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ABSTRACT: Continuous urinary leakage, despite normal deliberate voiding, must suggest the diagnosis of ectopic ureter, more specifically in girls. Ectopic ureter is usually associated with duplex kidney and complete ureteral duplication. The strategy of investigations has changed over the past few years, due to MRI development in the analysis of urinary tract malformations. We report the case of a 4-year-old girl who presented with these symptoms and had a suspicion of left duplex kidney on the prenatal ultrasonography (US). Two US examinations during the first months of life were compatible with a left duplex kidney without any complication. Another US at the age of 4 years was reported as normal. We completed the investigation with MR urography, which revealed a left duplex kidney with a poorly functioning dysplastic upper pole, and the orifice of the ureter of this upper pole inserting in the vagina. The surgical treatment, realized by celioscopy, was partial nephrectomy of the upper pole, removing most of the ectopic ureter. US is the first exam to investigate urinary tract malformations. However, duplex kidney with small dysplastic pole and ectopic insertion of a nondilated ureter may be difficult to see, and a normal US should never end the investigations. Intravenous urography and renal scintigraphy used to be the reference complementary exams, but are now replaced by MR urography. Without using ionizing radiation, MR urography can visualize duplex kidney and ectopic ureteral insertion with high resolution, and evaluates renal function of each kidney and each pole. These morphological and functional data are essential to determine the surgical treatment.
Archives de Pédiatrie 04/2013; · 0.30 Impact Factor
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ABSTRACT: Purpose:Spina bifida (SB) is the most common congenital cause of incontinence in childhood. This study attempts to determine the relationships between urinary/faecal incontinence, methods of management, and Health Related Quality of Life (HRQoL) in people with SB.Patients and method:A total of 460 patients (300 adults and 160 adolescents) from six centres in France have taken part in this cross-sectional study. Clinical outcome measures included walking ability, urinary/faecal continence, and medical management. HRQoL was assessed using the SF36 in adults and the VSP in adolescents and their parents. Univariate and multivariate analysis was used to determine the relationships between clinical parameters and HRQoL.Results:HRQoL were significantly lower than in the general population. Adult women had significantly lower scores than men, and adolescent females had significantly lower scores for psychological well being. We did not found strong relationship between incontinence and HRQoL in this population. Moreover patients surgically managed for urinary/fecal incontinence did not show significantly higher scores of HRQoL.Conclusion:Using generic HRQoL measures, urinary/faecal incontinence and their medical management may not play a determinant role in HRQoL of persons with SB. However many other factors affect HRQoL in these patients. A longitudinal study design is recommended to assess whether incontinence management is associated with improve HRQoL.
Quality of Life Research 04/2012; 15(9):1481-1492. · 2.30 Impact Factor
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N Kalfa,
F Cassorla,
F Audran,
I Oulad Abdennabi,
P Philibert,
C Béroud, J M Guys,
R Reynaud,
P Alessandrini,
K Wagner,
J Bréaud,
J S Valla,
G Morisson Lacombe,
J P Daures,
L Baskin,
M Fukami,
T Ogata,
C Sultan
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ABSTRACT: Mastermind-like domain containing 1 (MAMLD1) is a causative gene for the fetal development of male external genitalia. Almost 10% of patients with both severe and non-severe hypospadias exhibit mutations of MAMLD1. The aim of this work was to determine whether polymorphisms of MAMLD1 are a genetic risk factor for hypospadias.
This study included 150 hypospadias with a range of severities and 150 controls. Direct sequencing of the MAMLD1 coding exons and their flanking splice sites was performed. In silico secondary and tertiary structure prediction and accessibility of changed amino acids were evaluated using JPred, Netsurf and PHYRE software. Functional studies of the transactivation of haplotypes on Hes3 promoter were performed in vitro using cDNAs of missense variants of MAMLD1.
The p.P286S polymorphism was identified in 17/150 patients and 12/150 controls (11.3% vs. 8.0%, p = 0.32). The p.N589S polymorphism was identified in 22/150 patients and 12/150 controls (14.6% vs. 8.0%, p = 0.068). The double polymorphism (S-S haplotype) was present in 16/150 patients and 6/150 controls (10.6% vs. 4.0%, p = 0.044, OR = 2.87, CI from 1.09 to 7.55). The association of polymorphisms consistently revealed a modification in the structure prediction or amino acid accessibility in all three in silico models. The P286S, N589S and P286S + N589S proteins did not exhibit reduced transactivating activity on Hes3 promoter.
Polymorphisms of MAMLD1 gene are frequent in patients with hypospadias. Although no change in transactivation was noted on Hes3 promoter, the in silico studies and the significantly increased incidence of the S-S haplotype in hypospadiac patients raise the hypothesis of a particular susceptibility conferred by these variants.
Journal of pediatric urology 12/2011; 7(6):585-91. · 1.38 Impact Factor
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ABSTRACT: Solid pseudopapillary tumor (Frantz's tumor) of the pancreas is a rare lesion. It is of low-grade malignancy but can cause extensive local invasion. The aim of this study was to assess the outcome of Frantz's tumors after incomplete resection.
We contacted all authors who published case reports describing incomplete resection of Frantz's tumor between 1985 and 2008 to request follow-up information.
Follow-up information was obtained for 11 out 18 patients who underwent incomplete resection. Estimated median survival rate was 5.7 years (69.5 months).
Since Frantz's tumor typically develops mainly in children and young women, a 5.7 year survival rate is unacceptable. Thus complete resection of locally invasive solid-pseudopapillary tumor of the pancreas is always justified, even at the price of difficult, mutilating surgery.
Surgical Oncology 06/2011; 20(2):121-5. · 2.44 Impact Factor
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ABSTRACT: Intralobar pulmonary sequestration (ILPS) and bronchogenic cyst are rare congenital diseases. We present the first case of the association between an ILPS located in the upper lobe and a bronchogenic cyst. This association has been discovered antenatally in a girl. The cystic lesion has been shown by a fetal MRI and confirmed by a CT scan at 3 weeks of life. She underwent a left upper lobectomy by thoracoscopy at the age of 5 months. Postoperative course was uneventfull. This case confirms the congenital origin of pulmonary sequestration and shows the interest of an early surgery. Pediatr. Pulmonol. 2011; 46:509–511. © 2010 Wiley-Liss, Inc.
Pediatric Pulmonology 04/2011; 46(5):509 - 511. · 2.53 Impact Factor
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ABSTRACT: Diagnosis of neurogenic bladder is straightforward in children with myelomeningocele. However, recognition is more difficult in patients with occult dysraphism or central nervous system disorders since clinico-anatomical correlations are poor. Careful clinical examination and urodynamic exploration are mandatory for diagnosis and follow-up. Even if urinary leak is the first symptom, the main goal of the pediatric surgeon must be to preserve the upper urinary tract. The ideal protection strategy consists of ensuring that micturition is voluntary and complete and that the bladder capacity is sufficient with adequate compliance and sphincter outlet resistances. Balancing these functions requires a combination of medical and surgical treatment. A variety of techniques can be used depending on gender and age of the patient and social environment. In most cases, intermittent bladder catheterization is necessary to obtain complete evacuation of the bladder. Bladder capacity can be increased by anticholinergic drugs, injection of botulinum toxin into the bladder, and augmentation cystoplasty. Augmentation of bladder outlet resistances requires endoscopic injection of bulking agents, surgical bladder neck reconstruction and urethral lengthening, bladder neck suspension, and artificial urinary sphincter. In difficult cases, continent cystostomy with closure of the bladder neck can achieve definitive continence. At the beginning endoscopic treatment combining anti reflux procedure, injection of the bladder neck and botulinum toxin can be considered as a "total endoscopic management" and should be our first line. Other techniques are under evaluation. Sacral neuro-modulation has given promising results. Artificial tissue engineering will probably be used in the next future. Management of neurogenic bladder is not limited to urological considerations. Orthopedic, digestive, and sexual problems must also be taken into account in order to obtain an "acceptable quality of life".
Scandinavian journal of surgery: SJS: official organ for the Finnish Surgical Society and the Scandinavian Surgical Society 01/2011; 100(4):256-63. · 1.03 Impact Factor
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ABSTRACT: Intralobar pulmonary sequestration (ILPS) and bronchogenic cyst are rare congenital diseases. We present the first case of the association between an ILPS located in the upper lobe and a bronchogenic cyst. This association has been discovered antenatally in a girl. The cystic lesion has been shown by a fetal MRI and confirmed by a CT scan at 3 weeks of life. She underwent a left upper lobectomy by thoracoscopy at the age of 5 months. Postoperative course was uneventfull. This case confirms the congenital origin of pulmonary sequestration and shows the interest of an early surgery. Pediatr. Pulmonol. © 2010 Wiley-Liss, Inc.
Pediatric Pulmonology 12/2010; · 2.53 Impact Factor
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ABSTRACT: We report a case of laparoscopic nephrectomy of a cross-fused ectopic kidney in a 4-year-old girl with renal hypertension and Fanconi anemia.
We performed a transperitoneal laparoscopy. Ectopic kidney resection was done after dissection of the pathological kidney and after clamping vessels, using an ultrasonic device. Hospitalization time was 4 days.
At 6 months, blood pressure was normalized and the patient showed an adequate growth curve.
The transperitoneal route is very effective when a nephrectomy is necessary. It offers perfect exposure with limited risk of complications.
Journal of pediatric urology 10/2010; 6(5):522-4. · 1.38 Impact Factor
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ABSTRACT: We report the case of a 5-year-old girl with persistent chest X-ray abnormalities following an episode of pneumonia who has a complex congenital pulmonary malformation comprising of a congenital pulmonary airway malformation, an intralobar sequestration and two bronchogenic cysts, all present within the same lobe. The observation suggests a common embryological origin of these malformations.
Pediatric Pulmonology 08/2010; 45(8):832-5. · 2.53 Impact Factor
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M Haddad,
R Besson,
D Aubert,
P Ravasse,
J Lemelle,
A El Ghoneimi,
J Moscovici,
F Hameury,
K Baumstarck-Barrau,
G Hery, J M Guys
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ABSTRACT: The clinical benefit of sacral neuromodulation is unclear due to the paucity of randomized trial data. The purpose of this study was to evaluate sacral neuromodulation for management of urinary and fecal incontinence in a pediatric population.
This multicenter, open label, randomized, crossover study included children older than 5 years. After trial stimulation of the S3 root a neuromodulator (InterStim) was implanted on the S3 foramen. Clinical examinations, voiding and bowel diaries, and urodynamic and manometric evaluations were performed at the beginning (t1) and end (t2) of the first period, and at the beginning (t3) and end (t4) of the second period.
A total of 33 patients (24 boys) with a mean +/- SD age of 12.22 +/- 5.09 years were randomized. Etiologies were mainly of neurological origin. Incontinence was mixed urinary and fecal in 19 cases, urinary only in 9 and fecal only in 5. Cystometric bladder capacity increased during sacral neuromodulation (delta +24.27 ml vs -37.45 ml, p = 0.01). There was no significant change in other urodynamic or manometric parameters. Overall positive response rate was more than 75% for urinary (81%) and bowel (78%) function. Crossover analysis indicated that sacral neuromodulation is more effective than conservative treatment for both types of incontinence (p = 0.001).
In a pediatric population sacral neuromodulation is effective for bladder and bowel dysfunction and should be considered before irreversible surgery.
The Journal of urology 08/2010; 184(2):696-701. · 4.02 Impact Factor
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ABSTRACT: Lymphangiomas are rare benign lesions of the lymphatic system. The most common symptoms are abdominal tumor or "acute abdomen" in children. The treatment of choice is complete surgical resection, but the recurrence rate with incomplete resection is high, and laparotomy exposes the patient to adhesions. The authors report their experience with the lymphangioma laparoscopic approach.
This retrospective study examined 15 consecutive operations for lymphangiomas in children, ages 5 months to 14 years, treated during the 5-year period from 1999 to 2004.
Six patients were treated using the primary laparotomy approach, and nine patients underwent the laparoscopic procedure, six successfully. Three conversions were necessary (1 case requiring partial colectomy, 1 retroperitoneal case with adherence on the aorta and vena cava, 1 case with partial volvulus). Morbidity included two cases of acute occlusion caused by adhesions after laparotomy. There was no recurrence of lymphangioma during a mean follow-up period of 35 months.
The laparoscopy procedure could be used successfully for abdominal lymphangioma, even in an emergency. When the laparoscopic resection is impossible, laparotomy or sclerotherapy can be discussed.
Surgical Endoscopy 08/2007; 21(7):1153-7. · 4.01 Impact Factor
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ABSTRACT: Spina bifida (SB) is the most common congenital cause of incontinence in childhood. This study attempts to determine the relationships between urinary/faecal incontinence, methods of management, and Health Related Quality of Life (HRQoL) in people with SB.
A total of 460 patients (300 adults and 160 adolescents) from six centres in France have taken part in this cross-sectional study. Clinical outcome measures included walking ability, urinary/faecal continence, and medical management. HRQoL was assessed using the SF36 in adults and the VSP in adolescents and their parents. Univariate and multivariate analysis was used to determine the relationships between clinical parameters and HRQoL.
HRQoL were significantly lower than in the general population. Adult women had significantly lower scores than men, and adolescent females had significantly lower scores for psychological well being. We did not found strong relationship between incontinence and HRQoL in this population. Moreover patients surgically managed for urinary/fecal incontinence did not show significantly higher scores of HRQoL.
Using generic HRQoL measures, urinary/faecal incontinence and their medical management may not play a determinant role in HRQoL of persons with SB. However many other factors affect HRQoL in these patients. A longitudinal study design is recommended to assess whether incontinence management is associated with improved HRQoL.
Quality of Life Research 12/2006; 15(9):1481-92. · 2.30 Impact Factor
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Archives de Pédiatrie 07/2006; 13(6):816-9. · 0.30 Impact Factor
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ABSTRACT: The aim of this study was to analyse different clinical aspects and embryologic hypotheses of duodenal duplications.
Duodenal duplications occurring since 1995 were recorded. The age of the children at the time of diagnosis, the sex, location of the duplication, type of mucosa, clinical signs, associated lesions, and the type of surgical intervention were defined.
We identified 5 patients (3 girls and 2 boys) who presented with histological or intraoperative findings of duodenal duplication. Their ages ranged from 4 days to 9 years, with the exception of two prenatal diagnoses. Three children were symptomatic: high intestinal obstruction (1 case), digestive bleeding (2 cases). In 1 case we found a palpable abdominal mass and 1 case was completely asymptomatic (prenatal detection). The abnormality was located on the duodenal concavity, originating from the third part in 2 cases and from the second part in 3 cases. All cases were non communicating types, 4 of which were cystic duplications and 1 was a tube-like variety. The epithelial lining was duodenal mucosa in all patients, but gastric heterotopies were identified in 2 cases. We performed two complete resections and 3 intraduodenal derivations. The outcome was uneventful in 5 cases with an average follow-up of 2 years.
Duodenal duplications are rare malformations with several anatomical varieties. The preferred treatment for duodenal duplications is complete removal when the location allows it without endangering nearby anatomical structures.
European Journal of Pediatric Surgery 03/2006; 16(1):18-23. · 0.81 Impact Factor
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ABSTRACT: The diagnosis of neurogenic bladder can be easy in myelomeningocele and much more difficult in occult dysraphia or medical etiologies. Careful clinical examinations and urodynamic investigations are mandatory for the diagnosis and the follow up of affected patients. Clinico-anatomical correlations are poor. If urinary leak is the first apparent symptom, preservation of the upper urinary tract is the main goal of the surgeon. If natural history of the neurogenic bladder is destruction of the detrusor and paralysis of the trigona, obstructive uropathy is the main physiological concern. Urinary leak must be integrated in the global context of the bladder function in order to determine urinary incontinence type. Ideal micturition is voluntary, must be complete, and needs the synergistic action of a reservoir with a good capacity, a normal compliance, and adequate sphincter outlet resistances. Continence is obtained by balancing these functions, and associating medical treatment and surgery is necessary. Bladder intermittent catheterization is the clue to obtain in most of the cases complete evacuation of the bladder and protection of the upper urinary tract. Increasing bladder capacity is achieved more often by augmentation cystoplasty (colon, ileus, stomach and ureter can be used). Autoplasty at the beginning, artificial tissue engineering will be the future. Augmentation of the bladder outlet resistances need surgical reconstruction (young dees, Pipi-salles procedures...) or uretral and bladder neck suspensions, artificial urinary sphincters, endoscopic injections of bulking agents. All these techniques can be proposed and combined according to the patient's gender, age and social environment. Continent cystostomy allows obtaining continence in difficult cases and after unsuccessful surgery of the bladder neck. Other techniques are under evaluation and sacral neuromodulation give at the moment some promising results. Managing neurogenic bladder must not be considered only in urological terms: orthopedic troubles, digestive and sexual disorders must not be forgotten in order to obtain at least an "acceptable social life".
Annales d Urologie 03/2006; 40(1):15-27. · 0.36 Impact Factor
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ABSTRACT: Patients with spinal dysraphism may have severe constipation and faecal incontinence. The impact of antegrade colonic enema (ACE) in the management of patients with spina bifida (SB) is analysed. In a multicentre cross-sectional study, constipation, faecal incontinence and faecal management were described. Cases surgically treated were identified. Data were collected from 423 patients, of whom 230 did not use any manoeuvre or laxatives to assist evacuation. Conventional treatment was used in 193 patients, including digital extraction in 39%, retrograde enema in 21% and oral laxatives in 52%. For intractable constipation and overflow of faecal incontinence, 47 patients were treated with ACE, of whom 41 used the method at a mean time of interview of 4.1 +/- 1.9 years after ACE operation; six abandoned ACE for conventional management. With ACE, faecal continence was significantly improved compared with conventional management, and neither retrograde rectal enema nor digital extraction were required. The conduit was fashioned to the right colon in 32 cases and to the left colon in nine cases. This study provides information on a multicentre experience in bowel management in SB patients. Whatever the technique used, ACE has improved faecal status compared with conventional therapy.
Neurogastroenterology and Motility 03/2006; 18(2):123-8. · 3.41 Impact Factor
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ABSTRACT: We describe urinary continence management and outcome in patients with spina bifida to identify the procedures that are most successful.
In a multicenter retrospective cohort study medical charts were studied. At the same time in a cross-sectional survey sociodemographic characteristics, orthopedic features and urinary continence were described based on the frequency of leakage from the viewpoint of patients or close relatives using a Likert scale of 5 items, namely 1-leakage permanent to 5-leakage never.
A total of 421 patients were included, of whom 191 (45%) had been medically treated with a normal voiding pattern according to the patient viewpoint in 21%, clean intermittent catheterization in 61% and no specific bladder emptying method in 18%. The mean leakage score +/- SD was 2.74 +/- 1.55. On the other hand, 230 patients (55%) were surgically treated. Except for 23 patients who underwent noncontinent urinary diversion 207 were considered for treatment and continence description. The mean leakage score was 3.45 +/- 1.60. An artificial urinary sphincter in male and females, and a sling or Kropp technique in females were satisfactory when bladder enlargement was not required. In cases of bladder augmentation without continent diversion an artificial urinary sphincter in males and a bladder neck sling or cinch, Kropp and Young-Dees procedures in females have provided the best results. In cases of bladder enlargement with continent urinary diversion bladder neck closure or a wrap have provided the best results whatever the patient sex.
Many factors may influence the choice of a technique, such as patient sex, bladder characteristics or orthopedic conditions. However, since to our knowledge no randomized, controlled study has been yet performed, definitive conclusions on the best way to achieve urinary continence in patients with spina bifida cannot be established.
The Journal of Urology 02/2006; 175(1):208-12. · 3.75 Impact Factor
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ABSTRACT: Phimosis remains a major question for mothers and induces a high number of consultations. However, large epidemiologic series have shown that congenital phimosis may disappear spontaneously in around 80% of cases with development and should'nt need any treatment before the age of five or six years old. Theses elements go against sociocultural habits which induce many circumcisions before the age of six. Corticoid treatment of phimosis seems to be very efficient to facilitate the disparition of phimosis. The aim of this literature review is to evaluate medical, socioeconomical and therapeutics aspects of phimosis. Based on these data, we recommend never to treat phimosis before the age of one year old, to wait as long as possible for spontaneous evolution of phimosis until the age of five years old, and, in case of non evolution of congenital phimosis or pathologic phimosis to use as first step treatment corticoid topics rather than surgical treatment.
Archives de Pédiatrie 10/2005; 12(9):1424-32. · 0.30 Impact Factor
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ABSTRACT: Hemolymphangioma is a benign malformation of the lymphatic vessels. Cervical localisation is the most frequent. Mediastinal localisation is rare, but may be life-threatening because of airway compression. We report on a four-month-old boy who presented, in a context of epidemics, with clinical signs of acute bronchiolitis requiring mechanical ventilation for several days. Chest X-rays showed an important mediastinal mass with airways compression. Diagnosis was evoked on CT-scan aspects and confirmed by histology. Surgery allowed complete resolution, but dysphonia and oropharyngeal disorders persisted for several months. This rare congenital malformation is reviewed.
Archives de Pédiatrie 03/2005; 12(2):168-72. · 0.30 Impact Factor
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ABSTRACT: We report a prospective randomized controlled study to evaluate the possible benefits of sacral neuromodulation (SNM) for the management of neurogenic bladder dysfunction in children.
We included in the study subjects between the ages of 5 and 21 years presenting with urinary incontinence due to neurogenic bladder. Before study inclusion all previous treatment was discontinued. Patients were randomly divided into the control group treated conventionally and the implant group treated with SNM. Treatment outcome was compared every 3 months for a minimum of 12 months based on clinical examination, voiding diary and urodynamic evaluation.
A total of 26 boys and 16 girls with a mean age of 11.9 years were enrolled in this study. There were 21 patients in each group. The main underlying etiology was spina bifida. The 2 groups were comparable with regard to sex, age and urodynamic variables. Total disappearance of urinary leakage was observed in 1 patient who underwent implantation but he still required intermittent catheterization. Comparison of urodynamic variables disclosed no significant statistical difference except with regard to functional bladder capacity which was better in the control group and the leak point pressure which was better in the implant group (p <0.05). Evaluation of interindividual variations in the implant group revealed significant improvement in compliance and functional bladder capacity at 6 and 9 months but not at 12 months. Nine patients in the implant group reported improvement in intestinal transit, 5 total disappearance of urinary infection and 6 persistent sensation of a full bladder. No patient in the control group reported any improvement. Revision surgery was required in 3 cases due to lead migration, faulty connection and wound infection.
SNM is a promising new therapeutic modality. Implant placement is minimally invasive, nondestructive and reversible. Use in children with neurogenic bladder has not been previously reported. Although some improvement was noted in patients treated with SNM, the difference with the control group was not significant. A larger multicenter study is warranted to evaluate SNM.
The Journal of Urology 10/2004; 172(4 Pt 2):1673-6. · 3.75 Impact Factor
