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Journal of Clinical Imaging Science 2024Many clinicians use radiological imaging in efforts to locate and diagnose the cause of their patient's pain, relying on X-rays as a leading tool in clinical evaluation.... (Review)
Review
Many clinicians use radiological imaging in efforts to locate and diagnose the cause of their patient's pain, relying on X-rays as a leading tool in clinical evaluation. This is fundamentally flawed because an X-ray represents a "snapshot" of the structural appearance of the spine and gives no indication of the current function of the spine. The health and well-being of any system, including the spinal motion segments, depend on the inter-relationship between structure and function. Pain, tissue damage, and injury are not always directly correlated. Due to such a high incidence of abnormalities found in asymptomatic patients, the diagnostic validity of X-rays can be questioned, especially when used in isolation of history and/or proper clinical assessment. The utility of routine X-rays is, therefore, questionable. One may posit that their application promotes overdiagnosis, and unvalidated treatment of X-ray findings (such as changes in postural curvature), which may mislead patients into believing these changes are directly responsible for their pain. A substantial amount of research has shown that there is no association between pain and reversed cervical curves. Accuracy can also be questioned, as X-ray measurements can vary based on the patient's standing position, which research shows is influenced by an overwhelming number of factors, such as patient positioning, patient physical and morphological changes over time, doctor interreliability, stress, pain, the patient's previous night's sleep or physical activity, hydration, and/or emotional state. Furthermore, research has concluded that strong evidence links various potential harms with routine, repeated X-rays, such as altered treatment procedures, overdiagnosis, radiation exposure, and unnecessary costs. Over the past two decades, medical boards and health associations worldwide have made a substantial effort to communicate better "when" imaging is required, with most education around reducing radiographic imaging. In this review, we describe concerns relating to the high-frequency, routine use of spinal X-rays in the primary care setting for spine-related pain in the absence of red-flag clinical signs.
PubMed: 38841311
DOI: 10.25259/JCIS_5_2024 -
SA Journal of Radiology 2024Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic...
UNLABELLED
Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and 'café au lait' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome.
CONTRIBUTION
Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.
PubMed: 38840825
DOI: 10.4102/sajr.v28i1.2877 -
Spine Deformity Jun 2024The Spinal Appearance Questionnaire (SAQ) is a widely validated tool for assessing perceptions of spinal deformity in adolescent idiopathic scoliosis (AIS) patients....
PURPOSE
The Spinal Appearance Questionnaire (SAQ) is a widely validated tool for assessing perceptions of spinal deformity in adolescent idiopathic scoliosis (AIS) patients. This study aimed to develop and validate a Greek version of the SAQ (GR-SAQ).
METHODS
A cross-cultural adaptation of the SAQ following international guidelines was performed. Internal consistency and test-retest reliability were evaluated. Convergent validity was assessed by correlating the GR-SAQ with the Appearance domain of Scoliosis Research Society-22 (SRS-22) and the Cobb angle with the Trunk Shift domain of GR-SAQ. Divergent validity was examined through the relationship between GR-SAQ, patient characteristics, and clinical measures including Cobb angle, DIERS Formetric 4D angle, and scoliometer readings.
RESULTS
The study included 61 AIS patients (52 females, 13.91 ± 2.57 years, 25.33 ± 10.14° Cobb angle). GR-SAQ exhibited good internal consistency (Cronbach's α = 0.794) and excellent test-retest reliability (ICC = 0.931, 95%CI: 0.880-0.960). Correlations between GR-SAQ and SRS-22 showed a low-to-moderate negative correlation (r = -0.351, p = 0.006). The Trunk Shift domain moderately correlated with the Cobb Angle (r = 0.393, p = 0.002). Divergent validity analyses did not demonstrate statistical significance (p > 0.05).
CONCLUSION
The GR-SAQ is a valid and reliable tool for evaluating spinal deformity perception in Greek AIS patients.
PubMed: 38833190
DOI: 10.1007/s43390-024-00907-x -
Abdominal Radiology (New York) Jun 2024As the use of cross-sectional abdominal and pelvic imaging has increased exponentially in the past several decades, incidental musculoskeletal findings have become... (Review)
Review
As the use of cross-sectional abdominal and pelvic imaging has increased exponentially in the past several decades, incidental musculoskeletal findings have become commonplace. These are often unrelated to the indication for the examination and are frequently referred to as the "radiologist's blind spot" on these studies. The differential diagnosis for abnormalities of the paraspinal and pelvic musculature is, in many cases, quite different from the anterior abdominal wall muscles. Furthermore, due to their relatively deep location, pathology involving the former muscle groups is more likely to be clinically occult, often presenting only incidentally when the patient undergoes cross-sectional imaging. Effective treatment of diseases of these muscles is dependent on adherence to a diverse set of diagnostic and treatment algorithms. The purpose of this review article is to familiarize the radiologist with the unique pathology of these often-overlooked muscles of the abdomen and pelvis.
PubMed: 38831073
DOI: 10.1007/s00261-024-04365-x -
The Lancet. Rheumatology Jul 2024IgG4-related disease is a multiorgan fibroinflammatory disease considered to have an autoimmune origin. Case series describing individual organ involvement have...
Sex as a predictor of clinical phenotype and determinant of immune response in IgG4-related disease: a retrospective study of patients fulfilling the American College of Rheumatology-European League Against Rheumatism classification criteria.
BACKGROUND
IgG4-related disease is a multiorgan fibroinflammatory disease considered to have an autoimmune origin. Case series describing individual organ involvement have suggested differences in phenotypic expression between males and females. We aimed to characterise differences in IgG4-related disease manifestations between male and female patients in a large single-centre cohort.
METHODS
In this retrospective, single-centre cohort study, patients were recruited from the Massachusetts General Hospital Rheumatology Clinic (Boston, MA, USA) and classified according to the American College of Rheumatology-European Alliance of Associations for Rheumatology (ACR-EULAR) classification criteria. Only patients satisfying the ACR-EULAR classification criteria were included in the study. Data on age at diagnosis, organ involvement at baseline, treatment status, and pre-treatment laboratory values were collected. Circulating plasmablasts and B-cell subsets were quantitated by flow cytometry. Active disease was defined by an IgG4-related disease Responder Index score of more than 0. Laboratory values were analysed for patients who were untreated at baseline and had active IgG4-related disease. The main outcomes were assessed in all participants with available data.
FINDINGS
Of the 564 participants enrolled in the Massachusetts General Hospital Rheumatology Clinic IgG4-related disease Registry, 328 fulfilled ACR-EULAR classification criteria and were included between January, 2008, and May, 2023. There was a strong male predominance (male:female ratio 2·2:1) with 226 (69%) males and 102 (31%) females, which contrasted markedly with our general rheumatology clinic population (0·4:1; p<0·001). The male predominance increased with each decade of life starting at age 40 years. On average, male patients were 5·5 years older at diagnosis than female patients (63·7 years vs 58·2 years; p=0·0031). We observed male patients to have higher ACR-EULAR classification criteria scores at baseline with a median score of 35·0 (IQR 28·0-46·0), compared with 29·5 (25·0-39·0) for females (p=0·0010). The proportion of male patients with pancreatic and renal involvement was almost double the proportion observed in female patients (50% of the male patients had pancreatic involvement, compared with about 26% of the female patients; p<0·0001). Male patients were more likely to have serological abnormalities at baseline. The distribution of IgG4 values differed significantly between male an female sexes, favouring higher values in males. We found that male patients with IgG4-related disease were more likely to have active B-cell responses in the blood as defined by plasmablast expansions.
INTERPRETATION
IgG4-related disease is unusual among autoimmune diseases in that it is more likely to affect males than females and to present with a striking sex-dependent organ distribution and degree of B-cell response. These findings highlight important variation between IgG4-related disease and other conditions generally believed to have an autoimmune basis. Most autoimmune diseases, by contrast to IgG4-related disease, demonstrate pronounced predilections for affecting females more frequently than males. Hypotheses surrounding the cause and pathophysiology of this condition need to consider this unusual sex distribution among patients with IgG4-related disease.
FUNDING
National Institutes of Health, National Institute of Allergy and Infectious Diseases, Rheumatology Research Foundation, and the National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Topics: Humans; Male; Female; Retrospective Studies; Middle Aged; Immunoglobulin G4-Related Disease; Sex Factors; Phenotype; Aged; Adult; Immunoglobulin G
PubMed: 38824935
DOI: 10.1016/S2665-9913(24)00089-4 -
European Journal of Human Genetics :... Jun 2024STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and susceptibility to malignant...
STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, hypotonia, musculoskeletal and palatal anomalies, and susceptibility to malignant hyperthermia. A STAC3 c.851 G > C (p.Trp284Ser) pathogenic variant, common in the Lumbee Native American tribe, has been identified in other populations worldwide, including patients of African ancestry. We report on the frequency of STAC3 c.851 G > C in a cohort of 127 patients presenting with congenital hypotonia that tested negative for spinal muscular atrophy and/or Prader-Willi syndrome. We present a clinical retrospective, descriptive review on 31 Southern African patients homozygous for STAC3 c.851 G > C. The frequencies of various phenotypic characteristics were calculated. In total, 25/127 (20%) laboratory-based samples were homozygous for STAC3 c.851 G > C. A carrier rate of 1/56 and a predicted birth rate of 1/12 500 was estimated from a healthy cohort. A common haplotype spanning STAC3 was identified in four patients. Of the clinical group, 93% had a palatal abnormality, 52% a spinal anomaly, 59% had talipes equinovarus deformity/deformities, 38% had arthrogryposis multiplex congenita, and 22% had a history suggestive of malignant hyperthermia. The novel finding that STAC3 disorder is a common African myopathy has important clinical implications for the diagnosis, treatment and genetic counselling of individuals, with neonatal and/or childhood hypotonia with or without arthrogryposis multiplex congenita, and their families. The spread of this variant worldwide and the allele frequency higher in the African/African-American ancestry than the Admixed Americans, strongly indicates that the STAC3 c.851 G > C variant has an African origin which may be due to an ancient mutation with migration and population bottlenecks.
PubMed: 38824262
DOI: 10.1038/s41431-024-01644-5 -
Cureus Apr 2024Pes planus, commonly referred to as flatfoot, is a congenital foot deformity characterized by the descent of the medial longitudinal arch, resulting in reduced spring...
Pes planus, commonly referred to as flatfoot, is a congenital foot deformity characterized by the descent of the medial longitudinal arch, resulting in reduced spring action and increased stress on the foot during ambulation. This condition, opposite to pes cavus, typically lacks symptomatic presentation despite its structural abnormality. This case report discusses a 20-year-old female presenting to the musculoskeletal department of physiotherapy with impaired gait attributed to developmental flatfeet and an underdeveloped heel on one foot since birth. Apart from these foot deformities, no other significant abnormalities were noted upon examination. Orthotic management and ongoing monitoring have been initiated to facilitate functional independence. The prognosis for the patient's gait impairment remains optimistic with continued rehabilitation efforts aimed at dispelling misconceptions and barriers surrounding the correction of flatfoot deformities. This report underscores the importance of comprehensive rehabilitation strategies in managing flatfoot conditions to optimize patient outcomes and quality of life.
PubMed: 38817516
DOI: 10.7759/cureus.59377 -
Indian Journal of Orthopaedics Jun 2024Optimal management and surgical planning of severe bony deformities and muscle tendon unit contractures demands comprehensive evaluation of all structures including the...
BACKGROUND
Optimal management and surgical planning of severe bony deformities and muscle tendon unit contractures demands comprehensive evaluation of all structures including the dynamic muscle tendon length of all muscles around the joint during gait.
OBJECTIVES
Present study aimed to explore dynamic muscle-tendon length for all muscles around the knee joint along with pelvis, hip, and ankle joint kinematics among adolescent children with varying crouch angle.
METHODS
Muscle-tendon length of 29 adolescent children with cerebral palsy with varying crouch angles was computed using a full-body musculo-skeletal model and expressed as a percentage of muscle-tendon length during walking compared to resting condition.
RESULTS
Children with knee flexion angle greater than 25° demonstrated lower anterior pelvic tilt and 11% greater muscle-tendon length of semimembranosus and biceps femoris during stance phase of gait compared to children with knee flexion angle less than 25° and typically developing children ( < 0.01).
CONCLUSIONS
The findings of present study reported that routine bedside clinical evaluation in adolescent children with knee flexion angle greater than 25° revealed moderate shortening of hamstring muscle in supine position. Whereas instrumented objective evaluation of gait demonstrated lengthened hamstring muscle and reduced hip extension and relatively lower anterior pelvic tilt. Therefore, it may be valuable to add objective assessment of dynamic muscle-tendon length to kinematics of all lower-extremity joint motion during gait, in order to understand the muscle-joint interactions; particularly in children with severe crouch and plan specific, tailor-made surgical and non-surgical interventions.
PubMed: 38812859
DOI: 10.1007/s43465-024-01165-9 -
Arquivos de Neuro-psiquiatria May 2024Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity...
BACKGROUND
Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity of manifestations.
OBJECTIVE
To describe the diagnostic features and response to treatment in our cohort of WD patients.
METHODS
This was a retrospective analysis of 262 WD patients stratified by clinical presentation, complementary exams, genotyping, and response to treatment.
RESULTS
Symptoms occurred at an average age of 17.4 (7-49) years, and patients were followed up for an average of 9.6 (0-45) years. Patients presented mainly with hepatic (36.3%), neurologic (34.7%), and neuropsychiatric (8.3%) forms. Other presentations were hematologic, renal, or musculoskeletal, and 16.8% of the patients were asymptomatic. Kayser-Fleischer rings occurred in 78.3% of the patients, hypoceruloplasminemia in 98.3%, and elevated cupruria/24h in 73.0%, with an increase after D-penicillamine in 54.0%. Mutations of the gene were detected in 84.4% of alleles. Brain magnetic resonance imaging showed abnormalities in the basal ganglia in 77.7% of patients. D-penicillamine was the first choice in 93.6% of the 245 patients, and 21.1% of these patients were switched due to adverse effects. The second-line therapies were zinc and trientine. The therapeutic response did not differ significantly between the drugs ( = 0.2). Nine patients underwent liver transplantation and 82 died.
CONCLUSION
Wilson disease is diagnosed at a late stage, and therapeutic options are limited. In people under 40 years of age with compatible manifestations, WD could be considered earlier in the differential diagnosis. There is a need to include genotyping and therapeutic alternatives in clinical practice.
Topics: Humans; Hepatolenticular Degeneration; Retrospective Studies; Female; Male; Adolescent; Child; Adult; Copper-Transporting ATPases; Young Adult; Penicillamine; Treatment Outcome; Middle Aged; Adenosine Triphosphatases; Mutation; Genotype; Magnetic Resonance Imaging; Chelating Agents; Cation Transport Proteins; Copper
PubMed: 38811021
DOI: 10.1055/s-0044-1786855 -
JAMA Dermatology May 2024Masculinizing gender-affirming hormonal therapy is associated with the development of acne. While isotretinoin is a highly effective acne treatment, little is known...
IMPORTANCE
Masculinizing gender-affirming hormonal therapy is associated with the development of acne. While isotretinoin is a highly effective acne treatment, little is known about its effectiveness and safety among transgender and gender-diverse individuals receiving gender-affirming hormonal therapy.
OBJECTIVE
To evaluate clinical outcomes of isotretinoin among transgender and gender-diverse individuals receiving gender-affirming hormonal therapy.
DESIGN, SETTING, AND PARTICIPANTS
This multicenter retrospective case series study was conducted at 4 medical centers: Mass General Brigham, University of Pennsylvania, Emory University, and Fenway Health. It included patients aged between 12 and 49 years who were receiving masculinizing gender-affirming hormonal therapy and prescribed isotretinoin for the management of acne between August 14, 2015, and September 20, 2023.
EXPOSURE
Isotretinoin therapy for the management of acne.
MAIN OUTCOMES AND MEASURES
The percentage of patients experiencing improvement or clearance of acne, as well as rates of acne recurrence. Adverse effects and reasons for treatment discontinuation were also evaluated.
RESULTS
Among 55 included patients, the mean (SD) age was 25.4 years; 4 (7.3%) were Asian, 2 (3.6%) were Black, 4 (7.2%) were Hispanic, 1 was (1.8%) multiracial, and 36 (65.5%) were White. The median isotretinoin course duration was 6 months (IQR, 4.0-8.0), with a median cumulative dose of 132.7 mg/kg (IQR, 66.4-168.5); the cumulative dose was less than 90 mg/kg for 16 patients (29.1%) and less than 120 mg/kg for 22 patients (40.0%). Isotretinoin was associated with improvement in 48 patients (87.3%) and clearance in 26 patients (47.3%). For the 33 patients treated with a cumulative dose of 120 mg/kg or more, these rates increased to 32 patients (97.0%) and 21 patients (63.6%), respectively. Among the 20 patients who achieved acne clearance and had any subsequent health care encounters, the risk of recurrence was 20.0% (n = 4). The most frequently reported adverse effects were dryness (n = 44; 80.0%), joint pain (n = 8; 14.5%), and eczema (n = 5; 9.1%). Laboratory abnormalities were uncommon. Reasons for premature treatment discontinuation included cost, pharmacy issues, adverse effects, logistical reasons (scheduling), and wound healing concerns for gender-affirming surgery.
CONCLUSION AND RELEVANCE
In this case series study of individuals with acne who were receiving masculinizing gender-affirming hormonal therapy and underwent isotretinoin treatment, isotretinoin was often effective and well tolerated. However, premature treatment discontinuation was common and associated with poorer outcomes. Further efforts are needed to understand optimal dosing and treatment barriers to improve outcomes in transgender and gender-diverse individuals receiving masculinizing gender-affirming hormonal therapy.
PubMed: 38809569
DOI: 10.1001/jamadermatol.2024.1420