1/335. XX-male syndrome bearing the sex-determining region Y.The case of a 25-year-old man who presented for evaluation of infertility is described. The physical examination revealed testicular atrophy without gynecomastia. Repeated seminal analyses showed azoospermia, and serum hormonal levels suggested a state of a hypergonadotropic hypogonadism. Chromosomal analysis demonstrated 46XX. polymerase chain reaction revealed the existence of a sex-determining region Y. The etiology of this rare sex reversal syndrome is discussed and cases reported in japan are reviewed.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/335. endosonography in the diagnosis of "blue rubber bleb nevus syndrome": an uncommon cause of gastrointestinal tract bleeding.Blue rubber bleb nevus syndrome is a rare condition characterized by the presence of multiple angiomatic lesions of the skin. These are associated with similar lesions in other organs, namely in the gastrointestinal tract, causing anemia through chronic bleeding. We describe the case of a 72-year-old woman with microcytic anemia. A barium study revealed irregular lacunae in the distal esophagus. A subsequent endoscopy showed blue nodular lesions similar to angiomas of the esophagus and stomach fundus. endosonography confirmed its angiomatic nature. Exploration of other organs, using magnetic resonance and cranial computed tomography, did not reveal the presence of this type of lesion. In physical examination, two angiomatic lesions were observed on the face and lips, respectively. These were blue in color and compressible, leaving an empty wrinkled sac that rapidly refilled, typical of angiomas.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
3/335. Ocular changes in mucopolysaccharidosis iv A (Morquio A syndrome) and long-term results of perforating keratoplasty.BACKGROUND: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). PATIENT PRESENTATION: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. visual acuity OD cc = 0.16, OS cc = 0.05. electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. TREATMENT AND COURSE OF disease: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. visual acuity now reduced to OD 0.05, OS 0.1. CONCLUSIONS: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation - even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.- - - - - - - - - - ranking = 0.26521462595178keywords = physical (Clic here for more details about this article) |
4/335. Use of cervical spine manipulation under anesthesia for management of cervical disk herniation, cervical radiculopathy, and associated cervicogenic headache syndrome.OBJECTIVE: To demonstrate the benefits of cervical spine manipulation with the patient under anesthesia as an approach to treating a patient with chronic cervical disk herniation, associated cervical radiculopathy, and cervicogenic headache syndrome. CLINICAL FEATURES: The patient had neck pain with radiating paresthesia into the right upper extremity and incapacitating headaches and had no response to 6 months of conservative therapy. Treatment included spinal manipulative therapy, physical therapy, anti-inflammatory medication, and acupuncture. magnetic resonance imaging, electromyography, and somatosensory evoked potential examination all revealed positive diagnostic findings. INTERVENTION AND OUTCOME: Treatment included 3 successive days of cervical spine manipulation with the patient under anesthesia. The patient had immediate relief after the first procedure. Her neck and arm pain were reported to be 50% better after the first trial, and her headaches were better by 80% after the third trial. Four months after the last procedure the patient reported a 95% improvement in her overall condition. CONCLUSION: Cervical spine manipulation with the patient under anesthesia has a place in the chiropractic arena. It is a useful tool for treating chronic discopathic disease complicated by cervical radiculopathy and cervicogenic headache syndrome. The beneficial results of this procedure are contingent on careful patient selection and proper training of qualified chiropractic physicians.- - - - - - - - - - ranking = 0.26521462595178keywords = physical (Clic here for more details about this article) |
5/335. Pathologic causes of the superior oblique click syndrome.PURPOSE: To describe the clinical features in two patients with superior oblique click syndrome and the pathologic causes of their symptoms. DESIGN: Two observational case reports. PARTICIPANTS: Two patients. methods: The clinical histories, results of physical examinations, treatment, and pathologic findings in two patients with superior oblique click syndrome are reviewed and analyzed with reference to the literature. MAIN OUTCOME MEASURES: Relief of symptoms. RESULTS: Both patients were operated on; one was found to have a schwannoma and the other a giant cell tumor of tendon sheath as causes of their symptoms. Symptoms were relieved by removal of the lesions and have not recurred. CONCLUSION: Definite pathologic lesions may cause the superior oblique click syndrome.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
6/335. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q.- - - - - - - - - - ranking = 0.26521462595178keywords = physical (Clic here for more details about this article) |
7/335. Neurofibromatosis, stroke and basilar impression. Case report.Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
8/335. The Camera-Marugo-Cohen syndrome: report of two new patients.This report describes two unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Several obesity syndromes with common characteristics have been described. Findings in our patients, in addition to those of the previously reported cases, include body asymmetry, characteristic physiognomy, lordosis, and typical anomalies of hands and feet. These physical manifestations correspond to the Camera-Marugo-Cohen syndrome. Our patients represent the second and third cases of this condition.- - - - - - - - - - ranking = 0.26521462595178keywords = physical (Clic here for more details about this article) |
9/335. Frozen shoulder syndrome associated with subpectoral defibrillator implantation.Pectoral implantation of transvenous non-thoracotomy internal cardioverter defibrillators (ICD) has resulted in very few complications whether placed subpectorally or subcutaneously. We report the case of a 68 year old man with a subpectorally implanted MINI-plus (Cardiac Pacemakers, Incorporated, St. Paul, Mn.) transvenous ICD who developed nearly instantaneous severe ipsilateral shoulder pain and immobilization. The symptoms progressed despite aggressive physical therapy.We elected to remove the device from the pectoral site and place it in a traditional abdominal position due to the severity, duration and refractoriness of his symptoms. This procedure utilized the chronic Endotak DSP (Model 0125, Cardiac Pacemakers, Incorporated) transvenous lead, a compatible Endotak DSP lead extender (Model 6952, Cardiac Pacemakers, Incorporated) and the above described ICD. Immediate relief of symptoms was accomplished by relocation of the device to an abdominal site.This intervention should be reserved for patients with severely debilitating symptoms. Prospective comparison of subpectoral and subcutaneous surgical approaches with respect to patient comfort and acceptance and complications may be warranted.- - - - - - - - - - ranking = 0.26521462595178keywords = physical (Clic here for more details about this article) |
10/335. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible. cytogenetic analysis utilizing high resolution chromosome banding technique showed an unbalanced karyotype consisting of 46,XY,add(21)(q22.3) that originated from maternal balanced translocation between chromosomes 7 and 21. fluorescence in situ hybridization (FISH) using micro-dissected library probe pool from chromosome 7 confirmed the additional material on 21q was derived from chromosome 7. Our results indicated that the patient had an unbalanced translocation, 46,XY, der(21)t(7;21)(p21.2;q22.3)mat, which resulted in duplication for distal 7p. Our patient is similar to reported cases with a 7p15-->pter or larger duplication of 7p, suggesting that the critical segment causing the characteristic phenotype of 7p duplication syndrome, including large anterior fontanel, exists at 7p21.2 or 7p21.2-->pter.- - - - - - - - - - ranking = 0.26521462595178keywords = physical (Clic here for more details about this article) |
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