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Results for “Woree syndrome”

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At least 19 recordsLinked to original sources
PubMed1997

Detection of substance P in human tears by laser desorption mass spectrometry and immunoassay.

PURPOSE: To determine whether substance P is present in human tears. METHODS: Tear samples (1-2 microliters) were collected from one eye of each of 12 subjects. Two of the eyes had dry eye syndrome, two wore contact lenses and had dry eye syndrome, and eight were normal. Five of the eight normal eyes were scheduled to undergo excimer laser refractive surgery, and tears were collected from these eyes before and after surgery. Tear samples were analyzed by laser desorption mass spectrometry. Pooled samples from one individual were subjected to enzyme-linked immunoabsorbent assay. RESULTS: Laser desorption mass spectra of the 18 tear samples displayed well defined peaks with mass to charge (m/z) ratios ranging from 1343.7 to 1355.9 and/or 1356.9 to 1364.7, corresponding to an average m/z of 1349.8 +/- 1.13 for protonated substance P and 1361.2 +/- 0.54 for oxidized substance P obtained from 14 mass spectra of standards formulated with substance P concentrations ranging from 10(-4) M to 10(-12) M. As confirmation, an enzyme-linked immunoabsorbent assay performed twice on pooled tears from one eye detected substance P in both replicates at a concentration of 125 pg/ml (9.26 x 10(-11) M). CONCLUSIONS: These findings demonstrate that substance P is a component of tears obtained from normal eyes of men and women ranging in age from 26 to 60 years, from eyes fitted with contact lenses, from eyes with dry eye syndrome, and from eyes 1 and 2 days after excimer laser refractive surgery. Whether the concentration of substance P in tears varies with sex, age, or eye condition, the source of substance P in tears, and its role in tears remains to be discovered.

Adult↗
PubMed2026

WWOX-related developmental and epileptic encephalopathy (WOREE): A case series of seven patients from Argentina.

PURPOSE: WWOX-related developmental and epileptic encephalopathy (WOREE) is a rare autosomal recessive disorder caused by biallelic pathogenic WWOX variants, characterized by very early-onset epilepsy, profound developmental delay, and progressive brain abnormalities. Detailed electroclinical descriptions remain limited. METHODS: We conducted a retrospective study of seven patients with pathogenic/likely pathogenic WWOX variants. Clinical features, seizure evolution, EEG findings, brain MRI, and genetic data were reviewed. Epilepsy syndromes were classified according to International League against Epilepsy (ILAE) criteria. Variants were identified through next-generation sequencing and interpreted following American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS: Median seizure onset was 3 months (range 2-6). Five patients presented with focal seizures evolving to infantile epileptic spasms syndrome (IESS), while two had IESS at onset. Epilepsy was drug-resistant in all. Developmental delay was evident from birth with generalized hypotonia, acquired microcephaly, and impaired visual attention. Four patients had dysmorphic features. During the IESS period, EEG showed hypsarrhythmia in six patients and a severely disorganized encephalopathic background that did not strictly fulfill the criteria for hypsarrhythmia in one. Brain MRI revealed abnormalities in all patients, including frontotemporal atrophy and corpus callosum hypoplasia; delayed myelination was observed in one case. Eight pathogenic/likely pathogenic WWOX variants were found; including one novel variant (NM_016373.4:c.571C>T, p.(Gln191*)). The recurrent splice-site variant NM_016373.4:c.107+1G>A was identified in five patients, suggesting a possible regional founder effect. CONCLUSION: WOREE shows a recognizable electroclinical and neuroimaging profile with early drug-resistant epilepsy and profound developmental delay. Recognition of this pattern may facilitate early diagnosis and targeted genetic testing, particularly in populations with recurrent variants.

Developmental and epileptic encephalopathy↗
PubMed2006

Headaches and the N95 face-mask amongst healthcare providers.

BACKGROUND: During the 2003 severe acute respiratory distress syndrome epidemic, healthcare workers mandatorily wore the protective N95 face-mask. METHODS: We administered a survey to healthcare workers to determine risk factors associated with development of headaches (frequency, headache subtypes and duration of face-mask wear) and the impact of headaches (sick days, headache frequency and use of abortive/preventive headache medications). RESULTS: In the survey, 212 (47 male, 165 female) healthcare workers of mean age 31 years (range, 21-58) participated. Of the 79 (37.3%) respondents who reported face-mask-associated headaches, 26 (32.9%) reported headache frequency exceeding six times per month. Six (7.6%) had taken sick leave from March 2003 to June 2004 (mean 2 days; range 1-4 days) and 47 (59.5%) required use of abortive analgesics because of headache. Four (2.1%) took preventive medications for headaches during this period. Multivariate logistic regression showed that pre-existing headaches [P = 0.041, OR = 1.97 (95% CI 1.03-3.77)] and continuous use of the N95 face-mask exceeding 4 h [P = 0.053, OR = 1.85 (95% CI 0.99-3.43)] were associated with development of headaches. CONCLUSIONS: Healthcare providers may develop headaches following the use of the N95 face-mask. Shorter duration of face-mask wear may reduce the frequency and severity of these headaches.

Adult↗
PubMed1994

The burning mouth syndrome: lack of a role for contact urticaria and contact dermatitis.

BACKGROUND: The burning mouth syndrome is poorly understood and mainly affects postmenopausal women. Dental allergens have seldom explained the burning. OBJECTIVE: Eight patients (seven women, one man) (mean age 62.5 years) who wore dentures and had the burning mouth syndrome were investigated to determine whether contact urticaria, allergic contact dermatitis, or pressure urticaria played a role. Only patients who had minimal to no erythema of the mucosa were included. METHODS: A complete blood cell count, fasting chemistry profile, and potassium hydroxide examination and cultures for Candida and dermatophytes were obtained. Contact urticaria and patch testing with control substances were performed with a panel of 25 potential denture allergens. RESULTS: Complete blood cell counts and fasting chemistry profiles were normal. One positive Candida culture was found, but no improvement in the symptoms was noted after treatment. All patients tested positive to histamine and to at least two of the nonimmunologic urticaria controls. No patient had a positive urticarial reaction to the potential dental allergens. Two patients with nonimmunologic urticaria to cinnamic aldehyde improved with avoidance. All patch tests were negative. In the six patients tested for pressure urticaria, the results were negative. CONCLUSION: We cannot indict contact dermatitis, contact urticaria, or pressure urticaria as a cause of the burning mouth syndrome in the denture-wearing patient who has a normal-appearing mucosa. The burning symptoms in this syndrome may be secondary to a simple frictional phenomenon of the denture on the mucosa.

Blood Cell Count↗
PubMed1991

Obligatory nasal breathing: effects on snoring and sleep apnoea.

OBJECTIVE: To test the effects on snoring and sleep disordered breathing of a dental prosthesis (Snore-No-More) which is designed to decrease snoring by preventing mouth breathing during sleep. DESIGN: A crossover controlled trial. Each subject was studied on two nights a week apart. There was a control (no treatment) night and an experimental (treatment) night. The order of control and experimental nights was randomised. SETTING: The Royal Adelaide Hospital Sleep Laboratory. PARTICIPANTS: Fourteen male volunteers (age range, 36-59 years) were studied. All had a history of chronic snoring but denied other symptoms of obstructive sleep apnoea syndrome. INTERVENTIONS: On experimental nights subjects wore the dental prosthesis for the whole study period. On control nights no device was worn. MAIN OUTCOME MEASURES: Studies were conducted overnight during the subject's normal sleep period. The following measurements were made: (i) frequency and loudness of snores; (ii) frequency of disordered breathing events (apnoeas and hypopnoeas); (iii) mean and minimum arterial oxygen saturation while asleep; and (iv) sleep stages. RESULTS: The dental prosthesis did not change the mean frequency or mean intensity of snores. The number of sleep disordered breathing events per hour of sleep decreased by approximately one-third on experimental nights (mean +/- SEM events/h: control, 24.7 +/- 5.3; experimental, 16.1 +/- 3.3, P less than 0.05). Neither sleep architecture nor arterial oxygen saturation differed between control and experimental nights. CONCLUSION: Snores using the dental prosthesis Snore-No-More to produce obligatory nasal breathing are unlikely to experience clinical benefit.

Adult↗
PubMed1991

Pyknodysostosis: an unusual presentation in a denture wearer. A case report.

Pyknodysostosis is a rare craniofacial syndrome characterized by cranial anomalies, dwarfism, osteopetrosis, hypoplasia of the angle of the mandible, abbreviated terminal phalanges, and dysodontiasis. The syndrome was first differentiated by Maroteaux and Lamy in 1962. Fewer than 130 cases have been described since that time. A 30-year-old Filipino man had most of the characteristics of the syndrome. Of particular interest is that he wore complete dentures and had a chief complaint of pain arising from partially erupting teeth under the denture. To our knowledge this is the first reported case from the Philippines.

Adult↗
PubMed1983

Superior limbic keratoconjunctivitis associated with cosmetic soft contact lens wear.

Thirteen patients who wore soft contact lenses were seen with a syndrome consistent with superior limbic keratoconjunctivitis. An irregular epithelial surface, punctate staining with fluorescein, and subepithelial infiltrates were found on the superior aspect of the corneas in association with hyperemia of the superior bulbar conjunctivae. The keratoconjunctivitis persisted as long as 15 months after discontinuation of lens wear. Patch testing with ophthalmic vehicle preservatives, performed on seven patients, failed to show a consistent hypersensitivity to any of the tested compounds, and three patients had used only preservative-free saline for lens care. The etiology of this syndrome is unknown.

Adolescent↗
PubMed1998

Evidence for autonomic nervous system imbalance in women with irritable bowel syndrome.

Autonomic nervous system function was assessed in women with and without irritable bowel syndrome using frequency domain measures of heart rate variability. Women were interviewed and placed into the irritable bowel syndrome (N = 25) group based on history of diagnosis and self-report of current gastrointestinal symptoms. Women in the control group denied a history of chronic gastrointestinal symptoms (N = 15). Women were followed for one menstrual cycle with a symptom diary, and during mid-luteal phase they wore a Holter 24-hr electrocardiograph monitor. Women with irritable bowel syndrome demonstrated significantly lower vagal tone as measured by the high frequency spectrum relative to control women. In addition, women with irritable bowel syndrome had a flattened 24-hr pattern of heart rate variability, with significantly lower levels of vagal tone during sleep. These results suggest that systemic sympathovagal balance may be shifted in a subset of women with irritable bowel syndrome.

Adult↗
PubMed1991

Castillo-Morales' orofacial therapy: treatment of 67 children with Down syndrome.

Infants with Down syndrome often present with a typical orofacial disorder, the features of which include hypotonicity of the perioral muscles, lips and chewing muscles, and a protruding tongue, later followed by active tongue protrusion, as well as problems with sucking, drooling, etc. This study presents the effects of Castillo-Morales' therapy with 67 Down syndrome children (average age at start of therapy 13.9 months), who wore the palatal plate intermittently for an average of 12.1 months. Significant positive results were obtained in spontaneous tongue position, upper and lower lip tonicity and position, mouth closure, drooling and sucking.

Child↗
PubMed1997

The pattern of splint usage in the management of two common temporomandibular disorders. Part II: The stabilisation splint in the treatment of pain dysfunction syndrome.

OBJECTIVE: To examine whether the stabilisation splint is a suitable treatment for pain dysfunction syndrome and to determine the most appropriate pattern of usage. DESIGN: Prospective random control clinical trial. SETTING: Dental school clinic unit. SUBJECTS: 70 patients diagnosed with pain dysfunction syndrome were treated with a stabilisation splint for 3 months. Group 1 (23 patients) wore the splint 24 hours/day. Group 2 (19 patients) wore the splint only during the day. Group 3 (28 patients) wore the splint only at night. RESULTS: There was no statistically significant advantage to any pattern of splint usage; all groups showed a marked improvement by subjective and objective assessment. CONCLUSIONS: Patients being treated for pain dysfunction syndrome by a stabilisation splint need wear the splint only at night.

Adolescent↗
PubMed2001

An innovative hand brace for carpal tunnel syndrome: a randomized controlled trial.

We developed a hand brace and studied its efficacy and tolerability in patients with carpal tunnel syndrome (CTS). We randomized 83 subjects into a treated group, which wore the hand brace at night for 4 weeks, and a control group, which received no treatment. The primary efficacy measure was change in the Boston Carpal Tunnel Questionnaire (BCTQ) score. Secondary measures were Subjects' Global Impression of Change Questionnaire (SGICQ), median distal motor latency, sensory conduction velocity and amplitude, and neurophysiological class of severity. The treated group showed a reduction in BCTQ symptomatic score (from 2.75 to 1.54 at 4 weeks; P < 0.001) and functional score (from 1.89 to 1.48; P < 0.001). There were no significant changes in the control subjects. SGICQ documented improvement in all treated subjects (P = 0.006). No significant difference was found in electrophysiological measurements, but overall neurophysiological classification shifted to less severe classes in the treated group (P < 0.05). Thus, the study demonstrates that this hand brace is highly efficient in relieving symptoms and functional loss in CTS.

Action Potentials↗
PubMed1997

Self-reported exposure to neurotoxic chemical combinations in the Gulf War. A cross-sectional epidemiologic study.

OBJECTIVE: To identify risk factors of factor analysis-derived Gulf War-related syndromes. DESIGN: A cross-sectional survey. PARTICIPANTS: A total of 249 Gulf War veterans from the Twenty-fourth Reserve Naval Mobile Construction Battalion. DATA COLLECTION: Participants completed standardized booklets measuring self-reported wartime exposures and present symptoms. MAIN OUTCOME MEASURES: Associations of factor analysis-derived syndromes with risk factors for chemical interactions that inhibit butyrylcholinesterase and neuropathy target esterase. RESULTS: Risk of syndrome 1 ("impaired cognition") was greater in veterans who reported wearing flea collars during the war (5 of 20, 25%) than in those who never wore them (7 of 229, 3%; relative risk [RR], 8.7; 95% confidence interval [CI], 3.0-24.7; P<.001). Risk of syndrome 2 ("confusion-ataxia") increased with a scale of advanced adverse effects from pyridostigmine bromide (chi2 for trend, P<.001), was greater among veterans who believed they had been involved in chemical weapons exposure (18 of 108, 17%) than in those who did not (3 of 141, 2%; RR, 7.8; 95% CI, 2.3-25.9; P<.001), and was increased in veterans who had been in a sector of far northeastern Saudi Arabia on the fourth day of the air war (6 of 21, 29%) than in those who had not been (15 of 228, 7%; RR, 4.3; 95% CI, 1.9-10.0; P=.004). Effects of perceived chemical weapons exposure and advanced adverse effects from pyridostigmine were synergistic (Rothman S, 5.3; 95% CI, 1.04-26.7). Risk of syndrome 3 ("arthro-myo-neuropathy") increased with an index of frequency and amount of government-issued insect repellent containing 75% DEET (N,N-diethyl-m-toluamide) in ethanol applied during the war (chi2 for trend, P<.001) and with advanced adverse effects from pyridostigmine (chi2 for trend, P<.001). CONCLUSION: Some Gulf War veterans may have delayed, chronic neurotoxic syndromes from wartime exposure to combinations of chemicals that inhibit butyrylcholinesterase and neuropathy target esterase.

Adult↗
PubMed1977

Hearing patterns in Morquio's syndrome (mucopolysaccharidosis IV).

The hearing status of 18 patients with Morquio's syndrome (mucopolysaccharidosis IV) was evaluated. All three patients under age 8 years had a conductive hearing loss. Fourteen of 15 patients 8 years of age and older had a mixed or sensorineural hearing loss; one had normal hearing. Six patients wore hearing aids. By the end of the first decade of life, most persons with Morquio's syndrome may be expected to have either a mixed or sensorineural hearing loss. Amplification may be required.

Adolescent↗
PubMedDate not supplied

Psychosocial development and corrective shoewear use in childhood.

To assess the short- and long-term psychosocial effects of wearing modified shoes during childhood, we compared measures of self-esteem and self-image of 46 adults who wore shoe modifications during childhood with 92 adult controls. The treated cases characterized their remembrance of the experience through a subjective report questionnaire. Those who wore shoe modifications during childhood showed lower self-esteem than controls (p < 0.05). In addition, the treated recalled a decrease in their self-image (41%), the experience as negative (57%), being teased about their footwear (47%), and having their activities limited (41%). These findings show that wearing shoe modifications during childhood, in addition to being ineffective and unnecessary as demonstrated in prior studies, is a negative experience in childhood and is associated with lower self-esteem in adult life. Such data suggest that children who wore modified footwear may fall into the spectrum of the vulnerable child syndrome.

Adolescent↗
PubMedDate not supplied

Sinus tarsi denervation: clinical results.

Traumatic neuroma of the branches of the deep peroneal nerve that innervate the sinus tarsi can be the source of recalcitrant lateral ankle pain. That these nerves can be the source of the pain can be demonstrated by nerve blocks, and this pain can be surgically treated by resection of the appropriate branch of the deep peroneal nerve. This article documents the clinical results of this approach in 13 patients with sinus tarsi syndrome. At a minimum of 6 months postoperatively, 10 patients (77%) were completely pain-free, wore normal shoes, and had returned to work. Two patients (15%) had a small degree of residual pain but resumed usual activities and wore normal footwear. One patient had some pain relief but could not resume usual activities. We conclude that denervation of the sinus tarsi can relieve recalcitrant pain emanating from the sinus tarsi. This approach may reduce the need for subtalar fusion or evacuation procedures, including arthroereisis, thus avoiding their potential complications. Moreover, sinus tarsi denervation may allow the continued use of an arthroereisis implant in the presence of satisfactory objective findings, despite the subjective presence of postoperative pain.

Adult↗
PubMed1997

A preliminary assessment of intra-oral lubricating systems for dry mouth patients.

OBJECTIVE: To provide extended intra-oral delivery of a saliva substitute. INTERVENTION: Three different types of prostheses containing saliva substitute were designed and assessed: a two-part device resembling a mandibular complete denture sealed by cobalt-samerium magnets, a one-part clear resin device for the edentate patients and a flexible mouth guard type of appliance containing a lubricant releasing bubble for the dentate patients. SETTING: A teaching hospital Oral Medicine and Rheumatology Clinic. SUBJECTS: 8 edentate and 3 dentate Sjogren Syndrome sufferers. OUTCOME MEASURES: Subjective dryness after a week of wearing the lubricating appliance. RESULTS: The majority of the subjects wore the appliances for 6-12 hours during each 24 hours. The initial dryness severity diminished after wearing the lubricating prosthesis. The patients preferred to wear the appliance at night. CONCLUSION: All criteria were fulfilled on designing a saliva substitute lubricating appliance and some of the subjects have worn this prosthesis successfully for up to 3 years. Particular benefit was obtained by night-time wear.

Aged↗
PubMed2001

The effect of foot orthoses on standing foot posture and gait of young children with Down syndrome.

The purpose of this study was to determine if foot orthoses (FOs) immediately affected gait of children with Down Syndrome (DS) and excessively pronated feet. Subjects were 3--6 years old; 16 with DS and 10 without disabilities. Gait of children with DS wearing sneakers was compared with and without FOs and compared to gait of children without disabilities. Ankle moment, walking speed during stance phase, sneaker prints, center of pressure, and transverse plane foot angles were collected and compared. In standing, heel eversion was reduced when the children wore FOs (p=0.000). During gait the transverse plane foot angle decreased indicating more internal rotation with FOs (p=0.000). Trial-to-trial variability of pronation-supination index (p=0.0001), foot length contact (p=0.0001), transverse plane foot angle (p=0.0003), and walking speed (p=0.0001) all decreased with FO use. Trial-to-trial variability of normalized peak ankle moment (p=0.0001), and of phase of peak ankle moment (p=0.0001) increased when the children wore FOs.

Child↗