucleotide polymorphism array data to evaluate gene-environment interactions and Mendelian randomization.
RESULTS
For some birth defects, including oral clefts and CHDs, several novel susceptibility loci have been identified and replicated through GWAS, including 8q24 for oral clefts, DGKK for hypospadias, and 4p16 for CHDs. Relatively common birth defects for which there are currently no published GWAS include neural tube defects, anotia/microtia, anophthalmia/microphthalmia, gastroschisis, and omphalocele.
CONCLUSIONS
Overall, GWAS have been successful in identifying several novel susceptibility genes and genomic regions for structural birth defects. These findings have provided new insights into the etiologies of these phenotypes. However, GWAS have been underutilized for understanding the genetic etiologies of several birth defects.
Topics: Cardiovascular Abnormalities; Congenital Abnormalities; Eye Abnormalities; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Musculoskeletal Abnormalities; Nervous System Malformations; Otorhinolaryngologic Diseases
PubMed: 31654503
DOI: 10.1002/bdr2.1606 -
British Journal of Clinical Pharmacology Oct 2017To investigate the safety of fluoxetine use during pregnancy, and to better understand the relationship between maternal fluoxetine use during the first trimester and... (Meta-Analysis)
Meta-Analysis Review
AIMS
To investigate the safety of fluoxetine use during pregnancy, and to better understand the relationship between maternal fluoxetine use during the first trimester and congenital malformations in infants.
METHODS
PubMed and Web of Science databases were systematically searched from inception to 21 March 2016. Additional studies were identified in a manual search of the reference lists. Two reviewers independently extracted data. A third reviewer checked the data. Estimates were pooled using a random-effects model to calculate the summarized relative ratios (RR) and 95% confidence intervals (CI).
RESULTS
Among 1918 initially identified articles, 16 cohort studies were included. The offspring of pregnant women exposed to fluoxetine during the first trimester had a statistically increased risk of major malformations (RR = 1.18, 95% CI = 1.08-1.29), cardiovascular malformations (RR = 1.36, 95% CI = 1.17-1.59), septal defects (RR = 1.38, 95% CI = 1.19-1.61), and non-septal defects (RR = 1.39, 95% CI = 1.12-1.73) with low heterogeneity in infants. There were no significant observations of other system-specific malformations in the nervous system, eye, urogenital system, digestive system, respiratory system, or musculoskeletal system, respectively. There was no indication of publication bias.
CONCLUSIONS
The results of this meta-analysis indicate maternal fluoxetine use is associated with a slightly increased risk of cardiovascular malformations in infants. Health care providers and pregnant women must weigh the risk-benefit potential of these drugs when making decisions about whether to treat with fluoxetine during pregnancy.
Topics: Abnormalities, Drug-Induced; Antidepressive Agents, Second-Generation; Depression; Female; Fluoxetine; Heart Septal Defects; Humans; Incidence; Infant; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Publication Bias
PubMed: 28513059
DOI: 10.1111/bcp.13321