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Congenital sacrococcygeal dysplasia is an uncommon though important cause of neuropathic bladder disease leading to progressive renal damage. In 2 cases described herein and featuring long-standing incontinence and recurrent infections, the concomittant musculoskeletal abnormalities had been treated for years, while the urinary tract condition had been largely neglected until urinary diversion or unilateral nephrectomy were required.
The cross-sectional echocardiographic features of mitral valve prolapse were defined in 26 children (ages 2-18 years) using a real-time, multiple-crystal ultrasound scanner. In each patient the physical findings of the mitral valve click-murmur syndrome were present and mitral valve prolapse had been diagnosed previously by conventional single crystal echocardiography. Mitral prolapse occurred in a familial setting in eight patients and was associated with the Marfan syndrome in five. Real-time two-dimensional echocardiography uniformly disclosed maximum mitral arching and the superior-posterior prolapse. These visual observations were confirmed by M-mode recordings derived from single elements within the array of 20 crystals. The method allowed a complete M-mode description of the phasic motion of the entire mitral apparatus and observations of the spectrum of prolapse from discrete late systolic prolapse to "hammock-like" holosystolic prolapse. Further, the recording of multiple systolic M-mode lines occurred when the ultrasound beam intersected the arched leaflets more than once. Pseudosystolic anterior motion was observed often and resulted clearly from a superimposition of echoes from the mitral annulus and from the posterior-superiorly arched prolapsed leaflets. A major finding in 22 patients was the association with prolapse of biconvex enlargement of the aortic sinuses of Valsalva and a significant increase in the diameter of the aortic root. Aortic root dilatation was most marked in, but not confined to, patients with the Marfan syndrome and was a prominent finding in six patients with minor musculoskeletal abnormalities. The presence of aortic root dilatation in children with normal body habitus raises important questions concerning the generalized nature of an abnormality of cardiac connective tissue in patients with mitral prolapse. The cross-sectional approach significantly enhances the noninvasive evaluation of mitral valve prolapse and provides an explanation for many of the single crystal observations reported previously.
PURPOSE: To evaluate the common characteristics and differences in contrast behavior of short-TI-inversion-recovery (STIR) and short-TI-inversion-recovery fast spin-echo (TurboSTIR) sequences. MATERIAL AND METHODS: Phantoms doped with increasing doses of Gd-DTPA and a pork-fat phantom were used to evaluate the dependence of the STIR and TurboSTIR signals on the T1 relaxation time. Clinical TurboSTIR images were obtained from 30 patients with musculoskeletal abnormalities and compared to conventional STIR images in 15 cases and to postcontrast TurboSTIR images in another 15 cases. RESULTS: In the phantom measurements, a significantly shorter inversion time (TI) was needed to achieve fat suppression on TurboSTIR images, and, with an identical number of signal averages, contrast-to-noise ratios were lower on TurboSTIR images. These differences between STIR and TurboSTIR can be attributed to the contribution of stimulated echoes to overall TurboSTIR signal and can be compensated by a shorter TI and a higher number of signal averages for TurboSTIR, respectively. With these adaptations, clinical TurboSTIR and STIR images showed an identical contrast behavior with fat suppression and a high sensitivity to pathological lesions but TurboSTIR saved a significant amount of scan time and reduced some types of artifacts. Contrast uptake impaired lesion conspicuity on TurboSTIR images. CONCLUSION: TurboSTIR sequences should replace conventional STIR sequences and should be performed before contrast administration.
Eighty-six male high school ice hockey players participated in this prospective study to determine both the incidence of injury in high school ice hockey and the influence of physical, situational, and psychosocial factors. Physical factors included height, weight, vision, previous injuries, musculoskeletal abnormalities, and injuries present at the time of screening evaluations. Situational factors examined were level of participation, playing time, player position, and games versus practices. Psychosocial factors such as confidence, stress, social support, positive states of mind, and mood states were also examined to determine their influences on injury. Twenty-seven injuries occurred during the 1994 to 1995 season. As hypothesized, the overall incidence of injury in high school hockey games (34.4 per 1000 player-game hours) was less than the incidence of injury in Junior A hockey (96.1 per 1000 player-game hours) and was more than previously reported for Bantam youth hockey (10.9 per 1000 player-game hours). Injuries occurred more often in games than in practices, usually as a result of collisions. Physical factors such as player position and previous injuries did not significantly predict injuries, but players in the high playing time group were more likely to be injured. Psychosocial factors of low vigor and high fatigue as measured by the Incredibly Short Profile of Mood States (ISPOMS) significantly predicted high school ice hockey injuries.
Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interesting because she developed Wilms' tumor at 21 months of age. To our knowledge, this is the first case of this association reported in the literature.
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We report a study to determine the incidence, types and rank order of congenital anomalies and related fetal and infant mortality in Gansu province in China to provide a base-line for an intervention project directed at reducing birth defects in Gansu. Forty-two communities in four counties of Gansu were randomly selected by cluster sampling, based on economic and geographical features of the province. All infants born between 1 January 2001 and 1 January 2002 (live and stillborn) were investigated in departments of gynaecology and obstetrics, in birth control centres and in facilities for women and children in county and community hospitals. The types of birth defect were classified by the diagnostic standardisation ICD-9. The overall incidence of birth defects in Gansu was 15.4/1000 births (102/6621): 6.7/1000 (44) neural tube defects, 4.7/1000 (31) low birthweight infants, 2/1000 (13) limb defects, 0.8/1000 (five) cleft lip and palate and 0.5/1000 (three) Down's syndrome. The infant mortality rate was 14.8/1000 (98), to which birth defects contributed 7.3/1000 (48). We conclude that the incidence of birth defects in Gansu is one of the highest in China, that birth defects are the leading cause of infant mortality and that neural tube defects cause most deaths.
A five-year prospective trial involving 120 patients was undertaken to investigate the aetiology and treatment of coccydynia. The cause lies in some localised musculoskeletal abnormality in the coccygeal region. Lumbosacral disc prolapse is not a significant factor. The condition is genuine and distressing and we found no evidence of neurosis in our patients. Physiotherapy was of little help in treatment but 60% of patients responded to local injections of corticosteroid and local anaesthesia. Manipulation and injection was even more successful and cured about 85%. Coccygectomy was required in almost 20% and had a success rate of over 90%.
The aim of this study was to ascertain the frequency of adverse events occuring during GH therapy in Australia and New Zealand since 1988. Data for children receiving GH has been collected prospectively on a national database, OZGROW, after informed consent has been given. Adverse events were coded by clinicians and have been analysed in relation to the nature of the event and the underlying diagnosis. There were 2922 subjects analysed, representing 9004 years of GH therapy. 151 subjects reported a total of 210 adverse events giving an overall frequency of 2.3% adverse events/patient treated year. Events that were probably related to GH therapy included peripheral oedema, injection site problems and increased frequency of kyphoscoliosis and slipped epiphysis in some groups. Adverse events were more frequent in growth hormone deficient children who had previously been treated for leukaemia, 8.1%, and in children previously treated for craniopharyngioma, 5.6%. A lower frequency was found for those with a diagnosis of idiopathic short stature, 1.6%, and familial short stature, 0.9%. Kyphoscoliosis was more frequently seen in Turner's syndrome, and slipped epiphyses in adolescent individuals with growth hormone deficiency, especially following treatment for leukaemia. There were no de novo tumours reported but the frequencies of recurrence/patient year for leukaemia, solid cranial tumours and craniopharyngioma were 1.1%, 2.2% and 3.8% respectively. A low frequency of adverse events has been reported on the OZGROW database but subsets of patients may be at increased risk of musculoskeletal abnormalities during GH therapy. The frequency of tumour recurrence during therapy is not different from known rates of recurrence in individuals not treated with GH.
BACKGROUND: Little is known about the clinical features and spectrum of diagnoses in children with "stroke mimics," those with acute neurologic deficits but without cerebrovascular diseases. OBJECTIVES: Our goal was to describe patients with stroke mimics and to determine if clinical features predict benign diagnoses. METHODS: Our stroke consult team registered a prospective consecutive cohort of 143 patients with acute presentations suspicious for cerebrovascular disease from November 2003 to November 2004. Cases in which stroke was ruled out (stroke mimics) were reviewed for clinical features and diagnostic test results and were classified "benign" if there was no structural brain lesion and there was an expectation of complete recovery. RESULTS: Of the 143 cases evaluated for suspected stroke, 30 (21%) had stroke mimics. Presenting signs included seizure (n = 11), headache (n = 9), mental status change (n = 6), focal weakness (n = 14), and focal sensory change (n = 7). Eleven patients had "benign" diagnoses (3 migraine, 3 psychogenic diagnoses, 3 musculoskeletal abnormalities, 1 delirium, and 1 episodic vital sign changes). Nineteen patients had "not-benign" diagnoses (3 reversible posterior leukoencephalopathy syndrome, 3 neonatal seizures, 2 vascular anomalies, 2 inflammatory disease, 2 intracranial infection, 2 epilepsy, 2 metabolic stroke, 1 tumor, 1 drug toxicity, and 1 idiopathic intracranial hypertension). Except for the presence of seizures, there were no significant differences in presentation or risk factors between benign and not-benign cases. CONCLUSIONS: Many disorders mimic childhood stroke. History and clinical presentation often do not distinguish the one third of patients with benign disorders from the two thirds with more serious problems, necessitating timely comprehensive investigations, especially brain MRI.
Growth and clinical biochemistry were examined over 30 wk in 42 light horse weanlings fed high-forage diets (73 to 77% alfalfa) or high-concentrate diets (63 to 65% grain and grain by-products) that were either low (.24 to .35%), normal (.68%) or high (.95 to 1.06%) in P. Body weights and blood samples were taken every 2 wk. Forage and concentrate diets contained 2.65 and 3.09 Mcal digestible energy/kg DM, respectively. Calcium and P digestibilities were highest (P less than .01) in those horses fed the low P diets, but only horses fed forage-low P diets may have absorbed insufficient P. Serum alkaline phosphatase activity, serum Ca, serum Mg and plasma Cu concentrations were unaffected by diet but varied (P less than .01) among sampling periods. The concentrations of serum Ca and P of all groups fluctuated to wk 10 before being stabilized at means of 2.77 and 2.03 mmol/liter, respectively. Plasma Zn concentrations increased quadratically with age and were 3.8% greater (P less than .05) for concentrate-fed horses than for forage-fed horses. Mild to moderate physitis and flexure limb deformities occurred in 88% of the weanlings principally between wk 6 and 8 of the study. Limb deformities had largely resolved by wk 12. Marginally deficient P intakes did not alter productivity, feed intake, blood mineral concentration in the final 20 wk or the occurrence of musculoskeletal abnormalities in weanling horses.
An experiment was undertaken to study the survival and development of fetal epiphyses after excision and reimplantation in rats. The proximal part of fibula in the hindlimb was dissected free from surrounding tissues and then reimplanted again. Of 80 fetuses that were operated on, nine that had been operated on survived to birth. Histological examination on the hindlimbs of these rats at four and six weeks after birth showed that the reimplanted segments survived, and the bony nuclei of the epiphyses were present. Radiographically, at 6 weeks old, secondary centres of ossification at proximal ends of the fibulas could be seen in both operated and normal limbs. These results indicate the clinical possibility of correcting congenital musculoskeletal abnormalities in the future by in utero transplantation of epiphyses.
The King-Denborough syndrome (KDS) is a congenital myopathy with musculoskeletal abnormalities, and definitely associated with susceptibility to malignant hyperthermia (MH). We present the first report in Japan concerning the management of a KDS patient. A 2-year-old boy was scheduled for cryptorchidopexy. He had some physical signs of KDS, e.g. pectus excavatum, low-set ears, malar hypoplasia, micrognathia, ptosis and down-slanting palpebral fissures. Moreover, his mother and maternal grand-uncle had medical history of MH. Therefore, he was diagnosed as KDS by pediatricians. All of the preoperative examinations, including serum creatine phosphokinase level, are normal. Previous 15 case-reports suggest that in KDS patients MH might be triggered by volatile anesthetics. To avoid the trigger, we maintained the general anesthesia with propofol, fentanyl and vecuronium. During perioperative period, his body temperature was 36.3-38.1 degrees C, and no symptom of MH was observed. It is rare that a diagnosis of KDS is made preoperatively since the MH-induction is involved in the criteria of this syndrome. In the anesthesia of patients who are suspected of KDS from their characteristic features or familial histories, an anesthesiologist should pay attention to prevent MH. The total intravenous anesthesia method appears useful for the management of KDS.
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A correlation has been reported in the dental literature between temporomandibular disorders and musculoskeletal abnormalities, however, the question whether they modify body postural sway remains controversial. In the present investigation, the Craniomandibular Index was used to evaluate the clinical extension of temporomandibular joint dysfunction and related problems in 40 patients with normal vestibular function and in 42 patients with peripheral vestibular disorders. Balance function was assessed by static posturography and body sway area was measured in two conditions: i) eye open, and g) eye closed. Data were compared to those of 40 healthy subjects. Postural control showed a significantly different behaviour between groups with an increase in average body sway in patients with craniomandibular disorders as opposed to controls (p < 0.005). Although the involvement of the stomatognathic apparatus was not quantitatively different in the two groups of patients, those also presenting a peripheral vestibular disorder exhibited greater average body sway than patients with only craniomandibular disorders (p < 0.005). The latter showed a greater average body sway than controls only in the trial with eyes closed (p < 0.05). The results demonstrated that craniomandibular alterations could produce moderate postural instability in patients with a normal vestibular function. Conversely, their association with peripheral vestibular disorders becomes a real challenge to the upright quiet stance probably due to a negative effect of somatosensory origin on the vestibulo-spinal reflex impairment.
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