Biomedical subjects
Publications and source records attributed to G Kohut.
The life, education, and contributions of E. Létiévant are reviewed. He first observed esthesiography, protopathic sensibility, and the "tingling sign" in peripheral-nerve lesions toward the end of the 19th century. His thoughts and language still remain familiar to us, and his work conveys a poignant freshness.
We report on a patient with ocular-ectodermal syndrome who was previously described in 1993 [Am J Med Genet (1993) 45:764-766]. This boy has now developed additional manifestations, including giant cell granulomas and non-ossifying fibromas. This adds to the list of phenotypic manifestations of this condition.
A patient with sensory changes in the territory of the ulnar nerve due to a partial nerve lesion 19 years previously, was treated by Transcutaneous Vibratory Stimulation. The effectiveness of this treatment was verified by subjective criteria and by the following tests: Moving and Static Two-Point discrimination Test, Light-touch-Deep-pressure (Semmes-Weinstein) Test, Ninhydrin sweat Test and Wrinkle Test. These tests document both a marked improvement in superficial sensitivity and partial regulation of sympathetic nervous system function.
Congenital pulmonary lymphangiectasis is a rare anomaly that is causally heterogeneous. It can occur as either an isolated finding or one manifestation of several multiple congenital anomaly syndromes. We describe a child with congenital pulmonary lymphangiectasis and the anomalies who likely has a provisionally unique condition.
OBJECTIVE: Juvenile xanthogranuloma (JXG) with systemic (extracutaneous) involvement is a rare histiocytic disorder in which significant morbidity and occasional deaths may occur. The objective of this study was to characterize the spectrum of anatomic involvement, associated clinical problems, and management considerations in children with systemic JXG. STUDY DESIGN: Two current cases and literature reports of 34 children with various forms of systemic AG were analyzed with respect to age, clinical presentation, site(s) of involvement, therapy, and outcome. RESULTS: The median age of the 36 patients was 0.3 years (range, birth to 12 years). Symptoms were usually referable to bulky or infiltrative disease. Twenty patients had disease in two or more sites. Cutaneous lesions were present in fewer than half the patients. The most frequent extracutaneous sites of disease were the subcutaneous soft tissue (12); central nervous system (8); liver/spleen (8); lung (6); eye/orbit, oropharynx, and muscle (4 each); with three or fewer instances of disease in each of several other sites. Most patients were treated with excision or had spontaneous regression (some with organ involvement). However, 12 patients received treatment that included radiation or systemic chemotherapy. Survivors, some with long-term disabilities, included young children who had received radiation therapy to the brain, eye, skin, or heart. Two patients died of disease. CONCLUSIONS: Systemic AG may involve varying numbers and combinations of extracutaneous sites. The extent of disease should be determined in patients with AG who are suspected to have systemic involvement. In contrast to the cutaneous form, systemic AG may be associated with significant complications requiring aggressive medical care. When feasible, surgical excision of lesions may be curative. Optimal treatment for symptomatic, unresectable disease is currently undefined but should be selected to minimize toxic effects in these children who are typically younger than 1 year old at presentation.
OBJECTIVE: To catalog and evaluate patterns of disease in families of children with pleuropulmonary blastoma (PPB). METHODS: Data have been collected since 1988 on 45 children with PPB and their families. All pathologic materials were centrally reviewed. Preliminary molecular genetic analyses were performed when possible. RESULTS: In 12 of 45 patients, an association was found between PPB and other dysplasias, neoplasias, or malignancies in the patients with or in their young relatives. The diseases found to be associated with PPB include other cases of PPB, pulmonary cysts, cystic nephromas, sarcomas, medulloblastomas, thyroid dysplasias and neoplasias, malignant germ cell tumors, Hodgkin disease, leukemia, and Langerhans cell histiocytosis. Abnormalities of the p53 tumor suppressor gene, Wilms tumor suppressor gene (WT1), and the putative second genetic locus for Wilms tumor (WT2) were not found in preliminary investigations. CONCLUSIONS: The occurrence of PPB appears to herald a constitutional and heritable predisposition to dysplastic or neoplastic disease in approximately 25% of cases. All patients with PPB and their families should be investigated carefully. Further research of this new family cancer syndrome may provide insight into the genetic basis of these diseases.
PURPOSE: To determine the value of ultrasound (US) in recognizing the ligamentary dislocation occasionally associated with gamekeeper thumb (Stener lesion). Detecting such dislocations is important because they require surgical repair, whereas nondisplaced ruptured ligaments respond to conservative treatment. This dislocation cannot be reliably diagnosed with standard methods, leading to unnecessary surgical procedures. MATERIALS AND METHODS: Forty-eight hyperabduction injuries of the thumb were included. The thumbs were either unstable or unexaminable because of tenderness. No fractures were seen on standard radiographs. RESULTS: Sonograms were positive in 13 patients, who then underwent surgery. A Stener lesion was found in 10 patients and a partial Stener lesion in three. Three patients with negative sonograms also underwent surgery, and no dislocation was found. The other 32 patients with negative US findings were treated conservatively, and none developed subsequent instability. CONCLUSION: US proved to be a reliable, simple, and easily reproducible tool for recognition of the Stener lesion.
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Twenty-one patients presenting clinically with a lesion of the ulnar collateral ligament complex of the metacarpo-phalangeal joint of the thumb underwent prospective diagnostic echography, in order to recognize the possible dislocation of the ligament over the adductor aponeurosis (Stener's lesion). Seven patients were treated surgically, the others conservatively. The accuracy of the echography was controlled by surgery and by the follow-up. We determined 15 true negatives, 4 true positives, 2 false positives, there was no false negative. Ultrasound imaging is a non-invasive, cost-effective diagnostic aid in differentiating the ruptured non-displaced ligament from the true Stener's lesion, solely requiring surgical repartir.
A case of a patient with a painful posttraumatic digital neuroma that had been present for 13 years is presented. Treatment for the painful neuroma was twice a week for one month using transcutaneous vibratory stimulation (TVS). The patient was assessed using various tests before and after this period of treatment. There was a reduction in pain, and dexterity and strength improved. The method of treatment and the assessment techniques are described. In this case, the therapeutic benefit of the method could be clearly differentiated from the natural healing course, since no significant improvement had occurred spontaneously over many years.
The phenomenon of paresthesia elicited by percussion of regenerating axons is usually associated with Tinel and Hoffmann, who both described it separately in 1915, although the same phenomenon had been described previously, in 1909, by Trotter and Davies. This sign is used widely, but its standardization is almost completely lacking, its grading is seldom used, and its reliability or validity is scarcely mentioned in the literature. The authors present a method of standardization and grading of the tingling response by means of a vibrostimulator, which permits precise localization of the trigger point and uniform stimulation. The tingling response may then be classified according to its location and to the magnitude threshold at which the response is triggered. In the distal part of the nerve, after neurotmesis repair, the tingling sign is graded T++ (tingling after a weak stimulus) and T+ (tingling only after a strong stimulus). At the site of the injury, the initial tingling sign is graded T0. The sign is graded T00 if, independent of recovery, a slight positivity persists at the initial site of injury. Grading of sensory recovery is poorly standardized, since different authors use different variations and modifications of existing classifications. The authors of this paper present a cross-matching of these classifications and propose to use Dellon's modification of Zachary's classification in eight stages, from S0 to S4. A discussion of the probability of eliciting a tingling sign during axonal regeneration concludes that the clinician can expect to trigger a T+ + sign when sensory recovery evolves from stage S0 to stage S1 and should no longer expect to trigger one when sensory recovery improves from stage S2+ to stage S3.