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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 -
Journal of Orthopaedic Surgery and... May 2024Humeral shaft fractures, constituting 3-5% of musculoskeletal injuries, are commonly managed conservatively using functional braces. However, this approach may not be...
BACKGROUND
Humeral shaft fractures, constituting 3-5% of musculoskeletal injuries, are commonly managed conservatively using functional braces. However, this approach may not be feasible in resource-limited settings. This study aimed to evaluate the functional outcomes of nonoperative treatment for humeral shaft fractures in adults utilizing a U-shaped slab.
METHODS
This prospective study was conducted from August 2021 to August 2022 involving 16-year-old and older individuals who received nonsurgical treatment for humeral shaft fractures at public tertiary hospitals in Rwanda. The assessment focused on various functional outcomes, including alignment, union rate, range of motion, return to activities of daily living, and DASH score.
RESULTS
The study included 73 participants, predominantly males (73.9%), with a median age of 33 years. The union rate was high at 89.04%, and 10.96% experienced delayed union. Radial nerve palsy occurred in 4.11% of patients, but all the patients fully recovered within three months. Despite angular deformities during healing in the majority of participants, these deformities did not significantly impact functional outcomes. According to the international classification of disabilities, 77% of participants achieved a good functional grade.
CONCLUSION
The conservative U-shaped slab method was effective at managing humeral shaft fractures. However, optimal results necessitate careful participant selection and comprehensive rehabilitation education. Implementing these measures can improve the overall success of nonoperative management.
Topics: Humans; Humeral Fractures; Female; Male; Prospective Studies; Adult; Treatment Outcome; Middle Aged; Young Adult; Adolescent; Conservative Treatment; Rwanda; Cohort Studies; Range of Motion, Articular; Activities of Daily Living; Recovery of Function; Fracture Healing; Health Resources; Resource-Limited Settings
PubMed: 38807217
DOI: 10.1186/s13018-024-04794-w -
Relative Energy Deficiency in Sport (RED-S) and Knee Injuries: Current Concepts for Female Athletes.Journal of ISAKOS : Joint Disorders &... May 2024In athletes, a mismatch between caloric intake and energy expended in exercise can result in Low Energy Availability (LEA). LEA can lead to Relative Energy Deficiency in...
In athletes, a mismatch between caloric intake and energy expended in exercise can result in Low Energy Availability (LEA). LEA can lead to Relative Energy Deficiency in Sport (RED-S), where the athlete suffers from physiological derangements and decreased sport performance. The prevalence of RED-S is higher in females than males. RED-S more comprehensively describes the syndrome originally known as "Female Athlete Triad" (FAT). FAT encompasses the triad of LEA (with or without disordered eating), menstrual dysfunction and low bone mineral density. RED-S includes other physiological derangements such as poor cardiovascular health, abnormalities of metabolic rate, immunity, and protein synthesis. Females are already at a higher risk of knee injuries, which has been attributed to a multitude of factors such as hormonal influences, differences in musculoskeletal anatomy and neuromuscular control compared to males. The literature demonstrates an even higher risk of knee injuries in female athletes with symptoms of RED-S. We propose the various factors that influence this risk. A reduction in anabolic hormones can affect muscle development and tendon repair. A relationship between poor neuromuscular control and knee injury has been established, and this can be further worsened in patients with menstrual dysfunction. Chronic deficiency in nutrients such as collagen and vitamin D can result in poorer recovery from microtrauma in tendon and ligaments. All these factors may contribute to increasing the risk of knee injuries, which may include anterior cruciate ligament tears, patella tendinopathy and patellofemoral pain syndrome. This review aims to educate sports clinicians to have a high index of suspicion when treating knee injuries in females; to screen and then manage for RED-S if present, for holistic patient care.
PubMed: 38795863
DOI: 10.1016/j.jisako.2024.05.012 -
Medicina (Kaunas, Lithuania) Apr 2024: The pancreas, ensconced within the abdominal cavity, requires a plethora of sophisticated imaging modalities for its comprehensive evaluation, with ultrasonography... (Review)
Review
: The pancreas, ensconced within the abdominal cavity, requires a plethora of sophisticated imaging modalities for its comprehensive evaluation, with ultrasonography serving as a primary investigative technique. A myriad of pancreatic pathologies, encompassing pancreatic neoplasia and a spectrum of inflammatory diseases, are detectable through these imaging strategies. Nevertheless, the intricate anatomical confluence and the pancreas's deep-seated topography render the visualization and accurate diagnosis of its pathologies a formidable endeavor. The objective of our paper is to review the best diagnostic imagistic tools for the pancreas. : we have gathered several articles using Prisma guidelines to determine the best imagistic methods. The imperative of pancreatic scanning transcends its diagnostic utility, proving to be a pivotal element in a multitude of clinical specialties, notably surgical oncology. Within this domain, multidetector computed tomography (MDCT) of the pancreas holds the distinction of being the paramount imaging modality, endorsed for its unrivaled capacity to delineate the staging and progression of pancreatic carcinoma. In synergy with MDCT, there has been a notable advent of avant-garde imaging techniques in recent years. These advanced methodologies, including ultrasonography, endoscopic ultrasonography, contrast-enhanced ultrasonography, and magnetic resonance imaging (MRI) conjoined with magnetic resonance cholangiopancreatography (MRCP), have broadened the horizon of tumor characterization, offering unparalleled depth and precision in oncological assessment. Other emerging diagnostic techniques, such as elastography, also hold a lot of potential and promise for the future of pancreatic imaging. Fine needle aspiration (FNA) is a quick, minimally invasive procedure to evaluate lumps using a thin needle to extract tissue for analysis. It is less invasive than surgical biopsies and usually performed as an outpatient with quick recovery. Its accuracy depends on sample quality, and the risks include minimal bleeding or discomfort. Results, guiding further treatment, are typically available within a week. Elastography is a non-invasive medical imaging technique that maps the elastic properties and stiffness of soft tissue. This method, often used in conjunction with ultrasound or MRI, helps differentiate between hard and soft areas in tissue, providing valuable diagnostic information. It is particularly useful for assessing liver fibrosis, thyroid nodules, breast lumps, and musculoskeletal conditions. The technique is painless and involves applying gentle pressure to the area being examined. The resulting images show tissue stiffness, indicating potential abnormalities. Elastography is advantageous for its ability to detect diseases in early stages and monitor treatment effectiveness. The procedure is quick, safe, and requires no special preparation, with results typically available immediately. : The assembled and gathered data shows the efficacy of various techniques in discerning the nature and extent of neoplastic lesions within the pancreas. : The most common imaging modalities currently used in diagnosing pancreatic neoplasms are multidetector computed tomography (MDCT), endoscopic ultrasound (EUS), and magnetic resonance imaging (MRI), alongside new technologies, such as elastography.
Topics: Humans; Pancreatic Neoplasms; Ultrasonography; Magnetic Resonance Imaging; Multidetector Computed Tomography; Pancreas
PubMed: 38792878
DOI: 10.3390/medicina60050695