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1.
Joseph C. Gretzula D.O. Osmar Hevia B.S. Lawrence S. Shachner M.D. John H. DiLiberti M.D. † R. H. A. Ruvalcaba M.D. ‡ James R. Schimshock M.D. § Richard G. Weleber M.D. Fahed Halal M.D. # Mark H. Lipson M.D. Bruce Blumberg M.D. †† Paul J. Weber M.D. 《Pediatric dermatology》1988,5(1):28-32
In 1980 a syndrome was first described in two adult males, consisting of macrocephaly, pigmented macules on the glans and shaft of the penis, and hamartomatous intestinal polyps. Since then, 10 additional cases have been identified. Herein, we present two new cases and review the cutaneous manifestations as well as additional features in patients with the Ruvalcaba-Myhre-Smith syndrome. 相似文献
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Sarra Zairi Amany Touil Taher Mestiri Khaled Hadhri Mondher Mestiri Adel Marghli 《African health sciences》2022,22(2):229
BackgroundCostovertebral hydatidosis is a rarely reported clinical and radiological entity, estimated at less than 1% of thoracic hydatid locations. Its management is still not codified.ObjectiveThe aim of our study was to specify the management peculiarities of costovertebral hydatidosis.MethodsBetween January 2000 and December 2018, 14 patients were managed for costovertebral hydatidosis in a thoracic surgery department.ResultsThe mean age of our patients was 48 years. The history of a prior hydatid disease was found in 7 patients. Imaging features were suggestive in 13 cases. They showed: involvement of the spinal canal (6 cases), of the soft tissues (5 cases) and spinal cord compression (3 cases). Costovertebral resection of the hydatid lesions was complete in 12 cases. Four patients presented postoperative complications.ConclusionCostovertebral hydatid involvement, may threaten the functional and vital prognosis. Therefore, early diagnosis and management are mandatory, before the occurrence of irreversible neurological impairment. Surgical resection remains the treatment of choice and must be complete whenever possible. Relapse is frequent, hence the importance of a regular follow-up. 相似文献
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The purpose of this in‐vitro study was to evaluate the influence of the framework design on the durability of inlay‐retained cantilever fixed dental prostheses (IR‐FDPs), made from zirconia ceramic, after artificial ageing. Forty‐eight caries‐free human premolars were prepared as abutments for all‐ceramic cantilevered IR‐FDPs using six framework designs: occlusal–distal (OD) inlay, OD inlay with an oral retainer wing, OD inlay with two retainer wings, mesial–occlusal–distal (MOD) inlay, MOD inlay with an oral retainer ring, and veneer partial coping with a distal box (VB). Zirconia IR‐FDPs were fabricated via computer‐aided design/computer‐aided manufacturing (CAD/CAM) technology. The bonding surfaces were air‐abraded (50 μm alumina/0.1 MPa), and the frameworks were bonded with adhesive resin cement. Specimens were stored for 150 d in a 37°C water bath during which they were thermocycled between 5 and 55°C for 37,500 cycles; thereafter, they were exposed to 600,000 cycles of dynamic loading with a 5‐kg load in a chewing simulator. All surviving specimens were loaded onto the pontic and tested until failure using a universal testing machine. The mean failure load of the groups ranged from 260.8 to 746.7 N. Statistical analysis showed that both MOD groups exhibited significantly higher failure loads compared with the other groups (i.e. the three OD groups and the VB group) and that there was no significant difference in the failure load among the OD groups and the VB group. In conclusion, zirconia IR‐FDPs with a modified design exhibited promising failure modes. 相似文献
7.
K. Shibbani A.C. Fahed L. Al‐Shaar M. Arabi G. Nemer F. Bitar M. Majdalani 《Clinical genetics》2014,85(2):127-137
Solute carrier family 22 member 5 (SLC22A5) encodes a sodium‐dependent ion transporter responsible for shuffling carnitine across the plasma membrane. This process provides energy for the heart, among other organs allowing beta‐oxidation of fatty acids. Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with cardiac, skeletal, or metabolic symptoms. We hereby describe two novel mutations in SLC22A5 in two Lebanese families associated exclusively with a cardiac phenotype. The frequency of the cardiac, metabolic and skeletal symptoms in PCD patients remains undefined. All the reported eight PCD patients belonging to five different Lebanese families have an exclusive cardiac phenotype. Carnitine levels appear to be directly linked to the type and position of the mutation and the severity of the phenotypic presentation does not seem to be associated with serum carnitine levels. A comprehensive review of 61 literature‐reported PCD cases revealed an exclusive cardiac manifestation frequency at 62.3% with a very low likelihood of simultaneous occurrence of cardiac and metabolic manifestation. 相似文献
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David Gozal Fahed HakimLeila Kheirandish-Gozal 《Respiratory physiology & neurobiology》2013,185(1):177-185
Obstructive sleep apnea (OSA) is highly prevalent sleep disorder of breathing in both adults and children that is fraught with substantial cardiovascular morbidities, the latter being attributable to a complex interplay between intermittent hypoxia (IH), episodic hypercapnia, recurrent large intra-thoracic pressure swings, and sleep disruption. Alterations in autonomic nervous system function could underlie the perturbations in cardiovascular, neurocognitive, immune, endocrine and metabolic functions that affect many of the patients suffering from OSA. Although these issues have received substantial attention in adults, the same has thus far failed to occur in children, creating a quasi misperception that children are protected. Here, we provide a critical overview of the evidence supporting the presence of autonomic nervous system (ANS) perturbations in children with OSA, draw some parallel assessments to known mechanisms in rodents and adult humans, particularly, peripheral and central chemoreceptor and baroreceptor pathways, and suggest future research directions. 相似文献
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