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Journal of Clinical Medicine Jun 2024Osteogenesis Imperfecta (OI) is a genetic disorder caused by mutations in genes responsible for collagen synthesis or polypeptides involved in the formation of collagen... (Review)
Review
Osteogenesis Imperfecta (OI) is a genetic disorder caused by mutations in genes responsible for collagen synthesis or polypeptides involved in the formation of collagen fibers. Its predominant skeletal complication is scoliosis, impacting 25 to 80% of OI patients. Vertebral deformities of the scoliotic curves in OI include a variety of malformations such as codfish, wedged-shaped vertebrae or platyspondyly, craniocervical junction abnormalities, and lumbosacral spondylolysis and spondylolisthesis. Although the precise pathophysiology of these spinal deformities remains unclear, anomalies in bone metabolism have been implicated in the progression of scoliotic curves. Bone Mineral Density (BMD) measurements have demonstrated a significant reduction in the Z-score, indicating osteoporosis and a correlation with the advancement of scoliosis. Factors such as increased mechanical strains, joint hypermobility, lower leg length discrepancy, pelvic obliquity, spinal ligament hypermobility, or vertebrae microfractures may also contribute to the severity of scoliosis. Histological vertebral analysis has confirmed that changes in trabecular microarchitecture, associated with inadequate bone turnover, indicate generalized bone metabolic defects in OI. At the molecular level, the upregulation of Transforming Growth factor-β (TGFβ) signaling in OI can lead to disturbed bone turnover and changes in muscle mass and strength. Understanding the relationship between spinal clinical features and molecular pathways could unveil TGFβ -related molecular targets, paving the way for novel therapeutic approaches in OI.
PubMed: 38930011
DOI: 10.3390/jcm13123484 -
Journal of Personalized Medicine Jun 2024This prospective study investigated the feasibility of performing laparoscopic pelvic surgery under spinal anesthesia and analyzed the intraoperative side effects, like...
OBJECTIVE
This prospective study investigated the feasibility of performing laparoscopic pelvic surgery under spinal anesthesia and analyzed the intraoperative side effects, like pain, nausea, and vomitus, of 915 patients.
METHODS
The implementation and performance of laparoscopic surgery under local anesthesia on 915 patients (out of a total of 3212 who underwent laparoscopic pelvic surgery under spinal anesthesia) were analyzed in relation to BMI (body mass index), obesity, pain during surgery, amount of intraperitoneal mmHg CO gas pressure, and surgical complications.
RESULTS
BMI > 30, intra-abdominal adhesions, increased duration of the operation, bleeding, and increased intraperitoneal CO pressure were statistically significant as the main causes of pain during laparoscopic surgery under spinal anesthesia. Underweight patients, on the other hand, had less pain when intra-abdominal pressure increased compared to those of normal weight. The appearance of pain, nausea, and vomitus occurred in 10.3% of patients, and these events were easy to manage and treat. They did not affect the surgeon's work or the course of the operation.
CONCLUSIONS
In light of these observations, we are proposing spinal anesthesia for laparoscopic surgery as the first choice in patients who have no contraindications. To the best of our knowledge, this clinical study constitutes the largest clinical observation and dataset concerning spinal anesthesia in laparoscopic pelvic surgery.
TRIAL REGISTRATION
ISRCTN38987, 10 December 2019.
PubMed: 38929854
DOI: 10.3390/jpm14060633 -
Diagnostics (Basel, Switzerland) Jun 2024Uterine tumor resembling ovarian sex-cord tumor (UTROSCT) is a rare form of uterine mesenchymal neoplasm. Although UTROSCT generally exhibits benign behavior with a... (Review)
Review
Uterine tumor resembling ovarian sex-cord tumor (UTROSCT) is a rare form of uterine mesenchymal neoplasm. Although UTROSCT generally exhibits benign behavior with a favorable prognosis, this neoplasm is nevertheless classified as being of uncertain malignant potential, given its low rate of recurrence and the fact that it rarely produces metastases (e.g., in the lymph nodes, epiploic appendix, omentum, small bowel, subcutaneous tissue, lungs). Its histogenesis is also uncertain. Typically, UTROSCT occurs in peri-menopausal or menopausal women, but it can sometimes be observed in young women. Usually, this neoplasm can be found in the uterine corpus as a nodular intramural lesion, while it is less frequently submucosal, subserosal, or polypoid/intracavitary. UTROSCT can cause abnormal bleeding, pelvic pain, enlarged uterus, and mass sensation, but sometimes it is found purely by chance. This neoplasm can be considered polyphenotypic on morphological, immunohistochemical, and genetic analyses. Generally, upon microscopic examination, UTROSCT shows a predominant pattern of the cords, nests, and trabeculae typical of sex-cord tumors of the ovary, while immunohistochemically it is characterized by a coexpression of epithelial, smooth muscle, and sex-cord markers. The aim of this review is to report clinical and pathological data and genetic alterations to establish their impact on the prognosis and management of patients affected by this rare entity.
PubMed: 38928686
DOI: 10.3390/diagnostics14121271 -
Minerva Urology and Nephrology Jun 2024The aim is to evaluate factors impacting operating time (OT) during robot-assisted radical prostatectomy (RARP) with or without extended pelvic lymph node dissection...
BACKGROUND
The aim is to evaluate factors impacting operating time (OT) during robot-assisted radical prostatectomy (RARP) with or without extended pelvic lymph node dissection (ePLND) for prostate cancer.
METHODS
Overall, 1289 patients underwent RARP from January 2013 to December 2021. ePLND was performed in 825 cases. Factors potentially associated with OT variations were assessed. Three low-volume (LVS) and two high-volume surgeons (HVS) performed the procedures. A linear regression model was computed to assess associations with OT variations.
RESULTS
When RARP was performed by HVS an OT decrease was observed independently by significant clinical (Body Mass Index [BMI]; prostate volume [PV]) and anatomical/perioperative features (prostate weight [PW]; intraoperative blood loss [BL]) both in clinical (change in OT: -42.979 minutes; 95% CI: -51.789; -34.169; P<0.0001) and anatomical/perioperative models (change in OT: -40.020 minutes; 95% CI: -48.494; -31.587; P<0.0001). A decreased OT was observed in clinical (change in OT: -27.656 minutes; 95% CI: -33.449; -21.864; P<0.0001) and anatomical/perioperative (change in OT: -24.935 minutes; 95% CI: -30.562; -19.308; P<0.0001) models also in case of RARP with ePLND performed by HVS, independently by BMI, PV, PSA as well as for PW, seminal vesicle invasion, positive surgical margins, and BL.
CONCLUSIONS
In a tertiary academic referral center, OT decreased when RARP was performed by HVS, independently of adverse clinical and anatomical/perioperative factors. Available OT loads can be planned to optimize waiting lists, teaching tasks, operative costs, and surgeon's volume.
Topics: Humans; Prostatectomy; Male; Robotic Surgical Procedures; Operative Time; Middle Aged; Prostatic Neoplasms; Aged; Lymph Node Excision; Surgeons; Retrospective Studies
PubMed: 38920011
DOI: 10.23736/S2724-6051.24.05617-9 -
BMC Women's Health Jun 2024Underdiagnosis of female genital tuberculosis (FGTB) often leads to infertility. In this study, we aimed to determine the site and histopathologic patterns of FGTB and...
OBJECTIVE
Underdiagnosis of female genital tuberculosis (FGTB) often leads to infertility. In this study, we aimed to determine the site and histopathologic patterns of FGTB and its correlation with clinical presentation and acid-fast bacilli (AFB) status.
METHODS
A retrospective cross-sectional study was conducted on 122 patients with a histopathological diagnosis of FGTB at the Department of Pathology, College of Health Sciences (CHS), Tikur Anbessa Specialized Hospital (TASH), Addis Ababa University (AAU), from January 1, 2013, to August 30, 2022.
RESULTS
Female genital tuberculosis was found in 0.94% of the gynecology specimens examined. The most common presentations were menstrual disturbance, abdominopelvic pain, and infertility. Among patients with FGTB, 4.6% exhibited misleading clinical and radiologic findings, leading to suspicion of malignancy and subsequent aggressive surgical management. The endometrium was the most frequently affected organ, followed by the fallopian tube, ovary, cervix, and vulva. In the majority of tuberculous endometritis cases (53.3%), histopathology revealed early-stage granulomas. Acid-fast bacilli were found in a significant proportion (42.6%) of FGTB tissues with TB histopathology. The ovary had the highest rate of AFB detection, followed by the fallopian tube, endometrium, and cervix.
CONCLUSION
Female genital tuberculosis should be considered in reproductive-age women presenting with menstrual irregularities, abdominopelvic pain, infertility, or an abdominopelvic mass. The endometrium is commonly affected, displaying early granulomas with low AFB positivity.
Topics: Humans; Female; Tuberculosis, Female Genital; Cross-Sectional Studies; Retrospective Studies; Adult; Ethiopia; Young Adult; Middle Aged; Menstruation Disturbances; Infertility, Female; Endometrium; Adolescent; Cervix Uteri; Pelvic Pain; Fallopian Tubes; Ovary; Abdominal Pain; Vulva; Endometritis
PubMed: 38918726
DOI: 10.1186/s12905-024-03207-8 -
Urolithiasis Jun 2024To identify the radiological parameters which may help to predict the success of ureteral access sheath (UAS) placement during retrograde intrarenal surgery (RIRS).The...
To identify the radiological parameters which may help to predict the success of ureteral access sheath (UAS) placement during retrograde intrarenal surgery (RIRS).The study included 49 patients in whom failure ureteral access sheath placement in RIRS and 49 control group patients who were successfully placement between January 2023 and December 2023. The age, gender, body mass index (BMI), non-contrast computed tomography (NCCT), and kidney ureter bladder (KUB) radiographs were compared between the two groups. Measurements of the anteroposterior (ap) diameter of the pelvic inlet, anteroposterior diameter of the pelvic outlet, interspinous distance diameter were taken from non-contrast computed tomography (NCCT), while pelvic anteroposterior diameter and pelvic lateral diameter were measured from kidney ureter bladder (KUB) radiography. There were no significant differences between the groups in age, gender, body mass index, ap pelvic inlet diameter, ap pelvic outlet, and interspinous distance diameter. However, a statistically significant difference was found between the pelvic ap diameter and pelvic lateral diameter values measured on the KUB radiography. The values for pelvic ap diameter and pelvic lateral diameter measured in the KUB radiographs can be used to predict the likelihood of UAS passage during RIRC procedures. However, further studies with larger patient groups are needed to establish a cut-off value.
Topics: Humans; Female; Male; Middle Aged; Ureter; Tomography, X-Ray Computed; Adult; Aged; Retrospective Studies; Kidney Calculi; Treatment Failure; Kidney; Predictive Value of Tests
PubMed: 38918251
DOI: 10.1007/s00240-024-01599-8 -
Reumatismo Jun 2024In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G>A; p.R261Q) associated with hyperphosphatemic familial tumoral...
In this case report, a novel N-acetylgalactosaminyltransferase 3 homozygous mutation (c.782 G>A; p.R261Q) associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome is described. The patient had elbow, pelvis, and lower limb pain and a hard mass in the hip and olecranon regions. Increased levels of inorganic phosphorus (Pi) and C-reactive protein were observed. After treating the patient with conventional drugs, we tested denosumab, which reduced but did not normalize the Pi.
Topics: Humans; Hyperphosphatemia; Denosumab; Calcinosis; N-Acetylgalactosaminyltransferases; Polypeptide N-acetylgalactosaminyltransferase; Bone Density Conservation Agents; Female; Mutation; Male; Hyperostosis, Cortical, Congenital
PubMed: 38916164
DOI: 10.4081/reumatismo.2024.1687 -
Gynecologic Oncology Reports Aug 2024This report describes a unique case of IgG4-related disease in a 36-year-old woman who presented with a pelvic mass. Although CT and MR imaging initially suggested a...
This report describes a unique case of IgG4-related disease in a 36-year-old woman who presented with a pelvic mass. Although CT and MR imaging initially suggested a malignant process, further work-up including sigmoidoscopy and surgical exploration revealed no evidence of malignancy. The final pathology indicated an inflammatory process, leading to the diagnosis of IgG4-related disease. After receiving appropriate systemic treatment, the patient's symptoms significantly improved. This case underscores the limitations of current imaging studies and emphasizes the importance of considering a wide range of potential diagnoses when dealing with pelvic masses of uncertain etiology.
PubMed: 38912387
DOI: 10.1016/j.gore.2024.101428 -
Cureus May 2024A rarely reported case of diffuse uterine leiomyomatosis is observed in a 43-year-old nulliparous female presenting with abdominal distension and primary infertility....
A rarely reported case of diffuse uterine leiomyomatosis is observed in a 43-year-old nulliparous female presenting with abdominal distension and primary infertility. Magnetic resonance imaging (MRI) of the abdomen and pelvis revealed an enlarged uterus with multiple well-defined lobulated lesions of varying sizes, causing symmetrical uterine enlargement and displacing the adjacent bowel loops superolaterally. The compression of the bladder and inferior vena cava was seen without the involvement of the adjacent structures. The diagnosis of diffuse leiomyomatosis of the uterus was confirmed through histopathological examination of the biopsy.
PubMed: 38910659
DOI: 10.7759/cureus.60827 -
Cureus May 2024Primary lymphoma of the urinary bladder is extremely rare. We present the case of a 67-year-old woman diagnosed with primary extranodal marginal zone lymphoma of...
Primary lymphoma of the urinary bladder is extremely rare. We present the case of a 67-year-old woman diagnosed with primary extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) of the urinary bladder. The patient presented with macroscopic hematuria. Renal ultrasound revealed a solid vascularized mass, in the inferior wall of the bladder. Pelvic computed tomography (CT) and magnetic resonance imaging (MRI) confirmed the presence of a polypoid lesion on the left side of the inferior bladder wall, measuring 40x45 mm, and the MRI study with gadolinium revealed that the entire bladder wall was involved. The patient underwent transurethral resection of the bladder tumor, demonstrating a histologic extensive involvement of bladder tissue by MALT lymphoma. The patient was treated with radiotherapy (24 Gy in 12 fractions) and four cycles of rituximab. She remained without evidence of disease 12 months later.
PubMed: 38910656
DOI: 10.7759/cureus.60885