bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lipid‐storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late‐onset multiple acyl‐CoA dehydrogenation deficiency
Authors: Olsen R. K. J. , Pourfarzam M. , Morris A. A. M. , Dias R. C. , Knudsen I. , Andresen B. S. , Gregersen N. , Olpin S. E. 
Published: September 2004

AbstractSummary: We report a patient with lipid‐storage myopathy due to multiple acyl‐CoA dehydrogenation deficiency (MADD). Molecular genetic analysis showed that she was compound heterozygous for mutations in the gene for electron transfer flavoprotein:ubiquinone oxidoreductase (ETFQO). Despite a good initial response to treatment, she developed respiratory insufficiency at age 14 years and has required long‐term overnight ventilation. Thus, MADD is one of the few conditions that can cause a myopathy with weakness of the respiratory muscles out of proportion to the limb muscles.
Allelic heterogeneity of glycogen storage disease type Ib in French patients: A study of 11 cases
Authors: Trioche P. , Petit F. , Francoual J. , Gajdos V. , Capel L. , Poüs C. , Labrune P. 
Published: September 2004

AbstractSummary: Eleven patients with glycogen storage disease type Ib (GSD Ib) were studied. Using a combination of single‐strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 21/22 mutant alleles comprising 12 different mutations in the glucose‐6‐phosphate translocase gene (G6PT). Among these, one is a novel mutation of G6PT: 855T>;C (L229P).
Diagnostic and treatment challenges of neuronopathic Gaucher disease: Two caseswith an intermediate phenotype
Authors: Hanna R. , McDonald M. T. , Sullivan J. A. , Mackey J. F. , Krishnamurthy V. , Kishnani P. S. 
Published: September 2004

AbstractSummary: Gaucher disease (GD) is a lysosomal storage disorder with a broad, overlapping clinical spectrum. The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling.
Diagnosis and Management of Post‐Traumatic Vertigo
Authors: Marzo Sam J. , Leonetti John P. , Raffin Michael J. , Letarte Peter 
Published: September 2004

AbstractObjectives/Hypothesis: Patients with post‐traumatic vertigo can be difficult to treat secondary to the chronicity of their symptoms. Patients can have peripheral, central, and combined vestibular deficits. Furthermore, no comprehensive guidelines exist for returning these patients to work. The objectives of the study were to discuss diagnosis, management techniques, and guidelines for returning these patients to work.Study Design: Retrospective analysis of a tertiary referral neurotology and balance clinic.Methods: Between July 1997 and July 2003, 2390 patients with chief complaints of vertigo and/or dizziness were analyzed. Of these, 16 patients met the requirements for inclusion in the study, including head trauma and/or concussion and residual vertigo. Their inpatient and outpatient charts, imaging studies, audiograms, vestibular tests, and physical therapy evaluations were reviewed. All patients had at least 6 months of follow‐up.Results: There were 5 women and 11 men, with an average age of 42 years. Five patients had symptoms consistent with traumatic perilymphatic fistulas, and two patients had symptoms consistent with post‐traumatic Meniere's syndrome. Surgical therapy was not beneficial in relieving dysequilibrium. Balance testing results did not predict return‐to‐work status. Eleven patients were not allowed to return to work in any capacity, two patients were allowed to return to work with limited duties, and three patients were allowed to return to work with no restrictions.Conclusion: Post‐traumatic vertigo can result in chronic symptoms. Balance testing did not predict the ability of patients to return to work. Surgical intervention might not control patient symptoms. Many patients were unable to return to work.
Wegener's Granulomatosis Presenting as Unilateral Parotid Enlargement
Authors: Chegar Burke E. , Kelley Richard T. 
Published: September 2004

AbstractObjective: Major salivary gland enlargement is a rare presenting symptom of Wegener's granulomatosis. The unrecognized occurrence of this entity can delay diagnosis, leading to increased morbidity from disease progression. This report discusses the clinical features and diagnostic testing of salivary gland enlargement secondary to Wegener's granulomatosis to differentiate it from other, more common, salivary gland diseases.Study Design: A case report of a single subject with unilateral parotid gland enlargement secondary to Wegener's granulomatosis.Methods: A review of the clinical course, diagnostic studies, and histopathology related to the presenting disease.Results: A 54‐year‐old male was evaluated for a 6‐week history of progressive right parotid enlargement and pain unresponsive to antimicrobial therapy. Computed tomography scans showed diffuse, unilateral parotid swelling without enhancement and without a mass lesion or sialolith. Multiple open biopsies from the gland were necessary to demonstrate the presence of necrotizing granulomatous inflammation with vasculitis. Elevated antineutrophil cytoplasmic autoantibody, cytoplasmic pattern (c‐ANCA) titers confirmed Wegener's granulomatosis. Hemoptysis and acute renal failure requiring hemodialysis developed shortly after diagnosis but eventually resolved after the initiation of corticosteroids and cyclophosphamide.Conclusions: Unilateral parotid enlargement is a rare presentation of Wegener's granulomatosis. A high level of clinical suspicion should prompt biopsy and testing of c‐ANCA when initial studies or empirical treatment fails to lead to a proper diagnosis. Early treatment may prevent the development of other serious systemic complications such as renal failure.
Role of Intrathyroidal Calcifications Detected on Ultrasound as a Marker of Malignancy
Authors: Seiberling Kristin A. , Dutra Jose C. , Grant Tom , Bajramovic Sanija 
Published: September 2004

AbstractObjectives: Clinically palpable thyroid nodules are present in between 4% and 7% of the population, with only a small percentage of those harboring malignancy. Thus, it is important to find a cost‐effective way to determine which nodules are more likely to be malignant. The purpose of this study was to evaluate the use of intrathyroidal calcifications detected on ultrasound as a risk factor for malignancy.Study Design: Retrospective chart review.Methods: One hundred fifty‐nine patients with thyroid disease were included in this study. Patients were selected from a thyroid ultrasound (TUS) database. Charts were then reviewed, and only those patients who had a preoperative TUS and underwent surgery for tissue diagnosis were included.Results: Of the 159 patients, 66 (41.5%) were diagnosed with cancer. Of those with malignancy, 52 (78.8%) had calcifications noted on TUS. Ninety‐three of the patients were diagnosed with benign pathology. Of those 93 patients, 36 (38.7%) had TUS findings consistent with calcifications, whereas 57 (61.3%) did not. Statistical analysis using a chi‐square test showed a strong association between cancer status and calcification, with P < .001. In our study, calcifications on TUS had a sensitivity of 78.8% and a specificity of 61.3%, with an odds ratio of 5.88.Conclusion: The presence of calcifications detected on TUS should alert the physician for the possibility of malignancy, and further work‐up should be pursued. This information may be used to improve the sensitivity of other diagnostic tests such as fine needle aspiration biopsies. Given the relatively low sensitivity and specificity of the test, its use alone as a marker of malignancy is limited, but it may be used in combination with other known risk factors and tests to decide on the most appropriate treatment plan.
Malignant Odontogenic Tumors: A 22‐Year Experience
Authors: Goldenberg David , Sciubba James , Koch Wayne , Tufano Ralph P. 
Published: September 2004

AbstractObjectives/Hypothesis: Malignant odontogenic tumors are exceedingly rare and arise from odontogenic epithelial residues and odontogenic cysts in the jaw bones. Odontogenic malignancies have various origins. Some develop directly from the remnants of odontogenic epithelium left after completion of dental development; others may result from malignant transformation of a benign odontogenic cyst or ameloblastoma. These lesions are usually locally aggressive with radical surgery being the primary mode of treatment. Because of their rarity, much of the existing information about malignant odontogenic tumors with regard to their origin, clinicopathological features, biological behavior, and therapeutics is derived from case reports or small series. The study represents one of the largest series of malignant odontogenic tumors compiled in a single institution.Study Design: Retrospective 22‐year review from an Academic Medical Center.Methods: Twenty cases of reported malignant odontogenic tumors were diagnosed in the authors' institution between 1981 and 2002. All pathological slides were reviewed to reconfirm diagnosis. Malignancy was confirmed based on the following criteria: histological findings of infiltrative growth, atypical cytological features, and focal necrosis or clear evidence of distant metastatic spread. Patient age, race, sex, treatment and outcome were recorded on chart review.Results: Of the twenty reported cases, only nine were actually found to be malignant tumors on re‐evaluation. These consisted of four cases of malignant ameloblastomas, two cases of ameloblastic carcinoma, one case of malignant Pindborg tumor (calcifying epithelial odontogenic tumor), one case of odontogenic ghost cell carcinoma, and one case of squamous cell carcinoma arising in an odontogenic keratocyst. The racial demographics were six Caucasian patients, one African American patient, and two Asian patients; seven men and two women represented the gender distribution. Tumors of six cases were located in the mandible, and of three cases, in the maxilla. All cases were treated with radical surgical excision. Two patients died of their disease, three patients were alive and free of disease, and four patients were lost to follow‐up.Conclusion: Malignant odontogenic tumors are rare. They require a multidisciplinary team to determine proper treatment. Long‐term surveillance is mandatory and is accomplished by routine physical examinations, along with serial radiographic imaging.
Quality and Safety in a Complex World: Why Systems Science Matters to Otolaryngologists
Authors: Roberson David W. , Kentala Erna , Healy Gerald B. 
Published: September 2004

AbstractAlmost all modern medical care is delivered in the setting of many overlapping systems. Each system may consist of multiple providers and in most cases electronic and mechanical components. Even “simple” outpatient care is delivered by teams of providers, administrators, and devices. Critically ill inpatients are cared for in extraordinarily complex systems with hundreds of human and non‐human elements. The science of complex systems has exploded in recent decades, and there is a large body of knowledge about how such systems function effectively or ineffectively. Many principles of systems science are simple to understand and apply, but few Otolaryngologists are well educated about them. A basic knowledge of systems science will greatly improve the Otolaryngologist's ability to function in complex health care systems and to provide the best care for his or her patients.
Stress as a Trigger of Attacks in Menière's Disease. A Case‐Crossover Study
Authors: Söderman Anne‐Charlotte Hessén , Möller Jette , Bagger‐Sjöbäck Dan , Bergenius Johan , Hallqvist Johan 
Published: September 2004

AbstractBackground: Menière's disease is defined as the presence of recurrent, spontaneous episodic vertigo, hearing loss (HL), aural fullness, and tinnitus. The occurrence of attacks is unpredictable. The etiology is still unknown, but the disease has a pathologic correlate in hydropic distension of the endolymphatic system. Earlier studies have shown increased incidence of stress on the same day as vertigo attacks, but it has not been determined whether stress occurring on the day of the vertiginous episode came before or after the onset of the vertigo.Methods: A case‐crossover study including 46 patients with active Menière's disease.Main Outcome Measure: Relative risks with 95% confidence intervals (CI).Findings: During the study period, 153 Menière's attacks were reported. Twenty‐four (52%) of the 46 patients reported attacks. Twelve of the 153 (8%) attacks occurred within 3 hours after exposure to emotional stress. The relative risk of having an attack was 5.10 (95% CI 2.37–10.98) during 3 hours after being exposed to emotional stress. Twenty‐nine percent of the patients with attacks had at least one attack after exposure to emotional stress. For mental stress, the relative risk was 4.16 (95% CI 1.46–11.83) and the hazard period 1 hour, but only five attacks were exposed. No excess risk was found after physical stress.Interpretation: Being exposed to emotional stress increases the risk of getting an attack of Menière's disease during the next hour, and the hazard period is possibly extended up to 3 hours.
Reduction of Salivary Flow With Botulinum Toxin: Extended Report on 33 Patients with Drooling, Salivary Fistulas, and Sialadenitis
Authors: Ellies Maik , Gottstein Ulrike , Rohrbach‐Volland Saskia , Arglebe Christian , Laskawi Rainer 
Published: September 2004

AbstractObjectives/Hypothesis: The aim of the study was the evaluation of the clinical data of 33 patients who had had drooling attributable to various diseases, salivary fistulas, and sialadenitis and had been treated with injection of botulinum toxin type A (Botox). A controlled follow‐up study documenting efficiency, possible side effects, and duration of the effect of treatment was also performed.Study Design: Retrospective clinical evaluation.Methods: Thirty‐three patients with drooling attributable to head and neck carcinoma, neurodegenerative diseases, stroke, or idiopathic hypersalivation or with salivary fistula or chronic sialadenitis received injections of 20 to 65 U botulinum toxin type A into salivary glands under sonographic control. The entire salivary flow rate and the output per minute of the salivary analytes thiocyanate, total protein, α‐amylase, acid phosphatase, kallikrein, and immunoglobulin A were measured at various times before and after injection. The patients were examined with regard to severity of their symptoms, including sonographic control investigation of their cephalic salivary glands.Results: Twenty‐six patients (79% of all patients) reported a distinct improvement of their symptoms after toxin injection. Seven patients noted a return of high salivation rates and requested a second injection after 4 to 7 months. Duration of toxin effect varied widely among individuals. In general, salivary flow rates and thiocyanate output dropped sharply within 1 week after injection and had increased again after a period of 12 to 16 weeks. Conversely, amylase outputs increased during this period, whereas the outputs of the other analytes remained roughly constant. Sonography did not reveal any major changes in salivary gland parenchyma, and side effects were not noted.Conclusion: Reduction of salivary flow in patients with drooling, salivary fistulas, or chronic sialadenitis by local injection of botulinum toxin type A into the salivary glands proved to be a dependable therapy for these disorders, as shown in the present extended report on 33 patients. Side effects were not observed. The effect of toxin application lasted for approximately 3 months. Based on their results, the authors recommend botulinum toxin injection as the therapy of choice in patients with the problem of drooling.
A new retropubic suspension operation technique for transvaginal Burch operation, using newly developed equipment
Authors: Çapar Metin 
Published: September 2004

Background.  Genuine stress urinary incontinence is a very common pathologic condition among women. In order to operate this, different techniques have been introduced. Here, a new technique is described for the operation of genuine stress urinary incontinence with newly developed equipment. The present technique offers more advantages than previous techniques introduced by different authors. With this technique, the duration of operation and of the recovery period are both shorter than with previous techniques. All patients had symptoms and signs of stress urinary loss. We performed multichannel cystometry preoperatively to all patients.Method.  A special valve is used with reflector having 97% reflection capacity for transvaginal burch operation technique. Twenty five women (n = 25) having genuine stress urinary incontinence were taken under transvaginal Burch bladder neck suspension operation with fixation of suspension sutures to the Cooper (iliopectineal) ligament.Results.  Following urodynamic workup 6 months after the surgery, one out of the 25 patients (4%) was diagnosed to have genuine stress incontinence, while one patient (4%) were diagnosed as having urinary stress incontinence and detrussor instability. One patient was found to be wet postoperatively due to only detrussor instability (4%). There were no significant differences pre‐ and postoperatively regarding capacity, residual volume, pressure rise on filling or standing, or maximal voiding pressure or peak flow rate.
Is stress urinary incontinence a familial condition?
Authors: Ertunc Devrim , Tok Ekrem C. , Pata Ozlem , Dilek Umut , Ozdemir Gulay , Dilek Saffet 
Published: September 2004

Background.  Stress urinary incontinence (SUI) is a common problem of multifactorial origin. Some authors have claimed that it has a familial predisposition. This study was undertaken to investigate the prevalence of SUI among first‐degree relatives of 154 women who had been operated on for this disorder and of 100 women without SUI.Methods.  This report is concerned with a questionnaire‐based, case‐control study. A total of 154 women who had undergone operations for SUI and 100 women who denied having SUI were included. A comparison was made of 413 first‐degree relatives of incontinent women and 372 first‐degree relatives of continent women according to the demographic characteristics, obstetric and gynecologic history and risk factors for SUI. The prevalence of SUI was investigated among the relatives. Furthermore, the characteristics of the women who had SUI operation were compared according to the continence state of their families.Results.  The prevalence of SUI was 71.4% among mothers and 24.6% among sisters of operated women compared with 40.3% among mothers and 11.6% among sisters of continent women (p < 0.05). Furthermore, the age at which symptoms began was significantly lower in the members of the ‘incontinent families’ (p < 0.001).Conclusions.  The relatives of incontinent women displayed a higher prevalence of SUI than the relatives of continent women. Although this condition has a multifactorial origin, the familial aggregation of SUI and the appearance of symptoms at younger ages in women with a family history of SUI suggest that heredity may play a significant role.
Tension free vaginal tape: a procedure for all ages
Authors: Allahdin Sabeena , McKinley Carolyn A. , Mahmood Tahir A. 
Published: September 2004

Objective.  To assess the success and complications of the tension free vaginal tape (TVT) procedure in different age groups.Patients and methods.  This prospective long‐term study of 179 consecutive cases of urodynamically confirmed urinary incontinence that had had the TVT procedure was conducted from March 1999 to December 2002 at a District General Hospital. To assess whether outcome was influenced by the patient's age, the patients were divided into three age groups: group A (30–49 years old), group B (50–69 years old) and group C (70–90 years old). Operative details and early and late complications were recorded, and patients were followed up with clinic visits at 6 weeks and 6 months and a quality of life questionnaire was completed at 1 year.Results.  Of the 179 patients included in the study, 53 (29.6%) were in group A, 91 (50.8%) in group B and 35 (19.5%) in group C. The subjective cure rate for the patients was 84.9%, 81.3% and 85.3% in groups A, B and C, respectively. A significant improvement in symptoms was reported by 3.8%, 14.3% and 8.6% women, respectively. The failure rate was 11.3%, 4.4% and 5.7%, respectively. The intraoperative complication rate was 5.6%. The overall postoperative complication rate was 29.6%. A total of 86.2% of the patients were treated as day cases. Patients who had intraoperative complications or initial voiding difficulties (i.e. those patients requiring “in/out” catheterization before spontaneous voiding was established) were in hospital for 1–2 days.Conclusions.  Our data showed better subjective cure rates and substantial improvement rates without any significant increase in intraoperative complications with increasing age. Postoperative complications of urgency and vaginal wall erosion were more common in the older aged patients but were easily resolved. Hospital stay and recovery period were short, making TVT a suitable procedure for all ages.
Reproducibility and validity of simple questions to identify urinary incontinence in elderly women
Authors: Rohr Gitte , Christensen Kaare , Ulstrup Kirsten , Kragstrup Jakob 
Published: September 2004

Background.  Epidemiologic studies are dependent on simple and valid questions to assess the prevalence and type of urinary incontinence.Objective.  To examine the reproducibility and validity of two standardized questions seeking to identify stress and urge incontinence among elderly women.Methods.  A random sample of 421 women 75 years or older living in the center of Odense, Denmark, were invited to participate, and 223 (53%) accepted a first interview in their home. A sample of 154 women were selected for a second interview with the same questions [accepted by 144 (94%)]. The second visit also included a long open interview about incontinence and was followed by a prospective registration of leakages.Results.  In the first interview 39% (95% confidence interval (CI) 34–47%) of the elderly women reported incontinence. The reliability of the questions was acceptable [kappa of 0.81 (95% CI 0.34–0.89)] with percent agreement of 90% (95% CI 84–95%) between first and second interviews for all incontinence (stress and/or urge). When the open interview was used as a “gold standard,” the questions showed acceptable validity: a sensitivity of 0.91 (95% CI 0.86–0.96) and a specificity of 0.86 (95% CI 0.80–0.92) for all incontinence.Conclusion.  Standardized questions about incontinence give reproducible answers and produce information that is comparable to a long open interview.