Noonan syndrome is a rare genetic disease with multisystemic manifestations, typically diagnosed in infancy and childhood. This case report presents 53-year-old woman no significant medical history who presented shortness of breath was subsequently syndrome. The patient exhibited characteristic facial dysmorphology, including narrow face, low set ears, pectus excavatum. Physical examination rev...

E xtensive investigations of the pathophysiology of non-insulin-dependent diabetes mellitus (NIDDM) have identified two defects in endocrine function: insulin resistance and insulin deficiency. Despite general agreement that both defects are present in most patients with established NIDDM, many authorities have debated the question of which defect is the primary cause of NIDDM. Many interesting...

purpose: to evaluate the diagnostic signs, intraoperative complications and postoperative outcomes in children with congenital cataract and pre-existing posterior capsule defect (ppcd). methods: this interventional case series was conducted on 14 eyes of 7 patients who underwent lensectomy-anterior vitrectomy for congenital cataract with ppcd. all children had bilateral cataract. preoperative d...

Friedreich's ataxia (FRDA) is an inherited, neurodegenerative disease that typically presents in childhood and results progressive gait limb ataxia, with the extraneural features of hypertrophic cardiomyopathy, diabetes scoliosis. The genetic defect a deficiency frataxin protein, which important for mitochondrial function, especially brain heart. Drug development has approached FRDA through pat...

parotid stafne bone defect is a very rare and infrequent variant, which is located on the buccal or lingual surface of the mandibular ascending ramus. in this paper, a case of parotid stafne defect, which was incidentally discovered during dental radiographic examination, is reported. this bone defect was observed as a lucent oval-shaped defect on the lingual aspect of the right mandibular ramu...