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1.
Clin Case Rep ; 7(3): 558-563, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30899494

RESUMO

t(11;17) is a rare but recognized finding usually found in Acute Promyelocytic Leukemia with variant RARA translocation (APLv). We present a case of Acute Myeloid Leukemia with t(11;17) that has different break points than those occurring in APLv. The diagnosis of acute myeloid leukemia, not otherwise specified, acute monoblastic leukemia was reached after a thorough investigation. Reaching the correct diagnosis and distinguishing these two entities are essential as they have different management, prognosis, and overall survival.

2.
Arab J Urol ; 15(3): 194-198, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29071151

RESUMO

OBJECTIVES: To evaluate the possible role of silodosin (a highly selective α1A-adrenoceptor antagonist) in facilitating the passage of distal ureteric stones (DUS) in children, as the role of α-blockers as medical expulsive therapy is well known in adults. PATIENTS AND METHODS: In all, 40 paediatric patients (27 boys and 13 girls) diagnosed with unilateral, single, radiopaque DUS of <10 mm were included in the study. Their mean (SD, range) age was 8.1 (2.7, 5-17) years. The patients were randomly divided into two groups: Group A, received silodosin 4 mg as a single bedtime dose; and Group B, received placebo as a single bedtime dose. Ibuprofen was prescribed to both groups on-demand for pain episode relief. Patients were followed up biweekly for 4 weeks. The stone expulsion time and rate, pain episodes, analgesic use, and any adverse effects were recorded. RESULTS: The mean (SD) stone size in Group A was 6.6 (1.7) mm and in Group B was 6.7 (1.4) mm (P = 0.4). Two patients were lost to follow-up (one from each group), and one patient in Group A refused to complete the study. The stone-free rate at end of the 4-week treatment period was 88.8% in Group A vs 73.6% in Group B (P = 0.4). The mean (SD) stone expulsion time was 7.0 (4.3) vs 10.4 (4.7) days in groups A and B, respectively (P = 0.02). The mean (SD) number of pain episodes requiring ibuprofen was 2.3 (1.4) vs 4.7 (2.6) episodes in groups A and B, respectively (P < 0.001). Adverse effects (headache and dizziness) were recorded in three patients (16.7%) in Group A, which were mild and none of them discontinued treatment, whilst no adverse effects were recorded in Group B. CONCLUSIONS: The data in the present study show that silodosin can be safely used in the treatment of DUS in children for decreasing time to stone expulsion, pain episodes, and analgesic requirement.

3.
Arab J Urol ; 15(3): 236-241, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29071158

RESUMO

OBJECTIVES: To report our initial experience in redo hypospadias repair with a lingual mucosal graft (LMG) using a two-stage Bracka technique. PATIENTS AND METHODS: This study was prospectively conducted and included 26 patients with hypospadias with failed previous repairs. All the patients had a LMG using a two-stage Bracka technique. In the first stage, the harvested LMG, from the ventro-lateral surface of the tongue, was implanted in a well-prepared vascularised bed in the ventral aspect of the penis. After 6 months, tubularisation of the well-taken graft was completed. Tunica vaginalis or a dartos flap was used as second-layer coverage of the neourethra. Success was defined as acceptable aesthetic and functional outcomes without any additional surgical interventions. RESULTS: The mean (SD) patient age was 5.15 (1.6) years. The mean (SD) LMG length was 3.82 (0.9) cm and the width was 1.5 (0.5) cm. The mean (SD) number of previous repairs was 2.76 (1.1). The mean (SD) follow-up was 12 (2) months. Donor-site complications included: pain in all patients, with a pain score of >3 on the visual analogue pain scale (0-10) in 10 (38%); and speech problems in 19 (73%). First-stage complications were graft loss (n = 2) and contracture (n = 1). The second stage was completed in 23 patients resulting in the following significant complications: meatal stenosis plus fistula (n = 2), breakdown (n = 1). Successful hypospadias repair was achieved in 77% (20/26) of the patients. CONCLUSION: Lingual mucosa is a reliable and versatile graft material in the armamentarium of two-stage Bracka hypospadias repair with the merits of easy harvesting and minor donor-site complications.

4.
Arab J Urol ; 15(1): 53-59, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28275519

RESUMO

OBJECTIVE: To assess the additive effect of sildenafil citrate to tamsulosin in the treatment of lower urinary tract symptoms due to benign prostatic hyperplasia (LUTS/BPH) in men with or without erectile dysfunction (ED). PATIENTS AND METHODS: In all, 150 men with untreated LUTS/BPH with or without ED were randomised to receive sildenafil 25 mg once daily (OD) or placebo OD (night time) combined with tamsulosin 0.4 mg OD (day time) for 6 months. Changes from pre-treatment scores in International Prostate Symptom Score (IPSS), IPSS-quality of life (QoL) score, maximum urinary flow rate (Qmax), and the five-item version of the International Index of Erectile Function questionnaire (IIEF-5) were assessed at 3 and 6 months. Safety profiles were assessed by physical examination and monitoring clinical adverse events. RESULTS: Group A comprised of men who received tamsulosin and sildenafil (75 men), whilst those in Group B received tamsulosin and placebo (75). The IPSS was significantly improved in Group A compared to Group B, at -29.3% vs -13.7% (P = 0.039) at 3 months and -37% vs -19.6% (P = 0.043) at 6 months after treatment. Qmax significantly improved in both groups compared with before treatment (P < 0.001). The IIEF-5 scores improved more in Group A than in Group B, at 58.7% vs 11.7% at 3 months and 62.4% vs 12.4% at 6 months after treatment (both P < 0.001). CONCLUSION: Sildenafil citrate combined with tamsulosin improved LUTS, erectile function, and patient QoL more than tamsulosin monotherapy with the merit of a comparable safety profile in patients with LUTS/BPH.

6.
Arab J Urol ; 14(2): 131-5, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27489740

RESUMO

OBJECTIVE: To compare the safety, efficacy and complications of single vs multiple instillations of povidone iodine (PI) and urographin as a sclerosing agent in the treatment of chyluria. PATIENTS AND METHODS: The study included 58 patients diagnosed with chyluria between March 2006 and January 2013. The inclusion criteria were either severe attacks of chyluria or patients with mild-to-moderate chyluria who had failed conservative treatment. The patients were randomly allocated to one of two groups: those in Group A had a single instillation of a combination of PI 0.2% plus the contrast-agent urographin 76%, while those in Group B had multiple instillations of the same combination twice daily for 3 successive days. RESULTS: The mean (SD) age of the patients in Groups A and B was 38.22 (10.67) and 37.9 (10.86) years, respectively. Chyluria was severe in eight patients (14.8%), moderate in 25 (46.3%) and mild in 21 (38.9%). The success rate in Group A (single instillation) was 85.2% and in Group B (multiple instillation) was 88.9%. The recurrence rate in Group A was 14.8% with a disease-free duration (DFD) of 4-15 weeks, while in group B it was 11.1% with a DFD of 6-18 weeks. CONCLUSION: There was no significant difference between a single instillation of a combination of PI 0.2% and urographin 76% as a sclerosing agent in the treatment of chyluria and multiple instillations. However, the single instillation protocol is more cost effective with a shorter hospital stay.

7.
Cytometry B Clin Cytom ; 88(6): 389-94, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26296648

RESUMO

BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell disorder, characterized by the deficiency of glycosylphosphatidylinositol (GPI) that anchors proteins in cell membranes. PNH is manifest variously with hemoglobinuria, thrombosis, or bone marrow failure. This retrospective study was aimed at assessing the incidence and characteristics of patients diagnosed with PNH in the King Fisal Specialist Hospital and research center. METHODS: Patients referred for PNH diagnosis at King Faisal Specialist Hospital and Research Centre, Riyadh, during the 2-year period (2012-2013) were included in the analysis. Peripheral blood samples were used for multi-parametric flow cytometry analysis based on fluorescent inactive aerolysin (FLAER), and the markers, CD235a and CD59 on red blood cells (RBCs), and CD14, CD45, CD64, CD24, and CD15 on white blood cells (WBCs) exclusively monocytes and granulocytes. Univariate analysis of the disease characteristics was performed. RESULTS: Of the 366 samples submitted for PNH screening, 14 were positive (4%) and 11 were evaluable. Of the 11 patients analyzed, 8 patients (73%) presented with aplastic anemia, 1 patient (9%) each with pancytopenia, Budd-Chiari syndrome, and immune thrombocytopenia purpura. All samples showed type II and III GPI-deficient clones with a median clone size of 15% (range, 0.7%-56%) in the RBCs, and 63% (range, 3.8%-100%) in WBCs (monocytes and granulocytes). CONCLUSIONS: This study confirms the rarity of PNH and its predominant presentation as aplastic anemia or thrombosis in a Saudi Arabian population, similar to the worldwide incidence.


Assuntos
Anemia Aplástica/diagnóstico , Eritrócitos/citologia , Citometria de Fluxo , Granulócitos/citologia , Hemoglobinúria Paroxística/diagnóstico , Leucócitos/citologia , Adulto , Anemia Aplástica/imunologia , Medula Óssea/imunologia , Feminino , Citometria de Fluxo/métodos , Hemoglobinúria Paroxística/imunologia , Humanos , Leucócitos/imunologia , Masculino , Pessoa de Meia-Idade , Monócitos/citologia , Monócitos/imunologia , Estudos Retrospectivos , Arábia Saudita
8.
Urology ; 85(5): 1162-1165, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25794427

RESUMO

OBJECTIVE: To evaluate the safety and efficacy of pediatric percutaneous nephrolithotomy (PCNL) in the flank-free modified supine position (FFMSP). PCNL in the supine position is increasingly and successfully used in pediatric age group. Different modifications of supine positions have been described; however, the best supine position is not well established and remains a matter of debate. PATIENTS AND METHODS: This prospective study included 22 children presenting with single renal pelvis stone (2-3 cm) in the period between May 2012 and April 2014. Diagnosis was set by plain x-ray and computed tomography in all patients. PCNL was performed with the patients placed in the FFMSP. The operative time and hospital stay were estimated. The outcome and any perioperative complications or conflicts were recorded. RESULTS: The study included 22 children (15 boys and 7 girls) with a solitary renal pelvis stone. Mean ± standard deviation age of the patients was 9.5 ± 3.2 years (range, 3-15.5 years). Stone length, operative time, and hospital stay had mean ± standard deviation of 2.4 ± 0.23 cm, 65.1 ± 18.7 minutes, and 4.4 ± 0.9 days. Stone-free rate was 90.9% after 1 session of PCNL. One patient (4.5%) needed a second-look PCNL. Shock wave lithotripsy was performed for another patient. Postoperative fever occurred in 4 patients (18.2%). One patient received postoperative blood transfusion. Postoperative transient urinoma occurred in 2 patients (9.1%). CONCLUSION: PCNL in pediatric age group via FFMSP was proved to be safe and effective in management of renal pelvis stones of size 2-3 cm. It provides stone clearance rate comparable with that reported of conventional PCNL in the prone position.


Assuntos
Cálculos Renais/cirurgia , Pelve Renal , Nefrostomia Percutânea/métodos , Posicionamento do Paciente/métodos , Decúbito Dorsal , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Nefrostomia Percutânea/efeitos adversos , Estudos Prospectivos
9.
Urology ; 84(6): 1374-7, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25283703

RESUMO

OBJECTIVE: To evaluate the use of lingual mucosal graft (LMG) as a substitute for tunica albuginea in the treatment of Peyronie disease (PD). PATIENTS AND METHODS: Seventeen patients, reporting normal erectile function, with PD interfering with sexual function were operated on by plaque excision and grafting with LMG. Preoperative assessment included: the International Index of Erectile Function-5 score, penile duplex, and penile curvature angle measurement. Postoperative erectile function and penile deformity were assessed every 3 months for 9-18 months. RESULTS: Mean age of the patients was 52 (± 4.7) years and mean angle of deformity was 60° (± 5.1). Donor site complications occurred in the form of mild transient swelling, numbness, and pain. Postoperative assessment showed complete penile straightening in 15 patients with mild curvature recurrence (<20°) in 2 patients at the third month. De novo mild erectile dysfunction was reported by 1 patient who responded to low-dose phosphodiesterase type 5 inhibitor. Patients' and partners' satisfaction was reported in 16 (94%) patients. These results remained stable until the end of the follow-up period. CONCLUSION: LMG seems to be a valuable substitute for tunica albuginea in cases of PD. It is readily available and shows early graft take. It also proved safety, reliability, feasibility, and a satisfactory short-term outcome for the treatment of PD.


Assuntos
Mucosa Bucal/transplante , Induração Peniana/diagnóstico , Induração Peniana/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Transplante de Tecidos/métodos , Adulto , Estudos de Coortes , Seguimentos , Sobrevivência de Enxerto , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Estudos Prospectivos , Medição de Risco , Índice de Gravidade de Doença , Língua/cirurgia , Resultado do Tratamento
10.
ScientificWorldJournal ; 2014: 862796, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24587761

RESUMO

The lipophilicity of ten ruthenium(II)-arene complexes was assessed by reversed-phase thin-layer chromatography (RP-TLC) on octadecyl silica stationary phase. The binary solvent systems composed of water and acetonitrile were used as mobile phase in order to determine chromatographic descriptors for lipophilicity estimation. Octanol-water partition coefficient, logK(OW), of tested complexes was experimentally determined using twenty-eight standard solutes which were analyzed under the same chromatographic conditions as target substances. In addition, ab initio density functional theory (DFT) computational approach was employed to calculate logK(OW) values from the differences in Gibbs' free solvation energies of the solute transfer from n-octanol to water. A good overall agreement between DFT calculated and experimentally determined logK(OW) values was established (R(2) = 0.8024-0.9658).


Assuntos
Complexos de Coordenação/química , Modelos Químicos , Piridinas/química , Compostos de Rutênio/química , Cromatografia em Camada Delgada , Complexos de Coordenação/síntese química , Interações Hidrofóbicas e Hidrofílicas , Octanóis/química , Piridinas/síntese química , Solventes
11.
Arab J Urol ; 12(4): 299-303, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26019966

RESUMO

OBJECTIVE: To evaluate the outcome of using semi-rigid ureteroscopy with or without intracorporeal pneumatic lithotripsy vs. temporary ureteric JJ stenting in the management of obstructing ureteric calculi in pregnant women. PATIENTS AND METHODS: This prospective comparative study comprised 43 pregnant women with obstructing ureteric calculi. The diagnosis was based on the acute flank pain as the main symptom, microscopic haematuria, and unilateral hydronephrosis on abdominal ultrasonography (US). The patients were randomly divided into two groups; those in group 1 (22 patients) were treated by temporary ureteric JJ stenting until after delivery, and those in group 2 (21) were treated definitively by ureteroscopic stone extraction with intracorporeal pneumatic lithotripsy. Postoperative complications and the degree of patient satisfaction were reported. RESULTS: An obstructing ureteric stone was identified by US in 68% and 76% of groups 1 and 2, respectively. In group 1, nine patients had mid-ureteric stones and 13 had stones in the lower ureter. In group 2, seven patients had mid-ureteric stones, whilst the stones were in the distal ureter in 14. No perioperative foetal complications were detected in any group and all patients completed the full term of pregnancy. In group 1, four patients had a postoperative urinary tract infection (UTI), and the JJ stent was exchanged in seven. Two patients in group 2 had a postoperative UTI. CONCLUSIONS: Definitive ureteroscopy, even with intracorporeal pneumatic lithotripsy, is an effective and safe treatment for pregnant women with obstructing ureteric calculi. It has a better outcome and is more satisfactory for the patients than a temporary JJ stent.

12.
Arab J Urol ; 10(4): 408-13, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26558059

RESUMO

OBJECTIVE: To compare the outcome of a single vs. a double-layer dartos interposition for preventing a fistula after tubularised incised-plate (TIP) distal hypospadias repair. PATIENTS AND METHODS: We retrospectively reviewed the records of patients with primary distal hypospadias who had the hypospadias repaired between February 2009 and June 2011, operated by one surgeon (S.A.K.). In all of the children a standard TIP urethroplasty was performed, which was covered by a dartos fascial flap fashioned using one of two techniques, i.e. in Group I (48 patients) double dartos preputial flaps were used, and in Group II (52 patients) a single dorsal dartos flap was used and transposed ventrally via a 'buttonhole'. The fistula rate and other complications related to each group were recorded. RESULTS: The mean (range) follow-up was 12 (6-22) months for Group I and 14 (6-24) months for Group II. The result was considered a success in 96% of Group I and 92% of Group II. In Group I there were no fistulae, while in Group II there were four fistulae (8%) detected; this difference was statistically insignificant (P = 0.1). Meatal stenosis was associated with a fistula in one patient in Group II but not in the other three. In Group I a meatal stenosis developed late after complete healing of the urethroplasty, with no associated fistula. The repair broke down in one patient in Group I (2%). CONCLUSION: A double-dartos neourethral cover in TIP hypospadias repair seems to be more effective than a single layer for preventing a fistula, despite there being no statistically significant difference between the groups. However, the protective effect of double-dartos flaps must be appropriately evaluated in a prospective, randomised and controlled study in more patients.

13.
J Pediatr Urol ; 8(1): 103-7, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20889383

RESUMO

OBJECTIVE: To evaluate the results of using a distally folded onlay flap in the repair of distal penile hypospadias, with regard to meatal stenosis, urethrocutaneous fistula and esthetic outcome. PATIENTS AND METHODS: This prospective study involved 36 patients with mean age 3.2 years (range 1-4); 18 had a shallow urethral plate, 10 a small glans, and 8 had undergone a previous operation but still had available preputial skin. All underwent the elective technique of distally folded onlay flap, which was carried out under general anesthesia using a 4× magnifying loupe. Starting with penile degloving and then harvesting the transverse island preputial flap provides a flap about 1 cm longer than the urethral plate. Two lateral incisions are made along the urethral plate with no need for dissection deep into the glanular wings. The flap is sutured to the urethral plate, leaving 1 cm distal to the tip of the glans, which is folded back to be sutured to the edges of the glanular wings. RESULTS: There were no cases of meatal stenosis or requirement for urethral dilatation. Two patients had a urethrocutaneous fistula; one closed spontaneously while the other needed surgical repair 6 months later. Regarding esthetic appearance, 32 were scored good and 4 satisfactory. CONCLUSION: This versatile technique offers satisfactory results regarding meatal stenosis, urethrocutaneous fistula and esthetic outcome.


Assuntos
Hipospadia/cirurgia , Pênis/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Retalhos Cirúrgicos , Cicatrização/fisiologia , Pré-Escolar , Estudos de Coortes , Estética , Seguimentos , Humanos , Hipospadia/diagnóstico , Lactente , Masculino , Complicações Pós-Operatórias/fisiopatologia , Estudos Prospectivos , Procedimentos Cirúrgicos Reconstrutivos/efeitos adversos , Medição de Risco , Transplante de Pele/métodos , Técnicas de Sutura , Coleta de Tecidos e Órgãos , Resultado do Tratamento , Micção/fisiologia
14.
BJU Int ; 107(10): 1605-10, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-20825396

RESUMO

OBJECTIVE: • To evaluate the efficacy of a bladder preservation multimodality protocol for patients with operable carcinoma invading bladder muscle. MATERIALS AND METHODS: • In this prospective study, we included 33 patients with transitional cell carcinoma (TCC) (T2 and T3, Nx, M0) who were amenable to complete transurethral resection. • These patients refused radical cystectomy as their first treatment option. After maximum transurethral resection of bladder tumour (TURBT), all patients received three cycles of adjuvant chemotherapy in the form of methotrexate, vinblastin, adriamycin and cisplatin (MVAC) followed by radical radiotherapy. • Four weeks later, all cases had radiological and cystoscopical re-evaluation. • Complete responders were considered to be those patients who had no evidence of residual tumour. All patients were subjected to a regular follow-up by cystoscopy and tumour site biopsy conducted every 3 months. Abdomino-pelvic computed tomography and chest X-ray were conducted every 6 months. • The study endpoint was the response to treatment after completion of the first year of follow-up after therapy. RESULTS: • Out of 33 eligible patients, a total of 28 patients completed the study treatment protocol. Their mean ± SD age was 56.7 ± 6 years. Trimodal therapy was well tolerated in most of cases, with no severe acute toxicities. After 12 months of follow-up, a complete response was achieved in 39.3% and a partial response in 7.1%, with an overall response rate of 46.4%. • By the end of the first year, disease-free survival was reported in 39.3%, whereas 25% were still alive with their disease, giving an overall survival of 64.3% for all patients who maintained their intact, well functioning bladders. • Tumour stage and completeness of transurethral resection of bladder tumour were the most important predictors of response and survival. T2 lesions had complete and partial response rates of 69.2% and 23%, respectively, whereas T3 lesions had rates of 40% and 13.3%, respectively (P = 0.001). • The response rate in patients who had complete TURBT was 82.6% vs 20% in those with cystoscopic biopsy only (P = 0.001). In addition, disease-free survival was 72.7% in T2 patients and 27.3% in T3 patients (P = 0.001). CONCLUSION: • In the present study, bladder preservation protocol with MVAC and radical radiotherapy achieved suboptimal response rates at 1 year in patients with localized TCC invading bladder muscle. Patients with solitary T2 lesions that are amenable to complete TURBT achieved the best response rates. Longer follow-up is needed to verify these results. Patients with localized disease should be encouraged for radical cystectomy, which achieved better results.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma de Células de Transição/terapia , Cistectomia , Neoplasias da Bexiga Urinária/terapia , Idoso , Biópsia , Carcinoma de Células de Transição/patologia , Cisplatino/administração & dosagem , Terapia Combinada , Doxorrubicina/administração & dosagem , Métodos Epidemiológicos , Feminino , Humanos , Masculino , Metotrexato/administração & dosagem , Pessoa de Meia-Idade , Invasividade Neoplásica/patologia , Resultado do Tratamento , Neoplasias da Bexiga Urinária/patologia , Vimblastina/administração & dosagem
15.
Arab J Urol ; 9(3): 203-6, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26579298

RESUMO

OBJECTIVE: To evaluate the results of simple closure using bilateral anterior pubic osteotomy to achieve a tension-free approximation of the pubis and abdominal wall in patients with bladder exstrophy. PATIENTS AND METHODS: A prospective study carried out between 2006 and 2009 included 15 patients (13 boys and 2 girls; age range 3-47 months). Of these patients, three had recurrent exstrophy while 10 were operated primarily. An elective surgical technique was used for all patients, which included dissection of the exstrophic bladder from the abdominal wall, closure of the bladder and reconstruction of the urethra, then dissection of the rectus muscle and sheath lateral to the attachment of muscle to pubic bone, which makes osteotomy of the superior pubic ramus easy, thus facilitating closure. RESULTS: For closure of the bladder and anterior abdominal wall the results were excellent for all patients soon after surgery, but there was soft-tissue infection in two patients. Of all 15 patients, one had incomplete bladder dehiscence and another had a vesico-cutaneous fistula; both needed surgical intervention later. CONCLUSIONS: Simple closure with anterior pubic osteotomy is a feasible and effective means to facilitate both bladder and abdominal closure for patients with bladder exstrophy. It is advantageous in being a rapid procedure, and can be completed by the paediatric urologist.

16.
Genet Test Mol Biomarkers ; 14(1): 67-74, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19943786

RESUMO

AIM: The aim of this study was to evaluate the response and resistance of cases to chronic myeloid leukemia (CML) therapy with tyrosine kinase (TK) inhibitors (imatinib mesylate) and to search for mutations in the breakpoint cluster region (BCR)-Abelson murine leukemia (ABL) kinase domain prior to and during therapy. METHODS: Molecular response was assessed with real-time quantitative reverse transcription-polymerase chain reaction and was expressed as the ratio between BCR-ABL and ABL (k562 cell line) x 100. In addition, we searched for mutations in BCR-ABL kinase domain by amplification and direct sequencing of cDNA products of archived RNA samples. RESULTS: There were 85 cases of CML Philadelphia-chromosome-positive patients. Major molecular response [corrected] (MMR) of 0.05% was achieved in 40 (47%) of 85 patients and 3-log reduction was achieved in 37 (44%) after 6 months of imatinib therapy. When molecular monitoring was extended to 12 months in a subset of delayed responsive cases (17 cases) who did not achieve an MMR at 6 months, significant changes in BCR-ABL/ABL ratio were noticed. Fifteen de novo CML patients were started directly on treatment and were monitored for BCR-ABL/ABL ratio for a further period of up to 24 months. Their median of BCR-ABL/ABL ratio was 18% at diagnosis, 0.3% after 6 months, 0.2% after 12 months, and 0.01% after 18 and 24 months. Four (27%) of 15 patients achieved MMR as 3-log reduction after 6 months, 6 (40%) after 12 months, 9 (60%) after 18 months, and 7 (46%) after 24 months. No mutation(s) or polymorphism(s) were detected in all tested patients at diagnosis, at 6 months following imatinib and following 12 months for patients showing delayed response. CONCLUSION: BCR-ABL mutations are rare in early chronic phase and increases with CML disease progression. Therefore, search for other causes in resistant cases at this phase should be sought.


Assuntos
Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Piperazinas/uso terapêutico , Inibidores de Proteínas Quinases/uso terapêutico , Pirimidinas/uso terapêutico , Adolescente , Adulto , Idoso , Sequência de Bases , Benzamidas , Biomarcadores Tumorais/genética , Criança , Pré-Escolar , Primers do DNA/genética , DNA de Neoplasias/genética , Resistencia a Medicamentos Antineoplásicos , Feminino , Proteínas de Fusão bcr-abl/genética , Genes abl , Humanos , Mesilato de Imatinib , Masculino , Pessoa de Meia-Idade , Mutação , Estudos Retrospectivos , Arábia Saudita , Resultado do Tratamento , Adulto Jovem
17.
Saudi Med J ; 27(7): 951-4, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16830010

RESUMO

OBJECTIVE: The diagnosis of cutaneous T-cell lymphoid infiltrates may be difficult based on clinical and routine immunohistologic findings. In this situation, an ancillary technique demonstrating the presence of a monoclonal cell proliferation could help to rule in or out cutaneous T-cell lymphoma (CTCL) in cases that clinically and histopathologically do not allow a definitive diagnosis. Southern blot analysis is a time-consuming method with low sensitivity that should not be considered for the routine diagnosis of cutaneous lymphoid infiltrates. Moreover, it can be used only when fresh tissue is available. New assays based on the amplification of the T-cell receptor gamma (TCR gamma) chain gene rearrangement by polymerase chain reaction (PCR) have been proposed to overcome these limitations. METHODS: We retrospectively studied 124 biopsies from 104 patients (66 biopsies with the clinical and histological diagnosis or suspicious of CTCL and 58 biopsies with histological diagnosis of benign reactive dermatological conditions who presented to the Dermatology Unit at King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia between 1996 and 2004. The specimens were morphologically examined and then analyzed by PCR for the gamma chain of the TCR gamma followed by gel electrophoresis. RESULTS: The results showed 87.1% sensitivity and 92% specificity in detecting clonal T-cell gene rearrangements among CTCL cases with a positive predictive value of 93.1% and negative predictive value of 85.2%. Therefore, negative TCR gamma results in CTCL should be taken with caution. CONCLUSION: The detection of clonal TCR gamma gene rearrangement by PCR based method is an adjuvant diagnostic marker for CTCL, although it can be seen in some benign dermatoses.


Assuntos
Rearranjo Gênico da Cadeia gama dos Receptores de Antígenos dos Linfócitos T/genética , Linfoma Cutâneo de Células T/genética , Neoplasias Cutâneas/genética , Biópsia , DNA de Neoplasias/análise , Humanos , Linfoma Cutâneo de Células T/diagnóstico , Reação em Cadeia da Polimerase/métodos , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Sensibilidade e Especificidade , Pele/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia
18.
Saudi Med J ; 26(10): 1516-22, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16228048

RESUMO

Over the last decade molecular diagnostics technology has developed dramatically from the most laborious, time- consuming southern blot methodology through the revolution of polymerase chain reaction PCR technology to the most reliable, fast, and contamination free molecular analyzer, the real-time quantitative-PCR. The Section of Hematology, Department of Pathology and Laboratory Medicine at King Faisal Specialist Hospital and Research Center has shared this experience during the last 10 years with more than 6,546 samples submitted for the analysis of different gene rearrangements, fusion gene transcripts and gene mutations including Ig heavy chain gene rearrangement for B-cell malignancies, T-cell receptor gamma chain gene rearrangement for T-cell malignancies, BCR/ABL-P210 and P190 fusion gene transcripts, for chronic myeloid leukemia and Philadelphia positive acute lymphoblastic leukemia, PML/RARalpha fusion gene for promyelocytic leukemia, AML1/ETO for acute myeloid leukemia AML-M2 with t8;21, CBFB/MYH11 for AML M4E0 with inv 16, BCL-2 for follicular lymphoma, and BCL-1 for mantle cell lymphoma. Hence, most molecular assays are qualitative in nature, quantitative assays are deemed necessary in the monitoring and follow-up of minimal residual disease in leukemia and lymphoma, and proved in our experience to serve as an essential tool to confirm complete remission CR post-chemotherapy and bone marrow transplantation, and to detect signs of early relapse for proper clinical intervention. In this manuscript, we retrospectively review our experience in molecular hematology and propose our recommended guidelines at King Faisal Specialist Hospital and Research Center.


Assuntos
Neoplasias Hematológicas/diagnóstico , Biologia Molecular/métodos , Medula Óssea/patologia , Feminino , Neoplasias Hematológicas/genética , Testes Hematológicos/métodos , Humanos , Masculino , Reação em Cadeia da Polimerase/métodos , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Sensibilidade e Especificidade
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