RESUMO
INTRODUCTION: Primary gastrointestinal melanomas are mucosal malignancies that arise from melanocytes in the oropharynx, rectum, and anus. Anorectal malignant melanoma (ARMM) are exceedingly rare, accounting for less than 1% of all melanomas, 0.1% of all rectal malignancies and 4% of anal malignancies. Diagnosis is frequently delayed as these lesions are often mistaken for haemorrhoids. Histological evaluation with special immunohistochemical stains is often necessary for definitive diagnosis. Due to the aggressive nature, 61% of patients with ARMM would already have lymph node involvement or distant metastases, by the time of diagnosis. Prognosis is usually poor with 5-year survival rate of <20%. We report a case of metastatic ARMM in an elderly lady who presented with symptoms and signs mimicking a haemorrhoid. CASE REPORT: A 69-year-old lady presented with one year history of intermittent rectal bleed and an anorectal mass that was initially treated as haemorrhoid. Colonoscopy showed a hyperpigmented mass in the anorectal region which was confirmed as malignant melanoma on histopathological examination. Imaging with CT and MRI demonstrated locally advanced tumour with distant metastases to the liver and lung. Patient was referred for palliative management. CONCLUSION: ARMM is a rare malignancy and often presented with non-specific clinical signs. Diagnosis is frequently delayed without high index of suspicion. MRI pelvis is the imaging of choice to assess local extent of disease. Histologic evaluation with special immunohistochemical stains is often necessary for definitive diagnosis. Prognosis is poor despite surgical and chemotherapeutic interventions.
Assuntos
Neoplasias do Ânus/patologia , Melanoma/patologia , Neoplasias Retais/patologia , Idoso , Feminino , HumanosRESUMO
AIM: The Sodergren score was developed to objectively measure the severity of haemorrhoidal symptoms. This study aimed to determine if there was a difference in the Sodergren score between patients who were offered surgery and patients who underwent successful rubber band ligation of internal haemorrhoidal disease and to assess its performance in guiding management. METHOD: This is a prospective, observational study. The preintervention Sodergren scores of subjects with internal haemorrhoidal disease were recorded and blinded to the surgeon in charge. Sodergren scores of subjects in the two arms were unblinded and compared at the end of the study. RESULTS: The results for 290 patients were available for final analysis. The median scores of those offered surgery and those who underwent successful rubber band ligation differed significantly [4 (interquartile range 3-10) vs 0 (interquartile range 0-4), P = 0.001]. In predicting treatment, the Sodergren score had an area under the receiver operating characteristic curve of 0.735 (95% CI 0.675-0.795). CONCLUSION: There is a significant difference in scores between patients who were offered surgery and patients with successful rubber band ligation. Our study suggests that the Sodergren score has an acceptable discrimination in predicting the need for surgery in internal haemorrhoidal disease. We propose that patients with a Sodergren score of 6 or more be considered for upfront surgery. This score could potentially be used to standardize outcomes of future haemorrhoid trials.
Assuntos
Hemorroidas , Hemorroidas/cirurgia , Humanos , Ligadura , Estudos Prospectivos , Curva ROCRESUMO
Aromatic L-amino acid decarboxylase deficiency is a rare neurotransmitter defect leading to serotonin, dopamine and norepinephrine deficiency. Affected individuals usually present in infancy with severe developmental delay, oculogyric crises and extrapyramidal movements. We present the clinical, molecular and biochemical features of a pair of siblings who presented with fatigability, hypersomnolence and dystonia and who showed excellent response to treatment. Analysis of CSF biogenic amines, plasma AADC levels and direct sequencing of the DDC gene was performed. CSF catecholamine metabolites were reduced, with elevation of 3-O-methyldopa. Plasma AADC activity was undetectable in both siblings, and decreased in their carrier parents. One missense mutation (853C>T) was found in exon 8, and a donor splice site mutation was found in the intron after exon 6 (IVS6+4A>T). Both siblings showed excellent response to MAO inhibitor and dopamine agonist treatment. This report expands the clinical spectrum of AADC deficiency and contributes to the knowledge of the genotype and phenotype correlation for the DDC gene. It is important to recognize the milder phenotypes of the disease as these patients might respond well to therapy.
Assuntos
Descarboxilases de Aminoácido-L-Aromático/deficiência , Descarboxilases de Aminoácido-L-Aromático/genética , Mutação de Sentido Incorreto , Sequência de Aminoácidos , Substituição de Aminoácidos , Índice de Apgar , Aminas Biogênicas/líquido cefalorraquidiano , Catecolaminas/líquido cefalorraquidiano , Feminino , Humanos , Lactente , Dados de Sequência Molecular , Fenótipo , IrmãosRESUMO
Controversy surrounds the acceptance of hypertension as an independent risk factor for anaesthesia. In an attempt to identify variables that are associated with increased haemodynamic instability during surgery, the blood pressure profiles of 128 patients were analysed. The two variables that contributed most to the instability were pre-operative control of blood pressure and anaesthetic technique. To reduce the fluctuation in blood pressure, it is advisable for patients to be given a regional anaesthetic. Current therapy for hypertension appears to exaggerate the depressant effects of anaesthetic drugs. Care must be taken not only to prevent hypertensive episodes during surgery, but also hypotension.
Assuntos
Pressão Sanguínea , Hipertensão/fisiopatologia , Assistência Perioperatória , Procedimentos Cirúrgicos Operatórios , Adulto , Idoso , Anestesia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Salas Cirúrgicas , Medicação Pré-Anestésica , Pulso ArterialRESUMO
We report a Chinese kindred with an atypical sex-linked form of isolated adrenal hypoplasia without hypogonadotropic hypogonadism. Evidence of sex linkage was supported by DNA analysis using three polymorphic markers from the X-chromosome: a restriction fragment length polymorphism 200 kb centromeric of the DAX-1 gene, a tetranucleotide repeat marker in the DAX-1 promoter (DAX-P), and a microsatellite in the Duchenne muscular dystrophy locus (3'-19). This pedigree therefore presents the novel phenotype of sex-linked hypoadrenalism without hypogonadotropic hypogonadism, with evidence of possible linkage to the DAX-1 gene. However, all three affected individuals were examined for mutations in the DAX-1 gene, and found to have no sequence anomalies in the coding region, splice sites or 5' non-coding region. This presentation may be due to a defect in the DAX-1 gene outside its known coding region, possibly modulated by functional polymorphisms at other loci, and/or environmental effects, or to a defect in a novel gene on the X chromosome which selectively influences adrenal development.
Assuntos
Hiperplasia Suprarrenal Congênita/genética , Proteínas de Ligação a DNA/genética , Regiões Promotoras Genéticas , Receptores do Ácido Retinoico/genética , Proteínas Repressoras , Fatores de Transcrição/genética , Cromossomo X , Adulto , Criança , China , Receptor Nuclear Órfão DAX-1 , DNA/análise , Desoxirribonuclease HindIII , Ligação Genética , Humanos , Masculino , Repetições de Microssatélites , Mutação , Linhagem , Polimorfismo de Fragmento de Restrição , Puberdade , Splicing de RNARESUMO
Evaluation of minimal residual disease (MRD) in acute lymphoblastic leukaemia (ALL) is important for disease prognostication and early relapse detection. In this study, the rearranged third complementarity-determining-region (CDR-III) of immunoglobulin heavy chain (IgH) was used as a surrogate tumour marker for MRD evaluation. DNA obtained from marrows at diagnosis was amplified by the polymerase chain reaction (PCR) using a pair of consensus primers. After 2 rounds of DNA amplification and polyacrylamide gel separation, the nucleotide sequences of 87.5% (21/24) consecutive children with B-lineage ALL were obtained by automated sequencing. There were between 1-4 rearrangements per patient. Although the J5 and J6 joining regions were preferentially used, the rearranged sequences were unique for all 25 sequences obtained. Oligoprobes to the DNJ region were constructed and quantitation in 7 patients showed a detection sensitivity of 1 leukaemic cell in 10(4) to 10(5) normal cells compared to 3 in 100 using conventional morphological criteria. Serial bone marrow showed progressive decrease in the quantity of leukaemic cells, and no leukaemic sequences were detected during cessation of therapy in 4/7 patients. One patient with detectable MRD, absconded treatment and eventually relapsed. These results are consistent with the need to eliminate the leukaemic clones below MRD detection levels before the end of therapy at 2 years. In conclusion, this study describes a novel, simplified and sensitive method of MRD detection in childhood leukaemia.
Assuntos
Linfoma de Burkitt/patologia , Adolescente , Linfoma de Burkitt/genética , Criança , Sondas de DNA , Feminino , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Região Variável de Imunoglobulina/genética , Masculino , Neoplasia Residual , Reação em Cadeia da PolimeraseRESUMO
Restriction fragment length polymorphism (RFLP) of the T cell receptor beta-chain gene was studied in two groups of Chinese thyrotoxic patients, those with thyrotoxic hypokaleamic periodic paralysis (THPP) and those with Graves' Disease (GD). DNA digested with restriction enzymes Bgl II, Bam HI, Eco RI, Pvu II and Taq I were hybridized to a 770 bp TcR beta cDNA probe containing the joining (J) and constant (C) region segments. The TcR beta/Bgl II polymorphism of 9.2 kb and 10 kb fragments were observed in THPP, GD and normal controls. The genotype frequencies of this polymorphism, however, did not differ between patients (THPP or GD) and controls. These results, therefore, do not support the presence of an association between the TCR beta/Bgl II RFLP and THPP nor with GD susceptibility. Finally, restriction analysis of DNA from our patients and normal controls using enzymes Bam HI, Eco RI, Pvu II and Taq I with the T cell receptor beta-chain gene did not show polymorphisms, and were therefore not informative.