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Old Female Patient (old + female_patient)
Selected AbstractsNeurofibromatosis type 1: should we screen for other genetic syndromes?EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 9 2009A case report of co-existence with multiple endocrine neoplasia 2A Abstract Background, NF 1 is a genetic disorder with an autosomal dominant pattern of inheritence. It is associated with neoplastic disorders mainly derived from the neural seath. However, the co-existence of NF1 with the full spectrum of MEN 2A has rarely been reported. The aim of the study was to investigate the presence of secondary neoplasias in a patient with diagnosed NF1, and in particular the presence of hyperparathyroidism and the possible co-existence with another pheochromocytoma-related syndrome. Methods, We report a case of a 70 years old female patient who had NF1. The patient was referred to our center and was diagnosed with an isolated pheochromocytoma of the right adrenal gland for which she underwent right adrenalectomy. We further investigated for the presence of another pheochromocytoma-related syndrome and in particular for the presence of hyperparathyroidism and medullary thyroid cancer. Molecular screening for germline mutations of the genes NF1, RET and VHL has also been performed. Results, The patient was further diagnosed with hyperparathyroidism and medullary thyroid cancer, having the full spectrum of the clinical picture of the MEN2A syndrome. The genetic testing revealed the germline mutation for NF1 but not for the RET proto-oncogene which is generally found in MEN2A cases. Conclusion, To our knowledge this is a rare case of co-existence of two pheochromocytoma-related genetic syndromes, and generates the question of whether all patients with these syndromes should undergo a thorough clinical and laboratory investigation for the possibility of another co-existing pheochromocytoma-related genetic syndrome. [source] Anorexia nervosa and Raynaud's phenomenon: A case reportINTERNATIONAL JOURNAL OF EATING DISORDERS, Issue 8 2007Basak Yucel MD Abstract Objective: To describe and discuss potential relationships between anorexia nervosa (AN) and Raynaud's phenomenon, the course and concurrent treatment of these two disorders as they appeared simultaneously, and a potential treatment modification entailed in such concurrent therapies. Background: Although Raynaud's phenomenon has been described during the course of AN, the associations and interactions between these two conditions are not clear. Method: We report the medical workup, treatment, and outcomes in a 19-year old female patient who developed Raynaud's phenomenon following the onset of AN. Results: After treatment with nutritional rehabilitation, counseling, and individual and group therapy, the patient's weight, eating disorder-related behaviors, and attitudes improved significantly. Raynaud's related symptoms improved, following treatment with a calcium channel blocker and antiaggregant therapy. In conjunction with nutritional efforts to treat the patient's long-standing amenorrhea and osteopenia, the treatment team elected to also administer estrogen hormone in addition to oral calcium and vitamin D supplementation. Since oral contraceptives are to be avoided in patients with Raynaud's phenomenon who show clinical findings suggesting connective tissue disorder, the treatment team elected to treat this patient with transdermal hormone replacement therapy. Conclusion: The co-occurrence of AN and Raynaud's phenomenon merits close and persistent follow-up by a multidisciplinary team and may lead to alterations of usual therapeutic approaches. © 2007 by Wiley Periodicals, Inc. [source] Phenotype variability in spinocerebellar ataxia type 2: A longitudinal family survey and a case featuring an unusual benign course of disease,,MOVEMENT DISORDERS, Issue 5 2009Sascha Hering MD Abstract We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the index patient presented with a very mild course of disease, scoring only six points on the Scale for the Assessment and Rating of Ataxia after a disease duration of 13 years. Otherwise, intragenerational variability within family members such as the age at onset of disease and the course of disease was low. Reinvestigation of the genetic background variables in the SCA2 gene carrier reported here showed 27 repeats in the normal allele and 37 noninterrupted repeats in the abnormal allele. Interestingly, this patient has been taking lithium-carbonate over more than 30 years because of psychotic depression. Although anecdotic, this SCA2 case may provide promising insights into possible disease modifying mechanisms in SCA2. © 2009 Movement Disorder Society [source] Orthodontic and prosthetic rehabilitation of unilateral free-end edentulous spaceAUSTRALIAN DENTAL JOURNAL, Issue 4 2006SG Arslan Abstract Most patients prefer fixed dentures, even in the presence of uni and bilateral free-end saddle. The most suitable treatment for this is an implant or implant-supported prosthetic restoration. A combined prosthetic and orthodontic treatment with distalization of a posterior tooth towards the edentulous region is an alternative approach. This study involved a 34.3 year old female patient who had a free-end edentulous space on the left mandibula and missing 1st and 3rd molars on the right mandibula. The patient was offered both a removable partial denture and implant treatment options. A detailed explanation of her situation and suitable treatments were given but she refused both options. Therefore, an alternative combined treatment involving prosthodontic and orthodontic disciplines was performed. The second premolar tooth was distalized orthodontically and used as a distal bridge abutment. After 65 months, prosthetic restoration was functional and abutment teeth and periodontium were pathology free, and the patient was satisfied with the results. [source] | ||||||||||