journal
Journals Intractable & Rare Diseases Re...

Intractable & Rare Diseases Research

https://read.qxmd.com/read/37662628/vexas-syndrome-current-clinical-diagnostic-and-treatment-approaches
#21
REVIEW
Senol Kobak
VEXAS syndrome, is a hemato-inflammatory chronic disease characterized with predominantly rheumatic and hematologic systemic involvement. It was first described in 2020 by a group of researchers in the United States. VEXAS syndrome is a rare condition that primarily affects adult males and is caused by a mutation in the UBA1 gene located on the X chromosome. Its pathogenesis is related to the somatic mutation affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation. Mutant gene lead to decreased ubiquitination and activated innate immune pathways and systemic inflammation occur...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37662627/carbonic-anhydrase-ii-deficiency-syndrome-with-amelogenesis-imperfecta-linked-to-a-homozygous-ca2-deletion
#22
JOURNAL ARTICLE
Luan Deives Rodrigues Leite, Kêmelly Karolliny Moreira Resende, Lídia Dos Santos Rosa, Juliana Forte Mazzeu, Livia Claudio de Oliveira, Maria do Carmo Sorci Dias Scher, Ana Carolina Acevedo, Paulo Marcio Yamaguti
We performed a study to present a phenotypic and genotypic characterization of a patient clinically diagnosed with carbonic anhydrase II (CAII) deficiency syndrome. Medical records were reviewed, and oral examination was performed. Sanger sequencing was undertaken for molecular diagnosis. The patient presented with osteopetrosis, renal tubular acidosis, cerebral calcification, blindness, deafness, and development delay. The oral manifestations included anterior open bite, posterior crossbite, tooth eruption impairment, and hypoplastic amelogenesis imperfecta (AI)...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37662626/analysis-of-microsatellite-instability-msi-in-pediatric-gonadal-and-extra-gonadal-germ-cell-tumors
#23
JOURNAL ARTICLE
Marco Montella, Maria Elena Errico, Andrea Ronchi, Giuseppa Zannini, Vittoria Donofrio, Giovanni Savarese, Roberto Sirica, Francesco Esposito, Marco De Martino, Alfonso Papparella, Renato Franco, Paolo Chieffi, Federica Zito Marino
Gonadal and extragonadal pediatric germ cell tumors (GCTs) are rare neoplasms with different clinical behavior. Although surgery and cisplatin-based chemotherapy are resolutive in most cases, some patients do not respond to chemotherapy and have a worse outcome. Microsatellite instability (MSI) was correlated to resistance to chemotherapy and sensitivity to immunotherapy in different neoplasms. A series of 21 pediatric GCTs were tested by immuno-histochemistry and PCR to evaluate MSI status. Next generation sequencing was applied to further evaluate cases with discordant results between immunohistochemistry and PCR...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37662625/carrier-screening-programs-for-rare-diseases-in-developed-countries-and-the-case-of-turkey-a-systematic-review
#24
REVIEW
Çağlar Fidan, Recep Akdur, Çiğdem Naz Ünver, Ömer Can Şahin, Aslı Begüm Alper, Ali Ayhan
Effective control of rare diseases requires health programs based on principles of protection and prevention. Carrier screening programs serve as preventive measures by identifying at-risk groups. This review examines the impact, implementation, advantages, and disadvantages of carrier screening, incorporating examples from ten countries: the United States, Canada, the United Kingdom, Israel, China, Australia, Italy, Germany, the Netherlands, and Turkey. Data on carrier screening and related policies were collected from July to November 2022 and presented in a tabular format using a coding system devised by the authors...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37662624/diagnosis-treatment-and-research-status-of-rare-diseases-related-to-birth-defects
#25
REVIEW
Hongjuan Zhao, Chen Du, Guang Yang, Yu Wang
Rare diseases are diseases that occur at low prevalence, and most of them are chronic and serious diseases that are often life-threatening. Currently, there is no unified definition for rare diseases. The diagnosis, treatment, and research of rare diseases have become the focus of medicine and biopharmacology, as well as the breakthrough point of clinical and basic research. Birth defects are the hard-hit area of rare diseases and the frontiers of its research. Since most of these defects have a genetic basis, early screening and diagnosis have important scientific value and social significance for the prevention and control of such diseases...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37662623/re-survey-of-16-japanese-patients-with-advanced-stage-hereditary-motor-sensory-neuropathy-with-proximal-dominant-involvement-hmsn-p-painful-muscle-cramps-for-early-diagnosis
#26
JOURNAL ARTICLE
Hiroshi Shoji, Ryosuke Sakamoto, Chisato Saito, Kozo Akino, Masahiko Taniguchi
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an intractable neurological disease with autosomal dominant inheritance, four-limb weakness, sensory impairment, and a slowly progressive course. HMSN-P patients develop four-limb paralysis at the advanced-stage, as in amyotrophic lateral sclerosis (ALS). There is a natural 20- to 30-year course from initial painful muscle cramps and four-limb paralysis to respiratory dysfunction. A delay in the diagnosis of HMSN-P occurs due to the 20- to 30-year span from the initial symptom(s) to typical quadriplegia...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37662622/ortner-s-syndrome-a-systematic-review-of-presentation-diagnosis-and-management
#27
REVIEW
Sameer Verma, Ankoor Talwar, Abhinav Talwar, Sarah Khan, Kambhampaty Venkata Krishnasastry, Arunabh Talwar
Ortner's syndrome (OS), also called cardiovocal syndrome, is a rare condition hallmarked by left recurrent laryngeal nerve palsy due to underlying cardiopulmonary disease. The purpose of this review is to systemically analyze the existing literature for cases of OS to outline typical presentation, methods of diagnosis, and management of these patients. Case reports, case series, and cohort studies describing OS between 1955 and 2021 were identified. Individual manuscripts were reviewed for clinical features, presentation, and management...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37662621/the-novel-role-of-ifitm1-3-in-myogenic-differentiation-of-c2c12-cells
#28
JOURNAL ARTICLE
Yongtao Zhang, Yanqin Lu, Xianxian Li, Shanshan Zhang, Pengchao Liu, Xiaoyang Hao, Jinxiang Han
Interferon-induced transmembrane proteins (IFITMs 1, 2, and 3) play a critical role in preventing pathogen infection in vertebrates. They are also involved in the occurrence and prognosis of cancer. Myogenesis is a complex process regulated by several factors. This study disclosed that Ifitm1-3 were upregulated in the process of myogenic differentiation of C2C12 myoblasts on days 3, 5, and 7. This positively correlated with the expression of differentiation factors MyoD, myogenin, Mrf5, and desmin. Furthermore, knockdown of Ifitm1-3 by their individual siRNAs inhibited myogenesis of C2C12 myoblasts, with relative downregulation of MyoD, myogenin, Mrf5, and desmin...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37662620/analysis-of-marketed-orphan-drugs-in-china
#29
REVIEW
Wei Zhi, Meilin Liu, Dan Yang, Shanshan Zhang, Yanqin Lu, Jinxiang Han
In recent years, China has increased attention on the issue of rare diseases, and the government has promulgated rare disease-related policies to gradually improve rare disease diagnosis, treatment, drug marketing, and patient burden. Orphan drugs were added to the medical insurance directory in 7 batches, of which 22 drugs were first included in the 2004 medical insurance directory and 8, 16, 12, 7, 8, and 7 were included in the 2009, 2017, 2019, 2020, 2021, and 2022 versions, respectively. Currently, 106 orphan drugs are marketed in China, which are suitable for treating 53 rare diseases such as hematologic diseases, congenital metabolism disorders, neuropathies, and digestive system diseases and for other treatment fields...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37662619/-pik3ca-mutations-in-cutaneous-squamous-cell-carcinoma
#30
JOURNAL ARTICLE
Yudo Kusaba, Ikko Kajihara, Ryoko Sakamoto, Saki Maeda-Otsuka, Saori Yamada-Kanazawa, Soichiro Sawamura, Katsunari Makino, Jun Aoi, Shinichi Masuguchi, Satoshi Fukushima
Oncogenic PIK3CA mutation activates phosphoinositide 3-kinase (PI3K) enzyme, and PI3K-AKT signaling activation induces several growth-regulatory transcription factors. PIK3CA mutations have attracted attention as biomarker in clinical trials of various inhibitors including PI3K inhibitors. About 80% of PIK3CA mutations in human cancers are observed in 'hot spot' regions: exon 9 (E542K and E545K) and exon 20 (H1047R). There were few reports about clinical significance of PIK3CA mutations in cutaneous cell carcinoma (cSCC)...
August 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287660/trust-in-physicians-and-definitive-diagnosis-time-among-japanese-patients-with-specific-intractable-diseases-a-cross-sectional-study
#31
JOURNAL ARTICLE
Hiroyuki Tanaka, Mikiko Shimaoka
Trust in physicians is an important metric in shared decision-making. Many patients with rare diseases experience misdiagnosis or delayed diagnosis because of difficulties in diagnosis or access to specialists. What impact do these have on trust in physicians? This study focused on patients with rare diseases, evaluated the effects of a delayed diagnosis and misdiagnosis on trust in physicians, and clarified the backgrounds of patients who have experienced delayed diagnoses. Patients with any of the 334 intractable diseases in Japan were registered, and a questionnaire survey was conducted on 1,000 valid registrations...
May 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287659/pseudoxanthoma-elasticum-is-associated-with-cardiocirculatory-inefficiency
#32
JOURNAL ARTICLE
Carmen Pizarro, Max Jonathan Stumpf, Luisa Staberock, Christian Alexander Schaefer, Nadjib Schahab, Georg Nickenig, Dirk Skowasch
Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease characterized by dystrophic calcification of elastic fibres in the skin, retina and vascular wall. Data on cardiac involvement are inconsistent. Hence, we aimed to evaluate cardiorespiratory response to incremental cardiopulmonary exercise testing (CPET) in PXE. A total of 30 PXE patients (54.0 ± 11.2 years, 40.0% male) and 15 matched controls underwent symptom-limited incremental CPET. PXE patients presented an impaired peak work rate as compared to controls (84...
May 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287658/evaluation-of-the-efficacy-and-safety-of-pegloticase-for-the-treatment-of-chronic-refractory-gout-through-meta-analysis
#33
JOURNAL ARTICLE
Tianci Fan, Yifan Wang, Tongqing Song, Yan Sun
Gout is the most common arthritis that affects more than 2% of adults in developed countries. 3% to 4% of gout is chronic refractory gout. Conventional treatments are considered invalid. A new drug, pegloticase is used to treat chronic refractory gout, and there are still many questions about efficacy and safety. We searched PubMed, web of science, and the Cochrane Library. Preprints and references of related literature were also considered. Related efficacy and safety indicators were statistically analyzed by Review Manager 5...
May 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287657/health-related-quality-of-life-hrqol-and-psychological-impact-of-the-covid-19-pandemic-on-patients-with-myasthenia-gravis
#34
JOURNAL ARTICLE
Irune García, Oscar Martínez, Juan Francisco López-Paz, Monika Salgueiro, Alicia Aurora Rodríguez, Janire Zorita, Maddalen García-Sanchoyerto, Imanol Amayra
The aim of this study was to compare the effects of the pandemic on health-related quality of life (HRQoL), anxious-depressive symptoms, feelings of loneliness, and fear of COVID-19 between people with myasthenia gravis (MG) and healthy controls. We also wanted to know in which group the variable fear of COVID-19 interfered the most with the results. This cross-sectional study involved 60 people with MG and 60 healthy controls. Participants using an online platform completed a sociodemographic questionnaire, the Short Form-36 Health Survey (SF-36), the Hospital Anxiety and Depression Scale (HADS), the revised UCLA Loneliness Scale and the Fear of COVID19 Scale (FCV- 19S)...
May 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287656/autoantibodies-clinical-phenotypes-and-quality-of-life-in-lebanese-patients-with-myasthenia-gravis
#35
JOURNAL ARTICLE
Jihan Baalbaki, Mohammad Agha, Nisrin Jaafar, Bassem Yamout, Salim Moussa
Myasthenia gravis (MG) is a rare autoimmune disease that affects the neuromuscular junction. It is characterized by the production of heterogeneous autoantibodies that bind to the neuromuscular junction and alter neural transmission. Recently, more attention was given to MG-related antibodies and their clinical influence. In Lebanon, studies about MG are very rare. To date, there is still no research on the different autoantibodies developed by Lebanese MG patients. We conducted a study aimed at detecting the prevalence of different antibodies in a group of seventeen Lebanese patients with MG, and exploring their associations with clinical phenotypes and quality of life (QOL)...
May 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287655/a-very-rare-cause-of-leukoencephalopathy-lymphomatosis-cerebri
#36
JOURNAL ARTICLE
Maurizio Giorelli, Sergio Altomare, Maria Stella Aniello, Maria Carmela Bruno, Ruggiero Leone, Daniele Liuzzi, Giuseppe Ingravallo, Pasquale Di Fazio, Tommaso Scarabino, Giuseppe Tarantini
Leukoencephalopathy is a common finding on Magnetic Resonance Imaging (MRI), particularly in the elderly. A differential diagnosis may represent a very bet for clinicians when clear elements for diagnosis are lacking. Diffuse infiltrative "non mass like" leukoencephalopathy on MRI may represent the presentation of a very rare aggressive condition known as lymphomatosis cerebri (LC). The lack of orienting data, such as contrast enhancement on MRI or specific findings on examination of Cerebrospinal Fluid (CSF) or blood tests, may even far more complicate such a difficult diagnosis and orientate toward a less aggressive but time-losing mimic...
May 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287654/urogenital-sinus-malformation-from-development-to-management
#37
REVIEW
Yu Ding, Yaping Wang, Yiqing Lyu, Hua Xie, Yichen Huang, Min Wu, Fang Chen, Zhongzhong Chen
Urogenital sinus (UGS) malformation, also known as persistent urogenital sinus (PUGS), is a rare congenital malformation of the urogenital system. It arises when the urethra and vaginal opening fail to form properly in the vulva and fuse incorrectly. PUGS can occur as an isolated abnormality or as part of a complex syndrome, and is frequently associated with congenital adrenal hyperplasia (CAH). The management of PUGS is not well-established, and there are no standardized guidelines on when to perform surgery or how to follow up with patients over the long term...
May 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287653/genetic-diagnostic-approach-to-intellectual-disability-and-multiple-congenital-anomalies-in-indonesia
#38
JOURNAL ARTICLE
Nydia Rena Benita Sihombing, Tri Indah Winarni, Nicole de Leeuw, Bregje van Bon, Hans van Bokhoven, Sultana Mh Faradz
Intellectual disability (ID) and multiple congenital anomalies (MCA) are major contributors to infant mortality, childhood morbidity, and long-term disability, with multifactorial aetiology including genetics. We aim to set a diagnostic approach for genetic evaluation of patients with ID and MCA, which can be applied efficiently with a good diagnostic rate in Indonesia or other low resources settings. Out of 131 ID cases, twenty-three individuals with ID/global developmental delay (GDD) and MCA were selected from two-steps of dysmorphology screening and evaluation...
May 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287652/molecular-genetics-and-general-management-of-androgen-insensitivity-syndrome
#39
REVIEW
Zhongzhong Chen, Pin Li, Yiqing Lyu, Yaping Wang, Kexin Gao, Jing Wang, Fuying Lan, Fang Chen
Androgen insensitivity syndrome (AIS) is a rare genetic disorder that affects the development of the male reproductive system in individuals with a 46,XY karyotype. In addition to physical impacts, patients with AIS may face psychological distress and social challenges related to gender identity and acceptance. The major molecular etiology of AIS results from hormone resistance caused by mutations in the X-linked androgen receptor ( AR ) gene. Depending on the severity of androgen resistance, the wide spectrum of AIS can be divided into complete AIS (CAIS), partial AIS (PAIS), or mild AIS (MAIS)...
May 2023: Intractable & Rare Diseases Research
https://read.qxmd.com/read/37287651/end-stage-renal-disease-due-to-retroperitoneal-fibrosis-in-neurofibromatosis-type-i
#40
JOURNAL ARTICLE
Luis Guilherme Ramanzini, Luís Fernando Muniz Camargo, Thaís Lorrany Oliveira Caixeta, Rafael Cardoso Louzada, Julia Maria Frare
Retroperitoneal fibrosis (RF) commonly leads to renal impairment due to compression of ureters, and around 8% of patients eventually progress to end-stage renal disease (ESRD). We present a case of RF in a 61-year-old female patient with neurofibromatosis type 1 (NF1) who developed ESRD. She presented with a postrenal acute kidney injury, being initially treated with an ureteral catheter. A magnetic resonance imaging of the abdomen showed parietal thickening of the right ureter, and she underwent right ureter reimplantation through bladder flap and psoas hitch...
May 2023: Intractable & Rare Diseases Research
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