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1.
Dermatol Surg ; 50(3): 267-271, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38113179

RESUMEN

BACKGROUND: Triamcinolone acetate injections are considered the first treatment option for keloids, but quite high proportions of keloids either do not respond to triamcinolone or develop recurrence. Beneficial effects of intralesional bleomycin have been recently shown in the treatment of keloids and hypertrophic scars. However, the efficacy of combination therapy using intralesional triamcinolone and bleomycin remains undetermined. OBJECTIVE: The purpose of this study was to evaluate the efficacy of using bleomycin and triamcinolone mixture to treat refractory keloids. MATERIALS AND METHODS: In total, 33 patients with resistant keloids (including 8 men and 25 women) and a mean age of 36.52 years (age range of 18-65 years) were enrolled in this study. A mixture of bleomycin (1 u/cc) with triamcinolone acetonide (13.3 mg/cc) was injected intralesionally into the keloids every 4 to 6 weeks for a maximum of 6 cycles. The clinical improvement was evaluated using the Japan Scar Scale (JSS) and the physician's global assessment of the flattening of the lesions. Side effects were also noted and recorded. RESULTS: In all patients, the total JSS scores decreased significantly after treatment (2.33 ± 1.05), compared with baseline (11.61 ± 2.59), ( p < .001); 26 keloids (78.8%) showed an excellent response (75%-100% flattening), 7 keloids (21.2%) showed a fair response (25%-75% flattening), and 0 keloids (0%) showed a poor response (<25% flattening). Observed side effects were ulceration (33.3%), hyperpigmentation (33.3%), hypopigmentation (15.15%), secondary infection (33.3%), and telangiectasis (15.15%). CONCLUSION: The combined use of bleomycin and triamcinolone offers a promising treatment option for individuals who have not responded well to traditional therapies.


Asunto(s)
Cicatriz Hipertrófica , Queloide , Masculino , Humanos , Femenino , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Queloide/tratamiento farmacológico , Triamcinolona Acetonida/efectos adversos , Cicatriz Hipertrófica/tratamiento farmacológico , Bleomicina/efectos adversos , Terapia Combinada
2.
Skin Res Technol ; 29(9): e13471, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37753692

RESUMEN

BACKGROUND: Burns are caused by a variety of mechanisms, including flames, hot liquids, metallurgy, chemicals, electric current, and ionizing and non-ionizing radiation. The most significant burn wound management involves complete repair and regeneration as soon as possible while minimizing infection, contraction, and scarring in the damaged tissue area. Some factors such as delivery of nutrients, growth factors, and oxygen are essential to promote and stimulate the wound healing progress in the burns area. When these factors are not provided, the burn wound undergoes a physiological crisis. The use of growth factors is a promising approach to overcoming this limitation. Umbilical cord blood platelet concentrates are a rich natural source of growth factors. METHODS: This clinical trial used growth factors released from the lysis of umbilical cord blood platelet concentrates that have a key role in promoting re-epithelization and regeneration of damaged tissues by forming a fibrin network. This study evaluated the effectiveness of allogeneic cord blood platelet gel topical dressing in a group of patients diagnosed with superficial and deep partial thickness (second-degree) burn wounds. Clinical outcomes were compared between the intervention group and a control group of patients with superficial second-degree burn wounds who received the standard routine treatment including paraffin gauze wound dressing and silver sulfadiazine ointment. RESULTS: The study's results showed that the increased rate of recovery and tissue granulation completely promoted to wound healing and burn wound closure, decreased the recovery time, and reduced inflammation and scars caused by burn injuries. However, the use of cord blood platelet gel topical dressing is not currently a routine treatment method in patients suffering from burn wounds. However, the study's results showed that allogenic cord blood platelet gel could be used to treat superficial and deep second-degree burns as a routine treatment. It was also shown that allogenic cord blood platelet gel topical dressing could be a candidate for autograft or after autograft skin transplantation surgery (in donor and recipient sites) instead of skin surgery in some patients. CONCLUSION: Allogeneic topical wound dressing provides an effective treatment that offers a faster rate of epithelialization and healing of wounds and also decreases patients' scar and inflammation level as well as the length of recovery time. This, finally, leads to better burn wound management and the improved quality of burn wound treatment.


Asunto(s)
Plaquetas , Trasplante de Células Madre Hematopoyéticas , Humanos , Cicatriz , Piel , Vendajes
3.
Hum Mutat ; 43(12): 1706-1731, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35815343

RESUMEN

Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N-terminal domain, the Rod domain, and the C-terminal domain. Molecular defects of PLEC correlating with the functional aspects lead to a group of rare heritable disorders, plectinopathies. These multisystem disorders include an autosomal dominant form of epidermolysis bullosa simplex (EBS-Ogna), limb-girdle muscular dystrophy (LGMD), aplasia cutis congenita (ACC), and an autosomal recessive form of EBS, which may associate with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA), and/or congenital myasthenic syndrome (EBS-MyS). In this study, genotyping of over 600 Iranian patients with epidermolysis bullosa by next-generation sequencing identified 15 patients with disease-causing PLEC variants. This mutation update analyzes the clinical spectrum of PLEC in our cohort and in the literature and demonstrates the relationship between PLEC genotype and phenotypic manifestations. This study has integrated our seven novel PLEC variants and phenotypic findings with previously published data totaling 116 variants to provide the most complete overview of pathogenic PLEC variants and related disorders.


Asunto(s)
Epidermólisis Ampollosa Simple , Distrofia Muscular de Cinturas , Distrofias Musculares , Humanos , Irán , Epidermólisis Ampollosa Simple/genética , Epidermólisis Ampollosa Simple/patología , Distrofia Muscular de Cinturas/genética , Distrofias Musculares/genética , Mutación , Plectina/genética
4.
Dermatol Ther ; 35(12): e15932, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36226796

RESUMEN

The treatment of chronic urticaria (CU) is difficult, currently, antihistamines (AH) are the mainstay of treatment, however, up to 40% of patients do not respond to even high (four-fold) daily doses of AH. Tofacitinib is, a small-molecule that blocks JAK1/3 and inhibits intracellular signaling of multiple key cytokines involved in the inflammatory cascade and its beneficial effects were reported in patients with mast cell activation disease but there is no report in patients with urticaria. Here, we present four cases of refractory CU and one case of urticarial vasculitis (UV) that were managed with tofacitinib. Despite the long-term unresponsiveness of various treatments in our patients, the addition of tofacitinib significantly improved the urticarial activity and ultimately led to tapering and discontinuation of cyclosporine or AH. In conclusion, tofacitinib appears to downregulate inflammatory phenomena associated with mast cells and might be a new therapeutic option for patients with refractory CU or UV.


Asunto(s)
Urticaria Crónica , Urticaria , Vasculitis , Humanos , Antagonistas de los Receptores Histamínicos/uso terapéutico , Urticaria/diagnóstico , Urticaria/tratamiento farmacológico , Vasculitis/tratamiento farmacológico , Femenino , Adulto , Persona de Mediana Edad
5.
Dermatol Ther ; 35(7): e15515, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35420725

RESUMEN

Recessive dystrophic epidermolysis bullosa (RDEB) manifests with blistering and erosions of the skin and mucous membranes due to mutations in COL7A1. The repetitive wound healing processes lead to extensive cutaneous scarring. The scarring is driven by inflammatory processes, particularly the TGF-ß signaling pathways, resulting in excess synthesis and deposition of the extracellular matrix, especially collagen. There is currently no effective or specific treatment for RDEB. Losartan, an angiotensin II type 1 receptor antagonist, is an inhibitor of TGF-ß activity. Previous preclinical studies with hypomorphic Col7a1 mice recapitulating features of RDEB have suggested that losartan may improve the clinical features of RDEB. In this case series, we assessed the effects of losartan on the clinical and histopathologic features in seven patients with RDEB; three females and four males; aged 18.1 ± 9.1 years. The diagnosis was based on characteristic clinical features and the presence of biallelic loss-of-function mutations in COL7A1. Daily oral administration of losartan (0.7 mg/kg) for six weeks resulted in subjective improvement of the clinical features, as judged by the treating physicians and the patients, and the severity of the disease objectively improved based on Birmingham Epidermolysis Bullosa Severity (BEBS) score (30.1 ± 12.8 versus 23.3 ± 10.4, before and after treatment, p = 0.018), accompanied by improvement of quality of life, as determined by the EB-QoL questionnaire (24.0 ± 8.1 versus 17.7 ± 5.5, p = 0.018). Histopathology of the selected lesions revealed after treatment increased number of mast cells, and enhanced microvasculature in the mid and lower dermis. The width of collagen bundles in dermis was suggested to be decreased in four samples and changed from dense to loose in appearance. In summary, this case series reports beneficial effects of losartan on RDEB as a potentially novel treatment.


Asunto(s)
Epidermólisis Ampollosa Distrófica , Animales , Cicatriz/patología , Colágeno , Colágeno Tipo VII/genética , Epidermólisis Ampollosa Distrófica/diagnóstico , Epidermólisis Ampollosa Distrófica/tratamiento farmacológico , Epidermólisis Ampollosa Distrófica/genética , Femenino , Losartán/uso terapéutico , Masculino , Ratones , Calidad de Vida , Factor de Crecimiento Transformador beta
6.
Adv Exp Med Biol ; 1367: 119-135, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35286694

RESUMEN

Lichen planus (LP) is a multifaceted autoimmune disease affecting the skin, nails, hair, and mucous membranes, with several clinical subgroups. Cell-mediated immunity plays a key role in its progression. This chapter reviews the known genetic associations of lichen planus including HLA as well as non-HLA genes.


Asunto(s)
Enfermedades Autoinmunes , Liquen Plano , Cabello , Humanos , Inmunogenética , Liquen Plano/genética , Piel
7.
BMC Microbiol ; 21(1): 282, 2021 10 18.
Artículo en Inglés | MEDLINE | ID: mdl-34657594

RESUMEN

BACKGROUND: The most common clinical manifestations of Staphylococcus aureus strains in the community are skin and soft-tissue infections. S. aureus could colonize the body sites and complicate the pathogenesis of skin diseases. S. aureus colonization is a risk factor for severe conditions such as bone and joint infections, pneumonia, bacteremia, and endocarditis. This study aimed to investigate the prevalence of S. aureus strains in skin and soft tissue infections and other skin disorders in patients referring to dermatology clinics and to evaluate the antibiotic resistance pattern and molecular characteristics of S. aureus isolates. METHODS: Skin swabs were collected from the lesional sites in 234 outpatients referring to dermatology clinics in three hospitals in Tehran. Antibiotic susceptibility, biofilm formation, and hemolysis tests were performed for isolates. PCR was done for SCCmec typing, agr grouping, and virulence genes detecting. RESULTS: The prevalence of S. aureus strains among patients with skin and soft-tissue infections and other skin lesions was 44.77% (30/67) and 44.91% (75/167), respectively. Also, 59 (56.19%) isolates were MRSA, 35.57% were HA-MRSA, and 30.5% were CA-MRSA. The psmα gene was more prevalent (62.8%) among isolates, followed by hlaα (56.1%), tsst-1 (15.2%) eta (13.3%), etb (6.6%), and pvl (2.8%). The agr specificity groups I, II, III, and IV were identified in 49.5, 21.9, 11.4, and 14.2% of S. aureus isolates, respectively. Most (56%) S. aureus isolates produced a moderate biofilm, and 23.8% of them produced strong biofilms. α-hemolysin (46.6%), ß-hemolysin (25.7%), γ-hemolysin (19%), and both α and ß-hemolysin (5.7%) were also produced by isolates. CONCLUSION: The present study results indicated high colonization of skin lesions by HA-MRSA and CA-MRSA clones; MRSA strains were more resistant to antibiotics, contained various toxin genes, and were able to form biofilms. Therefore, they could play a vital role in the pathogenesis of various skin diseases; also, they could spread and cause infections in other body sites. Eradication and decolonization strategies could prevent recurrent infections and the spread of resistant strains and improve skin conditions.


Asunto(s)
Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Infecciones de los Tejidos Blandos/microbiología , Infecciones Cutáneas Estafilocócicas/microbiología , Antibacterianos/farmacología , Biopelículas/crecimiento & desarrollo , Farmacorresistencia Bacteriana/efectos de los fármacos , Farmacorresistencia Bacteriana/genética , Femenino , Genes Bacterianos/genética , Hemólisis , Humanos , Irán/epidemiología , Masculino , Staphylococcus aureus Resistente a Meticilina/efectos de los fármacos , Staphylococcus aureus Resistente a Meticilina/genética , Staphylococcus aureus Resistente a Meticilina/fisiología , Pruebas de Sensibilidad Microbiana , Prevalencia , Infecciones de los Tejidos Blandos/epidemiología , Infecciones Estafilocócicas , Infecciones Cutáneas Estafilocócicas/epidemiología , Staphylococcus aureus/efectos de los fármacos , Staphylococcus aureus/genética , Staphylococcus aureus/aislamiento & purificación , Staphylococcus aureus/fisiología , Virulencia/genética , Adulto Joven
8.
Wound Repair Regen ; 29(1): 134-143, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33009688

RESUMEN

Epidermolysis bullosa (EB) is a rare genetic disorder characterized by the formation of blisters and wounds in skin and mucous membranes; it is classified into four types and has various methods of treatment. Management of previous wounds and prevention of formation of new lesions are the most important strategies in the course of therapy to improve patient's quality of life; lack of wound management can lead to further complications such as infection. The current study investigated the therapeutic effects of allogeneic platelet gel (prepared from umbilical cord blood) in a group of children diagnosed with dystrophic epidermolysis bullosa (DEB) eligible for surgical correction of pseudosyndactyly in the hand. The post-surgical clinical outcome in this group was compared with the clinical outcomes of DEB patients receiving the standard treatment (paraffin gauze wound dressing and topical antibiotics) after corrective surgery. The current study results showed an increase in the rate of recovery and promotion of tissue granulation, complete wound healing, and a decrease in pain level and treatment period. The application of cord blood platelet gel topical dressing was not a conventional method of treatment in patients with DEB wounds and blisters. However, the current study results demonstrated that this gel dressing could effectively accelerate epithelialization and healing of the wounds and decrease patients' pain and post-surgical recovery period, which altogether leads to improvements in patients' overall quality of life.


Asunto(s)
Plaquetas , Trasplante de Células/métodos , Epidermólisis Ampollosa Distrófica/terapia , Sangre Fetal/trasplante , Calidad de Vida , Cicatrización de Heridas/fisiología , Heridas y Lesiones/terapia , Epidermólisis Ampollosa Distrófica/complicaciones , Femenino , Geles , Humanos , Lactante , Masculino , Trasplante Autólogo , Heridas y Lesiones/diagnóstico , Heridas y Lesiones/etiología
9.
Dermatol Ther ; 34(1): e14550, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33200859

RESUMEN

Vitiligo is a common skin disorder with an estimated worldwide prevalence to 2.28% which is connected with selective melanocytes loss which leads to depigmentation and chalky-white macules. Vitiligo may be dismissed as a cosmetic problem and may have psychologic impacts on patients. It is occurring in both children and adults and is considered as the most common depigmenting skin disorder in the world. There are still many unknown topics about this disease regarding to its treatment in pediatrics, curable drugs and manifestations. Therefore, we decided to evaluate the recent studies about its therapeutic strategies in pediatrics. Topical therapies should be considered as first line treatment in children, but phototherapy especially NBUVB may be used after topical treatment modalities failure or in extensive or rapidly progressive disease. Our suggestion for the treatment of this disease in children is to use combine treatment modalities with observing safety according to the patient's age.


Asunto(s)
Hipopigmentación , Pediatría , Vitíligo , Adulto , Niño , Humanos , Melanocitos , Fototerapia , Vitíligo/diagnóstico , Vitíligo/terapia
10.
Skin Pharmacol Physiol ; 34(6): 337-350, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34404045

RESUMEN

BACKGROUND: The chronicity of psoriasis often requires continuous topical treatment. MATERIALS AND METHODS: Here, the radical protection of a cream containing various herbal oils was evaluated in vivo by electron paramagnetic resonance (EPR) spectroscopy and its skin penetration by Raman microscopy in intact and barrier-disturbed skin. Changes in skin barrier properties were evaluated after 4 weeks of daily topical application using in vivo laser scanning microscopy (LSM) and transepidermal water loss in 26 healthy volunteers. A randomized, controlled, double-blind, three-arm parallel clinical study evaluated the efficacy of the herbal oil cream compared to a 0.05% calcipotriol-containing cream and to a vehicle cream, in 135 patients with mild to moderate plaque psoriasis with the change in Psoriasis Area and Severity Index (PASI) from baseline to week 12 as the primary endpoint. RESULTS: EPR spectroscopy disclosed a significantly higher radical formation in untreated than skin treated with the herbal oil cream (p ≤ 0.05). LSM measurements indicated a protective skin barrier effect in treated compared to untreated skin. In the clinical trial, the topical application of herbal oils showed a significant reduction of the PASI score compared to topical calcipotriol at week 12 (p = 0.016). The mean reduction in PASI was 49% for the herbal oil cream, 38% for calcipotriol, and 55% for the vehicle cream. The percentage of patients, who reached PASI 50 and 75 at any time point, was 55.9% and 29.4% for the herbal oil cream, 47.4% and 15.8% for calcipotriol, and 23 (60.5%) and 13 (34.2%) for the vehicle, respectively (p > 0.05). The vehicle, originally designed as a placebo, contained a main ingredient of the herbal oil cream and therefore showed corresponding results. CONCLUSION: The herbal oil cream demonstrated effectiveness in the treatment of mild to moderate plaque psoriasis.


Asunto(s)
Fármacos Dermatológicos , Psoriasis , Calcitriol/análogos & derivados , Fármacos Dermatológicos/uso terapéutico , Método Doble Ciego , Humanos , Aceites , Psoriasis/tratamiento farmacológico , Índice de Severidad de la Enfermedad , Resultado del Tratamiento
11.
Int J Mol Sci ; 22(17)2021 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-34502144

RESUMEN

Impaired wound healing in people with diabetes has multifactorial causes, with insufficient neovascularization being one of the most important. Hypoxia-inducible factor-1 (HIF-1) plays a central role in the hypoxia-induced response by activating angiogenesis factors. As its activity is under precise regulatory control of prolyl-hydroxylase domain 2 (PHD-2), downregulation of PHD-2 by small interfering RNA (siRNA) could stabilize HIF-1α and, therefore, upregulate the expression of pro-angiogenic factors as well. Intracellular delivery of siRNA can be achieved with nanocarriers that must fulfill several requirements, including high stability, low toxicity, and high transfection efficiency. Here, we designed and compared the performance of layer-by-layer self-assembled siRNA-loaded gold nanoparticles with two different outer layers-Chitosan (AuNP@CS) and Poly L-arginine (AuNP@PLA). Although both formulations have exactly the same core, we find that a PLA outer layer improves the endosomal escape of siRNA, and therefore, transfection efficiency, after endocytic uptake in NIH-3T3 cells. Furthermore, we found that endosomal escape of AuNP@PLA could be improved further when cells were additionally treated with desloratadine, thus outperforming commercial reagents such as Lipofectamine® and jetPRIME®. AuNP@PLA in combination with desloratadine was proven to induce PHD-2 silencing in fibroblasts, allowing upregulation of pro-angiogenic pathways. This finding in an in vitro context constitutes a first step towards improving diabetic wound healing with siRNA therapy.


Asunto(s)
Inductores de la Angiogénesis/metabolismo , Angiopatías Diabéticas/metabolismo , Oro , Hipoxia/metabolismo , Lisosomas , Nanopartículas , ARN Interferente Pequeño/genética , Animales , Supervivencia Celular , Fenómenos Químicos , Angiopatías Diabéticas/etiología , Angiopatías Diabéticas/patología , Composición de Medicamentos , Endosomas/metabolismo , Técnicas de Transferencia de Gen , Hipoxia/genética , Loratadina/análogos & derivados , Loratadina/química , Loratadina/farmacología , Ratones , Células 3T3 NIH , Nanopartículas/química , ARN Interferente Pequeño/administración & dosificación
12.
Dermatol Ther ; 33(6): e13842, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32535953

RESUMEN

The pathogenesis of frontal fibrosing alopecia (FFA) is still unknown while hormonal factors have been postulated to play a role. There is scarce evidence with divergent results on the role of sex hormones in FFA. To evaluate the possible association between sex hormone levels and FFA, this study included 30 female cases of FFA and 34 healthy controls. Serum free testosterone, dehydroepiandrosterone sulfate (DHEAS), Luteinizing hormone (LH), follicle-stimulating hormone (FSH), 17-OH progesterone, androstenedione, and prolactin levels were measured in all subjects. Median and interquartile ranges of DHEAS and androstenedione were 79.26 (52.91-195.50) and 1.41 (0.90-2.29) in patients and 152.34 (81.72-218.63) and 2.31 (1.54-2.84) in healthy controls, respectively. The serum levels of DHEAS and androstenedione were significantly lower in FFA patients in comparison with healthy controls (P-value = .038 and .012, respectively). There were no significant differences in serum levels of free testosterone, LH, FSH, 17-OH progesterone, and prolactin between the FFA group and the control group The lower serum levels of DHEAS and androstenedione in FFA patients compared to controls is supporting a new growing concept of the low androgen level theory in the pathogenesis FFA, while the exact mechanism, clinical significance, and also the potential therapeutic effects of these hormones in FFA remain to be determined in future studies.


Asunto(s)
Alopecia , Hormona Luteinizante , Globulina de Unión a Hormona Sexual , Alopecia/diagnóstico , Estudios de Casos y Controles , Sulfato de Deshidroepiandrosterona , Femenino , Hormonas Esteroides Gonadales , Humanos
13.
Dermatol Ther ; 33(6): e14493, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33136289

RESUMEN

Keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the GJB2 gene encoding connexin 26, a component of transmembrane hemichannels which form gap junction channels, critical for cell-cell communication. Here, we report two patients from two distinct families with KID syndrome with the same GJB2 mutation (p.Asp50Asn); in both cases the mutation was de novo, as the parents depicted the wild-type allele only. The patients' cutaneous manifestations were strikingly different illustrating the wide spectrum of phenotype of these patients, even with the same GJB2 mutation. One of the patients was treated with acitretin with dramatic improvement in his skin findings, illustrating the role of oral acitretin in treatment of patients with KID syndrome. Collectively, these patients attest to the phenotypic spectrum of KID syndrome, with therapeutic perspective.


Asunto(s)
Sordera , Ictiosis , Queratitis , Conexina 26/genética , Sordera/diagnóstico , Sordera/tratamiento farmacológico , Sordera/genética , Humanos , Ictiosis/diagnóstico , Ictiosis/tratamiento farmacológico , Ictiosis/genética , Queratitis/diagnóstico , Queratitis/tratamiento farmacológico , Queratitis/genética , Mutación , Fenotipo
14.
Hum Mutat ; 40(3): 288-298, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30578701

RESUMEN

Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non-syndromic Mendelian disorders of keratinization, is caused by mutations in as many as 13 distinct genes. We examined a cohort of 125 consanguineous families with ARCI for underlying genetic mutations. The patients' DNA was analyzed with a gene-targeted next generation sequencing panel comprising 38 ichthyosis associated genes. The interpretations of results of genomic data were assisted by genome-wide homozygosity mapping and transcriptome sequencing. Sequence data analysis identified biallelic mutations in 106 families out of a total of 125 (85%), most of them (102, 96.2%) being homozygous, reflecting consanguinity in these families. Among the 85 distinct mutations in 10 different genes, 45 (53%) were previously unreported. Phenotype-genotype correlations allowed assignment of specific genes in the majority of the families to a specific subtype of ARCI, lamellar ichthyosis (LI) versus congenital ichthyosiform erythroderma (CIE). Interestingly, mutations in several genes could give rise to an overlapping phenotype consistent with either LI or CIE. Also, this is the third report for SDR9C7 and SULT2B1, and fourth report for CERS3 mutations. Direct comparison of our results with previously published regional cohorts highlights the global mutation landscape of ARCI, however, population specific differences were noted.


Asunto(s)
Consanguinidad , Genes Recesivos , Genoma Humano , Ictiosis Lamelar/genética , Secuencia de Bases , Estudios de Cohortes , Familia , Femenino , Homocigoto , Humanos , Ictiosis Lamelar/diagnóstico , Masculino , Mutación , Linaje , Fenotipo , Sitios de Empalme de ARN/genética
15.
J Hepatol ; 71(2): 366-370, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-30954460

RESUMEN

BACKGROUND & AIMS: Non-alcoholic fatty liver disease (NAFLD) is a multifactorial condition and the most common liver disease worldwide, affecting more than one-third of the population. So far there have been no reports on mendelian inheritance in families with NAFLD. METHODS: We performed whole-exome or targeted next-generation sequencing on patients with autosomal dominant NAFLD. RESULTS: We report a heritable form of NAFLD and/or dyslipidemia due to monoallelic ABHD5 mutations, with complete clinical expression after the fourth decade of life, in 7 unrelated multiplex families encompassing 39 affected individuals. The prevalence of ABHD5-associated NAFLD was estimated to be 1 in 1,137 individuals in a normal population. CONCLUSION: We associate a Mendelian form of NAFLD and/or dyslipidemia with monoallelic ABHD5 mutations. LAY SUMMARY: Non-alcoholic fatty liver disease (NAFLD) is a common multifactorial disorder with a strong genetic component. Inherited forms of NAFLD have been suspected but, their molecular pathogenesis has not been disclosed. Here we report a heritable form of NAFLD with clinical expression after 40 years of age, associated with monoallelic ABHD5 mutations.


Asunto(s)
1-Acilglicerol-3-Fosfato O-Aciltransferasa/genética , Dislipidemias/genética , Predisposición Genética a la Enfermedad , Mutación , Enfermedad del Hígado Graso no Alcohólico/genética , Adulto , Anciano , Alelos , Dislipidemias/complicaciones , Femenino , Frecuencia de los Genes , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Persona de Mediana Edad , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Linaje , Prevalencia , Secuenciación del Exoma , Adulto Joven
16.
Scand J Immunol ; 89(1): e12730, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30375024

RESUMEN

All stages of the inflammatory process involved in T cell-mediated chronic skin disorders like psoriasis are affected by redox imbalance. On the other hand, Th17 cells have a critical role in the pathogenesis of psoriasis. In this study, we evaluated redox status in memory CD4 + T cells and plasma of patients with psoriasis and its correlation with IL-17 response. To this end, memory T cells were isolated from 10 patients with psoriasis and 10 controls. Intracellular Glutathione (GSH), reactive oxygen species (ROS) and superoxide as well as IL-17 were measured using flow cytometry. Plasma total anti-oxidant capacity (TAC) was quantified by ferric reducing ability of plasma (FRAP) assay. The expression of catalase (CAT), superoxide dismutase 1(SOD1), superoxide dismutase 2 (SOD2), nuclear factor, erythroid 2 like 2 (NFE2L2) and cytochrome b-245 beta chain (CYBB) genes were analysed using real-time PCR. Our results showed an increased intracellular ROS production in memory CD4 + T cells of patients compared to controls, (P = 0.04). Furthermore, a significant decrease in expression of catalase gene was found in patients, (P = 0.02). However, no significant differences were observed for intracellular GSH, IL-17 and TAC levels between patients and controls. Also, no correlation was seen between the intracellular IL-17 level and intracellular ROS, GSH and catalase gene expression levels. Collectively, we found an increased ROS production in stimulated memory T cells of patients that could be due to reduced expression of catalase gene. However, it seems that these redox abnormalities have no relationship with IL-17 response in memory T cells.


Asunto(s)
Memoria Inmunológica/inmunología , Interleucina-17/inmunología , Psoriasis/inmunología , Células Th17/inmunología , Adolescente , Adulto , Linfocitos T CD4-Positivos/inmunología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Oxidación-Reducción , Adulto Joven
17.
Dermatol Ther ; 32(2): e12796, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30520195

RESUMEN

Recently, advances in understanding the etiology of urticaria and updates of diagnostic and therapeutic management guidelines have drawn attention to chronic urticaria (CU) morbidity. The present study aimed to evaluate Iranian dermatologists' practice and real life management of CU patients. A total of 35 dermatologists and 443 patients were included in the study. Number of female patients was 321 (72.5%). Mean (standard deviation) age of the study patients was 38 (13) years and the median (inter quartile range) of disease duration was 12 (6-48) months. Severity of patients' symptoms was mild for 32.1%, moderate for 38.7%, severe for 18.8%, and 10.4% of them had no evident signs or symptoms. The most common diagnostic methods were physical examination (96.6%), differential blood count (83.5%), erythrocyte sedimentation rate (77.4%), and C-reactive protein (62.8%). The number of dermatologists prescribed nonsedating antihistamines (nsAH) in regular dose and high dose mono therapy were 26 (74%) and 6 (17%), respectively. About 66% of dermatologists were familiar with British Association of Dermatologists (BAD) guideline. The most common first-line treatment for CU by Iranian dermatologists was nonsedating antihistamines in regular or high doses. The real-life management of patients with CU in Iran was in accordance with the available practice guidelines.


Asunto(s)
Dermatólogos/estadística & datos numéricos , Antagonistas de los Receptores Histamínicos H1 no Sedantes/administración & dosificación , Pautas de la Práctica en Medicina/estadística & datos numéricos , Urticaria/tratamiento farmacológico , Adulto , Enfermedad Crónica , Estudios Transversales , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Irán , Masculino , Persona de Mediana Edad , Guías de Práctica Clínica como Asunto , Índice de Severidad de la Enfermedad , Urticaria/diagnóstico , Adulto Joven
18.
Health Care Women Int ; 40(5): 527-538, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30412044

RESUMEN

In this cross-sectional study, we aimed to investigate psychometric properties of the Persian versions of condom use self-efficacy (CUSES), attitude toward condom use (ATCUS), and sexually transmitted infection risk perception (STIsRP) scales among Iranian female sex workers (FSWs). We translated original versions of the scales into Persian, and through census, recruited and interviewed 140 FSWs. Appropriate validity, reliability, functionality and simplicity were demonstrated for the scales. We found the measurement model with a good fit to the data (χ2 [104] = 89.537, p < .01, CFI = 0.978, NFI = 0.931, TLI = 0.981, RMSEA = 0.055 [0.023-0.081]). Our findings supported the applicability of the Persian CUSES, ATCUS, and STIsRP in the Iranian and other Persian-speaking FSW populations.


Asunto(s)
Condones/estadística & datos numéricos , Conocimientos, Actitudes y Práctica en Salud , Psicometría/normas , Autoeficacia , Trabajadores Sexuales/psicología , Conducta Sexual/psicología , Enfermedades de Transmisión Sexual/prevención & control , Encuestas y Cuestionarios/normas , Adulto , Estudios Transversales , Femenino , Infecciones por VIH/prevención & control , Humanos , Irán , Percepción , Psicometría/estadística & datos numéricos , Reproducibilidad de los Resultados , Asunción de Riesgos , Trabajo Sexual/estadística & datos numéricos , Trabajadores Sexuales/estadística & datos numéricos , Conducta Sexual/estadística & datos numéricos , Traducción
19.
Med J Islam Repub Iran ; 33: 90, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31696084

RESUMEN

Background: Data types are recurrent events in studies in which each person may experience an event at different times. One of the most popular approaches to analyze recurrent event data is obtaining an estimate of the means/rate of events at different times. In this context, determining the variability over time can help better understand the effect of factor on the response. In this study, we applied smoothing methods to estimate coefficients in time-dependent rate model, and we also showed its application in data of psoriasis patients. Methods: In the present study, psoriasis patients who experienced relapse that led to hospitalization during 2005 and 2014 in the Dermatology Department of Imam Khomeini hospital in Tehran were examined. To investigate the rate of relapse during a year, time-dependent rate model was used and variability of the effects was assessed using Wald test. Both b-spline and kernel methods were used to estimate time varying coefficients in rates model. Finally, results from methods were compared based on the obtained estimates. Results: Based on the results of the Wald test, the effect of season on the occurrence of psoriasis was significantly different (p<0.01). Also according to the estimated coefficients from both b-spline and kernel methods, there was little difference between them. Conclusion: In situations in which the effect of a variable is different at different times, using time-dependent coefficients rate model can lead to a better estimate of the effect of variable on the response. On the other hand, smoothing methods can smooth the effects of the variables that vary over time.

20.
Gen Dent ; 64(3): e10-3, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27148665

RESUMEN

Pemphigus vulgaris (PV) is considered a chronic disease with a potentially fatal outcome. Studies have suggested that environmental factors and personal habits play an important role in the pathogenesis of PV, but more studies are required to elaborate their connection to the disease. The goal of this multicenter case-control study was to determine some of the environmental factors related to PV. Cases (n = 99) were patients with PV, and controls (n = 198) were individuals who did not have PV. Data about demographics, history, clinical findings, occupational exposures to pesticides, smoking status, number of births (parity), herpes simplex virus (HSV) infection, and fast food consumption were collected using a structured questionnaire. Chi-square and logistic regression analyses were used for data analysis. Univariate logistic regression analysis indicated that the statistically significant factors related to PV were infection with HSV in recent weeks (odds ratio [OR], 3.35; 95% confidence interval [CI], 1.75-6.43), parity (OR, 0.50; 95% CI, 0.39-0.63), and lack of occupational exposure to pesticides (OR, 0.36; 95% CI, 0.21-0.60). Multivariate analysis revealed that significant factors were cessation of smoking (adjusted odds ratio [AOR], 4.36; 95% CI, 1.50-12.66), HSV infection (AOR, 2.91; 95% CI, 1.47-5.75), and lack of occupational exposure to pesticides (AOR, 0.35; 95% CI, 0.20-0.63). The findings indicated that cessation of smoking and HSV infection in recent weeks are risk factors for PV, while lack of occupational exposure to pesticides and increasing parity (a greater number of births) are protective factors against PV.


Asunto(s)
Enfermedades de la Boca/etiología , Pénfigo/etiología , Adulto , Estudios de Casos y Controles , Comida Rápida/efectos adversos , Femenino , Herpes Simple/complicaciones , Humanos , Masculino , Exposición Profesional/efectos adversos , Paridad , Plaguicidas/efectos adversos , Factores de Riesgo , Fumar/efectos adversos , Encuestas y Cuestionarios
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