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1.
Genesis ; 30(1): 26-35, 2001 May.
Article in English | MEDLINE | ID: mdl-11353515

ABSTRACT

A distinctive feature of gonadal maturation in mammals is the movement to an extraabdominal location. Testicular descent is a complex, multistage process whereby the embryonic gonads migrate from their initial abdominal position to the scrotum. Failure in this process results in cryptorchidism, a frequent congenital birth defect in humans. We report here a new mouse transgenic insertional mutation, cryptorchidism with white spotting (crsp). Males homozygous for crsp exhibit a high intraabdominal position of the testes, associated with complete sterility. Heterozygous males have a wild-type phenotype, and homozygous females are fertile. Surgically descended testes in crsp/crsp males show normal spermatogenesis. Using FISH and genetic analyses, the transgenic insert causing the crsp mutation has been mapped to the distal part of mouse chromosome 5. Transgene integration resulted in a 550-kb deletion located upstream of the Brca2 gene. A candidate gene encoding a novel G protein-coupled receptor (Great) with an expression pattern suggesting involvement in testicular descent has been identified.


Subject(s)
Cryptorchidism/genetics , Mice, Transgenic , Receptors, G-Protein-Coupled , Amino Acid Sequence , Animals , Chromosome Mapping , Contig Mapping , Disease Models, Animal , Female , Gene Deletion , Homozygote , In Situ Hybridization, Fluorescence , Infertility , Male , Meiosis , Mice , Models, Genetic , Molecular Sequence Data , Mutation , Phenotype , Pigmentation/genetics , Protein Structure, Tertiary , Receptors, Cell Surface/chemistry , Receptors, Cell Surface/genetics , Reverse Transcriptase Polymerase Chain Reaction , Sequence Homology, Amino Acid , Spermatogenesis/genetics , Testis/physiology , Tissue Distribution , Transgenes
2.
J Urol ; 163(6): 1949-51, 2000 Jun.
Article in English | MEDLINE | ID: mdl-10799237

ABSTRACT

PURPOSE: In patients suspected to have the vertebral, anal, tracheoesophageal, renal, radial, cardiac and limb abnormalities (VACTERL) association we studied the frequency of upper urinary tract anomalies, prevalence of these features, predictability of upper tract pathology and proper screening evaluation. MATERIALS AND METHODS: From 1991 to 1998 we identified 55 patients with the VACTERL association. Upper urinary tract assessment, including initial renal ultrasound and voiding cystourethrography, and followup data were available for 29 boys and 15 girls. Patients were considered to have the VACTERL association when 3 or more organ systems were involved. RESULTS: Average followup was 5.4 years. Upper urinary tract involvement was noted in 41 of the 44 patients (93.2%) and vesicoureteral reflux in 17 (25 renal units). Of the kidneys 21 were hydronephrotic without reflux or obstruction, 10 were solitary, 3 were multicystic dysplastic, 8 were obstructed and only 17 were normal. A total of 27 patients (61%) underwent at least 1 genitourinary procedure, primarily ureteroneocystotomy. All children were alive at the last followup. CONCLUSIONS: The VACTERL association involves multiple serious anomalies. However, these infants generally have a good outcome. Since the upper urinary system is the most common organ system involved, patients should receive prophylactic antibiotics until an initial urological assessment with renal ultrasound and voiding cystourethrography is performed. It is essential for physicians to know that most children with the VACTERL association have urological involvement that requires treatment and long-term management.


Subject(s)
Abnormalities, Multiple , Urogenital Abnormalities , Child , Female , Humans , Hydronephrosis/etiology , Kidney/abnormalities , Male , Retrospective Studies , Vesico-Ureteral Reflux/etiology
3.
Curr Opin Urol ; 9(6): 527-31, 1999 Nov.
Article in English | MEDLINE | ID: mdl-10668572

ABSTRACT

Infants with myelomeningocele continue to be a management dilemma for urologists. This article discusses many of the current questions that surround the newborn with myelomeningocele. What radiologic studies should be performed and when? How does the clinician determine if bladder drainage is adequate or requires altering? If a problem is identified what are the surgical options? When should urodynamics be performed? Ultimately how one manages, follows and initiates treatments in the newborn will have a significant effect on the long-term morbidity seen in this population of children.


Subject(s)
Meningomyelocele/therapy , Female , Fetal Diseases/surgery , Fetus/surgery , Humans , Infant , Latex Hypersensitivity/complications , Meningomyelocele/diagnosis , Meningomyelocele/immunology , Meningomyelocele/physiopathology , Pregnancy , Prenatal Diagnosis , Urinary Bladder/physiopathology , Urodynamics , Vesico-Ureteral Reflux/surgery
4.
Acta Anaesthesiol Scand ; 41(8): 1073-6, 1997 Sep.
Article in English | MEDLINE | ID: mdl-9311410

ABSTRACT

Venous air embolism during surgery is a rare but important complication and can be rapidly fatal. We present two cases of fatal air embolism in the prone position occurring in small children undergoing surgery for progressive scoliosis. Venous air embolism is a rare complication in the prone position. This is thought to be because in this position there is virtually no gravitational gradient between the site of surgery and the right atrium. The possible sites of entry of air and ways that this may be minimized are discussed.


Subject(s)
Embolism, Air/etiology , Intraoperative Complications , Scoliosis/surgery , Child , Fatal Outcome , Female , Humans , Prone Position
6.
J Urol ; 158(3 Pt 2): 1172-4, 1997 Sep.
Article in English | MEDLINE | ID: mdl-9258164

ABSTRACT

PURPOSE: Transverse island flaps of inner preputial skin have provided a reliable technique for the repair of proximal hypospadias. The flap may be used to create a neourethra by tubularizing the flap after urethral transection or applying the flap as an onlay patch onto an intact urethral plate. We retrospectively analyzed our experience with these 2 techniques to compare outcomes. MATERIALS AND METHODS: During 11 years 132 patients underwent hypospadias repair by a single surgeon using an onlay (58) or tubularized (74) island flap technique. Surgical results were reviewed retrospectively. RESULTS: At a mean followup of 20.3 months the overall complication rate was 36% for tubularized and 31% for onlay repair, and fistula rates were 14 and 17%, respectively. Despite similar fistula rates tubularized repairs tended to have larger fistulas that required more complex repair (p = 0.0147). In 9 patients who underwent tubularize repair diverticula developed, whereas no diverticula developed after onlay repair (p = 0.0162). The rates of urethral stricture, wound infection, residual chordee and cosmetic complications were not statistically significantly different between repairs. The use of double faced repair in 30 patients provided no difference in outcome in comparison to the overall study cohort. CONCLUSIONS: Hypospadias repair using transverse island flaps offers reliable and durable outcomes. While overall complication rates were not greatly different between tubularized and onlay flap repairs, onlay repair tended to result in fistulas of smaller size and diverticula did not develop.


Subject(s)
Hypospadias/surgery , Surgical Flaps/methods , Follow-Up Studies , Humans , Male , Postoperative Complications/epidemiology , Retrospective Studies
7.
J Urol ; 158(3 Pt 2): 1265-7, 1997 Sep.
Article in English | MEDLINE | ID: mdl-9258191

ABSTRACT

PURPOSE: Renal anatomy and function are usually monitored in the myelomeningocele population using routine ultrasound as the child grows. Clinical questions arise when a renal unit is of marginal size when evaluated with nomograms derived from normal patient populations. Our goal was to construct a renal size nomogram using ultrasound for the myelomeningocele population to help the clinician identify abnormal growth. MATERIALS AND METHODS: We reviewed the charts and radiological files of 96 patients with myelomeningocele followed at our institution. Images of 930 renal units were included to construct the nomogram. Patients were excluded from study due to hydronephrosis or hydroureter, solitary kidney, recurrent symptomatic urinary tract infection, vesicoureteral reflux, reconstructive surgery or known high bladder storage pressure. RESULTS: A renal size nomogram was constructed by plotting patient age against maximal renal length on real-time ultrasound. Expected mean and standard deviations were calculated for each age group. CONCLUSIONS: Previous studies using excretory urography have shown that kidneys in the myelomeningocele population are smaller than in a healthy control population. Ultrasound is now the modality most commonly used to monitor renal anatomy. The creation of a renal nomogram based on ultrasound should help the clinician identify abnormal renal growth more accurately.


Subject(s)
Kidney/diagnostic imaging , Meningomyelocele , Adolescent , Age Factors , Child , Child, Preschool , Humans , Infant , Reference Values , Ultrasonography
8.
Urology ; 50(6): 963-6, 1997 Dec.
Article in English | MEDLINE | ID: mdl-9426731

ABSTRACT

OBJECTIVES: To analyze our experience with open pyeloplasty, with specific emphasis on procedural outcome on the basis of patient age, surgical technique, complication rate, and complication management. METHODS: All patients from 1974 to 1994 who underwent pyeloplasty at our institution were included in our review. Charts were analyzed for age at presentation, presenting signs and symptoms, type of surgical reconstruction, complications and treatment, and final outcome. RESULTS: From 1974 to 1994, 234 pyeloplasties were performed in 227 patients (108 less than 1 year old, 119 more than 1 year old). The percentage of children less than 1 year old increased throughout: 24% for 1975 to 1980, 37% for 1981 to 1990, and 69% for 1991 to 1994. Presenting signs and symptoms varied according to the age of the child at pyeloplasty. For children less than 1 year old, these were prenatal ultrasound in 86 (79%), urinary tract infection (UTI) in 9 (8%), and abdominal mass in 5 (4.6%). For children more than 1 year old, these were pain in 57 (48%), UTI in 29 (24%), hematuria in 12 (10%), and prenatal ultrasound in 3 (2.5%). Reconstruction was a dismembered pyeloplasty in all cases. The majority of patients in both age groups underwent a nonintubated repair (less than 1 year old, 99 of 114; more than 1 year old, 102 of 120). Postoperative results were evaluated by ultrasound or intravenous urography, with improvement or stable results in 95% of children less than 1 year old and in 96% of children more than 1 year old. Complications included UTI in 18 patients (7.7%), recurrent obstruction in 5 (2.1%), and persistent leak in 4 (1.7%). The complication rate was not related to age. CONCLUSIONS: The nonintubated, dismembered pyeloplasty is an excellent technique for all age groups and has a low complication rate.


Subject(s)
Kidney Pelvis/surgery , Outcome Assessment, Health Care/methods , Age Factors , Anastomosis, Surgical/methods , Diagnosis, Differential , Humans , Hydronephrosis/diagnosis , Hydronephrosis/surgery , Infant , Kidney/diagnostic imaging , Outcome Assessment, Health Care/statistics & numerical data , Postoperative Complications/diagnosis , Postoperative Complications/epidemiology , Ultrasonography , Ureter/surgery , Ureteral Obstruction/diagnosis , Ureteral Obstruction/surgery , Urography
9.
J Urol ; 156(2 Pt 2): 828-31, 1996 Aug.
Article in English | MEDLINE | ID: mdl-8683794

ABSTRACT

PURPOSE: Hypospadias has no known single etiology but it has been linked to androgen insensitivity caused by mutations of the androgen receptor gene. The purpose of this study was to search for such mutations in cases of various degrees of isolated hypospadias to determine whether such an association exists and, if so, with any particular anatomical subgroup. MATERIALS AND METHODS: Isolated deoxyribonucleic acid from the penile tissue of 40 patients undergoing reconstructive surgery was screened for mutations of the coding regions of the androgen receptor gene using single strand conformational polymorphism analysis. In cases with abnormal single strand conformational polymorphism findings sequence analysis of the deoxyribonucleic acid was performed to define the mutation. RESULTS: A missense mutation of exon 2 of the androgen receptor gene was noted in 1 patient with isolated distal penile shaft hypospadias. Sequence analysis revealed that the mutation changed amino acid residue 546 from proline to serine. No abnormalities were detected in the other 39 patients. CONCLUSIONS: Isolated distal shaft hypospadias is associated with mutations of the androgen receptor gene but these mutations appear to be a rare cause of hypospadias.


Subject(s)
Hypospadias/genetics , Receptors, Androgen/genetics , Child , DNA Mutational Analysis , Humans , Male , Mutation
10.
Br J Anaesth ; 76(6): 777-9, 1996 Jun.
Article in English | MEDLINE | ID: mdl-8679348

ABSTRACT

We measured ventilation in 12 subjects anaesthetized with enflurane (end-tidal concentration 1.25-1.45%) and nitrous oxide to assess the effect of surgical stimulation on ventilation in humans. Tidal volume and respiratory timing were measured by pneumotachograph before and just after a standardized surgical skin incision. Surgical stimulation increased ventilation by increasing tidal volume, which increased progressively over the first five breaths after incision. The first breath after the stimulus was prolonged, but the timing of the subsequent breaths returned rapidly to the duration observed before incision. Ventilation increased from median 3.6 (quartiles 2.9, 4.3) to 5.4 (3.8, 7.0) litre min-1 (P < 0.01). The increased tidal volume was not associated consistently with shortening of inspiratory duration.


Subject(s)
Anesthesia, Inhalation , Anesthetics, Inhalation , Dermatologic Surgical Procedures , Enflurane , Respiration , Adult , Female , Humans , Male , Middle Aged , Tidal Volume
11.
Can J Public Health ; 82(1): 6-10; discussion 11, 1991.
Article in English | MEDLINE | ID: mdl-2009488

ABSTRACT

Canadian Public Health Inspectors (PHI) must adapt to changes in their working environment. The spectrum of PHI duties in many provinces has expanded and become less uniform across provinces. Traditional roles have disappeared in Quebec. Possible futures are discussed along with the educational options available. The two major employment futures are either to concentrate on working within the public health team or to seek to become competitive in areas outside of traditional public health. The public health option is recommended. Education can be as a generalist or a specialist, with specialization occurring before or after graduation.


Subject(s)
Allied Health Personnel/education , Education, Medical , Public Health/education , Allied Health Personnel/trends , Forecasting , Humans , Public Health/trends , Quality Control , Quebec
12.
CMAJ ; 141(4): 287, 1989 Aug 15.
Article in English | MEDLINE | ID: mdl-2766163
17.
Can Med Assoc J ; 107(9): 910, 1972 Nov 04.
Article in English | MEDLINE | ID: mdl-4653940
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