Articles

Background: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and is the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristics from the phenotypic manifestations only. Case report: We present a case of a newborn baby girl, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnosis of Apert Syndrome.

We describe the first individual treatment trial with D-mannose in a young girl with PIGV-CDG. PIGV-CDG belongs to the GPI anchor deficiencies leading to intellectual disability, dysmorphic features, epilepsy, and, less frequently, organ malformations. A hallmark of the GPI anchor deficiencies is the elevated serum alkaline phosphatase (AP). Our patient carried the germline homozygous PIGV variant c.1022C>A, p. (Ala341Glu), the most commonly reported pathogenic variant leading to PIGV-CDG so far. We aimed to improve the impaired enzymatic function of PIGV through elevated substrate levels by giving D-mannose orally. We monitored the clinical status, developmental progress as well as serum AP levels. Our patient experienced no side effects. Standardized developmental testing showed better developmental progress during the 21-month treatment period with D-mannose than in the 12 months following the discontinuation of treatment. The D-Mannose treatment might have had a positive effect on the development of our patient with PIGV-CDG.

Penile cancer, a rare but highly morbid disease, primarily manifests as squamous cell carcinoma (PSCC) originating from the squamous cells of the glandular and preputial skin. Late-stage diagnosis is common due to social stigma, psychological barriers, and nonspecific initial symptoms, resulting in poor overall survival rates, especially in metastatic cases. This case report illustrates a 38-year-old man with advanced metastatic PSCC, showcasing severe systemic manifestations and delayed presentation of the disease. Despite aggressive treatment options, the patient opted for palliative care, succumbing to the disease months after his diagnosis. Risk factors for PSCC include HPV infection, phimosis, chronic inflammation, and lifestyle factors, with higher prevalence in regions of low socioeconomic status. The psychological and sexual burden of penile cancer is significant, impacting patients’ well-being, mental health, and quality of life. In conclusion, efforts to reduce the stigma associated with penile cancer are crucial to prompt early diagnosis and treatment initiation. Encouraging seeking medical attention for symptoms can enhance the chances of recovery and minimize the need for invasive treatments. Addressing the psychosocial impact of the disease is imperative for holistic patient care.

Introduction: Bleeding from varices is a severe complication in patients with cirrhosis. Despite its treatment has been well established in the last three decades the mortality can be still high. This study compares the epidemiological features and the bleeding-related outcomes of a group of patients published about ten years ago with a more recent group of 168 consecutive patients. Methods: The diagnosis, the treatment, and the main outcomes (5-day failure, 5-day and 6-week rebleeding, 5-day and 6-week mortality) of variceal bleeding were evaluated according to the current guidelines.Results: The number of patients with cirrhosis admitted for variceal bleeding every year has progressively decreased in the last ten years. The age sex and severity of liver disease, evaluated with Child Pugh and MELD scores, were comparable in the two series. In the more recent series, there were significantly fewer patients with HCV infection and more patients with alcohol-related cirrhosis. The main outcomes of bleeding were comparable too. Overall, at 6 weeks 36.4% of patients did not overcome the bleeding episode. Conclusion: The decreasing incidence of bleeding from varices is likely attributable to antiviral treatment of HCV and HBV and the larger diffusion of beta-blockers in primary prophylaxis. Despite the larger application of the gold standard therapy, the mortality of variceal bleeding remains high in patients with cirrhosis.

Background: Clinician managers can play a crucial role in healthcare organizations, including hospitals, by combining their clinical expertise with managerial responsibilities. They bring valuable insights and firsthand experience of patient care to managerial positions, contributing to improved patient outcomes and hospital performance. However, they face unique challenges that require careful attention and solutions. Aim: This review aims to critically discuss the role of clinicians as managers, the challenges that they face, and how they exercise their influence in hospital settings. Key findings: The role of clinicians as managers is critical for effective leadership and delivery of high-quality patient care. Described as a two-way window, clinician managers bridge the gap between medicine and management by combining clinical expertise with managerial skills in a hybrid leadership approach. Studies have shown a positive impact on hospital performance, including enhanced quality care, improved patient outcomes, and potentially better financial performance. In addition, they play a vital role in fostering interdisciplinary collaboration and boosting staff engagement. However, challenges such as identity conflicts, and limited formal training, are present, especially for first-time managers. Conclusion: Adapting to the dual role of clinician and manager demands a mindset shift and the development of new skills, necessitating strategic support. This includes leadership education, organizational support, mentoring, and collaborative models to empower clinician managers. Targeted training programs, formal mentoring, and peer support networks equip them with essential skills, while workload management, well-being initiatives, and a culture of balance foster success and growth.

Introduction: In Sudan, Grewia tenax fruits, are known commonly as Goddaim. The fruit’s pericarp is used traditionally for a long time as a juice or a porridge to treat iron deficiency anemia (IDA). Traditional Goddaim users have a very strong belief in its effectiveness. However, the pattern of hemoglobin improvement follows an initial fast increase followed by a decline upon continuing its use. Some previous studies have attributed its effect to high iron content, while the iron quantity was too small. This work attempts to find an explanation for its mechanism of action by screening the fruit extract and its respective fractions for secondary metabolites, minerals, vitamins, and fibre. Methods: Entailed three methodologies: Chemical analysis to identify quantified minerals, ascorbic acid and non-digestible fibers, Phytochemical Analysis to separate and identify secondary metabolites using high-performance liquid chromatography coupled to tandem mass spectrometry (HPLC-MS-MS technique), and estimation of radical scavenging activities of crude fruit extract and its respective chloroform and ethyl acetate fractions by inhibition of the 2,2-diphenylpicrylhydrazyl (DPPH).Results: Ascorbic acid and indigestible fibres were revealed in the aqueous extract. Secondary metabolites were flavonoids (e.g., quercetin, kaempferol), organic acids (e.g., ferulic acid, chlorogenic acid), β-carboline alkaloids (e.g., 3-hydroxy-tetrahydroharman) identified in the chloroform, and ethyl acetate fractions. The in vitro antioxidant activity of G. tenax fruit extract was confirmed spectrophotometrically. Conclusion: It can be concluded that the initial enhancement of iron absorption through ascorbic acid and fibres, followed by iron uptake inhibition, could be explained by iron chelation by the chelators in the fruits. This paradoxical effect may qualify G. tenax fruits as a safety gauge for improving haemoglobin levels without compromising iron excess once iron stores are filled by keeping the oxidative stress in check. This may present G. tenax fruits as a good and safe remedy that optimizes the treatment of IDA.

Background: Wernicke encephalopathy is an acute neurological condition defined by a clinical triad of ophthalmoplegia, ataxia, and confusion. This disease is due to thiamine deficiency.Case presentation: After persistent diarrhea and vomiting, a 15-year-old boy presented up-beating nystagmus, with binocular vertical diplopia and unstable gait. An etiological workup revealed a celiac disease. Magnetic resonance imaging showed bilateral periaqueductal region lesions. Treatment and discussion: Because of suspected Wernicke’s encephalopathy, the patient was treated with thiamine replacement and significant improvement of symptoms took place. Wernicke encephalopathy is a serious medical disorder with enormous morbidity and mortality. Evaluation should include patient history with a physical and ophthalmologic examination and laboratory workup with appropriate imaging.Conclusion: Undiagnosed celiac disease can lead to malabsorption of vitamin B1 causing acute symptoms of Wernicke encephalopathy.

Bone choristoma within a dermolipoma is a rare epibulbar tumor with a low prevalence. It is a benign tumor that does not usually cause discomfort or functional problems to patients who suffer from it. Its treatment is surgical and with an aesthetic purpose.We report the case of a 17-year-old patient with a bone choristoma, a tooth, within a dermolipoma.Epibulbar bone choristoma is a rare benign tumor that causes little discomfort to patients who suffer from it and is asymptomatic in most cases. Computed tomography (CT) is essential in its diagnosis and its treatment is surgical, but always due to aesthetic reasons.

Bronchiolitis is one of the most common respiratory infections in children under 2 years of age predominantly caused by Respiratory syncytial virus and other viruses like influenza, Para influenza, and Adenovirus. Rhinovirus, etc. Most children have mild symptoms however bronchiolitis has also been well linked to severe morbidities and mortalities. Even though bronchiolitis has been well recognized for many years, there are still very few therapeutic strategies available beyond supportive management. There are many controversies about therapeutic management in bronchiolitis published in standard guidelines and research in this area. Management can be divided into pharmacological and supportive therapy. Evidence suggests that the current management of bronchiolitis is purely supportive consisting of oxygen supplementation, frequent suctioning, and maintaining good hydration and nutrition. Regarding pharmacological therapy, neither bronchodilators nor corticosteroids have significant efficacy in the treatment of bronchiolitis. However, some studies suggest that adrenaline and nebulizer 3% saline showed some benefit only in terms of outcome. The current recommendation also supports the use of Palivizumab as prophylaxis in certain groups of infants and young children.

Background: Revascularization procedures for chronic complete occlusion (CTO) are technically challenging but aim to improve left ventricular (LV) function. The aim of this study is to evaluate the value of global longitudinal strain (GLS) measured by 2D-speckle tracking echocardiography( 2D-STE) in the assessment of LV reverse remodeling in patients with CTO undergoing revascularization by percutaneous coronary intervention (PCI).Methods: Our study included 54 patients with CTO treated by PCI. We evaluate LV systolic function by measurement of left ventricular ejection fraction (LVEF), left ventricular end-systolic volume (LVESV), and the GLS within 24 hours before the PCI and after 3 months post-procedure. Results: The mean age of the patients was 56.65 ± 7.65 years; 74.1% were males. There was a significant improvement in the LVESV (p < 0.001), LVEF (p < 0.001), and GLS (p < 0.001) at 3 months post-PCI, and by multivariate regression analysis, the GLS was the single most significant predictor of LV reverse remodeling post revascularization (p < 0.001).Conclusion: Revascularization of coronary CTO lesions by PCI is associated with a significant improvement in regional and global LV function. The GLS measured by 2D-STE is a strong predictor of LV reverse remodeling post-CTO interventions.