Browsing by Issue Date, starting with "2021-10"
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- Severe ocular involvement in hereditary gelsolin amyloidosisPublication . Silva, Nisa; Beirão, JoãoHereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9. Although the presenting symptoms were highly suggestive of the disease, reports of severe ocular involvement are scarce in the literature.
- PBPK Modeling and Simulation of Antibiotics Amikacin, Gentamicin, Tobramycin, and Vancomycin Used in Hospital PracticePublication . Ferreira, Abigail; Martins, Helena; Oliveira, José Carlos; Lapa, Rui; Vale, NunoThe importance of closely observing patients receiving antibiotic therapy, performing therapeutic drug monitoring (TDM), and regularly adjusting dosing regimens has been extensively demonstrated. Additionally, antibiotic resistance is a contemporary concerningly dangerous issue. Optimizing the use of antibiotics is crucial to ensure treatment efficacy and prevent toxicity caused by overdosing, as well as to combat the prevalence and wide spread of resistant strains. Some antibiotics have been selected and reserved for the treatment of severe infections, including amikacin, gentamicin, tobramycin, and vancomycin. Critically ill patients often require long treatments, hospitalization, and require particular attention regarding TDM and dosing adjustments. As these antibiotics are eliminated by the kidneys, critical deterioration of renal function and toxic effects must be prevented. In this work, clinical data from a Portuguese cohort of 82 inpatients was analyzed and physiologically based pharmacokinetic (PBPK) modeling and simulation was used to study the influence of different therapeutic regimens and parameters as biological sex, body weight, and renal function on the biodistribution and pharmacokinetic (PK) profile of these four antibiotics. Renal function demonstrated the greatest impact on plasma concentration of these antibiotics, and vancomycin had the most considerable accumulation in plasma over time, particularly in patients with impaired renal function. Thus, through a PBPK study, it is possible to understand which pharmacokinetic parameters will have the greatest variation in a given population receiving antibiotic administrations in hospital context.
- Q Fever: An Emerging Reality in PortugalPublication . Lencastre Monteiro, Rita; Nascimento, Rui; Diogo, Joana; Bernardino, Rita; Nazário Leão, RodrigoQ fever is a zoonosis caused by Coxiella burnetii with worldwide distribution at the increasing expression in Europe and endemic in Portugal. It is transmitted by inhalation of aerosols containing spores, main reservoir being cattle, goats and sheep as by ingesting cottage cheese or unpasteurized milk. The majority of patients are asymptomatic; however, they may present with fever, atypical pneumonia, acute hepatitis, cutaneous manifestations and rarely with cardiac or neurological involvement. Although most cases are self-limited, focal persistent or chronic Q fever can manifest years after the onset, wherefore follow-up is essential. The clinical heterogeneity may be so variable that the disease is often diagnosed only if it has been systematically considered. It should be especially taken into account in the presence of risk factors as valvular or joint prostheses, immunocompromised patients, pregnant women and epidemiological setting. The authors present a rare case of Coxiella burnetii pneumonia with cutaneous and hepatic manifestations without any risk factor. This case aims to emphasize the importance of Q fever in the differential diagnosis of fever or atypical pneumonia, even in the absence of known risk factors. The diagnosis is often challenging for clinicians and it is necessary to maintain a high index of suspicion. In Europe and specifically in Portugal is mandatory to report the cases to establish the real impact of this disease.
- Acinic Cell Carcinoma of the Nasal Lateral WallPublication . Dionísio, Sílvia; Ventura, Eduardo; Gonçalves, Joana; Nobre, Rafael; Marques, HugoPrimary acinic cell carcinoma arising in the nose is exceptionally rare. In this report, we present a unique case of an acinic cell carcinoma of the nasal lateral wall, and it is only the second such case to be reported. We also engage in a systematic review of all 18 cases of acinic cell carcinoma of the nose reported in the literature in English so far.
- Abordagem do Doente com Psoríase pela Medicina Geral e Familiar: Algoritmo de Referenciação e Gestão Partilhada com a DermatologiaPublication . T, Torres; Henrique, Martinha; Oliveira, Hugo; Rodrigues, Madalena; Ferreira, Paulo; Morais, Paulo; Alves, Sérgio; Lopes, Tiago Castro; Cernadas, RuiIntroduction: The implementation of models capable of improving referral quality, limiting the growth of waiting lists in hospitals, and ensuring the best possible treatment and follow-up of the psoriatic patient is of the utmost importance. Material and methods: A panel of Family Physicians and Dermatologists discussed and created a simple and effective algorithm of referral for patients with psoriasis. Results: The proposed algorithm starts when the Family Physician suspects of psoriasis. In case of diagnostic doubt, the patient should be referred to Dermatology. In case of a confirmed diagnosis, the Family Physician should assess the patient's severity and responder profile, evaluate comorbidities and assess the presence of psoriatic arthritis. If psoriasis is mild, topical treatments should be initiated, and if there is no clinical improvement or worsening of the disease, the patient should be referred to Dermatology. If psoriasis is moderate to severe, is located in high impact locations, or in pediatric age, the patient should be referred to Dermatology. In order to enable shared management in terms of follow-up and treatment of these patients, it is critical that the Family Physician has the necessary knowledge regarding the systemic treatments used in psoriasis and their side effects. Discussion and conclusion: Only a shared management of the psoriatic patient can allow for the best treatment and follow-up of these patients, a more rational use of available medical resources, thus giving the patient the best possible quality of life.
- Choroidal Blood Flow After Intravitreal Ranibizumab in Vitrectomized and Non-Vitrectomized Eyes with Diabetic Macular EdemaPublication . Pessoa, Bernardete; Marques, Joao Heitor; Leite, João; Silva, Nisa; José, Diana; Coelho, Constança; Figueira, João P; Meireles, Angelina; Beirão, JoãoAim: Diabetic retinopathy staging system and progression predictors are soon to be considered insufficient for ophthalmologic practice. Given the growing evidence of the role of choroidal dysfunction, our purpose was to assess choroidal vascular changes with intravitreal ranibizumab (RBZ) treatment in diabetic macular edema (DME). Methods: This was a prospective longitudinal cohort study. The study included DME eyes, grouped in vitrectomized (group 1) and non-vitrectomized (group 2) eyes, submitted to RBZ in a pro re nata regimen, with 24 weeks of follow-up. Main outcome measures such as central subfield foveal thickness (CFT), choroidal thickness (CT), and choroidal vascular index (CVI) were obtained from structural OCT, and choriocapillaris flow density (CCD) was obtained from OCT angiography and analyzed before and after treatment. Results: Thirty-one patients were included, 10 eyes in group 1 and 24 eyes in group 2. The mean number of injections was 5.18 (range 2-6). Globally, there was an improvement in BCVA (+4.3 ETDRS letters, p=0.004) and CFT (-84.6 µm, p<0.001) with no changes in CT, CVI, or CCD (p>0.05). When considering only group 2, there was a significant decrease in CT (p=0.033) and a significant increase in CCD (p=0.010) 6 months after treatment, with no differences in CVI (p=0.111). Baseline CVI was correlated with visual acuity at week 24 both globally (r=0.406, p=0.029) and in group 2 (r=0.604, p=0.004). Conclusion: In non-vitrectomized eyes, choriocapillaris blood flow improves with RBZ. Baseline CVI may correlate with visual function after RBZ. ClinicalTrials.gov NCT04387604.
- Genotype-Phenotype Correlations in PMM2-CDGPublication . Vaes, Laurien; Rymen, Daisy; Cassiman, David; Ligezka, Anna; Vanhoutvin, Nele; Quelhas, D; Morava, Eva; Witters, PeterPMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype-phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. We collected the identified genotype, as well as continuous variables indicating the disease severity (based on Nijmegen Pediatric CDG Rating Score or NPCRS) and dichotomous variables reflecting the patients' phenotype. The phenotypic effects of patients' genotype were studied using non-parametric and Chi-Square tests. Seventeen different pathogenic variants have been studied. Variants with zero enzyme activity had no significant impact on the Nijmegen score. Pathogenic variants involving the stabilization/folding domain have a significantly lower total NPCRS (p = 0.017): presence of the p.Cys241Ser mutation had a significantly lower subscore 1,3 and NPCRS (p = 0.04) and thus result in a less severe phenotype. On the other hand, variants involving the dimerization domain, p.Pro113Leu and p.Phe119Leu, resulted in a significantly higher NPCRS score (p = 0.002), which indicates a worse clinical course. These concepts give a better insight in the phenotypic prognosis of PMM2-CDG, according to their molecular base.
- Psychological Morbidity in Endometriosis: A Couple’s StudyPublication . Pereira, Maria Graça; Ribeiro, Inês; Ferreira, Helder; Osório, Filipa; Nogueira-Silva, Cristina; Almeida, Ana C.Endometriosis is a chronic gynecological disease that impacts more than 176 million women worldwide, having a strong impact on psychological morbidity. This study aimed to evaluate the contribution of psychological morbidity, in women with endometriosis, taking into consideration the duration of the couple's relationship and the duration of the disease and also examined whether women's sexual satisfaction had an impact on their psychological morbidity (actor effect) and on their sexual partners' psychological morbidity (partner effect) and vice versa. Participants were 105 women and their partners, who answered the Hospital Anxiety and Depression Scale (HADS); Couple Satisfaction Index (CSI-4) and the Global Measure of Sexual Satisfaction (GMSEX). The results revealed a direct effect between the perception of symptom severity, marital satisfaction, and women's psychological morbidity. Sexual activity and the presence of infertility had an indirect effect on the relationship between sexual satisfaction, diagnosis duration, and psychological morbidity, respectively. Finally, women's sexual satisfaction had a direct effect on their own and their partner's marital satisfaction that predicted less psychological morbidity, in both. Thus, a multidisciplinary intervention focused on the couple's sexual and marital relationship is needed to promote psychological well-being in this population.
- Female preponderance in genetic generalized epilepsiesPublication . Videira, Gonçalo; Gabriel, Denis; Freitas, Joel; Samões, Raquel; Chorão, Rui; Lopes, João; Ramalheira, João; Ramalheira, João E.P.; Lemos, Carolina; Leal, Bárbara; da Silva, António Martins; Chaves, JIntroduction: Epilepsy is more prevalent in men but Genetic Generalized Epilepsies (GGE) seem to be more common in women. A predominant maternal inheritance has been previously described in GGE. Our objective was to determine sex and inheritance patterns in a GGE population compared to mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS). Methods: We performed a prospective observational study including adult GGE and MTLEHS patients followed up at a tertiary epilepsy center from January 2016 to December 2019. Patients' familial history was obtained by a detailed questionnaire. Clinical and demographic data was retrieved from clinical notes. Results: A cohort of 641 patients, 403 with GGE and 238 with MTLEHS, was analyzed. GGE was more common in women than MTLEHS (58.8% vs 44.5%, OR=1.63, p = 0.004). Compared to MTLEHS patients, more GGE patients had familial history of epilepsy (45.4% vs 25.2%; p<0.001). The GGE group had a higher percentage of female relatives with epilepsy (55% vs 37%; p = 0.006). The prevalence of maternal inheritance was not different between GGE and MTLEHS groups (62.9% vs 57.7%; p = 0.596). Photosensitivity was more common in females than in males (44.7% vs 34.3%, p = 0.036). Conclusion: There is a female preponderance in GGE when compared to MTLEHS, as both GGE patients and their affected relatives are more frequently women. The prevalence of maternal inheritance was not higher in GGE than in MTLEHS.