Genetic Counseling in Kidney Disease: A Perspective.

As genetic testing is increasingly integrated into nephrology practice there is a growing need for partnership with genetic experts. Genetic counselors are ideally suited to fill this role. The value of genetic counseling is born out of the clinical value of genetic test results against the backdrop of the complexity of genetic testing. Genetic counselors who specialize in nephrology are trained to understand and explain the potential effects of genes on kidney disease, which can enable patients to make informed decisions about proceeding with genetic testing, navigating variants of uncertain significance, educating on extrarenal features of hereditary kidney disease, facilitating cascade testing, providing post-test education about testing results, and assisting with family planning. Genetic counselors can partner with the nephrologist and provide the knowledge needed to maximize the use of genetic testing for patients for nephrology consultation. Genetic counseling is more than an element or extension of genetic testing; it is a dynamic, shared conversation between the patient and the genetic counselor where concerns, sentiments, information, and education are exchanged, and value-based decision making is facilitated.

Impacts of RETN genetic polymorphism on breast cancer development in Beni-Suef females, Egypt.

Breast cancer is the most common cancer among females with increasing incidence and death rates. Resistin is pro-inflammatory molecule which shares in diverse cellular signaling pathways. This study aimed to evaluate resistin and RETN rs3219175 gene polymorphism and their relevance to diagnostic susceptibility, prognostic value, and genetic risk among Egyptian female patients with breast cancer. Eighty female patients with breast cancer were recruited from the Oncology Department, Faculty of Medicine, Beni-Suef University. Breast cancer staging and grading were determined. Eighty age-matched normal females participated as controls. Quantitative determination of serum resistin was assayed by an enzyme-linked immunosorbent assay (ELISA). RETN rs3219175 gene polymorphism was determined by real time polymerase chain reaction (RT-PCR) TaqMan allelic discrimination assay. Serum resistin showed statistically significantly higher level among females with breast cancer when compared to controls (p < 0.001). Resistin showed sensitivity of 80% and specificity of 67.5% at cut off value of 1.27 ng/mL for diagnosis of breast cancer (p =0.001). RETN rs3219175 gene polymorphism showed significantly higher frequency of AG, AA genotypes, and A allele among cases when compared to controls (p < 0.001). No statistical difference was found in resistin level or RETN rs3219175 gene polymorphism regarding tumor characteristics including size, lymph nodes or distant metastasis. Resistin showed significantly higher level among carriers of AG followed by AA genotypes and among A allele (p < 0.001). In conclusion, resistin could be proposed as a possible potential diagnostic marker and A allele of RETN rs3219175 gene might be suggested as a genetic risk allele among female patients with breast cancer.

Impact of Cognitive Dysfunction in the Middle East Depressed Patients: The ICMED Study.

BACKGROUND: Major depressive disorder is a common condition with a high rate of recurrence, chronicity, and affecting economic burden, including disability in the workplace, which leads to negative consequences on both individuals and society. OBJECTIVES: This study aimed to estimate the impact of cognitive dysfunction, as declared by the patient, on performing daily tasks/activities among patients with major depression disorder (MDD). METHODS: This investigation is based on multinational cross-sectional survey of 499 workers recruited from the Kingdom of Saudi Arabia (KSA) and United Arab Emirates (UAE). We assessed the severity of depression by Hamilton Depression Rating Scale (HDRS). Impact of Depression in the Workplace in Europe Audit (IDEA) survey and trial making test (TMT) parts A and B were used to assess the impact of cognitive dysfunction on performing daily tasks/activities in adult patients presented with MDD. RESULTS: A total of 499 persons were included in this study, aged 18-66 years, current workers and managers. Of them, 17.8% were normal (remitted), 22.4% were mildly depressed, 23.4% were moderately depressed, 8.6% were severely depressed, and 27.7% were very severely depressed at the time of the study according to HDRS. Common symptoms attributable to depression were low mode or sadness (89.8%), followed by insomnia (75.2%) and crying (70.9%). Of them, low mode or sadness was the most common factor affecting the work performance (90.2%). About 66.3% of participants diagnosed with depression by a doctor/medical professional. Awareness of the disease was recognizable by patients' managers in only 31.9% of the cases. Furthermore, 45.3% of cases had taken off work due to depression with mean duration of 38.7 (95% CI 37.7 to 39.7) days. The mean TMT parts A and B score were 69.2 (95% CI 66.3 to 72.2) and 126.6 (95% CI 121 to 132), respectively. Lastly, a significant positive correlation between the mean score for HDRS and TMT-A and B scores was observed. CONCLUSION: Depression affects work productivity and work environment with negative consequences to countries' economy. Awareness of depression in the workplace in KSA and UAE is still suboptimal. The personal and societal burden of this issue cannot be neglected when we become aware of the proportion of affected people.

Use of second-generation antipsychotics in the acute inpatient management of schizophrenia in the Middle East.

BACKGROUND: Management of acute psychotic episodes in schizophrenic patients remains a significant challenge for clinicians. Despite treatment guidelines recommending that second-generation antipsychotics (SGAs) should be used as monotherapy, first-generation antipsychotics, polypharmacy, and lower than recommended doses are frequently administered in clinical practice. Minimal data exist regarding the use of SGAs in the Middle East. The objective of this study was to examine the discrepancies between current clinical practice and guideline recommendations in the region. METHODS: RECONNECT-S Beta was a multicenter, noninterventional study conducted in Egypt, Kuwait, Saudi Arabia, and the United Arab Emirates to observe the management of schizophrenic patients who were hospitalized due to an acute psychotic episode. Patients underwent one visit on the day of discharge. Demographic and medical history, together with data on antipsychotic treatment and concomitant medication during the hospitalization period and medication recommendations at discharge were recorded. RESULTS: Of the 1,057 patients, 180 (17.0%) and 692 (65.5%) received SGAs as monotherapy and in combination therapy, respectively. Overall, the most frequently administered medications were given orally, and included risperidone (40.3%), olanzapine (32.5%), and quetiapine (24.6%); the doses administered varied between countries and deviated from the recommended guidelines. Upon discharge, 93.9% of patients were prescribed SGAs as maintenance therapy, and 84.8% were prescribed the same medication(s) as during hospitalization. CONCLUSION: Current clinical practice in the Middle East differs from guideline recommendations. Patients frequently received antipsychotics in combination therapy, by various methods of administration, and at doses above and below the recommended guidelines for the management of their acute psychotic episodes.

Nephrogenic systemic fibrosis: what internists need to know.

Nephrogenic systemic fibrosis (NSF) is an emerging entity that affects the skin and internal organs in patients with renal insufficiency and may end in death. More than 215 cases have been reported to the NSF registry at Yale University and more than 700 cases have been reported world-wide. There is a growing concern about gadolinium contrast media as being the major player in NSF development. Given the lack of established effective therapy, gadolinium avoidance along with careful consideration of the predisposing factors is the vital approach. Clinicians must be aware of the risks and benefits of gadolinium administration especially in patients with chronic kidney disease.

An evidence-based approach to minimise contrast-induced nephropathy.

Contrast-induced nephropathy is a significant cause of iatrogenic renal injury and its incidence is growing due to the increasing number of diagnostic and interventional procedures being performed. It is the third most common cause of hospital-acquired acute renal failure, adding to patient morbidity and mortality, and extending hospital stay.

Cost and outcome of treatment of adults with acute myeloid leukemia at the National Cancer Institute-Egypt.

BACKGROUND: Despite important advances in the therapy of acute myeloid leukemia (AML), the majority of patients die of their disease, unless bone marrow transplantation (BMT) is done. Infection and hemorrhage are still the major causes of mortality in AML patients. Progress in therapy and supportive care has led to gradual improvement in the overall results, but further improvements are still needed. PATIENTS AND METHODS: The aim of this study is to identify the outcome and costs of adult AML patients treated with conventional chemotherapy (CCT) at the National Cancer Institute (NCI), Cairo University during the time period from April 1999 to January 2002. Clinical, laboratory characteristics were all recorded. Data regarding different types of therapies given for these patients including response, outcome and costs were also collected. RESULTS: The median age of 82 identified AML patients was 34 years. The complete remission (CR) rate after induction with CCT was 52% (42/82 patients) with a median CR duration of 9 months. Twenty-eight percent of patients who achieved CR subsequently relapsed. By January 2003, fifty-eight patients were dead (70.7%). Infections were the major mortality cause, followed by disease progression then bleeding (65% , 28% and 7% respectively). The median treatment cost per patient was 33158 Egyptian Pounds (LE). It was higher for patients who achieved CR compared to those who relapsed and/or died. Drugs contributed by 78 % to the total treatment cost, while hospitalization, investigations and blood-component therapy contributed by 6%, 7% and 8% respectively. CONCLUSIONS: Outcome of patients with AML treated at NCI- Cairo University can be enhanced by improvement of supportive therapy; mainly infection control and expanding BMT programs to accommodate all eligible patients.

A prognostic index (bladder prognostic index) for bilharzial-related invasive bladder cancer.

PURPOSE: Bladder cancer is still the most common solid tumor among adult males in Egypt because of the prevalence of bilharzial infestation, especially in the countryside. In this prospective study, we have recorded the prognostic factors for 180 patients with invasive bladder cancer for whom standard radical cystectomy had been performed to develop a prognostic index (bladder prognostic index) that defines high risk patients who are more vulnerable to disease relapse after surgery and who may benefit from additional therapy. PATIENTS AND METHODS: The study was performed between January 1997 and December 1999, in which 180 patients with histopathologically proved invasive bladder cancer associated with bilharziasis underwent radical cystectomy or anterior pelvic exenteration. After surgery, patients were regularly followed for a minimum of 2 years. RESULTS: Our patients included 141 males and 39 females. Squamous cell carcinoma was the most common type (53.3%), and most of the tumors were grade II (61.1%). A total of 173 patients had their tumors operable, while 7 were inoperable. We had 5 (2.8%) operative related mortalities. At 5 years postoperatively, free and overall survival rates for the whole group of patients were 31.44%+/-5.9% and 32.5%+/-6.8%, respectively. Tumor pathologic stage, grade, and nodal affection were the only significant factors with impact on survival (P=0.008, 0.051, and 0.004, respectively). These 3 prognostic indexes were used to design a model to predict an individual patient's risk factor for recurrence. Patients were then assigned to one of the 4 risk groups according to the score achieved in this prognostic index (0=low risk, 1=intermediate risk, and 2 or 3=higher risk). These 4 risk groups had distinctly different rates of disease-free survival, i.e., 91.7%, 53%, 13%, and 7% for low, intermediate, and higher risk groups, respectively. CONCLUSION: Although this prognostic index appears to be of a significant clinical relevance, it needs to be more validated on a larger number of patients, and it could be a surrogate variable for biologic factors responsible for the heterogeneity of bladder cancer.