Antley-Bixler syndrome: case report and review of the literature

Five patients requiring dialysis for acute pulmonary edema and uremia from severe renal artery occlusive disease underwent surgical revascularization. Three patients with oliguria had excellent outcomes and remain dialysis-independent as long as twenty-four months following operation (mean serum creatinine 2.0 mg/dl). The two patients who were anuric both had technically successful operations but remained dialysis-dependent. Diagnostic evaluation of the azotemic patient suspected to have renal arterial occlusive disease should include a history and physical examination, urinalysis, renal ultrasound, and duplex scan of the renal arteries. In appropriate patients, arteriography should then be considered if other diagnoses appear unlikely. This algorithm may help identify those patients who might benefit from renal revascularization. It appears that oliguria rather than anuria and the angiographic demonstration of a patent distal vessel and nephrogram suggest a better functional outcome after revascularization. Unfortunately, the response to surgery cannot be reliably predicted and patient selection remains a challenge, but retrieval of renal function can be achieved in some cases even if patients are already being hemodialyzed.     

Antley-Bixler syndrome. Description of two new cases and review of the literature. Prognostic and therapeutic aspects

Taxol cytotoxicity was evaluated in human head and neck squamous carcinoma cell lines growing as multicellular tumor spheroids (MTS) and compared with monolayered culture using conventional clonogenic assays. End points were respectively the concentration inhibiting 50% of the cellular growth (IC50) in clonogenic assays and the concentration required to induce a 50% decrease in the MTS volume (ID50) or number in the overall spheroid population (SCC50). A significant difference was observed when the cells were exposed for 10 days to Taxol as a consequence of the different growth kinetics of the spheroids. After 16 day exposure of spheroids to Taxol, no difference remained between ID50 and IC50. In addition, a significant correlation was found between individual spheroid sensitivity to Taxol (ID50) and the spheroid population sensitivity (SCC50). Both parameters (ID50 and SCC50) defined in cell models appear useful for the evaluation of chemosensitivity of three-dimensional structures known to be closer to in vivo tumor models.     

Shprintzen-Goldberg syndrome. A case report

Major hemorrhage after pulmonary resection is infrequent. It is usually due to an unsecured vessel, and immediate reoperation to control hemorrhage is indicated. Diffuse bleeding from raw chest wall surfaces can complicate pleurectomy. Control of bleeding from this cause is difficult, and standard techniques may fail. Thoracic packing is occasionally needed. The authors describe a technique for thoracic packing. This technique permits removal of thoracic packing at the bedside, and simplifies subsequent management of an empyema, should one develop.     

A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis

A new syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis has been described. The family history suggests either an autosomal dominant mode of inheritance with limited expression in females or X-linkage. Other syndromes with similar phenotypes and modes of inheritance are discussed. The need for accurate and complete family histories in cases involving cleft palate and cleft lip/palate is discussed in relation to genetic counselling and recurrent risk estimates.     

Fragile ''X'' syndrome. A case study

Aim of this paper is to assess the validity of bone scanning for radiation therapy treatment planning in the skeletal system. Radiation therapy treatment planning in the skeletal system is based on plain film radiographs and bone scanning. Between January 1, 1993 and June 30, 1994, 228 patients were irradiated due to malignancies in the skeletal system. Included were bone metastases, lymphomas, sarcomas and bone invasion of neuroblastoma. The morphological display of the plain film radiographs and the bone scintigraphies were compared and modifications of the target volume due to the scan findings quantified. In 17 of 228 patients (7.5%) the target volume was modified by at least 2 cm due to tumor invasion depicted by radionuclide scanning only. Bone scintigraphy enables a sensitive display of bony invasion in skeletal malignancies. Because of a scan induced alteration of the target volume in 7.5% of the cases, bone scanning cannot be abandoned in RT treatment planning.     

Spontaneous intracranial hypotension syndrome. A case

We report a 49-year-old woman with spontaneous intra-cranial hypotension. this characteristic syndrome associates postural headache and a low cerebro-spinal fluid pressure. It was confirmed by lumbar puncture and magnetic resonance imagery. We describe the clinical and the cerebro-spinal fluid features, the radiological appearances, and the clinical and radiological course. The interests of this diagnosis are, first, its spontaneous benign course and, second, to avoid unnecessary invasive investigations.     

Occult Boerhaave''s syndrome without vomiting prior to presentation. Report of a case

PURPOSE: Cougar attacks on humans appear to be on the rise. A review of all attacks on children was performed to determine the method of attack and injury patterns so that a treatment regimen as well as possible preventative measures could be determined. METHODS: A review of all attacks, including attacks on children, was performed, including three recent attacks treated at our institution. Situation, adult supervision, patient age, injuries recorded, survival, and mode of attack, if known, were reviewed. RESULTS: There were 50 documented attacks on children with a 25% fatality rate. Most children were not alone at the time of the attack (92%), and in many instances adult supervision was present or nearby. Severe head and neck lacerations along with puncture wounds were the most common injury. Examples of typical cervical injuries include a nonfatal vertebral artery injury, phrenic nerve injury, a fatal internal carotid artery injury, and a fatal cervical spine injury. The cougar was rabid in two cases. Pasteurella resulted in late infections in two patients. CONCLUSIONS: Based on the pattern of injuries, the authors recommend aggressive evaluation for occult cervical injuries as well as surgical debridement. Antibiotics should cover oropharyngeal flora including Pasteurella multocida. Rabies prophylaxis is indicated. Adult supervision in wilderness areas is not necessarily protective.     

Parry-Romberg syndrome. Summary and new knowledge based on an unusual case

A 52 year old female with Parry-Romberg syndrome presented with gradual atrophy of the subcutaneous fat and muscle on her chest and back. The disease process was limited to the C3 to T2 dermatomes on the right side. In addition, there was muscle atrophy of the right arm and extending down the back to T10, als well as right sided paralysis of the diaphragm. Sympathetic nerve blockage reduced pain and hyperesthesia; no progression was seen over several months using NMR to monitor the patient. The Parry-Romberg syndrome has been defined in many ways; in view of this unusual case, we review the literature, attempting to provide a more accurate case definition.     

Autoimmune polyglandular syndrome type I. A case report

Calcineurin is a Ca2+ calmodulin dependent protein phosphatase which has an important role in the control of intracellular Ca2+ signalling. The protein is a heterodimer of one catalytic (CnA) subunit and one regulatory (CnB) subunit. As suggested by the protein sequence and confirmed by the crystallographic structure, the catalytic subunit of calcineurin (CnA) has high homologies with other protein phosphatases. The regulatory subunit (CnB) belongs to the EF-hand Ca2+ binding protein family. Despite its similarity with calmodulin, it has a different tertiary structure. Calcineurin is the target of two important immunosuppressant drugs: cyclosporin A and FK506. Subsequently, a detailed clarification of the role of calcineurin in the cytokine mediated activation of the T-cells has been possible. The understanding of the role of calcineurin in other cells, in particular neurons, is also progressing rapidly.     

Olmsted syndrome: report of a new case

We report the case of a 20-year-old man, who was born with an intense erythema of the genital area, unresponsive to any treatment employed. When he was 9 months old, he presented with well-defined hyperkeratotic erythematous plaques around the mouth, eyes, nose, and perianal area, with similar plaques on the lateral aspect of the neck and axillae. At the same time the erythema of the genital area became hyperkeratotic. When he was 2 years old, he presented with a disabling palmoplantar keratoderma, initially focal, and later diffuse, also unresponsive to local or systemic treatments employed. The lesions have varied during the course of the disease without ever clearing completely. The axillary and inguinal plaques have shown spontaneous resolution on occasion. Six skin biopsies have been performed with no conclusive histological diagnosis of any of the typical disorders of keratinization. All treatments, topical and systemic, including etretinate and acitretin, have failed to improve the condition. We believe that this patient has Olmsted syndrome, a rare form of palmoplantar keratoderma with periorificial keratotic plaques.     

A new technique of elbow arthrodesis. A case report

Changes in body composition, somatic growth, power and strength of high school wrestlers (W, n = 8, 15.9 +/- 0.3 yrs) and controls (C, n = 6, 16.1 +/- 0.2 yrs) were studied early, mid-, late-, and 3.5-months post-season. Elbow flexion peak power (FPP), peak torque (FPT), extension peak power (EPP), and peak torque (EPT) were measured on an isokinetic dynamometer. C demonstrated normal rates of somatic growth and gains in strength and power. However, for W, significant (p < 0.05) decreases were found in: weight (WT, 61.6 +/- 2.8 to 59.2 +/- 2.8 kg), relative fat (%BF) (7.8 +/- 0.7 to 6.1 +/- 0.7 %), FPT (33.3 +/- 2.3 to 29.9 +/- 2.7 Nm), FPP (125.8 +/- 0.3 to 107.8 +/- 8.4 W), EPT (37.5 +/- 2.5 to 36.2 +/- 3.8 Nm), and EPP (132.7 +/- 8.4 to 126.7 +/- 12.3 W), between early-season and late-season and significant increases in WT (5.4 +/- 0.4 kg), fat-free mass (FFM, 4.4 +/- 0.7 kg), FPT (9.4 +/- 1.7 Nm), FPP (38.8 +/- 8.8 W), EPT (6.5 +/- 1.0 Nm), and EPP (24.4 +/- 4.7 W), between late-season and post-season. Compared to C, W had significantly (p < 0.05) smaller increases in mid-arm girth and flexed mid-arm cross-sectional muscle area (X-SECT) during the wrestling season and larger increases in shoulder girth, abdominal girth, and mid-arm girth, X-SECT, and biacromial, biilium, and anterior-posterior chest breadths during the post-season. Power and strength measures were significantly correlated with FFM, lean upper limb volume (ULV), and X-SECT (r = 0.74 to 0.93, p <0.0001). When covaried for FFM, ULV or X-SECT seasonal declines in strength and power were no longer significant while post-seasonal increases remained. In conclusion, pre- to late- season W demonstrated a lack of lean tissue accretion and reductions in strength. At post-season these variables returned to, or were above, pre-season levels. Results of analysis of covariance indicated that lean tissue changes were associated with the changes in strength and power.     

Nevus comedonicus syndrome: a new pediatric case

A case of childhood cutaneous angiosarcoma is presented to emphasize the importance of accurate histological diagnosis in lymphovascular malformations that behave atypically and to review the natural history, aetiology, and differential diagnosis of this condition.     

Chronic fatigue syndrome: A new clinical application.

Chronic fatigue syndrome (CFS), a poorly understood illness of uncertain etiology, has received scant attention in the psychological literature. This article reviews the CFS research literature from a clinical perspective, presents explanatory models of the illness, and describes cognitive–behavioral interventions for CFS. Finally, case management issues that are based on the author's research and clinical observations are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Autoimmune insulin syndrome. The first Danish case report

This is the first case published in Denmark of autoimmune insulin syndrome (mb. Hirata). The patient, a 53 year old female suffering from a rheumatoid systemic disease, demonstrated high concentrations of autoimmune insulin antibodies in serum, a diabetic glucose tolerance test and recurrent postprandial hypoglycaemic attacks.