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Physiological Reports Dec 2023Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb-girdle muscular dystrophy (LGMD) is a type of MD that mainly...
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb-girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles. LGMD is classified into autosomal dominant (LGMD-D) and autosomal recessive (LGMD-R) inheritance patterns. Mutations in the Dysferlin gene (DYSF) are common causes of LGMD-R. However, genetic screening of DYSF mutations is rare in Taiwan. Herein, we identified a novel c.2867_2871del ACCAG deletion and a previously reported c.937+1G>A mutation in DYSF from a Taiwanese family with LGMD. The primary symptoms of both siblings were difficulty climbing stairs, walking on the toes, and gradually worsening weakness in the proximal muscles and increased creatine kinase level. Through pedigree analysis and sequencing, two siblings from this family were found to have compound heterozygous DYSF mutations (c. 937+1G>A and c. 2867_2871del ACCAG) within the separated alleles. These mutations induced early stop codons; if translated, truncated DYSF proteins will be expressed. Or, the mRNA products of these two mutations will merit the nonsense-mediated decay, might result in no dysferlin protein expressed. To our knowledge, this is the first report of a novel c.2867_2871del ACCAG deletion in DYSF. Further research is required to examine the effects of the novel DYSF mutation in Taiwanese patients with LGMD.
Topics: Humans; Dysferlin; Muscular Dystrophies, Limb-Girdle; Mutation; Muscular Atrophy; Inheritance Patterns
PubMed: 38110300
DOI: 10.14814/phy2.15887 -
Physical Therapy Apr 2024The objective of this study was to evaluate whether early postpartum exercise is associated with changes in pelvic symptom severity, pelvic floor muscle strength, and...
OBJECTIVE
The objective of this study was to evaluate whether early postpartum exercise is associated with changes in pelvic symptom severity, pelvic floor muscle strength, and diastasis recti abdominis (DRA) from 3 to 12 months postpartum.
METHODS
In this prospective cohort study, 504 participants with and without pelvic symptoms (pelvic girdle pain, stress urinary incontinence, vaginal heaviness) were followed. At 3, 6, 9, and 12 months postpartum, we assessed pelvic symptoms, exercise behavior (by questionnaires), pelvic floor muscle strength (by vaginal palpation), and DRA (by caliper measurement). Based on the 3-months questionnaire, participants were categorized as nonexercisers (n = 105), minimal low-impact exercisers (n = 249), regular low-impact exercisers (n = 117), and high-impact exercisers (n = 32). Between-group differences and within-group changes from 3 to 12 months were calculated using Chi-square tests, Kruskal-Wallis tests, and Friedman analysis of variance.
RESULTS
At 3 months, no differences in symptom prevalence were seen between the groups. Nonexercisers reported higher pelvic girdle pain severity and had weaker pelvic floor muscles. The within-group analysis showed that pelvic girdle pain severity did not change in nonexercisers or high-impact exercisers, but decreased in minimal and regular low-impact exercisers. Stress urinary incontinence increased in nonexercisers from 3 to 12 months, while it remained unchanged in regular low-impact and high-impact exercisers, and decreased in minimal low-impact exercisers. Across all groups, vaginal heaviness and DRA decreased, and pelvic floor strength increased from 3 to 12 months.
CONCLUSION
The study indicates that early low-impact exercising is associated with reduced pelvic girdle pain severity during the first postpartum year. Minimal low-impact exercisers also showed a slight reduction in stress urinary incontinence. Conversely, nonexercisers reported an increase in stress urinary incontinence between 3 and 12 months postpartum.
IMPACT
Physical therapists should encourage women to start with low-impact exercise early after pregnancy.
LAY SUMMARY
This study highlights the positive effects of starting gentle, low-impact exercise early after childbirth to reduce pelvic girdle pain and urinary incontinence.
Topics: Female; Humans; Pregnancy; Diastasis, Muscle; Muscle Strength; Pelvic Floor; Pelvic Girdle Pain; Prospective Studies; Rectus Abdominis; Urinary Incontinence, Stress; Exercise; Longitudinal Studies
PubMed: 38109793
DOI: 10.1093/ptj/pzad171 -
Cureus Nov 2023Pelvic girdle pain (PGP) during pregnancy is a major source of stress for mothers. This review summarizes studies on the effectiveness of functional stability exercises... (Review)
Review
Pelvic girdle pain (PGP) during pregnancy is a major source of stress for mothers. This review summarizes studies on the effectiveness of functional stability exercises (FSEs) in preventing PGP during pregnancy. FSE is a rising area of study in maternal health, focusing on core muscle groups and addressing the biomechanical changes during pregnancy. Although data shows that FSE may relieve PGP and improve the quality of life in pregnant women, the research landscape is defined by limitations and differences in intervention parameters among studies, resulting in contradictory conclusions. As a result, the efficacy of FSE in pregnant women with PGP remains inconclusive. This review can help comprise the existing research on FSE alleviating PGP in pregnancy to provide full knowledge on the topic, analyze long-term effects, and develop practice guidelines. While FSE shows promise, treating the multidimensional nature of PGP in pregnancy requires a comprehensive approach to therapy that incorporates several therapeutic modalities.
PubMed: 38098896
DOI: 10.7759/cureus.48769 -
Plastic and Reconstructive Surgery.... Dec 2023Lymphedema of the lower extremities can be further complicated by lymphedema of the lower abdomen and genitalia. This study aimed to clarify the effect of lower...
Lymphedema of the lower extremities can be further complicated by lymphedema of the lower abdomen and genitalia. This study aimed to clarify the effect of lower abdominal lymphaticovenous anastomosis (LVA) on lower abdominal lymphedema. The patient was a 61-year-old woman. At the age of 49 years, she underwent treatment for ovarian cancer, including pelvic lymphadenectomy, and she developed lymphedema in the lower abdomen and bilateral thigh 2 years later. During lymphoscintigraphy, isotopes injected into the dorsum of the bilateral feet accumulated in the corresponding areas, indicating that lymph flowed into these areas from the legs. Compression therapy was performed with a girdle; however, its effect was limited. According to the lymphoscintigraphic findings, we performed LVA in the bilateral thighs (two anastomoses each), and the edema symptoms slightly improved postoperatively. However, as edema was still present and the patient sought further relief, we evaluated the lymphatic vessels in the lower abdomen using lymphatic ultrasound and found dilated lymphatic vessels. We performed another LVA in the lower abdomen 1 year after the first LVA (two anastomoses in the right abdomen, one anastomosis in the left abdomen, and an additional anastomosis in the bilateral thighs). The patient's subjective symptoms improved, and ultrasonography showed a reduction in abdominal lymphedema at 7 months follow-up. For lymphedema in the lower abdomen and genital area that does not improve with compression therapy, appropriate examination to evaluate lymphatic flow and lymphatic degeneration is necessary, and LVA in the lower abdomen may be effective.
PubMed: 38093725
DOI: 10.1097/GOX.0000000000005443 -
Women's Health (London, England) 2023Pregnancy-related lumbopelvic pain is a frequently reported musculoskeletal disorder, but few studies have compared data between countries.
BACKGROUND
Pregnancy-related lumbopelvic pain is a frequently reported musculoskeletal disorder, but few studies have compared data between countries.
OBJECTIVES
Examine prevalence, severity, and sick leave and explore potential risk factors associated with pregnancy-related lumbopelvic pain in Italian women and compare the results to a similar study in Norway, utilizing the same questionnaire.
DESIGN
Cross-sectional.
METHODS
Italian ( = 481) and Norwegian women ( = 435) were allocated from two public hospitals in Rome (Fatebenefratelli San Giovanni Calibita-Isola Tiberina) and Oslo (Oslo University Hospital), as well as four antenatal clinics in Modena (Italy). The questionnaire was completed between gestation weeks 32 and 36, addressing women's experiences of pregnancy-related lumbopelvic pain and sick leave in current week, and retrospectively for prepregnancy, first and second trimesters.
RESULTS
In Italy and Norway, 39% and 57% of pregnant women reported pregnancy-related lumbopelvic pain, respectively, with 11% and 25% experiencing severe pregnancy-related lumbopelvic pain. Pregnancy-related lumbopelvic pain was associated with sick leave in Norway ( < 0.01), but not in Italy ( = 0.66) at late gestation. In both countries, women with pregnancy-related lumbopelvic pain versus those with no pregnancy-related lumbopelvic pain were more likely to be multiparous (Italy: 40% versus 31%, = 0.06 and Norway: 53% versus 38%, < 0.01), and have gestational weight gain above guidelines (Italy: 21% versus 13%, = 0.02% and Norway: 27% versus 14%, < 0.01) and previous experience of pregnancy-related lumbopelvic pain (Italy: 15% versus 2%, < 0.01 and Norway: 31% versus 4%, < 0.01). Maternal exercise (⩾2 times weekly) was associated with less pregnancy-related lumbopelvic pain (Italy: odds ratio = 0.33, 95% confidence interval = 0.11-1.0, = 0.05 and Norway: odds ratio = 0.55, 95% confidence interval = 0.29-1.0, = 0.06).
CONCLUSION
We observed high rates of pregnancy-related lumbopelvic pain in Italy and Norway, with Norwegian women reporting the highest prevalence and severity level. While both countries had similar rates of sick leave in late gestation, an association between pregnancy-related lumbopelvic pain and sick leave was observed among Norwegian women only. Health care providers should be proactive in addressing pregnancy-related lumbopelvic pain through open communication and seeking input from pregnant individuals. However, it is essential to acknowledge that the current evidence on effective treatments remains limited and inconclusive, highlighting the need for further research in this field.
Topics: Female; Pregnancy; Humans; Retrospective Studies; Sick Leave; Cross-Sectional Studies; Norway; Low Back Pain; Italy; Parity; Pregnancy Complications
PubMed: 38078361
DOI: 10.1177/17455057231218197 -
Journal of Clinical Medicine Nov 2023The genitourinary system is not as commonly affected as many other organ systems in severely injured patients. Although a delayed and missed diagnosis of genitourinary...
BACKGROUND
The genitourinary system is not as commonly affected as many other organ systems in severely injured patients. Although a delayed and missed diagnosis of genitourinary injuries (GUIs) can severely compromise long-term outcomes, these injuries are frequently overlooked. Therefore, we present a scoring system designed to assist emergency physicians in diagnosing GUIs in severely injured patients.
METHODS
The data were obtained from the TraumaRegister DGU from the years 2015-2021. All severely injured patients (ISS ≥ 16) ≥16 years of age and treated in Germany, Austria, or Switzerland were included in this study. We excluded patients who were transferred out early (48 h), and all patients with isolated traumatic brain injury. After the univariate analysis of the relevant predictive factors, we developed a scoring system using a binary logistic regression model.
RESULTS
A total of 70,467 patients were included in this study, of which 4760 (6.8%) sustained a GUI. Male patients (OR: 1.31, 95% CI [1.22, 1.41]) injured in motorcycle accidents (OR: 1.70, 95% CI [1.55, 1.87]), who were under 60 years of age (OR: 1.59, 95% CI [1.49, 1.71]) and had sustained injuries in multiple body regions (OR: 6.63, 95% CI [5.88, 7.47]), and suffered severe pelvic girdle injuries (OR: 2.58, 95% CI [2.29, 2.91]) had the highest odds of sustaining a GUI. With these predictive factors combined, a novel scoring system, the GUIPP score, was developed. It showed good validity, with an AUC of 0.722 (95% CI [0.71; 0.73]).
CONCLUSION
Predicting GUI in severely injured patients remains a challenge for treating physicians, but is extremely important to prevent poor outcomes for affected patients. The GUIPP score can be utilized to initiate appropriate diagnostic steps early on in order to reduce the delayed and missed diagnosis of GUI, with scores ≥ 9 points making GUIs very likely.
PubMed: 38068393
DOI: 10.3390/jcm12237341 -
Patient Safety in Surgery Dec 2023The disruption of the pubic symphysis during the peripartum period is a rare injury to the pelvic ring. In most cases, conservative treatment is successful. Nonetheless,...
BACKGROUND
The disruption of the pubic symphysis during the peripartum period is a rare injury to the pelvic ring. In most cases, conservative treatment is successful. Nonetheless, there are cases where surgical intervention is necessary. We analyzed five surgical cases treated in our department and performed a literature review.
CASE PRESENTATIONS
Five women, ranging in age from 25 to 38, who experienced peripartum symphysis rupture were primarily treated with a conservative approach. Patients who did not show improvement and met certain criteria, such as experiencing pain starting from childbirth, having a separation in the pubic bone of more than 10 mm, and/or having a vertical instability greater than 5 mm, were recommended to undergo surgery. The average length of time between childbirth and surgery was 5.6 months, ranging from 1 to 14 months. One patient was treated with an external fixator, another patient received a combination of an external fixator and an anterior plate, and three patients were treated with anterior plates. In four cases, we observed a failure in fixation and a partial or complete loss of reduction. The plate and screws were removed in one case, and in three cases, revision surgery was performed. One case involved using a larger plate, while the other used 90-90 plating, known as "box plate fixation." The mean follow-up was 7.4 years. Two cases had good results, and two had excellent results on the Lindahl scale.
CONCLUSION
For patients with peripartum pubic symphyseal dislocation, our case series and literature review demonstrated that early reduction and fixation correlate with improved clinical outcomes and lower implant failure. For patients with subacute/chronic injuries, there was a higher incidence of implant failure. Orthogonal plate fixation and/or pubic symphysiodesis was associated with improved clinical outcomes.
PubMed: 38062457
DOI: 10.1186/s13037-023-00381-w -
International Journal of Therapeutic... Dec 2023Pelvic girdle pain is a common problem experienced during pregnancy, with high incidence rates and significant impacts on quality of life. Remedial massage might be able...
INTRODUCTION
Pelvic girdle pain is a common problem experienced during pregnancy, with high incidence rates and significant impacts on quality of life. Remedial massage might be able to provide some reduction in pain.
AIM
This study aimed to investigate the feasibility of conducting a randomised controlled trial on the effectiveness of massage in treating pregnant women with pelvic girdle pain to determine its merits and viability for use in a large-scale study.
METHODS
A two-arm pilot randomised feasibility crossover-controlled trial. The two treatment phases were a) remedial pregnancy massage, and b) exercise.
RESULTS
Twenty-four women started the study and 19 women completed the study. Data were collected on recruitment and retention rates, crossover study design methodology, participant sub-characteristics, and acceptability of the outcome measures (pain, quality of life, and disability).
CONCLUSION
Recruiting participants for a pregnancy-related pelvic girdle pain study is indeed feasible; however, a crossover study design is not appropriate and future studies should consider a mixed methods study design.
PubMed: 38046054
DOI: 10.3822/ijtmb.v16i4.877 -
Midwifery Feb 2024Pregnancy-related pelvic girdle pain (PPGP) is common and considered a multifactorial condition with biomechanical and psychosocial contributions. The patient's...
Exploring health and illness perceptions to identify the perceived cause of pregnancy-related pelvic girdle pain. A mixed-methods study among primiparous women in The Netherlands.
BACKGROUND
Pregnancy-related pelvic girdle pain (PPGP) is common and considered a multifactorial condition with biomechanical and psychosocial contributions. The patient's perceived cause is an important aspect of illness perceptions, and a strong predictor of self-management and healthcare utilization. It is unknown what causal beliefs primiparae hold regarding PPGP.
OBJECTIVE
To explore and describe health and illness perceptions among primiparae towards PPGP and its cause.
DESIGN
Exploratory, convergent parallel mixed-methods.
SETTING
At the participants' homes.
PARTICIPANTS
Sixteen primiparae with and without PPGP.
FINDINGS
Primiparae with and without PPGP held comparable causal beliefs about PPGP. PPGP was described as the result of hormonal softening and loosening of the pelvis, and failure of the muscular system to compensate for that. Women who experienced similar physical symptoms attributed them differently, leading to different coping strategies. Interestingly, maternal healthcare providers reinforced the unidimensional- and predominantly biomechanical view when women sought healthcare.
CONCLUSION
The causal mechanism of PPGP held by the women was not determined by their lived experience. It was primarily based on the concept of inevitable hormonal softening of the pelvis. This biomechanical belief is based on theories that are not in line with current knowledge of PPGP and contemporary pain science, yet they were reinforced by maternity healthcare providers.
IMPLICATIONS FOR PRACTICE
Healthcare seeking behavior is influenced by illness beliefs. Maternity healthcare providers may play a key role in providing reassurance and addressing the multifactorial nature of PPGP when providing care and support to pregnant women.
Topics: Pregnancy; Female; Humans; Pelvic Girdle Pain; Netherlands; Pregnant Women; Parity; Pregnancy Complications
PubMed: 38043479
DOI: 10.1016/j.midw.2023.103892 -
Journal of Anatomy Apr 2024Piatnitzkysauridae were Jurassic theropods that represented the earliest diverging branch of Megalosauroidea, being one of the earliest lineages to have evolved moderate...
Piatnitzkysauridae were Jurassic theropods that represented the earliest diverging branch of Megalosauroidea, being one of the earliest lineages to have evolved moderate body size. This clade's typical body size and some unusual anatomical features raise questions about locomotor function and specializations to aid in body support; and other palaeobiological issues. Biomechanical models and simulations can illuminate how extinct animals may have moved, but require anatomical data as inputs. With a phylogenetic context, osteological evidence, and neontological data on anatomy, it is possible to infer the musculature of extinct taxa. Here, we reconstructed the hindlimb musculature of Piatnitzkysauridae (Condorraptor, Marshosaurus, and Piatnitzkysaurus). We chose this clade for future usage in biomechanics, for comparisons with myological reconstructions of other theropods, and for the resulting evolutionary implications of our reconstructions; differential preservation affects these inferences, so we discuss these issues as well. We considered 32 muscles in total: for Piatnitzkysaurus, the attachments of 29 muscles could be inferred based on the osteological correlates; meanwhile, in Condorraptor and Marshosaurus, we respectively inferred 21 and 12 muscles. We found great anatomical similarity within Piatnitzkysauridae, but differences such as the origin of M. ambiens and size of M. caudofemoralis brevis are present. Similarities were evident with Aves, such as the division of the M. iliofemoralis externus and M. iliotrochantericus caudalis and a broad depression for the M. gastrocnemius pars medialis origin on the cnemial crest. Nevertheless, we infer plesiomorphic features such as the origins of M. puboischiofemoralis internus 1 around the "cuppedicus" fossa and M. ischiotrochantericus medially on the ischium. As the first attempt to reconstruct muscles in early tetanurans, our study allows a more complete understanding of myological evolution in theropod pelvic appendages.
Topics: Animals; Phylogeny; Biological Evolution; Lower Extremity; Hindlimb; Dinosaurs; Muscle, Skeletal
PubMed: 38037880
DOI: 10.1111/joa.13983