New variants of ALMS1 gene and familial Alström syndrome case series.

OBJECTIVES: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome. REPORT: This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and clinical phenotype in a case series of patients with familial Alström syndrome. Therefore, we describe 4 cases presenting a complete audiometric profile of two pairs of unrelated siblings, to provide a better understanding of this very rare disease. Additionally, the present study identified two heterozygous mutations in the ALMS1 gene. CONCLUSION: This Clinical Capsule Report highlights the importance of audiological monitoring throughout the development of patients with Alström syndrome. The two variants found were not previously reported in the literature, which expands the spectrum of ALMS1 variants in Alström syndrome.

Cochlear Implants after Meningitis and Otosclerosis: A Comparison between Cochlear Ossification and Speech Perception Tests.

(1) Background: Performance after Cochlear Implantation (CI) can vary depending on numerous factors. This study aims to investigate how meningitis or otosclerosis can influence CI performance. (2) Methods: Retrospective analysis of CI performance in patients with etiological diagnosis of meningitis or otosclerosis, comparing the etiologies and analyzing the image findings, along with electrode array insertion status and technique. (3) Results: Speech recognition in CI patients with otosclerosis improves faster than in patients with meningitis. Other features such as radiological findings, degree of cochlear ossification, surgical technique used and total or partial insertion of electrodes do not seem to be directly related to speech recognition test performance. (4) Conclusions: Patients should be warned that their postoperative results have a strong correlation with the disease that caused their hearing loss and that, in cases of meningitis, a longer duration of speech-language training may be necessary to reach satisfactory results.

Middle Ear Cholesteatoma and Vestibular Schwannoma Resection Followed by Cochlear Implant: Surgical Challenges and Audiological Outcomes.

(1) Background: The occurrence of vestibular schwannoma (VS) associated with cholesteatoma is rare. A hearing impairment is one of the most significant issues in such cases. Moreover, the presence of middle and inner ear pathologies combined may represent a surgical challenge. No studies have described a combined surgical approach for these coexisting conditions (VS and cholesteatoma), nor the hearing rehabilitation outcomes of using cochlear implants for these patients. (2) Case Report: This paper is on a female patient who underwent simultaneous surgical treatments for VS and middle ear cholesteatoma in the right ear followed by a cochlear implant, describing the technique and the audiological results. (3) Conclusions: The surgical approach was successful and enabled the resection of lesions with the auditory nerve and cochlea preservation. Cochlear implantation in the right ear showed positive postoperative results, with an improvement in the results with the CI in silent and noisy environments.

A Rare Case of Giant Cavernous Hemangioma of the Maxillary Sinus.

BACKGROUND Hemangiomas are commonly located in the head and neck and rarely in the paranasal sinuses. These are benign vascular lesions, but with an increased risk of bleeding. The surgical approach must have detailed prior planning, given the increased risk of intraoperative bleeding. We herein describe the case of a 32-year-old male patient with recurrent epistaxis, nasal obstruction, and facial deformity due to a giant cavernous hemangioma successfully treated by endoscopic sinus surgery. CASE REPORT A 32-year-old man had nasal obstruction and intermittent epistaxis for 2 months. Physical examination also revealed facial deformity with enlargement of the nasal base and bulging in the maxillary region on the right. A soft and friable lesion occupying the entire right nasal cavity without bone erosion was observed on computed tomography (CT scan). Before surgery, the patient underwent angiographic evaluation, with evidence of main irrigation of the lesion by the right maxillary artery, which was then embolized. The patient underwent endoscopic nasal surgery. He maintained postoperative follow-up for 18 months, without recurrence of the lesion. Anatomopathological examination confirmed a cavernous hemangioma. CONCLUSIONS Cavernous hemangioma is a benign lesion of the paranasal sinuses. Due to non-specific clinical and radiological findings, its preoperative diagnosis is always challenging. The high index of suspicion of the malignancy should only be discarded after complete anatomopathological evaluation. A correct diagnosis is essential to avoid facial anatomical remodeling while excluding the diagnosis of other malignant lesions.

New variants of ALMS1 gene and familial Alström syndrome case series

Abstract Objectives To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome. Report This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and clinical phenotype in a case series of patients with familial Alström syndrome. Therefore, we describe 4 cases presenting a complete audiometric profile of two pairs of unrelated siblings, to provide a better understanding of this very rare disease. Additionally, the present study identified two heterozygous mutations in the ALMS1 gene. Conclusion This Clinical Capsule Report highlights the importance of audiological monitoring throughout the development of patients with Alström syndrome. The two variants found were not previously reported in the literature, which expands the spectrum of ALMS1 variants in Alström syndrome.

Correção cirúrgica de aneurisma dissecante crônico da aorta ascendente: relato de caso / Surgical correction of dissecting aneurysm chronic ascending aorta: case report

As doenças da aorta apresentam elevada morbimortalidade. Um aneurisma é uma dilatação irreversível e ocorre quando o diâmetro da artéria aorta superar a 50% do previsto no segmento analisado. Observa-se o aumento da incidência de aneurismas dissecantes da aorta; provavelmente devido à maior sobrevida da população, à melhoria dos meios diagnósticos, ao maior número de pessoas atendidas pelos serviços de saúde e pelo aumento dos fatores causadores de dissecção. Pacientes com quadro de aneurisma de aorta apresentam prognóstico sombrio, podendo permanecer assintomáticos por anos. Na aorta ascendente, a dilatação progressiva de uma dissecção crônica pode levar à insuficiência valvar aórtica, ou à ruptura espontânea. O tratamento operatório da dissecção aórtica é um desafio para o cirurgião cardiovascular. Relatamos um caso abordando a correção cirúrgica de aneurisma dissecante crônico da aorta ascendente.

The diseases of the aorta with high morbidity and mortality. An aneurysm is a dilatation irreversible and occurs when the diameter of the aorta artery to overcome the 50% of predicted in segment analyzed. There is an increase in the incidence of aneurysm dissecting the aorta; probably due to the greater survival of the population, the improvement of diagnostic means, the greatest number of people served by health services and by the increase of the factors that cause of dissection. Patients with aortic aneurysms have poor prognosis, and may remain asymptomatic for years. In the ascending aorta, the progressive dilatation of a chronic dissection can lead to aortic valve insufficiency, or the spontaneous rupture. The surgical treatment of aortic dissection is a challenge for the cardiovascular surgeon. We report a case dealing with the surgical correction of dissecting aneurysm chronic ascending aorta.

Aneurisma de aorta abdominal infrarrenal. Relato de caso / Infrarenal aortic aneurysm. Case report

Paciente masculino, 57 anos, hipertenso, etilista, ex-tabagista, com quadro anterior de acidente vascular encefálico por aneurisma em artéria cerebral média em 1998. No ano de 2013, com sintomas de cansaço e mialgias, pensava estar com dengue, não suportando ficar de pé devido às dores em membros inferiores. Concomitantemente, apresentou paralisia facial central e perda da força motora em membro inferior direito, sendo internado com diagnóstico de acidente vascular encefálico isquêmico. Constatou-se também isquemia subepicárdica lateral alta ao eletrocardiograma, apesar de o paciente se apresentar oligossintomático sob o ponto de vista cardiovascular, sendo submetido a diversas investigações angiográficas e angiotomográficas, possibilitando o diagnóstico do aneurisma de aorta abdominal infrarrenal silencioso. As inespecificidades e o quadro clínico assintomático da doença são dificuldades comumente encontradas no diagnóstico, tornando-se fundamental a utilização de técnicas complementares de alta complexidade para definição do diagnóstico por imagem. São essenciais as atualizações e pesquisas sobre o presente tema, aumentando a acurácia e a precocidade do diagnóstico, e diminuindo, portanto, a morbimortalidade dos pacientes portadores de aneurisma de aorta abdominal.

Abdominal aortic aneurysm (AAA) is an irreversible aortic dilatation below renal arteries, usually, asymptomatic, showing high morbidity and mortality, becoming relevant this clinical report. Abdominal aortic aneurysm is particularly difficult to diagnose. This study aims to describe in detail the diagnostic process in several levels: syndromic functional, anatomical and etiological and commonly difficulties encountered. Male, 57 year-old, hypertensive, alcoholic and smoker with a previous history of stroke due to middle cerebral artery aneurysm in 1998. In the year 2013 with symptoms of fatigue and muscle pain, thought to have dengue, he wasn't supporting to stand up due to a pain in the lower limbs (LL). Simultaneously he suffered central facial paralysis and loss of motor strength in the right leg. Therefore he was hospitalized with a diagnosis of a new stroke. He showed also high lateral subepicardial ischemia on electrocardiogram, although he had a few atipical cardiovascular symptoms. The patient was submitted to diverse angiographic and angiotomographies investigations, allowing the precise diagnosis of a silent infrarenal Abdominal aortic aneurysm . The authors present a clinical case of infrarenal Abdominal aortic aneurysm, reporting diferentt clinical procedures. The report also discusses the endovascular therapeutic approach and the clinical screening and diagnostic methods. The unspecific and asymptomatic clinical picture of this disease were commonly found difficulties in diagnosis, becoming essential the use of complementary techniques of high definition for diagnostic imaging. Updates are required and research on this topic increasing the accuracy for an early diagnosis and treatment, reducing therefore the morbidity and mortality of these patients.