Case report: Dopamine Dysregulation Syndrome, mania, and compulsive buying in a patient with Parkinson's disease.

Neuropsychiatric symptoms and syndromes are among the most common non-motor symptoms of Parkinson's Disease but they are frequently unrecognized and untreated. Dopamine Dysregulation Syndrome is an uncommon complication of the treatment of Parkinson's disease, characterized by an addictive use of dopamine far more than the dosage required for treatment of objective motor impairment, leading to severe dyskinesia, euphoria, aggressivity, or psychosis. We present a paradigmatic case of Dopamine Dysregulation Syndrome, Mania, and Compulsive Buying in a 55-year-old male with Parkinson's Disease. We also reviewed the risk factors and the therapeutic management of Dopamine Dysregulation Syndrome in Parkinson's Disease.

Managing antipsychotic-related sexual dysfunction in patients with schizophrenia.

INTRODUCTION: Schizophrenia is a psychotic disorder and one of the most severe and impactful mental illnesses. Sexual dysfunction is highly prevalent in patients with schizophrenia but remains underdiagnosed and undertreated. Sexual dysfunction is frequently attributed to antipsychotics which may reduce medication adherence, but negative symptoms can also reduce sexual drive. AREAS COVERED: This review provides an overview of the current knowledge about sexual dysfunction in patients with schizophrenia. The authors first review the literature concerning the mechanisms of sexual dysfunction and explore the impact of antipsychotics on sexual function. Finally, they present the available non-pharmacological and pharmacological treatment strategies for sexual dysfunction in patients with schizophrenia. EXPERT OPINION: Sexual dysfunction in patients with schizophrenia is still underrated by clinicians despite having a negative impact on the quality of life and therapeutic adherence. Antipsychotic treatment is still perceived as a major cause of sexual impairment. Psychiatrists must be aware of this condition and actively question the patients. A comprehensive approach, addressing pharmacological and non-pharmacological aspects, is fundamental for managing sexual dysfunction in schizophrenia. Pharmacological strategies include (1) Serum-level adjustment of the antipsychotic dose, if possible (2) switching to a well-tolerable antipsychotic (aripiprazole, brexpiprazole) and (3) adding a coadjuvant drug (phosphodiesterase-5 inhibitors).

Life-Threatening Wunderlich Syndrome Associated with Apixaban and the Complexity of Anticoagulation Management in Bleeding Patients: A Case Report.

Wunderlich syndrome is a rare and possibly life-threatening haemorrhagic syndrome presenting as spontaneous nontraumatic renal rupture with subcapsular and perinephric haemorrhage. Apixaban, a direct oral anticoagulant recommended in patients with atrial fibrillation, has previously been associated with atraumatic solid organ rupture but, to date, no case of apixaban-related Wunderlich syndrome has been reported. We report a rare case of Wunderlich syndrome associated with apixaban while addressing the difficulties face by clinicians when managing anticoagulation in bleeding patients.

A síndrome de Wunderlich é uma síndrome hemorrágica rara caracterizada por rutura renal espontânea, não-traumática, com hemorragia subcapsular e peri-renal. O apixabano, um anticoagulante oral direto recomendado em doentes com fibrilação auricular, foi associado no passado a rutura atraumática de órgãos sólidos mas, à data, nenhum caso de síndrome de Wunderlich associada ao apixabano foi reportado. Reportamos um caso raro de síndrome de Wunderlich associada ao apixabano abordando concomitantemente as dificuldades na gestão da anticoagulação em doentes com hemorragia.

Successful treatment of persistent and severe SARS-CoV-2 infection in a high-risk chronic lymphocytic leukemia patient using Ronapreve™ antibodies.

Patients with lymphoproliferative diseases are at an increased risk of an incomplete immune response following vaccination or SARS-CoV-2 infection and might develop persistent viral infection and severe COVID-19 disease. We present a case of successful treatment of persistent and mechanical-ventilation-requiring SARS-CoV-2 infection in a del17+ CLL patient using exogenous antibodies.

Ruptured cerebral mycotic aneurysm, an unusual infective endocarditis presentation

Although septic embolization associated with infective endocarditis is relatively frequent, mycotic cerebral aneurysms are a rare and potentially fatal complication. The authors report the case of a woman admitted with a cerebral haemorrhage due to mycotic aneurysm rupture, which led to a subacute infective endocarditis diagnosis. The patient underwent craniotomy with aneurysm excision and mitral valvuloplasty due to severe valvular insufficiency, with a favorable clinical outcome. The authors make a brief review, highlighting the challenge of the management of these patients, especially at surgical approach, which requires an individualized therapy strategy based on patient evolution

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Catastrophic Gastrointestinal Bleeding: Always Consider Meckel's Diverticulum.

Meckel's diverticulum, a congenital malformation of the gastrointestinal tract, is asymptomatic in the majority of patients but can be associated with some complications. Gastrointestinal bleeding is one such complication and is more common in children than in adults. Despite the variety of examinations available, diagnosis can be difficult, especially in older patients, because the sensitivity of examinations decreases with patient age. Here we present the case of a young man with gastrointestinal bleeding in whom a diagnosis of Meckel's diverticulum was made intra-operatively. LEARNING POINTS: Meckel's diverticulum is more commonly found in children than in adults and can cause gastrointestinal bleeding.The diagnosis of Meckel's diverticulum can be complicated, especially in adults because the sensitivity of examinations decreases with patient age.Despite appropriate diagnostic evaluation, Meckel's diverticulum is sometimes only diagnosed at surgery.

[Thyroid dysfunction and amiodarone]. / Disfunção tiróidea e amiodarona.

Although most patients remain clinically euthyroid, some develop amiodarone-induced hyperthyroidism (HPEAI) or hypothyroidism (HPOAI). The authors present a retrospective analysis of ten patients with amiodarone-induced thyroid dysfunction. Six patients were female and mean amiodarone intake was 17.7 months. HPOIA was more common (six patients). From all the patients with HPEAI, two had type 2, one had type 1, and one had type 3 hyperthyroidism. Symptoms suggestive of thyroid dysfunction occurred in five patients, most of them with HPOAI. In HPEAI, the most frequent symptom was exacerbation of arrhythmia (three patients). Discontinuation of amiodarone and treatment with levothyroxine was chosen in 83.3% of the HPOAI cases, while thyonamide treatment with corticosteroids and without amiodarone was the option in 75% of the HPEAI cases. There were three deaths, all in patients with HPEAI. HPEAI is potentially fatal. The clinical picture may be vague, so the thyroid monitoring is mandatory.

Disfunção tiróidea e amiodarona / Thyroid dysfunction and amiodarone

Apesar de a maioria dos doentes tratados com amiodarona permanecer em eutiroidia, alguns desenvolvem hipertiroidismo (HPEIA) ou hipotiroidismo (HPOIA) induzidos pela amiodarona. Os autores apresentam uma análise retrospectiva dos processos de dez doentes com disfunção tiróidea induzida pela amiodarona. Verificou-se que seis doentes eram mulheres e que o tempo médio de toma da amiodarona foi de 17,7 meses. O HPOIA foi o mais frequente (seis doentes). Dos doentes com HPEIA, dois tinham HPEIA tipo 2, um tipo 1 e um tipo 3. Sintomas sugestivos de disfunção tiróidea ocorreram em cinco doentes, a maioria com HPOIA. No HPEIA, a clínica mais comum foi exacerbação da arritmia de base (três doentes). A interrupção da amiodarona e administração de levotiroxina foi a terapêutica escolhida em 83,3% dos casos de HPOIA, enquanto a tionamida associada a corticoide com suspensão da amiodarona foi opção em 75% dos casos de HPEIA. Registraram-se três óbitos, todos com HPEIA. O HPEIA constituiu uma complicação potencialmente fatal. A clínica pode ser vaga, pelo que a monitorização da função tiróidea é obrigatória.

Although most patients remain clinically euthyroid, some develop amiodarone-induced hyperthyroidism (HPEAI) or hypothyroidism (HPOAI). The authors present a retrospective analysis of ten patients with amiodarone-induced thyroid dysfunction. Six patients were female and mean amiodarone intake was 17.7 months. HPOIA was more common (six patients). From all the patients with HPEAI, two had type 2, one had type 1, and one had type 3 hyperthyroidism. Symptoms suggestive of thyroid dysfunction occurred in five patients, most of them with HPOAI. In HPEAI, the most frequent symptom was exacerbation of arrhythmia (three patients). Discontinuation of amiodarone and treatment with levothyroxine was chosen in 83.3% of the HPOAI cases, while thyonamide treatment with corticosteroids and without amiodarone was the option in 75% of the HPEAI cases. There were three deaths, all in patients with HPEAI. HPEAI is potentially fatal. The clinical picture may be vague, so the thyroid monitoring is mandatory.

[Hypovitaminosis D in patients admitted to an internal medicine ward]. / Hipovitaminose D em Doentes Internados num Serviço de Medicina Interna.

INTRODUCTION: Hypovitaminosis D (hypoD) is a vitamin deficiency that has been rising in the developed countries, due not only to inappropriate eating habits, but also because of lower sun exposure and lack of exercise. OBJECTIVE: To determine the prevalence of vitamin D deficiency and to analyze associated factors, in patients admitted to an Internal medicine Ward. METHODS: Cross-sectional study which included 123 hospitalized patients admitted to an Internal Medicine Ward between April and May. Serum levels of vitamin D [25-hydroxyvitamin D, 25(OH)D] were determined and the sample divided into three groups based on 25(OH)D levels: severe hypoD (<10ng/mL), moderate deficiency of 25(OH)D (>10ng/mL and <20ng/mL) and third group with normal levels of 25(OH)D (>20ng/mL). Demographic variables were recorded as were factors potentially related to vitamin D deficiency. RESULTS: In this sample (52.0% women) the average age was 71 ± 17 years, 67.5% of patients had severe hypoD, 25.2% moderate deficiency and 7.3% normal levels of vitamin D. The patients in the group with severe hypoD were older (p=0.027). In the same group there was a higher percentage of patients in the bedridden state (p=0.022), with higher impaired functional capacity (p=0.009) and with chronic renal insufficiency (p=0.011). In multivariate logistic regression analysis, factors associated with an increased likelihood of severe hypoD were: furosemide treatment [OR=3.673 (1.232-10.956) p=0.020] and albumin ≤3.25 [OR=5.617 (2.257-13.981) p<0.001]. CONCLUSION: The high prevalence of hypoD (67.5%) in this sample expresses the need for systematic evaluation of serum levels of 25(OH)D, in order to initiate early treatment in patients with inadequate levels. Furosemide treatment and hypoalbuminaemia present an increased likelihood of being associated with severe hypoD. Treatment of this hypovitaminosis is warranted not only because of the clinical consequences related to bone loss, but also because of its relationship with hypoalbuminemia which is associated with a poorer prognosis in hospitalized patients.

Predictors of in-hospital mortality in elderly patients with bacteraemia admitted to an Internal Medicine ward.

BACKGROUND: Infectious diseases are a common cause of increased morbidity and mortality in elderly patients. Bacteraemia in the elderly is a difficult diagnosis and a therapeutic challenge due to age-related vicissitudes and to their comorbidities. The main purpose of the study was to assess independent risk factors for in-hospital mortality among the elderly with bacteraemia admitted to an Internal Medicine Ward. METHODS: Overall, a cohort of 135 patients, 65 years of age and older, with bacteraemia were retrospectively studied. Data related to demographic information, comorbidities, clinical parameters on admission, source and type of infection, microorganism isolated in the blood culture, laboratory data and empirical antibiotic treatment was recorded from each patient. Multivariate logistic regression was performed to identify independent predictors of all-cause in-hospital mortality. RESULTS: Of these 135 patients, 45.9% were women. The most common infections in this group of patients were urinary tract infections (46.7%). The main microorganisms isolated in the blood cultures were Escherichia coli (14.9%), Methicillin-resistant Staphylococcus aureus (MRSA) (12.0%), non-MRSA (11.4%), Klebsiella pneumoniae (9.1%) and Enterococcus faecalis (8.0%). The in-hospital mortality was 22.2%. Independent prognostic factors associated with in-hospital mortality were age ≥ 85 years, chronic renal disease, bacteraemia of unknown focus and cognitive impairment at admission (OR, 2.812 [95% CI, 1.039-7.611; p = 0.042]; OR, 6.179 [95% CI, 1.840-20.748; p = 0.003]; OR, 8.673 [95% CI, 1.557-48.311; p = 0.014] and OR, 3.621 [95% CI, 1.226-10.695; p = 0.020], respectively). By multivariate analysis appropriate antibiotic therapy was not associated with lower odds of mortality. CONCLUSION: Bacteraemia in the elderly has a high mortality rate. There are no set of signs or clinical features that can predict bacteraemia in the elderly. However, older age (≥ 85 years), chronic renal disease, bacteraemia of unknown focus and severe cognitive impairment adversely affects the outcome of elderly patients with bacteraemia admitted to an Internal Medicine ward.

The intriguing co-existence of a chronic periaortitis, a pericarditis and a pancreatitis: case report.

Chronic periaortitis (CP) refers to a spectrum of diseases whose common denominator is a fibro-inflammatory tissue developing in the periaortic space and frequently encasing surrounding structures like the kidney and ureters. There is no unified concept regarding the primary aetiology of CP, but recent studies have demonstrated that CP may present features of auto-immune diseases. CP involves three main entities, namely idiopathic retroperitoneal fibrosis (IRF), inflammatory aneurysms of the abdominal aorta (IAAAs) and perianeurysmal retroperitoneal fibrosis (PRF). These entities are usually diagnosed using computed tomography or magnetic resonance imaging, which typically show a retroperitoneal mass surrounding the aorta and that extends laterally without displacing it. Positron emission tomography is useful for the full assessment of the extent of the disease and its metabolic activity. The inflammatory and chronic relapsing nature of these diseases compels the use of medical therapy, which is based on high-dose steroids with a tapering scheme combined with immunosuppressive agents in refractory or relapsing disease. The authors report the clinical and radiological characteristics of a nonaneurysmatic form of chronic periaortitis in a woman presented with pericarditis, pericardial effusion and a pancreatitis. They also describe the investigation and management of this unusual condition.

Apolipoprotein E epsilon-4 polymorphism is associated with younger age at referral to a lipidology clinic and a poorer response to lipid-lowering therapy.

BACKGROUND: The risk of coronary heart disease (CHD) is related to environmental factors and genetic variants. Apolipoprotein E (apoE) polymorphisms are heritable determinants of total and low-density lipoprotein cholesterol, with some authors suggesting an association between the ε4 allele and CHD. We investigated the relationship between apoE genotype and age at referral to a specialized lipid clinic by the primary care physician and whether the benefits of treatment with statin differed between genotypes. METHODS: We assessed individual apoE genotypes and lipid blood profile in a total of 463 patients followed at a specialized lipid clinic due to dyslipidemia, with a 3-year median follow-up time. The primary care physician at the time of the referral had no access to the apoE genotyping results. Carriers of apoE ε4/ε2 genotype were excluded. RESULTS: The frequencies of ε2, ε3 and ε4 alleles were 7.8, 78.9 and 13.3%, respectively. There were no significant differences between genders. Although with similar lipid profiles and antidyslipidemic drug usage at baseline, ε4-carriers were referred to the clinic at a younger age (44.2 ± 14.7 years) compared with non-ε4 carriers (50.6 ± 13.8 years) (p < 0.001), with a substantially younger age of referral for homozygous E4/4 and for all genotypes with at least one copy of the ε4 allele (p < 0.001 for trend). Although both ε4 and non-ε4 carriers achieved significant reductions in total cholesterol during follow-up (p < 0.001 vs. baseline), the mean relative decrease in total cholesterol levels was higher in non-ε4 carriers (-19.9 ± 2.3%) compared with ε4 carriers (-11.8 ± 2.3%), p = 0.003. CONCLUSION: Our findings support the concept that there is a reduced response to anti-dyslipidemic treatment in ε4 carriers; this can be a contributing factor for the earlier referral of these patients to our specialized lipid clinic and reinforces the usefulness of apoE genotyping in predicting patients response to lipid lowering therapies.

An unusual presentation of osteogenesis imperfecta type I.

Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad spectrum of clinical and genetic variability. The genetic diversity involves, in the majority of the cases, mutations in one of the genes that encodes the type 1 collagen protein (COL1 A1 and COL1 A2), but it is not a requirement for the diagnosis. The most benign form is OI type I. The authors present a case report of a 25-year-old woman who had severe low back pain associated with incapacity to walk and breast-feed post-partum. Symptoms developed 2 weeks after delivery. The radiological examination revealed severe osteoporosis with no abnormalities in the laboratory findings. The clinical signs and a positive personal and family history of multiple fractures in childhood suggested OI type I, although other diagnosis, such as pregnancy-associated osteoporosis, was also considered. The atypical presentation of this rare disorder in adulthood calls attention to the need for early diagnosis for prompt treatment. Treatment of OI is never curative, but it improves the quality of the patient's life.

Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.

The Ehlers-Danlos syndrome type IV (EDS-IV) is a hereditary, autosomal dominant disease that causes a defect in the procollagen III synthesis, which results in a structural modification in this protein. An awareness of the disease is of vital importance for the optimal outcome, since the affected individuals have a high risk of vascular, intestinal and uterine rupture. It's a disease with great clinical variability and the diagnosis is confirmed by detection of a mutation in the gene encoding collagen type III. The authors present a case report of a patient who appeared at the emergency ward with acute abdomen and hypovolemic shock after spontaneous aortic rupture. The diagnosis was confirmed after genetic study that identified a mutation in the (c.970G>A) in the COL3A1 gene, only reported once in the literature in a family with internal carotid dissections in some of its members. It's the first time that this mutation is reported in association with the EDS-IV. The authors also make a brief review of the clinical, genetic and molecular characteristics of this syndrome.