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Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL...

Aims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three...

Management of pediatric traumatic macular holes - case report

Abstract PURPOSE: To report and describe the clinical course of four pediatric traumatic macular hole (TMH) cases and respective management. CASE REPORT: Four pediatric patients with macular hole following blunt ocular trauma underwent early pars plana vitrectomy, with consecutive hole closure. Initial visual acuity was <20/400 or worse in all patients. After surgery, all patients had visual acuity improvement,...

Atypical Cogan’s Syndrome

Background. Cogan's syndrome is a rare clinical entity whose etiopathology is still unknown, and the treatment strategies are not clearly defined. Case. A 23-year-old male presented with symptoms of headache, peripheral facial palsy, persistent right hearing loss and bilateral papillitis. Workup excluded all infectious, granulomatous, neoplastic, and immune causes. The diagnosis of atypical Cogan's syndrome was...

Management of pediatric traumatic macular holes - case report

PURPOSE: To report and describe the clinical course of four pediatric traumatic macular hole (TMH) cases and respective management. CASE REPORT: Four pediatric patients with macular hole following blunt ocular trauma underwent early pars plana vitrectomy, with consecutive hole closure. Initial visual acuity was <20/400 or worse in all patients. After surgery, all patients had visual acuity improvement, with fin...

Neuregulin-1 decreases the passive force of cardiomyocytes from the right ventr...

[Abstract] ; [Resumo]

Neuregulin-1 treatment reduces the severity of pulmonary arterial hypertension

[Abstract] ; [Resumo]

Conjunctival lymphangioma: a case report and brief review of the literature

Background. Lymphangioma is a rare venolymphatic lesion, characterized by dilation of lymphatic vessels. It may occur as an isolated lesion or, more often, represent the surface component of a deep orbital lymphangioma. Case. We report a case of a conjunctival lymphangioma on a 58-year-old male that had simultaneously an upper respiratory tract infection. Excision and biopsy confirmed the nature of the lesion, ...

Successful management of Listeria monocytogenes pericarditis: case report and r...

Listeria monocytogenes, although an uncommon cause of illness in the general population, is feared principally because of the morbidity and mortality associated with CNS infections. Cardiovascular involvement with L. monocytogenes is very rare, and has been limited to endocarditis. We describe a case of Listeria pericarditis, which occurred in a 60-year-old man with Child-Pugh B cirrhosis who presented to the e...

ENCERRAMENTO PERCUTÂNEO DE COMUNICAÇÃO INTERAURICULAR E FORAMEN OVALE PATENTE E...

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