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PubMedDate not supplied

Bladder neck dysynergia in spinal cord injury.

Urodynamic evaluations were performed in 43 male patients with spinal cord injuries, before any therapeutic decisions, and a minimum of 5 mo following the injury. Results were subdivided according to level of injury. Mean detrusor contraction pressures, incidence of detrusor-sphincter dysynergia (DSD), and incidence of detrusor-bladder neck dysynergia (DBND) were calculated. The incidence pattern of DBND was found to follow closely the incidence pattern of DSD, with the highest incidence among the upper thoracic injuries, considerably more than among the cervical injuries. A significantly higher resting detrusor pressure differential was found among the patients with DBND. This was felt to represent sympathetic dysfunction and poor accommodation and is proposed to be secondary to adrenergic detrusor neoinnervation.

Humans↗

PubMed2005

Delay correlation subspace decomposition algorithm and its application in fMRI.

This paper reports a new delay subspace decomposition (DSD) algorithm. Instead of using the canonical zero-delay correlation matrix, the new DSD algorithm introduces a delay into the correlation matrix of the subspace decomposition to suppress noises in the data. The algorithm is applied to functional magnetic resonance imaging (fMRI) to detect the regions of focal activities in the brain. The efficiency is evaluated by comparing with independent component analysis and principal component analysis method of fMRI.

Algorithms↗

PubMed1997

Feasibility of urodynamic study (combined cystometry and electromyography of the external urethral sphincter) under general anesthesia in children.

BACKGROUND: To assess the feasibility of urodynamic study under general anesthesia (GA) we performed electromyography of the external urethral sphincter (EUS-EMG) on 73 children and cystometry (CM) alone on 10 children. METHODS: Subjects were divided into 3 groups. Those in groups I and II were suspected of having voiding dysfunction with (group I) or without (group II) overt neurospinal defects, while those in group III were thought to be functionally normal. EUS-EMG was performed under light anesthesia following cystourethroscopy to examine structural abnormalities. Atropine sulfate premedication was not used for the anesthetic procedure; muscle relaxants were used only for tracheal intubation. RESULTS: Voiding was observed in 83% of the patients. Among patients who voided, detrusor-external sphincter dyssynergia (DSD) was noted in 7 (38%) group I patients and 6 (19%) group II patients; in group III, voiding was synergic in all patients. In 10 cases, CM alone was carried out both under anesthesia and in the waking state; anesthesia suppressed detrusor hyperreflexia (DH) in all 9 patients but produced no change in bladder compliance. CONCLUSIONS: In children with urinary disorders, urodynamic study under GA following cystourethroscopy is a feasible method for assessing EUS function and documenting DSD; DH is not evaluable, however. Stratifying urinary management on the basis of these examinations resulted in satisfactory clinical outcomes.

Adolescent↗

PubMed2006

Chronic prostatitis during puberty.

OBJECTIVE: To investigate the features of chronic prostatitis (CP) during puberty and the effects of biofeedback on young males with this disease. PATIENTS AND METHODS: In all, 40 patients were divided into two groups; group 1 included 25 pubertal patients with CP (mean age 16.5 years, sd 1.1) and group 2 was a control group including 15 patients (mean age 16.2 years, sd 1.2) with a normal lower urinary tract. National Institute of Health-Chronic Prostatitis Symptom Index (NIH-CPSI) scores (three parts) were assessed individually in both groups. Expressed prostatic secretions and urine samples after prostate massage from group 1 were cultured to determine whether patients were infected with bacteria, and group 1 was categorized into various NIH types. Each patients in the two groups underwent urodynamics and group 1 were treated with biofeedback. RESULTS: In group 1, there were one, three and 21 patients with type II, IIIA and IIIB prostatitis. The incidence of staccato voiding and detrusor-sphincter dyssynergia (DSD), and the maximum urinary flow rate (Qmax), postvoid residual urine volume (PVR), maximum detrusor pressure (Pdetmax) and maximum urethral closure pressure (MUCP) between the groups were significantly different (P < 0.05). The total NIH-CPSI scores and all the subdomains between the groups before biofeedback were significantly different (P < 0.001). In group 1 the difference in NIH-CPSI scores and Qmax before and after biofeedback was significant (P < 0.05). CONCLUSIONS: The main type of CP during puberty is IIIB; the dominating symptom is a voiding disorder. The impact on life and psychological effects are substantial. Pubertal boys with CP have pelvic floor dysfunction and several abnormal urodynamic values, i.e. staccato voiding, DSD, decreasing Qmax, and increasing Pdetmax and MUCP. The effect of biofeedback strategies for treating pubertal CP is satisfactory.

Adolescent↗

PubMed1995

Organization and transcriptional regulation of the Escherichia coli K-12 D-serine tolerance locus.

We have reinvestigated the genetic organization and the transcription regulation of the dsd operon of Escherichia coli. By combining genetic and biochemical studies, it is demonstrated that the regulatory region of the operon and the gene encoding the specific regulator of D-serine tolerance (dsdC) had been misplaced in previous work on the dsd system. Also, the previous erroneous DNA sequence of the dsdC gene has been corrected. It turned out that an additional gene (dsdX) is present immediately upstream of dsdA (encoding D-serine deaminase) and that dsdC is located adjacent to dsdX. The dsdXA genes are cotranscribed from a common promoter region present in the dsdX-dsdC intercistronic region. The DsdC activator belongs to the LysR-type of transcriptional regulators and is absolutely required for dsdA expression. Additionally, the activity of the dsdXA promoter depends on the cyclic AMP receptor protein, and the two activators act in concert to synergistically activate transcription.

Amino Acid Sequence↗

PubMed1967

"Position effect" on dominance in the D-serine deaminase system of Escherichia coli K-12.

A completely stable F32 merodiploid has been isolated, which has the dsd genotype dsdA(+)dsdCx3 /F -dsdA(+)dsdC(+). The stabilization apparently does not result from an alteration in the F, or from its integration in the chromosome, but rather from a chromosomal aberration. The stable strain can exist in two forms, which interconvert at low frequency. In one form, the episomal dsd markers are in normal apposition with the chromosomal markers, and in this case cis dominance of dsdCx3 is incomplete. In the other form, the two regions are not in normal apposition, and dsdCx3 is completely cis dominant. A model to explain these findings is presented.

Chromosome Aberrations↗

PubMed2001

Quantitative assessment of dural ectasia as a marker for Marfan syndrome.

PURPOSE: To establish normal values for lumbosacral dural sac dimensions with magnetic resonance (MR) imaging and to use these values to assess the sensitivity and specificity of dural ectasia as a marker for Marfan syndrome. MATERIALS AND METHODS: MR imaging was performed to measure dural sac diameter (DSD) from L1 through S1 in 44 adult patients with Marfan syndrome and in 44 matched control subjects. DSD values were corrected for vertebral body size, yielding dural sac ratios (DSRs). The control subjects served to establish the upper limit of normal DSR values at the L1 through S1 levels. RESULTS: Cutoff values for normal DSRs for L1 through S1 were 0.64, 0.55, 0.47, 0.48, 0.48, and 0.57. Significant DSR differences were shown at all levels between patients with Marfan syndrome and control subjects (P <.001 at all levels). At L1 through S1, the sensitivity of dural ectasia as a marker for Marfan syndrome was 45%-77%, and the specificity was 95% or greater. By combining levels L3 and S1, dural ectasia as a marker for Marfan syndrome yielded a sensitivity of 95% (42 of 44 patients) and a specificity of 98% (43 of 44). The presence of dural ectasia excelled, compared with the presence of other Marfan syndrome manifestations in the patient population. CONCLUSION: Abnormal DSR values at L3 or S1 can be used to identify Marfan syndrome with 95% sensitivity and 98% specificity.

Adolescent↗

PubMed1981

Clinical overlap among familial subtypes of unipolar depression.

Unipolar depressives (n = 288) were subclassified according to family history. Depression spectrum patients (DSD; n = 104) were defined as those with first-degree relatives suffering from alcoholism. Familial pure depression patients (FPDD; n = 86) were those with only depression in the immediate family, and sporadic depressive patients (SDD; n= 98) had negative family histories. An analysis was performed using index symptoms, precipitating events, and premorbid personality features. A positive family history was associated with greater premorbid personality difficulties. This pattern was highlighted when each was compared to SDD. DSD and FPDD could not be differentiated from each other. The differences between them and SDD could not be explained by the differing age distribution. Overall, the premorbid and index symptom differences were not striking enough to be clinically useful.

Age Factors↗

PubMed2005

Detection and quantification of sulfated disaccharides from keratan sulfate and chondroitin/dermatan sulfate during chick corneal development by ESI-MS/MS.

PURPOSE: To identify and quantify changes in keratan sulfate (KS) and chondroitin/dermatan sulfate (CS/DS) sulfated disaccharides in the developing chick cornea using electrospray ionization tandem mass spectrometry (ESI-MS/MS). METHODS: Cryostat sections of fresh nonfixed corneas were obtained from White Leghorn embryonic day (E)8 to E20 chicks, and from 4- and 70-week-old chickens. Tissue sections on glass slides were incubated with selected glycosidase enzymes. Digest solutions were analyzed directly by ESI-MS/MS. RESULTS: The concentration of KS monosulfated disaccharide (MSD) Gal-beta-1,4-GlcNAc(6S) in E8 cornea equaled that at E20, declined to its lowest level by E10, increased to a second peak by E14, decreased to a second low by E18, peaked again by E20, and remained high in adult corneas. A similar concentration profile was observed for KS disulfated disaccharide (DSD) Gal(6S)-beta-1,4-GlcNAc(6S), and thus also for total sulfated KS disaccharides. The molar percent of DSD was higher than that of MSD from E8 to E18, equivalent at E20, and less than that of MSD in adult corneas. In contrast, total concentration of CS/DS Deltadi-4S plus Deltadi-6S decreases as development progresses and is lowest in adult corneas. Concentration and molar percent of Deltadi-6S is highest at E8, then decreases through development as the concentration and molar percent of Deltadi-4S increases from E8 and exceeds that of Deltadi-6S after E14. CONCLUSIONS: New, rapid, direct chemical analysis of extracellular matrix components obtained from sections from embryonic and adult chick corneas reveals heretofore undetected changes in sulfation characteristics of KS and CS/DS disaccharides during corneal development.

Animals↗

PubMed2006

Normal female phenotype and ovarian development despite the ovarian expression of the sex-determining region of Y chromosome (SRY) in a 46,XX/69,XXY diploid/triploid mosaic child conceived after in vitro fertilization-intracytoplasmic sperm injection.

CONTEXT: Diploid/triploid mosaicism (mixoploidy) is a rare chromosomal abnormality characterized by mental and growth retardation, hypotonia, and dysmorphic features such as facial asymmetry, low-set ears, and syndactyly. All 46,XX/69,XXY cases fall into three phenotypic groups: male with testicular development, ovotestis disorder of sex development (DSD), or undervirilized male DSD. All phenotypic females with diploid/triploid mosaic reported so far had 46,XX/69,XXX karyotype. PATIENT: We report an 8-year-old girl conceived after in vitro fertilization-intracytoplasmic sperm injection with normal internal/external genital and ovarian development despite 46,XX/69,XXY mosaicism and normal expression of sex-determining region of Y chromosome (SRY) in her gonads. INTERVENTION: Because of the increased risk of gonadoblastoma resulting from Y chromosome mosaicism, her ovaries were removed by laparoscopy. Ovarian tissue was analyzed histologically as well as by fluorescence in situ hybridization, PCR, and RT-PCR amplification to determine the localization of Y chromosome and expression of SRY and DAX1 mRNA. Methylation-specific PCR was used to assess the inactivation pattern of X chromosomes. RESULTS: By laparoscopy, internal female genital anatomy appeared to be normal. Cytogenetic and molecular methods confirmed the presence of intact and functionally active Y chromosome in the ovary. Strikingly, histological assessment of the gonads showed normal ovarian architecture with abundant primordial follicles despite the presence of the Y chromosome in ovarian follicles and the expression of SRY mRNA in gonadal tissue. CONCLUSION: This case illustrates that normal ovarian development is possible in the presence of Y chromosome in ovarian follicles and despite the expression of SRY in ovarian tissue. Furthermore, this is the first documented case of mixoploidy after in vitro fertilization-intracytoplasmic sperm injection and the only phenotypic female with 46,XX/69,XXY karyotype.

Child↗

PubMed1999

Micturitional disturbances are associated with impaired breathing control in multiple sclerosis.

STUDY OBJECTIVES: To investigate whether the localization of multiple sclerosis (MS), the duration of the disease, and the level of neurologic functioning in patients with MS predispose them to disturbed breathing control. DESIGN: Case-control study. SETTING: Outpatient pneumology department of a university hospital. PATIENTS: Twenty-three MS patients and 51 healthy control subjects. MEASUREMENTS AND RESULTS: Resting mouth occlusion pressure at 0.1 s after onset of inspiratory effort (P0.1) was measured during the hypercapnic response (HCR) and the hypoxic response (HR) in all subjects. The Kurtzke expanded disability status scale and the functional system score were used to describe the level of neurologic functioning of the MS patients. Predictors of HCR and HR were assessed by multiple regression analysis. Low maximal inspiratory pressure (MIP) values correlated with low resting P0.1 values (r = 0.44; p = 0.05), although in neuromuscular diseases, high resting P0.1 values are usually found to compensate for low MIPs. Detrusor-sphincter dyssynergia (DSD) was the only predictor for lower ventilatory HCR (p = 0.006; r2 = 0.52), lower P0.1 HCR (p = 0.004; r2 = 0.47), lower ventilatory HR (p = 0.04; r2 = 0.28), and lower P0.1 HR (p = 0.04; r2 = 0.10); low MIPs and pyramidal tract involvement had no role. CONCLUSIONS: (1) Impaired control of breathing in some MS patients is related mainly to central defects. (2) DSD is the most important predictor of disturbed ventilatory control, presumably because the micturition and pneumotaxic center are closely related and located in the rostral pons. (3) No relationship with the duration of the MS disease could be demonstrated, which can be explained by the variable course of MS itself.

Adult↗

PubMed1998

Management of hypoparathyroidism during pregnancy--report of twelve cases.

There is no established therapeutic regimen for treatment of hypoparathyroidism during pregnancy. This is due particularly to uncertainty about the use of vitamin D or its analogues, as in animal experiments teratogenic side-effects have been reported. Nevertheless, vitamin D or its analogues are required to control tetany predisposing to abortion and preterm labour. We herein report the course of two pregnancies in a hypoparathyroid woman treated with calcitriol (1,25(OH)2D3). Additionally, we describe the outcome of pregnancy in ten women receiving calcitriol, reported to the Drug Safety Department (DSD), Hoffmann-La Roche AG. A 29-year-old hypoparathyroid woman receiving chronic treatment with calcitriol (0.25 microg/day) and calcium (1.5 g/day) was referred in the 6th week of her first pregnancy. Calcitriol was initially discontinued, but during the 20th week of pregnancy recurrent tetany occurred (serum calcium 1.74 mmol/l). Calcitriol (0.25 microg/day) was added, stabilizing serum calcium around 2.15 mmol/l with 1,25(OH)2D3 concentrations around 60 ng/l (normal range 35-80 ng/l). To maintain normocalcaemia the calcitriol dose was increased to 0.5 microg/day during the 33rd week and to 0.75 microg/day shortly before delivery of a healthy girl in the 3 7th week. During her second pregnancy calcitriol was given initially at a dose of 0.25 microg/day with further adaptation to 0.5 microg/day during the 20th and to 1.00 microg/day in the 31st week. Serum calcium and 1,25(OH)2D3 were continually within the lower normal range. She gave birth to another healthy girl during the 39th week. In eight of the ten pregnancies reported to the DSD no adverse effects of calcitriol (0.25-3.25 microg/day) were seen and healthy babies were delivered. In two retrospectively reported cases, serious adverse events were described: premature closure of the frontal fontanelle, and stillbirth in the 20th week due to complex fetal malformation respectively. However, in both cases the causative role of calcitriol administration remains highly questionable. We conclude that, during pregnancy, management of maternal hypoparathyroidism with calcitriol and calcium is feasible, if the 1,25(OH)2D3 concentrations are adapted to the physiological needs during pregnancy and serum calcium levels are kept in the lower normal range.

Adult↗

PubMed2006

Quality of life in 70 women with disorders of sex development.

OBJECTIVE: The aim of this study was to assess the quality of life and psychosocial well-being in women with disorders of sex development (DSD). DESIGN: An open case-control study. METHODS: Social and psychiatric information was collected via a structured interview from 70 Danish women diagnosed with DSD, 70 controls matched on sex, age, and school education, and six women with isolated genital malformations. Quality of life and mental distress were assessed by 'Quality of Life-Assessment of Growth Hormone Deficiency in Adults' (QoL-AGHDA) and three symptom scales from the 'Hopkins Symptom Checklist' (SCL-90-R; i.e. somatization, depression, and anxiety) respectively. For both measures, higher scores reflected poorer outcomes. RESULTS: Present relationships and having children were less frequent in patients than in controls (P = 0.02 and P < 0.001 respectively). Previous suicidal thoughts (P = 0.002) and a higher frequency of psychological/psychiatric counseling for severe problems (P = 0.06) were more frequently reported in patients than in controls. The mean QoL-AGHDA score was significantly higher in patients than in controls (5.5 vs 2.9; P = 0.002), especially for congenital adrenal hyperplasia (CAH) females (P = 0.01) and virilized 46,XX and 46,XY females (P = 0.04). The total SCL score was higher in patients than in controls (mean 23.2 vs 20.0), reaching significance for anxiety (mean 6.3 vs 4.3, P = 0.03) with highest score in CAH (P = 0.01). CONCLUSION: An impaired quality of life and more affective distress were observed especially in CAH patients and virilized 46,XX and 46,XY females. This may be caused by trauma from distressing diagnostic procedures, the chronic illnesses per se, and psychosocial consequences of the disorders.

Adrenal Hyperplasia, Congenital↗

PubMed2000

The pivotal role of deep vein thrombophlebitis in the development of acute disseminated staphylococcal disease in children.

Deep vein thrombophlebitis (DVT) and septic pulmonary emboli (PE) are rare in children. The association of DVT and acute disseminated staphylococcal disease (DSD) during childhood has not been previously reported. We report 3 children who developed a triad of DVT, septic PE, and acute osteomyelitis with Staphylococcus aureus cultured from blood and bone. One child succumbed, while 2 survived following prolonged, morbid hospitalizations. The rapid clinical deterioration observed in these patients might be caused by the aggressiveness of staphylococcal infection combined with an ongoing showering of septic emboli from the ileo-femoral DVT. We suggest that infected DVT with septic PE had a pivotal role in the development of DSD in these children. The presence of this triad should prompt aggressive treatment with the appropriate antibiotics, anticoagulation, surgical drainage, and assisted ventilation when indicated.

Acute Disease↗

PubMed1990

[A case of neurogenic bladder due to arachnoid cyst of the middle cranial fossa].

A 6-year-old girl, with urinary incontinence for the past 3 years, showed an overactive bladder and detrusor-sphincter dyssynergia (DSD) in urodynamic study. An epileptic focus in the right occipital area, as well as a large arachnoid cyst in the left middle cranial fossa was revealed by EEG and intracranial CT. After surgery for the arachnoid cyst, urinary incontinence was improved with disappearance of the epileptic focus in EEG, and an alteration of overactive bladder into normolactive one and improvement of DSD were observed in urodynamic study. It was considered that the urinary incontinence of this case might be associated with the ectopic epileptic focus due to the arachnoid cyst.

Arachnoid↗

PubMed1990

[Two cases of neurogenic bladder due to HTLV-1 associated myelopathy (HAM)].

Case-1 (24-year-old female) had complained of slowly progressive urinary incontinence (since 14 years old) and gait disturbance (since 18 years old). A marked pyramidal disorder was observed, and anti-HTLV-1 antibody (1:640) was present in her peripheral blood. She was diagnosed as having HTLV-1 associated myelopathy (HAM). Repeated urodynamic studies (UDS) revealed exacerbation of overactive bladder and detrusor-sphincter dyssynergia (DSD) with the progress of the disease. Case-2 (48-year-old male) had complained of gait disturbance (since 32 years old) and progressive urinary hesitancy (since 46 years old). Physical examination revealed a marked pyramidal disorder. Anti-HTLV-1 antibody (1:200) and ATL-like cells were present in his peripheral blood. He was diagnosed as having HAM. The voiding cystourethrography demonstrated an abnormal change of the bladder wall. UDS revealed overactive bladder and marked DSD. Medications based on adrenocortical steroids and urological cares have improved urinary disturbance, in both cases.

Adrenal Cortex Hormones↗

PubMed1994

[Three cases of neurogenic bladder due to neuro-Beçhet disease].

We reported three cases of neurogenic bladder due to neuro-Beçhet disease. Case 1 (24-year-old male) and case 3 (54-year-old male) had complaint of urinary frequency and urinary incontinence. Case 2 (35-year-old male) had a complaint of urinary retention. Uro-dynamic study were performed repeatedly in each case. Two cases showed overative detrusor activity in storage phase and normal or hypo detrusor activity in voiding phase. One case (case 2) showed normal detrusor activity in storage phase and acontractile in voiding phase. All cases showed detrusor-sphincter dyssynergia (DSD). All cases were managed with clean intermittent catheterization. Six months later case 2 complained of urge incontinence. Repeated uro-dynamic study revealed that bladder function changed from normal detrusor to overactive detrusor in storage phase. These findings suggest that neurogenic bladder due to neuro-Beçhet disease is characterized uro-dynamical by overactive detrusor in storage phase and DSD in voiding phase.

Adult↗

PubMed1997

[Conventional and ambulatory urodynamic study on patients with chronic prostatitis syndrome].

To study the urodynamic findings of chronic prostatitis syndrome (CPS), 58 patients with chronic prostatitis and prostatodynia were subjected to the urodynamic investigation that included conventional medium filling urodynamic (CMG) tests (urethral pressure profile, filling cystometry, voiding pressure-flow study) and ambulatory urodynamic monitoring (AM) by using Dantec Menuet and Urodec 500 AM system. 55 BPH patients and 20 normal men were taken as control groups. CPS patients had function bladder outflow obstruction (FBOO). FBOO resulted in the detrusor instable (DIS, 12.1%), detrusor-sphincter dysnergia (DSD, 100%) and detrusor dysconstractility (DDC, 6.9%), and resulted in clinical symptoms. FBOO resulted from the urethal sphincter spasm and DSD.

Adolescent↗