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1.
J Clin Immunol ; 33(1): 55-67, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22968740

RESUMEN

PURPOSE: Autosomal recessive hyper-IgE syndrome is a rare combined immunodeficiency characterized by susceptibility to viral infections, atopic eczema, high serum IgE and defective T cell activation. The genetic etiologies are diverse. Null mutations in DOCK8 and TYK2 are responsible for many cases. This study aims to provide a detailed clinical and immunological characterization of the disease and explore the underlying genetic defects among a large series of patients followed by a single center. The available data might improve our understanding of the disease pathogenesis and prognosis. METHODS: Clinical data of twenty-five patients diagnosed with AR-HIES were collected. Seventeen patients screened for STAT3, TYK2 and DOCK8 mutations. RESULTS: Sinopulmonary infections, dermatitis, hepatic disorders, cutaneous and systemic bacterial, fungal and viral infections were the most common clinical features. The rate of hepatic disorders and systemic infections were high. Twelve patients died with a median age of 10 years. CMV infection was the only statistically significant predicting factor for poor prognosis (early death). Three novel DOCK8 mutations and two large deletions were found in thirteen patients. No mutations found in STAT3 or TYK2 genes. CONCLUSION: Autosomal recessive hyper-IgE syndrome is a combined immunodeficiency disease characterized by high morbidity and mortality rate. The different genetic background and environmental factors may explain the more severe phenotypes seen in our series. DOCK8 defect is the most common identified genetic cause. Patients with no identified genetic etiology are likely to carry mutations in the regulatory elements of genes tested or in novel genes that are yet to be discovered.


Asunto(s)
Eliminación de Gen , Factores de Intercambio de Guanina Nucleótido/química , Factores de Intercambio de Guanina Nucleótido/deficiencia , Hospitales Especializados , Síndrome de Job/genética , Síndrome de Job/inmunología , Adolescente , Niño , Preescolar , Codón sin Sentido/genética , Femenino , Genes Recesivos/inmunología , Factores de Intercambio de Guanina Nucleótido/genética , Humanos , Inmunoglobulina E/efectos adversos , Inmunoglobulina E/sangre , Incidencia , Síndrome de Job/epidemiología , Masculino , Arabia Saudita/epidemiología , Prevención Secundaria
2.
Support Care Cancer ; 20(12): 3137-40, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22453792

RESUMEN

BACKGROUND: Suffering is an expression commonly used to describe distressing experience of cancer patients. Suffering experience among patients with advanced cancer has not been studied before in Saudi Arabia. OBJECTIVE: The objective of this study is to determine the pattern of suffering and the feasibility of measuring its severity on a numerical scale for cancer patients attending a palliative care outpatient clinic. METHODS: This is part of a larger survey studying the pattern of symptomatology in an outpatient palliative care clinic. Over a 5-month period, cancer patients attending an outpatient palliative care clinic were requested to rate their suffering as well as 11 listed symptoms on a 0-10 numerical scale. RESULTS: Of the 124 patients interviewed, 73 (59 %) were females. Only 15 patients (12 %) reported no suffering. For those who were suffering (88 %), the median score is 5. Suffering scores did not differ based on sex, age, or type of cancer. Patients with a Palliative Performance Scale of ≤50 % had significantly higher mean suffering score (6.8) compared to those with better performance status (4.8; P = 0.003). Multivariate analysis resulted in three independent variables showing a significant relationship to suffering score, namely pain (P = 0.018), tiredness (P = 0.022), and depression (P = 0.022). CONCLUSION: Patients with advanced cancer were able to easily rate their suffering on a numerical scale. Pain, tiredness, and depression were associated with the suffering scores. Suffering scores might help in tracing the trend of suffering in the individual patient over time.


Asunto(s)
Neoplasias/psicología , Cuidados Paliativos/psicología , Estrés Psicológico/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Estudios Transversales , Depresión/epidemiología , Depresión/psicología , Fatiga/epidemiología , Fatiga/etiología , Fatiga/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Neoplasias/complicaciones , Neoplasias/epidemiología , Pacientes Ambulatorios/psicología , Pacientes Ambulatorios/estadística & datos numéricos , Dolor/epidemiología , Dolor/etiología , Dolor/psicología , Prevalencia , Arabia Saudita/epidemiología , Índice de Severidad de la Enfermedad , Estrés Psicológico/etiología
3.
Saudi Med J ; 41(1): 25-33, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31915791

RESUMEN

OBJECTIVES: We determined the surgical and oncological outcomes of laparoscopic nephroureterectomy (LNU) in comparison to open nephroureterectomy (ONU) and factors predicting bladder recurrence after nephroureterectomy. Methods: We retrospectively reviewed and compared the data of patients who underwent ONU or LNU for non-metastatic, upper-tract urothelial carcinoma from 2000 to 2016. The primary endpoint was to determine bladder cancer recurrence-free survival (BCRFS), cancer-specific survival (CSS), and overall survival (OS). The data were analysed using Student's t-test, Chi-square test, and Kaplan-Meier curve. Results: Total of 50 patients, of which 24 had LNU and 26 had ONU, met the inclusion criteria. Median durations of follow-up were 4.2 and 6.5 years (p=0.1070) in LNU and ONU, respectively. Operative time, blood loss and hospital stay were significantly lower in the LNU group than in the ONU group (p=0.0001, p=0.0001, p=0.0018). Cancer-specific survival rate in the LNU was 75% and ONU was 73.3% (p=0.1902), whereas BCRFS and CSS were not significantly different in both groups (log-rank test; BCRFS: p=0.809 and CSS: p=0.802). Patients who underwent ureteroscopy with biopsy (p=0.001), had multifocality (p=0.001) and previous history of (H/O) bladder cancer (p=0.020) were at significant risk for developing bladder cancer recurrence after nephroureterectomy.  Conclusion: Laparoscopic nephroureterectomy can benefit patients because of its minimal invasiveness, and oncologic outcomes are comparable to ONU. Preoperative ureteroscopy with biopsy, multifocality and previous H/O bladder cancer might be risk factors for bladder cancer recurrence.


Asunto(s)
Carcinoma/cirugía , Laparoscopía , Nefroureterectomía/métodos , Neoplasias Urológicas/cirugía , Humanos , Resultado del Tratamiento
4.
Cancer Chemother Pharmacol ; 81(4): 697-704, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29429054

RESUMEN

INTRODUCTION: Cytopenia after hyperthermic intraperitoneal chemotherapy (HIPEC) with cytoreductive surgery (CRS) has been reported in non-comparative studies with various chemotherapeutic regimens. This study compared the incidence of leukopenia and thrombocytopenia in patients who underwent CRS/HIPEC and received melphalan or cisplatin plus mitomycin-c (CIS + MMC). METHODS: This retrospective study included patients who underwent CRS/HIPEC at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia from March 2011 to March 2017 and received melphalan 60 mg/m2 or CIS 100 mg/m2 combined with MMC 30 mg/m2. Incidences and severity of leukopenia, neutropenia, thrombocytopenia, and anemia were compared between groups. RESULTS: This study included 46 patients who received CIS + MMC and 35 patients who received melphalan. The leukopenia incidence was 25.7% in the melphalan group and 17.3% in the CIS + MMC group (P = 0.362), with one patient (2.8%) in the melphalan group developed grade V leukopenia. The number of days to leukocyte nadir was 32.8 days for CIS + MMC group compared to 9.8 days for melphalan group(P = 0.035). Thrombocytopenia occurred at a similar rate in the melphalan (60%) and CIS + MMC (68.8%) groups (P = 0.4). Grade III thrombocytopenia developed in 3.2% and 5% of patients in the melphalan and the CIS + MMC groups, respectively. Neutropenia did not occur in any patient. In multivariate analysis, leukopenia predictors were female gender (P = 0.047) and baseline leukocyte counts (P = 0.029). Baseline platelet count predicted thrombocytopenia (P < 0.001). CONCLUSIONS: Melphalan and CIS + MMC regimens were associated with comparable incidences of leukopenia and thrombocytopenia. Severe leukopenia and severe thrombocytopenia were rare following CRS/HIPEC using both chemotherapy regimens.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Quimioterapia del Cáncer por Perfusión Regional , Procedimientos Quirúrgicos de Citorreducción , Hipertermia Inducida , Neutropenia/epidemiología , Neoplasias Peritoneales/terapia , Trombocitopenia/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Cisplatino/administración & dosificación , Terapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Masculino , Melfalán/administración & dosificación , Persona de Mediana Edad , Mitomicina/administración & dosificación , Neoplasias Peritoneales/patología , Pronóstico , Estudios Retrospectivos , Arabia Saudita/epidemiología , Adulto Joven
5.
Cardiol Res ; 8(5): 220-227, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29118884

RESUMEN

BACKGROUND: The aim of this study was to determine if breast arterial calcification (BAC) on mammography predicts myocardial ischemia (MI) on stress myocardial perfusion single-photon emission computed tomography (MPS). BAC is a type of medial artery calcification that can be seen incidentally on mammography, but the relationship between coronary artery calcification and MI on MPS is yet unknown. METHODS: A total of 435 consecutive women underwent mammography and stress MPS within 1 year of each other. BAC was quantitatively evaluated (0 - 13). Patients with known coronary artery diseases (CADs) such as coronary artery bypass grafting (CABG), percutaneous coronary intervention (PCI), MI, positive coronary angiogram or positive MPS were excluded from the study. Risk factors for CAD were obtained from a chart review. RESULTS: The mean age was 58 ± 8 years. BAC was found in 258 (59%) of the study population. BAC-positive patients were significantly older than BAC-negative patients (P < 0.0001), there were strong associations between BAC and hypertension (P = 0.0309), chronic kidney disease (CKD) (P = 0.0001), and diabetes (P = 0.0309), but there were significant associations between BACV and hyperlipidemia, family history of CAD, and smoking (P = 0.6856, P = 0.9642, and P = 0.087, respectively). The mean score of BAC was 5 ± 5 in patients with normal MPS and was 6 ± 6 in patients with abnormal MPS. There were no associations between total BAC and MPS results (P = 0.2095), and between BAC categories and MPS result (P = 0.3069). CONCLUSIONS: Based on our study, the presence and severity of BAC on screening or diagnostic mammography do not predict MI on stress MPS, and further cardiac workup based on the presence of BAC is not warranted. BAC is very common in mammography up to 59% and associated with age, diabetes, CKD, and hypertension. In contrast, the prevalence of MI is only 13% in women with BAC and associated with age, diabetes, CKD, hyperlipidemia, and impaired left ventricular function.

6.
PLoS One ; 9(1): e80445, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24465366

RESUMEN

Hepatitis B virus (HBV) infection is a leading cause of liver diseases including cirrhosis and hepatocellular carcinoma. Human leukocyte antigens (HLAs) play an important role in the regulation of immune response against infectious organisms, including HBV. Recently, several genome-wide association (GWAS) studies have shown that genetic variations in HLA genes influence disease progression in HBV infection. The aim of this study was to investigate the role of HLA genetic polymorphisms and their possible role in HBV infection in Saudi Arabian patients. Variations in HLA genes were screened in 1672 subjects who were divided according to their clinical status into six categories as follows; clearance group, inactive carriers, active carriers, cirrhosis, hepatocellular carcinoma (HCC) patients and uninfected healthy controls. Three single nucleotide polymorphisms (SNPs) belonged to HLA-DQ region (rs2856718, rs7453920 and rs9275572) and two SNPs belonged to HLA-DP (rs3077 and rs9277535) were studied. The SNPs were genotyped by PCR-based DNA sequencing (rs2856718) and allele specific TaqMan genotyping assays (rs3077, rs7453920, rs9277535 and rs9275572). The results showed that rs2856718, rs3077, rs9277535 and rs9275572 were associated with HBV infection (p = 0.0003, OR = 1.351, CI = 1.147-1.591; p = 0.041, OR = 1.20, CI = 1.007-1.43; p = 0.045, OR = 1.198, CI = 1.004-1.43 and p = 0.0018, OR = 0.776, CI = 0.662-0.910, respectively). However, allele frequency of rs2856718, rs7453920 and rs9275572 were found more in chronically infected patients when compared to clearance group infection (p = 0.0001, OR = 1.462, CI = 1.204-1.776; p = 0.0178, OR = 1.267, CI = 1.042-1.540 and p = 0.010, OR = 0.776, CI = 0.639-0.942, respectively). No association was found when polymorphisms in HLA genes were compared in active carriers versus cirrhosis/HCC patients. In conclusion, these results suggest that variations in HLA genes could affect susceptibility to and clearance of HBV infection in Saudi Arabian patients.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Antígenos HLA/genética , Hepatitis B Crónica/genética , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Alelos , Carcinoma Hepatocelular/epidemiología , Carcinoma Hepatocelular/genética , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Pruebas Genéticas , Genotipo , Antígenos HLA-DP/genética , Antígenos HLA-DQ/genética , Haplotipos , Hepatitis B Crónica/epidemiología , Humanos , Desequilibrio de Ligamiento , Cirrosis Hepática/epidemiología , Cirrosis Hepática/genética , Neoplasias Hepáticas/epidemiología , Neoplasias Hepáticas/genética , Masculino , Persona de Mediana Edad , Arabia Saudita/epidemiología , Adulto Joven
7.
Indian J Palliat Care ; 18(2): 98-102, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-23093824

RESUMEN

BACKGROUND: Epidemiology of cancer-related nonpain symptoms receives less attention in literature as compared with cancer pain. OBJECTIVE: This paper aims at exploring the prevalence and severity of nonpain symptoms in cancer patients attending a palliative care (PC) outpatient clinic. MATERIALS AND METHODS: Over a 5 months period, consecutive adult cancer patients attending PC outpatient clinic at a tertiary hospital were evaluated for the presence and severity of 10 nonpain symptoms. Patients were grouped to new or follow-up cases and were also grouped according to performance status and cancer type. Prevalence and severity of symptoms were compared between groups using t test or analysis of variance as appropriate. RESULTS: Fifty-one males and 73 females were interviewed. The most common cancer is female breast (27.4%) followed by head and neck (15.3%). Majority of patients (67%) were new to PC clinic. Patients had 5.1 nonpain symptoms on average, with most common symptoms being tiredness (79.8%), loss of appetite (71.8%), dry mouth (69.4%), anxiety (60.5%), and depression (50.8%). The least common symptoms were confusion and nausea (22.6% each). The median scores of severity were highest for tiredness, loss of appetite, dry mouth, and insomnia (5 points each). Symptoms were fewer among patients with good performance status (P = 0.002), whereas age, gender, cancer type, and encounter type were not associated with difference in symptom prevalence. Younger patients, females and those with poor performance status have shown a tendency toward higher severity scores for several symptoms. CONCLUSION: The significant prevalence and severity of nonpain symptoms among new and follow-up cancer patients seen in a PC outpatient clinic emphasizes the need for comprehensive assessment and routinely audited symptom management plans.

8.
Oncol Lett ; 2(2): 363-369, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22866089

RESUMEN

Breast cancer remains a worldwide public health concern. The incidence and mortality of breast cancer varies significantly in ethnically and geographically distinct populations. In the Kingdom of Saudi Arabia (KSA) breast cancer has shown an increase in incidence and is characterized by early onset and aggressiveness. The tumor suppressor TP53 gene is a crucial genetic factor that plays a significant role in breast carcinogenesis. Furthermore, studies have shown a correlation between certain p53 mutations and response to therapy in breast cancer. In the present study, TP53 mutations were identified by direct sequencing of the gene (exons 4-9) from 119 breast cancer tissues. The prevalence of TP53 mutations in Arab breast cancer patients living in the KSA is among the highest in the world (40%). Notably, 73% of the patients whose tumors harbored p53 mutations were less than 50 years of age. Furthermore, for the first time, we identified 7 novel mutations and 16 mutations in breast cancer tissues. Notably, all the novel point mutations were found in exon 4, wherein 29% of the mutations were localized. Furthermore, an excess of G:C→A:T transitions (49%) at non-CpG sites was noted, suggesting exposure to particular environmental carcinogens such as N-nitroso compounds. The results indicate that the TP53 gene plays a significant role in breast carcinogenesis and the early onset of the disease among Arab female individuals.

9.
Transplantation ; 90(2): 184-8, 2010 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-20463642

RESUMEN

BACKGROUND: Transplant tourism is the term used for patients who travel abroad for transplantation. Transplant tourism has always been surrounded with controversy regarding how these organs were obtained, the donor's care after transplantation, and the recipient outcome. Many authors have found that the outcome of the recipients in transplant tourism is inferior to those transplanted in their own countries. However, most these studies were small, with the latest one including only 33 patients. Here, we describe the outcome of 93 patients who were transplanted abroad compared with local transplantation. MATERIAL AND METHODS: All transplant patients who were followed up at our Nephrology Clinic from 1998 until 2008 were identified using our data base system. We selected patients transplanted from 2003 and forward because the computerized system for laboratory and electronic records began operation that year. RESULTS: A total of 165 patients were identified (93 in the tourist group and 72 in the local one). Transplant tourists had a higher rate of acute rejection in the first year compared with local transplantation (27.9% vs. 9.9, P=0.005), higher mean creatinine at 6 months and 1 year (120 vs. 101 micromol/L, P=0.0007, 113 vs. 98 micromol/L, P=0.008). There was no statistical difference in graft or patient survival in 1 or 2 years after transplantation. However, transplant tourist had a higher rate of cytomegalovirus infection (15.1% vs. 5.6%, P=0.05) and hepatitis C seroconversion (7.5% vs. 0%, P=0.02). CONCLUSION: Transplant tourists had a more complex posttransplantation course with higher incidence of acute rejection and infectious complications.


Asunto(s)
Trasplante de Riñón/estadística & datos numéricos , Turismo Médico/estadística & datos numéricos , Adulto , Creatinina/sangre , Infecciones por Citomegalovirus/epidemiología , Egipto , Femenino , Estudios de Seguimiento , Rechazo de Injerto/epidemiología , Supervivencia de Injerto , Hepatitis C/epidemiología , Humanos , Terapia de Inmunosupresión/métodos , Trasplante de Riñón/efectos adversos , Trasplante de Riñón/mortalidad , Masculino , Persona de Mediana Edad , Pakistán , Filipinas , Terapia de Reemplazo Renal/estadística & datos numéricos , Reoperación/estadística & datos numéricos , Análisis de Supervivencia , Donantes de Tejidos/estadística & datos numéricos
10.
Obes Surg ; 19(11): 1491-6, 2009 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19847572

RESUMEN

BACKGROUND: Laparoscopic sleeve gastrectomy (LSG) has been recently introduced as a stand-alone, restrictive bariatric surgery. Theoretically, LSG attenuates micronutrients deficiencies and associated complications that typically observed following malabsorptive procedures. The aim of this study was to assess iron indices and the 1-year incidence of iron deficiency in patients undergoing LSG. METHODS: This was a prospective, cohort study; patients who underwent LSG from June 2007 to April 2008 at our institution were screened for inclusion. Preoperative hemoglobin and iron indices including serum iron, transferrin saturation, ferritin, and soluble transferrin receptor were compared to their levels at 6 and 12 months after surgery. Similarly, vitamin B12 and red blood cell (RBC) folate were analyzed as secondary end points. Weight parameters and C-reactive protein (CRP) levels were compared before surgery and 1 year postoperatively. RESULTS: A total of 61 patients were included in the study. One year after surgery, there was a significant decrease in the mean body mass index from 47.5 +/- 9.6 to 30.5 +/- 6.5 (P < 0.001). The incidence of iron deficiency was 4.9% at both follow-up time points. Anemia was evident in 4.9% of patients 1 year postoperatively. Significant decrease in the means of the natural logarithm of vitamin B12 and RBC folate were observed as early as 6 months after surgery (P = 0.014; P < 0.005, respectively). The decrease in mean CRP level 12 months postoperatively was statistically significant compared to its preoperative value (P < 0.0001). CONCLUSION: LSG is an effective procedure for the treatment of morbid obesity and its associated inflammatory state. One year after surgery, development of iron deficiency was insignificant.


Asunto(s)
Anemia Ferropénica/epidemiología , Gastrectomía , Deficiencias de Hierro , Hierro/sangre , Obesidad Mórbida/cirugía , Pérdida de Peso , Anemia Ferropénica/sangre , Anemia Ferropénica/etiología , Índice de Masa Corporal , Proteína C-Reactiva/metabolismo , Estudios de Cohortes , Enfermedades Carenciales/sangre , Enfermedades Carenciales/epidemiología , Enfermedades Carenciales/etiología , Eritrocitos/química , Femenino , Ferritinas/sangre , Ácido Fólico/sangre , Gastrectomía/efectos adversos , Humanos , Laparoscopía , Masculino , Obesidad Mórbida/sangre , Obesidad Mórbida/complicaciones , Complicaciones Posoperatorias/sangre , Complicaciones Posoperatorias/epidemiología , Estudios Prospectivos , Receptores de Transferrina , Transferrina/metabolismo , Vitamina B 12/sangre , Pérdida de Peso/fisiología
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