Therapeutic advances in rare disease最新文献

{"title":"Enhancing diversity, equity, inclusion, and accessibility in eosinophilic gastrointestinal disease research: the consortium for eosinophilic gastrointestinal disease researchers' journey.","authors":"Mirna Chehade, Glenn Furuta, Amy Klion, J Pablo Abonia, Seema Aceves, Paroma Bose, Margaret H Collins, Carla Davis, Evan S Dellon, Grant Eickel, Gary Falk, Sandeep Gupta, Girish Hiremath, Amari Howard, Elizabeth T Jensen, Susamita Kesh, Paneez Khoury, Kendra Kocher, Ellyn Kodroff, Shay Kyle, NaDea Mak, Dawn McCoy, Pooja Mehta, Paul Menard-Katcher, Vincent Mukkada, Ally Paliana, Marc Rothenberg, Kathleen Sable, Cara Schmitt, Melissa Scott, Jonathan Spergel, Mary Jo Strobel, Joshua B Wechsler, Guang-Yu Yang, Amy Zicarelli, Amanda B Muir, Benjamin L Wright, Dominique D Bailey","doi":"10.1177/26330040231180895","DOIUrl":"10.1177/26330040231180895","url":null,"abstract":"<p><p>In response to the social inequities that exist in health care, the NIH-funded Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) recently formed a diversity committee to examine systemic racism and implicit bias in the care and research of eosinophilic gastrointestinal diseases (EGIDs). Herein, we describe our process, highlighting milestones and issues addressed since the committee's inception, which we hope will inspire other researchers to enhance diversity, equity, inclusion, and accessibility (DEIA) in their fields. Our journey began by establishing mission and vision statements to define the purpose of the committee. Regular discussion of diversity-related topics was incorporated into existing meetings and web-based materials were shared. This was followed by educational initiatives, including establishing a library of relevant publications and a speaker series to address DEIA topics. We then established a research agenda focused on the following actionable items: (1) to define what is known about the demographics of EGIDs by systematic review of population-based studies; (2) to develop a practical tool for reporting participant demographics to reduce bias in EGID literature; (3) to examine health disparities in the care of individuals with eosinophilic esophagitis who present to the emergency department with an esophageal food impaction; (4) to examine how access to a gastroenterologist affects the conclusions of published research examining the prevalence of pediatric eosinophilic esophagitis; and (5) to develop a model for examining the dimensions of diversity, and provide a framework for CEGIR's ongoing projects and data capture. In addition to promoting consciousness of DEIA, this initiative has fostered inclusivity among CEGIR members and will continue to inspire positive changes in EGID care and research.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231180895"},"PeriodicalIF":0.0,"publicationDate":"2023-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/97/1d/10.1177_26330040231180895.PMC10426297.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10355837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies.","authors":"Katherine L Beaverson, Daria Julkowska, Mary Catherine V Letinturier, Annemieke Aartsma-Rus, Jennifer Austin, Juan Bueren, Simon Frost, Misako Hamamura, Jane Larkindale, Greg LaRosa, Rita Magenheim, Annamaria Merico, Anna Maria Gerdina Pasmooij, Vinciane Pirard, Nicholas Ekow Thomford, Michihiko Wada, Durhane Wong-Rieger, Adam L Hartman","doi":"10.1177/26330040231188979","DOIUrl":"10.1177/26330040231188979","url":null,"abstract":"<p><strong>Background: </strong>The International Rare Diseases Research Consortium (IRDiRC) is an international initiative that aims to use research to facilitate rapid diagnosis and treatment of rare diseases.</p><p><strong>Objective: </strong>IRDiRC launched the Chrysalis Task Force to identify key financial and nonfinancial factors that make rare disease research and development attractive to companies.</p><p><strong>Methods: </strong>The Chrysalis Task Force was comprised of thought leaders from companies, patient advocacy groups, regulatory agencies, and research funders. The Task Force created a survey that was distributed to companies of different sizes with varied investment portfolios and interests in rare disease research. Based on the survey results, the Task Force then conducted targeted interviews.</p><p><strong>Results: </strong>The survey and interview respondents identified several factors that make rare disease research and development attractive (e.g. a good understanding of the underlying biology) as well as barriers (e.g. absence of an advocacy organization representing the affected community's needs). The concept of Return On Investment allowed the exploration of factors that were weighed differently by survey and interview respondents, depending on a number of intrinsic and extrinsic issues.</p><p><strong>Conclusions: </strong>The Chrysalis Task Force identified factors attributable to rare disease research and development that may be of interest to and actionable by funders, academic researchers, patients and their families, companies, regulators, and payers in the medium term to short term. By addressing the identified challenges, involved parties may seek solutions to significantly advance the research and development of treatments for rare diseases.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231188979"},"PeriodicalIF":0.0,"publicationDate":"2023-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1f/fb/10.1177_26330040231188979.PMC10387802.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10666607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emerging roles and opportunities for rare disease patient advocacy groups.","authors":"Amy M Patterson, Megan O'Boyle, Grace E VanNoy, Kira A Dies","doi":"10.1177/26330040231164425","DOIUrl":"10.1177/26330040231164425","url":null,"abstract":"<p><strong>Background: </strong>Patient advocacy groups (PAGs) serve a vital role for rare disease patients and families by providing educational resources, support, and a sense of community. Motivated by patient need, PAGs are increasingly at the forefront of policy, research, and drug development for their disease of interest.</p><p><strong>Objectives: </strong>The study explored the current landscape of PAGs in order to guide new and existing PAGs on available resources and challenges to research engagement. We aim to inform industry, advocates, and healthcare personnel about PAG achievements and ways they are increasingly involved in research.</p><p><strong>Design: </strong>We chose PAGs from the Rare Diseases Clinical Research Network (RDCRN) Coalition for Patient Advocacy Groups (CPAG) listserv and the National Organization for Rare Disorders (NORD) 'Find a patient organization'.</p><p><strong>Methods: </strong>We surveyed eligible PAG leaders about the demographics, goals, and research activities of their organization. For analysis, PAGs were bucketed by size, age, prevalence of disease, and budget. Data were de-identified for cross-tabulation and multinomial logistic regression analysis with R.</p><p><strong>Results: </strong>Research engagement was an extremely important goal for most PAGs (81%), though ultra-rare disease and high-budget PAGs were most likely to cite it as the top priority. In total, 79% reported research engagement in some capacity, including registries, translational research, and clinical trials. 'Ultra-rare' PAGs were less likely than 'rare' PAGs to have an ongoing clinical trial.</p><p><strong>Conclusion: </strong>While PAGs of varying sizes, budgets, and maturity levels reported an interest in research, limited funding and lack of disease awareness continue to create barriers to achieving their goals. While support tools exist to make research more accessible, often their utility depends on the funding, sustainability, maturity of the PAG itself, and the level of investment of collaborators. Despite the availability of current support systems, there are challenges related to both the start-up and sustainability of patient-centric research efforts.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231164425"},"PeriodicalIF":0.0,"publicationDate":"2023-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/49/cc/10.1177_26330040231164425.PMC10184204.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9491773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Papilledema and retinopathy lead to diagnosis of IgA nephropathy: a case report.","authors":"James T Kwan,&nbsp;Erin Lanzo,&nbsp;David J Ramsey,&nbsp;Aarti Kalra,&nbsp;Geetha K Athappilly-Rolfe","doi":"10.1177/26330040231152957","DOIUrl":"10.1177/26330040231152957","url":null,"abstract":"<p><p>This case features a young healthy male who was diagnosed with immunoglobulin A (IgA) nephropathy after presenting with blurry vision that was caused by hypertensive retinopathy and papilledema. In this report, we examine the relationship between hypertension and increased intracranial pressure (ICP), along with the ocular signs of IgA nephropathy that may present in the setting of kidney disease.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231152957"},"PeriodicalIF":0.0,"publicationDate":"2023-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f6/93/10.1177_26330040231152957.PMC10032434.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9473477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report.","authors":"Pankti Haria,&nbsp;Vinayak Kedage,&nbsp;Pradnya Dalvi,&nbsp;Satyen Sanghavi,&nbsp;Parvathi Chandran","doi":"10.1177/26330040231154283","DOIUrl":"10.1177/26330040231154283","url":null,"abstract":"<p><p>Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, polydystrophic dwarfism, and arysulfatase B (ASB) deficiency, is a lysosomal storage disorder with autosomal recessive inheritance characterized by progressive multisystem involved that causes many tissues and organs to enlarge and become inflamed. Skeletal deformities are common that progress and worsen in varying degrees thus affecting quality of life and life expectancy. Many studies have shown that allogeneic hematopoietic stem cell transplantation can reduce morbidity and enhance the survival and quality of life in such patients. We present a case of a 6-year-old girl diagnosed with MPS VI at the age of 3 years. Thereafter the patient developed various complications of the disease causing morbidity. She was then treated with combined umbilical cord blood (UCB) and bone marrow (BM) transplantation from complete human leukocyte antigen-matched (6/6) donor which was her younger sibling. The transplant was successful without any serious adverse effects. No additional treatments such as enzyme replacement therapy (ERT) were required. The transplantation of UCB along with BM can be considered as an effective treatment approach for this rare disease.</p><p><strong>Plain language summary: </strong><b>Case of MPS VI treated with stem cell transplantation:</b> This article reports a case of a 6-year-old girl who was diagnosed with mucopolysaccharidosis type VI also known as MPS VI, an autosomal recessive disorder that caused her arysulfatase B (ASB) deficiency. This disorder affects growth velocity, gives coarse facial features, gives rise to skeletal deformities, frequent upper-airway infections, enlarged liver and spleen, hearing loss, and joint stiffness. However, very few studies have reported definitive ways to treat or cure MPS VI. To help her combat this disorder, combined umbilical cord blood and bone marrow transplantation was done. This transplant alleviated her symptoms, and the patient did not need any further treatment. Follow-up, 4 years after transplantation, shows normal enzyme level, no complications, and improved quality of life.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231154283"},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/69/db/10.1177_26330040231154283.PMC10032436.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10645349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.","authors":"Silvia Radenkovic,&nbsp;Christin Johnsen,&nbsp;Andreas Schulze,&nbsp;Gurnoor Lail,&nbsp;Laura Guilder,&nbsp;Kaitlin Schwartz,&nbsp;Matthew Schultz,&nbsp;Saadet Mercimek-Andrews,&nbsp;Suzanne Boyer,&nbsp;Eva Morava","doi":"10.1177/26330040221150269","DOIUrl":"10.1177/26330040221150269","url":null,"abstract":"<p><p>Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) (OMIM: 614921) is a rare autosomal recessive inherited metabolic disease caused by the deficiency of the PGM1 enzyme. Like other CDGs, PGM1-CDG has a multisystemic presentation. The most common clinical findings include liver involvement, rhabdomyolysis, hypoglycemia, and cardiac involvement. Phenotypic severity can vary, though cardiac presentation is usually part of the most severe phenotype, often resulting in early death. Unlike the majority of CDGs, PGM1-CDG has a treatment: oral D-galactose (D-gal) supplementation, which significantly improves many aspects of the disorder. Here, we describe five PGM1-CDG patients treated with D-gal and report both on novel clinical symptoms in PGM1-CDG as well as the effects of the D-gal treatment. D-gal resulted in notable clinical improvement in four patients, though the efficacy of treatment varied between the patients. Furthermore, there was a significant improvement or normalization in transferrin glycosylation, liver transaminases and coagulation factors in three patients, creatine kinase (CK) levels in two, while hypoglycemia resolved in two patients. One patient discontinued the treatment due to urinary frequency and lack of clinical improvement. Furthermore, one patient experienced recurrent episodes of rhabdomyolysis and tachycardia even on higher doses of therapy. D-gal also failed to improve the cardiac function, which was initially abnormal in three patients, and remains the biggest challenge in treating PGM1-CDG. Together, our findings expand the phenotype of PGM1-CDG and underline the importance of developing novel therapies that would specifically treat the cardiac phenotype in PGM1-CDG.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040221150269"},"PeriodicalIF":0.0,"publicationDate":"2023-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/73/89/10.1177_26330040221150269.PMC10032428.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10299664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.","authors":"Faizal Z Asumda,&nbsp;Jessica A Kraker,&nbsp;Sarah C Thomas,&nbsp;Joseph Maleszewski,&nbsp;Edwin M Stone,&nbsp;Brendan C Lanpher,&nbsp;Lisa A Schimmenti","doi":"10.1177/26330040221145945","DOIUrl":"10.1177/26330040221145945","url":null,"abstract":"<p><p>Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by deficient levels and/or activity of glycosaminoglycan (GAG)-degradative enzymes. MPS are characterized by accumulation of the mucopolysaccharides heparan sulfate, dermatan sulfate, keratan sulfate, or chondroitin sulfate in tissues. We report the case of a 38-year-old woman with a history of joint restriction and retinitis pigmentosa who developed bivalvular heart failure requiring surgery. It was not until pathological examination of surgically excised valvular tissue that a diagnosis of MPS I was made. Her musculoskeletal and ophthalmologic symptoms, when placed in the context of MPS I, painted the diagnostic picture of a genetic syndrome that was overlooked until a diagnosis was made in late middle age.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040221145945"},"PeriodicalIF":0.0,"publicationDate":"2023-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/46/bf/10.1177_26330040221145945.PMC10032445.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9470358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bulbar conjunctival plexiform schwannoma in a 5-year-old patient; expect the unexpected!","authors":"Mona Kenani,&nbsp;Rafaa Babgi,&nbsp;Sultan Bakri","doi":"10.1177/26330040231178321","DOIUrl":"https://doi.org/10.1177/26330040231178321","url":null,"abstract":"<p><p>Rare, atypical ophthalmological conditions in adults include bulbar conjunctival plexiform schwannomas, which are usually asymptomatic. Few case reports in the literature indicate the presence of orbital/conjunctival schwannomas in adult patients and, rarely, among children under the age of 12. We report a case of a 5-year-old girl who presented in an outpatient clinic with inferior temporal conjunctival nonpigmented cystic lesion of a 10 × 10 mm size. Upon examination, we could not identify a feeding vessel. The mass was mobile and not fixed to the sclera. The history indicated a 1-year duration but the mass in the left eye had progressively increased in size during the last 2 months prior to presentation. There was no traumatic injury or past history of ophthalmic surgery. Surgical excision of the cyst was sucessfully performed, and histopathological examination confirmed bulbar conjunctival plexiform schwannoma diagnosis. Upon regular follow-up evaluation, there was no evidence of recurrence or malignant transformation. Although it is extremely rare to encounter conjunctival schwannomas in children, it should be considered in ovoidal well-circumscribed orbital swellings, particularly those that appear with no history of trauma or surgery to the eye. Surgical excision is effective and safe therapeutic intervention.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231178321"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/51/8a/10.1177_26330040231178321.PMC10285596.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10072655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel case of homozygous PAX1 mutation associated with hypoparathyroidism.","authors":"Benjamin L Hamel,&nbsp;Seema Kumar,&nbsp;Leah Heidenreich,&nbsp;Avni Joshi,&nbsp;Christiana DaSilva,&nbsp;Faizal Z Asumda","doi":"10.1177/26330040231158776","DOIUrl":"https://doi.org/10.1177/26330040231158776","url":null,"abstract":"<p><p>The PAX1 gene plays an important role in the development of the parathyroid glands and the thymus. Mouse knockout models of PAX1, PAX3, and PAX9 have been found to have hypoplastic or absent parathyroid glands. To our knowledge, there are no reported cases of PAX1-associated hypoparathyroidism in humans. We present a case of hypoparathyroidism in a 23-month-old boy with a homozygous pathogenic variant in the PAX1 gene (<i>PAX1</i> NM_006192.5 c.463_465del variant), predicted to cause an in-frame deletion of asparagine at position 155 (p.Asn155del) of the PAX1 protein. The hypoparathyroidism was unmasked after the patient developed significant hypocalcemia while receiving GoLYTELY (polyethylene glycol 3350, sodium sulfate anhydrous, sodium bicarbonate, sodium chloride, potassium chloride) for bowel cleanout. The patient had mild and asymptomatic hypocalcemia prior to hospitalization. The patient was noted to have inappropriately normal parathyroid hormone (PTH) level at the time of documented hypocalcemia thereby suggesting a diagnosis of hypoparathyroidism.</p><p><strong>Plain language summary: </strong><b>The first human case of hypoparathyroidism associated with a rare genetic disorder: a case report of PAX1 gene mutation</b> The paired box (<i>PAX</i>) gene family is important for embryo development. One subfamily, PAX1, is necessary for development of the spinal column, thymus (important for the immune system development), and parathyroid (helps regulate the amount of calcium in the body). We present the case of a 23-month-old boy with known PAX1 gene mutation who came in with episodes of vomiting and poor growth. His presentation was thought to be most likely related to constipation. He was started on bowel cleanout medication and intravenous fluids. However, his calcium that had been mildly low subsequently dropped to very low levels. The level of parathyroid hormone (which helps regulate calcium levels) was inappropriately normal, meaning that his body was unable to make more, and was consistent with hypoparathyroidism. He was treated with calcium supplements and vitamin D and calcium levels normalized. He continues to be on calcium and vitamin D and calcium levels have remained stable. Doctors should keep this complication in mind when treating patients with PAX1 gene mutation.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231158776"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9c/c4/10.1177_26330040231158776.PMC10184197.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9486506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review.","authors":"Iwens Moreira de Faria,&nbsp;Augusto Machado de Souza,&nbsp;Luiz Rodrigues Pereira Júnior,&nbsp;Gabriel Gomes Vieira Ribeiro Leite","doi":"10.1177/26330040231184484","DOIUrl":"https://doi.org/10.1177/26330040231184484","url":null,"abstract":"<p><p>Persistent Mullerian Duct Syndrome (PMDS) is an extremely rare disease with less than 300 cases recorded in medical literature. Our patient was a 37 year old male who presented at the medical office with hematospermia as his sole complaint. He had previously undergone left orchidopexy and presented with hypotrophic left testicle and right testicle agenesis. PMDS differential was considered with the clear observation of a uterus-like structure during pelvic ultrasonography. The organs were later studied in magnetic resonance imaging and confirmed by post-surgery anatomopathological examination. Patient was discharged 24 h after surgery and developed azoospermia post-surgery.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231184484"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2c/b1/10.1177_26330040231184484.PMC10331220.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9817927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}