New single nucleotide variation in the promotor region of androgen receptor [AR] gene in hypospadic patients

Hypospadias is one of the most common congenital abnormalities in the male which is characterized by altered development of urethra, foreskin and ventral surface of the penis. Androgen receptor gene plays a critical role in the development of the male genital system by mediating the androgens effects. In present study, we looked for new variations in androgen receptor promotor and screened its exon 1 for five single nucleotide polymorphisms [SNP] in healthy and hypospadias Iranian men. In our study, at first DNA was extracted from patients [n=100] and controls [n=100] blood samples. Desired fragments of promoter and exon 1 were amplified using polymerase chain reaction. The promoter region was sequenced for the new variation and exone 1 screened for five SNPs [rs139767835, rs78686797, rs62636528, rs62636529, rs145326748] using restriction fragment length polymorphism technique. The results showed a new single nucleotide variation [CT] at -480 of two patients' promoter region [2%]. None of the mentioned SNPs were detected in patients and controls groups [0%].This finding indicates that new single nucleotide polymorphism in androgen receptor promoter may have role in etiology of hypospadias and development of this anomaly

Pediatric germ cell tumors; a 10-year experience

The aim of this study was to evaluate the outcome of germ cell tumors in patients admitted to our center during a ten year period. In a retrospective descriptive study, patients with the pathological diagnosis of germ cell tumor [GCT] were included. All records were evaluated and patients followed by personal visit in clinic or phone call. Data regarding age, sex, tumor site, bio-chemical assay, pathology, treatment and outcomes were gathered. For qualitative variables we computed frequency and percentage and for quantitative variables, mean and standard deviation. Survival analysis was performed using Kaplan-Meier. All statistical analyses were performed by SPSS version 6.0. Forty four patients consisted of 32 girls [72.7%] and 12 boys [27.3%]. Their median age was 23 months. The most common pathological tumor types were 18 [40.9%] mature teratomas and 14 [31.8%] yolk sac tumors. Extra gonadal tumors were more prevalent [32 cases] and consisted of 21 [47.7%] sacrcoccygeal, 7 [15.9%] retroperitoneal, 2 [4.4%] mediastinal and 2 [4.4%]cervical tumors. In gonadal tumors 9 patients had ovarian and 3 patients testicular involvement. Staging at the time of diagnosis revealed stage one in 23 [52.3%] cases. All patients were treated surgically and the most common procedure was total resection in 41 [93.2%] patients. Fifteen [34.1%] patients received chemotherapy. In follow-up 31 [77.5%] patients were in complete remission, 9 [22.5%] had died, and 4 cases did not appear to follow-up visits. The median survival was 16 months [IQR 4-49 months]. The highest mortality rate was found in patients with yolk sac tumors [8 of 13 cases]. The patients with extra-gonadal GCT and a high AFP level have the worst prognosis and lower survival rate. Combination of surgery and chemotherapy can lead to a better prognosis

Treatment outcome of neurogenic bladder dysfunction in children; a five-year experience

A neurogenic bladder is one which functions abnormally due to disorders of sacral nerves that control the bladder's ability to fill, store and empty urine. Abnormal bladder function can cause the bladder to be underactive or overactive. This study was planned to evaluate the treatment outcome of our patients with neurogenic bladder dysfunction [NGBD]. Thirty three patients who have been treated for NGBD were evaluated. Diagnosis was confirmed by voiding-cysto-urethrography [VCUG] and urodynamic study. The patients were treated medically and all had clean intermittent catheterization [CIC]. Data regarding age, sex, clinical and paraclinical findings, sonography, imagings, renal scan, associated anomalies, treatment and outcomes were collected and entered in SPSS software version 18 and analyzed by descriptive statistical. Totally 33 patients aged three days to four years [mean 6.8 months] were included in this study. There were 20 [61%] males and 13 [39%] females. Mean follow-up period was 3.4 +/- 1.2 years [1.5 months to 5 years]. Eighty two precent cases had bilatral and 18% unilatral hydronephrosis and bilatral vesicouretral reflux [VUR] existed in 67% and unilatral in 33% of the patients. Treatment consisted of antibiotherapy and CIC in all patients, which was only in 33% of the cases succesful. The most common associated anomaly was meningomyelocle in 8 patients. Vesicostomy was performed in 22 [67%] cases. Kidney scan showed scar in 10 patients at follow-up study. Complete continence on follow-up was achieved in 24 [71%] patients, and it was improved in 6 [18%] cases. Mortality rate was 9% [3 cases]. Cure rate was 85% in urinary tract infection, 82.7% in hydronephrosis, 80% in VUR and 86.5% in kidney function. Anticholinergic medications was not effective in all our patients. We believe that permanent vesicostomy is an effective and acceptable surgical intervention for protection of upper urinary tract decompression, especially in those who do not respond to medical treatment and have high risk position

Posterior urethral valves; a single center experience

Posterior urethral valves [PUV] are the most common cause of bladder outlet obstruction in infancy that impair renal and bladder function. This study was planned to evaluate and record the various clinical presentations and management, complications, and surgical management and long-term outcome of PUV. In a retrospective study, 98 patients who have been treated for PUV are evaluated in Mofid Children's Hospital from January 2007 to December 2012. Detailed history taken and paraclinical examinations were performed in each patient and diagnosis was confirmed by voiding-cysto-urethrography [VCUG]. PUV had been ablated in 62 patients by electric hook, and diversion was performed in 42 [42.85%] cases. Data were analyzed by SPSS software versionlS. Totally 98 patients with mean age at diagnosis 62 [ +/- 13] days were included in this study. Fifty seven cases had been catheterized within one to 6 days of life [mean age one day], PUV was ablated in 62 patients by electric hook, and dive rsion was performed in 42 cases. The most common symptom in our group was dribbling poor stream 51% and urinary tract infection [UT1] 40.8%. There was vesicoureteral-reflux [VUR] in 61.2%, and hydronephrosis in 82.6%. Most common associated anomaly was kidney anomalies [multicystic kidney disease and renal agenesis/dysplasia] in 8 [8.2%] patients. Twenty patients had prenatal diagnosis of PUV. Complication occurred in three [3.1%] patients. Mortality occurred in 5 [5.1%] patients. Mean follow-up period was 3.4 +/- 1.2 years [1.5 months to 5 years]. Urinary drainage by feeding tube in early days of infancy, followed by valve ablation is the best treatment in PUV, and urinary diversion improves the outcome. VCUG is still the gold-standard imaging modality for documenting PUVs. The factors like renal dysplasia and UTI have their role in final outcome

Survey on childhood solid malignant tumors in cases admitted to Mofid pediatric hospital from 1996-2010: a single-center study

As children comprise a considerable proportion of our population, the importance of local epidemiologic research and geographic and racial differences can't be disputed on childhood malignancies. In this descriptive retrospective study, we extensively reviewed the medical records of patients younger than 15 years of age, diagnosed with solid malignant tumors, from 1996 to 2010, using the last version of International Classification of Childhood Cancers. In our study the order of incidence of solid malignancies was relatively similar to the other national studies, with lymphomas and Central Nervous System [CNS] tumors as the most common, followed by Sympathetic Nervous System [SNS] tumors, soft tissue sarcomas and renal tumors. The peak age of diagnosis was between 1 and 4 years old. In our study, the overall male to female ratio was 1.38, with a trend towards male dominance in the older age groups. We also observed a disturbing trend of childhood solid malignancies. The total number of cases almost doubled from 2009[54[6.9%]] to 2010[96[12.2%]] .This trend was particularly detected in CNS and SNS tumors. Further analysis showed that malignant CNS tumors had played a more pronounced role in this change. Changes in trends of some tumor categories have illustrated a desperate need to further research in regional and national levels. Also the gathered data can be used to make more accurate programs for a better control of cancer and to help policymakers to allocate more evidence-based resource for hospitals

Clinical evaluation of disc battery ingestion in children

The purpose of this study was to evaluate the characteristics, management, and outcomes of disc battery ingestion in children. We reviewed the medical records of children admitted to Mofid Children's Hospital due to disc battery ingestion from January 2006 to January 2010. Clear history, clinical symptoms and results of imaging studies revealed diagnosis of disc battery ingestion in suspected patients. The clinical data reviewed included age, gender, clinical manifestation, radiologic findings, location of disc battery, duration of ingestion, endoscopic results and surgical treatment. We found 22 cases [11 males and 11 females] of disc battery ingestion with a mean age of 4.3 years [range: 9 months to 12 years]. Common symptoms were vomiting, cough, dysphagia, and dyspnea. The mean duration of ingestion was 2.7 days [4 hours to 1.5 months]. A total of 19 patients had histories of disc battery ingestion, but three cases referred with the above symptoms, and the batteries were accidentally found by x-ray. Only three cases had batteries impacted in the esophagus. Twelve batteries were removed endoscopically, 6 batteries spontaneously passed through the gastrointestinal [GI] tract within 5 to 7 days, and 4 patients underwent surgery due to complications: 3 due to tracheo-esophageal fistula [TEF] and 1 due to intestinal perforation. There was no mortality in our study. Most cases of disc battery ingestion run uneventful courses, but some may be complicated. If the battery lodges in the esophagus, emergency endoscopic management is necessary. However, once in the stomach, it will usually pass through the GI tract

Congenital rhabdomyosarcoma of shoulder

A 16-day-old female was referred with congenital swelling on her right shoulder. On examination, there was a hard, round, ecchymotic, nontender, slightly movable, warm and shiny 10x15 cm mass on the right axillary pits which was extended to the right side of neck and chest wall. The mass separated the shoulder from the chest wall causing paralysis of right hand. Chest X-ray, ultrasound and MRI with contrast demonstrated a soft tissue mass suspected to be a hemangioma. The mass rapidly increased in size despite aggressive steroid therapy with rupture and bleeding. On the 45th post natal day the baby was taken to operating room to control the bleeding and if possible total excision of the mass. The mass was separated easily from the surrounding tissue and was excised along with right upper extremity. At the end of surgery the baby had cardiac arrest, and apparently died of Disseminated Intravascular Coagulation [DIC]. The final pathology report was Rhabdomyosarcoma [RMS]

Immunohistochemical detection of p53 protein expression as a prognostic factor in wilms tumor

Histological typing, especially the evidence of anaplasia and stage of the tumor are two major prognostic indicators in Wilms tumor, but some genetic factors have recently been noted. Mutations in TP53, which is a tumor suppressor gene, have been demonstrated to be associated with poor prognosis in some malignancies. There are also few studies which have confirmed the correlation between p53 protein overexpression and advanced course in Wilms tumor. This study was conducted to determine the correlation p53 immunoexpression and prognosis and outcome of Wilms tumor. The overexpression of p53 in 44 specimens of children [26 boys and 18 girls] with Wilms tumor [median age, 36 months; range, 4 to 96 months] was assessed in Mofid Children's Hospital, Tehran, Iran. The overexpression of p53 was determined by immunohistochemistry with antihuman p53 antibody. A positive immunostaining for p53 was detected in 24 of the 44 cases [54.7%]. The grade of the tumor and anaplasia were associated with p53 positivity, but there was no association of p53 with the tumor stage. In comparison to p53 negatives, week-moderate and high p53-expressing tumors had significantly decreased the overall survival [hazard ratio, 3.75 and 8.61; P=.05 and P=.01, respectively]. Overexpression of p53 protein in Wilms tumor is an indicator of poor pro gnosis, because it is correlated with unfavorable histology tumors and a shorter survival period

Can we rely on frozen sections of a rectal biopsy for one-stage trans-anal pull-through operation in Hirschsprung's disease?

Successful results after one-stage trans-anal pull-through [OSTAPT] operation for Hirschsprung's disease [HD] depend on accurate identification of the aganglionic segment in intra-operative frozen section [FS]. Misinterpretation of the findings of the rectal biopsy is an anxiety-evoking pitfall for the surgeon. This study aims to describe our experiences in comparing results of FS and permanent Section [PS] rectal biopsies in children with HD who were candidates for OSTAPT in a single-step operation. Subjects under the age of 14 years, admitted from March 2000 to July 2008 in a university-affiliated children's hospital for open rectal biopsy to diagnose HD were included in the study. All biopsies were taken 2-3 cm above the dentate line. 210 specimens of full-thickness rectal biopsy were obtained for both frozen section and permanent biopsy from all patients, examined by two well experienced pediatric pathologists for ascertaining the presence of ganglion cells, and the results were compared. Analysis was performed by SPSS Software version 11.5. Two-hundred one infants and children underwent FS rectal biopsy to exclude HD. Positive results were seen in 63.8% of the specimens examined as PS and in 58.3% of FS samples. 93.9% of positive results in FS studies were confirmed by PS studies. 6.1% of FS reports were false positive and 21.7% were false negative [P<0.001]. The sensitivity of FS was 85.8% and specificity 90.2%. Positive predictive value [PPV] was 93.9% and negative predictive value [NPV] was 78.3% in FS studies [P<0.001]. The accuracy of FS was 80.4%. Although FS of the rectal biopsy is useful in defining the aganglionic segment during operation, according to this study, it cannot be used as the sole base for performing primary pull-through operation before the results of the permanent section are on hand

[Diagnostic role of ESR, CRP, leukocytosis and Neutrophil/ Lymphocyte in peripheral blood smear in children under 14 with acute appendicitis]

Clinical assessment outweighs the use of paraclinical investigations in the diagnosis of acute appendicitis. Few studies have addressed the predictive value of white blood cells [WBCs] and C-reactive protein [CRP] at different cut-off values in appendicitis. Our purpose was to determine the predictive value of WBC count, CRP, ESR and neutrophil to lymphocyte ratio in pediatric appendicitis. WBC count, CRP, ESR and neutrophil to lymphocyte ratio were measured prospectively in 307 patients presenting with lower abdominal pain who underwent surgical exploration; the results were correlated with each patient's outcome. Gold standard for diagnosing appendicitis was based on histopathologic evaluation. Patients [189 boys, 118 girls] were 1-14 years old [mean 7.9 +/- 2.9 years]. Overall WBC count had the highest sensitivity in the prediction of diagnosis of appendicitis [86.8%], whereas sensitivity of CRP was 76%. ESR and neutrophil to lymphocyte ratio revealed a modest sensitivity. Combining the diagnostic tests increased the sensitivity significantly. Sensitivity increased to 96.1% when CRP and WBC count were used together while it was 99.1% when the combination of all diagnostic tests were used. This result may have important clinical and economic implications. We suggest that patients experiencing lower abdominal pain, with normal WBC count and CRP values, are unlikely to have acute appendicitis and can be safely observed for a longer time

Liver hydatid cyst in children [a 14-year review]

Hydatid disease is still an important health hazard in the world. This disease is a parasitic infestation which is endemic in many sheep and cattle raising areas such as in Iran. The aim of this study was to evaluate the clinical appearance, diagnosis, and treatment of liver hydatid cyst in children. This retrospective study evaluated 100 patients who were referred to Mofid Children's Hospital with liver hydatid cyst from March 1996 to March 2010. Medical records of 1 to 14 year old patients who had definitive liver hydatid cyst were included and analysis of variables such as age, gender, symptoms, diagnostic investigation, operative technique, hospital stay, mortality, morbidity and outcome of treatment were evaluated. The patients consisted of 54 boys [54%] and 46 [46%] girls with an age range of 1-14 years [mean 11.8 +/- 4.6]. The incidence rate increased by age. The patients had totally 110 cysts, right pulmonary lobe 81 [73%] cysts and left side had 29 [27%]. Abdominal mass was the most common [50%] symptom. Abdominal sonography gave correct diagnosis in 94 [94%] patients. Conservative surgical treatment was carried out in 98 children. Two patients were treated medically as the cysts were small and calcified. The most common complication was wound infection in 3 cases. Mean length of hospitalization was 9 days. In 100% of our patients the type of parasite was Echinoccocus granulosus. The morbidity rate was 12% [prolonging external catheter drainage in 12 patients]. There was only one [1%] mortality and 2 [2%] recurrences. Due to the less invasive and high accuracy of liver sonography in diagnosis of hydatid cyst, we recommend it as the method of choice for the diagnosis in endemic regions. Surgery is the method of choice for treatment

[Comparing the therapeutic effects of spirinolactone plus cyproterone compound with metformin's on polycystic ovarian syndrome]

Polycystic ovarian disease is one of the most common causes of hirsutism, irregular menstruation, obesity, anovulation or infertility in women. More than 50% of these women become obese and 1/3 of them diabetic at a time throughout the life. Metformin is useful to improve the insulin resistance, hirsutism and oligomenorrhea of PCOS patients. Administrating spirinolactone as an androgen antagonist in conjunction with a contraceptive pill such as Cyproterone compound [Dian] may also be effective to treat the sings and complaints of the patients. To compare the efficacy of spirinolactone with cyproterone compound vs. metformin on PCOS. This study was performed on 113 women, 20 to 30 years old, diagnosed to have PCOS, visited in Imam Hosein and Loghman outpatient clinics during three years. They came with complaints such as obesity hirsutism oligomenorrhea or amenorrhea Metformin is effective in improving obesity, hirsutism and oligomenorrhea of obese PCOS patient [regardless of their insulin resistance] [P< 0.005]. Metormin is more effective to reduce the body weight in obese women than those two [P< 0.05], on the other hand it has a limited effect on the hirsutism and oligomenorrhea of non-obese PCOS patients. Spirinolactone in conjunction with Dian is effective in improving the hirsutism, obesity and oligomenorrhea of the obese [regardless of their insulin resistance] [p< 0. 05] and non-obese patients [p< 0.005]. Metformin is more effective than Spirinolactone together with Dian on weight reduction in obese PCOS [p< 0.005], and Spirinolactone together with Dian is more effective on hirsutism and oligomenorrhea of non-obese patients than Metformin alone [p< 0.05]. Metoformin is effective to treat the obesity, hirsutism, and oligomenorrhea of the obese women and the combination of spirinolactone and cyproterone compound is more effective to treat hirsutism and oligomenorrhea in non-obese women with PCOS

efficacy and safety of oxcarbazepine as add-on therapy in intractable epilepsy in children

1-3% of the population suffer from epilepsy. Up to 30% of them develop refractory epilepsy and their seizures occur more than once per month despite receiving at least 2 first line antiepileptic drugs. In this group, more efficacious antiepileptics are needed. This study was undertaken to evaluate the efficacy and safety of Oxcarbazepine as an adjunction therapy in children with refractory epilepsy. From Feb 2004 until Sep 2006, 30 patients with refractory epilepsy aged between 4 and 14 years were evaluated in a before and after type study. The patients had seizure ranging from once monthly to more than 10 times daily and none of them had used Oxcarbazepine previously. They received Oxcarbazepine 30 to 50 mg/kg/day orally in combination with their current antiepileptic drugs and were regularly assessed for seizure frequency and side effects for 10 months. With Oxcarbazepine adjunction therapy, 10% of the patients became seizure-free, 36.6% experienced more than 50% reduction in seizure frequency, and 13.3% had increasing seizures. The drug was especially effective in the patients with partial seizures [77.7%]. Brief and transient adverse effects were seen in 36.6% of the patients which disappeared with treatment continuation. Wilcoxon signed ranks test showed that oxcarbazepine was effective in the treatment of refractory seizures [P=0.003] and as shown by Fisher's exact test, it was more effective in partial seizures [P=0.0043]. The results showed that Oxcarbazepine was a useful medication in the treatment of refractory epilepsy, especially the partial type, in children

Early exploration in the management of acute scortum in children

Acute scrotal conditions are a common clinical setting that present with pain and swelling of the hemiscrotum. The aim of our study has been to evaluate the findings in boys operated on acute scrotum. A descriptive study was conducted on 100 patients with acute scrotum admitted to Mofid Children's Hospital from March 1993 to March 2007. Data included history, age, primary symptoms, definite diagnosis, side involvement, paraclinical tests, imaging modalities, medical or surgical management and type of the surgery. Diagnosis was made mainly by clinical signs and symptoms and surgical exploration. Torsion of testis [n=31] was the most common cause of acute scrotum followed by incarcerated inguinal hernia [n=30], torsion of testicular appendage [n=27], epididymo-orchitis [n=7], idiopathic scrotal edema [n=4] and hematocele [n=1]. Most [34%] of the patients were in the first year of life and the mean age was 5.4 years. The commonest signs were pain and swelling [62%] followed by pain, swelling and redness [21%] and pain alone [16%]. 83 patients consisting of 31 with torsion of testis, 14 with torsion of testicular appendage, 30 with incarcerated hernia and 7 with epididymo-orchitis underwent surgical exploration after careful physical examination. 10 of 31 patients with torsion of testis had orchiectomy and orchiopexy of contrea-lateral testis and the rest had detorsion and bilateral orchiopexy. 80% of patients were referred to the hospital after 12 hours of clinical onset of symptoms. Early exploration of scrotum based on careful physical examination excludes the risk of misdiagnosis by diagnostic procedures and unnecessary delay by diagnostic techniques. Exploration of scrotum is a relatively safe and simple procedure with good cosmetic results, it also allows an accurate diagnosis to be made

[ study of the hyperuricemia in obese children and correlation between hyperuricemia and factors related to the obesity]

Recently obesity in pediatric population is rising fast and its early onset complications [like those seen in adults] are keeping pace with it. It seems that a high level of urinary uric acid [UUA] could be the result of reproduction of uric acid in the body. On the other hand, it was shown to be the result of decreased urinary clearance of uric acid in some obese adults. Target of study is the mechanism of hyperuricemia in obese children and also the correlation between hyperuricemia and factors related to the obesity. We studied 75 severely obese children [42 boys and 33 girls] and compared them with 30 non-obese children [20 boys and 10 girls]. Serum leptin, lipid profile, liver tranaminases, uric acid and creatinine and also 24 hours urinary uric acid and creatinine were measured, and uric acid clearance was calculated in each case. Serum uric acid level [U.A] in obese children were significantly higher than those in control children, but urinary uric acid [UUA], uric acid clearance [CUA] and fractional excretion of uric acid [FEUA = CUA/CCR * 100] were lower in the obese children than those in controls. The low UUA in the obese children suggests that their hyperuricemia was not the result of over intake of food containing uric acid. There was a close correlation between uric acid and age/body weight and it becomes closer as they aged and gained weight. These results suggest that hyperuricemia in obese children is mainly attributable to impaired renal clearance of uric acid and not to overproduction in the body and it will higher age and body weight

Penile agenesis: report on 8 cases and review of literature

Penile agenesis [PA] is an extremely rare anomaly with profound urological and psychological consequences. The opening of the urethra could be either over the pubis or at any point on perineum or most frequently in anterior wall of the rectum. The aim of treatment is an early female gender assignment and feminizing reconstruction of the perineum. We report 8 cases of penile agenesis with urination and defecation through the rectum, apparently normal scrotum, bilateral descended testis, normally located anus, urethral opening in anus, 46xy karyotype and associated anomalies. In 2 cases parents refused any surgical interventions, but in 6 cases we did perform different operations [transforming five cases to females and one case to male gender]. We recommend feminizing operations in newborns or infants, but in older patients, regarding the child's psychology, it is advised to perform masculinizing operations, and finally, no surgical intervention should be undertaken before counseling the parents