Clinics and Practice

Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and targeted next-generation sequencing. Results: A 32-year-old female (patient 1) and 65-year-old male (patient 2) were found to have URP. ffERG showed a non-recordable response in the affected eye and a response within normal limits in the fellow eye of patient 1, while patient 2 showed non-recordable responses in the apparently unaffected eye and a profound reduction in the photopic and scotopic responses in the affected eye. Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%. Segregation analysis was not possible for either of the mutations. Conclusion: This report expands the clinical and molecular genetic spectrum of URP. Full article

The objective of this study was to analyze the effect of hydroxychloroquine or chloroquine associated with azithromycin on the QTc interval in Gabonese patients treated for COVID-19. Methods: This was an observational study conducted from April to June 2020, at the Libreville University Hospital Center in Gabon. Patients admitted for COVID-19 and treated with hydroxychloroquine or chloroquine, each combined with azithromycin were included. The QTc interval was measured upon admission and 48 h after starting treatment. The primary endpoint was QTc prolongation exceeding 60 ms and/or a QTc value exceeding 500 ms at 48 h. Results: Data from 224 patients, 102 (45.5%) who received hydroxychloroquine and 122 treated with chloroquine, were analyzed. The median baseline QTc was 396 (369–419) ms. After 48 h of treatment, 50 (22.3%) patients had a significant prolongation of QTc. This tended to be more frequent in patients treated with chloroquine (n = 33; 27.0%) than in those treated with hydroxychloroquine (n = 17; 16.7%) (p = 0.06). QTc prolongation exceeding 60 ms was found in 48 (21.3%) patients, while 11 patients had a (4.9%) QTc exceeding 60 ms at admission and exceeding 500 ms after 48 h. Conclusion: Early QTc prolongation is frequent in COVID-19 patients treated with hydroxychloroquine or chloroquine in association with azithromycin. Full article

Quality is a multidimensional issue involving various features that depend on service performance and personal assessment. Clarifying the concept of quality is essential in order to further facilitate the understanding and improvement of quality in healthcare. The purpose of this study was to investigate how clinical nurses, providing care to adult medical patients, perceive and define the concept of quality nursing care. A descriptive qualitative research design was applied. A purposive sampling strategy was used to recruit nurses from the clinical sector of a general public hospital in Athens, Greece. Ten female nurses from the medical sector participated the study. Data collection was conducted through in-depth, semi-structured interviews. Conventional content analysis was used to analyze the verbatim data. Four categories were revealed from the data analysis, namely: (a) “Quality care is holistic care”, (b) “Good care is an interpersonal issue”, (c) “Leadership is crucial”, and (d) “Best care is our responsibility”. Quality care was defined as holistic care, addressing all patient needs with competency and aiming for the best patient outcomes. It was associated with communication, teamwork, good leadership, and personal commitment. By developing an in-depth and mutual understanding about what quality means, nurse leaders and practitioners may collaborate in finding common paths to support quality interventions and enhance quality nursing care in clinical practice. Full article

Diabetic retinopathy is a vascular disease of the retina that affects patients with uncontrolled diabetes. Untreated diabetic retinopathy (DR) can eventually lead to blindness. To date, diabetic retinopathy is the third leading cause of vision loss in the working class globally. Frequent retinal screening for all diabetic people is an effective method of preventing diabetic retinopathy blindness. This has relied on the use of ophthalmologists, but due to scarce resources, such as a shortage of human resources for eye health, this has denied many patients quality eye health care in a resource-limited setting. The recent advances on the use of teleophthalmology are promising to close this gap. This study aimed to map available evidence on the use of teleophthalmology in the screening of DR globally and to explore how this can be used to complement short-staffed eye clinics, especially in resource-constrained contexts. Studies were sourced from Google Scholar, PubMed, Science Direct, and EBSCO host. The final study selection was presented using a PRISMA chart. The mixed method appraisal tool was used to assess the quality of the nine studies included. The random effect model was used to estimate pooled prevalence estimates. Levels of heterogeneity were evaluated using Cochran’s Q statistic and I². Of nine included studies, eight were from high-income countries. The screening was performed at the primary healthcare level in eight of nine included studies. Only one study used a mydriatic agent, and the commonly used fundus camera was the non-mydriatic fundus camera. The overall estimated pooled prevalence of DR was 29 (95%CI: 10–34). Teleophthalmology at the primary health care level showed that early intervention in diabetic retinopathy reduced avoidable blindness and ensured remote access to eye health professionals, thus alleviating the burden on them. Full article

Lumboperitoneal shunt (LPS) implantation is a cerebrospinal fluid diversion therapy for the communicating type of normal-pressure hydrocephalus (NPH); NPH mainly affects older adults. However, endotracheal intubation for mechanical ventilation with muscle relaxant increases perioperative and postoperative risks for this population. Based on knowledge from nonintubated thoracoscopic surgery, which has been widely performed in recent years, we describe a novel application of nonintubated anesthesia for LPS implantation in five patients. Anesthesia without muscle relaxants, with a laryngeal mask in one patient and a high-flow nasal cannula in four patients, was used to maintain spontaneous breathing during the surgery. The mean anesthesia time was 103.8 min, and the mean operative duration was 55.8 min. All patients recovered from anesthesia uneventfully. In our experience, nonintubated LPS surgery appears to be a promising and safe surgical technique for appropriately selected patients with NPH. Full article

Background: Crohn’s and Ulcerative Colitis Questionnaire-32 (CUCQ-32) is a validated questionnaire to measure the quality of life (QoL) in Inflammatory Bowel Disease (IBD). However, it does not have stoma-specific questions and can be lengthy. This study aimed to validate a subset of the CUCQ-32 that would be suitable for patients with a stoma. Methods: Baseline data were collected from a cohort of patients with acute ulcerative colitis who were participating in the CONSTRUCT multicentre clinical trial. A subset of the CUCQ-32 questions was selected by stepwise regression. Further validation was examined using data from the UK IBD biological therapies audit. Construct validity was carried out using the EuroQol 5 dimensions (EQ5D) questionnaire, Simple Clinical Colitis Activity Index (SCCAI), and the Harvey–Bradshaw Index (HBI). Results: Using the data from 124 patients, a short-version questionnaire (CUCQ-12) was developed. Data from 484 patients with IBD (382 patients with Crohn’s disease, 76 patients with ulcerative colitis, and 26 patients with IBD-Unclassified) and 61 patients with stoma provided further validation of the CUCQ-12. A literature review and an expert focus group identified supplementary stoma-specific questions for the CUCQ-12+. The CUCQ-12+ demonstrated excellent internal consistency (Cronbach’s α = 0.86); established effective reproducibility (intra-class correlation coefficient = 0.74); correlated well with the EQ5D (r= −0.48), HBI (r = 0.45), and SCCAI (r = 0.43); and represented good responsiveness statistics (>0.5). Conclusions: CUCQ-12+ is a valid and reliable QoL measure used for all patients with IBD in clinical practice, including patients with a stoma. Full article

Dynamic knee valgus (DKV) is a frontal plane knee kinematic alteration that has been associated with patellofemoral pain (PFP) in female runners. DKV is commonly assessed in clinical practice by measuring frontal plane knee projection angle (FPPA) during squat tests. However, it remains unclear whether the DKV observed in these tests is similar to or correlates with that observed during running in female runners. The aims of this cross-sectional study were to correlate and compare DKV, by measuring FPPA values, in a lateral step-down (LSD) squat test and running in female runners with and without PFP. A two-dimensional (2D) video analysis of the LSD test and running was carried out for 21 asymptomatic female runners and 17 PFP female runners in order to determine FPPA values. A Pearson correlation test and a factorial ANOVA with Bonferroni post hoc correction were used for statistical analysis. The FPPAs recorded in the LSD test were significantly higher than those recorded during running in the asymptomatic (16.32° ± 5.38 vs. 4.02° ± 3.26, p < 0.01) and PFP groups (17.54° ± 7.25 vs. 4.64° ± 3.62, p < 0.01). No significant differences were found in FPPA values between asymptomatic and PFP runners during the LSD test (16.32° ± 5.38 vs. 17.54° ± 7.25, p = 0.55) and running (4.02° ± 3.26 vs. 4.64° ± 3.62, p = 0.58). There was a small (r < 0.3) and non-significant (p > 0.05) correlation in FPPAs between the LSD test and running in both groups. According to our results, DKV was not similar during the LSD test and running, and there was no significant correlation in FPPA values between the LSD test and running in both groups. Therefore, clinicians and therapists should be aware of these findings when using the LSD test in clinical practice to evaluate DKV in female runners with or without PFP. Full article

Lung cancer is the leading cause of cancer-related deaths. Surgery remains the best option to treat lung cancer when feasible. However, many cases are diagnosed beyond the initial stages. There has been tremendous progress in the treatment of lung cancer over the last few years. Studies have shown that biomarker-driven targeted therapies lead to better outcomes. Due to the technical difficulties and significant procedural risk associated with repeated tissue biopsies, analysis of tumor constituents circulating in the blood, such as circulating tumor DNA (ctDNA) and various proteins, is becoming more widely recognized as an alternative method of tumor sampling, i.e., liquid biopsy. Liquid biopsy is superior to tissue biopsy, as it is minimally invasive and easily repeatable. Given the recent data on changes in mutations as the disease progresses or responds to treatment, liquid biopsies can help monitor the changes and guide us in giving targeted drugs. Here we present a case of advanced NSCLC who was initially started on Alectinib based on positivity for ALK gene rearrangement found in the FISH study. At the time of progression, molecular profiling liquid biopsy was obtained, which revealed KRAS-p.G12C mutation. Thus, the patient’s therapy was later on changed to sotorasib after the FDA approved a KRAS-p.G12C mutation inhibitor. Full article

Objective: The objective of this study is to further highlight the differences between different ABO blood groups and Rhesus types with health biomarkers. Methods: In total 150 active healthy blood donors participated in our study comprising of 80 males from 19–61 years and 70 females aged from 21 to 64. Participants carrying blood group A were 55 individuals, blood group B 32, blood group O 51, and blood group AB 12, RHD+ 132, and RHD- 18. All the volunteer regular blood donors were selected recognizing them as a healthy population excluding drug and supplements intake. Their blood samples were analyzed just before blood donation for biochemical, hematological, and antioxidant markers. Statistical computations were performed using the SPSS tool, specifically, the one-way ANOVA test, Chi-square statistics, and logistic regression were used as statistical models. Results: O blood donors presented better iron absorption and the worst lipid profile. Indeed, a significant trend of high atheromatic index values revealed an increased risk for hyperlipidemia, in contrast with blood group A presenting a better lipid profile with lower atheromatic index values. There was also a gender related association for blood group A compared with O that was further highlighted using binary logistic regression. Conclusion: In this study, a significant difference was observed among the ABO blood groups in several of the examined biochemical and hematological biomarkers. O blood group appeared different behavior in comparison to all the tested blood groups and furthermore the RHD-group presented a better lipid profile in comparison to the RHD+ group. In order to obtain a more comprehensive view of the correlation between the ABO blood group and biochemical markers, further studies are required. Full article

A split-thickness skin graft (STSG) is one of the main tools used in the reconstruction of skin defects. Negative-pressure wound therapy (NPWT) has been widely used as adjunct therapy for wound healing for decades. Few studies have conducted the outcomes of NPWT use as a postoperative dressing for STSGs. This study aimed to compare the outcomes of the application of NPWT versus conventional dressing on STSGs after soft-tissue reconstruction. A prospective observational study was performed at the King Abdullah Medical City. A total of 18 patients with STSGs for acute or chronic skin defects were recruited. Patients from the two groups—10 patients in the NPWT group and 8 in the No-NPWT group—were postoperatively evaluated for three weeks. Assessment included the STSG take rate, wound healing, pain, infection, hematoma formation, and the need to re-graft the same recipient area. Our data demonstrated a higher mean skin graft take rate in the second and third weeks of the No-NPWT group compared to the NPWT group, but it was not statistically significant (p > 0.05). No significant differences between the two groups in terms of wound healing, pain, infection, hematoma formation, and the need to re-graft (p > 0.05) were found. Our study showed that the conventional dressing of STSGs is not inferior to NPWT. In addition, conventional dressing was shown to be easier to use and less expensive to apply, as well as having a higher skin graft take rate and lower infection rate. Full article

Background: “The effective treatment of Heart Failure (HF) involves care with food intake. Recently, the Ministry of Health created the Brazilian Cardioprotective Diet and its dietary index, BALANCE, which assesses adherence to the standard’s recommendations”. Methods: This observational prospective study is part of the Congestive Heart Failure Registry (VICTIM-CHF) of Aracaju/SE. Observations and data collection took place from April 2018 to February 2021. Sociodemographic and clinical aspects and food consumption were evaluated. Food intake was determined using the food frequency questionnaire. Foods were categorized using the BALANCE dietary index into green, yellow, blue and red food groups. The BALANCE dietary index was obtained using median and interquartile ranges, scores of the Mann–Whitney U test, and associations between clinical variables and the index, through linear regression. Results: Participants included 240 patients with HF (61.12 ± 1.06 years), who were assisted by the Unified Health System (67.5%). Individuals with a partner showed greater adherence to the green food group recommendations (0.09; 0.00–0.17). The lowest adherence to recommendations regarding the blue food group was observed in individuals with excess weight, who had a higher consumption of foods rich in animal protein (0.54; 0.38–0.78). As for the red food group (ultra-processed foods) the highest adherence was observed by patients with diabetes mellitus (0.41; 0.05–0.77). The greatest adherence to the yellow food group, and a higher score, was observed in patients with the smallest left ventricular systolic diameter (LVSD). Conclusions: Being married was directly associated with the consumption of foods in the green group, while being overweight and having diabetes were inversely associated with adherence to the blue and red food groups, respectively. Greater adherence to the yellow food group recommendations was inversely associated with less change in the DSFVE. Full article

Health systems are becoming more complex, regulatory bodies are increasing their vigilance, and reimbursement practices are shifting toward value, making closing the referral loop an imperative for patient safety, regulatory oversight, and financial viability. The aim of this study was to examine the referral pattern in PHC services and whether a significant variation exists among them based on geographic accessibility to a referred hospital. This was a cross-sectional retrospective study that included all sequentially referred patients between 1 January 2019 and 30 December 2021. A pre-initiative comparison could not be performed, as previous data on the traditional referral system could not be collected. The primary outcome measures considered in this study were the referral rate, and the proportion of the documented appointment date. The healthcare facilities’ geographic locations and data of the hospital departments to which the patients were referred were also available. Between 2019 and 2021, the hospital received 52,143 referrals from the 9 designated PHC centres covering 34 districts. In the PHC centres located within the ≤13 km zone, 1 in every 14 patients were referred to the hospital, whereas 1 in every 20 patients visited PHC centres outside this zone. Since the introduction of the Ehalati e-referral system, the number of documented appointment schedules of the referred patients has improved over time by 16.1% (from 79.6% to 95.7%, p < 0.001). Ophthalmologic (17.1%) and dental services (15.4%) received the most referrals among all other specialties, whereas the referral rate for cardiology services was the lowest (2.5%). The documented appointment scheduling record of referred patients has improved significantly since the introduction of the Ehalati e-referral system. However, the results of this study indicate that the proximity of PHC centres to specialised hospitals is more likely associated with higher referral and documented appointment scheduling rates. Strategies that improve scheduling, decrease variation among clinics, and improve patient access will likely improve the closing rates of the referral loop. Full article

The devastating COVID-19 pandemic has created several gaps in the management of viral infections, leaving biocontainment and supportive measures as the only resorts for control. As such, there has been a dramatic increase in the use of dietary supplementations and herbal medicine for COVID-19. However, serious concerns regarding the efficacy, safety, and recommended doses of these medicines have been raised. In this study, we aimed to assess the population knowledge about alternative medicine administration for COVID-19 and the associated factors. Using a self-administered cross-sectional survey, we analyzed a total of 2042 valid responses. Most of the included participants were females (69.7%), with an overall mean age of 20.8 ± 11.8 years. Most respondents (62.8%) obtained their knowledge from social media while only 16.6% received knowledge from the health care workers. Half of the participants (50.6%) correctly identified all COVID-19 symptoms, where fever (18.5%) and loss of smell and taste (17.1%) were the most frequent answers. On the use of traditional medicines and supplements for COVID-19, 57.8% did not answer, 23.7% admitted regular use, and 18.5% used sometimes. Family members or friends suggested the use of traditional medicines and dietary supplements to 28.0% of the participants while only 14.7% were advised by a nutritionist, physician, pharmacist, nurse, or a health worker. Moreover, seniors and illiterate portions of society had lower knowledge scores and increased utilization of alternative medicine. Marital status, income, and previous COVID-19 were all significant predictors of the awareness and knowledge score. Thus, this study has identified overuse of unregulated medicinal products in the region, which potentially aggravates COVID-19 or other underlying risks of the disease, making clinical management challenging, particularly in geriatrics and women’s health. Regulation of medicinal products and establishment of educational campaigns about the disease have become imperative. Full article

The aim of this study is to show the usefulness of collaborative work in the evaluation of prostate cancer from T2-weighted MRI using a dedicated software tool. The variability of annotations on images of the prostate gland (central and peripheral zones as well as tumour) by two independent experts was firstly evaluated, and secondly compared with a consensus between these two experts. Using a prostate MRI database, experts drew regions of interest (ROIs) corresponding to healthy prostate (peripheral and central zones) and cancer. One of the experts then drew the ROI with knowledge of the other expert’s ROI. The surface area of each ROI was used to measure the Hausdorff distance and the Dice coefficient was measured from the respective contours. They were evaluated between the different experiments, taking the annotations of the second expert as the reference. The results showed that the significant differences between the two experts disappeared with collaborative work. To conclude, this study shows that collaborative work with a dedicated tool allows consensus between expertise in the evaluation of prostate cancer from T2-weighted MRI. Full article

In this convergent mixed-methods study, the aim was to explore how objective and subjective quality ratings of school nurses’ motivational interviewing (MI) correlate whilst also considering the perceptions of delivering and participating in the same MI sessions. Quantitative and qualitative data were derived from seven intervention schools participating in the Healthy School Start Plus parenting support intervention. School nurses were trained in MI and conducted an MI session with parents of 6–7-year-old children to discuss children’s physical health and development. Quantitative data comprised objective ratings of school nurses’ MI competence using the Motivational Interviewing Treatment Integrity 4.2 [MITI-4] protocol, as well as parents’ and school nurses’ subjective ratings of the MI sessions. Qualitative data comprised semi-structured interviews with parents and school nurses about their perceptions of the MI sessions. First, quantitative data were analysed using Spearman’s rank correlation, and qualitative data were analysed using content analysis. Next, quantitative and qualitative findings were merged. Our findings suggest that school nurses’ MI performances were rated and perceived as valuable and family-centred by both school nurses and parents who had left the meeting feeling motivated and empowered to promote their children’s healthy behaviours. Nonetheless, school nurses were critical to their own MI technical performance, and they found that reflections were easier to deliver and to self-rate. Overall, MITI ratings were the lowest and parents’ ratings were the highest. Future studies should focus on relating clients’ subjective ratings of MI with clients’ behavioural outcomes. Full article

Idiopathic scoliosis is a condition characterized by a three-dimensional curvature of the spine. However, in addition to the spinal curvature, it has also been reported that patients with idiopathic scoliosis can display other abnormal physiologic parameters, such as hormone imbalances, genetic variants, and micronutrient deficiencies. The present study evaluates the salivary progesterone levels from a historical cohort of patients seeking treatment at a single integrative medicine clinic. A group of female patients with a history of idiopathic scoliosis is compared to a group of non-scoliosis female patients. Salivary progesterone levels were 49% higher in non-scoliosis patients compared to the scoliosis group (p < 0.05). When compared by the menstrual cycling status, non-scoliosis females had a 60% higher average progesterone level, while the progesterone level among non-cycling, non-scoliosis females was 39% higher than non-cycling scoliosis females. These results suggest a potential relationship between salivary progesterone and idiopathic scoliosis among female patients. Full article

Significant anti-spike protein receptor-binding domain (S-RBD) antibody responses have been demonstrated in patients with chronic disorder of consciousness (DOC) completing a COVID-19 vaccine regime with BNT162b2 (Pfizer–BioNTech). We now provide further prospective data on the immunogenicity of these patients followed by heterologous booster injection with mRNA-1273 (Moderna). These patients were compared with two different demographically comparable healthcare workers (HCW) groups who underwent homologous booster injection with BNT162b2 vaccine or heterologous booster injection with mRNA-1273. Antibody responses were evaluated at 21 days after the administration of the booster dose of vaccination. Results: No severe adverse reactions were reported after each type of vaccination. Heterologous boosting with mRNA-1273 elicited a higher increase of S-RBD IgG levels than homologous boosting with BNT162b2 both in DOC patients and HCW who had previously received two doses of BNT162b2. No significant difference was detected between DOC and HCW patients who received heterologous boosting. Conclusions: Despite the small sample size, our preliminary results suggest that heterologous boosting with mRNA-1273, following initial vaccination with BNT162b2, is safe and tends to be more immunogenic than homologous boosting, either in fragile people or in healthy controls. Full article

Background: Treatment of high blood pressure is a combination of lifestyle changes and medications, and appropriateexercise therapy is recommended as one of the lifestyle-related changes. Recently, stretching, a low-intensity exercise, was reported to be antihypertensive and effective for improving arteriosclerosis, in addition to aerobic exercise. The present study investigated the short-term effects of continuous stretching and rest-induced rebound on vascular endothelial function in hypertensive patients. Methods: This study was conducted as a single-arm prospective interventional study including patients between 30 and 70 years of age undergoing treatment for hypertension from October 2019 until May 2021. The intervention consisted of six months of daily stretching, one month of rest, and another three months of stretching. We measured arteriosclerosis indices such as cardio ankle vascular index (CAVI), ankle brachial pressure index (ABI) and reactive hyperemia index (RHI), and flexibility at the baseline and one, three, six, seven, and ten months from the baseline. Results: We included a total of ten patients (three males and seven females) with an average age of 60.10 ± 6.05 years. The exercise rate for the entire period was 90% or more, and the anteflexion measurement value improved significantly before and after the intervention (p < 0.001). Blood pressure and CAVI/ABI were well controlled throughout the study period. RHI did not show any significant improvement during the initial six months, and only slightly improved by the third month (p = 0.063). Even after the rest phase and resumption of stretching, RHI remained stable. Conclusions: The compliance of the stretching program we used, evaluated by the exercise implementation rate for the entire period, was 90% or more; therefore, easy to perform and continue by hypertensive patients. However, we did not observe a significant positive effect on arteriosclerosis index or blood pressure in this study. Full article

Recently, the genetic background of pheochromocytomas/paragangliomas (PPGLs) has been rapidly revealed. These tumors have been referred to as the “ten percent tumor”; however, the frequency of genetic variants of PPGLs has turned out to be more common than expected. PPGLs are potentially hereditary tumors and appear clinically sporadic. Here, we report a case of bilateral pheochromocytoma (PCC) with a variant in the MYC-associated factor X (MAX) gene (c.295 + 1G > A). A male patient was diagnosed with adrenal pheochromocytoma (PCC) and underwent a left adrenalectomy at the age of 40. A new tumor in the right adrenal gland was detected at the age of 43. Urinary metanephrine and normetanephrine concentrations gradually increased. The size of the right adrenal PCC continued to increase one year after detection. Genetic testing of the peripheral blood revealed the presence of a pathogenic variant in MAX. The natural history of adrenal PCCs with the MAX variant has not yet been clarified, because the number of reported cases is not sufficient. Thus, clinicians should consider a MAX variant when they find bilateral or multiple PCCs. Full article