Clinical and genetic characteristics of hemoglobin H disease in Iran.

Hemoglobin H (Hb H) disease is a subtype of α-thalassemia caused by deletional and/or non-deletional mutations in three alpha-globin genes in which the various genotypes determine the disease severity. This study was aimed to investigate the frequency of alpha gene mutations and genotypes and their correlation with hematological and clinical characteristics in Iran. Among 202 patients diagnosed with Hb H disease through a national study in Iran according to standard methods, we had access to the hematologic and clinical findings and genetic data of 101 patients in whom genetic study was performed. Genomic DNA from peripheral blood was extracted and analyzed for identification of α-globin gene mutations using Multiplex Gap Polymerase Chain Reaction, Reverse Hybridization Assay, and finally Direct DNA Sequencing method. Twenty-one different mutations and thirty genotypes were detected in 101 patients with Hb H disease. In total, 39 patients (38.6%) were deletional and 62 patients (61.4%) were non-deletional type of the disease. The --MED mutation was highly prevalent in almost half of the patients (56.4%). Among various genotypes, -MED/-a3.7 (29.7%) and -α20.5/-α5NT (6.9%) were the most prevalent genotypes found in the studied group. Patients with non-deletional type presented with more severe hematological and clinical findings. Hb H percentage and serum ferritin levels were significantly higher in non-deletional patients in comparison to the deletional group (p < 0.05). 12 (11.9%) and 40 (39.6%) out of 101 patients were on regular and occasional transfusions, respectively. 83% of those with regular transfusion belonged to the non-deletional group. Among transfusion-dependent patients, -MED/αCSα and α20.5/-α5NT were the most common genotypes. In this study, two patients with -α20.5/αCSα and -MED/α-5NT genotypes experienced thrombotic events. This study indicated that although non-deletional genotypes of Hb H disease were responsible for more clinical severity of the disease, due to the presence of severe phenotypes even in deletional types, no definite correlation was found between genotype and phenotype.

What is the impact of extracorporeal shock wave lithotripsy on semen parameters? A systematic review and meta-analysis.

BACKGROUND: Extracorporeal shock wave lithotripsy (ESWL) is an important tool for the management of urolithiasis. The effects of shockwaves on tissues are established. The aim of this meta-analysis is to evaluate the microscopic semen characteristics of young men before and after ESWL treatment for lower ureteral calculi. METHODS: Literature searches were performed following the Cochrane guidelines. We conducted a systematic review and meta-analysis that included six trials that investigated the effects of ESWL on semen parameters, including sperm concentration, motility, and hematospermia. Meta-analyses were performed using fixed and random-effects models with tests for publication bias and heterogeneity. RESULTS: Significant worsening was detected in sperm concentration and motility after ESWL between case and control groups (mean difference -17.23, 95% confidence interval -22.53 to -11.93, p<0.00001, mean difference -10.82, 95% confidence interval -18.56 to -3.07, p = 0.006). Rate of microscopic and macroscopic hematospermia was significantly higher after ESWL between case and control groups [risk ratio (RR) 40.00, 95% confidence interval 10.11-158.30, p<0.00001, RR 14.33, 95% confidence interval 2.82-72.90, p = 0.001]. All parameters recovered after 3 months. CONCLUSIONS: This study showed sperm concentration, motility, and rate of hematospermia (microscopic and macroscopic) were affected by ESWL that was used for the treatment of lower ureteral stone. Long-term studies with a focus on male fertility (i.e., pregnancy rates) after ESWL are warranted.

Laparoscopic management of caliceal diverticulum: our experience, literature review, and pooling analysis.

Caliceal diverticulum management has been performed using various modalities, including ureteroscopy, percutaneous treatment, and laparoscopy. We present our experience with laparoscopic management of caliceal diverticulum in two patients with large caliceal diverticulum and a history of failed open surgery because of the incorrect diagnosis of a simple renal cyst. In laparoscopy, both patients had an uneventful intraoperative and postoperative course. On follow-up, both of them were symptom free without any evidence of diverticulum in imaging. We reviewed the literature and found that laparoscopic management of caliceal diverticulum has been reported in 37 adult patients other than our cases. We performed a pooling analysis and discussed different aspects of the approach.

Childhood physical abnormalities following paternal exposure to sulfur mustard gas in Iran: a case-control study.

BACKGROUND: Mustard gas, a known chemical weapon, was used during the Iran-Iraq war of 1980-1988. We aimed to determine if exposure to mustard gas among men was significantly associated with abnormalities and disorders among progenies. METHODS: Using a case-control design, we identified all progenies of Sardasht men (exposed group, n = 498), who were born at least nine months after the exposure, compared to age-matched controls in Rabat, a nearby city (non-exposed group, n = 689). We conducted a thorough medical history, physical examination, and appropriate paraclinical studies to detect any physical abnormality and/or disorder. Given the presence of correlated data, we applied Generalized Estimating Equation (GEE) multivariable models to determine associations. RESULTS: The overall frequency of detected physical abnormalities and disorders was significantly higher in the exposed group (19% vs. 11%, Odds Ratio [OR] 1.93, 95% Confidence Interval [CI], 1.37-2.72, P = 0.0002). This was consistent across sexes. Congenital anomalies (OR 3.54, 95% CI, 1.58-7.93, P = 0.002) and asthma (OR, 3.12, 95% CI, 1.43-6.80, P = 0.004) were most commonly associated with exposure. No single abnormality was associated with paternal exposure to mustard gas. CONCLUSION: Our study demonstrates a generational effect of exposure to mustard gas. The lasting effects of mustard gas exposure in parents effects fertility and may impact child health and development in the long-term.

Current status of Gil-Vernet trigonoplasty technique.

Significant controversy exists regarding vesicoureteral reflux (VUR) management, due to lack of sufficient prospective studies. The rationale for surgical management is that VUR can cause recurrent episodes of pyelonephritis and long-term renal damage. Several surgical techniques have been introduced during the past decades. Open anti-reflux operations have high success rate, exceeding 95%, and long durability. The goal of this article is to review the Gil-Vernet trigonoplasty technique, which is a simple and highly successful technique but has not gained the attention it deserves. The mainstay of this technique is approximation of medial aspects of ureteral orifices to midline by one mattress suture. A unique advantage of Gil-Vernet trigonoplasty is its bilateral nature, which results in prevention from contralateral new reflux. Regarding not altering the normal course of the ureter in Gil-Vernet procedure, later catheterization of and retrograde access to the ureter can be performed normally. There is no report of ureterovesical junction obstruction following Gil-Vernet procedure. Gil-Vernet trigonoplasty can be performed without inserting a bladder catheter and drain on an outpatient setting. Several exclusive advantages of Gil-Vernet trigonoplasty make it necessary to reconsider the technique role in VUR management.

Revisiting blood transfusion preparedness: experience from the Bam earthquake response.

Blood transfusion plays a critical role in the provision of medical care for disasters due to man-made and natural hazards. Although the short-term increase in blood donations following national disasters is well-documented, some aspects of blood transfusion during disasters remain under study. The 2003 earthquake in Bam, Iran resulted in the death of >29,000 people and injured 23,000. In total, 108,985 blood units were donated, but only 21,347 units (23%) actually were distributed to hospitals around the country. Kerman Province, the site of the disaster, received 1,231 (1.3%) of the donated units in the first four days after the disaster. The Bam experience revealed crucial missteps in the development of a post-event strategy for blood product management, and led to the development of a detailed disaster preparedness and response plan that addresses issues of donation, distribution, communication, transportation, and coordination. The current plan requires the Iranian Blood Transfusion Organization to convene a disaster task force immediately as the main coordinator of all disaster preparedness and response activities.

Thalassemia in Iran: epidemiology, prevention, and management.

PURPOSE: To determine the prevalence and geographic distribution of thalassemia and to evaluate the success of the thalassemia prevention and treatment programs in Iran. METHODS: Data were obtained from the National Thalassemia Registry of Iran, Iranian Blood Transfusion Organization, genetic laboratories involved in prenatal diagnosis, related pharmaceutical companies, and centers performing bone marrow transplantation for thalassemic patients. RESULTS: A total of 13,879 living patients have been registered, mostly from the northern and southern parts of Iran with the median age of 15 years. Twenty-three percent of patients were older than 20 years. The number of newly diagnosed cases has been decreased considerably after the start of the prevention program. Since the introduction of prenatal diagnosis, 2819 couples (2549 fetuses) have been tested, with only 6 false results. Elective abortion was not performed in 10 affected fetuses. Most common mutations detected were IVS II-1 and IVS I-5. In 2003, approximately 25% of the national blood products and 6 million vials of desferal were used for thalassemic patients. Overall, 340 patients have received allogeneic bone marrow transplantation, of those 46 patients deceased. Bloodborne infections have also been decreased significantly owing to the national screening of blood products for bloodborne viral infections. DISCUSSION: Owing to the national prevention program and provided special care, the age distribution of thalassemic patients in Iran is getting adapted to a full prevention and treatment program and life expectancy of these patients has been increased considerably. This shift in the age distribution of thalassemia, a traditionally considered pediatric disease, will face us with new challenges and the health care system should be prepared for this new face of thalassemia.