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Current Status and Role of Artificial Intelligence in Anorectal Diseases and Pelvic Floor Disorders.JSLS : Journal of the Society of... 2024Anorectal diseases and pelvic floor disorders are prevalent among the general population. Patients may present with overlapping symptoms, delaying diagnosis, and... (Review)
Review
BACKGROUND
Anorectal diseases and pelvic floor disorders are prevalent among the general population. Patients may present with overlapping symptoms, delaying diagnosis, and lowering quality of life. Treating physicians encounter numerous challenges attributed to the complex nature of pelvic anatomy, limitations of diagnostic techniques, and lack of available resources. This article is an overview of the current state of artificial intelligence (AI) in tackling the difficulties of managing benign anorectal disorders and pelvic floor disorders.
METHODS
A systematic literature review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. We searched the PubMed database to identify all potentially relevant studies published from January 2000 to August 2023. Search queries were built using the following terms: AI, machine learning, deep learning, benign anorectal disease, pelvic floor disorder, fecal incontinence, obstructive defecation, anal fistula, rectal prolapse, and anorectal manometry. Malignant anorectal articles and abstracts were excluded. Data from selected articles were analyzed.
RESULTS
139 articles were found, 15 of which met our inclusion and exclusion criteria. The most common AI module was convolutional neural network. researchers were able to develop AI modules to optimize imaging studies for pelvis, fistula, and abscess anatomy, facilitated anorectal manometry interpretation, and improved high-definition anoscope use. None of the modules were validated in an external cohort.
CONCLUSION
There is potential for AI to enhance the management of pelvic floor and benign anorectal diseases. Ongoing research necessitates the use of multidisciplinary approaches and collaboration between physicians and AI programmers to tackle pressing challenges.
Topics: Humans; Pelvic Floor Disorders; Artificial Intelligence; Rectal Diseases; Anus Diseases; Manometry; Fecal Incontinence
PubMed: 38910957
DOI: 10.4293/JSLS.2024.00007 -
Cureus May 2024Background Gender dysphoria is treated with gender affirmation surgery (GAS) for assigned male at birth (AMAB) individuals. This study aimed to evaluate the...
Background Gender dysphoria is treated with gender affirmation surgery (GAS) for assigned male at birth (AMAB) individuals. This study aimed to evaluate the postoperative anatomical changes in AMAB individuals who underwent GAS using magnetic resonance imaging (MRI) and to compare it with cis-females, thereby assessing the efficacy of the surgical technique in achieving pelvic anatomy similar to cis-females. Methodology This was a prospective observational study done in a tertiary care hospital. AMAB individuals who underwent gender affirmation genital surgery using single-stage solely penile skin inversion vaginoplasty were included after informed consent and approval by the Institutional Human Ethics Committee. Patients with complications such as deep space surgical site infection (SSI) and neo-vaginal prolapse were excluded. All the study participants were advised a vaginal self-dilatation regimen, reviewed three months after the surgery, and subjected to an MRI of the pelvis with a vaginal tutor. Parameters such as neo-vaginal depth, alpha (α) angle, rectovaginal thickness, and remnant of corpora cavernosa were measured and compared with cis-female parameters measured from images in the archives from the Department of Radiology. Result A total of 21 patients were included in the study, with a mean age of 27±4.7. Between the study group and cis-females, no significant difference was seen in vaginal depth, and cis-females had significantly higher values in other parameters. There was a significant difference between the subgroups, i.e., defaulters and non-defaulters in soft tissue parameters such as vaginal depth (p=0.001), α angle (p=0.002), and rectovaginal thickness (p=0.002) with the non-defaulter patients having higher values. Conclusion Single-stage penile skin inversion vaginoplasty is capable of producing anatomical parameters, importantly neo-vaginal depth, which is fairly comparable with cis-female, as evident in the non-defaulter subgroup patients. Proper compliance with the vaginal dilatation regimen plays a significant role in the maintenance of soft tissue pelvic anatomical parameters.
PubMed: 38910612
DOI: 10.7759/cureus.60823 -
American Journal of Ophthalmology Jun 2024Exfoliation syndrome (XFS) is a systemic connective tissue disorder with elusive pathophysiology. We hypothesize that a mouse model with elastic fiber defects caused by...
PURPOSE
Exfoliation syndrome (XFS) is a systemic connective tissue disorder with elusive pathophysiology. We hypothesize that a mouse model with elastic fiber defects caused by lack of lysyl oxidase like 1 (LOXL1 encoded by Loxl1), combined with microfibril deficiency due to Fbn1 mutation (encoding fibrillin-1, Fbn1) will display ocular and systemic phenotypes of XFS.
METHODS
Loxl1 was crossed with Fbn1 to create double mutant (dbm) mice. Intraocular pressure (IOP), visual acuity (VA), electroretinogram (ERG) and biometry were characterized in 4 genotypes (wt, Fbn1, Loxl1, dbm) at 16 weeks old. Optic nerve area was measured by ImageJ and axon counting was achieved by AxonJ. Deep whole-body phenotyping was performed in wt and dbm mice. Two-tailed Student's t-test was used for statistical analysis.
RESULTS
There was no difference in IOP between the 4 genotypes. VA was significantly reduced only in dbm mice. The majority of biometric parameters showed significant differences in all 3 mutant genotypes compared to wt, and dbm had exacerbated anomalies compared to single mutants. Dbm mice showed reduced retinal function and significantly enlarged ON area when compared with wt. Dbm mice exhibited severe systemic phenotypes related to abnormal elastic fibers, such as pelvic organ prolapse, cardiovascular and pulmonary abnormalities.
CONCLUSIONS
Ocular and systemic findings in dbm mice support functional overlap between fibrillin-1 and LOXL1, two prominent components of exfoliation material. Although no elevated IOP or reduction of axon numbers was detected in dbm mice at 16-week-old, their reduced retinal function and enlarged ON area indicate early retinal ganglion cell dysfunction. Dbm mice also provide insight on the link between XFS and systemic diseases in humans.
PubMed: 38909741
DOI: 10.1016/j.ajo.2024.06.015 -
Journal of Comparative Pathology Jun 2024Sulawesi crested macaques (Macaca nigra) (SCMs) are critically endangered and frequently suffer from chronic intestinal disease in captivity. Often, despite routine...
Sulawesi crested macaques (Macaca nigra) (SCMs) are critically endangered and frequently suffer from chronic intestinal disease in captivity. Often, despite routine diagnostic investigations and confirmation of intestinal inflammation, an aetiology cannot be identified, leading to a non-specific categorization as chronic enterocolitis rather than an aetiological diagnosis. This study evaluates the histological features of gastrointestinal tissues from 23 SCMs, comparing animals with a clinical history suggestive of chronic enterocolitis (n = 14) with those without gastrointestinal clinical signs (n = 9). Tissues were graded according to the Nancy index (NI), a scoring system used in human medicine to evaluate disease activity in ulcerative colitis, a common form of human inflammatory bowel disease (IBD). Additionally, inflammatory cells in the colonic lamina propria were visually identified by type, counted and subsequently compared between diseased and control animals. Moderate to severe lymphoplasmacytic inflammation and structural changes were most common in the colons of affected SCMs, whereas histopathological changes were absent or mild in all examined small intestine (n = 17) and stomach (n = 11) tissues. The colonic NI had a significant positive correlation with clinical disease severity and 57% (n = 8) of animals with clinical signs had a NI grade of ≥2, consistent with moderate to severe, active IBD. Half of SCMs with recurrent rectal prolapse (n = 6) had a NI grade of 0, suggesting that intestinal inflammation is not always part of this condition's pathogenesis. The numbers of colonic lymphocytes, plasma cells, neutrophils, macrophages and total leucocytes were significantly higher in diseased animals. This study validated the use of the NI in SCMs, enabling a more standardized histopathological evaluation of the colon in this species.
PubMed: 38908093
DOI: 10.1016/j.jcpa.2024.05.002 -
Journal of Cardiovascular Imaging Jun 2024Mitral annulus (MA) area is derived during transthoracic echocardiography (TTE) assuming of a circular shape using the MA diameter from the apical 4 chamber (A4c) view....
Two-dimensional transthoracic measure of mitral annulus in mitral valve prolapse and moderate to severe regurgitation: a method comparison analysis with three-dimensional transesophageal echocardiography.
BACKGROUND
Mitral annulus (MA) area is derived during transthoracic echocardiography (TTE) assuming of a circular shape using the MA diameter from the apical 4 chamber (A4c) view. Since the MA is not a circular structure, we hypothesized that an elliptical model using parasternal long-axis (PLAX) and apical 2 chamber (A2c) view measured MA diameters would have better agreement with 3-dimensional transesophageal echocardiography (3D TEE) measured MA in degenerative mitral valve disease (DMVD).
METHODS
Seventy-six patients with moderate-to-severe DMVD had 2D TTE and 3D TEE performed. MA area was measured retrospectively using semi-automatic modeling of 3D data (3D TEE) and considered as the reference method. MA diameters were measured using different 2D TTE views. MA area was calculated using assumptions of a circular or an elliptical shape. 2D TTE derived and 3D TEE. MA areas were compared using linear regression and Bland-Altman analysis.
RESULTS
The median MA area measured at 3D TEE was 1,386 (1,293-1,673) mm. With 2D TTE, the circular model using A4c view diameter resulted in a small systematic underestimation of MA area (6%), while the elliptical model using PLAX and A2c diameters resulted in 25% systematic underestimation. The standard deviations of the distributions of inter-method differences were wide for all 2D TTE methods (265-289 mm) when compared to 3D TEE, indicating imprecision.
CONCLUSIONS
When compared with 3D TEE modeling of the MA as the reference, the assumption of a circular shape using A4c TTE view diameter was the method with the least systematic error to assess MA area in DMVD and moderate to severe regurgitation.
PubMed: 38907302
DOI: 10.1186/s44348-024-00001-w -
BMC Neurology Jun 2024Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes.... (Review)
Review
BACKGROUND
Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7 CMS requires different treatment than other CMS types. Regarding DOK7's special considerations and challenges ahead of neurologists, we describe seven DOK7 patients and evaluate their response to treatment.
METHODS
The authors visited these patients in the neuromuscular clinics of Tehran and Kerman Universities of Medical Sciences Hospitals. They diagnosed these patients based on clinical findings and neurophysiological studies, which Whole Exome Sequencing confirmed. For each patient, we tried unique medications and recorded the clinical response.
RESULTS
The symptoms started from birth to as late as the age of 33, with the mean age of onset being 12.5. Common symptoms were: Limb-girdle weakness in 6, fluctuating symptoms in 5, ptosis in 4, bifacial weakness in 3, reduced extraocular movement in 3, bulbar symptoms in 2 and dyspnea in 2 3-Hz RNS was decremental in 5 out of 6 patients. Salbutamol was the most effective. c.1124_1127dupTGCC is the most common variant; three patients had this variant.
CONCLUSION
We strongly recommend that neurologists consider CMS in patients with these symptoms and a similar familial history. We recommend prescribing salbutamol as the first-choice treatment option for DOK7 patients.
Topics: Humans; Myasthenic Syndromes, Congenital; Male; Female; Muscle Proteins; Adult; Young Adult; Adolescent; Child; Mutation
PubMed: 38907197
DOI: 10.1186/s12883-024-03713-0 -
Sexual Medicine Jun 2024Pelvic floor muscle training can effectively improve pelvic floor muscle strength and activities; however, its impact on sexual function in women with stress urinary...
BACKGROUND
Pelvic floor muscle training can effectively improve pelvic floor muscle strength and activities; however, its impact on sexual function in women with stress urinary incontinence remains unclear.
AIM
The study sought to investigate the impact of pelvic floor muscle training on pelvic floor muscle and sexual function in women with stress urinary incontinence.
METHODS
This was a retrospective observational study involving women who visited a urogynecologic clinic at a tertiary medical center. Patients with stress urinary incontinence without pelvic organ prolapse underwent pelvic floor muscle training programs that included biofeedback and intravaginal electrostimulation. Other evaluations included pelvic floor manometry, electromyography, and quality-of-life questionnaires, including the short forms of the Pelvic Organ Prolapse/Urinary Incontinence Sexual Questionnaire, Urogenital Distress Inventory, and Incontinence Impact Questionnaire.
OUTCOMES
Clinical characteristics, vaginal squeezing and resting pressure, maximal pelvic floor contraction, duration of sustained contraction, quality-of-life scores, and sexual function were compared between baseline and after the pelvic floor muscle training programs.
RESULTS
There were 61 women included in the study. The mean number of treatment sessions was 12.9 ± 6.3, and the mean treatment duration was 66.7 ± 32.1 days. The short forms of the Urogenital Distress Inventory (7.7 ± 3.8 vs 1.8 ± 2.1; < .001) and Incontinence Impact Questionnaire (5.9 ± 4.3 vs 1.8 ± 2.0; < .001) scores significantly improved after the pelvic floor muscle training program. In addition, all pelvic floor muscle activities significantly improved, including maximal vaginal squeezing pressure (58.7 ± 20.1 cmHO vs 66.0 ± 24.7 cmHO; = .022), difference in vaginal resting and maximal squeezing pressure (25.3 ± 14.6 cmHO vs 35.5 ± 16.0 cmHO; < .001), maximal pelvic muscle voluntary contraction (24.9 ± 13.8 μV vs 44.5 ± 18.9 μV; < .001), and duration of contraction (6.2 ± 5.7 s vs 24.9 ± 14.6 s; < .001). Nevertheless, the short form of the Pelvic Organ Prolapse/Urinary Incontinence Sexual Questionnaire score demonstrated no significant improvement (28.8 ± 9.7 vs 29.2 ± 12.3; = .752).
CLINICAL IMPLICATIONS
Pelvic floor muscle training programs may not improve sexual function in women with stress urinary incontinence.
STRENGTHS AND LIMITATIONS
The strength of this study is that we evaluated sexual function with validated questionnaires. The small sample size and lack of long-term data are the major limitations.
CONCLUSION
Pelvic floor muscle training can improve pelvic floor muscle activities and effectively treat stress urinary incontinence; however, it may not improve sexual function.
PubMed: 38903774
DOI: 10.1093/sexmed/qfae040 -
Regenerative Biomaterials 2024Pelvic organ prolapse (POP) afflicts millions of women globally. In POP, the weakened support of the pelvic floor results in the descent of pelvic organs into the...
Promoting cell proliferation and collagen production with ascorbic acid 2-phosphate-releasing poly(l-lactide-co-ε-caprolactone) membranes for treating pelvic organ prolapse.
Pelvic organ prolapse (POP) afflicts millions of women globally. In POP, the weakened support of the pelvic floor results in the descent of pelvic organs into the vagina, causing a feeling of bulging, problems in urination, defaecation and/or sexual function. However, the existing surgical repair methods for relapsed POP remain insufficient, highlighting the urgent need for more effective alternatives. Collagen is an essential component in pelvic floor tissues, providing structural support, and its production is controlled by ascorbic acid. Therefore, we investigated novel ascorbic acid 2-phosphate (A2P)-releasing poly(l-lactide-co-ε-caprolactone) (PLCL) membranes to promote cell proliferation and extracellular matrix protein production to strengthen the natural support of the pelvic fascia for POP applications. We analysed the mechanical properties and the impact of PLCL on cellular responses through cell culture analysis using human vaginal fibroblasts (hVFs) and human adipose-derived stem/stromal cells (hASCs) compared to PLCL. In addition, the A2P release from PLCL membranes was assessed . The PLCL demonstrated slightly lower tensile strength (2.2 ± 0.4 MPa) compared to PLCL (3.7 ± 0.6 MPa) for the first 4 weeks . The A2P was most rapidly released during the first 48 h of incubation. Our findings demonstrated significantly increased proliferation and collagen production of both hVFs and hASCs on A2P-releasing PLCL compared to PLCL. In addition, extracellular collagen Type I fibres were detected in hVFs, suggesting enhanced collagen maturation on PLCL. Moreover, increased extracellular matrix protein expression was detected on PLCL in both hVFs and hASCs compared to plain PLCL. In conclusion, these findings highlight the potential of PLCL as a promising candidate for promoting tissue regeneration in applications aimed for POP tissue engineering applications.
PubMed: 38903561
DOI: 10.1093/rb/rbae060 -
Cureus May 2024Cavernous sinus syndrome (CSS) is a complex, multifactorial condition that presents with a myriad of signs and symptoms including ptosis, double vision, and headache. We...
Cavernous sinus syndrome (CSS) is a complex, multifactorial condition that presents with a myriad of signs and symptoms including ptosis, double vision, and headache. We present the case of a 65-year-old woman with a chief concern of left-eye pain, including polio syndrome and hip replacement surgery. Unlike typical CSS cases often linked to tumors, this patient's condition involved a carotid-cavernous fistula (CCF), multiple internal carotid artery aneurysms, and a pericallosal aneurysm, without any associated tumor. She presented with severe left eye pain, ptosis, double vision, vomiting, headache, and other neurological symptoms since she woke up. Her treatment at a tertiary care center included diagnostic imaging, a cerebral angiogram, and embolization procedures, and she was discharged in stable condition. This case adds significant value to the medical literature by documenting the successful management of CSS with multiple aneurysms and a CCF, highlighting the importance of personalized treatment strategies and the effectiveness of modern embolization techniques in complex neurological conditions.
PubMed: 38899274
DOI: 10.7759/cureus.60673 -
Journal of Cellular and Molecular... Jun 2024Exosomes derived from bone marrow-derived mesenchymal stem cells (BMSCs) can alleviate the symptoms of pelvic floor dysfunction (PFD) in rats. However, the potential...
Exosomes derived from bone marrow-derived mesenchymal stem cells (BMSCs) can alleviate the symptoms of pelvic floor dysfunction (PFD) in rats. However, the potential therapeutical effects of exosomes derived from BMSCs treated with tumour necrosis factor (TNF)-α on the symptoms of PFD in rats are unknown. Exosomes extracted from BMSCs treated with or without TNF-α were applied to treat PFD rats. Our findings revealed a significant elevation in interleukin (IL)-6 and TNF-α, and matrix metalloproteinase-2 (MMP2) levels in the vaginal wall tissues of patients with pelvic organ prolapse (POP) compared with the control group. Daily administration of exosomes derived from BMSCs, treated either with or without TNF-α (referred to as Exo and TNF-Exo), resulted in increased void volume and bladder void pressure, along with reduced peak bladder pressure and leak point pressure in PFD rats. Notably, TNF-Exo treatment demonstrated superior efficacy in restoring void volume, bladder void pressure and the mentioned parameters compared with Exo treatment. Importantly, TNF-Exo exhibited greater potency than Exo in restoring the levels of multiple proteins (Elastin, Collagen I, Collagen III, IL-6, TNF-α and MMP2) in the anterior vaginal walls of PFD rats. The application of exosomes derived from TNF-α-treated BMSCs holds promise as a novel therapeutic approach for treating PFD.
Topics: Animals; Exosomes; Mesenchymal Stem Cells; Female; Tumor Necrosis Factor-alpha; Rats; Humans; Pelvic Organ Prolapse; Matrix Metalloproteinase 2; Rats, Sprague-Dawley; Interleukin-6; Pelvic Floor; Disease Models, Animal; Bone Marrow Cells; Vagina; Mesenchymal Stem Cell Transplantation; Pelvic Floor Disorders; Middle Aged
PubMed: 38898783
DOI: 10.1111/jcmm.18451