Cases reported "Chronic Disease"

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1/63. prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus.

    Severe type I plasminogen deficiency may cause severe ligneous conjunctivitis, a rare and unusual form of chronic pseudo-membranous conjunctivitis that usually starts in early infancy, but also pseudo-membranous lesions of other mucous membranes in the mouth, nasopharynx, trachea and female genital tract, and in rare cases congenital occlusive hydrocephalus. The index patient, the daughter of a consanguineous marriage, had suffered from severe ligneous conjunctivitis and had died from decompensated congenital hydrocephalus despite numerous shunt revisions. She was found to be homozygous for a non-sense mutation in exon 15 of the plasminogen gene (Trp597->Stop). In her next pregnancy, the mother asked for prenatal diagnosis of the plasminogen deficiency. Chorionic villus biopsy was performed at 12 weeks of gestation. dna analysis of the plasminogen gene by PCR and single-strand conformation polymorphism (SSCP) revealed that the fetus exhibited an identical heterozygous band pattern as observed in the healthy mother. Therefore, the fetus was heterozygous for the Trp597->Stop mutation in plasminogen exon 15. In addition, the fetus was found to be male by cytogenetic analysis and by multiplex PCR analysis using two polymorphic X-chromosomal markers (DXS424, HPRT). These findings excluded the possibility of contamination by maternal dna. It was concluded that the fetus was not at risk for ligneous conjunctivitis and its associated complications. After the birth of a healthy boy, plasminogen functional activity was shown to be 38 per cent. dna analysis confirmed prenatal molecular genetic results.
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2/63. Hyperaeration of the sphenoid sinus: cause for concern?

    A case of exuberant pneumatization of the left sphenoid sinus into the pterygoid process and floor of the middle cranial fossa is presented. The fact that pneumatization of the sphenoid sinus is frequently atypical is of clinical import because there is an intimate relationship between the contents of a hyperaerated sinus and adjacent vital facial and cranial structures. It is imperative that clinicians determine the location and extent of the walls of the sphenoid sinus and its relationship to adjacent vital structures whenever endoscopic sinus surgery is contemplated to avoid morbid consequences during surgery.
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3/63. skull base reconstruction utilizing titanium mesh in chronic CSF leakage repair.

    OBJECTIVE AND IMPORTANCE: Chronic cerebrospinal fluid leakage is a perplexing management problem in skull base surgery, as well as craniofacial and certain otolaryngologic procedures. When all less invasive techniques have been tried and have failed, craniotomy for direct repair is often done. CLINICAL PRESENTATION: This case represents one such case in which the pathology found required an unusual application of a common surgical adjunct for correction. The patient in question had experienced CSF rhinorrhea intermittently for 10 years prior to presentation. Several intracranial procedures had failed to curtail the rhinorrhea, after failure of lumbar drainage and other less invasive procedures had also failed. The patient was taken to surgery again for an attempt to directly correct the CSF leak, after demonstration of the location of the leak was accomplished with the assistance of contrasted coronal CT images of the anterior fossa. TECHNIQUE: At the time of surgery, comminuted fractures of the floor of the anterior fossa were noted. These fractures were associated with multiple sites of dural impingement. Following meticulous repair of all dural injuries, reconstruction of the floor of the anterior fossa was accomplished with the use of titanium micro mesh. The mesh placement isolated the dura from further contact with the fracture surfaces, preventing recurrent dural injury. CONCLUSION: The use of titanium mesh in skull base surgery has previously been reported in craniofacial and cranial vault procedures. Its use in skull base applications may prove useful in certain situations. This patient remains asymptomatic nearly 2 years after its use, longer than with any previous procedures to correct his chronic CSF leakage.
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4/63. Asymptomatic enophthalmos: the silent sinus syndrome.

    Although uncommon, enophthalmos may be a presenting symptom of chronic maxillary sinusitis with secondary attentuation of the orbital floor. As such, as awareness of this entity, known as the "silent sinus syndrome," is important to all practising otolaryngologists. Two such cases are presented herein, together with a discussion of the pathophysiology, management, and current literature.
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5/63. Complete dentures and the associated soft tissues.

    Some of the conditions of the soft tissues related to complete dentures encountered during a period of 25 years at a university clinic were presented and discussed from the standpoint of the clinical prosthodontist. During this time, over 1,000 denture patients were treated each year. For some conditions, a method of management was offered with treatment by sound prosthodontic principles rather than unneccessary medication. That denture fabrication involves much more than mere mechanical procedures is an understatement. Complete dentures are foreign objects in the oral cavity that are accepted and tolerated by the tissue to a degree that is surprising. As prosthodontists, we can gain satisfaction from the realization that the incidence of oral cancer due to dentures is less than extremely low. At the same time, we must be ever mindful of the statement by Sheppard and associates. "Complete dentures are not the innocuous devices we often think they are." Every dentist must remember that one of his greatest missions is to serve as a detection agency for cancer. The information discussed indicates (1) the need for careful examination of the mouth, (2) the value of a rest period of 8 hours every day for the supporting tissues, and (3) the importance of regular recall visits for denture patients. Robinson stated that while the dental laboratory technician can be trained to aid the dentist in the fabrication of prosthetic devices, his lack of knowledge of reactions and diseases of the oral tissues limits him to an auxiliary role. Complete prosthodontics is a highly specialized health service that greatly affects the health, welfare, and well-being of the patient. It can be rendered only by the true professional who is educated in the biomedical sciences.
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6/63. Chronic ulcerative stomatitis: a case report.

    BACKGROUND: Certain mucocutaneous diseases present with painful, ulcerative, or erosive oral manifestations. Chronic ulcerative stomatitis is a newly recognized disease of unknown origin which presents clinically with features of desquamative gingivitis. This report marks only the thirteenth case reported in the world literature. A review of previous reports and studies is presented along with a review of immunofluorescence techniques critical to proper diagnosis. These diseases are difficult to diagnose without the use of immunofluorescence techniques. A 54-year-old Caucasian woman presented with a 2- to 3-year history of stomatitis and dry mouth. methods: Direct immunofluorescence revealed a speckled pattern of IgG deposits in the basal one-third of the epithelium, while indirect immunofluorescence confirmed the presence of stratified epithelium-specific antinuclear antigen (SES-ANA), both pathognomonic for chronic ulcerative stomatitis. RESULTS: The patient was successfully treated using topical corticosteroid therapy.
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7/63. Chronic oral mucosal ulceration in a 54-year-old female.

    pemphigus vulgaris most often begins in the mouth but is often overlooked in the differential diagnosis of chronic, multiple oral ulcerations and erosions. Accurate diagnosis requires perilesional biopsy including intact epithelium, submitted for hematoxylin and eosin as well as direct immunofluorescence staining. Early and aggressive treatment with moderate to high dose prednisone in combination with steroid sparing drugs such as azathioprine and mycophenolate allow complete remission in most patients.
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8/63. Respiratory failure. After the intensive care unit.

    RF is a unique situation. It is specific in diagnosis and yet, at the same time, broad in concept. It can be acutely life threatening or chronic in presentation and need for intervention. patients are cared for in ICUs, medical-surgical floors, and nursing homes as well as at home. When RF is a complicating condition of an already hospitalized patient, the road to recovery may be long and complicated. It is important that the health care team provides education and counseling so that the patient and family can cope with the changing events and the potentially long road to recovery. Outcome data from all the sites of care are currently lacking for a comparative analysis of the most effective site. All the sites of care discussed in this article are cost-effective alternatives to the ICU, but there is a lack of standards and evidence of measurable outcomes such as the quality and cost relationship. Outcome data are needed to document the cost of care and the relationship of that cost to specific outcomes such as final discharge disposition, survival, complications, and quality of life. health care provides have a much clearer image of the care that can be provided in the multiple sites available. Unfortunately, patients and families do not have that same level of understanding. For many patients and families, regardless of what the facility is called, it is not the acute hospital, and that is where they wish to remain until discharge home. Clarification and standardization are needed regarding the terminology used to describe the various sites of care. It is important that integrated health care institutions provide education and counseling to patients and families regarding the continuum of care and the many alternatives along that path.
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9/63. Treating aerophagia with contingent physical guidance.

    Contingent physical guidance was used to treat chronic aerophagia. This consisted of guiding the participant's hand over her mouth following each attempt to engage in aerophagia. A wristwatch was then correlated with the contingent physical guidance procedure. Responding remained low in the presence of the wristwatch, even after contingent physical guidance was withdrawn.
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10/63. dysarthria as the isolated clinical symptom of borreliosis--a case report.

    This report presents a case of dysarthria due to hypoglossal nerve mono-neuropathy as the only consequence of neuroborreliosis. The 65-year-old man with a seven-months history of articulation disturbances was examined. The speech of the patient was slow and laboured. A slight weakness of the muscles of the tongue (left-side) was observed. The patient suffered from meningitis due to borrelia burgdorferi infection in 1999 and initially underwent a successful antibiotic treatment. Detailed radiological investigation and psychological tests were performed and co-existing neurological diseases were excluded. To describe profile of speech abnormalities the dysarthria scale was designed based on S. J. Robertson dysarthria Profile. There were a few disturbances found in self-assessment of speech, intelligibility, articulation, and prosody but especially in the morphology of the articulation muscles, diadochokinesis, the reflexes (in the mouth, larynx and pharynx). Needle EMG examination confirmed the diagnosis of mono-neuropathy of left hypoglossal nerve. The study confirms the fact that neuroborreliosis may evoke chronic consequences.
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