Population wide testing pooling strategy for SARS-CoV-2 detection using saliva.

SARS-CoV-2 pandemic has forced frequent testing of populations. It is necessary to identify the most cost-effective strategies for the detection of COVID-19 outbreaks. Nasopharyngeal samples have been used for SARS-CoV-2 detection but require a healthcare professional to collect the sample and cause discomfort and pain to the individual. Saliva has been suggested as an appropriate fluid for the diagnosis of COVID-19. We have investigated the possibility of using pools of saliva samples to detect SARS-CoV-2 in symptomatic and asymptomatic patients. Two hundred and seventy-nine saliva samples were analyzed through RT-PCR of Envelope, Nucleocapsid and Open Reading Frame 1ab genes. Reproducibility assays showed an almost perfect agreement as well as high sensitivity (96.6%), specificity (96.8%), positive predicted value (96.6%), and negative predicted value (96.8%). The average Cycle Threshold of the genes detected was 29.7. No significant differences (p > 0.05) were detected when comparing the cycle threshold average of two consecutive reactions on the same positive saliva samples. Saliva samples have a higher median viral load (32.6) than in nasopharyngeal samples (28.9), although no significant differences were detected (p > 0.05). Saliva-pool samples allowed effective SARS-CoV-2 screening, with a higher sensibility (96.9%) on 10-sample pools than in 20-sample pools (87.5%). Regardless of pools size specificity was high (99.9%) and an almost perfect agreement was observed. Our strategy was successfully applied in population wide testing of more than 2000 individuals, showing that it is possible to use pooled saliva as diagnostic fluid for SARS-CoV-2 infection.

Thymoma and Tuberculoma: Unexpected Coexistence.

Mediastinal tumours can be incidental findings on chest x-ray or present with systemic symptoms and/or direct effect of the mediastinal mass. We report the case of a woman with symptomatic thymoma B1 and simultaneous thymus tuberculosis. LEARNING POINTS: The association of tuberculosis (TB) of the thymus and thymoma is extremely rare.The differential diagnosis of a mediastinal mass should include TB, particularly in endemic regions.Mediastinal mass resection or biopsy can be of great value in diagnostic work-up.

Pulmonary mucormycosis: A case report.

Mucormycosis is a rare fungal infection caused by Mucorales order fungi. The rhino-cerebral form of mucormycosis is most commonly seen in patients with diabetes mellitus, whereas, pulmonary mucormycosis is a rare manifestation in patients with haematological malignancy and transplant recipients. We report a case of pulmonary mucormycosis presenting with a late acute onset diabetes on a patient immunosuppressed with a low dose of steroids. We aim to illustrate the need for a high clinical suspicion for the diagnosis of mucormycosis and to report the importance of early and aggressive inhiation of antifungal therapy.

Successful Management of Prosthetic Valve Brucella Endocarditis with Antibiotherapy Alone.

OBJECTIVES: To report a case of mechanical aortic prosthesis Brucella endocarditis successfully treated with antibiotics alone.Materials and methods: We describe a clinical case and present a review of the literature. RESULTS: A 60-year-old female farmer with a mechanical aortic prosthetic valve presented with low back pain and fever. She was diagnosed with prosthetic valve Brucella mellitensis endocarditis and was cured with antibiotic therapy alone. Few cases of successfully treated prosthetic valve Brucella endocarditis without surgery have been reported. CONCLUSION: Prosthetic valve Brucella endocarditis usually requires surgical valve replacement. However, selected patients may be successfully treated with antibiotic therapy alone. LEARNING POINTS: Brucella endocarditis is responsible for most fatal cases of brucellosis.Brucellosis relapse after treatment in patients with a cardiac valve prosthesis should arouse suspicion for endocarditis.Long-term medical treatment alone can be successful in selected patients with Brucella endocarditis, even in those with prosthetic valve endocarditis..

Unilateral swollen optic disc: do not forget neurosyphilis.

A 51-year-old man presented with a 3 month history of progressive right visual loss. On examination, the only abnormal findings were a right visual acuity of 4/10 and a swollen right optic disc. The patient had previously undergone MRI that had been reported as being normal and a trial of corticosteroids under the care of the referring ophthalmologist. An extensive battery of blood tests was normal apart from a rapid plasmatic reagin titre of 1:64. ELISA revealed elevated levels of total and immunoglobulin M antibodies against Treponema pallidum. Cerebrospinal fluid analysis revealed a mild leucocytosis and mildly elevated protein content. The patient was treated with a 5 week course of penicillin. Three months after starting treatment, his right visual acuity had improved to 8/10 and his right optic disc swelling had resolved.

Isolated pulmonary valve endocarditis in a normal heart.

Isolated pulmonary valve endocarditis is a very rare entity, usually associated with intravenous drug abuse. We describe a case of isolated pulmonary valve endocarditis in a diabetic patient with no apparent precipitating factors besides a lesion on the right hallux. The clinical course was favorable and he was discharged home after a six-week course of antibiotic therapy.

[Musculoskeletal pain: a case of disease HbSC/alpha-thalassemia]. / Dores osteo-articulares: um caso da doença da HbSC/alfa-talassémia.

Sickle cell disease is an inherited chronic haemolytic anaemia whose clinical manifestations arise from the tendency of the haemoglobin to polymerize and deform red blood cells into the characteristic sickle shape (HbS), with vaso-occlusive phenomena, pain and organ damage. Sickle cell anaemia, the prototype disease, is the homozygous state and represents the most severe form of sickle cell disease. A variety of other sickle cell syndromes are a result of an interaction between HbS and certain variant haemoglobins as HbC and thalassemia. We describe the case of a 28-year-old, black man, with recurrent episodes of musculoskeletal pain. Physical examination revealed spenomegaly. Laboratory tests showed haemolytic anemia and microcytosis. The peripheral blood smear revealed frequent target cells. The high performance liquid chromatography (HPLC) detected the absence of HbA, increased HbA2 and the presence of HbS and HbC, in equal amounts. In this case, we want to draw attention to less common and non-rheumatic causes of musculoskeletal pain as well as alert to the importance of early diagnosis of sickle cell disease that can minimize and prevent many of its complications.

[Hepatic granulomas in a feverish patient]. / Granulomas hepáticos num doente febril.

Fever of unknown origin is a diagnostic challenge. When the diagnosis remains elusive despite extensive non-invasive diagnostic studies, it can be necessary to conduct more invasive procedures, such as liver biopsy. We report a male with fever of unknown origin who had tender enlarged liver and raised liver enzymes whose hepatic biopsy disclosed epithelioid granulomas, with the etiological diagnosis made by the positivity of Coxiella burnetii serology.

[A family with a rare disease]. / Uma família com uma doença rara.

Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now available aims to delay or even avoid the complications of FD. The index case was a 50-year-old man with bone pain since childhood, coarse facies, angiokeratomas, anemia, renal failure, proteinuria, sinus node disease, valvular disease and massive left ventricular hypertrophy and brain ischemic alterations. FD diagnosis was confirmed during hospital admission for bacterial endocarditis leading to death. Family screening revealed an affected brother with acroparesthesia, chronic cough, sinus bradycardia, long QT interval and near-nephrotic proteinuria, now under RERT. Their mother was not screened due to stroke sequelae. This report illustrates the need for early diagnosis, family screening and treatment, aiming to change the natural history of FD.

Heyde syndrome--the link between aortic stenosis and gastrointestinal bleeding.

Aortic valve stenosis can be complicated by gastrointestinal bleeding from angiodysplasia. A deficiency of high molecular weight multimers of von Willebrand factor (vWF) (type 2A von Willebrand disease) provides the link between this association, which is known as Heyde syndrome. Aortic valve replacement corrects the vWF abnormalities with long-term resolution of gastrointestinal bleeding. The authors present a case report and a review of this association.

[Thymus hyperplasia in a patient with antiphospholipid syndrome]. / Hiperplasia do timo em doente com síndrome antifosfolipídico.

Thymus is an important central lymphoid organ that plays a pivotal role in the generation of peripheral T-lymphocytes. Thymoma and thymus hyperplasia have been associated with various autoimmune disorders, mainly myasthenia gravis. There is no established relationship between thymus pathology and antiphospholipid syndrome; however, there are some reported cases of antiphospholipid syndrome associated with myasthenia gravis or following thymectomy. We present the case of a patient with antiphospholipid syndrome and thymic lymphoid follicular hyperplasia. We discuss the association between both entities and suggest a diagnostic approach of a patient with a radiological disorder of the thymus and antiphospholipid syndrome.

[Idiopathic hypoparathyroidism and systemic lupus erythematosus: a rare association]. / Hipoparatiroidismo idiopático e lúpus eritematoso sistémico: associação rara.

A 20-year-old woman was admitted to our hospital after two generalized seizures with severe hypocalcemia. She was diagnosed with Idiopathic Hypoparathyroidism. In the follow-up she was diagnosed with Systemic Lupus Erythematosus (SLE) by the presentation of four criteria of the American College of Rheumatology (ACR) for SLE. This is the sixth reported case of this association.

[Infectious spondylodiscitis: a study of forty-one cases]. / Espondilodiscite Infecciosa: o estudo de quarenta e um casos.

OBJECTIVES: To characterize a series of patients with Infectious Spondylodiscitis (IS). MATERIAL AND METHODS: Retrospective analysis of all cases diagnosed between October of 1999 and April of 2006 in our hospital, by files review. RESULTS: Forty one patients, mean age of 61.2 +- 15.1 years; 26 (63.4%) were male. Thirty two (78.0%) had predisposing conditions or associated diseases and 12 (29.3%) had epidemiological risk. The most frequent clinical manifestations were local pain (97.6%) and general complaints (51.2%). The mean duration of the symptoms was 12.5 weeks. Raised erythrocyte sedimentation rate was the most frequent inflammatory marker. CT-scan was diagnostic in 3 cases and MRI in the remainders. IS was most frequent in the lumbar spine. The etiological agent was isolated in 22 patients (53.7 %) and in 4 (9.8%) the diagnosis was serological. The diagnosis of Pyogenic Spondylodiscitis (PS) was presumed in 21 (51.2%) cases, Granulomatous Spondylodiscitis (GS) in 18 (43.9%) and GS with pyogenic over infection in 2 (4.9%). Fourteen patients had other infectious foci. All patients had antibiotic treatment. Two patients needed abscess CT-scan guided drainage and five needed surgery. Twenty six patients (63.4%) had good evolution and 8 (19.5%) had reasonable evolution; 6 patients had bad evolution (14.6%), dying; one patient was lost for follow-up. Inflammatory markers decreased in the control analysis. CONCLUSIONS: The IS is a diagnostic and therapeutic challenge, being the high index of suspicion of this pathology in the most susceptible patients fundamental for early detection and adequate treatment.

[Spinal epidural abscess due to group C Streptococcus]. / Abcesso Epidural Vertebral a Estreptococo do grupo C.

Spinal epidural abscess is a rare clinical entity, presenting insidiously with nonspecific clinical manifestations. The diagnosis is usually difficult and, if not made early, the consequences may be disastrous. The therapeutic strategy consists of surgical drainage and systemic antibiotherapy for 4 to 6 weeks; in carefully selected patients, the surgical intervention may be avoided. We describe the case of a diabetic woman who presented with a spinal epidural abscess due to Streptococcus equi subsp. zooepidemicus, a group C Streptococcus, treated successfully with parenteral antibiotherapy followed by oral antibiotherapy. Group C streptococci are bacteria typically associated with disease in animals, nowadays emerging as important human pathogens. This is the first reported case of spinal epidural abscess due to a Group C Streptococcus.

[Dural sinus thrombosis]. / Trombose de seios durais.

Dural sinus thrombosis is a rare condition and is often underdiagnosed. Because of its potentially lethal complications, it should always be considered in acute headache differential diagnosis. The authors present a report of two cases, both diagnosed on our department. They make an approach to clinical presentation, diagnosis and treatment of this disease.