J Med Case Rep. 2021 Sep 4;15(1):443. doi: 10.1186/s13256-021-03017-8.

ABSTRACT

BACKGROUND: Tubulointerstitial nephritis with uveitis syndrome is a rare disease affecting mainly children and young women. Tubulointerstitial nephritis with uveitis is a diagnosis of exclusion, requiring a high degree of clinical suspicion. Studies report recent infections or certain drugs as precipitating factors of a lymphocytic oculorenal immune response. The prognosis is usually favorable with topical and systemic corticosteroid therapy.

CASE PRESENTATION: We report a literature review and the case of a 14-year-old white girl, who presented to the ophthalmology department with features of one-sided uveitis. Upon transfer of patient to nephrological care, diagnostic work-up revealed renal involvement. Renal biopsy showed a mixed-cell and granulomatous tubulointerstitial nephritis with some noncaseating granulomas, leading to a diagnosis of tubulointerstitial nephritis with uveitis syndrome. With topical ocular and systemic corticosteroid therapy, the patients' condition improved over several weeks.

CONCLUSIONS: Our case highlights the importance of early recognition and treatment of this syndrome, where cross-specialty care typically leads to a favorable outcome.

PMID:34479628 | DOI:10.1186/s13256-021-03017-8

Am J Case Rep. 2021 Sep 3;22:e932869. doi: 10.12659/AJCR.932869.

ABSTRACT

BACKGROUND Xanthogranulomatous prostatitis is rare, with no more than 10 to 15 cases reported to date. The presentation typically includes lower urinary tract or lower urinary tract infection symptoms. The present case report describes a 65-year-old man diagnosed with xanthogranulomatous prostatitis after a prolonged course of atypical symptoms. Symptom remission was achieved with low-dose Cymbalta and 6 weeks of ciprofloxacin. CASE REPORT A 65-year-old man had a 1-year history of pelvic floor disorder, including treatment-resistant tenesmus and rectal and perineal pain. The patient eventually developed a reduced urinary steam with urinary retention. On digital rectal examination, his prostate was non-tender and had significant firmness on the left side. Magnetic resonance imaging of the prostate with and without contrast showed a Prostate Imaging-Reporting and Data Stem 5 lesion involving the left peripheral zone of the prostate with diffuse enhancement and low signal throughout the gland. Suspicious adjacent lymphadenopathy also was present. The patient's prostate-specific antigen level was within the normal range at 2.4 ng/mL. All 13 left prostatic biopsy specimens showed acute and chronic inflammatory changes with prominent xanthogranulomatous features and without evidence of necrosis. All of the patient's symptoms, including pain, resolved after he started taking Cymbalta and completed a 6-week course of ciprofloxacin. CONCLUSIONS The present case report describes an atypical presentation of xanthogranulomatous prostatitis, which started with symptoms of pelvic floor disorder that preceded urinary symptoms by at least 1 year. The patient's symptoms improved after he started taking Cymbalta and completed a 6-week course of ciprofloxacin, 500 mg twice daily, and without concurrent treatment with an alpha blocker, corticosteroids, or pelvic floor therapy.

PMID:34475372 | DOI:10.12659/AJCR.932869

Neuron. 2021 Aug 25:S0896-6273(21)00580-8. doi: 10.1016/j.neuron.2021.08.005. Online ahead of print.

ABSTRACT

Human accelerated regions (HARs) are the fastest-evolving regions of the human genome, and many are hypothesized to function as regulatory elements that drive human-specific gene regulatory programs. We interrogate the in vitro enhancer activity and in vivo epigenetic landscape of more than 3,100 HARs during human neurodevelopment, demonstrating that many HARs appear to act as neurodevelopmental enhancers and that sequence divergence at HARs has largely augmented their neuronal enhancer activity. Furthermore, we demonstrate PPP1R17 to be a putative HAR-regulated gene that has undergone remarkable rewiring of its cell type and developmental expression patterns between non-primates and primates and between non-human primates and humans. Finally, we show that PPP1R17 slows neural progenitor cell cycle progression, paralleling the cell cycle length increase seen predominantly in primate and especially human neurodevelopment. Our findings establish HARs as key components in rewiring human-specific neurodevelopmental gene regulatory programs and provide an integrated resource to study enhancer activity of specific HARs.

PMID:34478631 | DOI:10.1016/j.neuron.2021.08.005

Int J Clin Exp Hypn. 2021 Sep 3:1-15. doi: 10.1080/00207144.2021.1965484. Online ahead of print.

ABSTRACT

Mastocytosis is an orphan disease associated with many systemic symptoms, chronic handicap, and potentially marked social consequences despite improved therapies. In this study, the authors aimed to measure the effect of 2 hypnosis sessions on mastocytosis symptoms in a clinical setting. Questionnaires (pain, flushes, energy, digestive symptoms, quality of life, perceived symptom severity, and global impression of change) were completed pre- and posthypnosis intervention. Data from 20 patients were analyzed (mean age: 53.3 years, 75% female). Compared to baseline assessment, patients exhibited a significant improvement immediately after the first and second hypnosis sessions with regard to the number of days with abdominal pain, abdominal pain intensity and fatigue (p = .03 and p = .005; p = .05 and p = .02; p = .034, and p = .039, respectively). Perceived severity of symptoms was significantly improved throughout the study (p = .0075). Long-term improvement in global impression of change was observed in half the responders (8/16). Patients with mastocytosis had an improvement in disabling symptoms with the impact of hypnotic intervention persisting at 1 month. Several patients experienced long-term improvement.

PMID:34474650 | DOI:10.1080/00207144.2021.1965484

J Glob Health. 2021 Aug 31;11:03064. doi: 10.7189/jogh.11.03064. eCollection 2021.

NO ABSTRACT

PMID:34471521 | PMC:PMC8325929 | DOI:10.7189/jogh.11.03064

Biopreserv Biobank. 2021 Sep 1. doi: 10.1089/bio.2021.0042. Online ahead of print.

ABSTRACT

Microsatellites, or MSATs, offer a fast and cost-effective way for biobanks to establish a biospecimen genetic profile. Importantly, this genetic profile can be used to authenticate multiple submissions derived from the same individual as well as biospecimens derived from the same original sample submission over time. While the Certificate of Confidentiality provided by the National Institutes of Health offers some meaningful protection to prevent the disclosure of potentially identifiable information to entities within the United States, we consider, in this study, the potential to offer additional protection to participants who choose to donate to biobanks by minimizing the use of forensic Combined DNA Index System (CODIS) MSAT markers in biobanking. To this end, we report the design and validation of a new multiplexed MSAT assay that does not include CODIS markers for use in biobanking operations and quality control management.

PMID:34468209 | DOI:10.1089/bio.2021.0042

AMIA Annu Symp Proc. 2021 May 17;2021:325-334. eCollection 2021.

ABSTRACT

Rare diseases affect between 25 and 30 million people in the United States, and understanding their epidemiology is critical to focusing research efforts. However, little is known about the prevalence of many rare diseases. Given a lack of automated tools, current methods to identify and collect epidemiological data are managed through manual curation. To accelerate this process systematically, we developed a novel predictive model to programmatically identify epidemiologic studies on rare diseases from PubMed. A long short-term memory recurrent neural network was developed to predict whether a PubMed abstract represents an epidemiologic study. Our model performed well on our validation set (precision = 0.846, recall = 0.937, AUC = 0.967), and obtained satisfying results on the test set. This model thus shows promise to accelerate the pace of epidemiologic data curation in rare diseases and could be extended for use in other types of studies and in other disease domains.

PMID:34457147 | PMC:PMC8378621

Polymers (Basel). 2021 Aug 18;13(16):2770. doi: 10.3390/polym13162770.

ABSTRACT

Hidradenitis suppurativa (HS) has been considered an orphan disease with limited treatments available. The available topical treatment for this condition is clindamycin lotion; however, short retention and frequent application are the main setbacks. Thus, the present study aimed to attain an optimized antibacterial in situ spray formulation for the hidradenitis suppurativa skin condition, which gels once in contact with the skin surface at around 37 °C and possesses bioadhesion as well as sustained-release properties of the incorporated drug. Different concentrations of thermo-reversible gelling polymer, Pluronic F-127, were investigated along with the selected bioadhesive polymers, HPMC and SA. The optimized formulation F3 consisting of 18% Pluronic F-127 with 0.2% HPMC and 0.2% SA was characterized based on various physicochemical properties. The gelation temperature of F3 was found to be 29.0 ± 0.50 °C with a gelation time of 1.35 ± 0.40 min and a pH of 5.8. F3 had the viscosity of 178.50 ± 5.50 cP at 25 °C and 7800 ± 200 cP at 37 °C as the gel set. The optimized formulation was found to be bioadhesive and cytocompatible. Cumulative drug release was 65.05% within the time-frame of 8 h; the release pattern of the drug followed zero-order kinetics with the Higuchi release mechanism. The average zone of inhibition was found to be 43.44 ± 1.34 mm. The properties of F3 formulation reflect to improve residence time at the site of application and can enhance sustained drug release. Therefore, it could be concluded that optimized formulation has better retention and enhanced antimicrobial activity for superior efficacy against HS.

PMID:34451309 | DOI:10.3390/polym13162770

BMJ Case Rep. 2021 Aug 23;14(8):e245842. doi: 10.1136/bcr-2021-245842.

NO ABSTRACT

PMID:34426434 | PMC:PMC8383881 | DOI:10.1136/bcr-2021-245842

JAMA Pediatr. 2021 Aug 23. doi: 10.1001/jamapediatrics.2021.2829. Online ahead of print.

ABSTRACT

IMPORTANCE: Newborn genomic sequencing (nGS) may provide health benefits throughout the life span, but there are concerns that it could also have an unfavorable (ie, negative) psychosocial effect on families.

OBJECTIVE: To assess the psychosocial effect of nGS on families from the BabySeq Project, a randomized clinical trial evaluating the effect of nGS on the clinical care of newborns from well-baby nurseries and intensive care units.

DESIGN, SETTING, AND PARTICIPANTS: In this randomized clinical trial conducted from May 14, 2015, to May 21, 2019, at well-baby nurseries and intensive care units at 3 Boston, Massachusetts, area hospitals, 519 parents of 325 infants completed surveys at enrollment, immediately after disclosure of nGS results, and 3 and 10 months after results disclosure. Statistical analysis was performed on a per-protocol basis from January 16, 2019, to December 1, 2019.

INTERVENTION: Newborns were randomized to receive either standard newborn screening and a family history report (control group) or the same plus an nGS report of childhood-onset conditions and highly actionable adult-onset conditions (nGS group).

MAIN OUTCOMES AND MEASURES: Mean responses were compared between groups and, within the nGS group, between parents of children who received a monogenic disease risk finding and those who did not in 3 domains of psychosocial impact: parent-child relationship (Mother-to-Infant Bonding Scale), parents' relationship (Kansas Marital Satisfaction Scale), and parents' psychological distress (Edinburgh Postnatal Depression Scale anxiety subscale).

RESULTS: A total of 519 parents (275 women [53.0%]; mean [SD] age, 35.1 [4.5] years) were included in this study. Although mean scores differed for some outcomes at singular time points, generalized estimating equations models did not show meaningful differences in parent-child relationship (between-group difference in adjusted mean [SE] Mother-to-Infant Bonding Scale scores: postdisclosure, 0.04 [0.15]; 3 months, -0.18 [0.18]; 10 months, -0.07 [0.20]; joint P = .57) or parents' psychological distress (between-group ratio of adjusted mean [SE] Edinburgh Postnatal Depression Scale anxiety subscale scores: postdisclosure, 1.04 [0.08]; 3 months, 1.07 [0.11]; joint P = .80) response patterns between study groups over time for any measures analyzed in these 2 domains. Response patterns on one parents' relationship measure differed between groups over time (between-group difference in adjusted mean [SE] Kansas Marital Satisfaction Scale scores: postdisclosure, -0.19 [0.07]; 3 months, -0.04 [0.07]; and 10 months, -0.01 [0.08]; joint P = .02), but the effect decreased over time and no difference was observed on the conflict measure responses over time. We found no evidence of persistent negative psychosocial effect in any domain.

CONCLUSIONS AND RELEVANCE: In this randomized clinical trial of nGS, there was no persistent negative psychosocial effect on families among those who received nGS nor among those who received a monogenic disease risk finding for their infant.

TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02422511.

PMID:34424265 | DOI:10.1001/jamapediatrics.2021.2829

J Pak Med Assoc. 2021 Jul;71(7):1893-1896. doi: 10.47391/JPMA.572.

ABSTRACT

External auditory canal, like other epithelialized surfaces is predisposed to malignancies such as Squamous cell carcinomas (SCC), melanomas and adenocarcinomas. In this background, malignancies like adenoid cystic carcinoma (ACC) are a rare occurrence and need to be thoroughly evaluated both locally and for distant extension. The malignancy needs to be addressed with an aggressive approach surgically with adequate marginal clearance. The role of radiation is debatable considering the outcomes in the limited data. Here we present the case of a 35-year-old female who came in with otalgia and otorrhea associated with a mass in the external auditory canal. After biopsy and imaging, a diagnosis of adenoid cystic carcinoma was made and the patient was managed accordingly.

PMID:34410269 | DOI:10.47391/JPMA.572

Pediatr Blood Cancer. 2021 Aug 19:e29309. doi: 10.1002/pbc.29309. Online ahead of print.

NO ABSTRACT

PMID:34411431 | DOI:10.1002/pbc.29309

Unfallchirurg. 2021 Sep;124(9):755-767. doi: 10.1007/s00113-021-01061-z. Epub 2021 Aug 16.

ABSTRACT

Congenital pseudarthrosis of the tibia (CPT) is a rare disease that has challenged trauma and orthopedic surgeons for a long time. Clinically CPT mostly presents with progressive varus and antecurvation malformation of the tibia in infancy and childhood. In many cases CPT is associated with neurofibromatosis or fibrous dysplasia. Without knowledge of the clinical picture a discontinuity of the tibia and/or fibula visible on an X‑ray can be misinterpreted as a simple fracture. Histopathological investigations have revealed that a pathological alteration of the periosteum in the region of the pseudarthrosis, a hamartoma, may be essentially responsible for this disorder. Consequently, to treat the CPT a resection of the hamartoma must also be carried out. Multimodal treatment approaches combining pharmacological and surgical treatment, such as the cross-union technique of Paley, seem to have improved the prognosis of CPT.

PMID:34398278 | DOI:10.1007/s00113-021-01061-z

Medicine (Baltimore). 2021 Aug 13;100(32):e26906. doi: 10.1097/MD.0000000000026906.

ABSTRACT

RATIONALE: Mucinous cystadenoma is a benign tumor that is commonly found in the pancreas, ovaries, or appendix, but is rarely encountered in the lungs. Worldwide, only a few reported cases of these tumors originate in the lungs. Herein, we analyzed the imaging features of a case of pulmonary mucinous cystadenoma (PMCA). To the best of our knowledge, this is the first reported case of PMCA complicated by significant infection.

PATIENT CONCERNS: A 57-year-old man was admitted to our hospital with blood in sputum for more than 2 months. Serum laboratory examination showed significantly elevated leukocyte and tumor marker, carcinoembryonic antigen. Enhanced thoracic computed tomography and whole-body positron emission tomography/computed tomography showed a cystic-solid ill-defined mass in the right upper lung.

DIAGNOSIS: The tumor was considered malignant, both clinically and radiologically.

INTERVENTIONS: The patient underwent right upper lobe tumor resection and mediastinal lymph node dissection.

OUTCOMES: Postoperative specimen pathology was diagnosed as PMCA with infection. The patient was not administered any further treatment. The patient was alive without any recurrence or metastasis of the tumor after 2 years of follow-up.

LESSONS: Preoperative diagnosis of PMCA with atypical imaging and clinical manifestations is extremely difficult. This is the first reported case of PMCA complicated by a significant infection that was misdiagnosed preoperatively as a malignancy.

PMID:34397923 | PMC:PMC8360477 | DOI:10.1097/MD.0000000000026906

Mol Genet Metab. 2021 Jul 30:S1096-7192(21)00760-5. doi: 10.1016/j.ymgme.2021.07.009. Online ahead of print.

ABSTRACT

Duarte galactosemia is not classic galactosemia, but rather an example of biochemical variant galactosemia that results in approximately 25% residual activity of galactose-1-phosphate uridylyltransferase (GALT) enzyme. In contrast, classic galactosemia is associated with complete or near complete absence of GALT activity. While infants with classic galactosemia are placed on galactose-restricted diets to prevent the acute and long-term manifestations of their metabolic disorder, while individuals with Duarte variant galactosemia (Duarte-2 galactosemia) do not require diet therapy. The long-term complications that are seen in classic galactosemia such as cerebellar ataxia, and hypergonadotropic hypogonadism do not occur in Duarte-2 galactosemia. While Duarte galactosemia does not appear to be a metabolic disease, it may have an impact on early neurodevelopmental outcomes. This study examined developmental outcomes and the need for special services in individuals with Duarte-2 galactosemia in comparison to individuals with classic galactosemia. We performed a medical record review of individuals with GALT deficiency who were evaluated at Boston Children's Hospital and enrolled in our study of outcomes in galactosemia. This included 95 participants, 21 with Duarte-2 galactosemia and 73 with classic galactosemia. Duarte-2 participants had developmental test scores within the average range. However, 42% of subjects with Duarte-2 galactosemia had participated in early intervention and/or special education and 32% received speech therapy. Their pattern of strengths and weaknesses in cognitive/language/motor domains was similar to that noted in participants with classic galactosemia, albeit to a milder degree. The data indicate that in children with Duarte-2 variant galactosemia, the cognitive/language and motor skills were within normal limits with their cognitive/language skills developing earlier than their motor skills during their first year of life. A history of diet treatment was not related to the use of special services. These results suggest that Duarte-2 galactosemia increases the risk for early mild developmental delays irrespective of treatment history, which resolves over time, and highlights the need to further assess neurodevelopment in early infancy, in Duarte-2 galactosemia. As Duarte-2 galactosemia is not a bona fide biochemical genetic disease, we hypothesize that elements in the genomic space that include the GALT gene are responsible for a transient delay in language-related motor skills during early infancy.

PMID:34391645 | DOI:10.1016/j.ymgme.2021.07.009

Orphanet J Rare Dis. 2021 Aug 12;16(1):361. doi: 10.1186/s13023-021-01994-z.

ABSTRACT

BACKGROUND: The threat and experience of pandemics occur differently for different groups. The rare disease population is at particular risk of being further marginalised during pandemics. In this study, our objective was to assess the hospital mortality patterns in the rare disease and the general populations during the coronavirus disease of 2019 (COVID-19) and severe acute respiratory syndrome (SARS) pandemics in Hong Kong.

METHODS: All admission records during the COVID-19 pandemic (January 23-August 23, 2020) and SARS pandemic (March 11-June 30, 2003) were extracted from the local public healthcare database. Patients with rare diseases were identified using one or more of the 1084 10th version International Classification of Diseases and Related Health Problems (ICD-10) codes cross-referenced with 467 ORPHAcodes. Hospital mortality patterns were compared in patients with and without COVID-19/SARS infection. Admission records during the same period in 2019 and 2002 were retrieved for comparison.

RESULTS: During the COVID-19 pandemic, 407,219 patients were admitted to one or more of the 43 public hospitals in Hong Kong, of which, 13,894 were patients with rare diseases (3.4%). A total of 4381 and 77 patients from the general and rare disease populations were infected with COVID-19. Rare disease patients had an adjusted 3.4 times odds of COVID-19-related hospital mortality compared with that of the general population (95% C.I. 1.24-9.41). COVID-19-related mortality was almost exclusively seen in patients ≥ 60 years. While age-related increase in mortality was also observed for the general population during the SARS pandemic, the pattern observed in the rare disease population was significantly different, with a 12.5 times higher SARS-related mortality observed in rare disease patients ≤ 18 years than those in the general population (12.5% vs 1.0%). Patients admitted during the same pandemic periods without coronavirus infection had a significantly higher hospital mortality compared with those admitted one year before the pandemic (p < 0.001).

CONCLUSION: This population-based study demonstrated the differential impacts of the COVID-19 and SARS pandemics on the rare disease population. In the era of budget and resource scarcity, this study warrants cautious healthcare planning, with consideration of the rare disease population in healthcare prioritisation.

PMID:34384469 | PMC:PMC8358899 | DOI:10.1186/s13023-021-01994-z

J Investig Med High Impact Case Rep. 2021 Jan-Dec;9:23247096211034303. doi: 10.1177/23247096211034303.

ABSTRACT

Hollow visceral myopathy (HVM) is described as impaired intestinal function and motility in the absence of mechanical obstruction. In this case report, we describe a unique case of an 18-year-old female who presented to the hospital with complaints of persistent nausea, vomiting, inability to tolerate oral feeds, and substantial weight loss for 2 months. After appropriate investigations, a diagnosis of gastroparesis was established. The patient was started on metoclopramide, which led to significant symptomatic improvement, and she was eventually discharged home. One month after discharge, she presented to the hospital with symptoms similar to her initial presentation. After further laboratory and radiological investigation, she was diagnosed with severe gastroparesis and chronic intestinal pseudo-obstruction. Over the next month, the patient was given an extensive trial of multiple prokinetic agents such as mirtazapine, ondansetron, pyridostigmine, octreotide, and promethazine, but she failed to show clinical improvement. Due to failure of medical therapy, a nasojejunal feeding tube was placed for enteral nutrition. However, the patient reported worsening of her symptoms despite slow feeding rates; hence, a decision was made to start the patient on total parenteral nutrition and transfer her to a larger tertiary center for higher level of care. At the tertiary hospital, the patient was continued on total parenteral nutrition and underwent extensive evaluation. Ultimately, she was diagnosed with HVM after a laparoscopic full-thickness intestinal biopsy showed histopathological evidence of the disease. She underwent isolated small intestine transplant, which led to significant improvement of her symptoms and was eventually discharged home. The patient continues to be symptom-free and follows up with Gastroenterology and Transplant Surgery regularly. This case report highlights a rare clinical condition, HVM, as a potential diagnosis in patients with clinical features of intestinal obstruction without mechanical obstruction.

PMID:34378443 | PMC:PMC8361550 | DOI:10.1177/23247096211034303

Orphanet J Rare Dis. 2021 Aug 9;16(1):356. doi: 10.1186/s13023-021-01944-9.

ABSTRACT

BACKGROUND: Rare disease patient-reported outcome measures (PROMs) require linguistic adaptation to overcome the challenge of geographically dispersed patient populations. Importantly, PROMs such as health-related quality of life (HRQoL) should accurately capture responses to patient-identified concerns. The Systemic Sclerosis Quality of Life Questionnaire (SScQoL) is a 29-item tool validated in six languages. Previous evaluation of the German version revealed problems with dichotomous responses. This study aimed to revise the German SScQoL, extend the response structure, and evaluate content and construct validity, reliability and unidimensionality.

METHODS: The instrument validation study involved revising the German SScQoL response structure, cognitive debriefing with patients and validation using Rasch analysis. The revised SScQoL was completed by Swiss-German-speaking patients with SSc within the Swiss MANagement Of Systemic Sclerosis (MANOSS) study. Rasch analysis was employed to test the validity, reliability and unidimensionality of the revised instrument.

RESULTS: Based on cognitive debriefing with patients (n = 6) dichotomous items were extended to a polytomous 4-point response structure. A total of 78 patients completed the revised SScQoL. Initial analysis of the 29 items suggested the scale lacked fit to the model (χ2 = 51.224, df = 29, p = 0.007). Grouping items into five domains resulted in an adequate fit to the Rasch model (χ2 = 5.343, df = 5, p = 0.376) and unidimensionality (proportion of significant independent t tests: 0.045, 95% CI 0.016-0.114). Overall, the scale was well targeted, had high internal consistency (Person Separation Index, PSI = 0.931) and worked consistently in patients with different demographic and clinical characteristics.

CONCLUSIONS: The revised German SScQoL has a 4-point response structure and is a valid, reliable measure. Rasch analysis is useful for validating continuous response structure of quality of life measures. Further evaluation of measurement equivalence with other German-speaking cultures is required for multinational comparisons and data pooling.

PMID:34372892 | PMC:PMC8351336 | DOI:10.1186/s13023-021-01944-9

BMJ Case Rep. 2021 Aug 9;14(8):e243196. doi: 10.1136/bcr-2021-243196.

ABSTRACT

A 59-year-old woman was referred to the emergency room with acute abdominal pain. A CT scan revealed multiple dissections and microaneurysms of the superior mesenteric, the hepatic and the renal arteries. Stenting of the superior mesenteric artery was required. A non-invasive diagnostic procedure was instrumental to establish the diagnosis and guide appropriate treatment, which resulted in a rapid and sustained recovery.

PMID:34373241 | DOI:10.1136/bcr-2021-243196

Mol Genet Metab Rep. 2021 Aug 4:100788. doi: 10.1016/j.ymgmr.2021.100788. Online ahead of print.

ABSTRACT

The impact of the COVID-19 pandemic on the standards of care of patients with lysosomal storage diseases and the needs of their healthcare providers were explored using a 12-question survey. Overall, 80/91 respondents (88%) indicated that the pandemic had negatively affected standards of care. With increased reliance on telemedicine, the respondents highlighted the need for a personalized approach to care, direct and frequent communication with patients, and greater involvement of patients and caregivers.

PMID:34367919 | PMC:PMC8332928 | DOI:10.1016/j.ymgmr.2021.100788