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Macrocephaly, characterized by an abnormally large head circumference, often co-occurs with distinctive finger changes, presenting a diagnostic challenge for clinicians. This review aims to provide a current synthetic overview of the main acquired and genetic etiologies associated with macrocephaly and finger changes. The genetic cause encompasses several categories of diseases, including bone marrow expansion disorders, skeletal dysplasias, ciliopathies, inherited metabolic diseases, RASopathies, and overgrowth syndromes. Furthermore, autoimmune and autoinflammatory diseases are also explored for their potential involvement in macrocephaly and finger changes. The intricate genetic mechanisms involved in the formation of cranial bones and extremities are multifaceted. An excess in growth may stem from disruptions in the intricate interplays among the genetic, epigenetic, and hormonal factors that regulate human growth. Understanding the underlying cellular and molecular mechanisms is important for elucidating the developmental pathways and biological processes that contribute to the observed clinical phenotypes. The review provides a practical approach to delineate causes of macrocephaly and finger changes, facilitate differential diagnosis and guide for the appropriate etiological framework. Early recognition contributes to timely intervention and improved outcomes for affected individuals.
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Dedos , Megalencefalia , Humanos , Megalencefalia/genética , Dedos/anomalíasRESUMEN
Cognitive behavioral therapy is based on the view that maladaptive thinking is the causal mechanism of mental disorders. While this view is supported by extensive evidence, very limited work has addressed the factors that contribute to the development of maladaptive thinking. The present study aimed to uncover interactions between childhood maltreatment and multiple genetic differences in irrational beliefs. Childhood maltreatment and irrational beliefs were assessed using multiple self-report instruments in a sample of healthy volunteers (N = 452). Eighteen single-nucleotide polymorphisms were genotyped in six candidate genes related to neurotransmitter function (COMT; SLC6A4; OXTR), neurotrophic factors (BDNF), and the hypothalamic-pituitary-adrenal axis (NR3C1; CRHR1). Gene-environment interactions (G×E) were first explored in models that employed one measure of childhood maltreatment and one measure of irrational beliefs. These effects were then followed up in models in which either the childhood maltreatment measure, the irrational belief measure, or both were substituted by parallel measures. Consistent results across models indicated that childhood maltreatment was positively associated with irrational beliefs, and these relations were significantly influenced by COMT rs165774 and OXTR rs53576. These results remain preliminary until independent replication, but they represent the best available evidence to date on G×E in a fundamental mechanism of psychopathology.
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Interacción Gen-Ambiente , Polimorfismo de Nucleótido Simple , Receptores de Glucocorticoides , Receptores de Oxitocina , Humanos , Femenino , Masculino , Adulto , Receptores de Oxitocina/genética , Receptores de Hormona Liberadora de Corticotropina/genética , Maltrato a los Niños/psicología , Persona de Mediana Edad , Experiencias Adversas de la Infancia/psicología , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/genética , Adulto Joven , NiñoRESUMEN
The involvement of serotonin in emotion and psychopathology has been extensively examined. Studies using acute tryptophan depletion (ATD) have found limited effects on mood and aggression, and one of the explanations suggests that serotonin may be involved in higher-order functions, such as emotion regulation. However, there is very limited evidence for this hypothesis. The present study investigated the impact of ATD on emotion regulation in a double-blind, placebo-controlled, crossover design. A sample of psychiatrically healthy men (N = 28) completed a cognitive task assessing reappraisal ability (i.e., the success of using reappraisal, an emotion regulation strategy, to modulate emotional responses), following ATD and placebo. EEG frontal activity and asymmetry, as well as heart-rate variability (HRV), also were assessed in the reappraisal task. Both frequentist and Bayesian methods were employed for statistical analysis. Results indicated that ATD reduced plasma tryptophan, and reappraisal was effective in modulating emotional experience in the emotion regulation task. However, ATD had no significant effect on reappraisal ability, frontal activity, and HRV. These results offer direct and compelling evidence that decreasing serotonin synthesis through ATD does not alter an emotion regulation ability that is considered crucial in mood and aggression and has been linked with transdiagnostic risk of psychopathology.
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Regulación Emocional , Triptófano , Humanos , Masculino , Teorema de Bayes , Método Doble Ciego , Emociones/fisiología , Serotonina , Estudios CruzadosRESUMEN
Hughes-Stovin syndrome is a rare disease characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. The etiology and pathogenesis of HSS are incompletely known. The current consensus is that vasculitis underlies the pathogenic process, and pulmonary thrombosis follows arterial wall inflammation. As such, Hughes-Stovin syndrome may belong to the vascular cluster with lung involvement of Behçet syndrome, although oral aphtae, arthritis, and uveitis are rarely found. Behçet syndrome is a multifactorial polygenic disease with genetic, epigenetic, environmental, and mostly immunological contributors. The different Behçet syndrome phenotypes are presumably based upon different genetic determinants involving more than one pathogenic pathway. Hughes-Stovin syndrome may have common pathways with fibromuscular dysplasias and other diseases evolving with vascular aneurysms. We describe a Hughes-Stovin syndrome case fulfilling the Behçet syndrome criteria. A MYLK variant of unknown significance was detected, along with other heterozygous mutations in genes that may impact angiogenesis pathways. We discuss the possible involvement of these genetic findings, as well as other potential common determinants of Behçet/Hughes-Stovin syndrome and aneurysms in vascular Behçet syndrome. Recent advances in diagnostic techniques, including genetic testing, could help diagnose a specific Behçet syndrome subtype and other associated conditions to personalize the disease management.
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Aneurisma , Síndrome de Behçet , Vasculitis , Humanos , Aneurisma/complicaciones , Aneurisma/diagnóstico , Aneurisma/patología , Síndrome de Behçet/diagnóstico , Arteria Pulmonar/patología , Vasculitis/patologíaRESUMEN
The coexistence of osteogenesis imperfecta and inflammatory arthritis has been very rarely described. Nevertheless, systemic inflammation has been found in osteogenesis imperfecta. The COL1A1 mutations may affect collagen synthesis as well as post-translational modifications, extracellular matrix interactions, and receptor-mediated signaling. Major collagen binding ligands forming the interactome, such as cytokines, cell adhesion molecules, matrix metalloproteinases, proteoglycans, and other molecules, are autoimmunity targets involved in rheumatoid arthritis pathogenesis. Cross-talk between bone remodeling and inflammatory pathways involving osteoclasts is important in osteogenesis imperfecta and rheumatoid arthritis. In osteogenesis imperfecta, the structural abnormalities and repeated traumatism, including fractures, could activate locally the innate immunity and trigger arthritis, similar to post-traumatic arthritis. Currently, the therapy of osteogenesis imperfecta is a suboptimally met need. Understanding the complex putative pathogenic links between osteogenesis imperfecta and inflammatory arthritis could hopefully lead to new therapeutic targets. Raising awareness regarding a possible association between osteogenesis imperfecta and arthritis could help improve the quality of life in these patients.
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Artritis Reumatoide , Osteogénesis Imperfecta , Artritis Reumatoide/complicaciones , Colágeno Tipo I/genética , Citocinas , Humanos , Ligandos , Mutación , Osteogénesis Imperfecta/complicaciones , Osteogénesis Imperfecta/tratamiento farmacológico , Osteogénesis Imperfecta/genética , Proteoglicanos , Calidad de VidaRESUMEN
Inclusion body myositis (IBM) is an acquired, late-onset inflammatory myopathy, with both inflammatory and degenerative pathogenesis. Although idiopathic inflammatory myopathies may be associated with malignancies, IBM is generally not considered paraneoplastic. Many studies of malignancy in inflammatory myopathies did not include IBM patients. Indeed, IBM is often diagnosed only after around 5 years from onset, while paraneoplastic myositis is generally defined as the co-occurrence of malignancy and myopathy within 1 to 3 years of each other. Nevertheless, a significant association with large granular lymphocyte leukemia has been recently described in IBM, and there are reports of cancer-associated IBM. We review the pathogenic mechanisms supposed to be involved in IBM and outline the common mechanisms in IBM and malignancy, as well as the therapeutic perspectives. The terminally differentiated, CD8+ highly cytotoxic T cells expressing NK features are central in the pathogenesis of IBM and, paradoxically, play a role in some cancers as well. Interferon gamma plays a central role, mostly during the early stages of the disease. The secondary mitochondrial dysfunction, the autophagy and cell cycle dysregulation, and the crosstalk between metabolic and mitogenic pathways could be shared by IBM and cancer. There are intermingled subcellular mechanisms in IBM and neoplasia, and probably their co-existence is underestimated. The link between IBM and cancers deserves further interest, in order to search for efficient therapies in IBM and to improve muscle function, life quality, and survival in both diseases.
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Miositis por Cuerpos de Inclusión , Miositis , Neoplasias , Autoanticuerpos/metabolismo , Humanos , Músculo Esquelético/metabolismo , Miositis/patología , Miositis por Cuerpos de Inclusión/etiología , Miositis por Cuerpos de Inclusión/terapia , Neoplasias/metabolismoRESUMEN
Hepatocellular carcinoma (HCC) is a frequently encountered cancer type, and its alarming incidence is explained by genetic and epigenetic alterations. Epigenetic changes may represent diagnostic and prognostic biomarkers of HCC. In this review we discussed deoxyribonucleic acid (DNA) hypomethylation, DNA hypermethylation, and aberrant expression of small non-coding ribonucleic acid (RNA), which could be useful new biomarkers in the early diagnosis of HCC. We selected the articles on human subjects published in English over the past two years involving diagnostic markers detected in body fluids, cancer diagnosis made on histopathological exam, and a control group of those with benign liver disease or without liver disease. These biomarkers need further investigation in clinical trials to develop clinical applications for early diagnosis and management of HCC.
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Carcinoma Hepatocelular/genética , Metilación de ADN , Neoplasias Hepáticas/genética , MicroARNs/genética , Biomarcadores de Tumor/genética , Detección Precoz del Cáncer , Epigénesis Genética , Regulación Neoplásica de la Expresión Génica , Humanos , PronósticoRESUMEN
Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.
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Galactosemias/complicaciones , Galactosemias/genética , Fallo Hepático Agudo/complicaciones , Meningitis Bacterianas/complicaciones , Infecciones Estreptocócicas/complicaciones , UTP-Hexosa-1-Fosfato Uridililtransferasa/genética , Preescolar , Países Desarrollados , Femenino , Estudios de Seguimiento , Galactitol/orina , Galactosa/orina , Galactosemias/dietoterapia , Galactosemias/orina , Humanos , Recién Nacido , Prueba de Tolerancia a la Lactosa , Fallo Hepático Agudo/tratamiento farmacológico , Espectroscopía de Resonancia Magnética , Meningitis Bacterianas/tratamiento farmacológico , Mutación , Tamizaje Neonatal , Rumanía , Infecciones Estreptocócicas/tratamiento farmacológico , StreptococcusRESUMEN
The ubiquitous RNA-processing molecule TDP-43 is involved in neuromuscular diseases such as inclusion body myositis, a late-onset acquired inflammatory myopathy. TDP-43 solubility and function are disrupted in certain viral infections. Certain viruses, high viremia, co-infections, reactivation of latent viruses, and post-acute expansion of cytotoxic T cells may all contribute to inclusion body myositis, mainly in an age-shaped immune landscape. The virally induced senescent, interferon gamma-producing cytotoxic CD8+ T cells with increased inflammatory, and cytotoxic features are involved in the occurrence of inclusion body myositis in most such cases, in a genetically predisposed host. We discuss the putative mechanisms linking inclusion body myositis, TDP-43, and viral infections untangling the links between viruses, interferon, and neuromuscular degeneration could shed a light on the pathogenesis of the inclusion body myositis and other TDP-43-related neuromuscular diseases, with possible therapeutic implications.
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Proteínas de Unión al ADN , Miositis por Cuerpos de Inclusión , Virosis , Miositis por Cuerpos de Inclusión/virología , Humanos , Virosis/inmunología , Virosis/virología , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismoRESUMEN
Jatropha multifida L., a plant from the Euphorbiaceae family, is commonly used in Benin's traditional medicine due to its therapeutic benefits. This study aims to explore the medicinal efficacy of Jatropha multifida L. by evaluating its various biological activities. An initial phytochemical analysis was conducted, following which the polyphenols and flavonoids were quantified and identified using LC-MS-ESI. The antimicrobial efficacy of the extracts was tested using agar diffusion. Their antioxidant capacity was assessed using several methods: DPPH radical reduction, ABTS radical cation reduction, ferric ion (FRAP) reduction, and lipid peroxidation (LPO). Anti-inflammatory activity was determined based on the inhibition of protein (specifically albumin) denaturation. The study identified several phenolic and flavonoid compounds, including 2-Hydroxybenzoic acid, o-Coumaroylquinic acid, Apigenin-apiosyl-glucoside, and luteolin-galactoside. Notably, the extracts of J. multifida demonstrated bactericidal effects against a range of pathogens, with Concentration Minimally Bactericidal (CMB) values ranging from 22.67 mg/mL (for organisms such as S. aureus and C. albicans) to 47.61 mg/mL (for E. coli). Among the extracts, the ethanolic variant displayed the most potent DPPH radical scavenging activity, with an IC50 value of 0.72 ± 0.03 mg/mL. In contrast, the methanolic extract was superior in ferric ion reduction, registering 46.23 ± 1.10 µgEAA/g. Interestingly, the water-ethanolic extract surpassed others in the ABTS reduction method with a score of 0.49 ± 0.11 mol ET/g and also showcased the highest albumin denaturation inhibition rate of 97.31 ± 0.35% at a concentration of 1000 µg/mL. In conclusion, the extracts of Jatropha multifida L. are enriched with bioactive compounds that exhibit significant biological activities, underscoring their therapeutic potential.
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Moringa oleifera (M. oleifera) is a tropical tree native to Pakistan, India, Bangladesh, and Afghanistan; it is cultivated for its nutritious leaves, pods, and seeds. This scientific study was conducted to outline the anti-inflammatory properties and mechanisms of action of bioactive compounds from M. oleifera. The existing research has found that the plant is used in traditional medicine due to its bioactive compounds, including phytochemicals: flavonoids and polyphenols. The compounds are thought to exert their anti-inflammatory effects due to: (1) inhibition of pro-inflammatory enzymes: quercetin and kaempferol inhibit the pro-inflammatory enzymes (cyclooxygenase and lipoxygenase); (2) regulation of cytokine production: isothiocyanates modulate signaling pathways involved in inflammation, such as the nuclear factor-kappa B (NF-kappa B) pathway; isothiocyanates inhibit the production of pro-inflammatory cytokines such as TNF-α (tumor necrosis factor α) and IL-1ß (interleukin-1ß); and (3) antioxidant activity: M. oleifera contains flavonoids, polyphenols, known to reduce oxidative stress and inflammation. The review includes M. oleifera's effects on cardiovascular protection, anti-hypertensive activities, type 2 diabetes, inflammatory bowel disease, and non-alcoholic fatty liver disease (NAFLD). This research could prove valuable for exploring the pharmacological potential of M. oleifera and contributing to the prospects of developing effective medicines for the benefit of human health.
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Objective: The aim of this study is to describe a group of Romanian children with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome. Materials: This consisted of 39 children diagnosed with PFAPA syndrome according to Thomas' criteria (eight patients with an age at diagnosis <1 year and 31 patients with an age at diagnosis >1 year). Methods: Retrospective analysis of the patients with PFAPA syndrome was focused on clinical features, laboratory findings and therapeutic methods. Comparison between the two groups divided by age at onset was also investigated. Results: Median age at onset was 1.58 years, and median age at diagnosis was 2.97 years. The mean interval between episodes was 35.5 days and the mean duration per febrile episode was 4.1 days. The median diagnosis delay was 2.42 years. The patients presented pharyngitis (100%), adenitis (94.8%) and aphthous lesions (66.7%). The frequency of febrile attacks was higher in children with an age at diagnosis under 1 year (p = 0.0287). Younger age was associated with the presence of aphthae. The mean value of C-reactive protein (CRP) was 7.9mg/dl and the mean value of leucocytes was 14,839/mm3. In 95% of patients given oral corticosteroids, remission of symptoms was reported within 24 h. In three patients, tonsillectomy was performed with complete remission of the disease. Conclusion: We present a cohort of children with PFAPA syndrome, with clinical and laboratory features similar to those described in the literature. Febrile attacks had a higher incidence in children with younger age at the onset of the disease. The patients had a favorable response to corticosteroids.
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Arrhythmogenic right ventricular dysplasia (ARVD) is a rare genetic condition of the myocardium, with a significantly high risk of sudden death. Recent genetic research and improved understanding of the pathophysiology tend to change the ARVD definition towards a larger spectrum of myocardial involvement, which includes, in various proportions, both the right (RV) and left ventricle (LV), currently referred to as ACM (arrhythmogenic cardiomyopathy). Its pathological substrate is defined by the replacement of the ventricular myocardium with fibrous adipose tissue that further leads to inadequate electrical impulses and translates into varies degrees of malignant ventricular arrythmias and dyskinetic myocardium movements. Particularly, the cardio-cutaneous syndromes of Carvajal/Naxos represent rare causes of ACM that might be suspected from early childhood. The diagnostic is sometimes challenging, even with well-established rTFC or Padua criteria, especially for pediatric patients or ACM with LV involvement. Cardiac MRI gain more and more importance in ACM diagnostic especially in non-classical forms. Furthermore, MRI is useful in highlighting myocardial fibrosis, fatty replacement or wall movement with high accuracy, thus guiding not only the depiction, but also the patient's stratification and management.
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The oral microbiome, forming a biofilm that covers the oral structures, contains a high number of microorganisms. Biofilm formation starts from the salivary pellicle that allows bacterial adhesion-colonization-proliferation, co-aggregation and biofilm maturation in a complex microbial community. There is a constant bidirectional crosstalk between human host and its oral microbiome. The paper presents the fundamentals regarding the oral microbiome and its relationship to modulator factors, oral and systemic health. The modern studies of oral microorganisms and relationships with the host benefits are based on genomics, transcriptomics, proteomics and metabolomics. Pharmaceuticals such as antimicrobials, prebiotics, probiotics, surface active or abrasive agents and plant-derived ingredients may influence the oral microbiome. Many studies found associations between oral dysbiosis and systemic disorders, including autoimmune diseases, cardiovascular, diabetes, cancers and neurodegenerative disorders. We outline the general and individual factors influencing the host-microbial balance and the possibility to use the analysis of the oral microbiome in prevention, diagnosis and treatment in personalized medicine. Future therapies should take in account the restoration of the normal symbiotic relation with the oral microbiome.
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The genus Dysphania belongs to the Amaranthaceae family and is known for its many health benefits. Therefore, it is commonly available worldwide and includes more than 47 species, five species have been mainly reported, and D. ambrosioides has been one of the most widely used plants for thousands of years as a remedy for a wide range of ailments. In recent investigations, the essential oils of the genus Dysphania have been examined for their antibacterial, antioxidant, and antiviral properties related to specific components such as terpenoid compounds that exhibit pharmacological activity. Moreover, some of Dysphania's compounds show a toxicological effect. Therefore, the objective of the study was to provide EO chemical composition and pharmacological data of the genus Dysphania.
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Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucose into many tissues, and is highly expressed in the brain and in erythrocytes. Glut1 deficiency syndrome is caused mainly by mutations of the SLC2A1 gene, impairing passive glucose transport across the blood-brain barrier. All age groups, from infants to adults, may be affected, with age-specific symptoms. In its classic form, the syndrome presents as an early-onset drug-resistant metabolic epileptic encephalopathy with a complex movement disorder and developmental delay. In later-onset forms, complex motor disorder predominates, with dystonia, ataxia, chorea or spasticity, often triggered by fasting. Diagnosis is confirmed by hypoglycorrhachia (below 45 mg/dL) with normal blood glucose, 18F-fluorodeoxyglucose positron emission tomography, and genetic analysis showing pathogenic SLC2A1 variants. There are also ongoing positive studies on erythrocytes' Glut1 surface expression using flow cytometry. The standard treatment still consists of ketogenic therapies supplying ketones as alternative brain fuel. Anaplerotic substances may provide alternative energy sources. Understanding the complex interactions of Glut1 with other tissues, its signaling function for brain angiogenesis and gliosis, and the complex regulation of glucose transportation, including compensatory mechanisms in different tissues, will hopefully advance therapy. Ongoing research for future interventions is focusing on small molecules to restore Glut1, metabolic stimulation, and SLC2A1 transfer strategies. Newborn screening, early identification and treatment could minimize the neurodevelopmental disease consequences. Furthermore, understanding Glut1 relative deficiency or inhibition in inflammation, neurodegenerative disorders, and viral infections including COVID-19 and other settings could provide clues for future therapeutic approaches.
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Non-alcoholic fatty liver disease (NAFLD) is characterized by an accumulation of hepatic fat, diagnosed histologically or radiologically (ultrasound), in the absence of a secondary cause of steatosis, especially alcohol consumption. Its prevalence is estimated to be approximately 25%. This high prevalence is correlated with the risk factors attributed to the metabolic syndrome. Non-alcoholic steatohepatitis (NASH) is a progressive form of NAFL and it can lead to end-stage liver disease in some patients. Once diagnosed, lifestyle changes must be initiated to lower hepatic fat accumulations in the liver. Physical exercise and diet play the most important role in achieving the desired weight loss goal.
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Pediatricians should be aware of the clinical presentation, emergency intervention, and long-term management of hyperammonemia. In Romania, there are many challenges regarding hyperammonemia: low awareness of the need for prompt diagnosis and adequate management, communication problems between different physicians, lack of knowledge and availability of diagnostic tools and medications, lack of dietitians trained in metabolic diseases. Urea cycle disorders (UCD) are severe diseases, with high mortality in neonates and possible neurologic complications in the survivors. Clinical presentation is variable, with the onset at any age. It is crucial for a correct and early diagnosis that the first physician sees a patient with symptoms of hyperammonemia to think of it. Pediatricians should suspect UCD in neonates or children with hyperammonemia without metabolic acidosis and hypoglycemia. Neonatal sepsis is the most frequent misdiagnosis. Pediatricians and parents of a child with UCD should be aware of the potential triggers of hyperammonemia. Emergency treatment to reduce the ammonia level should be initiated as quickly as possible. Long-term treatment aims to obtain metabolic control and achieve normal development and growth. A multidisciplinary approach in managing these children improves survival chances and the long-term quality of life.
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Recent years have brought about new understandings regarding the pathogenesis of anemia in sports. From hemodilution and redistribution considered to contribute to the so-called "sports anemia" to iron deficiency caused by increased demands, dietary restrictions, decreased absorption, increased losses, hemolysis, and sequestration, to genetic determinants of different types of anemia (some related to sport), the anemia in athletes deserves a careful and multifactorial approach. Dietary factors that reduce iron absorption (e.g., phytate, polyphenols) and that augment iron's bioavailability (e.g., ascorbic acid) should be considered. Celiac disease, more prevalent in female athletes, may underlie an unexplained iron deficiency anemia. Iron loss during exercise occurs in several ways: sweating, hematuria, gastrointestinal bleeding, inflammation, and intravascular and extravascular hemolysis. From a practical point of view, assessing iron status, especially in the athletes at risk for iron deficiency (females, adolescents, in sports with dietary restrictions, etc.), may improve the iron balance and possibly the performance. Hemoglobin and serum ferritin are measures that are easily employable for the evaluation of patients' iron status. Cutoff values should probably be further assessed with respect to the sex, age, and type of sport. A healthy gut microbiome influences the iron status. Athletes at risk of iron deficiency should perform non-weight-bearing, low-intensity sports to avoid inducing hemolysis.
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Thoracic aortic aneurysms may result in dissection with fatal consequences if undetected. A young male patient with no relevant familial history, after having been investigated for hypertension, was diagnosed with an ascending aortic aneurysm involving the aortic root and the proximal tubular segment, associated with a septal atrial defect. The patient underwent a Bentall surgery protocol without complications. Clinical examination revealed dorso-lumbar scoliosis and no other signs of underlying connective tissue disease. Microscopic examination revealed strikingly severe medial degeneration of the aorta, with areas of deep disorganization of the medial musculo-elastic structural units and mucoid material deposition. Genetic testing found a variant of unknown significance the PRKG1 gene encoding the protein kinase cGMP-dependent 1, which is important in blood pressure regulation. There may be genetic links between high blood pressure and thoracic aortic aneurysm determinants. Hypertension was found in FBN1 gene mutations encoding fibrillin and in PRKG1 mutations. Possible mechanisms involving the renin-angiotensin system, the role of oxidative stress, osteopontin, epigenetic modifications and other genes are reviewed. Close follow-up and strict hypertension control are required to reduce the risk of dissection. Hypertension, scoliosis and other extra-aortic signs suggesting a connective tissue disease are possible clues for diagnosis.