A retrospective study was carried out of the ten cases of osteopoikilosis seen at this Orthopedic Unit over a 15-year period in order to determine the reasons why patients seek consultation, preliminary diagnosis, and associated lesions. Eight patients consulted for problems not related to the locomotor apparatus, and diagnosis was by chance; the other two presented joint pain. The preliminary diagnosis was osteoblastic metastasis in five patients and osteopoikilosis in the other five. None of the patients displayed skin or visceral involvement, but three presented bone alterations. Definitive diagnosis was made by measurement of biochemical markers of bone remodeling, radiography of both hands, and bone scan. Bone biopsy was performed in one case. Although rare, the radiographic symptoms of osteopoikilosis are sufficiently specific to avoid false diagnoses, which may give rise to rigorous and expensive studies for other important disorders.

No abstract

RESUMO -A estenose carotídea cervical é uma das causas mais freqüentes de acidente vascular cerebral isquêmico. A endarterectomia de carótida é um tratamento eficaz para lesões estenóticas moderadas e graves, tanto sintomáticas quanto assintomáticas. A endarterectomia realizada sob anestesia local permite a monitorização neurológica do paciente durante o ato cirúrgico. O objetivo deste trabalho foi avaliar as complicações cirúrgicas e acompanhar a evolução dos pacientes submetidos a endarterectomia sob anestesia local em nossa instituição, comparando os resultados com outras publicações. 104 pacientes foram submetidos a 110 procedimentos no período de abril de 1996 a maio de 2002. 64 pacientes eram sintomáticos (61,54%) e 40 assintomáticos (38,46%). Todos possuíam grau de estenose carotídea igual ou superior a 70%. Os pacientes foram avaliados retrospectivamente. O tempo de evolução variou de um a 72 meses (média: 29,5). Três pacientes apresentaram hematoma cervical necessitando drenagem cirúrgica. Dois pacientes (1,92%) tiveram acidente vascular cerebral do mesmo lado da endarterectomia no pós-operatório e outros dois durante o seguimento. Dois pacientes faleceram em decorrência da cirurgia (1,92%). Os resultados desta série, comparados com a literatura, permitem concluir que a endarterectomia é uma forma segura de tratamento para as estenoses carotídeas moderadas e graves. PALAVRAS-CHAVE: estenose carotídea, endarterectomia acidente vascular cerebral, aterosclerose. Carotid endarterectomy under regional anesthesia: follow-up of 104 patientsABSTRACT -Cervical carotid stenosis is one of the main causes of ischemic stroke. Carotid endarterectomy is a safe procedure for treatment of moderate and severe symptomatic and asymptomatic carotid stenosis. Regional anesthesia allows neurological evaluation of the patient during the surgery. We reviewed the results of 104 patients operated on at our institution under regional anesthesia during the period of April 1996 and May 2002. 64 patients were symptomatic (61.54%) and 40 asymptomatic (38.46%). All patients had carotid stenosis over 70%. The patients were followed from one to 72 months (Mean: 29.5). Three patients had cervical hematoma, that required surgical drainage. Two patients had minor stroke at the same side of the endarterectomy at the post-operative period and another two during the follow-up (1.92%). Two patients died due to complications related to the surgery (1.92%). Our results, compared with the literature, show that endarterectomy is a safe procedure to treat moderate or severe carotid artery stenosis.KEY WORDS: carotid artery stenosis endarterectomy, stroke atherosclerosis.O acidente vascular cerebral (AVC) é uma das principais causas de mortalidade e morbidade da população 1 . A estenose carotídea cervical moderada ou grave é causa bem estabelecida de AVC 2 . Estudos multicêntricos em pacientes sintomáticos e assintomáticos comprovam a eficácia da endarterectomia como tratamento para estenoses carotídeas moderadas e graves [3][4][5][6] . O objetivo de...

Background Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study is detail clinical, radiological, neurophysiological, and genetic findings of a Brazilian cohort of patients with a recent described condition known as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency and compare with other cases described in the literature and discuss whether the clinical picture related to SOD1 protein deficiency is a new entity or may be represent a very early-onset form of Amyotrophic Lateral Sclerosis. Methods We conducted a case series report which included retrospective data from five Brazilian patients with SOD1 protein deficiency of a Brazilian reference center for Neuromuscular Disorders. Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. Results All 5 patients presented with a childhood-onset neurodegenerative disorders characterized by spastic tetraplegia with axial hypotonia in all cases, with gestational history showing polyhydramnios in 4/5 and intrauterine growth restriction in 3/5 patients, with most patients initially presenting a normal motor development until the six month of life or during the first year followed by a rapidly progressive motor decline with severe dysphagia and respiratory insufficiency in all patients accompanied by cognitive impairment in 3/5 patients. All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity. Conclusions This case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.

No abstract

No abstract

Background: The olfactory nerve has never been the shining star of neurological examination. Quite the contrary, examining the first cranial nerve is often an overlooked step. As cases of anosmia secondary to COVID-19 infection continue to rise, the 2020 pandemic has shed new light on this much-forgotten nerve, its value as an aid to diagnosis of several diseases and its central role in our daily lives. Objective: We aimed to emphasize how essential and simple clinical examination of the olfactory system can be by highlighting practical techniques and clinical tips for its assessment. We also share pearls and pitfalls in localization and differential diagnosis, which may prove valuable to busy clinicians. Methods: A broad review of the literature was conducted by searching PubMed, Cochrane and Google Scholar for articles and books containing topics regarding examination of the olfactory nerve and its anatomy, physiology and pathology. No particular inclusion or exclusion criteria were used. Results: Forty different works were found, between books and articles, from which 20 were selected after careful analysis. Conclusions: Despite the tragedy and adversity that followed the COVID-19 pandemic, its legacy has taught us a crystal-clear lesson: olfaction should no longer be neglected in clinical practice.

Background:The presence of noncutaneous neoplasms does not seem to increase the risk of cutaneous malignant melanoma; however, it seems to be associated with the development of other hematological, brain, breast, uterine, and prostatic neoplasms. An ecological transversal study was conducted to study the geographic association between cutaneous malignant melanoma and 24 localizations of cancer in forty European countries.Methods:Cancer incidence rates were extracted from GLOBOCAN database of the International Agency for Research on Cancer. We analyzed the age-adjusted and gender-stratified incidence rates for different localizations of cancer in forty European countries and calculated their correlation using Pearson's correlation test.Results:In males, significant correlations were found between cutaneous malignant melanoma with testicular cancer (r = 0.83 [95% confidence interval (CI): 0.68–0.89]), myeloma (r = 0.68 [95% CI: 0.46–0.81]), prostatic carcinoma (r = 0.66 [95% CI: 0.43–0.80]), and non-Hodgkin lymphoma (NHL) (r = 0.63 [95% CI: 0.39–0.78]). In females, significant correlations were found between cutaneous malignant melanoma with breast cancer (r = 0.80 [95% CI: 0.64–0.88]), colorectal cancer (r = 0.72 [95% CI: 0.52–0.83]), and NHL (r = 0.71 [95% CI: 0.50–0.83]).Conclusions:These correlations call to conduct new studies about the epidemiology of cancer in general and cutaneous malignant melanoma risk factors in particular.