Case series: an essential study design to build knowledge and pose hypotheses for rare and new diseases.

J Bras Pneumol. 2020 Sep 07;46(4):e20200389

Authors: Torres-Duque CA, Patino CM, Ferreira JC

PMID: 32901691 [PubMed - indexed for MEDLINE]

Acute cerebellar ataxia: a rare Toscana Virus (TOSV) meningoencephalitis complication.

Int J Neurosci. 2020 Mar;130(3):276-278

Authors: Suardi LR, Di Lauria N, Pozzi M, Rogasi PG, Barilaro A, Azzolini F, Prestipino E, Colao MG, Rossolini GM, Bartoloni A

Abstract
Purpose: Arbovirosis, viral infection transmitted by arthropods, is a widespread health problem. In Italy, as well for all Mediterranean basin, from late spring to the end of summer, Toscana Virus (TOSV), a sandfly borne virus, accounts for the majority of aseptic meningitis/meningoencephalitis cases. TOSV meningitis/meningoencephalitis has usually a self-extinguishing benign course. Our aim is to report a case of a young healthy women diagnosed with Toscana Virus meningoencephalitis with a complicated clinical course.Materials and methods/results: Case report of a 33-years old woman, admitted to the Infectious Diseases Unit at Careggi General Hospital (Florence-Italy), with a diagnosis of Toscana Virus meningoencephalitis. Seventy-two hours after the admission, she developed typical symptoms, as impaired legs coordination, slurred speech, stumbling and dysmetria, of acute cerebellar ataxia (ACA). Urgent neurological assessment was provided performing an electroencephalography study followed by a brain and brainstem magnetic resonance imaging. In the meanwhile, bilateral nystagmus arised. Through neurologist consultation ACA clinical diagnosis was then made and intravenous steroid therapy was administered with prompt symptoms resolution. The patient was finally discharged at day 10 since the ACA onset in good clinical conditions.Conclusions: To raise awareness among physicians about possible neurological complications during Toscana Virus meningoencephalitis.

PMID: 31554442 [PubMed - indexed for MEDLINE]

The P72R Polymorphism in R248Q/W p53 Mutants Modifies the Mutant Effect on Epithelial to Mesenchymal Transition Phenotype and Cell Invasion via CXCL1 Expression.

Int J Mol Sci. 2020 Oct 28;21(21):

Authors: De Souza C, Madden JA, Minn D, Kumar VE, Montoya DJ, Nambiar R, Zhu Z, Xiao WW, Tahmassebi N, Kathi H, Nelson N, Karnezis AN, Chien J

Abstract
High-grade serous carcinoma (HGSC), the most lethal subtype of epithelial ovarian cancer (EOC), is characterized by widespread TP53 mutations (>90%), most of which are missense mutations (>70%). The objective of this study was to investigate differential transcriptional targets affected by a common germline P72R SNP (rs1042522) in two p53 hotspot mutants, R248Q and R248W, and identify the mechanism through which the P72R SNP affects the neomorphic properties of these mutants. Using isogenic cell line models, transcriptomic analysis, xenografts, and patient data, we found that the P72R SNP modifies the effect of p53 hotspot mutants on cellular morphology and invasion properties. Most importantly, RNA sequencing studies identified CXCL1 a critical factor that is differentially affected by P72R SNP in R248Q and R248W mutants and is responsible for differences in cellular morphology and functional properties observed in these p53 mutants. We show that the mutants with the P72 SNP promote a reversion of the EMT phenotype to epithelial characteristics, whereas its R72 counterpart promotes a mesenchymal transition via the chemokine CXCL1. These studies reveal a new role of the P72R SNP in modulating the neomorphic properties of p53 mutants via CXCL1, which has significant implications for tumor invasion and metastasis.

PMID: 33126568 [PubMed - as supplied by publisher]

Amassing Granular Information About Eosinophilic Gastrointestinal Disorders Through Multicenter Cooperation: A Paradigm for Rare Disease Study.

Dig Dis Sci. 2020 07;65(7):1880-1881

Authors: Ravi A, Katzka DA

PMID: 31970606 [PubMed - indexed for MEDLINE]

A pragmatic, adaptive clinical trial design for a rare disease: The FOcal Cerebral Arteriopathy Steroid (FOCAS) trial.

Contemp Clin Trials. 2019 11;86:105852

Authors: Park Y, Fullerton HJ, Elm JJ

Abstract
BACKGROUND: Pediatric stroke investigators identified as their top research priority a clinical trial of corticosteroids for focal cerebral arteriopathy (FCA). However, FCA is both rare and an acute condition making it infeasible to enroll the large sample sizes needed for standard, confirmatory clinical trials. We present a pragmatic approach to clinical trial design that may inform the approach to other rare disorders.
METHODS: We surveyed pediatric stroke experts to determine the level of evidence that would impact their clinical management of FCA. Incorporating survey results, a randomized, group sequential Bayesian adaptive design was proposed based on a quantitative radiologic outcome measure (change from baseline in change in the FCA Severity Score). Using accumulating information, the design determines whether intervention is better than control with high probability.
RESULTS: Among 21 (100%) respondents, the probability of corticosteroid efficacy that would lead the experts to treat was 30% (median). The probability of efficacy that would make them unwilling to randomize (because they would feel all children should receive corticosteroids) was 70%. Simulation studies with the proposed design showed that a total of 42 subjects controls the type I error rate at the desired level 0.20 and yields a smaller average sample size and trial duration compared to a conventional design.
CONCLUSIONS: Designs in rare diseases require special considerations; this is especially true for this childhood disease, which is both uncommon and acute. This design has incorporated expert consensus to establish the criteria for success, formal monitoring rules for safety, and early stopping rules.

PMID: 31614215 [PubMed - indexed for MEDLINE]

Effective treatment of disseminated superficial actinic porokeratosis with chemical peels - customary treatment for a rare disease.

J Dermatolog Treat. 2020 Nov;31(7):744-748

Authors: Lang BM, Peveling-Oberhag A, Zimmer S, Wegner J, Sohn A, Grabbe S, Staubach P

Abstract
Background: Disseminated superficial actinic porokeratosis (DSAP) is a rare dermatologic disorder of the epidermis. Often misdiagnosed as chronic UV-damage or actinic keratoses, patients are treated for years with different therapeutic options with little success. Current treatment options include imiquimod, ingenol mebutate, cryosurgery, photodynamic therapy and topical or systemic therapy with retinoids. Since those approaches show only little success or come along with major side effects, therapeutic alternatives are strongly requested. Methods: We report a series of five female patients with history of DSAP that were successfully treated with chemical peels. Results: All patients suffered from the disease for 14.4 years on average and all were refractory to at least two therapeutic options, mostly imiquimod and topical tretinoin. Patients were treated with glycolic acid 50% and salicylic acid 25% in a two-layer-technique. After a mean of three cycles every 6 weeks a clear reduction in lesion was assessed by physicians. Patients were highly satisfied with outcome and rare occurrence of side effects as assessed by TSQM questionnaire. Conclusion: Chemical peels are safe and well tolerated treatment options for patients with refractory porokeratosis. As characteristic for chronic diseases, frequent repetition of treatment is needed in order to control disease activity.

PMID: 31018713 [PubMed - indexed for MEDLINE]

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/10/30

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Solitary neurofibroma of maxilla: a rare clinical entity.

BMJ Case Rep. 2020 Feb 28;13(2):

Authors: Grewal M, Saini N, Gautam S, Garg P

Abstract
Neurofibroma (NF) is a benign tumour of the peripheral nervous system which is rare in head and neck region. Head and neck NF are mostly located in the soft tissue and rarely seen intraosseously. These may present either as solitary lesions or as part of the generalised syndrome of neurofibromatosis or von Recklinghausen's disease of the skin. The intraosseous ones are most commonly seen as solitary lesions, rather than part of neurofibromatosis. The following report describes a unique case of a solitary neurofibroma of the maxilla without generalised syndrome of neurofibromatosis in a male patient.

PMID: 32111709 [PubMed - indexed for MEDLINE]

Cystic fibrosis: a rare disease emerging in China.

Sci China Life Sci. 2020 Jul;63(7):1082-1084

Authors: Zhang T, Tian X, Xu KF

PMID: 32103413 [PubMed - indexed for MEDLINE]

A Rare Case of a Left-sided Gallbladder Accompanied with an Aplastic Cystic Duct in a Patient with Acute Cholecystitis.

Am J Case Rep. 2020 Feb 19;21:e920821

Authors: Chatzifotiou D, Schnell M, Lupascu B, Gundlach M

Abstract
BACKGROUND A left-sided gallbladder without situs inversus is a rare congenital anomaly of the gallbladder with a prevalence ranging from 0.04-0.3%. CASE REPORT We present a case of a female patient, referred to our clinic with clinical features of an acute cholecystitis. After performing the standard preoperative investigations, which confirmed the diagnosis, the patient underwent a laparoscopic cholecystectomy. We found a left-sided gallbladder, attached to the lower surface of the left lobe of the liver. During the dissection in the Callot triangle an aplastic cystic duct was also identified. The extirpation of the gallbladder was performed anterograde, allowing a better exposition of the critical structures. CONCLUSIONS A left sided gallbladder is almost an incidental finding, which can be accompanied with further anomalies of the biliary tree. A combination of these 2 variations is very rare without any other reported cases in the literature.

PMID: 32071285 [PubMed - indexed for MEDLINE]

Percutaneous Pulsed Radiofrequency Treatment in a Patient with Chronic Bilateral Painful Glossopharyngeal Neuropathy.

Am J Case Rep. 2020 Feb 11;21:e920579

Authors: van Tilburg CWJ

Abstract
BACKGROUND Due to its rareness, we present a case of chronic, bilateral, painful glossopharyngeal neuropathy, which developed after nasal septum and inferior concha surgery, and was non-surgically treated with percutaneous pulsed radiofrequency at the glossopharyngeal nerve, using an extra-oral approach. CASE REPORT A 41-year-old Caucasian female patient (60 kg, 1.57 m, body mass index 24.8 kg/m²) was referred to the Pain Center by her general practitioner because of ongoing pressing pain in her throat 4 months after nasal septum and inferior concha surgery. Based upon medical history, physical examination and the results of additional questionnaires, a probable diagnosis of atypical neck pain was made, based on ongoing glossopharyngeal stimulation, involvement of the pterygopalatine ganglion or/and superior cervical ganglion, with secondary involvement of the muscles of the neck. We changed the analgesic regimen and performed a pulsed radiofrequency treatment of the glossopharyngeal nerve on both sides. The patient had made progress and reported that she actually felt better but she asked for repeat treatment because of residual complaints. We performed the procedure for a second time on both sides. The results of the questionnaires before (T0) treatment, 3 months after the first (T1) and 3 months after the second (T2) treatment are provided. After the second procedure, the patient reported that her swallowing complaints had further diminished, as well as the pain behind her ears. She stopped using pregabalin. Residual complaints were manageable. CONCLUSIONS In patients with painful glossopharyngeal neuropathy, a non-surgically treatment with percutaneous pulsed radiofrequency at the glossopharyngeal nerve, using an extra-oral approach, seems to be an effective and safe method to use.

PMID: 32041932 [PubMed - indexed for MEDLINE]

Symptomatic congenital Morgagni hernia presenting as a chest pain: a case report.

J Med Case Rep. 2020 Jan 18;14(1):13

Authors: Mohamed M, Al-Hillan A, Shah J, Zurkovsky E, Asif A, Hossain M

Abstract
BACKGROUND: Morgagni hernia is a rare form of congenital diaphragmatic hernia with a prevalence of 2-3%. It occurs due to a defect on the anterior part of the diaphragm, which allows abdominal organs to penetrate into the thoracic cavity. This condition can be detected during fetal life by routine ultrasonography or late during adult life. Late diagnosis of this condition in adults is extremely rare. According to our literature search, only a few cases of symptomatic hernia in adults have been reported so far. Surgery provides definitive treatment for patients with Morgagni hernia; it is always recommended for symptomatic and asymptomatic adult patients to avoid future complications such as volvulus, small bowel obstruction, incarceration, or strangulation. We report a case of a patient who presented with chest pain due to newly diagnosed congenital diaphragmatic hernia.
CASE PRESENTATION: A 29-year-old unemployed white man with no significant past medical history or family history of coronary artery disease, who was a current smoker with a 1-pack-per-day history, presented to our hospital with a 1-month history of intermittent chest pain. His chest pain was localized to the right side with a pressure-like quality, moderate intensity 4-6/10, nonradiating, and relieved by standing up and worsened by lying flat. His pain was not associated with increase or decrease in activity level. The pain had progressively worsened, which prompted the patient to come to the emergency room. The patient was admitted for further evaluation. A chest x-ray showed a suspected loop of bowel on the right side of the chest. Subsequently, the patient underwent computed tomography of the chest, which revealed a 7-cm defect in the right hemidiaphragm with a large amount of intra-abdominal fat and a loop of the proximal transverse colon within the hernial sac. The patient was evaluated by a surgeon and eventually underwent laparoscopic repair of the diaphragmatic hernia with mesh repair. In follow-up, the patient's symptoms resolved.
CONCLUSION: Morgagni hernia is a rare form of congenital diaphragmatic hernia. It is commonly found either in the first few hours of life or in the antenatal period. It is less common in adults and is usually diagnosed accidentally in asymptomatic patients. Symptomatic adult cases are extremely rare. Respiratory symptoms are the most common presenting symptoms. The primary management for both symptomatic and incidentally discovered asymptomatic cases of Morgagni hernia is surgical correction. Various thoracic and abdominal surgical approaches have been described without a clear consensus on preference for operative repair technique.

PMID: 31952551 [PubMed - indexed for MEDLINE]

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/10/28

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/10/28

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Vitreous metabolomics profiling of proliferative diabetic retinopathy.

Diabetologia. 2020 Oct 25;:

Authors: Tomita Y, Cagnone G, Fu Z, Cakir B, Kotoda Y, Asakage M, Wakabayashi Y, Hellström A, Joyal JS, Talukdar S, Smith LEH, Usui Y

Abstract
AIMS/HYPOTHESIS: Proliferative diabetic retinopathy (PDR) with retinal neovascularisation (NV) is a leading cause of vision loss. This study identified a set of metabolites that were altered in the vitreous humour of PDR patients compared with non-diabetic control participants. We corroborated changes in vitreous metabolites identified in prior studies and identified novel dysregulated metabolites that may lead to treatment strategies for PDR.
METHODS: We analysed metabolites in vitreous samples from 43 PDR patients and 21 non-diabetic epiretinal membrane control patients from Japan (age 27-80 years) via ultra-high-performance liquid chromatography-mass spectrometry. We then investigated the association of a novel metabolite (creatine) with retinal NV in mouse oxygen-induced retinopathy (OIR). Creatine or vehicle was administered from postnatal day (P)12 to P16 (during induced NV) via oral gavage. P17 retinas were quantified for NV and vaso-obliteration.
RESULTS: We identified 158 metabolites in vitreous samples that were altered in PDR patients vs control participants. We corroborated increases in pyruvate, lactate, proline and allantoin in PDR, which were identified in prior studies. We also found changes in metabolites not previously identified, including creatine. In human vitreous humour, creatine levels were decreased in PDR patients compared with epiretinal membrane control participants (false-discovery rate <0.001). We validated that lower creatine levels were associated with vascular proliferation in mouse retina in the OIR model (p = 0.027) using retinal metabolomics. Oral creatine supplementation reduced NV compared with vehicle (P12 to P16) in OIR (p = 0.0024).
CONCLUSIONS/INTERPRETATION: These results suggest that metabolites from vitreous humour may reflect changes in metabolism that can be used to find pathways influencing retinopathy. Creatine supplementation could be useful to suppress NV in PDR. Graphical abstract.

PMID: 33099660 [PubMed - as supplied by publisher]

Pre-operative ultrasound diagnosis and successful surgery of a stomach incarcerated in epigastric hernia: a rare case report.

Folia Med Cracov. 2020;60(1):55-60

Authors: Gryglewski A, Wantuch K, Wójciak S, Opach Z, Richter P

Abstract
An incarcerated epigastric hernia (localized in linea alba) is a very rare observation. Here, we present a case of a 66-year-old white male who was admitted to the emergency department due to vomiting and epigastric pain. On physical examination, the only observed abnormality was a painless soft epigastric tumor located in the upper midline, measuring about 12 cm in diameter. The patient claimed that he had the tumor for more than 30 years and it never changed in diameter nor caused him any discomfort. A lipoma was initially suspected. However, an ultrasound of the abdomen revealed an incarcerated stomach, trapped due to the defect in the epigastric abdominal wall. The patient was sent for surgery and the presence of an incarcerated epigastric hernia of the linea alba, which contained the anterior wall of the stomach was confirmed. The presented case confirms that the use of ultrasonography may be an effective method to recognize unusual types of hernias, and that ultrasonography should be routinely used in emergency departments.

PMID: 32658212 [PubMed - indexed for MEDLINE]

Pustular Psoriasis: The Dawn of a New Era.

Acta Derm Venereol. 2020 Jan 30;100(3):adv00034

Authors: Bachelez H

Abstract
Pustular psoriasis is a clinically heterogeneous entity of different, orphan disease subtypes, among which the most clearly defined are generalized pustular psoriasis, palmoplantar psoriasis, and acrodermatitis continua of Hallopeau. Although phenotypically and genetically distinct from psoriasis vulgaris, these subtypes may be associated with plaque psoriasis lesions, establishing the rationale for their inclusion in the psoriasis spectrum. Unlike psoriasis, however, their genetic background is thought to be mainly monogenic, as shown by the recent identification of mutations in 3 different genes of the skin innate immune system; IL36RN, CARD14 and AP1S3. These major advances in the understanding of the disease pathogenesis have led to the design and ongoing development of tailored therapeutic approaches, which are highly necessary given the refractory nature of pustular psoriasis in response to most available antipsoriatic drugs.

PMID: 31971600 [PubMed - indexed for MEDLINE]

A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.

J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170

Authors: Olgac A, Öztoprak Ü, Kasapkara ÇS, Kılıç M, Yüksel D, Derinkuyu EB, Taşçı Yıldız Y, Ceylaner S, Ezgu FS

Abstract
Background Coenzyme Q10 (CoQ10) serves as a shuttle for electrons from complexes I and II to complex III in the respiratory chain, and has important functions within the mitochondria. Primary CoQ10 deficiency is a mitochondrial disorder which has devastating effects, and which may be partially treated with exogenous CoQ10 supplementation. Case presentation A 9-month-old girl patient was referred to our clinic due to growth retardation, microcephaly and seizures. She was the third child of consanguineous parents (first-degree cousins) of Pakistani origin, born at 38 weeks gestation, weighing 2000 g after an uncomplicated pregnancy, and was hospitalized for 3 days due to respiratory distress. She had sustained clonic seizures when she was 4 months old. Physical examination showed microcephaly, truncal hypotonia and dysmorphic features. Metabolic tests were inconclusive. Abdominal ultrasonography revealed cystic appearance of the kidneys. Non-compaction of the left ventricle was detected in echocardiography. Cranial magnetic resonance imaging (MRI) showed hypoplasia of the cerebellar vermis and brain stem, corpus callosum agenesis, and cortical atrophy. A panel testing of 450 genes involved in inborn errors of metabolism (IEM) was performed that showed a novel frameshift c.384delG (Gly129Valfs*17) homozygous mutation in COQ9. A treatment of 5 mg/kg/day exogenous CoQ10 was started when she was 10 months old, and the dosage was increased to 50 mg/kg/day after the exact diagnosis. No objective neurological improvement could be observed after the adjustment of the drug dosage. Conclusions We report a case of CoQ10 deficiency due to a novel COQ9 gene mutation that adds clinical data from a newly diagnosed patient. Our case also outlines the importance of genetic panels used for specific diseases including IEM.

PMID: 31821167 [PubMed - indexed for MEDLINE]

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A. 2020 Oct 24;:

Authors: Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y, Care4Rare Consortium, Centers for Mendelian Genomics, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM

Abstract
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype.

PMID: 33098347 [PubMed - as supplied by publisher]

Antineoplastic effect of a novel nanosized curcumin on cutaneous T cell lymphoma.

Oncol Lett. 2020 Dec;20(6):304

Authors: Trochopoulos AGX, Zaharieva MM, Marinova MH, Yoncheva K, Tibi IP, Berger MR, Konstantinov SM

Abstract
Cutaneous T cell lymphomas (CTCLs) are a group of heterogeneous, life-threatening, extra-nodal and lymphoproliferative T cell neoplasms. Since chronic inflammation serves a key role in CTCL progression, curcumin, a natural pigment with proven anti-inflammatory and antineoplastic properties, as well as minimal toxicity, may be used as a therapeutic agent. In the present study, two formulations of curcumin (standard ethanolic and a Pluronic®P-123/F-127 micellar solution) were compared regarding their cytotoxic efficacy and speed of internalization in three CTCL cell lines, namely HuT-78, HH and MJ. In addition, the modulating effect of curcumin on selected proteins involved in the proliferation and progression of the disease was determined. The results indicated the superiority of the Pluronic®P-123/F-127 micellar curcumin over the standard ethanol solution in terms of cellular internalization efficiency as determined by spectrophotometric analysis. Notably, the presence of commonly used media components, such as phenol red, may interfere when interpreting the cytotoxicity of curcumin, due to their overlapping absorbance peaks. Therefore, it was concluded that phenol red-free media are superior over media with phenol red in order to correctly measure the cytotoxic efficacy and cell penetration of curcumin. Depending on the cell line, the IC50 values of micellar curcumin varied from 29.76 to 1.24 µΜ, with HH cells demonstrating the highest sensitivity. This cell line had the lowest expression levels of the Wilms' tumor-1 transcription factor. Performing western blot analyses of treated and untreated CTCL cells, selective signal transduction changes were recorded for the first time, thus making curcumin nano-formulation an attractive and prospective option with therapeutic relevance for CTCL as a rare orphan disease.

PMID: 33093913 [PubMed]