Cases reported "Disease Progression"

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1/45. Clinical presentation and types of Dupuytren's disease.

    The clinical presentation of Dupuytren's disease is discussed with emphasis on dermato-pathology, the nodule, the cord, ectopic manifestations regional and distant, and disease progression. The differential diagnosis also is described with a list of pseudo-Dupuytren's disease cases. Observations by this author suggest that there are two distinct clinical entities responsible for palmar fascial contracture, namely typical Dupuytren's disease and atypical Dupuytren's contracture. These two types seem to differ in presentation, treatment, and prognosis. The characteristic clinical findings of each of these two types are described. The disparity among treatment outcome studies and epidemiologic studies with regard to the prevalence of Dupuytren's disease is probably in part due to lack of distinction between these two clinical types. Accurate diagnosis and satisfactory treatment outcome can be achieved by careful history, thorough physical examination, and keen understanding of the pathophysiology of this enigmatic disease.
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2/45. Spinal deformity after selective dorsal rhizotomy in patients with cerebral palsy.

    Selective dorsal rhizotomy is used widely as a means of treating spasticity associated with cerebral palsy. Little is known regarding the effect of the procedure on the development or progression of spinal deformity. The authors reviewed six patients with progressive deformity after rhizotomy. Prerhizotomy and postrhizotomy records of physical examinations and radiographs were reviewed retrospectively in an attempt to identify risk factors for development of and/or rapid progression of, spinal deformity. Detailed preoperative and postoperative evaluation of spinal alignment should be undertaken, particularly in those patients who may be at risk of rapidly progressive deformity.
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3/45. Persistent cough in an adolescent.

    Jessica, a 14-year-old girl with a history of asthma, went to her pediatrician's office because of a persistent cough. She had been coughing for at least 3 months with occasional cough-free periods of less than a few days. The cough was nonproductive and was not accompanied by fever, rhinorrhea, or facial or chest pain. Jessica and her mother observed that the cough increased with exercise and typically was not present during sleep. She has used two metered-dose inhalers--albuterol and cromolyn--without any change in the cough pattern. For the past 5 years, Jessica has had mild asthma responsive to albuterol. She enjoys running on the cross-country team, soccer, and dancing. She is an average student and denies any change in academic performance. She has never been hospitalized or had an emergency department visit for asthma or pneumonia. There has been no recent travel or exposure to a person with a chronic productive cough, tobacco smoke, or a live-in pet. Jessica lives with her mother and younger sister in a 10-year-old, carpeted apartment without any evidence of mold or recent renovation. In the process of taking the history, the pediatrician noticed that Jessica coughed intermittently, with two or three coughs during each episode. At times, the cough was harsh; at other times, it was a quiet cough, as if she were clearing her throat. She was cooperative, without overt anxiety or respiratory distress. After a complete physical examination with normal findings, the pediatrician interviewed Jessica and her mother alone. Jessica's parents had been divorced for the past 6 years. She lived with her mother but visited her father, and his new family with two young children, every weekend. She spoke about this arrangement comfortably and said that she loved her father and mother but didn't like the tension she experienced at her father's home. "I don't like adults arguing when kids are around." When asked why she thought the cough persisted so long, she commented in a neutral tone, "I don't know. It's never been like this before." Jessica's pediatrician prescribed an inhaled steroid with the albuterol. When the cough did not respond after 1 week, he ordered a chest radiograph (normal) and a tuberculin skin test (purified protein derivative-negative), and he added montelukast (a leukotriene inhibitor) and monitored airway resistance with a peak flow meter. The cough persisted, and the peak flow recording showed normal airway resistance. At this time, Jessica's pediatrician suspected a conversion reaction and contemplated the next best therapeutic strategy.
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4/45. osteoradionecrosis of the cervical vertebrae and occipital bone: a case report and brief review of the literature.

    osteoradionecrosis (ORN) is a common complication of radiation therapy. We present the first case reported in the literature of ORN involving the first and second cervical vertebrae and occipital bone in a patient who was treated with surgery and radiation therapy 9 years prior for a TxN3M0 squamous cell carcinoma of the left neck arising from an unknown primary origin. A brief review of the pathophysiology and treatment of this pathological process is also presented. Although the mandible is the most commonly affected site in the head and neck, ORN may develop in an unusual location without any preceding trauma and display an insidious but rapidly progressive course. The pathophysiology of ORN is believed to be a complex metabolic and homeostatic deficiency created by radiation-induced cellular injury and fibrosis, which is characterized by the formation of hypoxic, hypovascular, and hypocellular tissue. The irradiated bone loses its capability to increase the metabolic requirements and nutrient supply required to replace normal collagen and cellular components lost through routine wear. This results in tissue breakdown and the formation of a chronic nonhealing wound. infection plays only a contaminant role, with trauma being a possible initiating factor. diagnosis of ORN begins with a complete physical examination, including fiberoptic examination and biopsy of any suspicious lesion to eliminate the possibility of recurrent tumor. Treatment of ORN commonly requires the debridement of necrotic bone and hyperbaric oxygen therapy. The head and neck surgeon must possess a high degree of suspicion to promptly diagnose ORN and initiate early treatment. Because of similarities in clinical presentation, the most important step in the initial management of suspected ORN is to eliminate the possibility of tumor recurrence or a new primary.
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5/45. Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.

    A man was identified with two X-chromosomal neuromuscular disorders, X-linked charcot-marie-tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing to a de novo deletion in the dystrophin gene located in band Xp21.2. Although these genetic alterations of the same X-chromosome are considered as physically independent, their combination resulted in a unique phenotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions.
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6/45. Hepatic hemangioendothelioma: prenatal sonographic findings and evolution of the lesion.

    We describe a case of hepatic hemangioendothelioma that was first suspected based on prenatal sonographic findings at 19 weeks' menstrual age. At 16 weeks, the patient presented with a markedly elevated maternal serum alpha-fetoprotein level. Serial sonographic examinations revealed that the fetus had cardiomegaly, hepatomegaly with a hepatic mass and dilated intrahepatic vessels, a single umbilical artery, and a placental chorioangioma. Arteriovenous shunting within the hepatic mass was seen using color Doppler and pulsed Doppler sonography. An enlarged artery arising from the abdominal aorta supplying the mass was demonstrated. Postnatal physical examination and radiologic studies supported the diagnosis of hepatic hemangioendothelioma. The evolution in the sonographic appearance of this hepatic lesion in utero over a 17-week period is described.
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7/45. Development of progressive pulmonary interstitial and intra-alveolar cholesterol granulomas (PICG) associated with therapy-resistant chronic systemic juvenile arthritis (CJA).

    A girl aged 5 years with therapy-resistant chronic systemic juvenile arthritis (CJA) developed progressive fibrosing lung disease. histology of an open lung biopsy revealed pulmonary interstitial and intra-alveolar cholesterol granulomas (PICG). Since treatment with steroids and immunosuppressive drugs did not prevent progression of lung fibrosis, an experimental treatment with a tumor necrosis factor alpha (TNF alpha) antagonist etanercept was started. Although development of chronic changes in the lung parenchyma could not be prevented, this treatment brought considerable relief and markedly improved the child's physical capacity. By ruling out other causes for development of PICG, we concluded that the primary disease had caused the development of cholesterol granulomata by macrophage activation. We suggest, therefore, that a trial with etanercept in children with otherwise therapy-resistant CJA should be considered, especially if pulmonary complications have developed.
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keywords = physical
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8/45. Existential issues in palliative care: interviews of patients with amyotrophic lateral sclerosis.

    For the individual as well as for those caring for the patients, the diagnosis of amyotrophic lateral sclerosis (ALS) provides a great emotional challenge. Many factors, including existential distress, contribute to the emotional strain of patients with ALS. This study focuses on patients diagnosed with ALS and how they communicate existential issues related to meaning and guilt, relations, diagnosis and information, physical inability, and dying with dignity and respect for the person. The results of the present study indicate that (1) patients experience a number of problems, particularly in connection with physical inability, (2) the need to confide in someone is not particularly strong, (3) central for the value of life is to be respected as a person, (4) existential issues are of great importance to the patients.
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9/45. gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children.

    OBJECTIVE: To determine whether the long-term reduction of plasma ornithine levels by way of an arginine-restricted diet in patients with gyrate atrophy will slow the progression of this chorioretinal degeneration. DESIGN: natural history study of 2 pairs of siblings with gyrate atrophy treated with an arginine-restricted diet. MAIN OUTCOME MEASURES: Fundus photography and electrophysical and psychophysical retinal function tests. RESULTS: After 16 to 17 years of receiving an arginine-restricted diet, the younger sibling in each pair, who was prescribed the diet at an earlier age than the older sibling, demonstrated a slower progression of lesions compared with the older sibling. CONCLUSIONS: If started at an early age, long-term substantial reduction of plasma ornithine levels may appreciably slow the progression of the chorioretinal lesions and, to a lesser extent, the progressive loss of retinal function in patients with gyrate atrophy.
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10/45. Progressive osseous heteroplasia. A case report and review of the literature.

    Progressive osseous heteroplasia is a rare childhood disorder that is characterized by ectopic progressive ossification of skin, muscle, and connective tissue. We report a 5 year-old female patient with familial transmission. She developed cutaneous calcifications and ossifications within the first 2 months of life. Her father and father's aunt had subcutaneous nodules. At the age of 5 years, physical examination of the patient revealed ossified subcutaneous nodules and plaques on both upper limbs, the right side was predominantly affected. All the joints of the upper limbs were ankylosed except the left shoulder. biopsy specimens of the patient and her father revealed islands of bone in the reticular dermis and deep dermis, respectively. We suggest that all family members of progressive osseous heteroplasia patients are carefully investigated for ossified nodules because of autosomal dominant inheritance.
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