Stevens-Johnsonov sindrom : prikaz slučaja neuobičajene alergije na autobus

Stevens-Johnson syndrome is an uncommon inflammatory skin disorder in which immune mechanisms, cytotoxic reactions, and delayed hypersensitivity seem to be involved. Herein, an unusual case with strange complaint of “bus allergy” is presented, suffering from severe generalized itching and skin lesions, followed by ulcers in his mouth and genitalia. The diagnosis of Stevens-Johnson syndrome was made and appropriate treatment was advised. However, detailed medical history revealed a completely different cause of his allergic reactions, as he had occasionally used dimenhydrinate because of motion sickness in his history. Therefore, adverse drug reaction to dimenhydrinate was considered as the main underlying cause of the disease. In conclusion, thorough medical history should be taken to make a definitive diagnosis and identify the underlying disease, since accurate diagnosis and appropriate treatment can prevent further complications.Stevens-Johnsonov sindrom je rijetka upalna bolest kože gdje se pretpostavlja da su uključeni imuni mehanizmi, citotoksične reakcije i odgođena preosjetljivost. Ovdje se prikazuje neuobičajen slučaj čudne “alergije na autobus” u bolesnika s teškim generaliziranim svrbežom i oštećenjima kože, nakon čega su nastali ulkusi u njegovim ustima i genitalijama. Kod bolesnika je dijagnosticiran Stevens-Johnsonov sindrom i preporučeno je odgovarajuće liječenje. Međutim, podrobna anamneza otkrila je potpuno drugi uzrok njegovih alergijskih reakcija, jer je povremeno uzimao dimenhidrat zbog bolesti pokreta u anamnezi. Stoga je zaključeno da je štetna reakcija na dimenhidrat bila glavni osnovni uzrok bolesti. Postavljanje konačne dijagnoze i utvrđivanje osnovne bolesti zahtijeva podrobno uzimanje anamneze, jer točna dijagnoza i primjereno liječenje mogu spriječiti daljnje komplikacije

Association Between Single Nucleotide Polymorphisms of the Interleukin-4 Gene and Atopic Dermatitis

ABSTRACT Atopic dermatitis (AD) is an inflammatory skin disease in which both genetic and environmental factors seem to be involved. Several studies investigated the association of certain genetic factors with AD in different ethnic groups, but conflicting data were obtained. This study was performed to check the possible association between single nucleotide polymorphisms (SNPs) of interleukin 4 (IL-4) and the IL-4 receptor α chain (IL-4Rα) and AD in a group of Iranian patients. The allele and genotype frequencies of genes encoding for IL-4 and IL-4Rα were investigated in 89 patients with AD in comparison with 139 healthy controls, using methods based on polymerase chain reaction sequence-specific primers. The most frequent alleles of IL-4 in patients were T at -1098 (P&lt;0.001, odds ratio (OR)=2.35), C at -590 (P&lt;0.001, OR=4.84) and C at -33 (P=0.002, OR=2.08). The most frequent genotypes of IL-4 in patients were TT, CC, and CC at positions -1098 (P&lt;0.001, OR=3.59), -590 (P&lt;0.001, OR=31.25) and -33 (P&lt;0.001, OR=3.46), respectively. We found a significant lower frequency of GT at -1098 GT, TC at -590, and TC at -33 in patients. There were no statistically significant differences in the frequency of alleles and genotypes of IL-4Rα gene at position +1902. A strong positive association was seen between TCC haplotype and AD (68% in patients vs. 23.4% in controls, P&lt;0.001, OR=8.91). We detected a significantly lower frequency of TTC, GCC, and TTT haplotypes (P&lt;0.001, OR=0.02, P&lt;0.001, OR=0.40, P&lt;0.001, OR=0.39, respectively) in patients compared to controls. A significant association between the polymorphisms of the IL-4 gene promoter at positions -1098, -590, and -33 and AD was detected in the Iranian population. Key words: atopic dermatitis; polymorphism, single nucleotide; interleukin-4 gene</p

Filaggrin Single Nucleotide Polymorphisms in Atopic Dermatitis

Atopic Dermatitis (AD) is a relapsing chronic pruritic inflammatory disease of skin in which no monogenic cause has been identified so far. Meanwhile Filaggrin (FLG) gene is considered as the most important gene associated with predisposition to the disease.One hundred and six patients with AD and 105 healthy individuals were enrolled in this study. Real time polymerase chain reaction was performed to determine frequencies of alleles and genotype in six variants of FLG gene.Atopic dermatitis (AD) is a relapsing chronic pruritic inflammatory disease of skin for which no monogenic cause has been identified so far. Meanwhile, the filaggrin (FLG) gene is considered as the most important gene associated with predisposition to the disease.One hundred and six patients with AD and 105 healthy individuals were enrolled in this study. Real time polymerase chain reaction was performed to determine frequencies of alleles and genotype in six variants of the FLG gene. The frequencies of allele A in variants of rs3126065, rs2786680, and rs1933063 as well as allele C in variant rs3814300 were 100%. There was no significant difference between allele frequencies in variants rs2485518 and rs3814299. The only genotypes in variants of rs3814299 and rs2485518 were GG and CC, respectively, with no significant difference between the patients and controls. This study demonstrated that there was no significant association between polymorphisms of FLG gene variants and AD.</p

Debilitating progressive encephalitis in a patient with BTK deficiency

X-linked agammaglobulinemia (XLA), also known as Bruton’s tyrosine kinase (BTK) deficiency, is a primary antibody deficiency, characterized by low number of B cells, agammaglobulinemia and increased susceptibility to a variety of infections. Herein, we report a case of XLA with confirmed BTK mutation that developed neurological deficits. While we could not detect any responsible microorganism in spite of comprehensive workup, brain magnetic resonance imaging revealed moderate brain atrophy. The diagnosis of progressive encephalitis was made for this patient. Patients with XLA have a higher chance of encephalitis compared with other primary antibody deficiencies. Given the violent nature of encephalitis, it is a concern among XLA patients

Filaggrin Single Nucleotide Polymorphisms in Atopic Dermatitis

Atopic Dermatitis (AD) is a relapsing chronic pruritic inflammatory disease of skin in which no monogenic cause has been identified so far. Meanwhile Filaggrin (FLG) gene is considered as the most important gene associated with predisposition to the disease.One hundred and six patients with AD and 105 healthy individuals were enrolled in this study. Real time polymerase chain reaction was performed to determine frequencies of alleles and genotype in six variants of FLG gene.Atopic dermatitis (AD) is a relapsing chronic pruritic inflammatory disease of skin for which no monogenic cause has been identified so far. Meanwhile, the filaggrin (FLG) gene is considered as the most important gene associated with predisposition to the disease.One hundred and six patients with AD and 105 healthy individuals were enrolled in this study. Real time polymerase chain reaction was performed to determine frequencies of alleles and genotype in six variants of the FLG gene. The frequencies of allele A in variants of rs3126065, rs2786680, and rs1933063 as well as allele C in variant rs3814300 were 100%. There was no significant difference between allele frequencies in variants rs2485518 and rs3814299. The only genotypes in variants of rs3814299 and rs2485518 were GG and CC, respectively, with no significant difference between the patients and controls. This study demonstrated that there was no significant association between polymorphisms of FLG gene variants and AD.</p

Superior hypogastric plexus block as an effective treatment method for endometriosis-related chronic pelvic pain: an open-label pilot clinical trial

We aimed to investigate the effect of superior hypogastric plexus (SHP) block on pain relief and quality of life of patients with refractory endometriosis. Sixteen patients with refractory endometriosis underwent SHP block. The outcome measures included visual analogue scale (VAS) for chronic pelvic pain, VAS for dysmenorrhoea, and VAS for dyspareunia. The short-form endometriosis health profile (EHP-5) was used to measure quality of life. All the outcome measures were evaluated at weeks 0, 1, 4, 12 and 24. The mean baseline VAS scores significantly improved after the SHP block (p < .001 for all). The mean overall EHP-5 score also significantly improved from 54.3 ± 18.2 to 24.6 ± 13.3 (p < .001). The positive effects of SHP were not diminished over time. No serious adverse effect was noticed in any of the patients. Preliminary results suggest that SHP block could be used as an effective method in pain control and improvement of quality of life in refractory endometriosis.IMPACT STATEMENT What is already known on this subject? Safety and efficacy of SHP block in the treatment of CPP has been revealed in earlier investigations. However, the efficacy of SHP block for pain management in patients with refractory endometriosis has not been investigated in earlier investigations. What do the results of this study add? SHP block is an effective method for pain control and improvement of quality of life in patients with refractory endometriosis. The positive effects of this treatment did not diminish over 24-weeks follow-up of the study. No serious adverse effect was noticed in any of the patients. What are the implications of these findings for clinical practice and/or further research? Preliminary results suggest that SHP block could be used safely and effectively for controlling pain and improvement of quality of life in patients with refractory endometriosis