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Internal Medicine (Tokyo, Japan) May 2024
PubMed: 38811227
DOI: 10.2169/internalmedicine.3569-24 -
Dermatology Practical & Conceptual Apr 2024The introduction of Janus Kinase inhibitors (JAKi) seems to revolutionize the field of alopecia areata (AA) therapeutics. However, real-world data are still missing.
INTRODUCTION
The introduction of Janus Kinase inhibitors (JAKi) seems to revolutionize the field of alopecia areata (AA) therapeutics. However, real-world data are still missing.
OBJECTIVES
To provide evidence about effectiveness and safety of tofacitinib and baricitinib in AA in real-world settings and describe baseline disease characteristics and patients profiles that are considered good candidates for JAKi in the daily practice. Furthermore, we intended to investigate potential correlations between baseline characteristics and treatment outcomes.
METHODS
We retrospectively reviewed the databases of two tertiary Hospitals in Greece, to identify individuals of any age currently being treated with systemic JAKi for severe AA.
RESULTS
We identified 42 individuals, including 3 adolescents. In our cohort, 52.3% (22/42) were under tofacitinib and 47.6% (20/42) under baricitinib treatment. Efficacy analysis was performed on the subgroup of 30 patients that had completed at least a 3-month follow-up on treatment. In the latter group, mean time on treatment was 10 months. Mean Severity of Alopecia Tool and mean Dermatology Life Quality Index scores decreased from 84.46% and 12.86 at baseline, to 43.26% and 6.63, respectively. Complete response (CR) was recorded in 4 (13.33%), partial in 12 (40%) and no response in 14 patients (46.66%), correspondingly. Seventeen out of 42 (40.5%) individuals in total, reported at least 1 adverse event. No patient required hospitalization. Among 15 patients (35.7%) who got COVID-19, one suffered from serious infection. The 3 adolescents achieved CR with no significant adverse events.
CONCLUSIONS
Real-world data suggest efficacy and safety of JAKi in severe forms of AA. Tolerability is optimal in younger individuals.
PubMed: 38810065
DOI: 10.5826/dpc.1402a73 -
Dermatology Practical & Conceptual Apr 2024
PubMed: 38810047
DOI: 10.5826/dpc.1402a132 -
Revista Paulista de Pediatria : Orgao... 2024To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal...
OBJECTIVE
To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T).
CASE DESCRIPTION
A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips, generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness and bone reabsorption in the terminal phalanges. In dermatological examination, atrophic skin, loss of cutaneous elasticity, hyperkeratosis, dermal calcinosis, and hyperpigmented and hypochromic patches were observed. Radiology exams performed showed bilateral absence of the mandibular condyles, clavicle resorption with local amorphous bone mass confluence with the scapulae, shoulder joints with subluxation and severe bone dysplasia, hip dysplasia, osteopenia and subcutaneous calcifications.
COMMENTS
MADA is a rare autosomal recessive disease caused by mutations in LMNA gene. It is characterized by craniofacial deformities, skeletal anomalies, skin alterations, lipodystrophy in certain regions of the body and premature ageing. Typical MADA is caused by the p.R527H mutation in the LMNA gene. However, molecular analysis performed from oral epithelial cells obtained from the patient showed the rare mutation c.1579C>T, p. R527C in the exon 9 of LMNA. This is the sixth family identified with this mutation described in the literature.
Topics: Humans; Female; Mutation, Missense; Lamin Type A; Child; Phenotype; Mandible; Lipodystrophy; Acro-Osteolysis
PubMed: 38808865
DOI: 10.1590/1984-0462/2024/42/2022189 -
Therapeutic Advances in Neurological... 2024Teriflunomide is a once-daily oral disease-modifying therapy (DMT) for the treatment of relapsing-remitting multiple sclerosis (RRMS). Only limited information is...
BACKGROUND
Teriflunomide is a once-daily oral disease-modifying therapy (DMT) for the treatment of relapsing-remitting multiple sclerosis (RRMS). Only limited information is available about its real-world use and changes over time.
OBJECTIVES
To collect real-world data on teriflunomide use in clinical routine (and comparison to the previously conducted study TAURUS-MS).
DESIGN
National, open, non-interventional, prospective, multicenter study.
METHODS
TAURUS-MS II was conducted at 220 German sites between July 2017 and March 2022, including RRMS patients treated with teriflunomide. Data on patient demographics, MS history, previous treatment, therapy satisfaction, and safety were collected.
RESULTS
In total, 752 patients were included (65% female) with a mean age (±standard deviation) of 43 ± 11 years. Sixty-six percent had DMT before, and 46% had discontinued their last pretreatment ≤6 months prior to study entry. Among the latter, previous DMTs were interferon (21%), glatiramer acetate (11%), and dimethyl fumarate (9%), and reasons for discontinuation were adverse events (AEs; 55%) and insufficient efficacy (16%). Over 24 months, the mean treatment Satisfaction Questionnaire for Medication scores improved by 6 ± 29 points on effectiveness, 8 ± 20 on convenience, and 12 ± 25 on global satisfaction. The mean number of MS relapses decreased from 0.81 ± 0.81 in the 24 months prior to 0.27 ± 0.57 within 24 months after study entry. Non-serious AEs occurred in 423 patients (56%) and serious AEs in 49 patients (7%). Most reported AEs were alanine aminotransferase increase (11%), hypertension (8%), and alopecia (7%). Compared to TAURUS-MS, patients in TAURUS-MS II were younger, had a higher employment rate, and a higher share of treatment-naïve patients.
CONCLUSION
Mean number of relapses was significantly reduced. Patient satisfaction was significantly improved compared to previous DMT. Tolerability was comparable to previous trials.
TRIAL REGISTRATION
Bundesinstitut für Arzneimittel und Medizinprodukte public database for non-interventional studies, number 7138.
PubMed: 38808094
DOI: 10.1177/17562864241252722 -
Journal of Cutaneous and Aesthetic... 2024Alopecia areata (AA) is an autoimmune disease characterized most commonly by patchy nonscarring hair loss which may progress to alopecia totalis which has poor...
Alopecia areata (AA) is an autoimmune disease characterized most commonly by patchy nonscarring hair loss which may progress to alopecia totalis which has poor prognosis. Platelet-rich plasma (PRP) therapy along with intralesional triamcinolone acetonide that is modified PRP proved to be beneficial in the case of alopecia totalis and helps in weaning patient off oral immunosuppression.
PubMed: 38800816
DOI: 10.4103/JCAS.JCAS_101_22 -
JAAD International Sep 2024Alopecia areata (AA) and atopic dermatitis (AD) are chronic skin diseases where the suboptimal medication adherence (MA) may result in poor clinical outcomes.
Adult patients with alopecia areata report a significantly better medication adherence compared to those with atopic dermatitis: Results from a large cross-sectional cohort study.
BACKGROUND
Alopecia areata (AA) and atopic dermatitis (AD) are chronic skin diseases where the suboptimal medication adherence (MA) may result in poor clinical outcomes.
OBJECTIVE
To assess the impact of AA on MA among adults compared to AD.
METHODS
Patient reported MA of adults with AA were compared with AD. Patients were identified from the Danish Skin Cohort, a nationwide prospective cohort of dermatological patients in Denmark. We used the Medication Adherence Report Scale- 5, a self-reporting questionnaire, to assess MA. Demographic and disease characteristics were collected. Logistic regression was conducted.
RESULTS
Patients with AA reported higher MA than AD (mean 21.81 vs 18.29). Logistic regression analyses showed AA diagnosis had a statistically significant positive effect on MA (odds ratio = 3.94, 95% CI 2.01-8.89). Men reported significantly higher MA (odds ratio = 1.49, 95% CI 1.14-1.94). Current disease severity did not impact MA.
LIMITATIONS
Data were self-reported by patients. Data regarding the specific treatment undergone by patients were not available.
CONCLUSION
Patients with AA have significantly higher MA compared to patients with AD. The stability of AA patients' symptoms may lead to higher MA due to a desire for disease control. Conversely, the sporadicity of AD symptoms could negatively affect adherence, causing fluctuations in medication use.
PubMed: 38800704
DOI: 10.1016/j.jdin.2024.03.026 -
Frontiers in Neuroscience 2024Alopecia intellectual disability syndromes 4 (APMR4) caused by Lanosterol synthase () gene variants is a very rare autosomal recessive neuroectodermal syndrome. It is...
Alopecia intellectual disability syndromes 4 (APMR4) caused by Lanosterol synthase () gene variants is a very rare autosomal recessive neuroectodermal syndrome. It is characterized by congenital alopecia and variable degrees of intellectual disability (ID), frequently associated with developmental delay (DD) and epilepsy. Currently, only three studies regarding -related APMR4 have been reported, the pathogenesis of APMR4 is poorly understood. We studied one patient with -related APMR4 who presented with severe intellectual disability, alopecia, early-onset epilepsy and developmental delay. She is absence of hair on the eyebrows, eyelashes, and scalp. Two novel variants (c.401 T > G and c.369C > G) were detected with whole-exome sequencing (WES). Analysis via WB experiment indicated that c.369 > G reduced the protein expression level of . Analysis of protein stability prediction showed a destabilizing for caused by the variant c.401 T > G. This study is the first study in Asia to date. These findings expanded the variantal spectrum of -related APMR4 and revealed the potential pathogenic mechanism of gene variants.
PubMed: 38800572
DOI: 10.3389/fnins.2024.1301865 -
Clinical, Cosmetic and Investigational... 2024Autophagy is recognized as a crucial regulatory process, instrumental in the removal of senescent, dysfunctional, and damaged cells. Within the autophagic process,... (Review)
Review
Autophagy is recognized as a crucial regulatory process, instrumental in the removal of senescent, dysfunctional, and damaged cells. Within the autophagic process, lysosomal digestion plays a critical role in the elimination of impaired organelles, thus preserving fundamental cellular metabolic functions and various biological processes. Mitophagy, a targeted autophagic process that specifically focuses on mitochondria, is essential for sustaining cellular health and energy balance. Therefore, a deep comprehension of the operational mechanisms and implications of autophagy and mitophagy is vital for disease prevention and treatment. In this context, we examine the role of autophagy and mitophagy during hair follicle cycles, closely scrutinizing their potential association with hair loss. We also conduct a thorough review of the regulatory mechanisms behind autophagy and mitophagy, highlighting their interaction with hair follicle stem cells and dermal papilla cells. In conclusion, we investigate the potential of manipulating autophagy and mitophagy pathways to develop innovative therapeutic strategies for hair loss.
PubMed: 38800357
DOI: 10.2147/CCID.S462294 -
Cureus Apr 2024Vogt-Koyanagi-Harada (VKH) disease is an idiopathic immune-related sickness that affects multiple systems and melanocytes in organs such as the uvea, ear, and meninges.... (Review)
Review
Vogt-Koyanagi-Harada (VKH) disease is an idiopathic immune-related sickness that affects multiple systems and melanocytes in organs such as the uvea, ear, and meninges. The primary cause of activity is cellular immunological responses. Vogt-Koyanagi disease is identified primarily by skin abnormalities and anterior uveitis. Harada's illness is distinguished by neurological symptoms and exudative retinal detachments, which are associated with the and genes. Pigmented races, such as Hispanics and Native Americans, are more likely to have VKH disease. Clinical features are blurred vision, floaters, alopecia, vitiligo, diffuse choroidal inflammation with disc edema, and exudative retinal detachment. Differential diagnoses include posterior scleritis, uveal effusion syndrome, central serous chorioretinopathy, and sympathetic ophthalmitis. The investigations used are optical coherence tomography (OCT), fundus fluorescein angiography (FA), and B-scan ultrasonography (USG). Treatment is done by using systemic steroids, cycloplegics, and immunosuppressants.
PubMed: 38800227
DOI: 10.7759/cureus.58867