[Total knee replacement in different age groups]. / Sravnenie lechebnogo effekta total'nogo endoprotezirovaniya kolennogo sustava v raznykh vozrastnykh gruppakh.

OBJECTIVE: To evaluate the efficacy and quality of life in long-term period (1 year) after total knee replacement in various age groups. MATERIAL AND METHODS: We studied 134 patients after unilateral primary total knee replacement. The KOOS and SF-36 questionnaires were used to assess the therapeutic effect (functionality and symptoms) and quality of life in patients with knee osteoarthritis. RESULTS: At baseline, group I (young patients) had low KOOS pain scores (39.42±16.42), function scores (50.18±19.16) and QoL scores (18.2±15.9) compared to other age groups. A year after surgery, group I (<55 years) had significantly lower KOOS scores of pain, function and quality of life compared to group III (>65 years). Multiple regression analysis showed that age was a significant predictor of pain, but not a function after a year. CONCLUSION: Total knee replacement gives a noticeable improvement in pain, functionality and quality of life in all age groups. However, there are significant age-related differences in preoperative assessment of pain, quality of life and mental health, as well as in final indicators of postoperative pain and quality of life. Indeed, young patients (<50 years) report more intense pain and worse quality of life. These data may be used in clinical practice to improve decision-making and patient expectations before total knee replacement.

RESULTS OF PARS PLANA VITRECTOMY FOR THE MANAGEMENT OF ENDOGENOUS FUNGAL ENDOPHTHALMITIS AFTER URINARY TRACT PROCEDURES.

PURPOSE: To report the results of pars plana vitrectomy with adjuvant intravitreal amphotericin B and systemic fluconazole in the management of endogenous endophthalmitis after the urinary tract procedures. METHODS: Retrospective study of 10 eyes of 7 patients diagnosed as endogenous fungal endophthalmitis. Pars planavitrectomy with adjuvant intravitreal amphotericin B and oral fluconazole was conducted once the general condition is suitable. The final anatomical and functional results were evaluated. RESULTS: Ten eyes of seven patients, five men and two women had pars plana vitrectomy. Control of infection was achieved in all cases. Visual acuity improved in 7 eyes (70%), remained the same in 2 eyes (20%), and worsened in 1 eye (10%). The retina was flat in all cases. No eye developed phthisis bulbi. CONCLUSION: In cases of fungal endophthalmitis, after urinary tract procedures, the prevention of phthisis bulbi can be achieved in all cases. Improvement of vision can be achieved in most of the cases. The final visual status depends on visual acuity at presentation, macular affection, and the presence of retinal detachment at presentation.

Aqueous misdirection following pars plana vitrectomy and silicone oil injection.

PURPOSE: To report a retrospective series of seven phakic eyes of seven patients suffering from a malignant glaucoma-like syndrome following pars plana vitrectomy and silicone oil (SO) injection. MATERIALS AND METHODS: Seven eyes with retinal detachment treated with pars plana vitrectomy with or without scleral buckling with SO tamponade. This was followed by cataract extraction to manage the elevated intraocular pressure (IOP). RESULTS: This was a retrospective review of seven cases that received pars plana vitrectomy and SO with or without scleral buckling for different causes of retinal detachment (three were rhegmatogenous and four were tractional). After a period ranging from 1 week to 1 month, they presented with malignant glaucoma-like manifestations; high IOP, shallow axial anterior chamber, and remarkable decrease of visual acuity. Atropine eye drops and anti-glaucoma medical treatment (topical and systemic) had been tried but failed to improve the condition. Dramatic decrease of IOP and deepening of the axial anterior chamber was observed in all cases in the first postoperative day after phacoemulsification and posterior chamber foldable intraocular lens implantation with posterior capsulotomy. CONCLUSION: Aqueous misdirection syndrome may be observed following pars plana vitrectomy and SO tamponade. This must be differentiated from other causes of post vitrectomy glaucoma. Cataract extraction with posterior capsulotomy controls the condition.

Primary versus secondary ureteroscopy for pediatric ureteral stones.

OBJECTIVE: To evaluate the outcome of primary versus secondary ureteroscopy for pediatric ureteral stones. PATIENTS AND METHODS: A retrospective chart review study that included 66 children aged less than 12 years, who were subdivided into two groups: Group A, which included 42 children who had undergone primary ureteroscopy without pre-stenting; and Group B, which included 24 children who had undergone ureteroscopy after ureteric stenting. Kidneys, ureters and bladder radiographs were done on the first postoperative day to assess the degree of stone clearance and stent position. RESULTS: Age, gender, stone location and stone size were not significantly different between both groups. In Group A, 31 (73.8%) children required ureteric dilation, 13 (31%) had a tight ureter that failed to respond to dilation, 25 (59.5%) displayed complete stone clearance, and of these, 13 (52%) needed postoperative stenting. One child experienced ureteric injury during stone disintegration and was stented for two weeks. Children in Group B experienced a 95.8% complete stone clearance rate, with no ureteric injury reported; postoperative stenting was performed in three (12.5%) children.. CONCLUSION: Secondary ureteroscopy is preferable over primary ureteroscopy in pediatric populations because of a significantly lower need for ureteric dilation, shorter procedure time and better stone clearance rate..

Percutaneous nephrolithotomy in children: A preliminary report.

OBJECTIVES: The recurrence of pediatric nephrolithiasis, the morbidity of repeated open surgical treatment as well as our experience in percutaneous nephrolithotomy (PNL) in adult patients, all derived us to shift to PNL for managing renal stones >1.5 cm in pediatric patients. Our aim of this study is to evaluate the safety and efficacy of PNL in pediatric patients. MATERIALS AND METHODS: During the period of the month between May 2011 and April 2013, 38 children (47 renal units) underwent PNL for renal stones 1.5-5 cm in length. Patient demographics, stone characteristics, and clinical outcome were prospectively studied. Data of those who underwent conventional and tubeless PNL were compared. Median follow-up period was 12 months (range: 6-24). RESULTS: The median age at presentation was 8-year (range: 3-12). The operative time ranged from 30 to 120 min (median 90). Overall stone clearance rate was 91.5% after single PNL. The median hospital stay was 3 days. Auxiliary procedures were successful for the remaining 4 patients (nephroscopic clearance in one and shockwave lithotripsy in 3). Tubeless PNL was performed in 17 renal units with a comparable outcome to conventional ones. The perioperative complications were noted in 5/47 (10.6%) of all procedures (Clavien Grade II in 4 and Clavien Grade IIIa in 1) and were managed conservatively. CONCLUSIONS: Percutaneous nephrolithotomy for renal stones in pediatric patients is safe and feasible if performed by a well-experienced endourologist. Tubeless PNL is a better choice for children.

Laparoscopic versus open orchiopexy in the management of peeping testis: a multi-institutional prospective randomized study.

OBJECTIVE: Peeping testis is an inconsistently palpable/seen undescended testis that migrates back and forth at the internal inguinal ring. Both open and laparoscopic orchiopexy are effective forms of management. The present study aimed to evaluate the efficacy and safety of both approaches. PATIENTS AND METHODS: Between September 2007 and January 2012, 46 peeping inguinal testes were randomly treated with either open (25 cases) or laparoscopic (21 cases) orchiopexy procedures. Spermatic vessels were preserved for all cases. Operative details, postoperative morbidity and final testicular site and size were recorded. RESULTS: The median age of the children was 2.5 years (range 0.5-12.0). The follow-up period ranged from 1.0 to 5.5 years. Of these testes, 20 in the open surgery group and 19 in the laparoscopic group maintained correct intrascrotal position (P = 0.428). Re-do orchiopexy was indicated for two cases in the surgical group (P = 0.493). No cases of testicular atrophy or hernia were encountered. CONCLUSION: Open and laparoscopic orchiopexy procedures for peeping testes are fairly comparable. However, laparoscopy is relatively more effective, as two re-do orchiopexies were required in the open surgical group.

Effect of 360° episcleral band as adjunctive to pars plana vitrectomy and silicone oil tamponade in the management of myopic macular hole retinal detachment.

PURPOSE: To report the effect of 360° scleral band in combination with pars plana vitrectomy (PPV) and silicone oil tamponade on the anatomical success and on the closure of macular hole (MH) in cases of myopic macular hole retinal detachment. METHODS: A retrospective consecutive interventional study from medical records on patients who had pars plana vitrectomy and silicone oil. with or without 360° scleral band for the treatment of retinal detachment associated with MH. The cases were operated in the period from February 2006 to May 2012. The included cases were classified into two groups: the first group with scleral band and the second group without scleral band. The primary anatomical success and optical coherence tomography patterns of MH closure were the main outcomes. RESULTS: After the first procedure, the overall success rate was 90.6% (in both groups). In 9.4%, there was recurrent retinal detachment. In the first group the success rate was 89.5%, and in 10.5% there was recurrent retinal detachment. In the second group 92.5% was success and 7.5% was recurrent retinal detachment. After the second interference, the success rate was 98.4% in both groups. Closure of MH was achieved in 45.2% in both groups. In the first group, there was closure of MH in 43.5%, while in 47.8% the hole remained open flat, in 4.3% the hole closed partially and in 4.3% there was macular scar. In the second group, MH closure was achieved in 47.4%, whereas in 52.6% the hole was open flat. CONCLUSION: The use of 360° band in combination with pars plana vitrectomy and silicone oil offered no additional effect on either the anatomical success or the rate of MH closure in the management of myopic macular hole retinal detachment. Four patterns of MH were reported closed MH, partial thickness MH, open flat MH, and macular scar.

Different techniques of transconjunctival cannulated vitrectomy versus conventional non-cannulated vitrectomy in various vitreoretinal disorders.

PURPOSE: To evaluate the safety and efficacy of different methods of transconjunctival cannulated vitrectomy versus conventional non-cannulated vitrectomy in various vitreoretinal disorders. METHODS: A prospective randomized study was done from August 2009 to February 2011. The study included 129 eyes of 122 patients, randomly divided into four groups. Group 1 comprised 34 eyes operated on using transconjunctival 20-gauge cannula Claes system. Group 2 comprised 32 eyes operated on using transconjunctival cannulated 23 gauge system. Group 3 comprised 27 eyes operated on using combined 20-gauge non-cannulated and 23-gauge transconjunctival cannulated system. Group 4 comprised 36 eyes operated on using conventional non-cannulated 20-gauge system. RESULTS: The four groups were demographically similar. Anatomical outcome was achieved in all cases. Vision was improved in 29 eyes (85.3%) in group 1, 23 eyes (71.9%) in group 2, 19 eyes (70.4%) in group 3, and 26 eyes (72.2%) in group 4. There was no statistical difference between the four groups 1-day postoperative (P=0.405) and 1-week postoperative intraocular pressure (P=0.254). The number of sutureless sclerotomies was 68 (66.6%) in group 1, 78 (81.3%) in group 2, 50 (61.8%) in group 3, and 0 in group 4. Hypotony occurred in one eye (2.9%) in group 1, three eyes (9.4%) in group 2, two eyes (7.4%) in group 3, and no eyes in group 4. Operative endophthalmitis did not occur in any one of the four groups. CONCLUSION: Final anatomical and functional outcomes were not related to the type of sclerotomy used (cannulated or non-cannulated), the gauge used (20 or 23), the route (transconjunctival or transscleral), or type of suture used. The advantages of small-gauge transconjunctival vitrectomy were patient comfort, early ambulation, and preservation of the conjunctiva. This should be weighed against the cost of this cannula system.

Long term result of silicone oil versus gas tamponade in the treatment of traumatic macular holes.

PURPOSE: To compare the effectiveness of pars plana vitrectomy (PPV) with either silicone oil or gas tamponade for the treatment of traumatic macular holes. METHODS: A retrospective comparative study included 22 patients who were operated on by PPV for repair of traumatic macular holes with either silicone oil tamponade (nine patients) or perfluoropropane (C(3)F(8)) gas tamponade (13 patients). RESULTS: Twenty-two cases were reviewed to assess the anatomical and visual outcomes of surgery with silicone oil tamponade in nine cases (40.9%) vs 14% C(3)F(8) gas tamponade in 13 cases (59.1%). The age of the silicone oil-treated patients ranged from 10 to 40 years (mean 27.4 ± 11.3 years), while that of the gas-treated patients ranged from 19 to 35 years (mean 26.54 ± 5.68 years). Female patients accounted for 33.3% of the silicone oil group and 30.77% of the gas-treated group. The minimal follow-up time for the silicone oil-treated group was 13 months, with a maximum of 18 months after silicone oil removal. The minimal follow-up time for the gas-treated group was 12 months and the maximum was 24 months. The rate of hole closure after the primary operation with oil tamponade was significantly lower than that with gas tamponade (66.67% vs 92.3%; P = 0.022). With re-operations, the final rate of hole closure was higher in the gas group (100%) than in the silicone oil group (77.8%). The final postoperative decimal visual acuity for the gas group was significantly better than for the oil group (0.433 vs 0.245; P = 0.047). CONCLUSIONS: C(3)F(8) gas was a more effective tamponade than silicone oil in achieving initial closure of traumatic macular holes. Eyes receiving an oil tamponade required significantly more re-operations to achieve hole closure than did eyes undergoing a gas tamponade. Final visual acuity was better for gas-treated eyes than for silicone oil-treated eyes.

New concept in urethral advancement for anterior hypospadias.

OBJECTIVE: We report on our experience with urethral mobilization and advancement as a treatment for anterior hypospadias. PATIENTS AND METHODS: From January 2004 to March 2007, 55 out of 160 children with anterior hypospadias were managed by urethral mobilization and advancement; 46 had a mean follow-up period of 25 months (range 6-38) and are the subjects of this report. Their ages ranged from 2.5 to 12 years with mean age 4.5 years. The dissection began proximally in the avascular plane above the tunica albuginea covering each corpus cavernosum medially until reaching beneath the corpus spongiosum up to the hypospadiac meatus. Tension-free urethral anastomosis was achieved. The ventral glans was incised deeply at the interballanitic groove. The two glans wings and ventral glanular mucosal flaps were mobilized laterally. Interrupted sutures were placed through the tunica albuginea of corpus spongiosum to the corpora cavernosa. The mobilized urethra was wrapped by dartos fascia. The urethral stent was removed 24h postoperatively. RESULTS: Three-fold urethral mobilization was sufficient to achieve tension-free urethral anastomosis. A slit-like orthotopic meatus, with conically shaped glans and straight penis, was achieved in all but one subcoronal case with mid-glans meatal retraction during our early experience. Postoperative urethral fistula was not recorded in any patient. Satisfactory urinary stream for parents and child was reported in 42/46. Peak flow rate was within normal range (upper 50% percentile) in all. CONCLUSION: Urethral mobilization should begin proximally. Three-fold penile urethral mobilization, deep interballanitic incision and wide dissection of the glans can provide a slit-like orthotopic meatus with conical glans and straight penis in cases of anterior hypospadias without hypoplastic distal urethra and persistent ventral curvature after penile skin degloving, regardless of the presence of unhealthy, narrow urethral plate, shallow glanular groove, and flat or small glans.

Continent cutaneous urinary diversion in children: experience with Charleston pouch I.

PURPOSE: Complete continent urinary diversion not incorporating the bladder is not commonly used in children. We evaluated the short and long-term outcome of a form of continent cutaneous urinary diversion (Charleston pouch I) in children. MATERIALS AND METHODS: A total of 17 children underwent Charleston pouch I continent cutaneous urinary diversion between 1988 and 2005. Patient records were reviewed for age, sex, indications for diversion, preoperative and postoperative laboratory and radiological studies, continence, patient and family acceptance, complications and long-term functional status. RESULTS: Patient age ranged from 6 to 16 years. The main indication for diversion was bladder exstrophy in 8 patients (47%), neurogenic bladder in 6 (35%) and cloacal abnormalities in 3 (18%). Mean followup was 87.5 months. One patient was lost to followup. With moderate fluid intake the other patients were dry with a mean catheterizing time of 3.4 hours (range 2 to 6). Catheterization intervals were adjusted for individual patients. Generally, the patients became damp or leaked if they did not catheterize at recommended intervals. Continence was achieved at variable postoperative intervals, with some patients attaining continence soon after and others at 3 to 12 months before pouch maturation. Patients irrigated the pouch a mean of 4 times weekly (range 0 to 14). Three patients (18%) had bladder stones. Ultrasound and/or other upper tract studies revealed no deterioration of the upper urinary system. No patient experienced clinical pyelonephritis or acidosis. Family and patient acceptance was satisfactory. CONCLUSIONS: Continent cutaneous urinary diversion with Charleston pouch I was satisfactory in this group of children. It provided preservation of the upper urinary tract, and achieved acceptable continence rates while allowing leakage when catheterization was not performed at recommended intervals. In addition, patient and parent acceptance was good, and complication rates were acceptable.

Mainz II and double folded rectosigmoid pouches. Experience with 95 patients.

OBJECTIVES: We report a clinical case series for construction of Mainz II or double folded rectosigmoid pouch with suitable antireflux uretero-intestinal anastomosis. MATERIALS AND METHODS: Ninety-five patients with invasive bladder carcinoma were treated by radical cystectomy and supravesical urinary shunt in form of either Mainz II {56 (58.9%)} or double folded {39 (41.1%)} rectosigmoid pouch. Antireflux techniques for uretero-intestinal anastomosis were subserosal extramural and submucosal tunnels for 122/190 (64.2%) dilated and 68/190 (45.8%) normal caliber ureters. All patients were kept on prophylactic alkalization. Evaluation included clinical, radiological, laboratory, and urodynamic evaluations. Mean follow-up was 40 months. RESULTS: Early postoperative complications were reported in seven (7.4%) cases that were treated conservatively. All patients were continent day and night. Reflux was reported in 2/122 (1.6%) renal units (RU) with dilated ureters and in 1/68 (1.5%) RU with normal caliber ureter, that was managed conservatively. Stenosis at uretero-intestinal anastomosis was reported in 10 (5.3%) RU. Laboratory investigations were within normal. Pouchometry results were comparable in both Mainz II and double folded rectosigmoid pouches. Both were low-pressure good capacity reservoirs. CONCLUSIONS: Mainz II pouch is indicated in cases of normal caliber, unilateral dilated, and some cases of bilateral dilated ureters, while double folded rectosigmoid pouch is optional in case of bilateral dilated ureters. Both have comparable low-pressure urodynamic features.

Diagnosis of unilateral single system ectopic ureter in girls in the era of magnetic resonance urography (MRU)

Objective: The ectopic ureter frequently drains an ectopic dysplastic or hypoplastic kidney. The present study aims at defining the role of MRU in establishing the diagnosis of this anomaly. Patients and Methods: Between February 1996 and March 2000; 11 girls presented or were referred to our department for management of urinary incontinence. Their age at presentation ranged from 4-9 years (mean 6.5 years). Radiological work up included abdominal ultrasound (US); excretory urogram (IVU); voiding cystourethrography (VCUG); 99 m technetium-dimercaptosuccinic acid (99m Tc-DMSA) renal scan; enhanced spiral computed tomography (CT) and magnetic resonance urography (MRU). Results: Ultrasound showed evidence of a solitary kidney with failure to visualize a contralateral kidney in 7/11 patients. In the remaining 4 patients (36.4); US revealed a pelvic kidney in two and a pelvic cystic mass in another two patients. IVU revealed only one functioning renal unit in all cases. None of the patients showed vesicoureteral reflux on VCUG. On 99m Tc-DMSA ; a single kidney was seen in 9/11 patients and ectopic pelvic kidneys with normal contralateral kidneys in 2/11 patients. The 7 patients; in whom US and 99m Tc-DMSA scan had failed to localize the kidney; underwent CT scanning which visualized a pelvic hypoplastic kidney with a normal contralateral kidney in 2/7 patients. The remaining 5 patients underwent MRU that disclosed a normal kidney with a contralateral lumbar hypoplastic kidney in one and a pelvic ectopic kidney in four. The patients were managed by nephrectomy (n=9) and ureteroneocystostomy (n=2). Conclusions: A single system ectopic ureter should be suspected in all girls with continuous urinary dribbling after the age of successful toilet training. With the inclusion of MRU into radiological workup; dysplastic or hypoplastic kidneys can be accurately localized. MRU is indicated for the diagnosis and for therapeutic planning in such cases

Endoscopic transurethral resection of bilharzial ulcers in the urinary bladder. Single-center experience with 1000 patients

Objective To report on the results of endoscopic transurethral resection of chonic bilharzial ulcers of the urinary bladder at the Assiut University Hospital; Assiut; Egypt. Patients and Methods Between June 1995 and April 2001; 1000 patients (87.3males and 12.7females) with chronic bilharzial ulcers (78de novo and 22recurrent ulcers after previous open partial cystectomy) were treated by endoscopic transurethral electroresection (TUR) at our department. Single ulcers were diagnosed in 612 (61.2); double ulcers in 261 (26.1) and multiple ulcers in 127 (12.7) patients. Ulcers of a moderate diameter (1-2 cm) were present in 505 (50.5) patients. Electroresection was done until healthy fibers of the detrusor muscle or even the prevesical fat was reached. Results The mean duration of the resection was 19.8 minutes. Extraperitoneal bladder perforation was recorded in 11 patients (1.1). In all these patients conservation was successful. Intraperitoneal bladder perforation was recorded in 16 patients (1.6). In six out of these patients conservation was successful; while peritoneal drainage was necessary in the remaining cases. Conservative management was successful in 5 cases (0.5) of secondary haemorrhage. Hospitalization was one day in 920 patients (92). After six months 862 patients (86.2) were available for follow up. 745 (86.4) were symptom-free and 794 (92.1) reported complete healing of the resected ulcer at follow-up cystoscopy. Conclusion Endoscopic transurethral electroresection is a satisfactory modality for the treatment of bilharzial ulcers of the urinary bladder

Charleston Pouch with in-situ appendix and concealed umbilical stoma

Objectives : To evaluate the functional outcome of the Charleston pouch procedure as a continent catheterizable urinary reservoir using an unaltered in-situ appendix with a triangular skin flap at its umbilical stoma with few modifications to the original technique. Patients and Methods: Between February 1999 and October 2002; 34 patients (31 males and 3 females) were studied at the Urology Department; Assiut University Hospital; Assiut; Egypt. The indications for urinary diversion were radical cystectomy for invasive carcinoma of the bilharzial bladder in 27 males and three females; and incontinent epispadias in four male patients. The age of the patients ranged between 18 and 60 years (mean 48.1 6.1 years). Mean follow up was 30 4.2 months (range 11-40 months). The evaluation during the follow-up period included clinical; laboratory; imaging and urodynamic studies to evaluate the functional outcome. Results: All patients are continent (day and night). No stomal stenosis was recorded. Laboratory investigations were within normal. The upper urinary tract remained unchanged in all patients. Pouchometry revealed that the Charleston pouch is a low-pressure (4 -21 cm H2O) reservoir with a good capacity (average 750 ml). Cancer recurrence was recorded in 3 patients at 12; 27 and 32 months. Conclusions: The Charleston pouch with in-situ appendix is an efficient versatile technique for the creation of a catheterizable continent cutaneous urinary reservoir. The umbilical stoma with triangular skin flap provides excellent cosmetic results

Retrograde ureteropyeloscopic holmium laser lithotripsy for large renal calculi.

OBJECTIVE: To assess the efficacy and safety of the retrograde ureteropyeloscopic holmium laser for treating renal stones that are too large to treat with extracorporeal shock wave lithotripsy (ESWL). PATIENTS AND METHODS: Thirty patients (22 men and eight women, mean age 43 years, range 18-62) with a renal stone burden of > 2 cm were selected for laser treatment. The stones were in the renal pelvis in 16 patients, lower calyx in five, middle calyx in two, upper calyx in one and multiple pelvic and calyceal in six. Lithotripsy was undertaken using a holmium laser through 550 microm and 200 microm laser fibres passed through a semi-rigid fibre-optic long ureteroscope or the actively deflectable flexible ureteropyeloscope, respectively. Success was defined as total fragmentation of the stone to < 2 mm in diameter and/or clear imaging on renal ultrasonography and plain films within the 3-month follow-up. Patients in whom the treatment failed received either alternative therapy or complementary ESWL. RESULTS: Endoscopic access and complete stone fragmentation was achieved in 23 of the 30 patients (77%). The treatment failed in seven patients because of poor visualization, the initial presence of stones in, or migration of their large fragments to, an inaccessible calyx. There were no major intraoperative complications. Minor complications after treatment included haematuria that persisted for 2 days in one patient and high-grade fever in two patients; all were treated conservatively. CONCLUSION: Large renal calculi that are not amenable to ESWL monotherapy can be safely and effectively treated with a retrograde endoscopic technique that seems to compete well with the more invasive percutaneous or open surgical manoeuvres.

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Electromyographic investigations reveal repetitive muscle discharges, which may originate from both neurogenic and myogenic alterations. We previously localized the SJS1 locus to chromosome 1p34-p36.1 and found no evidence of genetic heterogeneity. Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families. In so doing, we have identified the first human mutations in HSPG2, which underscore the importance of perlecan not only in maintaining cartilage integrity but also in regulating muscle excitability.

[Primary vesicoureteral reflux: report of 100 pediatric observations]. / Le reflux vésico-urétéral primitif: à propos de 100 observations pédiatriques.

In this study, the authors have reported 100 cases of primary vesico-ureteral reflux (VUR) which occurred over a 7-year period. Patient age at presentation ranged from 1 month to 13 years, with a mean age of 3 years and 5 months. Overall, a higher rate of reflux was observed in the female population (63%) which was particularly evident after the age of 3 years, but with a male predominance during the first 12 months of life. In the majority of cases, the diagnosis of VUR was made following diagnosis and investigation of urinary infection (UI). A high level of UI was the most frequent sign of VUR (87% of cases), while in 6% of cases this disorder was diagnosed during the investigation of an uropathy which was found to be complex in all subjects. An analysis of 143 ureteral reflux units (URU) showed that VUR was pathological only in 17% of cases, and that the reflux grade was I, II, III and IV in 47.4, 28.14, 11.11 and 2.34% of cases respectively. DMSA scintigraphy in 38 patients showed signs of nephropathy in 24 cases, i.e., 14 scars and a decrease in kidney size in 9 cases, and an absence of fixation for one grade IV reflux. Forty subjects with 56 reflux units (34 grade I, II and 22 grade III, IV) were treated by antibiotic prophylaxis, with a positive outcome in 85% of cases in children under 2 years of age, compared to 40% for children aged over 2 years. Only 7 patients were treated by teflon endoscopic injection, and in one case a further injection was required; 21 patients with 30 reflux units were treated by surgery at a mean age of 4 years. In conclusion, VUR is a fairly common disorder, which is frequently detected via an IU; its potential gravity is associated with the risk of subsequent nephropathy.