RESUMO
AIM: The aim of our study was to determine the genetic associations between polymorphisms of the TNFα gene (-308G/A and -238G/A) with disease susceptibility and severity in patients with rheumatoid arthritis (RA) in an ethnic Kashmiri population. METHODS: Allele and genotype frequencies of TNFα-308G/A and TNFα-238G/A polymorphisms were compared between 150 RA patients and 200 healthy controls by using polymerase chain reaction - restriction fragment length polymorphism method. Demographic, clinical and serological data were prospectively evaluated. Disease activity score (DAS28) was also assessed. RESULTS: We did not find any significant association between TNFα-308G/A and TNFα-238G/A polymorphism and RA risk (P > 0.05), but TNFα-308GG genotype was associated significantly with rheumatoid factor seropositivity (P < 0.01) and TNFα-238GA genotype was associated with swollen joint count < 5 (P = 0.04) as well as with less severe disease activity as measured by DAS28 score (P = 0.02). CONCLUSION: Our findings suggest the possible roles of TNFα-308GG and TNFα-238GA as important determinants for the development of certain manifestations and disease severity in RA in ethnic Kashmiri population.
Assuntos
Artrite Reumatoide/genética , Polimorfismo Genético , Fator de Necrose Tumoral alfa/genética , Adulto , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/etnologia , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Indicadores Básicos de Saúde , Humanos , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Prospectivos , Fatores de Risco , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: The aim of our study was to determine the genetic associations between polymorphisms of the IL1ß gene (-511C/T and +3953C/T) and IL6 gene (-174G/C) with disease susceptibility and severity in patients with rheumatoid arthritis (RA) in ethnic Kashmiri population. METHODS: Allele and genotype frequencies of IL1ß -511 C/T, IL1ß +3953 C/T and IL6 -174 G/C polymorphisms were compared between 150 RA patients and 200 healthy controls by using PCR-RFLP method. RESULTS: We did not find any significant association between IL1b +3953 C/T and IL6 -174 G/C polymorphism and Rheumatoid Arthritis risk (p>0.05), but IL1ß +3953 CT genotype was associated significantly with increased SJC and ESR and IL6 -174 GG genotype was associated significantly with increased ESR. However IL1b -511C/T polymorphism was significantly associated with rheumatoid arthritis risk and the carriers of IL1ß -511 'C' allele (CC and TC genotypes) appeared to have lower risk for RA development. CONCLUSION: Our findings suggest that the IL1b -511 'C' allele has a protective role from disease development. Furthermore our results suggest a possible role of IL1b +3953 CT and IL6 -174 GG genotypes as disease activity markers of rheumatoid arthritis.
Assuntos
Artrite Reumatoide/genética , Citocinas/genética , Variação Genética , Adulto , Idoso , Alelos , Artrite Reumatoide/epidemiologia , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Índia/epidemiologia , Interleucina-1beta/genética , Interleucina-6/genética , Masculino , Pessoa de Meia-Idade , Razão de Chances , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Schwannomas are rare neurogenic tumors derived from the schwann cells. Their laryngeal location is uncommon and the diagnosis is difficult. We report a case of a 17-year-old female who presented with symptoms of intermittent breathlessness mimicking acute attacks of bronchial asthma and resulted in delayed diagnosis, which lead to upper airway obstruction and an emergency tracheostomy. Computed tomography (CT) of neck revealed a soft-tissue mass within the subglottic region. Surgical excision of the growth was done by laryngofissure technique. Histopathological examination of the tumor revealed it to be a schawanoma. The subglottic occurrence of schwannoma is very rare. Case history and detailed clinical examination are important and will guide for relevant investigations and help to reach at a definitive diagnosis.
RESUMO
Diaphragmatic hernias in adults usually pose a diagnostic challenge; the presentations are varied and range from acute abdominal pain with features of gut obstruction, pleuritic chest pain, breathlessness, to a pregnant woman with pain abdomen. The usual cause in adults is posttraumatic. Because of varied presentations, the diagnosis is often delayed. We present a case of a young woman who presented with sudden-onset breathlessness with similar episodes in the past and no history of trauma, who proved to be having a right-sided diaphragmatic hernia. This case is reported not only because of rarity of nontraumatic right-sided Bochdalek hernias in adults, but also because of peculiar presentation and history.
Assuntos
Hérnia Diafragmática/diagnóstico , Diafragma/diagnóstico por imagem , Diafragma/patologia , Feminino , Hérnia Diafragmática/diagnóstico por imagem , Hérnia Diafragmática/patologia , Hérnia Diafragmática/cirurgia , Humanos , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
A 20-year-old young female presented with extensive skin rashes with bullae and extensive epidermal necrolysis about 20 days after the addition of lamotrigine (LTG) to her anticonvulsant medication. The patient was managed by stopping LTG and supportive treatment. The seizures were controlled with increase in the doses of carbamazepine. The report emphasises exercising of caution once LTG is added to a regimen containing valproic acid.
Assuntos
Anticonvulsivantes/efeitos adversos , Síndrome de Stevens-Johnson/etiologia , Triazinas/efeitos adversos , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Feminino , Humanos , Lamotrigina , Triazinas/uso terapêutico , Adulto JovemRESUMO
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