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American Journal of Medical Genetics.... Apr 2019Tumor growths, migraine headaches, and other health-related complications reported in patients with neurofibromatosis type 1 (NF1) are often associated with pain. Thus,...
Tumor growths, migraine headaches, and other health-related complications reported in patients with neurofibromatosis type 1 (NF1) are often associated with pain. Thus, this study sought to describe and quantify the pain experience in children and young adults with NF1. Surveys were administered to 49 participants (28 children and 21 adults), ages 8 through 40 years. The survey included the Numeric Rating Scale 11 (NRS11) to assess pain intensity and the Patient Reported Outcomes Measurement Information System (PROMIS) to assess pain interference. A supplemental survey was created to measure pain frequency, chronicity, quality, and location. Results suggest pain is not only present in 55% of the cohort, but that it can begin at early ages. Pain was chronic in 35% of participants, with 41% reporting the use of medication to manage pain symptoms. Common sources of pain included migraine headaches and NF-related tumors. Pain was described as having neuropathic features (i.e., burning, tingling, numbness, or itching), and was localized to the head, back, and extremities. Further, subsets of participants reported moderate-to-severe pain intensity, high frequency of pain, and interference of pain in daily activities. Continued investigation of the pain experience in a multisystem disorder, such as NF1, remains essential to providing guidance in the setting of complex pain management.
Topics: Adolescent; Adult; Child; Chronic Disease; Cohort Studies; Cross-Sectional Studies; Female; Humans; Male; Neurofibromatosis 1; Ohio; Pain; Pain Measurement; Quality of Life; Severity of Illness Index; Surveys and Questionnaires; Young Adult
PubMed: 30737893
DOI: 10.1002/ajmg.a.61069 -
Lin Chuang Er Bi Yan Hou Tou Jing Wai... Jun 2022Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disease in which a mutation in the NF1 gene on chromosome 17q11.2 results in inactivation or... (Review)
Review
Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disease in which a mutation in the NF1 gene on chromosome 17q11.2 results in inactivation or down-regulation of neurofibromin. This results in a series of neurocutaneous lesions characterized by neurofibromatosis. Patients with plexiform neurofibromas(PN), as one of the main manifestations of NF1, often experience pain, dysfunction, skeletal deformities, changes in appearance and other symptoms. In severe cases, compression of the airways and vital organs occurs, and the PN is at risk of malignancy progression. At present, its treatment is still challenging. Surgery is the primary treatment for PN, but complete resection is often difficult. In recent years, chemotherapy for PN has become a hot topic. This article reviews the research progress in the pathogenesis, diagnosis and treatment of PN in recent years.
Topics: Child; Genes, Neurofibromatosis 1; Humans; Mutation; Neurofibroma, Plexiform; Neurofibromatosis 1
PubMed: 35822370
DOI: 10.13201/j.issn.2096-7993.2022.06.015 -
Archivos Argentinos de Pediatria Jun 2018The appropraite surgical treatment to pediatric patients with ovarian lesions are heterogeneous and ovarian preservation is desirable in children. The aim of this study...
INTRODUCTION
The appropraite surgical treatment to pediatric patients with ovarian lesions are heterogeneous and ovarian preservation is desirable in children. The aim of this study is to the discuss findings related to a set of patients who were operated on for ovarian lesions.
PATIENTS AND METHODS
A retrospective study carried out in 13 years on 56 patients under the age of 17. These patients were divided into 3 groups according to ovarian pathologic diagnosis: 25 with functional (cyts and torsion), 18 with epithelial ovarian lesions and 13 with germ cell tumours. These three groups were compared in terms of menarche, torsion, age, duration, size, pain, mass, vomiting, irregular menstruation, location and operation type.
RESULTS
Follicle cysts, serous cyst adenomas and teratomas were the most common in these groups. The mean age of the patients was 12.18±4.84 years. The most common symptoms and signs were abdominal-pelvic pain (85.7%) and swelling(37.5%). Torsion was seen in 21 patients (37.5%), mean mass size was found to be 10.46±6.55 cm. A salpingo-oophorectomy (SO) was performed in 38 patients and cyst excision (CE) was performed in 18 patients. In premenarcheal cases, torsion was seen more in menarcheal cases and in the functional lesion group. CE was performed more often in the functional and t SO was performed often in the epithelial and germ cells groups.
CONCLUSION
Torsion and functional ovarian pathologies are thought to be common in premenstrual ages and malign lesions are very rare in all age groups so we recommend ovarian protective surgery should be preferred.
Topics: Abdominal Pain; Adolescent; Age Factors; Child; Child, Preschool; Female; Humans; Infant; Neoplasms, Germ Cell and Embryonal; Organ Preservation; Ovarian Cysts; Ovarian Diseases; Ovarian Neoplasms; Pelvic Pain; Retrospective Studies; Salpingo-oophorectomy; Torsion Abnormality
PubMed: 29756706
DOI: 10.5546/aap.2018.eng.e356 -
Annals of Clinical and Translational... Jul 2021Schwannomas are benign neoplasms that can cause gain- and loss-of-function neurological phenotypes, including severe, intractable pain. To investigate the molecular...
Schwannomas are benign neoplasms that can cause gain- and loss-of-function neurological phenotypes, including severe, intractable pain. To investigate the molecular mechanisms underlying schwannoma-associated pain we compared the RNA sequencing profile of painful and non-painful schwannomas from NF2 patients. Distinct segregation of painful and non-painful tumors by gene expression patterns was observed. Differential expression analysis showed the upregulation of fibroblast growth factor 7 (FGF7) in painful schwannomas. Behavioral support for this finding was observed using a xenograft human NF2-schwannoma model in nude mice. In this model, over-expression of FGF7 in intra-sciatically implanted NF2 tumor cells generated pain behavior compared with controls.
Topics: Animals; Cell Line, Tumor; Female; Fibroblast Growth Factor 7; Humans; Male; Mice; Mice, Nude; Neurilemmoma; Neurofibromatosis 2; Pain; Sciatic Neuropathy; Sequence Analysis, RNA; Transcriptome; Xenograft Model Antitumor Assays
PubMed: 34053190
DOI: 10.1002/acn3.51386 -
Revista de La Facultad de Ciencias... Dec 2023The paraovarian or paratubarian cysts are both situated in the broad ligament between the ovary and fallopian tube. The diagnosis of adnexal torsion is challenging...
The paraovarian or paratubarian cysts are both situated in the broad ligament between the ovary and fallopian tube. The diagnosis of adnexal torsion is challenging since both symptoms and physical examination are nonspecific. In most cases, the patient presents abdominal pain, followed by nausea and vomiting. Imaging tests, such as ultrasound, are very useful to elucidate the cause of the symptoms in those patients.
Topics: Female; Humans; Ovarian Torsion; Cysts; Abdominal Pain
PubMed: 38150207
DOI: 10.31053/1853.0605.v80.n4.40830 -
Danish Medical Journal Dec 2022Simple hepatic cyst (SHC) can cause symptoms due to compression of the surrounding structures. The aim of the present study was to evaluate symptoms, treatment,...
INTRODUCTION
Simple hepatic cyst (SHC) can cause symptoms due to compression of the surrounding structures. The aim of the present study was to evaluate symptoms, treatment, recurrence rate and post-operative complications of patients treated for symptomatic SHC.
METHODS
Patients were identified from medical records. The inclusion criteria were symptomatic SHC, treatment with percutaneous aspiration or laparoscopic deroofing or both. Age, gender, symptoms, type of treatment, post-operative complications, recurrence of symptomatic liver cyst and time of symptomatic relief were recorded.
RESULTS
A total of 66 patients were included. The most common symptom was abdominal discomfort and/or pain, which was reported in 88%. Nine patients received two, one received three and one received four cyst aspirations before further treatment or no recurrence of symptoms. A total of 84.7% had recurrence of symptoms after aspiration. Forty patients were treated with laparoscopic deroofing, 37 (92.5%) had relief of symptoms. Complications reported after cyst drainage was prolonged drainage (n = 1), dyspnoea (n = 1), bleeding (n = 2) and peritonitis (n = 2). After laparoscopic deroofing, the only post-operative complication was wound infection (n = 2).
CONCLUSIONS
The present study showed that percutaneous aspiration of symptomatic SHC should be performed to ensure that the symptoms are related to the cyst. Laparoscopic deroofing has proven a definitive treatment for simple SHC and is associated with a low recurrence rate and few post-operative complications.
FUNDING
none.
TRIAL REGISTRATION
not relevant.
Topics: Humans; Liver Diseases; Cysts; Drainage; Postoperative Complications; Laparoscopy; Treatment Outcome
PubMed: 36629296
DOI: No ID Found -
Journal of Clinical Oncology : Official... Mar 2021Patients with neurofibromatosis type 1 (NF1) frequently develop plexiform neurofibromas (PNs), which can cause significant morbidity. We performed a phase II trial of...
NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas.
PURPOSE
Patients with neurofibromatosis type 1 (NF1) frequently develop plexiform neurofibromas (PNs), which can cause significant morbidity. We performed a phase II trial of the MAPK/ERK kinase inhibitor, mirdametinib (PD-0325901), in patients with NF1 and inoperable PNs. The primary objective was response rate based on volumetric magnetic resonance imaging analysis.
METHODS
Inclusion criteria included age ≥ 16 years and a PN that was either progressive or causing significant morbidity. First-dose pharmacokinetics were performed. Patients completed patient-reported outcome measures. Patients received mirdametinib by mouth twice a day at 2 mg/m/dose (maximum dose = 4 mg twice a day) in a 3-week on/1-week off sequence. Each course was 4 weeks in duration. Evaluations were performed after four courses for the first year and then after every six courses. Patients could receive a maximum of 24 total courses.
RESULTS
Nineteen patients were enrolled, and all 19 received mirdametinib. The median age was 24 years (range, 16-39 years); the median baseline tumor volume was 363.8 mL (range, 3.9-5,161 mL). Eight of the 19 patients (42%) achieved a partial response of the target PN by course 12, and 10 (53%) had stable disease. One patient (5%) developed progressive disease at course 8. Significant and durable decreases were observed in pain ratings.
CONCLUSION
To our knowledge, this analysis represents the first characterization of the activity and pharmacokinetics of mirdametinib in patients with NF1 and PNs and is the first published response study for MAPK/ERK kinase inhibitors in adults with NF1 and PNs. Mirdametinib given at 2 mg/m/dose (maximum dose, 4 mg) twice daily in a 3-week on/1-week off sequence resulted in a 42% partial response rate with preliminary evidence of reduction in pain.
Topics: Adolescent; Adult; Benzamides; Diphenylamine; Female; Humans; Magnetic Resonance Imaging; Male; Mitogen-Activated Protein Kinase Kinases; Neurofibroma, Plexiform; Neurofibromatosis 1; Protein Kinase Inhibitors; Time Factors; Treatment Outcome; United States; Young Adult
PubMed: 33507822
DOI: 10.1200/JCO.20.02220 -
The Journal of Obstetrics and... Sep 2018To describe the clinical findings and urogenital symptoms associated with sacral perineural cysts (Tarlov cysts).
AIM
To describe the clinical findings and urogenital symptoms associated with sacral perineural cysts (Tarlov cysts).
METHODS
A retrospective chart review including 65 female patients with Tarlov cysts was completed. Clinical findings were collected from a database of subjects seen in our institution's urogynecology and neurosurgery clinics between 2004 and 2015. A statistical analysis was performed to test for any correlation between cyst size or location, and patient symptoms or examination findings.
RESULTS
Tarlov cysts were most commonly located from S2 to S3 (73%), and ranged in size from 1 to 2 cm (55%). Frequently reported symptoms included lower back pain (83%, 95% confidence interval [CI] 0.71-0.91), lower extremity radiculopathy (75%, CI 0.63-0.85), positional pain (62%, CI 0.50-0.73), urinary urgency (54%, CI 0.41-0.66) and urinary frequency (48%, CI 0.35-0.61). Common urodynamic findings included an early sensation of filling (70%), involuntary detrusor contractions (33%), urethral instability (33%) and stress urinary incontinence (33%). A statistical analysis comparing cyst size and location to clinical findings was significant for a correlation between an S2 location and central nervous system symptoms (P = 0.02), larger cyst size and urinary dysfunction (P = 0.05) and smaller cyst size and an early sensation of filling (P = 0.05).
CONCLUSION
Patients with symptomatic sacral Tarlov cysts frequently report pain and neuropathy related to the lower back, pelvis and urogenital system. As compared to the general population, urinary urgency and urodynamic findings associated with urgency were more frequent in our patient sample. These findings suggest that Tarlov cysts may have a clinically significant impact on urogenital function.
Topics: Adult; Aged; Aged, 80 and over; Female; Humans; Low Back Pain; Middle Aged; Pelvic Pain; Radiculopathy; Retrospective Studies; Tarlov Cysts; Urination Disorders
PubMed: 29974579
DOI: 10.1111/jog.13711 -
Computational and Mathematical Methods... 2022Surgery is the mainstay of treatment for oral and maxillofacial cysts. Compared with open surgery that will bring more harm to patients, fenestration decompression, as a...
BACKGROUND
Surgery is the mainstay of treatment for oral and maxillofacial cysts. Compared with open surgery that will bring more harm to patients, fenestration decompression, as a surgical method with good curative effects and little damage, has received increasing attention in the treatment of oral and maxillofacial cysts.
METHODS
The clinical data of 135 patients with oral and maxillofacial cysts visited the Fifth Central Hospital of Tianjin between June 2019 and September 2021 were collected for retrospective analysis. Patients were assigned to two groups based on the treatment plan implemented: the control group ( = 64) treated with curettage of cysts and the observation group ( = 71) with fenestration decompression. Therapeutic efficacy parameters and surgical indicators were detected. Additionally, postoperative cyst, pain, complication rate, and recurrence, as well as life quality six months after treatment, were evaluated and compared.
RESULTS
In comparison with the control group, the observation group was observed to have a higher total effective rate, less operation time, shorter hospital stays, and less intraoperative bleeding ( < 0.05). In addition, the shrinkage rate, shrinkage volume, and postoperative density of the cyst cavity were higher in the observation group than in the control group ( < 0.05). The observation group also outperformed the control group with lower postoperative VAS score, complication rate, and half-year recurrence rate ( < 0.05). Furthermore, significantly better life quality was determined in the observation group after half a year of treatment ( < 0.05).
CONCLUSION
Fenestration decompression is highly effective in treating oral and maxillofacial cysts, contributing to fewer complications, markedly relieved symptoms, shorter hospitalization time, well-preserved facial nerves, and low recurrence rate in the later period, which is worthy of clinical promotion.
Topics: Cysts; Decompression; Humans; Length of Stay; Retrospective Studies; Treatment Outcome
PubMed: 35799654
DOI: 10.1155/2022/2262547 -
Human Reproduction (Oxford, England) Oct 2015What are the pain characteristics among women, with no prior endometriosis diagnosis, undergoing laparoscopy or laparotomy regardless of clinical indication?
STUDY QUESTION
What are the pain characteristics among women, with no prior endometriosis diagnosis, undergoing laparoscopy or laparotomy regardless of clinical indication?
SUMMARY ANSWER
Women with surgically visualized endometriosis reported the highest chronic/cyclic pain and significantly greater dyspareunia, dysmenorrhea, and dyschezia compared with women with other gynecologic pathology (including uterine fibroids, pelvic adhesions, benign ovarian cysts, neoplasms and congenital Müllerian anomalies) or a normal pelvis.
WHAT IS KNOWN ALREADY
Prior research has shown that various treatments for pain associated with endometriosis can be effective, making identification of specific pain characteristics in relation to endometriosis necessary for informing disease diagnosis and management.
STUDY DESIGN, SIZE, DURATION
The study population for these analyses includes the ENDO Study (2007-2009) operative cohort: 473 women, ages 18-44 years, who underwent a diagnostic and/or therapeutic laparoscopy or laparotomy at one of 14 surgical centers located in Salt Lake City, UT or San Francisco, CA. Women with a history of surgically confirmed endometriosis were excluded.
PARTICIPANTS/MATERIALS, SETTING AND METHODS
Endometriosis was defined as surgically visualized disease; staging was based on revised American Society for Reproductive Medicine (rASRM) criteria. All women completed a computer-assisted personal interview at baseline specifying 17 types of pain (rating severity via 11-point visual analog scale) and identifying any of 35 perineal and 60 full-body front and 60 full-body back sites for which they experienced pain in the last 6 months.
MAIN RESULTS AND THE ROLE OF CHANCE
There was a high prevalence (≥30%) of chronic and cyclic pelvic pain reported by the entire study cohort regardless of post-operative diagnosis. However, women with a post-operative endometriosis diagnosis, compared with women diagnosed with other gynecologic disorders or a normal pelvis, reported more cyclic pelvic pain (49.5% versus 31.0% and 33.1%, P < 0.001). Additionally, women with endometriosis compared with women with a normal pelvis experienced more chronic pain (44.2 versus 30.2%, P = 0.04). Deep pain with intercourse, cramping with periods, and pain with bowel elimination were much more likely reported in women with versus without endometriosis (all P < 0.002). A higher percentage of women diagnosed with endometriosis compared with women with a normal pelvis reported vaginal (22.6 versus 10.3%, P < 0.01), right labial (18.4 versus 8.1%, P < 0.05) and left labial pain (15.3 versus 3.7%, P < 0.01) along with pain in the right/left hypogastric and umbilical abdominopelvic regions (P < 0.05 for all). Among women with endometriosis, no clear and consistent patterns emerged regarding pain characteristics and endometriosis staging or anatomic location.
LIMITATIONS, REASONS FOR CAUTION
Interpretation of our findings requires caution given that we were limited in our assessment of pain characteristics by endometriosis staging and anatomic location due to the majority of women having minimal (stage I) disease (56%) and lesions in peritoneum-only location (51%). Significance tests for pain topology related to gynecologic pathology were not corrected for multiple comparisons.
WIDER IMPLICATIONS OF THE FINDINGS
Results of our research suggest that while women with endometriosis appear to have higher pelvic pain, particularly dyspareunia, dysmenorrhea, dyschezia and pain in the vaginal and abdominopelvic area than women with other gynecologic disorders or a normal pelvis, pelvic pain is commonly reported among women undergoing laparoscopy, even among women with no identified gynecologic pathology. Future research should explore causes of pelvic pain among women who seek out gynecologic care but with no apparent gynecologic pathology. Given our and other's research showing little correlation between pelvic pain and rASRM staging among women with endometriosis, further development and use of a classification system that can better predict outcomes for endometriosis patients with pelvic pain for both surgical and nonsurgical treatment is needed.
STUDY FUNDING/COMPETING INTERESTS
Supported by the Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (contracts NO1-DK-6-3428, NO1-DK-6-3427, and 10001406-02). The authors have no potential competing interests.
Topics: Adolescent; Adult; Cohort Studies; Constipation; Dysmenorrhea; Dyspareunia; Endometriosis; Female; Humans; Incidence; Laparoscopy; Laparotomy; Leiomyoma; Ovarian Cysts; Pain; Pain Management; Pain Measurement; Pelvic Pain; Peritoneum; Prevalence; Tissue Adhesions; Young Adult
PubMed: 26269529
DOI: 10.1093/humrep/dev147