World J Surg Oncol. 2022 May 4;20(1):143. doi: 10.1186/s12957-022-02607-0.

ABSTRACT

BACKGROUND: Esophageal adenosquamous carcinoma (EASC) is a rare disease. The biological behavior and treatment of this malignancy are not well studied.

METHODS: Data from 56 patients with EASC who underwent esophagectomy were retrospectively analyzed and compared with 5028 patients with esophageal squamous cell carcinoma (ESCC). The impact of clinicopathological factors on the survival of patients with EASC was analyzed. The survival differences between patients with EASC and ESCC were also compared.

RESULTS: There were 43 males and 13 females with a mean age of 59.7 ± 1.3 years (range, 39-79 years). Only 1 of the 43 patients who received preoperative esophagoscopic biopsy was diagnosed with EASC. The median survival time for patients with EASC was 32.0 months, and the 1-, 3-, and 5-year overall survival rates were 78.3%, 46.1%, and 29.6%, respectively. Resection margin, pN category, and adjuvant chemotherapy were found to be independent predictors. After 1:1 propensity score matching, the 5-year overall survival rate of 29.6% for patients with EASC was similar to that of 42.5% for patients with ESCC (P = 0.179).

CONCLUSIONS: EASC is a rare disease and is easily misdiagnosed by esophagoscopic biopsy. The prognosis of EASC was similar to that of ESCC. Postoperative adjuvant chemotherapy may improve the survival of patients with EASC after esophagectomy.

PMID:35509082 | DOI:10.1186/s12957-022-02607-0

Br J Hosp Med (Lond). 2022 Apr 2;83(4):1. doi: 10.12968/hmed.2021.0532. Epub 2022 Apr 6.

NO ABSTRACT

PMID:35506726 | DOI:10.12968/hmed.2021.0532

Orphanet J Rare Dis. 2022 May 3;17(1):178. doi: 10.1186/s13023-022-02320-x.

ABSTRACT

BACKGROUND: Cushing's syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based guidelines on thromboprophylaxis strategies in patients with CS are currently lacking. We aimed to map the current clinical practice for thromboprophylaxis management in patients with CS across reference centers (RCs) of the European Reference Network on Rare Endocrine Conditions (Endo-ERN), which are endorsed specifically for the diagnosis and treatment of CS. Using the EU survey tool, a primary screening survey, and subsequently a secondary, more in-depth survey were developed.

RESULTS: The majority of the RCs provided thromboprophylaxis to patients with CS (n = 23/25), although only one center had a standardized thromboprophylaxis protocol (n = 1/23). RCs most frequently started thromboprophylaxis from CS diagnosis onwards (n = 11/23), and the majority stopped thromboprophylaxis based on individual patient characteristics, rather than standardized treatment duration (n = 15/23). Factors influencing the initiation of thromboprophylaxis were 'medical history of VTE' (n = 15/23) and 'severity of hypercortisolism' (n = 15/23). Low-Molecular-Weight-Heparin was selected as the first-choice anticoagulant drug for thromboprophylaxis by all RCs (n = 23/23). Postoperatively, the majority of RCs reported 'severe immobilization' as an indication to start thromboprophylaxis in patients with CS (n = 15/25). Most RCs (n = 19/25) did not provide standardized testing for variables of hemostasis in the postoperative care of CS. Furthermore, the majority of the RCs provided preoperative medical treatment to patients with CS (n = 23/25). About half of these RCs (n = 12/23) took a previous VTE into account when starting preoperative medical treatment, and about two-thirds (n = 15/23) included 'reduction of VTE risk' as a goal of treatment.

CONCLUSIONS: There is a large practice variation regarding thromboprophylaxis management and perioperative medical treatment in patients with CS, even in Endo-ERN RCs. Randomized controlled trials are needed to establish the optimal prophylactic anticoagulant regimen, carefully balancing the increased risk of (perioperative) bleeding, and the presence of additional risk factors for thrombosis.

PMID:35505430 | DOI:10.1186/s13023-022-02320-x

Adv Exp Med Biol. 2022;1372:189-213. doi: 10.1007/978-981-19-0394-6_13.

ABSTRACT

Sphingolipidoses is a cluster of genetic rare disorders regarding glycosphingolipid metabolism, classified as lysosomal storage disorders (LSD). Here, we focus on eight inheritable diseases, including GM1 gangliosidosis, GM2 gangliosidosis, Fabry disease, Gaucher's disease, metachromatic leukodystrophy, Krabbe disease, Niemann-Pick disease A and B, and Farber disease. Mostly, pathogenic mutations in the key enzyme are loss-function, resulting in accumulation of substrates and deficiency of products. Thus, cellular overload of substrates causes lipotoxicity, which is deleterious to cellular and organ function. In the terms of clinical manifestations in sphingolipidoses, multiple systems and organs, especially central nervous system (CNS) are usually affected. As for diagnosis strategy, enzymatic activity assay and genetic sequencing are helpful. Up till now, limited treatment approaches have approved for treating sphingolipidoses, with some potential strategies for further evaluation. In general, enzyme replacement therapy (ERT), substrate reduction therapy (SRT), and molecular chaperones are feasible choices for enzyme deficiency disorders, but these therapies are limited to relieve CNS lesions and symptoms due to prevention from blood-brain barrier. Other possible treatments such as gene therapy, bone marrow transplantation (BMT), and hematopoietic stem cell transplantation (HSCT) need further evaluation.

PMID:35503182 | DOI:10.1007/978-981-19-0394-6_13

Front Oncol. 2022 Apr 14;12:840783. doi: 10.3389/fonc.2022.840783. eCollection 2022.

ABSTRACT

Small cell lung cancer (SCLC) represents about 13%-15% of all lung cancers. It has a particularly unfavorable prognosis and in about 70% of cases occurs in the advanced stage (extended disease). Three phase III studies tested the combination of immunotherapy (atezolizumab, durvalumab with or without tremelimumab, and pembrolizumab) with double platinum chemotherapy, with practice-changing results. However, despite the high tumor mutational load and the chronic pro-inflammatory state induced by prolonged exposure to cigarette smoke, the benefit observed with immunotherapy is very modest and most patients experience disease recurrence. Unfortunately, biological, clinical, or molecular factors that can predict this risk have not yet been identified. Thanks to these clinically meaningful steps forward, SCLC is no longer considered an "orphan" disease. Innovative treatment strategies and combinations are currently under investigation to further improve the expected prognosis of patients with SCLC. Following the recent therapeutic innovations, we have reviewed the available literature data about SCLC management, with a focus on current unmet needs and potential predictive factors. In detail, the role of radiotherapy; fragile populations, such as elderly or low-performance status patients (ECOG PS 2), usually excluded from randomized studies; predictive factors of response useful to optimize and guide therapeutic choices; and new molecular targets and future combinations have been explored and revised.

PMID:35494084 | PMC:PMC9047718 | DOI:10.3389/fonc.2022.840783

Zhonghua Nei Ke Za Zhi. 2022 May 1;61(5):578-583. doi: 10.3760/cma.j.cn112138-20220224-00140.

NO ABSTRACT

PMID:35488613 | DOI:10.3760/cma.j.cn112138-20220224-00140

Schmerz. 2022 Jun;36(3):213-224. doi: 10.1007/s00482-022-00643-z. Epub 2022 Apr 29.

ABSTRACT

Myalgia describes pain in the skeletal muscles. According to the current German clinical guidelines from 2020 (AWMF register number: 030/051), the initial diagnostic assessment consists of the anamnesis, clinical examination, electrophysiological examination and standard laboratory tests. Additional special examinations, such as molecular genetic investigations, special laboratory tests, medical imaging and muscle biopsy are only needed in certain cases. This article focuses on rare neurological diseases that are classically associated with myalgia. In this context etiologically different diseases are considered, whereby some genetically linked diseases (fascioscapulohumeral dystrophy, FSHD, dystrophia myotonica, McArdle's disease, Pompe's disease, limb girdle muscular dystrophy) are contrasted with diseases with an (auto)immune-related pathogenesis (stiff-person syndrome, Isaacs syndrome). The aspects relevant for the diagnosis are particularly highlighted. The therapeutic aspects of the diseases are not part of this article.

PMID:35486202 | DOI:10.1007/s00482-022-00643-z

BMC Pediatr. 2022 Apr 29;22(1):233. doi: 10.1186/s12887-022-03291-5.

ABSTRACT

BACKGROUND: Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation.

CASE PRESENTATION: We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenomegaly, recurrent infection, metabolic acidosis, and acute hemolytic crisis. Extensive hematologic and immunologic investigations did not identify inherited bone marrow failure syndrome, acute leukemia or its related disorders. Whole exome sequencing identified a novel homozygous TCN2 mutation, c.428-2A > G and mRNA study confirmed an aberrant transcription of exon 4 skipping. The mutant protein is predicted to have an in-fame 51 amino acids deletion (NP_000346:p.Gly143_Val193del). The patient exhibited marked clinical improvement following hydroxocobalamin treatment.

CONCLUSIONS: Transcobalamin deficiency should be investigated in infants with unexplained pancytopenia and acute hemolytic crisis with or without typical evidence of vitamin B12 deficiency.

PMID:35488219 | PMC:PMC9052601 | DOI:10.1186/s12887-022-03291-5

Hamostaseologie. 2022 Apr;42(2):117-122. doi: 10.1055/a-1790-6156. Epub 2022 Apr 29.

ABSTRACT

Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder caused by various underlying diseases or conditions and should be distinguished from the inherited type of von Willebrand disease. AVWS is associated with underlying diseases such as cardiovascular, autoimmune, malignant, proliferative disorders, or with mechanical circulatory support (MCS). AVWS was first reported in 1968 and most case reports describe AVWS in adults. However, AVWS can appear in pediatric patients occasionally as well. Because bleeding complications are rare in everyday life, AVWS may be underdiagnosed in pediatric patients. Therefore, the diagnosis should be suspected in a pediatric patient who is known for one of these underlying diseases or conditions and who presents with an onset of bleeding symptoms, especially before the child will undergo an invasive procedure. Here, we present an overview of the diagnostic analyses regarding AVWS and of the underlying diseases or conditions in which AVWS should be considered. Importantly, the patient's history should be investigated for bleeding symptoms (mucocutaneous or postoperative bleeding). As no single routine coagulation test can reliably confirm or exclude AVWS, the diagnosis may be challenging. Laboratory investigations should include analysis of von Willebrand factor (VWF):antigen, VWF:collagen-binding capacity, VWF:activity, and VWF multimeric analyses. For treatment, tranexamic acid, 1-desamino-8-D-arginine vasopressin, and VWF-containing concentrate can be used. AVWS disappears after the underlying disease has been successfully treated or the MCS has been explanted.

PMID:35488164 | DOI:10.1055/a-1790-6156

Sante Publique. 2021 Oct 28;Vol. 33(3):309-310. doi: 10.3917/spub.213.0309.

NO ABSTRACT

PMID:35485078 | DOI:10.3917/spub.213.0309

Ther Innov Regul Sci. 2022 Jul;56(4):659-666. doi: 10.1007/s43441-022-00404-1. Epub 2022 Apr 27.

ABSTRACT

BACKGROUND: High-quality evidence is often not obtained in the clinical trials of rare diseases because these trials tend to be smaller in size and non-controlled. We investigated the potential factors associated with the need for randomized controlled trials (RCTs) in the clinical data package for new drug applications for rare diseases in Japan.

METHODS: This study focused on 130 drugs with orphan drug designation approved in Japan between April 2004 and March 2020.

RESULTS: Multivariable regression analysis showed that the prevalence (odds ratio [OR] 3.21, 95% confidence interval [CI] 1.18-8.6) and the type of primary endpoint (OR 6.66, 95% CI 2.41-18.37) were associated with the need for RCTs in the clinical data package in Japan.

CONCLUSIONS: Our findings highlight the importance of adequate understanding of the target disease in new drug development for rare diseases.

PMID:35478399 | DOI:10.1007/s43441-022-00404-1

J Med Case Rep. 2022 Apr 28;16(1):176. doi: 10.1186/s13256-022-03359-x.

ABSTRACT

BACKGROUND: Mandible can be the site of benign or malignant lesions of different origins, including odontogenic and non-odontogenic lesions. Cartilage-forming tumors have been rarely reported at this site. Chondrosarcoma is a rare malignant cartilage-producing neoplasm that is extremely rare in the mandible. The rarity of cartilage-forming tumor occurrence in the mandible can make diagnosis difficult for pathologists, as they do not expect this type of tumor at this anatomical site. Here we report a case of chondrosarcoma of mandibular angle.

CASE PRESENTATION: A 70-year-old Moroccan male patient consulted a dentist for wisdom tooth pain. Wisdom tooth extraction was conducted. After 6 months, the patient reported the recurrence of pain associated with swelling in the mandibular area and paresthesia along the path of the mandibular nerve. A panoramic radiograph demonstrated a mixed radiolucent-opaque lesion involving the mandibular angle. Computed tomography showed a large osteolytic spontaneously hypointense and multilobulated lesion. A biopsy was done. Histopathological examination revealed sheets and irregular lobules of atypical cells presenting cartilaginous differentiation. Tumor cells showed severe nuclear atypia and were located within a hyaline cartilage matrix. Some foci of necrosis were noted. Osteoid deposits were not found. The patient was diagnosed with grade III chondrosarcoma and underwent a right segmental mandibulectomy with submandibular lymph node dissection. Macroscopically, the tumor was localized in the mandibular angle with extension in the mandibular body. Histopathology confirmed the previous diagnosis of grade III chondrosarcoma and did not show any lymph node metastasis.

CONCLUSIONS: Owing to many histological similarities, grade III chondrosarcoma must be distinguished from chondroblastic osteosarcoma and metastatic lesions. In addition, chondroblastic osteosarcoma of the jawbones has a worse prognosis than chondrosarcoma, making the distinction between these two malignant tumors the most important concern of the pathologist when dealing with a cartilage-forming tumor at this site. Surgery with wide excision margins remains the best therapeutic approach, while the role of radiotherapy is controversial. The management of mandibular chondrosarcoma requires a multidisciplinary approach involving maxillofacial surgeons, radiologists, pathologists, and oncologists.

PMID:35484609 | PMC:PMC9047383 | DOI:10.1186/s13256-022-03359-x

PLoS One. 2022 Apr 28;17(4):e0247286. doi: 10.1371/journal.pone.0247286. eCollection 2022.

ABSTRACT

Rare disease clinical trials are constrained to small sample sizes and may lack placebo-control, leading to challenges in drug development. This paper proposes a Bayesian model-based framework for early go/no-go decision making in rare disease drug development, using Duchenne muscular dystrophy (DMD) as an example. Early go/no-go decisions were based on projections of long-term functional outcomes from a Bayesian model-based analysis of short-term trial data informed by prior knowledge based on 6MWT natural history literature data in DMD patients. Frequentist hypothesis tests were also applied as a reference analysis method. A number of combinations of hypothetical trial designs, drug effects and cohort comparison methods were assessed. The proposed Bayesian model-based framework was superior to the frequentist method for making go/no-go decisions across all trial designs and cohort comparison methods in DMD. The average decision accuracy rates across all trial designs for the Bayesian and frequentist analysis methods were 45.8 and 8.98%, respectively. A decision accuracy rate of at least 50% was achieved for 42 and 7% of the trial designs under the Bayesian and frequentist analysis methods, respectively. The frequentist method was limited to the short-term trial data only, while the Bayesian methods were informed with both the short-term data and prior information. The specific results of the DMD case study were limited due to incomplete specification of individual-specific covariates in the natural history literature data and should be reevaluated using a full natural history dataset. These limitations aside, the framework presented provides a proof of concept for the utility of Bayesian model-based methods for decision making in rare disease trials.

PMID:35482633 | PMC:PMC9049549 | DOI:10.1371/journal.pone.0247286

Lancet Neurol. 2022 Apr 25:S1474-4422(22)00035-7. doi: 10.1016/S1474-4422(22)00035-7. Online ahead of print.

ABSTRACT

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. It is characterised by early-onset (generally within the first 2 months of life) seizures that are usually refractory to polypharmacy. Development is severely impaired in patients with CDD, with only a quarter of girls and a smaller proportion of boys achieving independent walking; however, there is clinical variability, which is probably genetically determined. Gastrointestinal, sleep, and musculoskeletal problems are common in CDD, as in other developmental epileptic encephalopathies, but the prevalence of cerebral visual impairment appears higher in CDD. Clinicians diagnosing infants with CDD need to be familiar with the complexities of this disorder to provide appropriate counselling to the patients' families. Despite some benefit from ketogenic diets and vagal nerve stimulation, there has been little evidence that conventional antiseizure medications or their combinations are helpful in CDD, but further treatment trials are finally underway.

PMID:35483386 | DOI:10.1016/S1474-4422(22)00035-7

Mov Disord. 2022 Apr 28. doi: 10.1002/mds.28982. Online ahead of print.

ABSTRACT

In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed monogenic movement disorders. Since then, a substantial number of novel disease-causing genes have been described, which warrant classification using this system. In addition, with this update, we further refined the system and propose dissolving the imaging-based categories of Primary Familial Brain Calcification and Neurodegeneration with Brain Iron Accumulation and reclassifying these genetic conditions according to their predominant phenotype. We also introduce the novel category of Mixed Movement Disorders (MxMD), which includes conditions linked to multiple equally prominent movement disorder phenotypes. In this article, we present updated lists of newly confirmed monogenic causes of movement disorders. We found a total of 89 different newly identified genes that warrant a prefix based on our criteria; 6 genes for parkinsonism, 21 for dystonia, 38 for dominant and recessive ataxia, 5 for chorea, 7 for myoclonus, 13 for spastic paraplegia, 3 for paroxysmal movement disorders, and 6 for mixed movement disorder phenotypes; 10 genes were linked to combined phenotypes and have been assigned two new prefixes. The updated lists represent a resource for clinicians and researchers alike and they have also been published on the website of the Task Force for the Nomenclature of Genetic Movement Disorders on the homepage of the International Parkinson and Movement Disorder Society (https://www.movementdisorders.org/MDS/About/Committees--Other-Groups/MDS-Task-Forces/Task-Force-on-Nomenclature-in-Movement-Disorders.htm). © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.

PMID:35481685 | DOI:10.1002/mds.28982

Sci Rep. 2022 Apr 26;12(1):6795. doi: 10.1038/s41598-022-10269-x.

ABSTRACT

Clinical diagnoses of slow, progressive, painless visual losses with various degrees of visual field (VF) losses and disc atrophy are often confused between suprasellar compressive optic neuropathy (CON) and open-angle glaucomatous optic neuropathy (GON). We plotted the thickness of the peripapillary retinal nerve fiber layer (RNFL) and macular ganglion cell-inner plexiform layer (GCIPL) against the mean deviation (MD) of the VF of 34 eyes of CON at diagnosis, 30 eyes of CON after therapy, 29 eyes of GON, and 60 eyes of healthy controls in a cross-sectional investigation. At diagnosis, a disproportionally early pattern of structural thinning compared with the corresponding VF losses was unique to CON. GON- and CON-specific thinning parameters were generally useful in differentiating GON and CON from moderate to severe MD losses, but early MD losses (0 to - 6 dB) overlapped with GON in a CON-stage specific manner. GON-specific thinning parameters, RNFL in the inferior sector, and inferior to temporal macular GCIPL ratio showed overlap with posttreatment CON in the early MD losses with AUCs of 0.916 (95% CI 0.860-0.971; P < 0.001) and 0.890 (95% CI 0.811-0.968; P < 0.001), respectively. In comparison, CON-specific thinning parameters, superonasal, and inferonasal GCIPL showed overlap with CON at diagnosis for early MD losses. Overall, the nasal-to-temporal macular GCIPL ratio showed good discrimination between CON and GON throughout the MD range, with an AUC of 0.923 (95% CI 0.870-0.976; P < 0.001). Comparing GON with all stages of CON, the cut-point of 0.95 showed the lower nasal-to-temporal GCIPL ratio had a sensitivity of 72% and specificity of 90% for CON. However, the cut-point of 1.10 showed the superior-to-inferior GCIPL ratio had a sensitivity of 60% and specificity of 98% for GON.

PMID:35474078 | DOI:10.1038/s41598-022-10269-x

BMC Neurol. 2022 Apr 25;22(1):155. doi: 10.1186/s12883-022-02639-9.

ABSTRACT

BACKGROUND: In this case, we reported the pseudobulbar affect (PBA) in a patient with Susac's syndrome-a rare condition that was caused by a rare syndrome. Previous case reports of Susac syndrome described psychiatric symptoms such as emotional disturbances or personality changes. Only a few case reports have reported psychiatric disorders in patients with Susac's syndrome. There were no reported cases of Susac syndrome with PBA as an initial presentation.

CASE PRESENTATION: Our patient was 56 years old and presented with involuntary crying, left-sided headache, left-sided hearing loss, and tinnitus. Brain MRI showed numerous areas of restricted diffusion and enhancement involving the corpus callosum, bilateral hemispheres, and brainstem. Ophthalmological evaluation showed bilateral branch retinal artery occlusion. She was diagnosed with Susac's syndrome and PBA. She was treated with cyclophosphamide and dextromethorphan hydrobromide/quinidine sulfate with excellent recovery. This is a 2-year clinical course.

DISCUSSION AND CONCLUSIONS: Recognition of the clinical presentation of Susac's syndrome and PBA with early diagnosis and treatment are the keys to preventing further disability and impact on patients and their families.

PMID:35468771 | DOI:10.1186/s12883-022-02639-9

J Ayub Med Coll Abbottabad. 2022 Jan-Mar;34(1):216-219. doi: 10.55519/JAMC-01-10336.

ABSTRACT

Pycnodysostosis is a rare disease with very few reported cased all over the world. It was first described in 1963 by Maroteaux and Lamy. It is also known as Toulouse-Lautrec syndrome, after a French artist, Henri de Toulouse Lautrec. The affected gene, CTSK, was first isolated in 1996. It is an autosomal recessive osteochondrodysplasia, characterized by disrupted function of osteoclasts. Incidence of this disease is 1.7 per 1 million births with a male to female ratio of 1:1 30% cases arise from consanguineous marriages.

PMID:35466658 | DOI:10.55519/JAMC-01-10336

Front Immunol. 2022 Mar 30;13:864449. doi: 10.3389/fimmu.2022.864449. eCollection 2022.

ABSTRACT

BACKGROUND: Comèl-Netherton syndrome (NS) is a rare disease caused by pathogenic variants in the SPINK5 gene, leading to severe skin barrier impairment and proinflammatory upregulation. Given the severity of the disease, treatment of NS is challenging. Current treatment regimens are mainly topical and supportive. Although novel systemic treatment options for NS have been suggested in recent literature, little is known about their outcomes.

OBJECTIVE: to provide an overview of systemic treatment options and their outcomes in adults and children with NS.

METHODS: Embase, MEDLINE, Web of Science, Cochrane Central Register of Controlled Trials, and Google Scholar were searched up to July 22, 2021. Empirical studies published in English language mentioning systemic treatment in NS were enrolled. Studies that did not define a treatment period or report at least one outcome were excluded. Methodological quality was evaluated by the Joanna Briggs Institute critical appraisal checklist for case reports or case series. Overall quality of evidence of the primary outcome, skin, was assessed by the GRADE approach.

RESULTS: 36 case series and case reports were included. The effects of 15 systemic therapies were described in 48 patients, of which 27 were children. Therapies included retinoids, prednisolone, cyclosporine, immunoglobulins, and biologicals. In retinoids both worsening (4/15 cases) and improvement (6/15 cases) of the skin was observed. Use of prednisolone and cyclosporine was only reported in one patient. Immunoglobulins (13/15 cases) and biologicals (18/21 cases) showed improvement of the skin. Certainty of evidence was rated as very low.

CONCLUSION: NS is a rare disease, which is reflected in the scarce literature on systemic treatment outcomes in children and adults with NS. Studies showed large heterogeneity in outcome measures. Adverse events were scarcely reported. Long-term outcomes were reported in a minority of cases. Nonetheless, a general beneficial effect of systemic treatment was found. Immunoglobulins and biologicals showed the most promising results and should be further explored. Future research should focus on determining a core outcome set and measurement instruments for NS to improve quality of research.

SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=217933, PROSPERO (ID: 217933).

PMID:35464459 | PMC:PMC9022473 | DOI:10.3389/fimmu.2022.864449

Front Public Health. 2022 Apr 8;10:872648. doi: 10.3389/fpubh.2022.872648. eCollection 2022.

ABSTRACT

Although national plans or strategies for rare diseases (RDs) have been implemented in many jurisdictions research show that one of the main barriers RD patients face during medical encounter is medical professionals' low level of knowledge and experience on the diagnosis, treatment and rehabilitation of RD patients. Consequently, there is a need to increase the standards of medical education in the field of RDs and to revise the undergraduate and postgraduate training programs. However, while studies on medical education in the field of RDs has been conducted in various countries across the both Americas, Asia or the European Union, still little is known about the awareness of RDs among healthcare professionals in the Republic of Kazakhstan. Thus, we conducted a survey among 207 medical students and 101 medical doctors from the West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan. The study was conducted between March and May 2021. The questionnaire assessed their knowledge about the number, examples, etiology and estimated frequency of RDs. It also evaluated respondents self-assessment of competence in RDs. Although the majority of respondents agreed that RDs constitute a serious public health issue both medical students and medical doctors showed insufficient knowledge on the etiology, epidemiology and prevalence of RDs, and many had problems with separating RDs from more common disorders. Moreover, they also lacked knowledge about and the central register of RD patients and reimbursement of orphan drugs in Kazakhstan. Finally, while almost half respondents declared having had classes about RDs during their studies most perceived their knowledge about RDs as insufficient or poor and felt unprepared for caring for RD patients. Additionally, although majority of respondents in both groups believed that all physicians, regardless of their specialization, should possess knowledge on RDs many respondents did not look for such information at all.

PMID:35462837 | PMC:PMC9031913 | DOI:10.3389/fpubh.2022.872648